format-version: 1.2 data-version: hp/releases/2019-06-03 saved-by: Peter Robinson, Sebastian Koehler, Sandra Doelken, Chris Mungall, Melissa Haendel, Nicole Vasilevsky, Monarch Initiative, et al. subsetdef: hposlim_core "Core clinical terminology" subsetdef: secondary_consequence "Consequence of a disorder in another organ system." synonymtypedef: HP:0031859 "obsolete synonym" synonymtypedef: HP:0045076 "UK spelling" synonymtypedef: HP:0045077 "abbreviation" synonymtypedef: HP:0045078 "plural form" synonymtypedef: layperson "layperson term" default-namespace: human_phenotype remark: Please see license of HPO at http://www.human-phenotype-ontology.org ontology: hp.obo property_value: http://purl.org/dc/elements/1.1/creator "Human Phenotype Ontology Consortium" xsd:string property_value: http://purl.org/dc/elements/1.1/creator "Monarch Initiative" xsd:string property_value: http://purl.org/dc/elements/1.1/creator "Peter Robinson" xsd:string property_value: http://purl.org/dc/elements/1.1/creator "Sebastian Köhler" xsd:string property_value: http://purl.org/dc/elements/1.1/description "The Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities and clinical features encountered in human disease." xsd:string property_value: http://purl.org/dc/elements/1.1/license https://hpo.jax.org/app/license xsd:string property_value: http://purl.org/dc/elements/1.1/rights "Peter Robinson, Sebastian Koehler, The Human Phenotype Ontology Consortium, and The Monarch Initiative" xsd:string property_value: http://purl.org/dc/elements/1.1/subject "Phenotypic abnormalities encountered in human disease" xsd:string property_value: http://purl.org/dc/elements/1.1/title "Human Phenotype Ontology" xsd:string property_value: http://purl.org/dc/terms/license https://hpo.jax.org/app/license xsd:string logical-definition-view-relation: has_part [Term] id: HP:0000001 name: All comment: Root of all terms in the Human Phenotype Ontology. xref: UMLS:C0444868 [Term] id: HP:0000002 name: Abnormality of body height def: "Deviation from the norm of height with respect to that which is expected according to age and gender norms." [HPO:probinson] synonym: "Abnormality of body height" EXACT layperson [] xref: UMLS:C4025901 is_a: HP:0001507 ! Growth abnormality created_by: peter creation_date: 2008-02-27T02:20:00Z [Term] id: HP:0000003 name: Multicystic kidney dysplasia alt_id: HP:0004715 def: "Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional." [HPO:curators] comment: Multicystic kidney dysplasia is the result of abnormal fetal renal development in which the affected kidney is replaced by multiple cysts and has little or no residual function. The vast majority of multicystic kidneys are unilateral. Multicystic kidney can be diagnosed on prenatal ultrasound. synonym: "Multicystic dysplastic kidney" EXACT [] synonym: "Multicystic kidneys" EXACT [] synonym: "Multicystic renal dysplasia" EXACT [] xref: MSH:D021782 xref: SNOMEDCT_US:204962002 xref: SNOMEDCT_US:82525005 xref: UMLS:C3714581 is_a: HP:0000107 ! Renal cyst [Term] id: HP:0000005 name: Mode of inheritance alt_id: HP:0001453 alt_id: HP:0001461 def: "The pattern in which a particular genetic trait or disorder is passed from one generation to the next." [HPO:probinson] synonym: "Inheritance" EXACT [] xref: UMLS:C1708511 is_a: HP:0000001 ! All [Term] id: HP:0000006 name: Autosomal dominant inheritance alt_id: HP:0001415 alt_id: HP:0001447 alt_id: HP:0001448 alt_id: HP:0001451 alt_id: HP:0001455 alt_id: HP:0001456 alt_id: HP:0001463 def: "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] synonym: "Autosomal dominant" EXACT [] synonym: "Autosomal dominant form" RELATED [HPO:skoehler] synonym: "Autosomal dominant type" RELATED [HPO:skoehler] xref: SNOMEDCT_US:263681008 xref: UMLS:C0443147 is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0000007 name: Autosomal recessive inheritance alt_id: HP:0001416 alt_id: HP:0001526 def: "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:probinson] synonym: "Autosomal recessive" EXACT [] synonym: "Autosomal recessive form" RELATED [HPO:skoehler] synonym: "Autosomal recessive predisposition" RELATED [] xref: SNOMEDCT_US:258211005 xref: UMLS:C0441748 xref: UMLS:C4020899 is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0000008 name: Abnormality of female internal genitalia def: "An abnormality of the female internal genitalia." [HPO:probinson] xref: UMLS:C4025900 is_a: HP:0000812 ! Abnormal internal genitalia is_a: HP:0010460 ! Abnormality of the female genitalia [Term] id: HP:0000009 name: Functional abnormality of the bladder alt_id: HP:0004424 alt_id: HP:0008731 def: "Dysfunction of the urinary bladder." [HPO:probinson] synonym: "Poor bladder function" EXACT [] xref: UMLS:C3806583 is_a: HP:0000014 ! Abnormality of the bladder [Term] id: HP:0000010 name: Recurrent urinary tract infections alt_id: HP:0000094 def: "Repeated infections of the urinary tract." [HPO:probinson] comment: The urinary tract comprises the kidneys, ureters, a bladder, and a urethra. synonym: "Frequent urinary tract infections" EXACT layperson [] synonym: "Recurrent UTIs" EXACT HP:0045077 [] synonym: "Urinary infection" EXACT layperson [] synonym: "Urinary tract infection" EXACT layperson [] synonym: "Urinary tract infections" EXACT layperson [] synonym: "Urinary tract infections, recurrent" EXACT layperson [HPO:skoehler] xref: SNOMEDCT_US:197927001 xref: UMLS:C0262655 is_a: HP:0002719 ! Recurrent infections is_a: HP:0011277 ! Abnormality of the urinary system physiology [Term] id: HP:0000011 name: Neurogenic bladder def: "A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention." [HPO:probinson, PMID:18095004, PMID:22400020] comment: Neurogenic bladder sphincter dysfunction (NBSD) can develop as a result of a lesion at any level in the nervous system, including the cerebral cortex, spinal cord, or peripheral nervous system. Neurologic conditions in children leading to neurogenic bladder dysfunction are predominantly congenital neural tube defects (including myelomeningocele, lipomeningocele, sacral agenesis, and occult lesions causing tethered cord). Acquired causes such as spinal cord tumors or trauma or sequelae of transverse myelitis are less frequent. Whereas from an etiologic standpoint neurogenic bladder dysfunction is a heterogeneous group, medical management will be similar irrespective of the underlying cause. synonym: "Lack of bladder control due to nervous system injury" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:D001750 xref: SNOMEDCT_US:397732007 xref: SNOMEDCT_US:398064005 xref: UMLS:C0005697 is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000012 name: Urinary urgency def: "Urge incontinence is the strong, sudden need to urinate." [HPO:probinson, pmid:12559262] comment: Urinary urgency is the strong, sudden need to urinate and is usually due to bladder spasms or contractions. This symptom is suggestive of, but not necessarily conclusive for urodynamically demonstrable detrusor hyperactivity. synonym: "Overactive bladder" EXACT layperson [ORCID:0000-0002-0736-9199] synonym: "Overactive bladder syndrome" RELATED [] synonym: "Urgency frequency syndrome" RELATED [] synonym: "Urinary urgency" EXACT layperson [] xref: SNOMEDCT_US:75088002 xref: UMLS:C0085606 xref: UMLS:C3544092 xref: UMLS:C4020898 is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000013 name: Hypoplasia of the uterus alt_id: HP:0001154 alt_id: HP:0008637 def: "Underdevelopment of the uterus." [HPO:probinson] synonym: "Hypoplastic uterus" EXACT [] synonym: "Rudimentary uterus" EXACT [] synonym: "Small uterus" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Underdeveloped uterus" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:35850006 xref: UMLS:C0266399 is_a: HP:0008684 ! Aplasia/hypoplasia of the uterus [Term] id: HP:0000014 name: Abnormality of the bladder def: "An abnormality of the urinary bladder." [HPO:probinson] xref: UMLS:C0149632 is_a: HP:0010936 ! Abnormality of the lower urinary tract [Term] id: HP:0000015 name: Bladder diverticulum def: "Diverticulum (sac or pouch) in the wall of the urinary bladder." [HPO:probinson] synonym: "Bladder diverticula" EXACT [HPO:skoehler] xref: MSH:C562406 xref: SNOMEDCT_US:197866008 xref: UMLS:C0156273 is_a: HP:0025487 ! Abnormality of bladder morphology [Term] id: HP:0000016 name: Urinary retention def: "Inability to completely empty the urinary bladder during the process of urination." [HPO:probinson] comment: Urinary retention is the inability of the urinary bladder to empty. The cause may be neurologic or nonneurologic. synonym: "Increased post-void residual urine volume" EXACT [] xref: MSH:D016055 xref: SNOMEDCT_US:130951007 xref: SNOMEDCT_US:267064002 xref: SNOMEDCT_US:449491000124101 xref: UMLS:C0080274 is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000017 name: Nocturia def: "Abnormally increased production of urine during the night leading to an unusually frequent need to urinate." [HPO:sdoelken] comment: Often occuring as a result of heart insufficiency. synonym: "Nycturia" EXACT [HPO:sdoelken] xref: MSH:D053158 xref: SNOMEDCT_US:139394000 xref: UMLS:C0028734 is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000019 name: Urinary hesitancy def: "Difficulty in beginning the process of urination." [HPO:probinson] synonym: "Difficulty with flow" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:5972002 xref: UMLS:C0152032 is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000020 name: Urinary incontinence alt_id: HP:0006942 alt_id: HP:0008681 def: "Loss of the ability to control the urinary bladder leading to involuntary urination." [HPO:sdoelken, pmid:12559262] comment: Urinary incontinence can be defined as the complaint of any involuntary leakage of urine. synonym: "Bladder incontinence" EXACT [] synonym: "Loss of bladder control" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D014549 xref: SNOMEDCT_US:165232002 xref: UMLS:C0042024 is_a: HP:0000009 ! Functional abnormality of the bladder is_a: HP:0031064 ! Impaired continence [Term] id: HP:0000021 name: Megacystis alt_id: HP:0002838 def: "Dilatation of the bladder postnatally." [HPO:probinson] xref: MSH:C536139 xref: UMLS:C1855311 is_a: HP:0010955 ! Dilatation of the bladder [Term] id: HP:0000022 name: Abnormality of male internal genitalia def: "An abnormality of the male internal genitalia." [HPO:probinson] comment: The internal genital structures of the male including the testis, epididymis, vas deferens, seminal vesicle, ejaculatory duct, bulbourethral gland, and the prostate. xref: UMLS:C4025899 is_a: HP:0000812 ! Abnormal internal genitalia is_a: HP:0010461 ! Abnormality of the male genitalia [Term] id: HP:0000023 name: Inguinal hernia def: "Protrusion of the contents of the abdominal cavity through the inguinal canal." [HPO:probinson] comment: Inguinal hernia appears as a bulge in the groin. subset: hposlim_core xref: MEDDRA:10022016 "Inguinal hernia" xref: MSH:D006552 xref: SNOMEDCT_US:396232000 xref: UMLS:C0019294 is_a: HP:0004299 ! Hernia of the abdominal wall [Term] id: HP:0000024 name: Prostatitis def: "The presence of inflammation of the prostate." [HPO:probinson] synonym: "Inflammation of the prostate" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D011472 xref: SNOMEDCT_US:9713002 xref: UMLS:C0033581 is_a: HP:0008775 ! Abnormality of the prostate is_a: HP:0012649 ! Increased inflammatory response [Term] id: HP:0000025 name: Functional abnormality of male internal genitalia xref: UMLS:C4025898 is_a: HP:0012874 ! Abnormal male reproductive system physiology [Term] id: HP:0000026 name: Male hypogonadism alt_id: HP:0008649 def: "Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis." [HPO:probinson] synonym: "Decreased function of male gonad" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D005058 xref: SNOMEDCT_US:48723006 xref: UMLS:C0151721 is_a: HP:0000025 ! Functional abnormality of male internal genitalia is_a: HP:0000135 ! Hypogonadism [Term] id: HP:0000027 name: Azoospermia def: "Absence of any measurable level of sperm in his semen." [HPO:probinson, pmid:20514278] synonym: "Absent sperm in semen" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D053713 xref: SNOMEDCT_US:425558002 xref: SNOMEDCT_US:48188009 xref: UMLS:C0004509 is_a: HP:0008669 ! Abnormal spermatogenesis [Term] id: HP:0000028 name: Cryptorchidism alt_id: HP:0000797 def: "Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:probinson, pmid:23650202] comment: The gonad is mobile and can be retracted superiorly by the cremaster muscle reflex stimulated, for instance, by cold or touch. A retracted testis is not cryptorchidism. An abdominal testis cannot be distinguished by physical examination from an (Apparently) absent testis and requires radiological (or, rarely, surgical) procedures for assessment. synonym: "Cryptorchism" EXACT [ORCID:0000-0001-5208-3432] synonym: "Undescended testes" EXACT layperson [] synonym: "Undescended testis" EXACT layperson [] xref: Fyler:4493 xref: MSH:D003456 xref: SNOMEDCT_US:204878001 xref: UMLS:C0010417 is_a: HP:0000035 ! Abnormal testis morphology [Term] id: HP:0000029 name: Testicular atrophy def: "Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility." [HPO:probinson] synonym: "Testicular degeneration" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:17585008 xref: UMLS:C0156312 is_a: HP:0000035 ! Abnormal testis morphology [Term] id: HP:0000030 name: Testicular gonadoblastoma def: "The presence of a gonadoblastoma of the testis." [HPO:probinson] synonym: "Gonadoblastoma, male" RELATED [] xref: NCIT:C3754 xref: UMLS:C1515283 is_a: HP:0000150 ! Gonadoblastoma is_a: HP:0010788 ! Testicular neoplasm [Term] id: HP:0000031 name: Epididymitis def: "The presence of inflammation of the epididymis." [HPO:probinson] xref: MSH:D004823 xref: SNOMEDCT_US:31070006 xref: UMLS:C0014534 is_a: HP:0009714 ! Abnormality of the epididymis is_a: HP:0012649 ! Increased inflammatory response [Term] id: HP:0000032 name: Abnormality of male external genitalia def: "An abnormality of male external genitalia." [HPO:probinson] xref: UMLS:C4025897 is_a: HP:0000811 ! Abnormal external genitalia is_a: HP:0010461 ! Abnormality of the male genitalia [Term] id: HP:0000033 name: Ambiguous genitalia, male def: "Ambiguous genitalia in an individual with XY genetic gender." [HPO:probinson] synonym: "Ambiguous genitalia in males" EXACT layperson [] xref: UMLS:C4021823 is_a: HP:0000032 ! Abnormality of male external genitalia is_a: HP:0000062 ! Ambiguous genitalia [Term] id: HP:0000034 name: Hydrocele testis def: "Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis." [HPO:probinson] synonym: "Hydrocele" BROAD [] synonym: "Testicular hydrocele" EXACT [] xref: MSH:D006848 xref: SNOMEDCT_US:26614003 xref: SNOMEDCT_US:386152007 xref: SNOMEDCT_US:55434001 xref: UMLS:C1720771 is_a: HP:0000035 ! Abnormal testis morphology [Term] id: HP:0000035 name: Abnormal testis morphology def: "An anomaly of the testicle (the male gonad)." [HPO:probinson] synonym: "Abnormality of the testis" EXACT layperson [] synonym: "Anomaly of the testes" EXACT [] xref: SNOMEDCT_US:55631001 xref: UMLS:C0266423 is_a: HP:0000032 ! Abnormality of male external genitalia [Term] id: HP:0000036 name: Abnormality of the penis synonym: "Abnormality of the penis" EXACT layperson [] xref: UMLS:C4025896 is_a: HP:0000032 ! Abnormality of male external genitalia [Term] id: HP:0000037 name: Male pseudohermaphroditism def: "Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes." [HPO:curators] xref: MSH:D058490 xref: SNOMEDCT_US:111332007 xref: UMLS:C0238395 is_a: HP:0000032 ! Abnormality of male external genitalia [Term] id: HP:0000039 name: Epispadias def: "Displacement of the urethral opening on the dorsal (superior) surface of the penis." [HPO:probinson, pmid:23650202] comment: Epispadias may be present in a phenotypic male, female, or an individual with ambiguous genitalia. A meatus in a phenotypic male may be positioned either on the glans (glandular or balanic epispadias), the shaft (penile epispadias) or at the attachment of the penis to the abdominal wall (penopubic epispadias). Alternatively, the urethra may be an open groove along the dorsal shaft of the penis, with no readily recognized meatus. Epispadias is a frequent component of Bladder exstrophy, but should be coded separately. xref: SNOMEDCT_US:406477003 xref: UMLS:C0563449 is_a: HP:0100627 ! Displacement of the urethral meatus [Term] id: HP:0000040 name: Long penis def: "Penile length more than 2 SD above the mean for age." [] comment: Penile length is the distance between the midline attachment of the gently stretched, flaccid penis above the pubic symphysis and tip of the glans. synonym: "Enlarged penis" EXACT layperson [] synonym: "Long penis" EXACT layperson [] xref: SNOMEDCT_US:88673001 xref: UMLS:C0269011 is_a: HP:0000036 ! Abnormality of the penis [Term] id: HP:0000041 name: Chordee def: "Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees." [HPO:probinson, pmid:23650202] comment: The degree of variation of penis curvature is a continuum, but traditionally 30 degrees is considered the threshold for surgical intervention on chordee. Bowing usually becomes more obvious in an erect penis, but is frequently also palpable when stretching a flaccid penis. Chordee can be congenital or acquired; if the former, it can be associated with Webbed Penis or Hypospadias, which should be coded separately. xref: SNOMEDCT_US:4287008 xref: UMLS:C0221182 is_a: HP:0000036 ! Abnormality of the penis [Term] id: HP:0000042 name: Absent external genitalia def: "Lack of external genitalia in a male or female individual." [HPO:probinson] synonym: "Absent external genitalia" EXACT layperson [] xref: UMLS:C1848869 is_a: HP:0000811 ! Abnormal external genitalia [Term] id: HP:0000044 name: Hypogonadotrophic hypogonadism alt_id: HP:0003335 alt_id: HP:0008224 def: "Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [HPO:probinson] synonym: "Hypogonadism, hypogonadotropic" EXACT [] synonym: "Isolated hypogonadotropic hypogonadism" RELATED [] synonym: "Low gonadotropins (secondary hypogonadism)" EXACT [] xref: MSH:D007006 xref: SNOMEDCT_US:33927004 xref: UMLS:C0271623 xref: UMLS:C3489396 is_a: HP:0000135 ! Hypogonadism [Term] id: HP:0000045 name: Abnormality of the scrotum xref: UMLS:C4025895 is_a: HP:0000032 ! Abnormality of male external genitalia [Term] id: HP:0000046 name: Scrotal hypoplasia synonym: "Hypoplastic scrotum" EXACT [] synonym: "Smaller than typical growth of scrotum" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:204912007 xref: UMLS:C0431659 is_a: HP:0000045 ! Abnormality of the scrotum is_a: HP:0000050 ! Hypoplastic male external genitalia [Term] id: HP:0000047 name: Hypospadias def: "Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum." [HPO:probinson, PMID:21968448] synonym: "Hypospadia" EXACT [ORCID:0000-0001-5208-3432] xref: Fyler:4504 xref: SNOMEDCT_US:204888000 xref: UMLS:C1691215 is_a: HP:0100627 ! Displacement of the urethral meatus [Term] id: HP:0000048 name: Bifid scrotum def: "Midline indentation or cleft of the scrotum." [HPO:probinson, pmid:23650202] comment: A testis may or may not be present in each half of the scrotum. synonym: "Cleft of scrotum" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Scrotal cleft" EXACT [] xref: SNOMEDCT_US:236780002 xref: UMLS:C0341787 is_a: HP:0000045 ! Abnormality of the scrotum [Term] id: HP:0000049 name: Shawl scrotum def: "Superior margin of the scrotum superior to the base of the penis." [HPO:probinson, pmid:23650202] comment: A congenital overriding scrotum may disappear with growth and development, especially during puberty. If the entire scrotum is located superior to the penis, the term Penoscrotal transposition is used instead. synonym: "Overriding scrotum" EXACT [] synonym: "Scrotum surrounds penis" EXACT layperson [ORCID:0000-0002-6548-5200] xref: UMLS:C1858539 is_a: HP:0000045 ! Abnormality of the scrotum [Term] id: HP:0000050 name: Hypoplastic male external genitalia alt_id: HP:0008710 alt_id: HP:0008721 def: "Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra)." [HPO:probinson] synonym: "Hypoplastic male genitalia" EXACT [] synonym: "Small male external genitalia" EXACT layperson [] synonym: "Underdeveloped male genitalia" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1852534 is_a: HP:0000032 ! Abnormality of male external genitalia is_a: HP:0003241 ! External genital hypoplasia [Term] id: HP:0000051 name: Perineal hypospadias def: "Hypospadias with location of the urethral meatus in the perineal region." [HPO:probinson, pmid:8097257] xref: SNOMEDCT_US:204890004 xref: UMLS:C0452148 is_a: HP:0000047 ! Hypospadias [Term] id: HP:0000052 name: Urethral atresia, male def: "Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males." [HPO:probinson] xref: UMLS:C4025894 is_a: HP:0000068 ! Urethral atresia [Term] id: HP:0000053 name: Macroorchidism def: "The presence of abnormally large testes." [HPO:probinson] synonym: "Large testicles" EXACT [] synonym: "Large testis" EXACT layperson [] xref: UMLS:C1263023 is_a: HP:0045058 ! Abnormality of the testis size [Term] id: HP:0000054 name: Micropenis alt_id: HP:0000038 def: "Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm." [HPO:probinson, pmid:15102623] synonym: "Short penis" EXACT layperson [] synonym: "Small penis" EXACT layperson [] xref: SNOMEDCT_US:34911001 xref: UMLS:C0266435 is_a: HP:0008736 ! Hypoplasia of penis [Term] id: HP:0000055 name: Abnormality of female external genitalia def: "An abnormality of the female external genitalia." [HPO:probinson] synonym: "Abnormal female external genitalia" EXACT layperson [HPO:skoehler] xref: UMLS:C4021822 is_a: HP:0000811 ! Abnormal external genitalia is_a: HP:0010460 ! Abnormality of the female genitalia [Term] id: HP:0000056 name: Abnormality of the clitoris def: "An abnormality of the clitoris." [HPO:probinson] synonym: "Abnormality of the clit" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025893 is_a: HP:0000055 ! Abnormality of female external genitalia [Term] id: HP:0000057 name: obsolete Clitoromegaly is_obsolete: true replaced_by: HP:0008665 [Term] id: HP:0000058 name: Abnormality of the labia def: "An anomaly of the labia, the externally visible portions of the vulva." [HPO:probinson] xref: UMLS:C4025892 is_a: HP:0000055 ! Abnormality of female external genitalia [Term] id: HP:0000059 name: Hypoplastic labia majora def: "Undergrowth of the outer labia." [HPO:probinson] synonym: "Hypoplasia of labia majora" EXACT [] synonym: "Small labia majora" EXACT layperson [] synonym: "Underdeveloped vaginal lips" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:289469003 xref: UMLS:C0566899 is_a: HP:0000066 ! Labial hypoplasia is_a: HP:0012881 ! Abnormality of the labia majora [Term] id: HP:0000060 name: Clitoral hypoplasia def: "Developmental hypoplasia of the clitoris." [HPO:probinson] synonym: "Hypoplastic clitoris" EXACT [] synonym: "Small clitoris" EXACT layperson [] synonym: "Underdeveloped clit" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1844527 is_a: HP:0012815 ! Hypoplastic female external genitalia is_a: HP:0040255 ! Aplasia/Hypoplasia of the clitoris [Term] id: HP:0000061 name: Ambiguous genitalia, female alt_id: HP:0008690 def: "Ambiguous genitalia in an individual with XX genetic gender." [HPO:probinson] synonym: "Ambiguous genitalia due to virilization" RELATED [] synonym: "Atypical appearance of female genitals" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1859980 xref: UMLS:C4025891 is_a: HP:0000055 ! Abnormality of female external genitalia is_a: HP:0000062 ! Ambiguous genitalia [Term] id: HP:0000062 name: Ambiguous genitalia alt_id: HP:0008685 alt_id: HP:0008693 def: "A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4." [HPO:probinson, pmid:15102623] comment: Note that this term can include or combine variations in size and shape, with partial or complete absence of structures. It is preferable to describe the individual components, which are defined below. It is nonetheless a widely used bundled term and as such is retained here. The distinction of this finding from a marked degree of Hypospadias is an example of how this term can be problematic. Genetic gender is determined at fertilization, whereby the presence of a Y chromosome determines male gender. Normally, genetic gender determines gonadal gender which in turn determines phenotypic gender. Testicular development is an active process requiring expression of the primary testis determining gene SRY, which is located on the Y chromosome. synonym: "Ambiguous external genitalia" EXACT layperson [] synonym: "Ambiguous external genitalia at birth" EXACT layperson [] synonym: "Intersex genitalia" EXACT layperson [] xref: MSH:D012734 xref: SNOMEDCT_US:21321009 xref: UMLS:C0266362 is_a: HP:0000811 ! Abnormal external genitalia [Term] id: HP:0000063 name: Fused labia minora def: "Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction." [HPO:curators] synonym: "Fused inner lips" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1837532 is_a: HP:0012880 ! Abnormality of the labia minora [Term] id: HP:0000064 name: Hypoplastic labia minora synonym: "Underdeveloped inner lips" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1849295 is_a: HP:0000066 ! Labial hypoplasia is_a: HP:0012880 ! Abnormality of the labia minora [Term] id: HP:0000065 name: Labial hypertrophy synonym: "Enlargement of the labia" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Enlargement of the vaginal lips" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:16924008 xref: UMLS:C0404531 is_a: HP:0000058 ! Abnormality of the labia [Term] id: HP:0000066 name: Labial hypoplasia synonym: "Hypoplastic labia" EXACT [] synonym: "Underdeveloped labia" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1850325 is_a: HP:0000058 ! Abnormality of the labia is_a: HP:0012815 ! Hypoplastic female external genitalia [Term] id: HP:0000067 name: Urethral atresia, female def: "Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females." [HPO:probinson] xref: UMLS:C4025890 is_a: HP:0000055 ! Abnormality of female external genitalia is_a: HP:0000068 ! Urethral atresia [Term] id: HP:0000068 name: Urethral atresia def: "Congenital anomaly characterized by closure or failure to develop an opening in the urethra." [HPO:probinson] synonym: "Absent urethral opening" EXACT [] synonym: "Urethral opening absent" EXACT [] xref: UMLS:C1610065 is_a: HP:0000795 ! Abnormality of the urethra [Term] id: HP:0000069 name: Abnormality of the ureter alt_id: HP:0006001 def: "An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder." [HPO:probinson] synonym: "Abnormality of the ureters" EXACT [] synonym: "Ureter issue" EXACT [] synonym: "Ureteral anomalies" EXACT [] xref: UMLS:C1840382 is_a: HP:0010935 ! Abnormality of the upper urinary tract [Term] id: HP:0000070 name: Ureterocele def: "A ureterocele is a congenital saccular dilatation of the distal segment of the ureter." [eMedicine:453993] xref: MSH:D014518 xref: SNOMEDCT_US:12818004 xref: UMLS:C0041960 is_a: HP:0025633 ! Abnormal ureter morphology [Term] id: HP:0000071 name: Ureteral stenosis def: "The presence of a stenotic, i.e., constricted ureter." [HPO:probinson] synonym: "Narrowing of the ureter" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:95574003 xref: UMLS:C0521618 is_a: HP:0006000 ! Ureteral obstruction [Term] id: HP:0000072 name: Hydroureter alt_id: HP:0006003 def: "The distention of the ureter with urine." [HPO:curators] synonym: "Megaureter" EXACT [] synonym: "Swelling of ureter" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Ureteral dilatation" EXACT [] synonym: "Uroureter" RELATED [] xref: SNOMEDCT_US:69758005 xref: SNOMEDCT_US:95576001 xref: UMLS:C0521620 xref: UMLS:C4020897 is_a: HP:0025633 ! Abnormal ureter morphology [Term] id: HP:0000073 name: Ureteral duplication def: "A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder." [HPO:curators] synonym: "Double ureter" EXACT layperson [] xref: SNOMEDCT_US:49496001 xref: UMLS:C0221365 is_a: HP:0025633 ! Abnormal ureter morphology [Term] id: HP:0000074 name: Ureteropelvic junction obstruction def: "Blockage of urine flow from the renal pelvis to the proximal ureter." [Eurenomics:ewuehl] synonym: "Pelviureteric junction obstruction" EXACT [] xref: MSH:C537373 xref: SNOMEDCT_US:95575002 xref: UMLS:C0521619 is_a: HP:0000071 ! Ureteral stenosis [Term] id: HP:0000075 name: Renal duplication def: "A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters." [HPO:probinson] synonym: "Extra kidney" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Supernumerary kidney" RELATED [] xref: SNOMEDCT_US:30275001 xref: UMLS:C0266298 is_a: HP:0012210 ! Abnormal renal morphology created_by: peter creation_date: 2008-02-25T12:45:00Z [Term] id: HP:0000076 name: Vesicoureteral reflux alt_id: HP:0005998 alt_id: HP:0006002 alt_id: HP:0008667 def: "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:probinson] synonym: "Ureteral reflux" EXACT [] synonym: "Ureteric reflux" EXACT [] synonym: "Vesicoureteric reflux" EXACT [] xref: Fyler:4510 xref: MSH:D014718 xref: SNOMEDCT_US:197811007 xref: UMLS:C0042580 is_a: HP:0000009 ! Functional abnormality of the bladder is_a: HP:0025634 ! Abnormal ureter physiology [Term] id: HP:0000077 name: Abnormality of the kidney def: "An abnormality of the kidney." [HPO:probinson] comment: The kidney is a paired organ whose primary function is the production of urine. synonym: "Abnormal kidney" EXACT layperson [] synonym: "Abnormality of the kidney" EXACT layperson [] synonym: "Renal anomalies" EXACT [] synonym: "Renal anomaly" EXACT [] xref: MSH:D007674 xref: SNOMEDCT_US:44513007 xref: SNOMEDCT_US:90708001 xref: UMLS:C0022658 xref: UMLS:C0266292 is_a: HP:0010935 ! Abnormality of the upper urinary tract [Term] id: HP:0000078 name: Abnormality of the genital system def: "An abnormality of the genital system." [HPO:probinson] synonym: "Abnormality of the reproductive system" RELATED layperson [] synonym: "Genital abnormalities" EXACT layperson [] synonym: "Genital abnormality" EXACT layperson [] synonym: "Genital anomalies" EXACT layperson [] synonym: "Genital defects" EXACT layperson [] xref: UMLS:C0281966 xref: UMLS:C0744356 is_a: HP:0000119 ! Abnormality of the genitourinary system [Term] id: HP:0000079 name: Abnormality of the urinary system def: "An abnormality of the urinary system." [HPO:probinson] synonym: "Urinary tract abnormalities" EXACT layperson [] synonym: "Urinary tract abnormality" EXACT layperson [] synonym: "Urinary tract anomalies" EXACT layperson [] xref: UMLS:C4021821 is_a: HP:0000119 ! Abnormality of the genitourinary system [Term] id: HP:0000080 name: Abnormality of reproductive system physiology def: "An abnormal functionality of the genital system." [HPO:probinson] synonym: "Abnormality of genital physiology" BROAD layperson [] synonym: "Abnormality of reproductive system physiology" EXACT layperson [] synonym: "Genital functional abnormality" EXACT layperson [] xref: UMLS:C4020896 xref: UMLS:C4021820 is_a: HP:0000078 ! Abnormality of the genital system [Term] id: HP:0000081 name: Duplicated collecting system def: "A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice." [HPO:probinson] synonym: "Double collecting system" EXACT [] synonym: "Double urinary collecting systems on intravenous pyelography" EXACT [] synonym: "Duplex collecting system" EXACT [] synonym: "Duplicated renal collecting system" EXACT [] xref: UMLS:C1858565 is_a: HP:0004742 ! Abnormal renal collecting system morphology created_by: peter creation_date: 2008-02-25T12:45:00Z [Term] id: HP:0000083 name: Renal insufficiency alt_id: HP:0000084 alt_id: HP:0004723 def: "A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism." [HPO:probinson] synonym: "Renal failure" EXACT layperson [] synonym: "Renal failure in adulthood" EXACT layperson [] xref: MSH:D051437 xref: SNOMEDCT_US:236423003 xref: SNOMEDCT_US:42399005 xref: UMLS:C0035078 xref: UMLS:C1565489 xref: UMLS:C1839604 is_a: HP:0012211 ! Abnormal renal physiology [Term] id: HP:0000085 name: Horseshoe kidney def: "A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline." [HPO:probinson] synonym: "Fused kidneys" BROAD [] synonym: "Horseshoe kidney" EXACT layperson [] synonym: "Horseshoe kidneys" EXACT layperson [] xref: Fyler:4507 xref: MSH:D000069337 xref: SNOMEDCT_US:41729002 xref: UMLS:C0221353 is_a: HP:0100542 ! Abnormal localization of kidney [Term] id: HP:0000086 name: Ectopic kidney def: "A developmental defect in which a kidney is located in an abnormal anatomic position." [HPO:probinson] synonym: "Abnormal kidney location" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Displaced kidney" EXACT layperson [] synonym: "Ectopic kidneys" EXACT [] synonym: "Renal ectopia" EXACT [] xref: SNOMEDCT_US:16507009 xref: UMLS:C0238207 is_a: HP:0100542 ! Abnormal localization of kidney [Term] id: HP:0000089 name: Renal hypoplasia alt_id: HP:0001968 alt_id: HP:0004741 alt_id: HP:0008641 def: "Hypoplasia of the kidney." [HPO:probinson] comment: Oligomeganephronic renal hypoplasia differs from simple hypoplasia, in which the renal mass is reduced but the number of nephrons is normal. synonym: "Hypoplastic kidney" EXACT [] synonym: "Hypoplastic kidneys" EXACT [] synonym: "Small kidneys" EXACT layperson [] synonym: "Underdeveloped kidneys" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:32659003 xref: UMLS:C0266295 is_a: HP:0008678 ! Renal hypoplasia/aplasia [Term] id: HP:0000090 name: Nephronophthisis alt_id: HP:0004748 def: "Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis." [Eurenomics:fschaefer] comment: Nephronophthisis is here regarded as a phenotypic feature. The disease of the same name results in progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli. synonym: "juvenile nephronophthisis" EXACT [] xref: SNOMEDCT_US:204958008 xref: UMLS:C0687120 is_a: HP:0100957 ! Abnormal renal medulla morphology [Term] id: HP:0000091 name: Abnormal renal tubule morphology def: "An abnormality of the renal tubules." [HPO:probinson] comment: The renal tubules are reabsorptive canals that are involved in the secreting, collecting, and conducting of the urine. synonym: "Abnormality of the renal tubule" EXACT [] xref: UMLS:C4021826 is_a: HP:0012575 ! Abnormal nephron morphology [Term] id: HP:0000092 name: Tubular atrophy alt_id: HP:0005578 def: "The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules." [HPO:probinson] synonym: "Renal tubular cell atrophy" EXACT [] xref: UMLS:C1858395 is_a: HP:0000091 ! Abnormal renal tubule morphology [Term] id: HP:0000093 name: Proteinuria def: "Increased levels of protein in the urine." [HPO:probinson] synonym: "High urine protein levels" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Protein in urine" EXACT layperson [] xref: MSH:D011507 xref: SNOMEDCT_US:29738008 xref: UMLS:C0033687 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0000095 name: Abnormality of renal glomerulus morphology def: "A structural anomaly of the glomerulus." [Eurenomics:ewuehl] xref: UMLS:C4025889 is_a: HP:0012575 ! Abnormal nephron morphology is_a: HP:0031263 ! Abnormal renal corpuscle morphology [Term] id: HP:0000096 name: Glomerulosclerosis alt_id: HP:0030761 def: "Accumulation of scar tissue within the glomerulus." [Eurenomics:fschaefer] synonym: "Renal glomerular fibrosis" BROAD [] xref: SNOMEDCT_US:197661001 xref: SNOMEDCT_US:82646005 xref: UMLS:C0178664 is_a: HP:0000095 ! Abnormality of renal glomerulus morphology [Term] id: HP:0000097 name: Focal segmental glomerulosclerosis alt_id: HP:0004747 def: "Segmental accumulation of scar tissue in individual (but not all) glomeruli." [Eurenomics:fschaefer] synonym: "Focal and segmental glomerular sclerosis" EXACT [] synonym: "Focal and segmental glomerulosclerosis" EXACT [] synonym: "focal glomerulosclerosis" EXACT [] xref: MSH:D005923 xref: SNOMEDCT_US:236403004 xref: SNOMEDCT_US:25821008 xref: UMLS:C0017668 is_a: HP:0000096 ! Glomerulosclerosis [Term] id: HP:0000098 name: Tall stature alt_id: HP:0001527 alt_id: HP:0003515 alt_id: HP:0003516 def: "A height above that which is expected according to age and gender norms." [HPO:probinson] synonym: "Accelerated linear growth" EXACT [] synonym: "Increased body height" EXACT layperson [] synonym: "Increased linear growth" EXACT [] synonym: "Tall stature" EXACT layperson [] xref: SNOMEDCT_US:248328003 xref: UMLS:C0241240 is_a: HP:0000002 ! Abnormality of body height created_by: peter creation_date: 2008-02-27T02:21:00Z [Term] id: HP:0000099 name: Glomerulonephritis def: "Inflammation of the renal glomeruli." [HPO:probinson] synonym: "Glomerular nephritis" EXACT [] xref: MSH:D005921 xref: SNOMEDCT_US:36171008 xref: UMLS:C0017658 is_a: HP:0000095 ! Abnormality of renal glomerulus morphology is_a: HP:0000123 ! Nephritis [Term] id: HP:0000100 name: Nephrotic syndrome alt_id: HP:0000801 alt_id: HP:0004718 alt_id: HP:0008638 alt_id: HP:0008727 def: "Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia." [HPO:probinson] comment: In adults, nephrotic syndrome is characterized by protein excretion of 3.5 g or more per day. In children, nephrotic syndrome is accompanied by protein excretion of more than 40 mg/m2/h. synonym: "Nephrosis" EXACT [] xref: MSH:D009404 xref: SNOMEDCT_US:52254009 xref: UMLS:C0027726 is_a: HP:0012211 ! Abnormal renal physiology [Term] id: HP:0000103 name: Polyuria alt_id: HP:0200060 def: "An increased rate of urine production." [HPO:probinson] comment: An excessive volume of urination for an adult is more than 2.5 liters of urine per day. synonym: "Increased urine output" EXACT layperson [] xref: MSH:D011141 xref: SNOMEDCT_US:28442001 xref: SNOMEDCT_US:56574000 xref: SNOMEDCT_US:718402002 xref: UMLS:C0032617 is_a: HP:0012590 ! Abnormal urine output [Term] id: HP:0000104 name: Renal agenesis alt_id: HP:0000785 alt_id: HP:0004745 alt_id: HP:0008680 def: "Agenesis, that is, failure of the kidney to develop during embryogenesis and development." [HPO:probinson] comment: Renal agenesis can occur as a unilateral or bilateral trait. synonym: "Absent kidney" EXACT layperson [] synonym: "Missing kidney" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Renal aplasia" EXACT [] xref: Fyler:4503 xref: SNOMEDCT_US:204942005 xref: UMLS:C0542519 is_a: HP:0008678 ! Renal hypoplasia/aplasia [Term] id: HP:0000105 name: Enlarged kidney def: "An abnormal increase in the size of the kidney." [HPO:probinson] comment: The main causes of large kidney are hydronephrosis, polycystic disease, renal cell carcinoma, nephroblastoma/Wilm's tumor (in children), and solitary cysts. If possible, a specific term should be used instead of this one. There are several ways of diagnosing enlarged kidney including intravenous urography. synonym: "Enlarged kidney" EXACT layperson [] synonym: "Large kidney" RELATED [] synonym: "Large kidneys" EXACT layperson [] synonym: "Nephromegaly" EXACT [] synonym: "Renal enlargement" EXACT [] xref: SNOMEDCT_US:300444006 xref: UMLS:C0542518 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000107 name: Renal cyst alt_id: HP:0000088 alt_id: HP:0000109 def: "A fluid filled sac in the kidney." [Eurenomics:fschaefer] synonym: "Cystic kidney disease" RELATED layperson [] synonym: "Cystic kidneys" RELATED layperson [HPO:skoehler] synonym: "Kidney cyst" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Renal cysts" RELATED [HPO:skoehler] xref: MSH:D052177 xref: UMLS:C0022679 xref: UMLS:C3887499 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000108 name: Renal corticomedullary cysts def: "The presence of multiple cysts at the border between the renal cortex and medulla." [HPO:probinson] synonym: "Corticomedullary renal cysts" EXACT [] synonym: "Renal corticomedullary cystic disease" RELATED [] xref: UMLS:C1968619 is_a: HP:0000107 ! Renal cyst is_a: HP:0011035 ! Abnormal renal cortex morphology is_a: HP:0100957 ! Abnormal renal medulla morphology [Term] id: HP:0000110 name: Renal dysplasia alt_id: HP:0000116 alt_id: HP:0004721 def: "The presence of developmental dysplasia of the kidney." [HPO:probinson] synonym: "Dysplastic kidneys" EXACT [] synonym: "Renal adysplasia" EXACT [] xref: MSH:C563261 xref: SNOMEDCT_US:204949001 xref: UMLS:C1619700 xref: UMLS:C3536714 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000111 name: Renal juxtaglomerular cell hypertrophy/hyperplasia def: "Increased number and size of the juxtaglomerular cells." [Eurenomics:ewuehl] xref: UMLS:C1866496 is_a: HP:0000095 ! Abnormality of renal glomerulus morphology [Term] id: HP:0000112 name: Nephropathy def: "A nonspecific term referring to disease or damage of the kidneys." [HPO:curators] synonym: "Kidney damage" BROAD layperson [ORCID:0000-0001-6908-9849] synonym: "Kidney disease" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D007674 xref: SNOMEDCT_US:90708001 xref: UMLS:C0022658 xref: UMLS:C1408258 is_a: HP:0012211 ! Abnormal renal physiology [Term] id: HP:0000113 name: Polycystic kidney dysplasia alt_id: HP:0004716 alt_id: HP:0004739 alt_id: HP:0004740 alt_id: HP:0008645 alt_id: HP:0008673 alt_id: HP:0008699 def: "The presence of multiple cysts in both kidneys." [HPO:probinson] comment: Polycystic kidney disease (PKD) is a leading cause of end-stage renal disease. Most commonly, PKD arises as an inherited trait. Tremendous enlargement of both kidneys is characteristic of the autosomal dominant form of PKD, with up to hundreds or thousands of renal cysts. This term does not refer to the disease entity but rather to the finding of numerous cysts in both kidneys. synonym: "Enlarged polycystic kidneys" EXACT [] synonym: "Polycystic kidney disease" RELATED [] synonym: "Polycystic kidneys" EXACT [] xref: Fyler:4508 xref: MSH:D007690 xref: SNOMEDCT_US:82525005 xref: UMLS:C0022680 xref: UMLS:C1567435 is_a: HP:0000107 ! Renal cyst [Term] id: HP:0000114 name: Proximal tubulopathy alt_id: HP:0000806 def: "Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle." [HPO:probinson] synonym: "Proximal renal tubule defect" EXACT [] synonym: "Proximal renal tubulopathy" EXACT [] synonym: "Proximal tubular defect" EXACT [] synonym: "Proximal tubule dysfunction" EXACT [] synonym: "Selective proximal tubular damage" EXACT [] xref: UMLS:C1839603 is_a: HP:0000124 ! Renal tubular dysfunction [Term] id: HP:0000117 name: Renal phosphate wasting def: "High urine phosphate in the presence of hypophosphatemia." [HPO:probinson] synonym: "Decreased renal tubular phosphate reabsorption" EXACT [] synonym: "Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate" EXACT [] synonym: "Tubular phosphate reabsorption low" EXACT [] xref: UMLS:C1845169 is_a: HP:0012599 ! Abnormal urine phosphate concentration [Term] id: HP:0000118 name: Phenotypic abnormality def: "A phenotypic abnormality." [HPO:probinson] comment: This is the root of the phenotypic abnormality subontology of the HPO. synonym: "Organ abnormality" EXACT [] xref: UMLS:C4021819 is_a: HP:0000001 ! All [Term] id: HP:0000119 name: Abnormality of the genitourinary system alt_id: HP:0008658 alt_id: HP:0008688 alt_id: HP:0008704 alt_id: HP:0008713 def: "The presence of any abnormality of the genitourinary system." [HPO:curators] synonym: "Abnormality of the GU system" EXACT HP:0045077 [] synonym: "Genitourinary abnormality" EXACT [] synonym: "Genitourinary disease" RELATED [] synonym: "Genitourinary dysplasia" RELATED [] synonym: "Genitourinary tract anomalies" EXACT [] synonym: "Genitourinary tract malformation" EXACT [] synonym: "Urogenital abnormalities" EXACT [] synonym: "Urogenital anomalies" EXACT [] xref: MSH:D014564 xref: SNOMEDCT_US:287085006 xref: SNOMEDCT_US:42030000 xref: UMLS:C0042063 xref: UMLS:C0080276 xref: UMLS:C4020895 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000121 name: Nephrocalcinosis def: "Nephrocalcinosis is the deposition of calcium salts in renal parenchyma." [HPO:probinson] comment: Nephrocalcinosis can be intratubular or interstitial, and can be diagnosed by means of a radiologic exam (plain radiographs, ultrasonograms, or computed tomography scans) or via microscopic examination of the renal tissues. The term nephrocalcinosis most often applies to a generalized increase in renal calcium content. synonym: "Increased calcium level in kidney" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Too much calcium deposited in kidneys" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D009397 xref: SNOMEDCT_US:48638002 xref: UMLS:C0027709 xref: UMLS:C4280679 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000122 name: Unilateral renal agenesis def: "A unilateral form of agenesis of the kidney." [HPO:probinson] synonym: "Absent kidney on one side" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Missing one kidney" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Single kidney" EXACT layperson [] synonym: "Unilateral kidney agenesis" EXACT [] xref: Fyler:4509 xref: SNOMEDCT_US:55726006 xref: UMLS:C0266294 is_a: HP:0000104 ! Renal agenesis [Term] id: HP:0000123 name: Nephritis alt_id: HP:0008634 def: "The presence of inflammation affecting the kidney." [HPO:probinson] synonym: "Kidney inflammation" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D009393 xref: SNOMEDCT_US:52845002 xref: UMLS:C0027697 is_a: HP:0012211 ! Abnormal renal physiology is_a: HP:0012649 ! Increased inflammatory response [Term] id: HP:0000124 name: Renal tubular dysfunction def: "Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid." [] synonym: "Abnormal function of filtrating structures in kidney" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Renal tubular defect" EXACT [] synonym: "Renal tubular disease" RELATED [] xref: SNOMEDCT_US:95568003 xref: UMLS:C0151747 is_a: HP:0012211 ! Abnormal renal physiology [Term] id: HP:0000125 name: Pelvic kidney def: "A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis." [HPO:probinson] synonym: "Sacral kidney" EXACT [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:56108007 xref: UMLS:C0221209 is_a: HP:0000086 ! Ectopic kidney [Term] id: HP:0000126 name: Hydronephrosis def: "Severe distention of the kidney with dilation of the renal pelvis and calices." [HPO:probinson] comment: Hydronephrosis can be caused by reflux or by retrograde pressure on the kidney when the flow of urine is obstructed. xref: Fyler:4502 xref: MSH:D006869 xref: SNOMEDCT_US:43064006 xref: UMLS:C0020295 is_a: HP:0010946 ! Dilatation of the renal pelvis [Term] id: HP:0000127 name: Renal salt wasting def: "A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s)." [Eurenomics:fschaefer] synonym: "Loss of salt in urine" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Renal salt-wasting" EXACT [] synonym: "Salt wasting" EXACT [] synonym: "Salt-wasting" EXACT [] xref: UMLS:C1846347 is_a: HP:0012591 ! Abnormal urinary electrolyte concentration [Term] id: HP:0000128 name: Renal potassium wasting def: "High urine potassium in the presence of hypokalemia." [HPO:probinson] comment: A urine potassium assay can be used to determine the cause of reduced serum potassium (hypokalemia). Normally, the kidney will reabsorb more potassium in the presence of hypokalemia. Therefore, a low urine potassium can suggest gastrointestinal potassium loss, poor dietary intake, or a shift of potassium from the extracellular to the intracellular space. On the other hand, a high urine potassium in the face of low serum potassium indicated renal loss, referred to as renal potassium wasting. synonym: "Renal K wasting" EXACT HP:0045077 [] xref: UMLS:C1846348 is_a: HP:0012598 ! Abnormal urine potassium concentration [Term] id: HP:0000130 name: Abnormality of the uterus alt_id: HP:0008630 alt_id: HP:0008692 def: "An abnormality of the uterus." [HPO:probinson] synonym: "Abnormality of the uterus" EXACT layperson [] synonym: "Uterine abnormalities" EXACT layperson [] synonym: "Uterine malformations" EXACT layperson [] xref: MSH:C562565 xref: SNOMEDCT_US:37849005 xref: UMLS:C0266383 is_a: HP:0000008 ! Abnormality of female internal genitalia [Term] id: HP:0000131 name: Uterine leiomyoma alt_id: HP:0008642 def: "The presence of a leiomyoma of the uterus." [HPO:probinson] comment: Leiomyoma is a benign neoplasm derived from smooth muscle cells. synonym: "Benign uterine leiomyomas" EXACT [] synonym: "Uterine fibroid" EXACT [] xref: MSH:D007889 xref: NCIT:C3157 xref: SNOMEDCT_US:146801000119103 xref: SNOMEDCT_US:44598004 xref: SNOMEDCT_US:95315005 xref: UMLS:C0042133 is_a: HP:0010784 ! Uterine neoplasm [Term] id: HP:0000132 name: Menorrhagia alt_id: HP:0100609 def: "Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days." [HPO:probinson, pmid:22594864] synonym: "Abnormally heavy bleeding during menstruation" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hypermenorrhea" EXACT [pmid:22594864] xref: MSH:D008595 xref: SNOMEDCT_US:386692008 xref: UMLS:C0025323 is_a: HP:0000140 ! Abnormality of the menstrual cycle is_a: HP:0001892 ! Abnormal bleeding [Term] id: HP:0000133 name: Gonadal dysgenesis alt_id: HP:0003243 synonym: "Mixed gonadal dysgenesis" EXACT [] synonym: "Pure gonadal dysgenesis" EXACT [] xref: MSH:D006059 xref: MSH:D006060 xref: SNOMEDCT_US:205681004 xref: SNOMEDCT_US:38804009 xref: SNOMEDCT_US:83579008 xref: SNOMEDCT_US:95219002 xref: UMLS:C0018051 xref: UMLS:C0018055 xref: UMLS:C0687149 is_a: HP:0000812 ! Abnormal internal genitalia [Term] id: HP:0000134 name: Female hypogonadism def: "Decreased functionality of the female gonads, i.e., of the ovary." [HPO:probinson] synonym: "Hypogonadism, female" EXACT [] xref: SNOMEDCT_US:16041008 xref: UMLS:C0271578 is_a: HP:0000135 ! Hypogonadism is_a: HP:0031066 ! Abnormal ovarian physiology [Term] id: HP:0000135 name: Hypogonadism def: "A decreased functionality of the gonad." [HPO:curators] comment: Reduced functioning of the gonads (ovaries or testes) with reduced production of sex hormones. synonym: "Decreased activity of gonads" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D007006 xref: SNOMEDCT_US:48130008 xref: UMLS:C0020619 is_a: HP:0000080 ! Abnormality of reproductive system physiology is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0000136 name: Bifid uterus def: "The presence of a bifid uterus." [HPO:probinson] comment: A uterus that is divided into two lateral horns as a result of imperfect fusion of the paramesonephric ducts. xref: UMLS:C1850327 is_a: HP:0031105 ! Abnormal uterus morphology [Term] id: HP:0000137 name: Abnormality of the ovary def: "An abnormality of the ovary." [HPO:probinson] synonym: "Abnormality of the ovaries" EXACT layperson [] synonym: "Abnormality of the ovary" EXACT layperson [] synonym: "Ovarian disease" RELATED layperson [] xref: MSH:D010049 xref: SNOMEDCT_US:5552004 xref: UMLS:C0029928 xref: UMLS:C4021818 is_a: HP:0000008 ! Abnormality of female internal genitalia [Term] id: HP:0000138 name: Ovarian cyst alt_id: HP:0000146 def: "The presence of one or more cysts of the ovary." [HPO:probinson] synonym: "Cystic abnormalities of the ovaries" EXACT [] synonym: "Cystic ovaries" EXACT [] synonym: "Ovarian cyst" EXACT layperson [] synonym: "Ovarian cystic abnormality" EXACT [] xref: MSH:D010048 xref: SNOMEDCT_US:79883001 xref: UMLS:C0029927 is_a: HP:0031065 ! Abnormal ovarian morphology [Term] id: HP:0000139 name: Uterine prolapse alt_id: HP:0100824 def: "The presence of prolapse of the uterus." [HPO:probinson] comment: The uterus (womb) is normally held in place by a muscles, tissue and ligaments. If these tissues can no longer support the uterus it can slip down from its normal position. synonym: "Sagging uterus" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D014596 xref: SNOMEDCT_US:24976005 xref: UMLS:C0042140 is_a: HP:0031105 ! Abnormal uterus morphology is_a: HP:0100823 ! Genital hernia [Term] id: HP:0000140 name: Abnormality of the menstrual cycle def: "An abnormality of the ovulation cycle." [HPO:probinson] synonym: "Abnormality of the menstrual cycle" EXACT layperson [] synonym: "Menstrual abnormalities" RELATED layperson [] xref: UMLS:C3549779 xref: UMLS:C4025888 is_a: HP:0000008 ! Abnormality of female internal genitalia is_a: HP:0000858 ! Menstrual irregularities [Term] id: HP:0000141 name: Amenorrhea def: "Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months." [pmid:22594864] synonym: "Abnormal absence of menstruation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C2219717 is_a: HP:0000140 ! Abnormality of the menstrual cycle [Term] id: HP:0000142 name: Abnormal vagina morphology alt_id: HP:0008650 def: "Any structural abnormality of the vagina." [HPO:probinson] synonym: "Vaginal malformation" EXACT [] xref: UMLS:C1856023 is_a: HP:0000008 ! Abnormality of female internal genitalia [Term] id: HP:0000143 name: Rectovaginal fistula def: "The presence of a fistula between the vagina and the rectum." [HPO:probinson] subset: hposlim_core synonym: "Abnormal connection between rectum and vagina" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MEDDRA:10051097 "Rectovaginal fistula" xref: MSH:D012006 xref: SNOMEDCT_US:65619001 xref: UMLS:C0034895 is_a: HP:0004320 ! Vaginal fistula is_a: HP:0100590 ! Rectal fistula [Term] id: HP:0000144 name: Decreased fertility synonym: "Abnormal fertility" EXACT layperson [HPO:skoehler] synonym: "Decreased fertility" EXACT layperson [] xref: SNOMEDCT_US:17276009 xref: UMLS:C0520927 is_a: HP:0000080 ! Abnormality of reproductive system physiology [Term] id: HP:0000145 name: Transverse vaginal septum synonym: "Transverse vaginal membrane" EXACT [] xref: UMLS:C1856006 is_a: HP:0001153 ! Septate vagina [Term] id: HP:0000147 name: Polycystic ovaries alt_id: HP:0008644 alt_id: HP:0008657 synonym: "Polycystic ovary" EXACT [] synonym: "Polycystic ovary disease" RELATED [] synonym: "Sclerocystic ovaries" EXACT [] xref: MSH:D011085 xref: SNOMEDCT_US:69878008 xref: UMLS:C0032460 xref: UMLS:C1136382 is_a: HP:0000138 ! Ovarian cyst [Term] id: HP:0000148 name: Vaginal atresia def: "Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion." [HPO:probinson] synonym: "Abnormally closed or absent vagina" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:87380008 xref: UMLS:C1321884 is_a: HP:0000142 ! Abnormal vagina morphology is_a: HP:0001827 ! Genital tract atresia [Term] id: HP:0000149 name: Ovarian gonadoblastoma def: "The presence of a gonadoblastoma of the ovary." [eMedicine:986581, HPO:probinson] comment: Gonadoblastoma is a rare benign tumor that has the potential for malignant transformation and affects a subset of patients with an intersex disorder or disorder of sex development. synonym: "Gonadoblastoma, female" EXACT [] xref: NCIT:C3754 xref: SNOMEDCT_US:716594002 xref: UMLS:C1518716 is_a: HP:0000150 ! Gonadoblastoma is_a: HP:0100615 ! Ovarian neoplasm [Term] id: HP:0000150 name: Gonadoblastoma alt_id: HP:0006745 def: "The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements." [HPO:probinson] xref: MSH:D018238 xref: NCIT:C3754 xref: SNOMEDCT_US:74751003 xref: UMLS:C0206661 is_a: HP:0000812 ! Abnormal internal genitalia is_a: HP:0100728 ! Germ cell neoplasia [Term] id: HP:0000151 name: Aplasia of the uterus def: "Aplasia of the uterus." [HPO:probinson] synonym: "Absent uterus" EXACT layperson [] synonym: "uterus absent" EXACT layperson [] xref: SNOMEDCT_US:248942000 xref: UMLS:C0425913 is_a: HP:0008684 ! Aplasia/hypoplasia of the uterus [Term] id: HP:0000152 name: Abnormality of head or neck def: "An abnormality of head and neck." [HPO:probinson] synonym: "Abnormality of head or neck" EXACT layperson [] synonym: "Head and neck abnormality" EXACT layperson [] xref: UMLS:C4021817 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000153 name: Abnormality of the mouth def: "An abnormality of the mouth." [HPO:probinson] subset: hposlim_core synonym: "Abnormal mouth" EXACT layperson [HPO:skoehler] synonym: "Abnormality of the mouth" EXACT layperson [] xref: MSH:D009056 xref: SNOMEDCT_US:128334002 xref: UMLS:C0026633 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000154 name: Wide mouth alt_id: HP:0000181 alt_id: HP:0002052 def: "Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective)." [pmid:19125428] comment: The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces macrostomia, large mouth, and large oral aperture because these terms imply a wide and open mouth. The term should not be used to describe a patient with a lateral oral cleft. subset: hposlim_core synonym: "Broad mouth" EXACT layperson [] synonym: "Large mouth" EXACT layperson [] synonym: "Large oral aperture" EXACT [ORCID:0000-0001-5889-4463] synonym: "Macrostomia" EXACT [] synonym: "Wide mouth" EXACT layperson [] xref: MSH:D008265 xref: SNOMEDCT_US:40159009 xref: UMLS:C0024433 is_a: HP:0011337 ! Abnormality of mouth size [Term] id: HP:0000155 name: Oral ulcer def: "Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue." [HPO:probinson] subset: hposlim_core synonym: "Mouth sore" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Mouth ulcer" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D019226 xref: SNOMEDCT_US:26284000 xref: UMLS:C0149745 is_a: HP:0011830 ! Abnormal oral mucosa morphology [Term] id: HP:0000157 name: Abnormality of the tongue def: "Any abnormality of the tongue." [HPO:probinson] subset: hposlim_core synonym: "Abnormal tongue" EXACT layperson [HPO:skoehler] synonym: "Abnormality of the tongue" EXACT layperson [] synonym: "Glossal abnormality" EXACT [ORCID:0000-0001-5889-4463] synonym: "Lingual abnormality" EXACT [ORCID:0000-0001-5889-4463] synonym: "Tongue abnormality" EXACT layperson [] xref: UMLS:C0878638 is_a: HP:0000163 ! Abnormal oral cavity morphology [Term] id: HP:0000158 name: Macroglossia alt_id: HP:0000203 def: "Increased length and width of the tongue." [pmid:19125428] comment: Normal standards do not exist. Large size usually leads to protrusion of the tongue. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained. Micrognathia may give the false appearance of a large tongue. subset: hposlim_core synonym: "Abnormally large tongue" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Glossal hypertrophy" BROAD [ORCID:0000-0001-5889-4463] synonym: "Hyperplasia of the tongue" EXACT [] synonym: "Hypertrophy of the tongue" EXACT [] synonym: "Increased size of tongue" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Large tongue" EXACT layperson [] synonym: "Lingual hyperplasia" BROAD [ORCID:0000-0001-5889-4463] synonym: "Lingual hypertrophy" BROAD [ORCID:0000-0001-5889-4463] synonym: "Tongue hypertrophy" EXACT [] xref: MSH:D008260 xref: SNOMEDCT_US:25273001 xref: UMLS:C0024421 is_a: HP:0003712 ! Skeletal muscle hypertrophy is_a: HP:0030809 ! Abnormal tongue morphology [Term] id: HP:0000159 name: Abnormal lip morphology def: "An abnormality of the lip." [HPO:probinson] synonym: "Abnormal lip" EXACT layperson [HPO:skoehler] synonym: "Abnormality of the lip" EXACT layperson [] synonym: "Anomaly of lip" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Deformity of lip" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Lip abnormality" EXACT layperson [] synonym: "Malformation of lip" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C2183966 is_a: HP:0000163 ! Abnormal oral cavity morphology [Term] id: HP:0000160 name: Narrow mouth alt_id: HP:0002261 alt_id: HP:0009095 alt_id: HP:0009096 def: "Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective)." [pmid:19125428] comment: The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces microstomia, small oral aperture, and small mouth because the reduced opening of the mouth is secondary to reduced width. subset: hposlim_core synonym: "Microstomia" EXACT [] synonym: "Narrow mouth" EXACT layperson [] synonym: "Small mouth" EXACT layperson [] synonym: "Small oral aperture" EXACT [] xref: MSH:D008865 xref: SNOMEDCT_US:14582003 xref: UMLS:C0026034 is_a: HP:0011337 ! Abnormality of mouth size [Term] id: HP:0000161 name: Median cleft lip def: "A type of cleft lip presenting as a midline (median) gap in the upper lip." [HPO:probinson] subset: hposlim_core synonym: "Central cleft upper lip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Midline cleft lip" EXACT [] xref: UMLS:C1850256 is_a: HP:0000204 ! Cleft upper lip [Term] id: HP:0000162 name: Glossoptosis def: "Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly." [HPO:probinson, pmid:19125428] comment: Presumably, use of the suffix ptosis refers to the situation where the patient is supine, and the displacement is downward. Strictly speaking, the term glossoptosis indicates falling of the tongue and thus can also be forward displacement; however by convention it is only used for backward displacement. Glossoptosis may cause obstruction of the airway. subset: hposlim_core synonym: "Lingual retraction" EXACT [ORCID:0000-0001-5889-4463] synonym: "Posterior displacement of the tongue" BROAD [ORCID:0000-0001-5889-4463] synonym: "Retraction of the tongue" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D065710 xref: SNOMEDCT_US:3639002 xref: UMLS:C0267048 xref: UMLS:C4280678 is_a: HP:0030809 ! Abnormal tongue morphology [Term] id: HP:0000163 name: Abnormal oral cavity morphology def: "Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth." [HPO:probinson] synonym: "Abnormality of the oral cavity" EXACT layperson [] xref: UMLS:C4025887 is_a: HP:0031816 ! Abnormal oral morphology [Term] id: HP:0000164 name: Abnormality of the dentition alt_id: HP:0001567 alt_id: HP:0006296 alt_id: HP:0006348 def: "Any abnormality of the teeth." [HPO:ibailleulforestier] comment: Any abnormality of the primary (deciduous) or permanent teeth. subset: hposlim_core synonym: "Abnormal dentition" EXACT layperson [] synonym: "Abnormal teeth" EXACT layperson [] synonym: "Abnormality of the teeth" RELATED layperson [] synonym: "Dental abnormalities" EXACT layperson [] synonym: "Dental abnormality" EXACT layperson [] synonym: "Dental anomalies" EXACT HP:0045078 [] synonym: "Dental problem" RELATED layperson [] synonym: "Dental problems" RELATED layperson [] synonym: "Tooth abnormalities" RELATED layperson [] xref: MSH:D014071 xref: SNOMEDCT_US:422775003 xref: UMLS:C0040427 xref: UMLS:C0262444 is_a: HP:0000163 ! Abnormal oral cavity morphology [Term] id: HP:0000166 name: Severe periodontitis def: "A severe form of periodontitis." [HPO:probinson] synonym: "Severe gum disease" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Severe periodontal disease" EXACT [ORCID:0000-0001-5889-4463] synonym: "Severe pyorrhea" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025886 is_a: HP:0000704 ! Periodontitis [Term] id: HP:0000168 name: Abnormality of the gingiva def: "Any abnormality of the gingiva (also known as gums)." [HPO:probinson] comment: The gingiva consists of the mucosal tissue that lies over the alveolar bone and around the base of the teeth. subset: hposlim_core synonym: "Abnormality of the gums" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Gingival abnormality" EXACT [] xref: UMLS:C4021816 is_a: HP:0011830 ! Abnormal oral mucosa morphology [Term] id: HP:0000169 name: Gingival fibromatosis def: "The presence of fibrosis of the gingiva." [HPO:probinson] comment: Gingival fibromatosis is characterized by a slowly progressive benign enlargement of the oral gingival tissues. Both genetic and pharmacologically induced forms of gingival fibromatosis are known. The most common genetic form, hereditary gingival fibromatosis (HGF), is usually transmitted as an autosomal dominant trait, although sporadic cases are common and autosomal recessive inheritance has been reported. subset: hposlim_core synonym: "Gingival fibroma" EXACT [] synonym: "Gingival fibrous nodules" EXACT [HPO:curators] synonym: "Hereditary gingival fibromatosis" NARROW [ORCID:0000-0001-5889-4463] synonym: "Idiopathic gingival hyperplasia" NARROW [ORCID:0000-0001-5889-4463] xref: MSH:C562884 xref: MSH:D005351 xref: NCIT:C3041 xref: SNOMEDCT_US:109620006 xref: SNOMEDCT_US:58569000 xref: UMLS:C0016049 xref: UMLS:C0399440 xref: UMLS:C4280677 is_a: HP:0000168 ! Abnormality of the gingiva is_a: HP:0010614 ! Fibroma [Term] id: HP:0000171 name: Microglossia alt_id: HP:0000226 alt_id: HP:0009079 def: "Decreased length and width of the tongue." [pmid:19125428] comment: Normal standards do not exist. The term aglossia is often used for extremely small tongue, but a nubbin of tongue tissue is almost always present and aglossia in sensu strictu is extremely rare. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained. subset: hposlim_core synonym: "Abnormally small tongue" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased size of tongue" EXACT [] synonym: "Hypoglossia" EXACT [] synonym: "Hypoplasia of the tongue" EXACT [] synonym: "Hypoplastic tongue" EXACT [] synonym: "Lingual hypoplasia" EXACT [] synonym: "Rudimentary tongue" EXACT [] synonym: "Small tongue" EXACT [] synonym: "Underdevelopment of the tongue" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D014060 xref: SNOMEDCT_US:249380003 xref: SNOMEDCT_US:32614006 xref: UMLS:C0025988 xref: UMLS:C0426492 is_a: HP:0010295 ! Aplasia/Hypoplasia of the tongue [Term] id: HP:0000172 name: Abnormality of the uvula def: "Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of palatine uvula" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the uvula" EXACT layperson [] xref: UMLS:C4025885 is_a: HP:0100736 ! Abnormal soft palate morphology [Term] id: HP:0000174 name: Abnormal palate morphology def: "Any abnormality of the palate, i.e., of roof of the mouth." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the palate" EXACT layperson [] synonym: "Abnormality of the roof of the mouth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Palatal anomaly" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Palate abnormality" EXACT [] xref: UMLS:C4021815 is_a: HP:0000163 ! Abnormal oral cavity morphology [Term] id: HP:0000175 name: Cleft palate alt_id: HP:0410004 def: "Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate)." [HPO:probinson] comment: Cleft palate is a developmental defect that occurs between the 7th and 12th week of pregnancy. Normally, the palatine processes fuse during this time to form the soft and hard palate. A failure of fusion results in a cleft palate. The clinical spectrum ranges from bifid uvula, to (incomplete or complete) cleft of the soft palate, up to (complete or incomplete) cleft of both the soft and hard palate. subset: hposlim_core synonym: "Cleft hard and soft palate" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Cleft of hard and soft palate" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Cleft of palate" EXACT [Facebase] synonym: "Cleft palate" EXACT layperson [] synonym: "Cleft roof of mouth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Cleft secondary palate" BROAD [] synonym: "Palatoschisis" EXACT [ORCID:0000-0001-5889-4463] synonym: "Uranostaphyloschisis" EXACT [ORCID:0000-0001-5889-4463] xref: Fyler:4876 xref: MSH:D002972 xref: SNOMEDCT_US:63567004 xref: SNOMEDCT_US:87979003 xref: UMLS:C0008925 xref: UMLS:C2981150 is_a: HP:0000202 ! Oral cleft is_a: HP:0100737 ! Abnormal hard palate morphology [Term] id: HP:0000176 name: Submucous cleft hard palate alt_id: HP:0000208 alt_id: HP:0002746 alt_id: HP:0009091 def: "Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate." [HPO:probinson, pmid:19779505] synonym: "Partial thickness cleft hard palate" EXACT [ORCID:0000-0001-5889-4463] synonym: "Submucosal cleft palate" EXACT [] synonym: "Submucous clefting" RELATED [] xref: SNOMEDCT_US:43437003 xref: UMLS:C0432103 xref: UMLS:C4020894 is_a: HP:0410031 ! Submucous cleft of soft and hard palate [Term] id: HP:0000177 name: Abnormality of upper lip def: "An abnormality of the upper lip." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of upper lip" EXACT layperson [] synonym: "Anomaly of the upper lip" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Deformity of the upper lip" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of the upper lip" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025884 is_a: HP:0000159 ! Abnormal lip morphology [Term] id: HP:0000178 name: Abnormality of lower lip def: "An abnormality of the lower lip." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of lower lip" EXACT layperson [] synonym: "Anomaly of the lower lip" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Deformity of the lower lip" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of the lower lip" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025883 is_a: HP:0000159 ! Abnormal lip morphology [Term] id: HP:0000179 name: Thick lower lip vermilion alt_id: HP:0000170 def: "Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective)." [HPO:curators, pmid:19125428] comment: Normal values for the height of the vermilion are available [Farkas, 1981] but measurements are not commonly used. Most clinicians determine this feature subjectively. The lower lip is typically thicker than the upper one. The height of the vermilion of the lower lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. When the vermilion is thick, it is more convex and more everted than usual on profile view, but that should be assessed separately. synonym: "Full lower lip" RELATED layperson [] synonym: "Full lower lip vermilion" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased height of lower lip vermilion" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased volume of lower lip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased volume of lower lip vermilion" EXACT [ORCID:0000-0001-5889-4463] synonym: "Plump lower lip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Prominent lower lip" EXACT layperson [] synonym: "Prominent lower lip vermilion" NARROW [ORCID:0000-0001-5889-4463] synonym: "Thick lower lip" RELATED layperson [] synonym: "Thick red part of the lower lip" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Thick vermilion border of lower lip" EXACT [] xref: UMLS:C1839739 xref: UMLS:C2053437 is_a: HP:0000178 ! Abnormality of lower lip is_a: HP:0012471 ! Thick vermilion border [Term] id: HP:0000180 name: Lobulated tongue def: "Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour." [pmid:19125428] comment: Lobulated tongue can bilobed, trilobed, or show multiple lobes. subset: hposlim_core synonym: "Bumpy tongue" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Lingual lobules" EXACT [ORCID:0000-0001-5889-4463] synonym: "Lobulate tongue" EXACT [] xref: SNOMEDCT_US:253752000 xref: UMLS:C0431564 is_a: HP:0030809 ! Abnormal tongue morphology [Term] id: HP:0000182 name: Movement abnormality of the tongue synonym: "Abnormality of lingual movement" EXACT [ORCID:0000-0001-5889-4463] synonym: "Movement abnormality of the tongue" EXACT layperson [] xref: UMLS:C4025882 is_a: HP:0030810 ! Abnormal tongue physiology [Term] id: HP:0000183 name: Difficulty in tongue movements synonym: "Difficulty in lingual movements" EXACT [ORCID:0000-0001-5889-4463] synonym: "Difficulty in tongue movements" EXACT layperson [] synonym: "Hypokinesia of the tongue" NARROW [ORCID:0000-0001-5889-4463] synonym: "Lingual hypokinesia" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C1853406 xref: UMLS:C4280676 is_a: HP:0000182 ! Movement abnormality of the tongue [Term] id: HP:0000185 name: Cleft soft palate def: "Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency." [HPO:curators] synonym: "Cleft muscular palate" EXACT [ORCID:0000-0001-5889-4463] synonym: "Cleft of soft palate" EXACT [ORCID:0000-0001-5208-3432] synonym: "Cleft velum" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:C562950 xref: SNOMEDCT_US:253997002 xref: UMLS:C0432098 is_a: HP:0000175 ! Cleft palate is_a: HP:0100736 ! Abnormal soft palate morphology [Term] id: HP:0000187 name: Broad alveolar ridges synonym: "Broad alveolar margins" EXACT [] synonym: "Broad alveolar processes of jaw" RELATED [ORCID:0000-0001-5889-4463] synonym: "Wide alveolar margins" RELATED [ORCID:0000-0001-5889-4463] synonym: "Wide alveolar processes of jaw" RELATED [ORCID:0000-0001-5889-4463] synonym: "Wide gum ridges" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Widened alveolar ridges" EXACT [] xref: UMLS:C1857500 xref: UMLS:C4280675 is_a: HP:0006477 ! Abnormality of the alveolar ridges [Term] id: HP:0000188 name: Short upper lip alt_id: HP:0200087 def: "Decreased width of the upper lip." [HPO:probinson] synonym: "Decreased height of upper lip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased upper labial height" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased upper labial length" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased vertical length of upper lip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Short upper lip" EXACT layperson [] synonym: "Shortening of upper lip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Vertical deficiency of upper lip" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1848977 is_a: HP:0000177 ! Abnormality of upper lip [Term] id: HP:0000189 name: Narrow palate def: "Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective)." [pmid:19125428] comment: Palatal width is measured as the distance between the maxillary first permanent molar on the right and left sides, at the lingual cervical line, using a specific device. Palate width is typically assessed subjectively in routine clinical practice. Narrowing is often associated with a High palate, but this should be assessed and coded separately. Gingival overgrowth can give the impression of a narrow palate but should be distinguished and coded separately. The term gothic palate is used to indicate that the roof of the palate is not round but rather has an inverted V-shape, and therefore, only the upper part of the palate is narrow. subset: hposlim_core synonym: "Decreased palatal width" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased transverse dimension of palate" EXACT [ORCID:0000-0001-5889-4463] synonym: "Narrow palate" EXACT layperson [] synonym: "Narrow roof of mouth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1398312 is_a: HP:0000174 ! Abnormal palate morphology [Term] id: HP:0000190 name: Abnormal oral frenulum morphology def: "An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity." [HPO:probinson, PMID:23633765] comment: A frenulum is a small frenum. There are several frena that are usually present in a normal oral cavity, most notably the maxillary labial frenum, the mandibular labial frenum, and the lingual frenum. synonym: "Abnormality of frenum of tongue" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of lingual frenum" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of oral frenula" EXACT [] synonym: "Abnormality of oral frenum" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025881 is_a: HP:0000163 ! Abnormal oral cavity morphology [Term] id: HP:0000191 name: Accessory oral frenulum def: "Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip." [pmid:19125428] comment: This finding is assessed by gently retracting the oral mucosa from the alveolar ridge. Typically there is a single maxillary and a single mandibular frenulum located in the midline between the two central incisors. Abnormalities of the alveolar ridges may accompany accessory frenula, but these should be assessed separately. subset: hposlim_core synonym: "Accessory oral frenum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Extra oral frenulum" EXACT [] synonym: "Extra oral frenum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Multiple oral frenula" EXACT [] synonym: "Supernumerary oral frenulum" EXACT [] synonym: "Supernumerary oral frenum" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4021814 is_a: HP:0000190 ! Abnormal oral frenulum morphology [Term] id: HP:0000193 name: Bifid uvula alt_id: HP:0000173 def: "Uvula separated into two parts most easily seen at the tip." [pmid:19125428] subset: hposlim_core synonym: "Bifid palatine uvula" EXACT [ORCID:0000-0001-5889-4463] synonym: "Cleft uvula" EXACT [] synonym: "Forked uvula" EXACT [ORCID:0000-0001-5889-4463] synonym: "Split uvula" EXACT [ORCID:0000-0001-5889-4463] synonym: "Uvula bifida" EXACT [] xref: SNOMEDCT_US:18910001 xref: UMLS:C0266122 is_a: HP:0000172 ! Abnormality of the uvula [Term] id: HP:0000194 name: Open mouth def: "A facial appearance characterized by a permanently or nearly permanently opened mouth." [HPO:probinson] synonym: "Gaped jawed appearance" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Gaped mouthed appearance" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Open mouth" EXACT layperson [] synonym: "Open mouth appearance" RELATED layperson [HPO:skoehler] synonym: "Slack jawed appearance" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:262016004 xref: UMLS:C0240379 is_a: HP:0011338 ! Abnormality of mouth shape [Term] id: HP:0000196 name: Lower lip pit def: "Depression located on the vermilion of the lower lip, usually paramedian." [HPO:sdoelken, pmid:19125428] comment: A lip pit may be connected by a fistula to mucous minor salivary glands in the lower lip. In addition, a lip pit may on occasion be seen with a surrounding tissue elevation (mound). Pits located at the labial commisure (cheilon) are distinct from lip pits (see Commissural pit). xref: UMLS:C1861544 is_a: HP:0000178 ! Abnormality of lower lip is_a: HP:0100269 ! Paramedian lip pit [Term] id: HP:0000197 name: Abnormal parotid gland morphology def: "Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear." [HPO:curators] synonym: "Abnormality of parotid gland" EXACT [] synonym: "Anomaly of the parotid gland" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025880 is_a: HP:0010286 ! Abnormal salivary gland morphology [Term] id: HP:0000198 name: Absence of Stensen duct synonym: "Absence of parotid duct" EXACT [ORCID:0000-0001-5889-4463] synonym: "Absent stensen duct" EXACT [] synonym: "Agenesis of parotid duct" NARROW [ORCID:0000-0001-5889-4463] synonym: "Agenesis of stensen duct" NARROW [ORCID:0000-0001-5889-4463] synonym: "Failure of development of parotid duct" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of stensen duct" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing parotid duct" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing stensen duct" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1858569 xref: UMLS:C4280674 is_a: HP:0000197 ! Abnormal parotid gland morphology [Term] id: HP:0000199 name: Tongue nodules synonym: "Lingual nodules" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C0241438 is_a: HP:0030809 ! Abnormal tongue morphology [Term] id: HP:0000200 name: Short lingual frenulum def: "The presence of an abnormally short lingual frenulum." [HPO:probinson] synonym: "Deficiency of lingual frenulum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypoplasia of lingual frenulum" BROAD [ORCID:0000-0001-5889-4463] synonym: "Hypoplasia of lingual frenum" BROAD [ORCID:0000-0001-5889-4463] synonym: "Hypoplasia of tongue frenulum" BROAD [ORCID:0000-0001-5889-4463] synonym: "Hypoplasia of tongue frenum" BROAD [ORCID:0000-0001-5889-4463] synonym: "Short lingual frenum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Short tongue frenulum" EXACT [] synonym: "Short tongue frenum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Tight lingual frenulum" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:249388005 xref: UMLS:C0426501 xref: UMLS:C4280673 is_a: HP:0000190 ! Abnormal oral frenulum morphology [Term] id: HP:0000201 name: Pierre-Robin sequence def: "Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate." [HPO:probinson] synonym: "Pierre Robin sequence" EXACT [] synonym: "Pierre-robin anomaly" EXACT [ORCID:0000-0001-5889-4463] synonym: "Pierre-robin deformity" EXACT [ORCID:0000-0001-5889-4463] synonym: "Pierre-robin malformation" EXACT [ORCID:0000-0001-5889-4463] synonym: "Robin sequence" EXACT [] xref: MSH:D010855 xref: SNOMEDCT_US:4602007 xref: UMLS:C0031900 is_a: HP:0031816 ! Abnormal oral morphology [Term] id: HP:0000202 name: Oral cleft def: "The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately." [HPO:probinson, PMID:21331089] synonym: "Cleft lip, cleft palate" NARROW [] synonym: "Cleft lip/palate" RELATED [] synonym: "Cleft of the mouth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Oral clefting" EXACT [] xref: SNOMEDCT_US:253983005 xref: SNOMEDCT_US:66948001 xref: UMLS:C0158646 xref: UMLS:C4021813 is_a: HP:0000163 ! Abnormal oral cavity morphology [Term] id: HP:0000204 name: Cleft upper lip def: "A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development." [HPO:probinson] synonym: "Cheiloschisis of upper lip" EXACT [ORCID:0000-0001-5889-4463] synonym: "Cleft of upper lip" RELATED layperson [] synonym: "Cleft upper lip" EXACT layperson [] synonym: "Harelip" EXACT layperson [ORCID:0000-0001-5889-4463] xref: Fyler:4875 xref: MSH:D002971 xref: SNOMEDCT_US:80281008 xref: UMLS:C0008924 is_a: HP:0000177 ! Abnormality of upper lip is_a: HP:0410030 ! Cleft lip [Term] id: HP:0000205 name: Pursed lips def: "An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance." [HPO:probinson] synonym: "Pursed lips" EXACT layperson [] synonym: "Tightly closed lips" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1832130 is_a: HP:0011338 ! Abnormality of mouth shape [Term] id: HP:0000206 name: Glossitis def: "Inflammation of the tongue." [HPO:sdoelken] subset: hposlim_core synonym: "Inflammation of the tongue" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Lingual inflammation" EXACT [ORCID:0000-0001-5889-4463] synonym: "Smooth swollen tongue" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D005928 xref: SNOMEDCT_US:45534005 xref: UMLS:C0017675 is_a: HP:0030809 ! Abnormal tongue morphology [Term] id: HP:0000207 name: Triangular mouth def: "The presence of a triangular form of the mouth." [HPO:probinson] synonym: "Triangular mouth" EXACT layperson [] synonym: "Triangular shaped mouth" EXACT layperson [] synonym: "Triangular shaped oral aperture" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1849341 is_a: HP:0011338 ! Abnormality of mouth shape [Term] id: HP:0000211 name: Trismus def: "Limitation in the ability to open the mouth." [HPO:curators] synonym: "Decrease in jaw mobility" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Decrease in jaw movement" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Decrease in jaw opening" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Decrease in mandibular mobility" BROAD [ORCID:0000-0001-5889-4463] synonym: "Decrease in mandibular movement" BROAD [ORCID:0000-0001-5889-4463] synonym: "Decrease in mandibular opening" BROAD [ORCID:0000-0001-5889-4463] synonym: "Limited jaw mobility" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Limited jaw movement" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Limited jaw opening" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Limited mandibular mobility" BROAD [ORCID:0000-0001-5889-4463] synonym: "Limited mandibular opening" BROAD [ORCID:0000-0001-5889-4463] synonym: "Limited mouth opening" BROAD layperson [] synonym: "Lockjaw" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Pain of muscles of mastication" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:D014313 xref: SNOMEDCT_US:87866006 xref: UMLS:C0041105 xref: UMLS:C1848474 xref: UMLS:C4228933 xref: UMLS:C4280672 is_a: HP:0000277 ! Abnormality of the mandible [Term] id: HP:0000212 name: Gingival overgrowth alt_id: HP:0000195 def: "Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown." [pmid:19125428] comment: This finding is to be distinguished from overgrowth of the alveolar ridge. subset: hposlim_core synonym: "Gingival enlargement" EXACT [ORCID:0000-0001-5889-4463] synonym: "Gingival hyperplasia" EXACT [] synonym: "Gum enlargement" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Gum hypertrophy" EXACT [] synonym: "Hypertrophic gingivitis" EXACT [] synonym: "Oral soft tissue hyperplasia" RELATED [] xref: MSH:D005885 xref: MSH:D005886 xref: MSH:D019214 xref: SNOMEDCT_US:441787004 xref: SNOMEDCT_US:441798003 xref: SNOMEDCT_US:54711002 xref: UMLS:C0017566 xref: UMLS:C0017567 xref: UMLS:C0376480 is_a: HP:0000168 ! Abnormality of the gingiva [Term] id: HP:0000214 name: Lip telangiectasia def: "Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips." [HPO:probinson] synonym: "Angioectasias of the lip" RELATED [ORCID:0000-0001-5889-4463] synonym: "Labial angioectasias" RELATED [ORCID:0000-0001-5889-4463] synonym: "Labial telangiectasia" EXACT [ORCID:0000-0001-5889-4463] synonym: "Lip telangiectases" EXACT [] synonym: "Spider veins of the lip" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Telangiectasia of the lips" EXACT [HPO:skoehler] xref: UMLS:C1857697 xref: UMLS:C4280670 xref: UMLS:C4280671 is_a: HP:0000159 ! Abnormal lip morphology is_a: HP:0000228 ! Oral cavity telangiectasia [Term] id: HP:0000215 name: Thick upper lip vermilion alt_id: HP:0000231 def: "Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective)." [pmid:19125428] comment: Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or utilize the Likert scale of Astley and Clarren [2000] (Fig. 17). The vermilion of the upper lip varies considerably among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thickness of the upper lip vermilion is sensitive to the facial expression. On profile view, a thick vermilion is more convex than usual. subset: hposlim_core synonym: "Full upper lip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Full upper lip vermilion" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased height of upper lip vermilion" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased volume of upper lip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased volume of upper lip vermilion" EXACT [ORCID:0000-0001-5889-4463] synonym: "Plump upper lip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Prominent upper lip" EXACT layperson [] synonym: "Prominent upper lip vermilion" NARROW [ORCID:0000-0001-5889-4463] synonym: "Thick red part of the upper lip" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Thick upper lip" EXACT layperson [HPO:sdoelken] synonym: "Thick vermilion border of upper lip" EXACT [] xref: UMLS:C1846423 is_a: HP:0011339 ! Abnormality of upper lip vermillion is_a: HP:0012471 ! Thick vermilion border [Term] id: HP:0000216 name: Broad secondary alveolar ridge synonym: "Secondary alveolar ridges" EXACT [] xref: UMLS:C1839276 is_a: HP:0000187 ! Broad alveolar ridges [Term] id: HP:0000217 name: Xerostomia alt_id: HP:0002709 alt_id: HP:0100756 def: "Dryness of the mouth due to salivary gland dysfunction." [HPO:probinson] subset: hposlim_core synonym: "Decreased salivary flow" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Dry mouth" EXACT layperson [] synonym: "Dry mouth syndrome" EXACT layperson [] synonym: "Reduced salivation" EXACT layperson [] xref: MSH:D014987 xref: SNOMEDCT_US:300268000 xref: SNOMEDCT_US:56893005 xref: SNOMEDCT_US:87715008 xref: UMLS:C0043352 is_a: HP:0100755 ! Abnormality of salivation [Term] id: HP:0000218 name: High palate alt_id: HP:0000156 alt_id: HP:0009080 alt_id: HP:0009082 alt_id: HP:0009097 def: "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428] comment: The measuring device for this assessment is described in (Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers). A high palate is often associated with a narrow palate. However, a narrow palate can easily give a false appearance of a high palate. Height and width of the palate should be assessed and coded separately. We do not recommend the subjective determination because this term can be overused and\napplied inaccurately. synonym: "Elevated palate" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "High palate" EXACT layperson [] synonym: "High, arched palate" EXACT [] synonym: "High-arched palate" EXACT [] synonym: "Increased palatal height" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:27272007 xref: UMLS:C0240635 is_a: HP:0000174 ! Abnormal palate morphology [Term] id: HP:0000219 name: Thin upper lip vermilion alt_id: HP:0200062 alt_id: HP:0200086 def: "Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective)." [pmid:19125428] comment: Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or use the Likert scale for Caucasians and African Americans [Astley and Clarren, 2000]. The height of the vermilion of the upper lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thinness of the upper lip vermilion is sensitive to facial expression. On profile view, a thin vermilion is less convex than usual. A thin upper lip vermilion may be associated with a smooth philtrum and an absence of the Cupid's bow, but these should be assessed separately. subset: hposlim_core synonym: "Decreased height of upper lip vermilion" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased volume of upper lip" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased volume of upper lip vermilion" EXACT [ORCID:0000-0001-5889-4463] synonym: "Thin red part of the upper lip" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Thin upper lip" EXACT layperson [HPO:skoehler] synonym: "Thin upper lips" RELATED [HPO:skoehler] synonym: "Thin vermilion border of upper lip" EXACT [] xref: UMLS:C1865017 is_a: HP:0000233 ! Thin vermilion border is_a: HP:0011339 ! Abnormality of upper lip vermillion [Term] id: HP:0000220 name: Velopharyngeal insufficiency def: "Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech." [DDD:jhurst] synonym: "Velopharyngeal dysfunction" BROAD [ORCID:0000-0001-5889-4463] synonym: "Velopharyngeal incompetence" EXACT layperson [] xref: MSH:D014681 xref: SNOMEDCT_US:229727006 xref: SNOMEDCT_US:232416001 xref: SNOMEDCT_US:278714002 xref: UMLS:C0042454 xref: UMLS:C4280669 is_a: HP:0100736 ! Abnormal soft palate morphology [Term] id: HP:0000221 name: Furrowed tongue def: "Accentuation of the grooves on the dorsal surface of the tongue." [pmid:19125428] comment: Usually there is a midline groove of the tongue with smaller radiating grooves. The deep furrows may extend to the lateral borders. They may follow a regular geometric pattern or be irregular. A furrowed tongue occurs in 10-25% of individuals but is rare in children. subset: hposlim_core synonym: "Fissured tongue" EXACT [HPO:skoehler] synonym: "Grooved tongue" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Lingual furrow" EXACT [ORCID:0000-0001-5889-4463] synonym: "Lingue plicata" EXACT [HPO:skoehler] synonym: "Plicated tongue" EXACT [HPO:skoehler] synonym: "Prominent tongue grooves" EXACT [] synonym: "Scrotal tongue" EXACT [] xref: MSH:D014063 xref: SNOMEDCT_US:52368004 xref: UMLS:C0040412 is_a: HP:0030809 ! Abnormal tongue morphology [Term] id: HP:0000222 name: Gingival hyperkeratosis alt_id: HP:0007539 def: "Hyperkeratosis of the gingiva." [HPO:ibailleulforestier] comment: The condition results in the teeth being partially or totally engulfed by keratinized gingiva, causing aesthetic and functional problems. synonym: "Hyperkeratosis, gingival" EXACT [] xref: UMLS:C1857013 is_a: HP:0000168 ! Abnormality of the gingiva is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0000223 name: Abnormality of taste sensation synonym: "Abnormality of taste sensation" EXACT layperson [] xref: UMLS:C4025879 is_a: HP:0012638 ! Abnormality of nervous system physiology is_a: HP:0030810 ! Abnormal tongue physiology [Term] id: HP:0000224 name: Decreased taste sensation synonym: "Decreased taste" EXACT layperson [] synonym: "Decreased taste sensation" EXACT layperson [] synonym: "Lost taste" EXACT layperson [] xref: MSH:D000370 xref: SNOMEDCT_US:697990000 xref: UMLS:C0151934 is_a: HP:0000223 ! Abnormality of taste sensation [Term] id: HP:0000225 name: Gingival bleeding alt_id: HP:0000167 def: "Hemorrhage affecting the gingiva." [HPO:ibailleulforestier] synonym: "Bleeding gums" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Gingival hemorrhage" EXACT [ORCID:0000-0001-5889-4463] synonym: "Gingivorrhagia" EXACT [] xref: MSH:D005884 xref: SNOMEDCT_US:86276007 xref: UMLS:C0017565 is_a: HP:0000168 ! Abnormality of the gingiva is_a: HP:0001892 ! Abnormal bleeding [Term] id: HP:0000227 name: Tongue telangiectasia def: "Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue." [HPO:probinson] synonym: "Angioectasias of the tongue" RELATED [ORCID:0000-0001-5889-4463] synonym: "Lingual angioectasias" RELATED [ORCID:0000-0001-5889-4463] synonym: "Lingual telangiectasia" EXACT [ORCID:0000-0001-5889-4463] synonym: "Spider veins of the tongue" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025878 xref: UMLS:C4280668 is_a: HP:0000228 ! Oral cavity telangiectasia is_a: HP:0030809 ! Abnormal tongue morphology [Term] id: HP:0000228 name: Oral cavity telangiectasia def: "Presence of telangiectases in the oral cavity." [HPO:probinson] synonym: "Angioectasias of the mouth" RELATED [ORCID:0000-0001-5889-4463] synonym: "Angioectasias of the oral cavity" RELATED [ORCID:0000-0001-5889-4463] synonym: "Oral cavity teleangiectasia" EXACT [] synonym: "Spider veins of the mouth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Spider veins of the oral cavity" RELATED [ORCID:0000-0001-5889-4463] xref: UMLS:C4025877 xref: UMLS:C4280667 is_a: HP:0011830 ! Abnormal oral mucosa morphology is_a: HP:0100579 ! Mucosal telangiectasiae [Term] id: HP:0000230 name: Gingivitis def: "Inflammation of the gingiva." [HPO:probinson] subset: hposlim_core synonym: "Gingival inflammation" EXACT [ORCID:0000-0001-5889-4463] synonym: "Inflamed gums" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Red and swollen gums" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D005891 xref: SNOMEDCT_US:66383009 xref: UMLS:C0017574 is_a: HP:0000168 ! Abnormality of the gingiva [Term] id: HP:0000232 name: Everted lower lip vermilion alt_id: HP:0000184 alt_id: HP:0002264 alt_id: HP:0002712 alt_id: HP:0004665 alt_id: HP:0009086 alt_id: HP:0009093 def: "An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view." [pmid:19125428] comment: In frontal view, with the face relaxed, the apparent height of the lower lip vermilion is excessive and the lower incisors may be visible. On profile view, the vermilion is more convex than usual. An everted lower lip may be viewed as pouting, but this designation is a functional term. subset: hposlim_core synonym: "Drooping lower lip" EXACT layperson [] synonym: "Eclabium of lower lip" EXACT [ORCID:0000-0001-5889-4463] synonym: "Everted lower lip" EXACT [] synonym: "Everted prominent lower lip" EXACT [] synonym: "Outward turned lower lip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Protruding lower lip" RELATED layperson [] xref: UMLS:C1853246 xref: UMLS:C1866234 is_a: HP:0000178 ! Abnormality of lower lip is_a: HP:0012472 ! Eclabion [Term] id: HP:0000233 name: Thin vermilion border alt_id: HP:0000213 def: "Reduced width of the skin of vermilion border region of upper lip." [HPO:probinson] comment: The vermilion is the red part of the lips, and the vermilion border is the rim of paler skin that demarcates the vermilion from the rest of the skin of the face. synonym: "Decreased volume of lip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased volume of lip vermillion" EXACT [ORCID:0000-0001-5889-4463] synonym: "Thin lips" EXACT layperson [] synonym: "Thin vermilion borders" RELATED [HPO:skoehler] synonym: "Thin vermillion" EXACT [] xref: SNOMEDCT_US:301348000 xref: UMLS:C0578038 is_a: HP:0000159 ! Abnormal lip morphology [Term] id: HP:0000234 name: Abnormality of the head def: "An abnormality of the head." [HPO:probinson] synonym: "Abnormal head" EXACT layperson [HPO:skoehler] synonym: "Abnormality of the head" EXACT layperson [] synonym: "Head abnormality" EXACT layperson [] xref: UMLS:C4021812 is_a: HP:0000152 ! Abnormality of head or neck [Term] id: HP:0000235 name: Abnormality of the fontanelles or cranial sutures def: "Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments )." [HPO:probinson, pmid:12825844] comment: Fontanels are the fibrous, membrane-covered gaps created when more than two cranial bones are juxtaposed, as opposed to sutures, which are narrow seams of fibrous connective tissue that separate the flat bones of the skull. At birth, an infant has six fontanels (the anterior and posterior, two mastoid, and two sphenoid). The anterior fontanel is the largest and most important for clinical evaluation. The average size of the anterior fontanel is 2.1 cm, and the median time of closure is 13.8 months. xref: UMLS:C4025876 is_a: HP:0002683 ! Abnormality of the calvaria [Term] id: HP:0000236 name: Abnormality of the anterior fontanelle def: "An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures." [HPO:curators] synonym: "Abnormality of the forehead soft spot" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025875 is_a: HP:0011328 ! Abnormality of fontanelles [Term] id: HP:0000237 name: Small anterior fontanelle def: "Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms." [HPO:probinson] synonym: "Small anterior fontanel" EXACT [] synonym: "Small forehead fontanel" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1859455 is_a: HP:0000236 ! Abnormality of the anterior fontanelle [Term] id: HP:0000238 name: Hydrocephalus alt_id: HP:0007189 alt_id: HP:0008503 def: "Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation." [HPO:probinson, pmid:18211712, pmid:19410151] comment: Hydrocephalus results from an imbalance between the rate of production of cerebrospinal fluid (CSF), mainly in the choroid plexus, and its reabsorption in the subarchnoid space over brain and spinal cord. synonym: "Hydrocephaly" EXACT [] synonym: "Nonsyndromal hydrocephalus" EXACT [] synonym: "Too much cerebrospinal fluid in the brain" EXACT layperson [orcid.org/0000-0002-6548-5200] xref: MSH:D006849 xref: SNOMEDCT_US:230745008 xref: UMLS:C0020255 is_a: HP:0002118 ! Abnormality of the cerebral ventricles is_a: HP:0002921 ! Abnormality of the cerebrospinal fluid [Term] id: HP:0000239 name: Large fontanelles alt_id: HP:0004473 def: "In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms." [HPO:probinson] comment: There are six membrane-covered openings between the cranial sutures in the incompletely ossified skull of the fetus or newborn infant that normally close sometime after birth (anterior fontanel, cranial fontanel, mastoid fontanel, posterior fontanel, sphenoidal fontanel). synonym: "Enlarged fontanelles" EXACT [] synonym: "Large bregma sutures" NARROW [ORCID:0000-0001-5889-4463] synonym: "Large fontanel" EXACT [] synonym: "Large fontanelle" EXACT [] synonym: "Large fontanels" EXACT [] synonym: "Large, late-closing fontanelle" NARROW [ORCID:0000-0001-5889-4463] synonym: "Persistent wide fontanel" EXACT [] synonym: "Wide bregma sutures" NARROW [ORCID:0000-0001-5889-4463] synonym: "Wide fontanelles" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:276709006 xref: UMLS:C0456132 xref: UMLS:C4072820 xref: UMLS:C4072821 xref: UMLS:C4072822 is_a: HP:0011328 ! Abnormality of fontanelles [Term] id: HP:0000240 name: Abnormality of skull size def: "Any abnormality of the size of the skull." [HPO:curators] synonym: "Abnormality of cranium size" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of head size" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of skull size" EXACT layperson [] xref: UMLS:C4025874 is_a: HP:0000929 ! Abnormal skull morphology [Term] id: HP:0000242 name: Parietal bossing alt_id: HP:0004641 def: "Parietal bossing is a marked prominence in the parietal region." [HPO:probinson] synonym: "Biparietal bossing" EXACT [] synonym: "Bossing of parietal bone" EXACT [] xref: UMLS:C1857126 is_a: HP:0002696 ! Abnormal parietal bone morphology [Term] id: HP:0000243 name: Trigonocephaly def: "Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput." [pmid:19125436] comment: This shape should be assessed from above, with the examiner looking down on the head of the patient. Trigonocephaly can be caused by premature fusion of the metopic suture. subset: hposlim_core synonym: "Triangular cranium shape" EXACT [ORCID:0000-0001-5889-4463] synonym: "Triangular head shape" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Triangular skull shape" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Wedge shaped cranium" EXACT [ORCID:0000-0001-5889-4463] synonym: "Wedge shaped head" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Wedge shaped skull" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D003398 xref: SNOMEDCT_US:28740008 xref: UMLS:C0265535 xref: UMLS:C4280665 xref: UMLS:C4280666 is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0000244 name: Brachyturricephaly def: "Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region." [PMID:8460563] synonym: "Brachy-turricephaly" EXACT [PMID:8460563] synonym: "High, prominent forehead" EXACT layperson [https://orcid.org/0000-0002-9353-5498] synonym: "Turribrachycephaly" EXACT [] xref: UMLS:C1857484 is_a: HP:0000248 ! Brachycephaly is_a: HP:0000262 ! Turricephaly [Term] id: HP:0000245 name: Abnormality of the paranasal sinuses def: "Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses." [HPO:curators] synonym: "Abnormality of the sinuses" BROAD layperson [] synonym: "Abnormality of the sinuses of the head" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025873 is_a: HP:0011821 ! Abnormality of facial skeleton [Term] id: HP:0000246 name: Sinusitis def: "Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction." [HPO:probinson] subset: hposlim_core synonym: "Sinus disease" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Sinus infection" BROAD layperson [] synonym: "Sinus inflammation" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D010254 xref: MSH:D012852 xref: SNOMEDCT_US:36971009 xref: SNOMEDCT_US:7393007 xref: UMLS:C0030469 xref: UMLS:C0037199 is_a: HP:0000245 ! Abnormality of the paranasal sinuses is_a: HP:0012649 ! Increased inflammatory response [Term] id: HP:0000248 name: Brachycephaly alt_id: HP:0002258 alt_id: HP:0004479 alt_id: HP:0008512 def: "An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width." [HPO:probinson, pmid:19125436] comment: Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms also have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Brachycephaly is distinct from Flat occiput, but both can be present in the same individual and should be coded separately. subset: hposlim_core synonym: "Broad cranium shape" BROAD [ORCID:0000-0001-5889-4463] synonym: "Broad head shape" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Broad skull shape" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Short and broad skull" EXACT layperson [orcid.org/0000-0002-6548-5200] synonym: "Wide cranium shape" BROAD [ORCID:0000-0001-5889-4463] synonym: "Wide head shape" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Wide skull shape" BROAD layperson [ORCID:0000-0001-5889-4463] xref: MSH:D003398 xref: SNOMEDCT_US:13649004 xref: UMLS:C0221356 xref: UMLS:C4072823 xref: UMLS:C4072824 is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0000250 name: Dense calvaria def: "An abnormal increase of density of the bones making up the calvaria." [HPO:curators] synonym: "Dense skull cap" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1854834 is_a: HP:0002683 ! Abnormality of the calvaria is_a: HP:0004330 ! Increased skull ossification [Term] id: HP:0000252 name: Microcephaly alt_id: HP:0001366 alt_id: HP:0005485 alt_id: HP:0005489 alt_id: HP:0005497 def: "Head circumference below 2 standard deviations below the mean for age and gender." [pmid:19125436, PMID:25465325, pmid:9683597] comment: Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far below the normal standard the head circumference is if an accurate assessment of this can be made. Microcephaly is an absolute term. The term relative microcephaly can be used when the head size centile is less than the centile for height, for example, head size at the 3rd centile with height at the 75% for age and sex. On prenatal ultrasound, microcephaly is diagnosed if the head circumference or the biparietal diameter is more than three standard deviations below the mean. subset: hposlim_core synonym: "Abnormally small cranium" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormally small head" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormally small skull" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased circumference of cranium" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased size of cranium" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased size of head" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased size of skull" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Reduced head circumference" EXACT layperson [] synonym: "small calvarium" EXACT [ORCID:0000-0001-5889-4463] synonym: "small cranium" EXACT [ORCID:0000-0001-5889-4463] synonym: "Small head" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Small head circumference" EXACT layperson [] synonym: "Small skull" BROAD layperson [ORCID:0000-0001-5889-4463] xref: Fyler:4310 xref: SNOMEDCT_US:271611007 xref: UMLS:C0424688 is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum is_a: HP:0040195 ! Decreased head circumference [Term] id: HP:0000253 name: Progressive microcephaly def: "Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms." [HPO:probinson] synonym: "Microcephaly, postnatal, progressive" EXACT [] synonym: "Microcephaly, progressive" EXACT [HPO:skoehler] synonym: "Progressively abnormally small cranium" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Progressively abnormally small skull" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1850456 is_a: HP:0005484 ! Postnatal microcephaly [Term] id: HP:0000255 name: Acute sinusitis def: "An acute form of sinusitis." [HPO:probinson] xref: SNOMEDCT_US:15805002 xref: UMLS:C0149512 is_a: HP:0000246 ! Sinusitis [Term] id: HP:0000256 name: Macrocephaly alt_id: HP:0005491 alt_id: HP:0005496 alt_id: HP:0200135 def: "Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium." [pmid:19125436] comment: Macrocephaly can be due to hydrocephalus (increased CFSF), megalencephaly (increased brain volume) or thickening of the skull. Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far above the normal standard the head circumference is if an accurate assessment of this can be made. Macrocephaly is an absolute term. The term relative macrocephaly can be used when the head size centile exceeds the centile for height, for example, head size at the 75th centile with height at the 5th centile for age and sex. subset: hposlim_core synonym: "Big calvaria" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Big cranium" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Big head" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Big skull" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Increased size of cranium" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased size of head" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Increased size of skull" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Large calvaria" BROAD [ORCID:0000-0001-5889-4463] synonym: "Large cranium" BROAD [ORCID:0000-0001-5889-4463] synonym: "Large head" EXACT layperson [] synonym: "Large head circumference" EXACT layperson [] synonym: "Large skull" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Macrocrania" EXACT [] synonym: "Megacephaly" EXACT [ORCID:0000-0001-5208-3432] xref: Fyler:4335 xref: UMLS:C4083076 xref: UMLS:C4255213 xref: UMLS:C4280663 xref: UMLS:C4280664 is_a: HP:0040194 ! Increased head circumference [Term] id: HP:0000260 name: Wide anterior fontanel def: "Enlargement of the anterior fontanelle with respect to age-dependent norms." [HPO:curators] synonym: "Large anterior fontanel" EXACT [] synonym: "Large anterior fontanelle" EXACT [] synonym: "Large anterior fontanels" RELATED [HPO:skoehler] synonym: "Large open anterior fontanel" EXACT [] synonym: "Large open anterior fontanelle" EXACT [] synonym: "Wide anterior fontanelle" EXACT [] synonym: "Wide open anterior fontanelle" EXACT [] synonym: "Wider-than-typical soft spot of skull" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1866134 is_a: HP:0000236 ! Abnormality of the anterior fontanelle is_a: HP:0000239 ! Large fontanelles [Term] id: HP:0000262 name: Turricephaly alt_id: HP:0001356 def: "Tall head relative to width and length." [pmid:19125436] comment: Turricephaly is derived from the Latin word turris, meaning tall, and refers to a round, tall (tower-like) skull. This feature may have previously been considered to overlap with or include a tall forehead. Turricephaly is present when the head appears tall (subjective) and head length and width are reduced compared to normal age-related standards (objective). Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. The term acrocephaly (or oxycephaly) is used when there is turricephaly and the top of the skull assumes a cone shape. subset: hposlim_core synonym: "Tall shaped cranium" EXACT [ORCID:0000-0001-5889-4463] synonym: "Tall shaped head" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Tall shaped skull" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Tower cranium shape" EXACT [ORCID:0000-0001-5889-4463] synonym: "Tower skull shape" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D003398 xref: SNOMEDCT_US:48069004 xref: UMLS:C0030044 is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0000263 name: Oxycephaly def: "Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull." [HPO:curators] synonym: "Acrocephaly" RELATED [] xref: MSH:D003398 xref: SNOMEDCT_US:48069004 xref: UMLS:C0030044 is_a: HP:0000262 ! Turricephaly [Term] id: HP:0000264 name: Abnormality of the mastoid def: "An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone." [HPO:pnrobinson] subset: hposlim_core synonym: "Abnormality of mastoid process of temporal bone" EXACT [] xref: UMLS:C4025872 is_a: HP:0000929 ! Abnormal skull morphology [Term] id: HP:0000265 name: Mastoiditis xref: MSH:D008417 xref: SNOMEDCT_US:52404001 xref: UMLS:C0024904 is_a: HP:0000264 ! Abnormality of the mastoid [Term] id: HP:0000267 name: Cranial asymmetry def: "Asymmetry of the bones of the skull." [HPO:curators] synonym: "Abnormality of cranial vault shape" RELATED [ORCID:0000-0001-5889-4463] synonym: "Abnormality of cranium shape" RELATED [ORCID:0000-0001-5889-4463] synonym: "Abnormality of head shape" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Asymmetry of cranium" EXACT [ORCID:0000-0001-5889-4463] synonym: "Asymmetry of head" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Cranial vault asymmetry" EXACT [ORCID:0000-0001-5889-4463] synonym: "Malformation of cranial vault shape" RELATED [ORCID:0000-0001-5889-4463] synonym: "Malformation of cranium shape" RELATED [ORCID:0000-0001-5889-4463] synonym: "Malformation of head shape" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Uneven head shape" BROAD layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1860245 xref: UMLS:C4280258 xref: UMLS:C4280657 xref: UMLS:C4280658 xref: UMLS:C4280659 xref: UMLS:C4280660 xref: UMLS:C4280661 xref: UMLS:C4280662 is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0000268 name: Dolichocephaly alt_id: HP:0000258 alt_id: HP:0005440 def: "An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture." [HPO:probinson, pmid:19125436] comment: Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Dolichocephaly is distinct from Prominent occiput, but both can be present in the same individual and should be coded separately. Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). subset: hposlim_core synonym: "Large dolichocephalic skull" NARROW [] synonym: "Long, narrow head" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Narrow cranium shape" BROAD [ORCID:0000-0001-5889-4463] synonym: "Narrow head shape" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Narrow skull shape" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Tall and narrow skull" EXACT layperson [orcid.org/0000-0002-6548-5200] synonym: "Turridolichocephaly" BROAD [] xref: SNOMEDCT_US:72239002 xref: UMLS:C0221358 xref: UMLS:C4280653 xref: UMLS:C4280654 xref: UMLS:C4280655 xref: UMLS:C4280656 is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0000269 name: Prominent occiput alt_id: HP:0004489 def: "Increased convexity of the occiput (posterior part of the skull)." [pmid:19125436] comment: Increased convexity of the occiput gives an appearance of prominence. There are no objective measures for convexity of the occiput, and evaluation depends heavily on the experience of the observer. This finding may or may not be accompanied by Dolichocephaly, but this should be coded separately. subset: hposlim_core synonym: "Prominent back of the head" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Prominent back of the skull" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Prominent posterior cranium" EXACT [ORCID:0000-0001-5889-4463] synonym: "Prominent posterior head" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Prominent posterior skull" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Protruding back of the head" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Protruding occiput" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1853737 xref: UMLS:C4280652 is_a: HP:0011217 ! Abnormal shape of the occiput [Term] id: HP:0000270 name: Delayed cranial suture closure alt_id: HP:0002704 alt_id: HP:0003794 def: "Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age." [HPO:probinson] synonym: "Broad late closing cranial sutures" EXACT [] synonym: "Delayed closure of fontanel" EXACT [] synonym: "Delayed closure of fontanelles" EXACT [] synonym: "Delayed closure of fontanels" EXACT [HPO:skoehler] synonym: "Delayed closure of the fontanelles" EXACT [] synonym: "Delayed cranial suture closure" EXACT layperson [] synonym: "Delayed fontanel closure" EXACT [] synonym: "Delayed fontanelle closure" EXACT [] synonym: "Late closing fontanelles" EXACT [] synonym: "Late closure of fontanelle" EXACT [] synonym: "Late-closing fontanelle" EXACT [] synonym: "Open sutures" EXACT [] xref: SNOMEDCT_US:82779003 xref: UMLS:C0277828 is_a: HP:0011329 ! Abnormality of cranial sutures [Term] id: HP:0000271 name: Abnormality of the face def: "An abnormality of the face." [HPO:probinson] subset: hposlim_core synonym: "Abnormal face" EXACT layperson [HPO:skoehler] synonym: "Abnormality of the countenance" BROAD [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the face" EXACT layperson [] synonym: "Abnormality of the physiognomy" BROAD [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the visage" BROAD [ORCID:0000-0001-5889-4463] synonym: "Anomaly of face" RELATED [ORCID:0000-0001-5889-4463] synonym: "Anomaly of the face" RELATED [ORCID:0000-0001-5889-4463] synonym: "Disorder of face" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Disorder of the face" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Facial abnormality" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Facial anomaly" RELATED [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:118930001 xref: SNOMEDCT_US:32003007 xref: SNOMEDCT_US:398206004 xref: SNOMEDCT_US:398302004 xref: UMLS:C0266617 xref: UMLS:C1290857 xref: UMLS:C4025871 is_a: HP:0000234 ! Abnormality of the head [Term] id: HP:0000272 name: Malar flattening alt_id: HP:0000312 alt_id: HP:0000332 alt_id: HP:0004642 alt_id: HP:0004658 alt_id: HP:0004671 alt_id: HP:0005319 alt_id: HP:0005443 alt_id: HP:0005455 alt_id: HP:0100846 def: "Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation." [HPO:probinson, ORCID:0000-0001-5889-4463, pmid:19125436] comment: The malar process is the most medial and superior portion of the bony midface, articulating with the maxilla and temporal and sphenoid bones, contiguous with the lateral boundary of the nasal bridge. The term malar hypoplasia is no longer preferred because surface examination cannot distinguish hypoplasia from hypotrophy. {xref="ORCID:0000-0001-5889-4463"} subset: hposlim_core synonym: "Decreased size of malar bone" EXACT [ORCID:0000-0001-5889-4463] synonym: "Depressed malar region" EXACT [] synonym: "Flat cheekbone" EXACT [ORCID:0000-0002-9353-5498] synonym: "Hypotrophic malar bone" RELATED [ORCID:0000-0001-5889-4463] synonym: "Malar hypoplasia" EXACT [] synonym: "Underdevelopment of malar bone" EXACT [ORCID:0000-0001-5889-4463] synonym: "Zygomatic flattening" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1858085 xref: UMLS:C4280651 is_a: HP:0012369 ! Abnormality of malar bones [Term] id: HP:0000273 name: Facial grimacing synonym: "Facial grimacing" EXACT layperson [] xref: SNOMEDCT_US:37126005 xref: UMLS:C0234853 is_a: HP:0005324 ! Disturbance of facial expression [Term] id: HP:0000274 name: Small face def: "A face that is short (HP:0011219) and narrow (HP:0000275)." [HP:probinson] comment: This term represents a combination of two terms, short face and narrow face. synonym: "Facial hypoplasia" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypoplasia of face" EXACT [ORCID:0000-0001-5889-4463] synonym: "Microface" EXACT [ORCID:0000-0001-5889-4463] synonym: "Microfacies" EXACT [ORCID:0000-0001-5889-4463] synonym: "Short and narrow face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Small face" EXACT layperson [] synonym: "Small facies" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1855538 is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000275 name: Narrow face alt_id: HP:0000318 def: "Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective)." [pmid:19125436] comment: Objective measurement of the upper facial width is made with spreading calipers. The tips of the calipers are passed over the zygomatic arches until the maximum width is determined. Objective measurement of the lower faces is made with spreading calipers, with the tips firmly pressed against the inferomedial surface of the angle of the mandible. subset: hposlim_core synonym: "Decreased breadth of face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased horizontal dimension of face" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased transverse dimension of face" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased width of face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Horizontal deficiency of face" EXACT [ORCID:0000-0001-5889-4463] synonym: "Horizontal hypoplasia of face" EXACT [ORCID:0000-0001-5889-4463] synonym: "Horizontal insufficiency of face" EXACT [ORCID:0000-0001-5889-4463] synonym: "Narrow face" EXACT layperson [] synonym: "Narrow facies" EXACT [] synonym: "Thin face" RELATED layperson [] synonym: "Thin facies" EXACT [ORCID:0000-0001-5889-4463] synonym: "Transverse deficiency of face" EXACT [ORCID:0000-0001-5889-4463] synonym: "Transverse hypoplasia of face" EXACT [ORCID:0000-0001-5889-4463] synonym: "Transverse insufficiency of face" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1837463 xref: UMLS:C1849121 is_a: HP:0000274 ! Small face [Term] id: HP:0000276 name: Long face alt_id: HP:0000334 def: "Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective)." [pmid:19125436] comment: Objective measurement of the face height is made with sliding calipers from the nasion, just above the depth of the nasal root, to the gnathion, the inferior border of the mandible, both in the midline. Note that long face is distinct from narrow face. subset: hposlim_core synonym: "Elongation of face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased height of face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased length of face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased vertical dimension of face" EXACT [ORCID:0000-0001-5889-4463] synonym: "Long face" EXACT layperson [] synonym: "Long facies" EXACT [ORCID:0000-0001-5889-4463] synonym: "Vertical elongation of face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Vertical enlargement of face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Vertical excess of face" EXACT [ORCID:0000-0001-5889-4463] synonym: "Vertical Facial Excess" EXACT [ORCID:0000-0001-5889-4463] synonym: "Vertical hyperplasia of face" EXACT [ORCID:0000-0001-5889-4463] synonym: "Vertical overgrowth of face" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1836047 is_a: HP:0100729 ! Large face [Term] id: HP:0000277 name: Abnormality of the mandible alt_id: HP:0000209 def: "Any abnormality of the mandible, the bone of the lower jaw." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the lower jaw bone" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the mandible" EXACT layperson [] synonym: "Anomaly of the mandible" NARROW [ORCID:0000-0001-5889-4463] synonym: "Deformity of the lower jaw bone" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Deformity of the mandible" NARROW [ORCID:0000-0001-5889-4463] synonym: "Malformation of the lower jaw bone" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of the mandible" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4025870 is_a: HP:0030791 ! Abnormal jaw morphology [Term] id: HP:0000278 name: Retrognathia alt_id: HP:0002053 alt_id: HP:0002954 def: "An abnormality in which the mandible is mislocalised posteriorly." [HPO:probinson] subset: hposlim_core synonym: "Receding chin" EXACT layperson [] synonym: "Receding lower jaw" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Receding mandible" EXACT [] synonym: "Retrogenia" NARROW [ORCID:0000-0001-5889-4463] synonym: "Retrognathia of lower jaw" EXACT [ORCID:0000-0001-5889-4463] synonym: "Weak chin" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Weak jaw" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D063173 xref: UMLS:C3494422 is_a: HP:0000277 ! Abnormality of the mandible [Term] id: HP:0000280 name: Coarse facial features alt_id: HP:0000281 alt_id: HP:0004640 def: "Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues." [pmid:19125436] subset: hposlim_core synonym: "Coarse face" EXACT [] synonym: "Coarse facial appearance" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Coarse facial features" EXACT layperson [] synonym: "Coarse facies" EXACT [] synonym: "Rounded and heavy facial features" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Thickened facial skin with coarse facial features" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1845847 xref: UMLS:C4072825 is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000282 name: Facial edema synonym: "Facial puffiness" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Facial swelling" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:445088006 xref: UMLS:C0542571 is_a: HP:0000969 ! Edema is_a: HP:0011799 ! Abnormality of facial soft tissue [Term] id: HP:0000283 name: Broad face def: "Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective)." [pmid:19125436] comment: Note that broad face is distinct from round face. subset: hposlim_core synonym: "Broad face" EXACT layperson [] synonym: "Broad facies" EXACT [ORCID:0000-0001-5889-4463] synonym: "Horizontal excess of face" EXACT [ORCID:0000-0001-5889-4463] synonym: "Horizontal hyperplasia of face" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased breadth of face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased horizontal dimension of face" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased transverse dimension of face" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased width of face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Transverse excess of face" EXACT [ORCID:0000-0001-5889-4463] synonym: "Transverse hyperplasia of face" EXACT [ORCID:0000-0001-5889-4463] synonym: "Wide face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Wide facies" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1859680 is_a: HP:0100729 ! Large face [Term] id: HP:0000284 name: obsolete Abnormality of the ocular region is_obsolete: true replaced_by: HP:0000315 [Term] id: HP:0000286 name: Epicanthus alt_id: HP:0000624 alt_id: HP:0007930 def: "A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus." [HPO:probinson] comment: In extreme cases, the skin fold can start as high as the eyebrow; this is called epicanthus superciliaris. subset: hposlim_core synonym: "Epicanthal fold" EXACT [] synonym: "Epicanthal folds" EXACT [] synonym: "Epicanthic folds" EXACT [] synonym: "Eye folds" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Palpebronasal fold" EXACT [ORCID:0000-0001-5889-4463] synonym: "Plica palpebronasalis" EXACT [ORCID:0000-0001-5889-4463] synonym: "Prominent eye folds" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C0678230 is_a: HP:0000492 ! Abnormal eyelid morphology [Term] id: HP:0000287 name: Increased facial adipose tissue def: "An increased amount of subcutaneous fat tissue in the face." [HPO:probinson] synonym: "Facial fat hyperplasia" NARROW [ORCID:0000-0001-5889-4463] synonym: "Facial fat hypertrophy" NARROW [ORCID:0000-0001-5889-4463] synonym: "Hyperplasia of facial adipose tissue" NARROW [ORCID:0000-0001-5889-4463] synonym: "Hypertrophy of facial adipose tissue" NARROW [ORCID:0000-0001-5889-4463] synonym: "Increased amount of facial adipose tissue" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased amount of facial fat" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased volume of facial adipose tissue" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025868 xref: UMLS:C4280649 xref: UMLS:C4280650 is_a: HP:0000291 ! Abnormality of facial adipose tissue [Term] id: HP:0000288 name: Abnormality of the philtrum alt_id: HP:0011216 def: "An abnormality of the philtrum." [HPO:probinson] comment: The paralabial region is the region surrounding the lips and includes the philtrum. subset: hposlim_core synonym: "Abnormal philtrum" EXACT [] synonym: "Abnormality of the infranasal depression" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the paralabial region" EXACT [] xref: UMLS:C1857045 is_a: HP:0000177 ! Abnormality of upper lip [Term] id: HP:0000289 name: Broad philtrum def: "Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum." [pmid:19152422] comment: The mean width of the philtrum was found to be 7 mm in infants by Franz and Sokol [1971] and 9.7 mm in adults by Ward and Jamison [1991]. Measuring width of the philtrum is even more inaccurate than measuring length (vide supra). A broad philtrum may be associated with reduced ridge prominence or a shallow groove, a Smooth philtrum, which should be assessed and coded separately. It may be found with a broad nasal septum. subset: hposlim_core synonym: "Increased breadth of philtrum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased horizontal dimension of philtrum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased transverse dimension of philtrum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased width of philtrum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Wide philtrum" EXACT [] xref: UMLS:C1854111 is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0000290 name: Abnormality of the forehead def: "An anomaly of the forehead." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the forehead" EXACT layperson [] synonym: "Abnormality of the frontal region of the face" EXACT [ORCID:0000-0001-5889-4463] synonym: "Anomaly of the forehead" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Deformity of the forehead" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of the forehead" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025867 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000291 name: Abnormality of facial adipose tissue synonym: "Abnormality of facial fat" EXACT layperson [] synonym: "Deformity of facial adipose tissue" NARROW [ORCID:0000-0001-5889-4463] synonym: "Malformation of facial adipose tissue" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4025866 is_a: HP:0009124 ! Abnormal adipose tissue morphology is_a: HP:0011799 ! Abnormality of facial soft tissue [Term] id: HP:0000292 name: Loss of facial adipose tissue def: "Loss of normal subcutaneous fat tissue in the face." [HPO:curators] synonym: "Decreased amount of facial adipose tissue" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased amount of facial fat" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased volume of facial adipose tissue" EXACT [ORCID:0000-0001-5889-4463] synonym: "Loss of facial fat" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Loss of facial subcutaneous adipose tissue" EXACT [] synonym: "Loss of subcutaneous adipose tissue from face" EXACT [] xref: UMLS:C1837767 is_a: HP:0000291 ! Abnormality of facial adipose tissue is_a: HP:0008887 ! Adipose tissue loss [Term] id: HP:0000293 name: Full cheeks alt_id: HP:0002262 alt_id: HP:0004427 def: "Increased prominence or roundness of soft tissues between zygomata and mandible." [DDD:awilkie] subset: hposlim_core synonym: "Apple cheeks" EXACT layperson [] synonym: "Big cheeks" EXACT layperson [] synonym: "Chubby cheeks" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Full cheeks" EXACT layperson [] synonym: "Hyperplasia of cheeks" RELATED [ORCID:0000-0001-5889-4463] synonym: "Hypertrophy of cheeks" RELATED [ORCID:0000-0001-5889-4463] synonym: "Increased size of cheeks" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Large cheeks" EXACT layperson [] synonym: "Puffy cheeks" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1866231 xref: UMLS:C2748653 xref: UMLS:C3806443 xref: UMLS:C4280647 xref: UMLS:C4280648 is_a: HP:0004426 ! Abnormality of the cheek [Term] id: HP:0000294 name: Low anterior hairline def: "Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella." [pmid:19125436] comment: This feature gives the appearance of a short forehead. It is distinct from hirsutism of the forehead. In the latter, orientation of hair growth is lateral and texture and density of hair differs from scalp hair. subset: hposlim_core synonym: "Low frontal hairline" EXACT layperson [] synonym: "Low-set frontal hairline" EXACT layperson [] xref: UMLS:C1842366 is_a: HP:0000599 ! Abnormality of the frontal hairline [Term] id: HP:0000295 name: Doll-like facies def: "A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin." [HPO:probinson] comment: This term represents a bundle of phenotypic features and is kept for historical reasons. It is preferable to annotate the individual clinical findings precisely. synonym: "Doll-like facial appearance" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1856361 is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000297 name: Facial hypotonia def: "Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve)." [HPO:probinson] synonym: "Atony of facial musculature" NARROW [ORCID:0000-0001-5889-4463] synonym: "Decreased facial muscle tone" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Hypotonic facies" EXACT [] synonym: "Low facial muscle tone" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Reduced facial muscle tone" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1845251 xref: UMLS:C4280646 is_a: HP:0000301 ! Abnormality of facial musculature is_a: HP:0001252 ! Muscular hypotonia [Term] id: HP:0000298 name: Mask-like facies def: "A lack of facial expression often with staring eyes and a slightly open mouth." [HPO:probinson] comment: Mask-like facies can be seen in many neurological disorders such as Parkinsonism and myotonic dystrophy. synonym: "Amimia" EXACT [] synonym: "Expressionless face" EXACT layperson [] synonym: "Lack of facial expression" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Mask-like facial appearance" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Masklike facies" EXACT [] xref: SNOMEDCT_US:103606006 xref: UMLS:C0424448 is_a: HP:0004673 ! Decreased facial expression [Term] id: HP:0000300 name: Oval face def: "A face with a rounded and slightly elongated outline." [HPO:probinson] synonym: "Oval face" EXACT layperson [] synonym: "Oval facial shape" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Oval facies" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1849025 is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000301 name: Abnormality of facial musculature def: "An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve)." [HPO:probinson] comment: Facial muscles control facial expression and are innervated by the seventh cranial nerve. Facial muscles around the eye are responsible for eye blink and eyelid closure. synonym: "Abnormality of facial muscles" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Facial muscle issue" EXACT layperson [] xref: UMLS:C4025865 is_a: HP:0003011 ! Abnormality of the musculature is_a: HP:0011799 ! Abnormality of facial soft tissue [Term] id: HP:0000303 name: Mandibular prognathia alt_id: HP:0000251 alt_id: HP:0000279 alt_id: HP:0000328 alt_id: HP:0002051 alt_id: HP:0004648 alt_id: HP:0004656 alt_id: HP:0008514 def: "Abnormal prominence of the chin related to increased length of the mandible." [HPO:probinson] subset: hposlim_core synonym: "Big lower jaw" EXACT layperson [] synonym: "Big mandible" EXACT [] synonym: "Enlarged mandible" EXACT [] synonym: "Enlargement of mandible" EXACT [] synonym: "Hyperplasia of lower jaw" EXACT [] synonym: "Hypertrophy of lower jaw" BROAD [ORCID:0000-0001-5889-4463] synonym: "Hypertrophy of mandible" BROAD [ORCID:0000-0001-5889-4463] synonym: "Increased projection of lower jaw" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased projection of mandible" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased size of lower jaw" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased size of mandible" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Large lower jaw" EXACT layperson [] synonym: "Large mandible" EXACT [] synonym: "Lower jaw excess" EXACT [] synonym: "Lower jaw hyperplasia" EXACT [] synonym: "Macromandible" EXACT [] synonym: "Mandible prognathism" EXACT [] synonym: "Mandibular excess" EXACT [] synonym: "Mandibular hyperplasia" EXACT [] synonym: "Mandibular macrognathia" EXACT [] synonym: "Mandibular prognathism" EXACT [] synonym: "Prognathia" EXACT [] synonym: "Prognathism" EXACT [] synonym: "Prominent chin" EXACT layperson [] synonym: "Prominent jaw" EXACT [] synonym: "Prominent lower jaw" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Prominent mandible" EXACT [ORCID:0000-0001-5889-4463] synonym: "Relative mandibular prognathism" EXACT [] xref: MSH:D008313 xref: SNOMEDCT_US:109504005 xref: SNOMEDCT_US:22810007 xref: UMLS:C0302501 xref: UMLS:C0399526 xref: UMLS:C2227134 xref: UMLS:C4280644 xref: UMLS:C4280645 is_a: HP:0000277 ! Abnormality of the mandible is_a: HP:0000306 ! Abnormality of the chin [Term] id: HP:0000306 name: Abnormality of the chin def: "An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw." [HPO:probinson, pmid:19125436] subset: hposlim_core synonym: "Abnormality of the chin" EXACT layperson [] synonym: "Abnormality of the menton" NARROW [ORCID:0000-0001-5889-4463] synonym: "Anomaly of the chin" NARROW layperson [] synonym: "Deformity of the chin" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of the chin" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025864 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000307 name: Pointed chin alt_id: HP:0005330 def: "A marked tapering of the lower face to the chin." [pmid:19125436] comment: The two rami of the mandible meet at an acute angle. subset: hposlim_core synonym: "Pointed chin" EXACT layperson [] synonym: "Pointed mention region" EXACT [ORCID:0000-0001-5889-4463] synonym: "Pointy chin" EXACT layperson [] synonym: "Small pointed chin" EXACT layperson [] synonym: "Witch's chin" EXACT layperson [] xref: UMLS:C1844505 is_a: HP:0000306 ! Abnormality of the chin [Term] id: HP:0000308 name: Microretrognathia def: "A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly." [HPO:probinson] synonym: "Retromicrognathia" EXACT [] synonym: "Small retruded chin" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1839546 is_a: HP:0000278 ! Retrognathia is_a: HP:0000347 ! Micrognathia [Term] id: HP:0000309 name: Abnormality of the midface def: "An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface." [HPO:probinson, pmid:19125436] synonym: "Abnormality of the midface" EXACT layperson [] synonym: "Anomaly of the midface" EXACT [] synonym: "Deformity of the midface" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of the midface" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021811 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000311 name: Round face alt_id: HP:0000304 alt_id: HP:0004653 def: "The facial appearance is more circular than usual as viewed from the front." [pmid:19125436] subset: hposlim_core synonym: "Circular face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Round face" EXACT layperson [] synonym: "Round facial appearance" EXACT layperson [] synonym: "Round facial shape" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Round facies" EXACT [] synonym: "Round, full face" BROAD [] xref: UMLS:C0239479 xref: UMLS:C1856468 is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000315 name: Abnormality of the orbital region alt_id: HP:0000284 synonym: "Abnormality of the eye region" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the region around the eyes" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Anomaly of the orbital region of the face" NARROW [ORCID:0000-0001-5889-4463] synonym: "Deformity of the orbital region of the face" NARROW [ORCID:0000-0001-5889-4463] synonym: "Malformation of the orbital region of the face" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4025863 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000316 name: Hypertelorism alt_id: HP:0000578 alt_id: HP:0002001 alt_id: HP:0004657 alt_id: HP:0007871 def: "Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes)." [pmid:19125427] subset: hposlim_core synonym: "Excessive orbital separation" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased distance between eye sockets" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased distance between eyes" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased interpupillary distance" EXACT [] synonym: "Ocular hypertelorism" EXACT [] synonym: "Wide-set eyes" EXACT layperson [] synonym: "Widely spaced eyes" EXACT layperson [] synonym: "Widened interpupillary distance" EXACT [] xref: MSH:D006972 xref: SNOMEDCT_US:194021007 xref: SNOMEDCT_US:22006008 xref: UMLS:C0020534 is_a: HP:0100886 ! Abnormality of globe location [Term] id: HP:0000317 name: Facial myokymia alt_id: HP:0004651 def: "Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve)." [HPO:curators] comment: Facial myokymia may be caused by a plaque of multiple sclerosis or have other causes. synonym: "Involuntary facial contraction" EXACT [] synonym: "Involuntary facial quivering" EXACT layperson [] xref: MSH:D005155 xref: SNOMEDCT_US:1070000 xref: UMLS:C0270871 is_a: HP:0000301 ! Abnormality of facial musculature is_a: HP:0002411 ! Myokymia [Term] id: HP:0000319 name: Smooth philtrum alt_id: HP:0000299 alt_id: HP:0000323 alt_id: HP:0004663 def: "Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border." [pmid:19152422] comment: There is a spectrum of this finding from total absence of the philtral ridges to a some prominence of the ridges. The central groove varies from absent to shallow. Normal values for the frequency of smooth philtrum are available. Grading of the smoothness of the philtrum, used in the assessment of Fetal Alcohol Syndrome, has been developed. This finding is greatly influenced by the facial expression, and care should be taken to evaluate the philtrum when the face is in a neutral position. A smooth philtrum can be associated with a Long philtrum. However, the two findings should be coded separately. synonym: "Decreased depth of philtrum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Flat philtrum" EXACT [] synonym: "Indistinct philtrum" EXACT [] synonym: "Philtrum, smooth" EXACT [] synonym: "Shallow philtrum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Simple philtrum" EXACT [] xref: UMLS:C1142533 is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0000320 name: Bird-like facies synonym: "Bird-like facial appearance" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1837758 is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000321 name: Square face def: "Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance." [pmid:19125436] synonym: "Square face" EXACT layperson [] synonym: "Square facial shape" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Square facies" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1832127 is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000322 name: Short philtrum alt_id: HP:0200090 def: "Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border." [pmid:19152422] subset: hposlim_core synonym: "Decreased height of philtrum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased length of philtrum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased vertical dimension of philtrum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Vertical hypoplasia of philtrum" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1861324 is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0000324 name: Facial asymmetry alt_id: HP:0003775 def: "An abnormal difference between the left and right sides of the face." [HPO:probinson] subset: hposlim_core synonym: "Asymmetric facies" EXACT [] synonym: "Asymmetry of face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Asymmetry of right and left side of face" EXACT [] synonym: "Crooked face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Facial asymmetry" EXACT layperson [] synonym: "Unbalanced face" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Unequal sides of face" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Uneven face" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Uneven sides of face" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Unsymmetrical face" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D005146 xref: SNOMEDCT_US:15253005 xref: UMLS:C1306710 is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000325 name: Triangular face alt_id: HP:0004645 alt_id: HP:0004662 alt_id: HP:0004668 def: "Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin." [DDD:jclayton-smith, pmid:19125436] subset: hposlim_core synonym: "Face with broad temples and narrow chin" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Triangular face" EXACT layperson [] synonym: "Triangular facial shape" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Triangular facies" EXACT [] xref: UMLS:C1835884 is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000326 name: Abnormality of the maxilla def: "An abnormality of the Maxilla (upper jaw bone)." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the upper jaw bone" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the upper jaw bones" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Anomaly of the maxilla" NARROW [ORCID:0000-0001-5889-4463] synonym: "Deformity of the maxilla" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Deformity of the upper jaw bones" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of the maxilla" NARROW [ORCID:0000-0001-5889-4463] synonym: "Malformation of the upper jaw bones" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025862 is_a: HP:0030791 ! Abnormal jaw morphology [Term] id: HP:0000327 name: Hypoplasia of the maxilla alt_id: HP:0004644 def: "Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region." [HPO:probinson] subset: hposlim_core synonym: "Decreased projection of maxilla" NARROW [ORCID:0000-0001-5889-4463] synonym: "Decreased projection of upper jaw" NARROW [ORCID:0000-0001-5889-4463] synonym: "Decreased size of maxilla" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased size of upper jaw" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Deficiency of upper jaw bones" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Hypoplasia of upper jaw bones" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypoplastic maxillary bones" EXACT [] synonym: "Hypotrophic maxilla" RELATED [ORCID:0000-0001-5889-4463] synonym: "Hypotrophic upper jaw bones" RELATED [ORCID:0000-0001-5889-4463] synonym: "Maxillary deficiency" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Maxillary hypoplasia" EXACT [ORCID:0000-0001-5889-4463] synonym: "Maxillary micrognathia" EXACT [ORCID:0000-0001-5889-4463] synonym: "Maxillary retrognathia" EXACT [ORCID:0000-0001-5889-4463] synonym: "Maxillary retrusion" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Micromaxilla" EXACT [ORCID:0000-0001-5889-4463] synonym: "Retrognathia of upper jaw" RELATED [ORCID:0000-0001-5889-4463] synonym: "Retrusion of upper jaw bones" RELATED [ORCID:0000-0001-5889-4463] synonym: "Small maxilla" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Small upper jaw" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Small upper jaw bones" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Upper jaw deficiency" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Upper jaw retrusion" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C0240310 xref: UMLS:C4082243 xref: UMLS:C4280640 xref: UMLS:C4280641 xref: UMLS:C4280642 xref: UMLS:C4280643 is_a: HP:0000326 ! Abnormality of the maxilla [Term] id: HP:0000329 name: Facial hemangioma def: "Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face." [HPO:curators] synonym: "Facial hemangiomata" EXACT [] xref: UMLS:C1861443 is_a: HP:0001028 ! Hemangioma is_a: HP:0011799 ! Abnormality of facial soft tissue [Term] id: HP:0000331 name: Short chin def: "Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin." [HPO:probinson, pmid:19125436] comment: The term "micrognathia" should be used when the chin is both short (vertical dimension) and narrow (horizontal dimension). synonym: "Decreased height of chin" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Short chin" EXACT layperson [] synonym: "Short lower third of face" EXACT layperson [] synonym: "Small chin" RELATED layperson [] synonym: "Vertical deficiency of chin" EXACT [ORCID:0000-0001-5889-4463] synonym: "Vertical hypoplasia of chin" EXACT [] xref: SNOMEDCT_US:699439001 xref: UMLS:C1839323 xref: UMLS:C3697248 is_a: HP:0000306 ! Abnormality of the chin [Term] id: HP:0000336 name: Prominent supraorbital ridges def: "Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones." [pmid:19125436] subset: hposlim_core synonym: "Hyperplasia of supraorbital margins" NARROW [ORCID:0000-0001-5889-4463] synonym: "Hyperplasia of supraorbital ridge" NARROW [] synonym: "Hypertrophy of supraorbital margins" NARROW [ORCID:0000-0001-5889-4463] synonym: "Hypertrophy of supraorbital ridge" NARROW [] synonym: "Prominent brow" EXACT layperson [] synonym: "Prominent supraorbital margins" EXACT [ORCID:0000-0001-5889-4463] synonym: "Prominent supraorbital ridge" EXACT [] synonym: "Protruding supraorbital ridge" EXACT [] synonym: "Supraorbital hyperostosis" EXACT [] xref: UMLS:C1842060 xref: UMLS:C4280636 xref: UMLS:C4280637 xref: UMLS:C4280638 xref: UMLS:C4280639 is_a: HP:0100538 ! Abnormality of the supraorbital ridges [Term] id: HP:0000337 name: Broad forehead alt_id: HP:0000352 alt_id: HP:0000354 def: "Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead." [pmid:19125436] comment: Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow. Note that this term should not be confused with prominent forehead. subset: hposlim_core synonym: "Bitemporal widening" EXACT [ORCID:0000-0001-5889-4463] synonym: "Broad forehead" EXACT layperson [] synonym: "Increased bitemporal dimension" EXACT [] synonym: "Increased bitemporal width" EXACT [] synonym: "Increased width of the forehead" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Intertemporal widening" EXACT [ORCID:0000-0001-5889-4463] synonym: "Wide forehead" EXACT layperson [] xref: UMLS:C1849089 is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0000338 name: Hypomimic face alt_id: HP:0008769 def: "A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation." [HPO:probinson] comment: The movement and position of facial muscles are often interpreted as expressing emotions. Individuals with hypomimic face may be perceived as expressing less emotion than normal. synonym: "Decreased facial expressions" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased facial muscle movement" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Dull facial expression" EXACT layperson [] synonym: "Hypomimia" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:248149005 xref: UMLS:C0813217 xref: UMLS:C1862474 xref: UMLS:C4280635 is_a: HP:0000301 ! Abnormality of facial musculature is_a: HP:0004673 ! Decreased facial expression [Term] id: HP:0000339 name: Pugilistic facies def: "Coarse facial features reminiscent of those of a boxer." [HPO:probinson] synonym: "Boxer-like facial appearance" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Pugilistic facial appearance" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1846011 is_a: HP:0000280 ! Coarse facial features [Term] id: HP:0000340 name: Sloping forehead alt_id: HP:0000351 alt_id: HP:0004480 alt_id: HP:0008493 alt_id: HP:0008500 def: "Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view." [pmid:19125436] comment: Measurement requires an angle meter, inclined on the anterior surface of the forehead, in the midline, along a line connecting the hairline to the glabella, compared to the vertical. subset: hposlim_core synonym: "Inclined forehead" EXACT layperson [] synonym: "Posteriorly sloping forehead" EXACT [ORCID:0000-0001-5889-4463] synonym: "Receding forehead" EXACT layperson [] synonym: "Sloping forehead" EXACT layperson [] xref: UMLS:C1857679 is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0000341 name: Narrow forehead alt_id: HP:0000314 alt_id: HP:0004674 alt_id: HP:0004677 def: "Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective)." [pmid:19125436] comment: A reduced distance between the temporal regions (temples) on each side of the head to one another. Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow. subset: hposlim_core synonym: "Bitemporal narrowing" EXACT [] synonym: "Bitemporal narrowness" EXACT [] synonym: "Bitemporal skull narrowing" EXACT [] synonym: "Decreased width of the forehead" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Intertemporal narrowing" EXACT [] synonym: "Narrow bitemporal diameter" EXACT [] synonym: "Narrow bitemporal width" EXACT [] synonym: "Narrow forehead" EXACT layperson [] synonym: "Temporal narrowness" EXACT [] xref: UMLS:C1839758 is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0000343 name: Long philtrum def: "Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border." [pmid:19152422] subset: hposlim_core synonym: "Elongated philtrum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased height of philtrum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased length of philtrum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased vertical dimension of philtrum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Vertical hyperplasia of philtrum" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1865014 is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0000346 name: Whistling appearance def: "An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling." [HPO:probinson, pmid:856233] synonym: "Whistling appearance" EXACT layperson [] synonym: "Whistling facial appearance" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1848473 is_a: HP:0000205 ! Pursed lips [Term] id: HP:0000347 name: Micrognathia alt_id: HP:0000210 alt_id: HP:0000330 alt_id: HP:0000345 alt_id: HP:0002005 alt_id: HP:0002674 alt_id: HP:0004669 alt_id: HP:0005460 alt_id: HP:0005470 def: "Developmental hypoplasia of the mandible." [HPO:probinson] comment: Mandibular hypoplasia, also known as micrognathia, is a term that describes an abnormally small lower jaw. subset: hposlim_core synonym: "Decreased projection of lower jaw" NARROW [ORCID:0000-0001-5889-4463] synonym: "Decreased projection of mandible" NARROW [ORCID:0000-0001-5889-4463] synonym: "Decreased size of lower jaw" EXACT [] synonym: "Decreased size of mandible" EXACT [] synonym: "Deficiency of lower jaw" BROAD [ORCID:0000-0001-5889-4463] synonym: "Hypoplasia of lower jaw" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypoplasia of mandible" EXACT [] synonym: "Hypoplastic mandible" EXACT [] synonym: "Hypoplastic mandible condyle" EXACT [] synonym: "Hypotrophic lower jaw" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypotrophic mandible" EXACT [ORCID:0000-0001-5889-4463] synonym: "Little lower jaw" EXACT layperson [] synonym: "Little mandible" EXACT [] synonym: "Lower jaw deficiency" EXACT [] synonym: "Lower jaw hypoplasia" EXACT [HPO:skoehler] synonym: "Lower jaw retrognathia" EXACT [] synonym: "Lower jaw retrusion" EXACT [] synonym: "Mandibular deficiency" EXACT [] synonym: "Mandibular hypoplasia" EXACT [] synonym: "Mandibular micrognathia" EXACT [] synonym: "Mandibular retrognathia" EXACT [] synonym: "Mandibular retrusion" EXACT [] synonym: "Micrognathia of lower jaw" EXACT [] synonym: "Micromandible" EXACT [] synonym: "Retrusion of lower jaw" RELATED [ORCID:0000-0001-5889-4463] synonym: "Robin mandible" EXACT [] synonym: "Severe hypoplasia of mandible" EXACT [] synonym: "Small jaw" EXACT layperson [] synonym: "Small lower jaw" EXACT layperson [] synonym: "Small mandible" EXACT [] synonym: "Underdevelopment of lower jaw" EXACT [] synonym: "Underdevelopment of mandible" EXACT [] xref: Fyler:4163 xref: MSH:D008844 xref: SNOMEDCT_US:32958008 xref: UMLS:C0025990 xref: UMLS:C0240295 xref: UMLS:C1857130 is_a: HP:0009118 ! Aplasia/Hypoplasia of the mandible [Term] id: HP:0000348 name: High forehead alt_id: HP:0000342 def: "An abnormally increased height of the forehead." [HPO:probinson] synonym: "High forehead" EXACT layperson [] synonym: "Tall forehead" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C0239676 xref: UMLS:C2677762 is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0000349 name: Widow's peak def: "Frontal hairline with bilateral arcs to a low point in the midline of the forehead." [pmid:19125436] comment: The hair may need to be pulled back to recognize this feature. Historically, English widows in the 18th century wore a black hat, triangular in shape, with a point facing forward in the midline. subset: hposlim_core synonym: "Hairline peak" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Hairline point" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "V-shaped frontal hairline" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Widow's peak" EXACT layperson [] xref: UMLS:C1853486 is_a: HP:0009890 ! High anterior hairline [Term] id: HP:0000350 name: Small forehead def: "The presence of a forehead that is abnormally small." [HPO:curators] synonym: "Decreased size of forehead" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased size of frontal region of face" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypoplasia of forehead" NARROW [ORCID:0000-0001-5889-4463] synonym: "Hypotrophic forehead" NARROW [ORCID:0000-0001-5889-4463] synonym: "Small forehead" EXACT layperson [] xref: UMLS:C1845250 xref: UMLS:C4280633 xref: UMLS:C4280634 is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0000356 name: Abnormality of the outer ear alt_id: HP:0001752 def: "An abnormality of the external ear." [HPO:probinson] synonym: "Abnormal pinnae" EXACT [] synonym: "Abnormality of the auricle" EXACT [] synonym: "Abnormality of the external ear" EXACT layperson [] synonym: "Abnormality of the outer ear" EXACT layperson [] synonym: "Ear anomalies" EXACT layperson [] synonym: "External ear malformations" EXACT layperson [] synonym: "Malformed pinnae" EXACT [] synonym: "Outer ear abnormality" EXACT layperson [] xref: SNOMEDCT_US:275259005 xref: UMLS:C0266589 xref: UMLS:C1846460 is_a: HP:0031703 ! Abnormal ear morphology [Term] id: HP:0000357 name: Abnormal location of ears def: "Abnormal location of the ear." [HPO:probinson] synonym: "Abnormal location of ears" EXACT layperson [] synonym: "External ear position defect" EXACT [] xref: UMLS:C4021810 is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0000358 name: Posteriorly rotated ears alt_id: HP:0008535 def: "A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)." [HPO:probinson, pmid:19152421] comment: Angle formed by the line perpendicular to the Frankfurt plane and the medial longitudinal axis of the ear (the two most remote points of the ear) greater than two standard deviations above the mean for age. subset: hposlim_core synonym: "Ear, posterior angulation, increased" EXACT [] synonym: "Ears rotated toward back of head" EXACT layperson [orcid.org/0000-0002-6548-5200] synonym: "Posteriorly angulated ears" EXACT [] synonym: "Posteriorly rotated" EXACT [] synonym: "Posteriorly rotated auricles" EXACT [] synonym: "Posteriorly-angulated ears" EXACT [] synonym: "Posteriorly-rotated ears" EXACT [] xref: SNOMEDCT_US:253251006 xref: UMLS:C0431478 is_a: HP:0000357 ! Abnormal location of ears [Term] id: HP:0000359 name: Abnormality of the inner ear def: "An abnormality of the inner ear." [HPO:probinson] synonym: "Abnormality of the inner ear" EXACT layperson [] synonym: "Inner ear abnormality" EXACT layperson [] xref: UMLS:C4021809 is_a: HP:0031703 ! Abnormal ear morphology [Term] id: HP:0000360 name: Tinnitus def: "Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation." [Cochrane:ab005233] subset: hposlim_core synonym: "Ringing in ears" EXACT layperson [] synonym: "Ringing in the ears" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D014012 xref: SNOMEDCT_US:162349004 xref: SNOMEDCT_US:162352007 xref: SNOMEDCT_US:60862001 xref: UMLS:C0040264 is_a: HP:0000364 ! Hearing abnormality [Term] id: HP:0000361 name: obsolete Pulsatile tinnitus (tympanic paraganglioma) is_obsolete: true replaced_by: HP:0008629 [Term] id: HP:0000362 name: Otosclerosis def: "In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss." [HPO:probinson, pmid:15931303] comment: Otosclerosis cannot be seen on an office examination. The audiogram indicates a conductive type of hearing loss. Testing of the stapedial reflexes indicates limited or no movement of the bones of hearing. subset: hposlim_core xref: MSH:D010040 xref: SNOMEDCT_US:11543004 xref: UMLS:C0029899 is_a: HP:0008628 ! Abnormality of the stapes [Term] id: HP:0000363 name: Abnormality of earlobe def: "An abnormality of the lobule of pinna." [HPO:probinson] subset: hposlim_core synonym: "Abnormal earlobe" EXACT layperson [] synonym: "Abnormal lobe of ear" EXACT [] synonym: "Abnormality of auricular lobule" EXACT [] synonym: "Abnormality of ear lobe" EXACT layperson [] synonym: "Abnormality of earlobe" EXACT layperson [] synonym: "Abnormality of lobulus auriculae" EXACT [] xref: UMLS:C4021808 is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0000364 name: Hearing abnormality def: "An abnormality of the sensory perception of sound." [HPO:probinson] comment: According to the World Health Organization, deafness refers to the complete loss of hearing ability in one or two ears. Hearing impairment refers to both complete and partial loss of the ability to hear. synonym: "Abnormal hearing" EXACT layperson [HPO:skoehler] synonym: "Hearing abnormality" EXACT layperson [] xref: UMLS:C4025860 is_a: HP:0031704 ! Abnormal ear physiology [Term] id: HP:0000365 name: Hearing impairment alt_id: HP:0000404 alt_id: HP:0001728 alt_id: HP:0001729 alt_id: HP:0001754 alt_id: HP:0008560 alt_id: HP:0008563 def: "A decreased magnitude of the sensory perception of sound." [HPO:probinson] comment: Hearing loss can be categorized by which part of the auditory system is damaged, as conductive hearing loss, sensorineural hearing loss, and mixed hearing loss. Another axis of classification uses the degree of hearing impairment. The degree of hearing loss is computed by using a three frequency average taken at 500 Hz, 1,000 Hz and 2,000 Hz. The average of these three frequencies is called the Pure Tone Average (PTA). 0-20 dB is considered normal, 21-40 dB mild loss, 41-60 dB moderate loss, 61-70 dB moderately severe loss,71-90 dB severe loss, and greater than 90 dB profound loss. Note that the word deafness is occasionally used to describe partial hearing loss. The World Health Organization uses the word deafness to refer to complete loss of the ability to hear, and hearing impairment to refer to any degree of reduced hearing. synonym: "Congenital deafness" EXACT [] synonym: "Congenital hearing loss" EXACT [] synonym: "Deafness" EXACT layperson [] synonym: "Hearing defect" EXACT layperson [] synonym: "Hearing impairment" EXACT layperson [] synonym: "Hearing loss" RELATED layperson [] synonym: "Hypoacusis" RELATED [] xref: Fyler:4868 xref: MSH:D003638 xref: MSH:D034381 xref: SNOMEDCT_US:103276001 xref: SNOMEDCT_US:15188001 xref: SNOMEDCT_US:343087000 xref: SNOMEDCT_US:95828007 xref: UMLS:C0011053 xref: UMLS:C0018772 xref: UMLS:C0339789 xref: UMLS:C1384666 is_a: HP:0000364 ! Hearing abnormality [Term] id: HP:0000366 name: Abnormality of the nose def: "An abnormality of the nose." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the nose" EXACT layperson [] synonym: "Anomaly of the nose" EXACT [ORCID:0000-0001-5889-4463] synonym: "Deformity of the nose" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of the nose" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Nasal abnormality" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Nasal anomaly" EXACT [ORCID:0000-0001-5889-4463] synonym: "Nasal deformity" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Nasal malformation" NARROW layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:128274005 xref: SNOMEDCT_US:72089000 xref: UMLS:C0240547 xref: UMLS:C0265736 xref: UMLS:C2235909 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000368 name: Low-set, posteriorly rotated ears def: "Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358)." [HPO:probinson] comment: This bundled term is left for convenience because of its common use in the literature. It is preferable to code each feature separately. synonym: "Low-set posteriorly rotated ears" EXACT [] xref: UMLS:C1857486 is_a: HP:0000358 ! Posteriorly rotated ears is_a: HP:0000369 ! Low-set ears [Term] id: HP:0000369 name: Low-set ears def: "Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear." [HPO:probinson, pmid:19152421] subset: hposlim_core synonym: "Low set ears" EXACT layperson [] synonym: "Low-set ears" EXACT layperson [] synonym: "Lowset ears" EXACT layperson [] synonym: "Melotia" EXACT [] xref: SNOMEDCT_US:95515009 xref: UMLS:C0239234 is_a: HP:0000357 ! Abnormal location of ears [Term] id: HP:0000370 name: Abnormality of the middle ear def: "An abnormality of the middle ear." [HPO:probinson] subset: hposlim_core synonym: "Middle ear abnormalities" EXACT [] synonym: "Middle ear abnormality" EXACT [] xref: UMLS:C1861141 is_a: HP:0031703 ! Abnormal ear morphology [Term] id: HP:0000371 name: Acute otitis media def: "Acute otitis media is a short and generally painful infection of the middle ear." [HPO:probinson] synonym: "Acute middle ear infection" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:3110003 xref: UMLS:C0271429 is_a: HP:0000388 ! Otitis media [Term] id: HP:0000372 name: Abnormality of the auditory canal def: "An abnormality of the External acoustic tube (also known as the auditory canal)." [HPO:probinson] synonym: "Auditory canal abnormality" EXACT [] xref: UMLS:C4021807 is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0000375 name: Abnormal cochlea morphology def: "An abnormality of the cochlea." [HPO:probinson] comment: The cochlea is an inner ear structure comprised of a snail-shell like structure divided into three fluid-filled parts. Two are canals for the transmission of pressure and in the third is the organ of Corti, which detects pressure impulses and responds with electrical impulses which travel along the auditory nerve to the brain. synonym: "Abnormality of cochlea" EXACT [] xref: UMLS:C4025858 is_a: HP:0011390 ! Morphological abnormality of the inner ear [Term] id: HP:0000376 name: Incomplete partition of the cochlea type II def: "IWith incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation." [HPO:probinson, PMID:21849370] synonym: "Mondini malformation" RELATED [] xref: UMLS:C1857078 xref: UMLS:C4025857 is_a: HP:0011373 ! Incomplete partition of the cochlea [Term] id: HP:0000377 name: Abnormality of the pinna alt_id: HP:0000390 alt_id: HP:0000398 alt_id: HP:0004465 alt_id: HP:0008562 alt_id: HP:0008566 alt_id: HP:0008567 alt_id: HP:0008580 alt_id: HP:0008582 alt_id: HP:0008602 def: "An abnormality of the pinna, which is also referred to as the auricle or external ear." [HPO:probinson] comment: The term 'dysplastic' is no longer accepted as a descriptor for an ear with unusual morphology. Each specific anatomical component of the ear should be described when the ear is thought to be abnormal in appearance. synonym: "Abnormal form of ears" EXACT [] synonym: "Abnormally shaped ears" EXACT layperson [] synonym: "Auricular malformation" EXACT layperson [] synonym: "Deformed auricles" EXACT [] synonym: "Deformed ears" EXACT layperson [] synonym: "Dysplastic ears" EXACT [] synonym: "Malformation of auricle" EXACT [] synonym: "Malformed auricles" EXACT [] synonym: "Malformed ears" EXACT layperson [] synonym: "Malformed external ears" EXACT [] synonym: "Minor malformation of the auricles" EXACT [] synonym: "Poorly defined conchae" EXACT [] synonym: "Simple ears" EXACT layperson [] xref: SNOMEDCT_US:253255002 xref: UMLS:C0431483 xref: UMLS:C0857379 is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0000378 name: Cupped ear alt_id: HP:0008531 alt_id: HP:0008600 def: "Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura)." [HPO:probinson, pmid:19162421] subset: hposlim_core synonym: "Capuchin ears" RELATED [] synonym: "Cup-shaped ears" EXACT layperson [] synonym: "Cupped ear" EXACT layperson [] synonym: "Cupped ears" RELATED [HPO:skoehler] synonym: "Simple, cup-shaped ears" EXACT layperson [] xref: UMLS:C1845447 xref: UMLS:C4020892 is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0000381 name: Stapes ankylosis def: "Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles)." [HPO:probinson, pmid:12089654] comment: Stapes ankylosis may be congenital or acquired, in which case it is referred to as otosclerosis. Otosclerosis is the most common cause of progressive conductive hearing loss in adults, and is generally manifested as nonsyndromic, delayed-onset, conductive hearing loss, but it may also affect the inner ear to cause sensorineural loss. Congenital stapes ankylosis may be difficult to differentiate from otosclerosis when the diagnosis of conductive hearing loss is delayed. subset: hposlim_core xref: UMLS:C1861326 is_a: HP:0008628 ! Abnormality of the stapes [Term] id: HP:0000383 name: Abnormality of periauricular region synonym: "Abnormality of the region around the ear" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Anomaly of the periauricular region" NARROW [ORCID:0000-0001-5889-4463] synonym: "Deformity of the periauricular region" NARROW [ORCID:0000-0001-5889-4463] synonym: "Malformation of the periauricular region" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4025856 is_a: HP:0004426 ! Abnormality of the cheek [Term] id: HP:0000384 name: Preauricular skin tag alt_id: HP:0008575 alt_id: HP:0100278 def: "A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear)." [HPO:probinson] synonym: "Ear tag" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Periauricular skin tag" EXACT [] synonym: "Preauricular acrochordon" EXACT [ORCID:0000-0001-5889-4463] synonym: "Preauricular fibroepithelial polyp" EXACT [ORCID:0000-0001-5889-4463] synonym: "Preauricular skin tags" EXACT [] synonym: "Preauricular tag" EXACT [] synonym: "Preauricular tags" EXACT [] synonym: "Skin tag in front of the ear" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Skin tag on the posterior cheek" BROAD layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1860816 xref: UMLS:C4072826 is_a: HP:0000383 ! Abnormality of periauricular region is_a: HP:0010609 ! Skin tags [Term] id: HP:0000385 name: Small earlobe alt_id: HP:0008616 def: "Reduced volume of the earlobe." [HPO:probinson, pmid:19152421] comment: All gradations in size of the earlobe may be seen from absent to clearly enlarged compared to average. This finding is highly variable. subset: hposlim_core synonym: "Hypoplastic earlobes" EXACT [] synonym: "Hypoplastic lobules" EXACT [] synonym: "Small earlobe" EXACT layperson [] synonym: "Small earlobes" EXACT layperson [HPO:skoehler] xref: UMLS:C1842680 is_a: HP:0009906 ! Aplasia/Hypoplasia of the earlobes [Term] id: HP:0000387 name: Absent earlobe def: "Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura." [HPO:probinson, pmid:19152421] subset: hposlim_core synonym: "Absent ear lobes" EXACT [] synonym: "Absent earlobe" EXACT layperson [] synonym: "Earlobe, absent" EXACT layperson [] synonym: "Lobeless ears" EXACT layperson [] xref: UMLS:C1849364 is_a: HP:0009906 ! Aplasia/Hypoplasia of the earlobes [Term] id: HP:0000388 name: Otitis media def: "Inflammation or infection of the middle ear." [HPO:probinson] synonym: "Middle ear infection" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D010033 xref: SNOMEDCT_US:65363002 xref: UMLS:C0029882 is_a: HP:0000370 ! Abnormality of the middle ear is_a: HP:0012649 ! Increased inflammatory response [Term] id: HP:0000389 name: Chronic otitis media alt_id: HP:0008524 def: "Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear." [HPO:probinson] subset: hposlim_core synonym: "Chronic ear infection" RELATED [] synonym: "Chronic infections of the middle ear" EXACT layperson [orcid.org/0000-0002-6548-5200] synonym: "Chronic middle ear infection" RELATED layperson [] synonym: "Otitis media, chronic" EXACT [HPO:skoehler] xref: SNOMEDCT_US:21186006 xref: UMLS:C0271441 xref: UMLS:C0743359 is_a: HP:0000388 ! Otitis media [Term] id: HP:0000391 name: Thickened helices def: "Increased thickness of the helix of the ear." [HPO:probinson] subset: hposlim_core synonym: "Thick helix" EXACT [] xref: UMLS:C1837732 is_a: HP:0011039 ! Abnormality of the helix [Term] id: HP:0000394 name: Lop ear def: "Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha." [HPO:probinson, pmid:19152421] comment: The term 'lop ear' refers to excessive protrusion of the ear from the side of the head, that is, the external ear stands away from the head at a greater than normal angle (Normal angle of the auricle to the median plane averages 25 degrees in boys and 18 degrees in girls). Lop ears are usually larger than normal ears. Mild forms are limited to the superior ear, more severe forms affect the superior and posterior ear. The concha may be excessively concave. This should be distinguished from an Overfolded helix where the external contour of the ear is normal. subset: hposlim_core xref: SNOMEDCT_US:76223006 xref: UMLS:C0266614 is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0000395 name: Prominent antihelix def: "The presence of an abnormally prominent antihelix." [HPO:probinson] subset: hposlim_core xref: UMLS:C1845272 is_a: HP:0009738 ! Abnormality of the antihelix [Term] id: HP:0000396 name: Overfolded helix alt_id: HP:0001758 alt_id: HP:0008570 def: "A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear." [HPO:probinson, pmid:19152421] comment: This is most often seen in the superior helix where it must be distinguished from a Lop ear (where the usual convexity of the posterior border of the ear is lost). Helix folding is highly variable. subset: hposlim_core synonym: "Over-folded helices" EXACT [] synonym: "Overfolded ears" EXACT layperson [] synonym: "Overfolded helices" EXACT [] xref: UMLS:C1837731 is_a: HP:0008544 ! Abnormally folded helix [Term] id: HP:0000399 name: Prelingual sensorineural hearing impairment alt_id: HP:0001731 def: "A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech." [HPO:probinson] synonym: "Deafness, sensorineural, prelingual" EXACT [] synonym: "Prelingual sensorineural deafness" EXACT [] xref: UMLS:C4021806 is_a: HP:0011474 ! Childhood onset sensorineural hearing impairment [Term] id: HP:0000400 name: Macrotia alt_id: HP:0000382 alt_id: HP:0000386 alt_id: HP:0000401 alt_id: HP:0001755 def: "Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective)." [pmid:19152421] comment: This is acknowledged to be a bundled term but retained here because of its usefulness in practice. Ear length is determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. If only length is increased the term Long ear should be used. subset: hposlim_core synonym: "Large ears" EXACT layperson [] synonym: "Large pinnae" EXACT [] xref: SNOMEDCT_US:275480001 xref: SNOMEDCT_US:69056000 xref: UMLS:C0152421 xref: UMLS:C0554972 xref: UMLS:C1835581 xref: UMLS:C1848570 xref: UMLS:C1850189 xref: UMLS:C1855062 xref: UMLS:C1860838 is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0000402 name: Stenosis of the external auditory canal alt_id: HP:0000373 def: "An abnormal narrowing of the external auditory canal." [HPO:probinson] subset: hposlim_core synonym: "External auditory canal stenosis" EXACT [] synonym: "Narrow auditory canals" EXACT [] synonym: "Narrow ear canal" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Narrow external auditory canals" EXACT [] synonym: "Narrow external auditory meatus" EXACT [] synonym: "Narrowing of passageway from outer ear to middle ear" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Stenotic external auditory canal" EXACT [] xref: SNOMEDCT_US:300127002 xref: SNOMEDCT_US:301061006 xref: UMLS:C0395837 xref: UMLS:C0576860 is_a: HP:0000372 ! Abnormality of the auditory canal [Term] id: HP:0000403 name: Recurrent otitis media alt_id: HP:0008622 alt_id: HP:0008623 alt_id: HP:0008624 def: "Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media." [HPO:probinson] synonym: "Frequent otitis media" EXACT [] synonym: "Multiple episodes of otitis media" EXACT [] synonym: "Otitis media, recurrent" EXACT [HPO:skoehler] synonym: "Recurrent episodes of otitis media" EXACT [] synonym: "Recurrent middle ear infection" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Susceptibility to otitis media" EXACT [] xref: UMLS:C0747085 is_a: HP:0000388 ! Otitis media is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0000405 name: Conductive hearing impairment alt_id: HP:0000367 alt_id: HP:0008581 def: "An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound." [HPO:probinson] comment: A conductive hearing impariment with greater than 90 dB loss. subset: hposlim_core synonym: "Conduction deafness" EXACT [] synonym: "Conductive deafness" EXACT layperson [] synonym: "Conductive hearing loss" EXACT layperson [] synonym: "Hearing loss, conductive" EXACT [] xref: MSH:D006314 xref: SNOMEDCT_US:44057004 xref: UMLS:C0018777 is_a: HP:0000365 ! Hearing impairment is_a: HP:0011452 ! Functional abnormality of the middle ear [Term] id: HP:0000407 name: Sensorineural hearing impairment alt_id: HP:0000374 alt_id: HP:0001753 alt_id: HP:0001916 alt_id: HP:0008538 alt_id: HP:0008553 alt_id: HP:0008565 alt_id: HP:0008576 alt_id: HP:0008611 alt_id: HP:0008613 alt_id: HP:0008614 def: "A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve." [HPO:probinson] comment: Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII, also known as the cochlear nerve). subset: hposlim_core synonym: "Hearing loss, sensorineural" EXACT [HPO:skoehler] synonym: "Sensorineural deafness" EXACT [] synonym: "Sensorineural hearing loss" EXACT [] xref: MSH:D006319 xref: SNOMEDCT_US:60700002 xref: UMLS:C0018784 is_a: HP:0000365 ! Hearing impairment is_a: HP:0011389 ! Functional abnormality of the inner ear [Term] id: HP:0000408 name: Progressive sensorineural hearing impairment alt_id: HP:0000397 alt_id: HP:0000406 alt_id: HP:0008592 alt_id: HP:0008601 alt_id: HP:0008617 def: "A progressive form of sensorineural hearing impairment." [HPO:probinson] synonym: "Bilateral progressive sensorineural hearing loss" EXACT [] synonym: "Hearing loss, progressive sensorineural" EXACT [] synonym: "Hearing loss, sensorineural, bilateral, progressive" EXACT [] synonym: "Hearing loss, sensorineural, progressive" EXACT [] synonym: "Progressive bilateral sensorineural hearing loss" EXACT [] synonym: "Sensorineural hearing loss, progressive" EXACT [] xref: UMLS:C1843156 is_a: HP:0000407 ! Sensorineural hearing impairment is_a: HP:0001730 ! Progressive hearing impairment [Term] id: HP:0000410 name: Mixed hearing impairment def: "A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment." [HPO:probinson] synonym: "Hearing loss, mixed" EXACT layperson [HPO:skoehler] synonym: "Mixed hearing impairment" EXACT layperson [] synonym: "Mixed hearing loss" EXACT layperson [] xref: MSH:D046089 xref: SNOMEDCT_US:77507001 xref: UMLS:C0155552 is_a: HP:0000405 ! Conductive hearing impairment is_a: HP:0000407 ! Sensorineural hearing impairment [Term] id: HP:0000411 name: Protruding ear alt_id: HP:0000412 def: "Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective)." [pmid:19152421] synonym: "Prominent ear" EXACT layperson [] synonym: "Prominent ears" EXACT layperson [] synonym: "Protruding ears" RELATED layperson [HPO:skoehler] xref: SNOMEDCT_US:275478007 xref: UMLS:C1305420 xref: UMLS:C1855285 is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0000413 name: Atresia of the external auditory canal alt_id: HP:0008547 alt_id: HP:0008564 alt_id: HP:0008626 def: "Absence or failure to form of the external auditory canal." [HPO:probinson] subset: hposlim_core synonym: "Absent auditory canals" EXACT [] synonym: "Absent ear canal" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent external auditory canals" EXACT [] synonym: "Atresia of the external auditory canals" RELATED [HPO:skoehler] synonym: "Atretic auditory canal" EXACT [] synonym: "Atretic auditory canals" EXACT [] synonym: "Atretic external auditory canal" EXACT [] synonym: "Atretic external auditory canals" EXACT [] synonym: "Auditory canal atresia" EXACT [] synonym: "External acoustic meatus atresia" EXACT [] synonym: "External auditory canal atresia" EXACT [] synonym: "External auditory meatal atresia" EXACT [] synonym: "External auditory meatus atresia" EXACT [] xref: UMLS:C1398325 xref: UMLS:C1840305 xref: UMLS:C1857079 xref: UMLS:C1866190 is_a: HP:0000372 ! Abnormality of the auditory canal [Term] id: HP:0000414 name: Bulbous nose alt_id: HP:0000443 def: "Increased volume and globular shape of the anteroinferior aspect of the nose." [pmid:19152422] comment: This is a bundled term, but as it is useful in practice it is kept here. This alteration of size and shape may be limited to the tip, but may involve the lower third of the nose. If only the width of the nasal tip is increased this should be coded as Broad nasal tip. synonym: "Bulbous nasal tip" RELATED [] synonym: "Bulbous nose" EXACT layperson [] synonym: "Potato nose" RELATED layperson [ORCID:0000-0001-5889-4463] xref: MSH:C538354 xref: UMLS:C0240543 xref: UMLS:C1834118 xref: UMLS:C1855751 is_a: HP:0000436 ! Abnormality of the nasal tip is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000415 name: Abnormality of the choanae def: "Abnormality of the choanae (the posterior nasal apertures)." [HPO:curators] xref: UMLS:C4025855 is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000417 name: Slender nose synonym: "Slender nose" EXACT layperson [] xref: UMLS:C1857645 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000418 name: Narrow nasal ridge def: "Decreased width of the nasal ridge." [pmid:19152422] comment: This feature may be accompanied by narrow nasal bridge and narrow nasal base, which should be coded separately. synonym: "Decreased width of dorsum of nose" EXACT [] synonym: "Decreased width of nasal dorsum" EXACT [] synonym: "Decreased width of nasal ridge" EXACT layperson [] synonym: "Narrow dorsum of nose" EXACT [] synonym: "Narrow nasal dorsum" EXACT [] synonym: "Narrow nasal ridge" EXACT layperson [] synonym: "Pinched nose" EXACT layperson [] synonym: "Thin dorsum of nose" EXACT [] synonym: "Thin nasal dorsum" EXACT [] synonym: "Thin nasal ridge" EXACT layperson [] xref: UMLS:C1837761 is_a: HP:0011119 ! Abnormality of the nasal dorsum [Term] id: HP:0000419 name: Abnormality of the nasal septum def: "An abnormality of the nasal septum." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the nasal septum" EXACT layperson [] synonym: "Anomaly of nasal septum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Anomaly of septum of nose" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:95433000 xref: UMLS:C0151790 is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000420 name: Short nasal septum def: "Reduced superior to inferior length of the nasal septum." [HPO:probinson] subset: hposlim_core synonym: "Decreased length of nasal septum" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased length of septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Short nasal septum" EXACT layperson [] synonym: "Short septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1844857 is_a: HP:0000419 ! Abnormality of the nasal septum [Term] id: HP:0000421 name: Epistaxis def: "Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose." [HPO:probinson] synonym: "Bloody nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Frequent nosebleeds" EXACT layperson [] synonym: "Nose bleeding" EXACT layperson [] synonym: "Nosebleed" EXACT layperson [] xref: MSH:D004844 xref: SNOMEDCT_US:12441001 xref: SNOMEDCT_US:249366005 xref: UMLS:C0014591 is_a: HP:0000366 ! Abnormality of the nose is_a: HP:0001892 ! Abnormal bleeding [Term] id: HP:0000422 name: Abnormality of the nasal bridge alt_id: HP:0000423 def: "Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi." [HPO:probinson, pmid:19152422] comment: The nasal root is the most depressed, superior part of the nose along the nasal ridge. subset: hposlim_core synonym: "Abnormality of the bridge of the nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the nasal bridge" EXACT layperson [] synonym: "Abnormality of the nasal root" EXACT [] synonym: "Deformity of the bridge of the nose" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Deformity of the nasal bridge" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of the bridge of the nose" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of the nasal bridge" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021805 is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000426 name: Prominent nasal bridge alt_id: HP:0000432 alt_id: HP:0000442 alt_id: HP:0004498 alt_id: HP:0005287 def: "Anterior positioning of the nasal root in comparison to the usual positioning for age." [pmid:19152422] comment: A prominent nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed separately. The nasal bridge becomes more prominent with age. Although the nasal root may be anteriorly placed without increasing the space between the eyes, prominence of the nasal bridge may be accompanied by Telecanthus or ocular Hypertelorism. If such findings are present these should be coded separately. Deep-set eyes may lead to the impression of a prominent nasal bridge, but this finding should be coded separately. synonym: "Convex bridge of nose" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Convex nasal bridge" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Elevated nasal bridge" EXACT layperson [] synonym: "High nasal bridge" EXACT layperson [] synonym: "Prominent bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Prominent nasal bridge" EXACT layperson [] synonym: "Prominent nasal root" EXACT layperson [] synonym: "Protruding bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Protruding nasal bridge" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1854113 xref: UMLS:C4230640 is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0000429 name: Abnormality of the nasal alae def: "An abnormality of the Ala of nose." [HPO:probinson, pmid:19152422] comment: The nasal ala is the tissue comprising the lateral boundary of the nose, inferiorly, surrounding the naris. subset: hposlim_core synonym: "Abnormality of the nasal ala" EXACT [] synonym: "Abnormality of the nasal alar cartilage" NARROW [ORCID:0000-0001-5889-4463] synonym: "Deformity of the nasal ala" NARROW [ORCID:0000-0001-5889-4463] synonym: "Deformity of the nasal alar cartilage" NARROW [ORCID:0000-0001-5889-4463] synonym: "Malformation of the nasal ala" NARROW [ORCID:0000-0001-5889-4463] synonym: "Malformation of the nasal alar cartilage" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C2227020 xref: UMLS:C4021804 xref: UMLS:C4280631 xref: UMLS:C4280632 is_a: HP:0010938 ! Abnormality of the external nose [Term] id: HP:0000430 name: Underdeveloped nasal alae alt_id: HP:0004497 alt_id: HP:0004507 alt_id: HP:0005276 alt_id: HP:0005277 alt_id: HP:0005286 def: "Thinned, deficient, or excessively arched ala nasi." [pmid:19152422] comment: The alae nasi are the lateral portions of the nose or the wings of the nostrils, which partly encircle the nostrils (nares). They are usually about the width of the columella, but vary greatly depending on the shape of the nostril. Note that individuals may be described as having a Cleft ala nasi, but have a severely underdeveloped ala nasi. In an underdeveloped ala the continuity of the tissue encircling the nostril is undisturbed while in a cleft it is disrupted. With severe hypoplasia of the nasal alae, the nasal tip may appear depressed. subset: hposlim_core synonym: "Ala nasi, underdeveloped" EXACT [] synonym: "Alar cartilage hypoplasia" EXACT [] synonym: "Decreased size of nasal alae" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypoplastic alae nasae" EXACT [] synonym: "Hypoplastic alae nasi" EXACT [] synonym: "Hypoplastic alar cartilage" EXACT [] synonym: "Hypoplastic alar nasae" EXACT [] synonym: "Hypoplastic nares" EXACT [] synonym: "Hypoplastic nasal alae" EXACT [] synonym: "Hypoplastic nasal wings" EXACT [] synonym: "Hypoplastic nostrils" EXACT [] synonym: "Nasal cartilage hypoplasia" EXACT [] synonym: "Small nasal alae" EXACT [ORCID:0000-0001-5889-4463] synonym: "Thin hypoplastic alae nasi" EXACT [] synonym: "Underdeveloped tissue around nostril" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1834055 is_a: HP:0000429 ! Abnormality of the nasal alae is_a: HP:0009924 ! Aplasia/Hypoplasia involving the nose [Term] id: HP:0000431 name: Wide nasal bridge alt_id: HP:0000424 alt_id: HP:0004500 alt_id: HP:0004504 alt_id: HP:0004650 alt_id: HP:0200139 def: "Increased breadth of the nasal bridge (and with it, the nasal root)." [HPO:probinson, pmid:19152422] comment: Care should be taken to distinguish between increased width of bone and Fullness of paranasal tissue. A wide nasal bridge should be distinguished from Telecanthus and Hypertelorism. A wide nasal bridge can be either prominent or depressed, which should be coded separately. synonym: "Broad flat nasal bridge" RELATED layperson [HPO:skoehler] synonym: "Broad nasal bridge" EXACT layperson [] synonym: "Broad nasal root" EXACT layperson [] synonym: "Broadened nasal bridge" EXACT layperson [] synonym: "Increased breadth of bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased breadth of nasal bridge" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased width of bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased width of nasal bridge" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Nasal bridge broad" EXACT layperson [] synonym: "Nasal bridge, wide" EXACT [] synonym: "Wide bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Wide nasal bridge" EXACT layperson [] synonym: "Widened nasal bridge" EXACT layperson [] xref: SNOMEDCT_US:249321001 xref: UMLS:C1839764 xref: UMLS:C1849367 is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0000433 name: Abnormality of the nasal mucosa synonym: "Abnormality of mucosa of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of mucous membrane of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of nasal mucous membrane" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the nasal mucosa" EXACT layperson [] xref: UMLS:C4025854 is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000434 name: Nasal mucosa telangiectasia def: "Telangiectasia of the nasal mucosa." [HPO:probinson] synonym: "Angioectasia of mucosa of nose" EXACT [ORCID:0000-0001-5889-4463] synonym: "Angioectasia of mucous membrane of nose" EXACT [ORCID:0000-0001-5889-4463] synonym: "Angioectasia of nasal mucous membrane" EXACT [ORCID:0000-0001-5889-4463] synonym: "Nasal mucous membrane telangiectasia" EXACT [ORCID:0000-0001-5889-4463] synonym: "Spider veins of mucosa of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Spider veins of mucous membrane of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Spider veins of nasal mucous membrane" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Telangiectasia of mucosa of nose" EXACT [ORCID:0000-0001-5889-4463] synonym: "Telangiectasia of mucous membrane of nose" EXACT [ORCID:0000-0001-5889-4463] synonym: "Telangiectasia of nasal mucous membrane" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025853 is_a: HP:0000433 ! Abnormality of the nasal mucosa is_a: HP:0100579 ! Mucosal telangiectasiae [Term] id: HP:0000436 name: Abnormality of the nasal tip def: "An abnormality of the nasal tip." [HPO:probinson, pmid:19152422] comment: The nasal tip is located at the junction of the inferior margin of the nasal ridge and the columella. Commonly, it is the part of the nose furthest from the plane of the face. In rare circumstances, such as markedly prominent and convex nasal profiles, other parts of the ridge may be further removed from the facial plane. subset: hposlim_core synonym: "Abnormality of the nasal tip" EXACT layperson [] synonym: "Abnormality of tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Deformity of the nasal tip" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Deformity of tip of nose" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of the nasal tip" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of tip of nose" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025852 is_a: HP:0010938 ! Abnormality of the external nose [Term] id: HP:0000437 name: Depressed nasal tip alt_id: HP:0005279 def: "Decreased distance from the nasal tip to the nasal base." [pmid:19152422] comment: This often accompanies a Short columella, Overhanging nasal tip, and Underdeveloped nasal tip, but these should be assessed and coded separately. subset: hposlim_core synonym: "Caved in nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Depressed nasal tip" EXACT layperson [] synonym: "Depressed tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Flat nasal tip" EXACT layperson [] synonym: "Flat tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Flattened nasal tip" EXACT layperson [] synonym: "Nasal tip, depressed" EXACT layperson [] synonym: "Nasal tip, recessed" EXACT [] synonym: "Nasal tip, retruded" EXACT [] synonym: "Retruded tip of nose" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1859717 is_a: HP:0000436 ! Abnormality of the nasal tip [Term] id: HP:0000444 name: Convex nasal ridge def: "Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low." [pmid:19152422] subset: hposlim_core synonym: "Beaked nose" EXACT layperson [] synonym: "Beaklike protrusion" EXACT layperson [] synonym: "Convex dorsum of nose" EXACT [ORCID:0000-0001-5889-4463] synonym: "Convex nasal dorsum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hooked nose" EXACT layperson [] synonym: "Polly beak nasal deformity" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C0240538 is_a: HP:0011119 ! Abnormality of the nasal dorsum [Term] id: HP:0000445 name: Wide nose alt_id: HP:0000438 def: "Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae." [pmid:19152422] subset: hposlim_core synonym: "Broad nose" EXACT layperson [] synonym: "Increased breadth of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased nasal breadth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased nasal width" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased width of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Wide nose" EXACT layperson [] xref: SNOMEDCT_US:249321001 xref: UMLS:C0426421 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000446 name: Narrow nasal bridge alt_id: HP:0100782 def: "Decreased width of the bony bridge of the nose." [pmid:19152422] comment: The narrowness may be accompanied by a sharp, keel-shaped appearance. The nasal bridge may narrow with age. subset: hposlim_core synonym: "Narrow bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Narrow nasal bridge" EXACT layperson [] synonym: "Narrow nasal root" EXACT [] synonym: "Nasal Bridge, Narrow" EXACT layperson [] synonym: "Nasal bridge, thin" EXACT layperson [] synonym: "Pinched bridge of nose" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Pinched nasal bridge" RELATED layperson [] xref: SNOMEDCT_US:249322008 xref: UMLS:C0426422 xref: UMLS:C4020891 xref: UMLS:C4280630 is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0000447 name: Pear-shaped nose synonym: "Pear-shaped nose" EXACT layperson [] xref: UMLS:C1853482 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000448 name: Prominent nose alt_id: HP:0000461 alt_id: HP:0005271 alt_id: HP:0200140 def: "Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip." [pmid:19152422] subset: hposlim_core synonym: "Big nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Disproportionately large nose" EXACT layperson [] synonym: "Hyperplasia of nose" RELATED [ORCID:0000-0001-5889-4463] synonym: "Hypertrophy of nose" RELATED [ORCID:0000-0001-5889-4463] synonym: "Increased nasal size" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased size of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Large nose" EXACT layperson [] synonym: "Nasal hyperplasia" RELATED [ORCID:0000-0001-5889-4463] synonym: "Nasal hypertrophy" RELATED [ORCID:0000-0001-5889-4463] synonym: "Prominent nose" EXACT layperson [] synonym: "Pronounced nose" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:249311009 xref: UMLS:C0426415 xref: UMLS:C1400105 xref: UMLS:C4280629 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000451 name: Triangular nasal tip synonym: "Triangular nasal tip" EXACT layperson [] synonym: "Triangular shaped tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1839765 is_a: HP:0000436 ! Abnormality of the nasal tip [Term] id: HP:0000452 name: Choanal stenosis def: "Abnormal narrowing of the choana (the posterior nasal aperture)." [HPO:probinson] subset: hposlim_core synonym: "Coanal stenosis" EXACT [] synonym: "Narrowing of the rear opening of the nasal cavity" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:306963008 xref: UMLS:C0584837 is_a: HP:0000415 ! Abnormality of the choanae [Term] id: HP:0000453 name: Choanal atresia alt_id: HP:0000416 alt_id: HP:0004503 def: "Absence or abnormal closure of the choana (the posterior nasal aperture)." [HPO:probinson] subset: hposlim_core synonym: "Blockage of the rear opening of the nasal cavity" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Obstruction of the rear opening of the nasal cavity" EXACT layperson [ORCID:0000-0001-5889-4463] xref: Fyler:4203 xref: MSH:D002754 xref: SNOMEDCT_US:204508009 xref: UMLS:C0008297 is_a: HP:0000415 ! Abnormality of the choanae [Term] id: HP:0000454 name: Flared nostrils synonym: "Flared nasal alae" EXACT [] synonym: "Flared nostrils" EXACT layperson [] xref: SNOMEDCT_US:21558008 xref: SNOMEDCT_US:248568003 xref: UMLS:C0277873 is_a: HP:0000429 ! Abnormality of the nasal alae [Term] id: HP:0000455 name: Broad nasal tip alt_id: HP:0004501 alt_id: HP:0005269 def: "Increase in width of the nasal tip." [HPO:probinson, pmid:19152422] comment: Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available. See Bulbous nose for a related term. synonym: "Broad nasal tip" EXACT layperson [] synonym: "Broad tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Broad upturned nose" RELATED layperson [] synonym: "Broad, upturned nose" EXACT layperson [] synonym: "Increased breadth of nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased breadth of tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased width of nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased width of tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Nasal tip, broad" EXACT layperson [] synonym: "Nasal tip, wide" EXACT layperson [] synonym: "Wide tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:249327002 xref: UMLS:C0426429 is_a: HP:0000436 ! Abnormality of the nasal tip is_a: HP:0000463 ! Anteverted nares [Term] id: HP:0000456 name: Bifid nasal tip alt_id: HP:0005282 def: "A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip." [HPO:sdoelken, pmid:19152422] comment: This is a rare congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation. synonym: "Bifid tip of nose" EXACT [ORCID:0000-0001-5889-4463] synonym: "Cleft nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Cleft tip of nose" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Notched nasal tip" RELATED layperson [] synonym: "Notched tip of nose" RELATED layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:249326006 xref: UMLS:C0426428 xref: UMLS:C4020890 is_a: HP:0000436 ! Abnormality of the nasal tip [Term] id: HP:0000457 name: Depressed nasal ridge def: "Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge." [HPO:probinson, pmid:19152422] comment: The adjective 'depressed' here does not indicate an active process but a status. The feature should be assessed in a profile view. This finding is typically associated with a Short columella, but this should be assessed separately. subset: hposlim_core synonym: "Depressed dorsum of nose" EXACT [ORCID:0000-0001-5889-4463] synonym: "Depressed nasal dorsum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Flat dorsum of nose" EXACT [ORCID:0000-0001-5889-4463] synonym: "Flat nasal dorsum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Flat nose" EXACT layperson [] synonym: "Recessed dorsum of nose" EXACT [ORCID:0000-0001-5889-4463] synonym: "Recessed nasal dorsum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Recessed nasal ridge" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Retruded dorsum of nose" EXACT [ORCID:0000-0001-5889-4463] synonym: "Retruded nasal dorsum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Retruded nasal ridge" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1842876 is_a: HP:0011119 ! Abnormality of the nasal dorsum [Term] id: HP:0000458 name: Anosmia def: "An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell." [HPO:probinson] subset: hposlim_core synonym: "Lost smell" EXACT layperson [] xref: MSH:D000857 xref: SNOMEDCT_US:44169009 xref: UMLS:C0003126 is_a: HP:0004408 ! Abnormality of the sense of smell [Term] id: HP:0000460 name: Narrow nose def: "Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae." [pmid:19152422] comment: Note: a small nose has both decreased height and a decreased width. These should be coded separately. synonym: "Decreased nasal breadth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased nasal width" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Narrow nose" EXACT layperson [] synonym: "Thin nose" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:249322008 xref: UMLS:C0426422 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000463 name: Anteverted nares alt_id: HP:0000427 alt_id: HP:0000435 alt_id: HP:0000441 def: "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip)." [pmid:19152422] comment: The tip of the nose is upturned and is positioned superiorly to the nasal base, allowing the nares to be easily visualized from the front. With maturation and growth of the nasal ridge and tip, the nares usually become more downwardly directed. synonym: "Anteverted nose" EXACT [] synonym: "Anteverted nostrils" EXACT [] synonym: "Nasal tip, upturned" EXACT layperson [] synonym: "Nostrils anteverted" EXACT [] synonym: "Upturned nares" EXACT [ORCID:0000-0001-5889-4463] synonym: "Upturned nasal tip" EXACT layperson [] synonym: "Upturned nasal tips" RELATED [HPO:skoehler] synonym: "Upturned nose" EXACT layperson [] synonym: "Upturned nostrils" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:708670007 xref: UMLS:C1840077 is_a: HP:0000429 ! Abnormality of the nasal alae is_a: HP:0005105 ! Abnormal nasal morphology is_a: HP:0005288 ! Abnormality of the nares [Term] id: HP:0000464 name: Abnormality of the neck def: "An abnormality of the neck." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the neck" EXACT layperson [] synonym: "Anomaly of the neck" EXACT [ORCID:0000-0001-5889-4463] synonym: "Deformity of the neck" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of the neck" NARROW layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:298390003 xref: SNOMEDCT_US:40052002 xref: UMLS:C0266623 xref: UMLS:C0575167 xref: UMLS:C4280628 is_a: HP:0000152 ! Abnormality of head or neck [Term] id: HP:0000465 name: Webbed neck def: "Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline." [HPO:probinson, pmid:24523736] subset: hposlim_core synonym: "Neck webbing" EXACT layperson [] synonym: "Pterygium colli" EXACT [] synonym: "Webbed neck" EXACT layperson [] xref: SNOMEDCT_US:11731003 xref: UMLS:C0221217 is_a: HP:0000464 ! Abnormality of the neck [Term] id: HP:0000466 name: Limited neck range of motion synonym: "Limited cervical range of motion" EXACT [ORCID:0000-0001-5889-4463] synonym: "Limited neck range of motion" EXACT layperson [] xref: UMLS:C1859212 is_a: HP:0005986 ! Limitation of neck motion [Term] id: HP:0000467 name: Neck muscle weakness def: "Decreased strength of the neck musculature." [HPO:probinson] synonym: "Flaccid neck" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Floppy neck" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Neck muscle weakness" EXACT layperson [] xref: UMLS:C0240479 is_a: HP:0001324 ! Muscle weakness is_a: HP:0011006 ! Abnormality of the musculature of the neck [Term] id: HP:0000468 name: Increased adipose tissue around the neck def: "An increased amount of subcutaneous fat tissue around the neck." [HPO:probinson] synonym: "Increased fat around the neck" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025850 is_a: HP:0000464 ! Abnormality of the neck is_a: HP:0009126 ! Increased adipose tissue [Term] id: HP:0000470 name: Short neck alt_id: HP:0005992 alt_id: HP:0200137 def: "Diminished length of the neck." [HPO:probinson] subset: hposlim_core synonym: "Cervical shortening" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased cervical height" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased cervical length" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased length of neck" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Short neck" EXACT layperson [] xref: SNOMEDCT_US:95427009 xref: UMLS:C0521525 is_a: HP:0000464 ! Abnormality of the neck is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0000471 name: Gastrointestinal angiodysplasia def: "Dysplasia affecting the vasculature of the gastrointestinal tract." [HPO:probinson] synonym: "GI angiodysplasia" EXACT HP:0045077 [] xref: UMLS:C0854242 is_a: HP:0004296 ! Abnormality of gastrointestinal vasculature [Term] id: HP:0000472 name: Long neck def: "Increased inferior-superior length of the neck." [HPO:probinson] subset: hposlim_core synonym: "Cervical elongation" EXACT [ORCID:0000-0001-5889-4463] synonym: "Elongated neck" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased cervical length" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased length of neck" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Long neck" EXACT layperson [] xref: UMLS:C1839816 is_a: HP:0000464 ! Abnormality of the neck [Term] id: HP:0000473 name: Torticollis def: "Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head." [HPO:probinson] comment: The word torticollis comes from Latin words meaning twisted neck. Spasmodic torticollis is a focal dystonia that affects the neck and sometimes the shoulders, leading to involuntary contractions of the neck muscles, abnormal movements and postures of the head and neck. The abnormal movements can have both tonic and clonic components and can results in pain and discomfort. Spasmodic torticollis is the most common focal dystonia. synonym: "Cervical dystonia" EXACT [] synonym: "Loxia" EXACT [ORCID:0000-0001-5889-4463] synonym: "Spasmodic torticollis" EXACT [] synonym: "Wry neck" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D014103 xref: SNOMEDCT_US:270476009 xref: SNOMEDCT_US:70070008 xref: SNOMEDCT_US:74333002 xref: UMLS:C0040485 xref: UMLS:C0152116 xref: UMLS:C0949445 is_a: HP:0011006 ! Abnormality of the musculature of the neck is_a: HP:0011442 ! Abnormality of central motor function is_a: HP:0012179 ! Craniofacial dystonia [Term] id: HP:0000474 name: Thickened nuchal skin fold alt_id: HP:0000477 def: "A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. A measurement 6 mm or more is considered significant between 18 and 24 weeks and a measurement of 5 mm or more is considered significant at 16 to 18 weeks (pmid:16100637)." [HPO:probinson, pmid:16100637] comment: A thickened nuchal fold should be distinguished from cystic hygroma, in which the skin in this area has fluid-filled loculations. A thickened nuchal fold should not be confused with nuchal translucency, which is a specific measurement of fluid in the posterior aspect of the neck at 11 to 14 weeks gestation (see practice guidelines at http://www.sogc.org). subset: hposlim_core synonym: "Excess nuchal skin" EXACT [] synonym: "Increased nuchal fold thickness" EXACT [] synonym: "Thickened nuchal skin" EXACT [ORCID:0000-0001-5889-4463] synonym: "Thickened skin folds of neck" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Thickened skin over the neck" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1836940 is_a: HP:0000464 ! Abnormality of the neck is_a: HP:0011425 ! Fetal ultrasound soft marker [Term] id: HP:0000475 name: Broad neck def: "Increased side-to-side width of the neck." [HPO:probinson] subset: hposlim_core synonym: "Broad neck" EXACT layperson [] synonym: "Increased width of neck" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Thick neck" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Wide neck" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1853638 is_a: HP:0000464 ! Abnormality of the neck [Term] id: HP:0000476 name: Cystic hygroma def: "A cystic lymphatic lesion of the neck." [HPO:probinson] comment: Cystic hygroma refers to a cystic lymphatic lesion, that can in principle occur anywhere in the body, but is most commonly seen in the head and neck region. The term 'Cystic hygroma' alone is generally used to refer to cystic hygroma of the neck. synonym: "Cystic hygroma of the neck" EXACT [] xref: MSH:D018191 xref: NCIT:C8965 xref: SNOMEDCT_US:399882002 xref: SNOMEDCT_US:40225001 xref: SNOMEDCT_US:423984004 xref: UMLS:C0206620 is_a: HP:0000464 ! Abnormality of the neck [Term] id: HP:0000478 name: Abnormality of the eye def: "Any abnormality of the eye, including location, spacing, and intraocular abnormalities." [HPO:probinson] subset: hposlim_core synonym: "Abnormal eye" EXACT layperson [HPO:skoehler] synonym: "Abnormality of the eye" EXACT layperson [] synonym: "Eye disease" RELATED layperson [] xref: MSH:D005124 xref: MSH:D005128 xref: SNOMEDCT_US:19416009 xref: SNOMEDCT_US:371405004 xref: SNOMEDCT_US:371409005 xref: UMLS:C0015393 xref: UMLS:C0015397 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000479 name: Abnormal retinal morphology alt_id: HP:0007938 def: "A structural abnormality of the retina." [HPO:probinson] subset: hposlim_core synonym: "Abnormal retina" EXACT [HPO:skoehler] synonym: "Abnormality of the retina" EXACT [] synonym: "Anomaly of the retina" EXACT [] synonym: "Retina issue" EXACT layperson [] synonym: "Retinal disease" RELATED [] xref: MSH:D012164 xref: SNOMEDCT_US:29555009 xref: UMLS:C0035300 xref: UMLS:C0035309 is_a: HP:0001098 ! Abnormal fundus morphology [Term] id: HP:0000480 name: Retinal coloboma alt_id: HP:0007808 def: "A notch or cleft of the retina." [HPO:probinson] subset: hposlim_core synonym: "Hole in the back of the eye" EXACT layperson [ORCID:0000-0002-6548-5200] xref: SNOMEDCT_US:39302008 xref: UMLS:C0240896 is_a: HP:0000479 ! Abnormal retinal morphology is_a: HP:0000589 ! Coloboma [Term] id: HP:0000481 name: Abnormal cornea morphology alt_id: HP:0007771 alt_id: HP:0007972 def: "Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the cornea" EXACT [] synonym: "Corneal abnormalities" EXACT [] synonym: "Corneal abnormality" EXACT [] synonym: "Cornela disease" RELATED [] xref: UMLS:C1855670 xref: UMLS:C4020889 is_a: HP:0004328 ! Abnormal anterior eye segment morphology [Term] id: HP:0000482 name: Microcornea alt_id: HP:0100688 def: "A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood." [HPO:probinson] comment: Note that the cornea's diameter is normally about 9.5-10.0 mm at birth and reaches 10.0-12-5 mm in adulthood. subset: hposlim_core synonym: "Cornea of eye less than 10mm in diameter" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Decreased corneal diameter" EXACT [] xref: SNOMEDCT_US:26098002 xref: UMLS:C0266544 xref: UMLS:C1167713 is_a: HP:0001120 ! Abnormality of corneal size [Term] id: HP:0000483 name: Astigmatism def: "A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea." [DDD:ncarter, HPO:probinson, ORCID:0000-0003-0986-4123] comment: The irregular curvature associated with astigmatism means that the optical system is not symmetric about the optical axis. Most commonly the cornea is affected such that the refractive power in one meridian is less than that of the perpendicular axis. Astigmatism of significant degree causes blurry vision. subset: hposlim_core synonym: "Abnormal curving of the cornea or lens of the eye" EXACT layperson [orcid.org/0000-0002-6548-5200] xref: MSH:D001251 xref: SNOMEDCT_US:82649003 xref: UMLS:C0004106 is_a: HP:0000539 ! Abnormality of refraction is_a: HP:0100691 ! Abnormality of the curvature of the cornea [Term] id: HP:0000484 name: Hyperopic astigmatism def: "A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error." [HPO:probinson] xref: SNOMEDCT_US:449734001 xref: UMLS:C1847524 is_a: HP:0000483 ! Astigmatism [Term] id: HP:0000485 name: Megalocornea alt_id: HP:0007660 def: "An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age." [HPO:curators] subset: hposlim_core synonym: "Anterior megalophthalmos" EXACT [] synonym: "Enlarged cornea" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased corneal diameter" EXACT [] synonym: "Macrocornea" EXACT [] xref: MSH:C562829 xref: SNOMEDCT_US:204118005 xref: SNOMEDCT_US:268158009 xref: UMLS:C0344530 xref: UMLS:C1167712 is_a: HP:0001120 ! Abnormality of corneal size [Term] id: HP:0000486 name: Strabismus alt_id: HP:0000487 def: "A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error." [HPO:probinson, PMID:26319345, UManchester:psergouniotis] subset: hposlim_core synonym: "Cross-eyed" EXACT layperson [] synonym: "Squint" EXACT layperson [] synonym: "Squint eyes" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] xref: MSH:D013285 xref: SNOMEDCT_US:128602000 xref: SNOMEDCT_US:22066006 xref: UMLS:C0038379 is_a: HP:0000549 ! Abnormal conjugate eye movement [Term] id: HP:0000487 name: obsolete Congenital strabismus is_obsolete: true replaced_by: HP:0000486 [Term] id: HP:0000488 name: Retinopathy def: "Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality." [HPO:probinson] subset: hposlim_core synonym: "Noninflammatory retina disease" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D012164 xref: SNOMEDCT_US:29555009 xref: UMLS:C0035309 is_a: HP:0000479 ! Abnormal retinal morphology [Term] id: HP:0000489 name: obsolete Abnormality of globe location or size is_obsolete: true consider: HP:0100886 consider: HP:0100887 [Term] id: HP:0000490 name: Deeply set eye alt_id: HP:0000663 def: "An eye that is more deeply recessed into the plane of the face than is typical." [pmid:19125427] comment: This finding should be distinguished from a prominent supraorbital ridge or inferior orbital margin. In Deeply set eyes, the globe is recessed in comparison to the overall prominence of the face. There is no known objective measurement, and diagnosing this feature depends heavily on the experience of the observer. subset: hposlim_core synonym: "Deep set eye" EXACT layperson [] synonym: "Deep-set eyes" EXACT layperson [] synonym: "Deeply set eye" EXACT layperson [] synonym: "Enophthalmos" EXACT [] synonym: "Ocular depression" EXACT [] synonym: "Sunken eye" EXACT layperson [] synonym: "Sunken eyes" EXACT [] xref: MSH:D015841 xref: SNOMEDCT_US:246923005 xref: SNOMEDCT_US:80093006 xref: UMLS:C0014306 xref: UMLS:C0423224 is_a: HP:0100886 ! Abnormality of globe location [Term] id: HP:0000491 name: Keratitis def: "Inflammation of the cornea." [HPO:curators] subset: hposlim_core synonym: "Corneal inflammation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D007634 xref: SNOMEDCT_US:5888003 xref: UMLS:C0022568 is_a: HP:0011495 ! Abnormal corneal epithelium morphology is_a: HP:0100533 ! Inflammatory abnormality of the eye [Term] id: HP:0000492 name: Abnormal eyelid morphology alt_id: HP:0000285 def: "An abnormality of the eyelids." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the eyelid" EXACT layperson [] synonym: "Abnormality of the eyelids" EXACT layperson [] xref: UMLS:C4021803 is_a: HP:0030669 ! Abnormal ocular adnexa morphology [Term] id: HP:0000493 name: Abnormal foveal morphology def: "An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina." [HPO:probinson] synonym: "Abnormality of the fovea" EXACT [] xref: UMLS:C4025849 is_a: HP:0001103 ! Abnormal macular morphology created_by: peter creation_date: 2008-04-02T01:29:00Z [Term] id: HP:0000494 name: Downslanted palpebral fissures alt_id: HP:0007714 alt_id: HP:0007908 def: "The palpebral fissure inclination is more than two standard deviations below the mean." [pmid:19125427] subset: hposlim_core synonym: "Antimongoloid eye slant" EXACT [] synonym: "Antimongoloid slant of palpebral fissures" EXACT [] synonym: "Antimongoloid slanted palpebral fissures" EXACT [] synonym: "Down slanting palpebral fissures" EXACT [] synonym: "Down-slanted palpebral fissures" EXACT [] synonym: "Down-slanting palpebral fissure" EXACT [] synonym: "Down-slanting palpebral fissures" EXACT [] synonym: "Downslanting palpebral fissure" EXACT [] synonym: "Downslanting palpebral fissures" EXACT [HPO:skoehler] synonym: "Downward slanted palpebral fissures" EXACT [] synonym: "Downward slanting of the opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Downward slanting palpebral fissures" EXACT [HPO:skoehler] synonym: "Downward-slanting palpebral fissures" EXACT [] synonym: "Palpebral fissures down-slanted" EXACT [] xref: SNOMEDCT_US:246800008 xref: UMLS:C0423110 is_a: HP:0200006 ! Slanting of the palpebral fissure [Term] id: HP:0000495 name: Recurrent corneal erosions alt_id: HP:0007674 alt_id: HP:0007749 def: "The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations." [HPO:curators] synonym: "Corneal erosions, recurrent" EXACT [] synonym: "Corneal ulcerations" EXACT [] synonym: "Epithelial corneal erosions" RELATED [] synonym: "Recurrent breakdown of clear protective layer of eye" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Recurrent corneal ulceration" EXACT [] synonym: "Recurrent corneal ulcerations" RELATED [HPO:skoehler] xref: MSH:D003320 xref: SNOMEDCT_US:2055003 xref: SNOMEDCT_US:91514001 xref: UMLS:C0010043 xref: UMLS:C0155119 xref: UMLS:C4020888 is_a: HP:0200020 ! Corneal erosion [Term] id: HP:0000496 name: Abnormality of eye movement alt_id: HP:0006860 def: "An abnormality in voluntary or involuntary eye movements or their control." [HPO:probinson] subset: hposlim_core synonym: "Abnormal extraocular movement" EXACT [] synonym: "Abnormal extraocular movements" EXACT [] synonym: "Abnormal eye motility" EXACT [] synonym: "Abnormal eye movement" EXACT layperson [] synonym: "Abnormal eye movements" EXACT layperson [] synonym: "Abnormal motility of the globe of the eye" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Abnormal movement of the globe of the eye" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Abnormal ocular movements" EXACT [] synonym: "Abnormality of eye movement" EXACT layperson [] synonym: "Eye movement abnormalities" EXACT layperson [] synonym: "Eye movement issue" EXACT layperson [] synonym: "Ocular movement abnormalities" EXACT [] synonym: "Oculomotor abnormalities" EXACT [] xref: SNOMEDCT_US:103252009 xref: UMLS:C0497202 is_a: HP:0012373 ! Abnormal eye physiology [Term] id: HP:0000497 name: Globe retraction and deviation on abduction xref: UMLS:C4025848 is_a: HP:0011347 ! Abnormality of ocular abduction [Term] id: HP:0000498 name: Blepharitis def: "Inflammation of the eyelids." [HPO:probinson] subset: hposlim_core synonym: "Cellulitis of eyelids" EXACT [ORCID:0000-0001-5889-4463] synonym: "Inflammation of eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D001762 xref: SNOMEDCT_US:231796003 xref: SNOMEDCT_US:41446000 xref: UMLS:C0005741 xref: UMLS:C0339063 is_a: HP:0000492 ! Abnormal eyelid morphology is_a: HP:0100533 ! Inflammatory abnormality of the eye [Term] id: HP:0000499 name: Abnormal eyelash morphology alt_id: HP:0004530 def: "An abnormality of the eyelashes." [HPO:probinson] subset: hposlim_core synonym: "Abnormal eyelashes" EXACT layperson [HPO:skoehler] synonym: "Abnormality of the eyelashes" EXACT layperson [] synonym: "Eyelash abnormality" EXACT layperson [] xref: UMLS:C2675111 is_a: HP:0000492 ! Abnormal eyelid morphology is_a: HP:0001595 ! Abnormal hair morphology [Term] id: HP:0000501 name: Glaucoma def: "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:probinson, pmid:11815354] comment: The feature that differentiates glaucoma from other causes of visual morbidity is a characteristic pattern of damage to the optic nerve head. This is most easily recognised at the superior and inferior poles of the optic disc. The vertical cup:disc ratio (VCDR) has proved to be a simple, relatively robust index of glaucomatous loss of the neuroretinal rim. As with intraocular pressure, VCDR is a continuous variable within the population. subset: hposlim_core xref: MSH:D005901 xref: SNOMEDCT_US:23986001 xref: UMLS:C0017601 is_a: HP:0012373 ! Abnormal eye physiology [Term] id: HP:0000502 name: Abnormal conjunctiva morphology def: "An abnormality of the conjunctiva." [HPO:curators] comment: The conjunctiva is a thin, sparsely vascularized transparent membrane that covers and protects the sclera (the bulbar conjunctiva), and forms the inner lining of the eyelids (the tarsal conjunctiva). subset: hposlim_core xref: UMLS:C4025847 is_a: HP:0030669 ! Abnormal ocular adnexa morphology [Term] id: HP:0000503 name: Tortuosity of conjunctival vessels def: "The presence of an increased number of twists and turns of the conjunctival blood vessels." [HPO:probinson] xref: UMLS:C1855391 is_a: HP:0008054 ! Abnormal morphology of the conjunctival vasculature [Term] id: HP:0000504 name: Abnormality of vision def: "Abnormality of eyesight (visual perception)." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of sight" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Abnormality of vision" EXACT layperson [] synonym: "Vision issue" EXACT layperson [] xref: UMLS:C4025846 is_a: HP:0012373 ! Abnormal eye physiology [Term] id: HP:0000505 name: Visual impairment alt_id: HP:0000516 alt_id: HP:0000566 alt_id: HP:0007758 alt_id: HP:0007860 alt_id: HP:0007983 def: "Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery." [DDD:gblack] subset: hposlim_core synonym: "Impaired vision" EXACT layperson [] synonym: "Loss of eyesight" EXACT layperson [] synonym: "Poor vision" EXACT layperson [] synonym: "Visual impairment" EXACT layperson [] xref: MSH:D014786 xref: MSH:D015354 xref: SNOMEDCT_US:246635007 xref: SNOMEDCT_US:397540003 xref: SNOMEDCT_US:7973008 xref: UMLS:C0042798 xref: UMLS:C3665347 is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0000506 name: Telecanthus def: "Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi." [HPO:probinson] comment: Dystopia canthorum (also called telecanthus) describes a subtle but unusual facial feature in which the inner corners of the eyes (canthi) are spaced farther apart than normal, yet the eyes (pupils) themselves are not necessarily widely spaced. subset: hposlim_core synonym: "Corners of eye widely separated" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Dystopia canthorum" EXACT [] synonym: "Increased distance between medial canthi" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased intercanthal distance" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:C562941 xref: SNOMEDCT_US:246803005 xref: UMLS:C0423113 is_a: HP:0000492 ! Abnormal eyelid morphology [Term] id: HP:0000508 name: Ptosis def: "The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective)." [pmid:19125427] subset: hposlim_core synonym: "Blepharoptosis" EXACT [] synonym: "Drooping upper eyelid" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Eye drop" RELATED layperson [] synonym: "Eyelid ptosis" EXACT [HPO:skoehler] xref: MSH:D001763 xref: SNOMEDCT_US:11934000 xref: UMLS:C0005745 is_a: HP:0012373 ! Abnormal eye physiology [Term] id: HP:0000509 name: Conjunctivitis def: "Inflammation of the conjunctiva." [HPO:probinson] subset: hposlim_core synonym: "Conjunctivitis, recurrent" RELATED [HPO:skoehler] synonym: "Pink eye" EXACT layperson [orcid.org/0000-0002-6548-5200] xref: MSH:D003231 xref: SNOMEDCT_US:9826008 xref: UMLS:C0009763 xref: UMLS:C1864156 is_a: HP:0000502 ! Abnormal conjunctiva morphology is_a: HP:0025337 ! Red eye is_a: HP:0100533 ! Inflammatory abnormality of the eye [Term] id: HP:0000510 name: Rod-cone dystrophy alt_id: HP:0000547 alt_id: HP:0001127 alt_id: HP:0007635 alt_id: HP:0007645 alt_id: HP:0007742 alt_id: HP:0007816 alt_id: HP:0007826 alt_id: HP:0007927 alt_id: HP:0008036 def: "An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones." [HPO:probinson, pmid:20212494] comment: Retinitis pigmentosa is a group of hereditary diseases of the eye. However, the term retinitis pigmentosa has also been used to describe the retinal findings characteristic of these diseases but also seen on other diseases such as Usher syndrome. It is preferable to describe the findings precisely if possible, but this term is kept for convenience. subset: hposlim_core synonym: "Retinitis pigmentosa" EXACT [] synonym: "Rod cone dystrophy" EXACT [] xref: MSH:D012174 xref: SNOMEDCT_US:28835009 xref: UMLS:C0035334 is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0000511 name: Vertical supranuclear gaze palsy def: "A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal." [HPO:probinson, pmid:20671861] comment: Vertical gaze palsies can manifest as selective limitation of upgaze or downgaze. synonym: "Vertical gaze palsy" EXACT [] xref: SNOMEDCT_US:246773002 xref: UMLS:C0339652 xref: UMLS:C1843369 is_a: HP:0000605 ! Supranuclear gaze palsy [Term] id: HP:0000512 name: Abnormal electroretinogram alt_id: HP:0003285 def: "Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography." [HPO:probinson] comment: The electrical responses of the photoreceptors (rods and cones), inner retinal cells (bipolar and amacrine cells), and the ganglion cells can be assessed by ERG. subset: hposlim_core synonym: "Abnormal electroretinography" EXACT [] synonym: "Abnormal ERG" EXACT [] synonym: "ERG abnormal" EXACT [] xref: SNOMEDCT_US:274524001 xref: UMLS:C0476397 is_a: HP:0030453 ! Abnormal visual electrophysiology [Term] id: HP:0000514 name: Slow saccadic eye movements def: "An abnormally slow velocity of the saccadic eye movements." [HPO:probinson] comment: Saccades are rapid eye movements that align the fovea with the target. subset: hposlim_core synonym: "Slow eye movements" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Slow saccades" EXACT [] synonym: "Slow visual tracking" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:404686001 xref: UMLS:C1321329 is_a: HP:0000570 ! Abnormal saccadic eye movements [Term] id: HP:0000517 name: Abnormality of the lens def: "An abnormality of the lens." [HPO:probinson] synonym: "Abnormality of the lens" EXACT layperson [] synonym: "Lens disease" RELATED layperson [] synonym: "Lens issue" EXACT layperson [] xref: MSH:D007905 xref: SNOMEDCT_US:10810001 xref: UMLS:C0023308 xref: UMLS:C0549651 is_a: HP:0004328 ! Abnormal anterior eye segment morphology [Term] id: HP:0000518 name: Cataract alt_id: HP:0001113 alt_id: HP:0007825 alt_id: HP:0010700 def: "A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule." [HPO:probinson] comment: Note that some ophthalmologists call any opacity in the lens a cataract, while others restrict the term to lens opacities that impair vision. We use the term to refer to the first meaning (any lens opacity). subset: hposlim_core synonym: "Cataracts" EXACT [] synonym: "Clouding of the lens of the eye" EXACT layperson [orcid.org/0000-0002-6548-5200] synonym: "Cloudy lens" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Lens opacities" EXACT [] synonym: "Lens opacity" EXACT [] xref: Fyler:4865 xref: MSH:D002386 xref: SNOMEDCT_US:128306009 xref: SNOMEDCT_US:193570009 xref: SNOMEDCT_US:247053007 xref: UMLS:C0086543 xref: UMLS:C1510497 is_a: HP:0000517 ! Abnormality of the lens [Term] id: HP:0000519 name: Developmental cataract alt_id: HP:0001108 alt_id: HP:0007679 alt_id: HP:0007692 alt_id: HP:0007726 alt_id: HP:0007788 def: "A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens." [HPO:probinson] comment: In general, congenital cataracts are bilateral and that is the assumption with the terms in this cataract subhierarchy. subset: hposlim_core synonym: "Bilateral congenital cataracts" EXACT [] synonym: "Cataract, congenital" EXACT [] synonym: "Clouding of the lens of the eye at birth" EXACT layperson [orcid.org/0000-0002-6548-5200] synonym: "Congenital cataract" EXACT [] synonym: "Congenital cataracts" EXACT [] synonym: "Congenital cataracts, bilateral" EXACT [] xref: SNOMEDCT_US:609587005 xref: SNOMEDCT_US:79410001 xref: UMLS:C0009691 xref: UMLS:C3277059 is_a: HP:0000518 ! Cataract is_a: HP:0007700 ! Ocular anterior segment dysgenesis [Term] id: HP:0000520 name: Proptosis alt_id: HP:0000536 alt_id: HP:0000644 alt_id: HP:0000645 alt_id: HP:0007711 alt_id: HP:0007870 def: "An eye that is protruding anterior to the plane of the face to a greater extent than is typical." [HPO:sdoelken, pmid:19125427] comment: Some sources define "exophthalmos" as a protrusion of the globe greater than 18 mm and "proptosis" as a protusion equal to or less than 18 mm. Others define "exophthalmos" as protusion secondary to endocrine dysfunction and "proptosis" as any non-endocrine-mediated protusion (Source: Wikipedia). This finding should be distinguished frm underdevelopment of the supraorbital ridge or maxilla/zygoma. In proptosis, the globe is anteriorly protuberant to the overall plane of the face. subset: hposlim_core synonym: "Anterior bulging of the globe" EXACT [] synonym: "Anterior bulging of the globe of eye" EXACT [] synonym: "Bulging eye" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Exophthalmos" EXACT [] synonym: "Eyeballs bulging out" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Ocular proptosis" EXACT [] synonym: "Prominent eyes" EXACT layperson [] synonym: "Prominent globes" EXACT layperson [] synonym: "Protruding eyes" EXACT layperson [] synonym: "Protrusio bulbi" EXACT [] xref: MSH:D005094 xref: SNOMEDCT_US:18265008 xref: UMLS:C0015300 xref: UMLS:C1837760 xref: UMLS:C1848490 xref: UMLS:C1862425 is_a: HP:0100886 ! Abnormality of globe location [Term] id: HP:0000522 name: Alacrima def: "Absence of tear secretion." [HPO:probinson] comment: Alacrima is generally a congenital deficiency. subset: hposlim_core synonym: "Absence of tears in the eyes" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Absent lacrimal fluids" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Absent tear secretion" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:C562827 xref: SNOMEDCT_US:253215004 xref: UMLS:C0344505 is_a: HP:0000633 ! Decreased lacrimation [Term] id: HP:0000523 name: Subcapsular cataract alt_id: HP:0001490 alt_id: HP:0007978 def: "A cataract that affects the region of the lens directly beneath the capsule of the lens." [HPO:probinson] synonym: "Subcapsular cataracts" EXACT [] synonym: "Subcapsular lenticular cataracts" EXACT [] synonym: "Subcapsular opacities" EXACT [] xref: SNOMEDCT_US:95723009 xref: UMLS:C0235259 is_a: HP:0000518 ! Cataract [Term] id: HP:0000524 name: Conjunctival telangiectasia def: "The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva." [HPO:probinson] subset: hposlim_core synonym: "Conjunctival telangiectases" EXACT [] synonym: "Small dilated blood vessels near membrane covering front of eye and eyelids" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Telangiectasia, conjunctival" EXACT [] xref: SNOMEDCT_US:231870008 xref: UMLS:C0239105 is_a: HP:0008054 ! Abnormal morphology of the conjunctival vasculature is_a: HP:0100579 ! Mucosal telangiectasiae [Term] id: HP:0000525 name: Abnormality iris morphology def: "An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the iris" EXACT layperson [] xref: UMLS:C4025845 is_a: HP:0000553 ! Abnormal uvea morphology is_a: HP:0004328 ! Abnormal anterior eye segment morphology [Term] id: HP:0000526 name: Aniridia alt_id: HP:0011498 def: "Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris." [HPO:probinson, PMID:24138039, PMID:25313118, PMID:29850208, UManchester:psergouniotis] subset: hposlim_core synonym: "Absent iris" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D015783 xref: SNOMEDCT_US:69278003 xref: UMLS:C0003076 is_a: HP:0008053 ! Aplasia/Hypoplasia of the iris [Term] id: HP:0000527 name: Long eyelashes alt_id: HP:0000500 def: "Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective)." [pmid:19125427, PMID:26288407] comment: Measurement should be done on the longest lashes, which are usually at the center of the lid. Normal values are 7.99 - 1.05 mm in boys and 7.76 - 1.03 mm in girls. Note that Eyelash trichomegaly is defined as increase in length (12 mm or more), curling, pigmentation or thickness of eyelashes. subset: hposlim_core synonym: "Ciliary trichomegaly" EXACT [] synonym: "Eyelash trichomegaly" EXACT [] synonym: "Increased length of eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Long eyelashes" EXACT layperson [] synonym: "Unusually long eyelashes" EXACT layperson [] xref: UMLS:C1853738 is_a: HP:0000499 ! Abnormal eyelash morphology [Term] id: HP:0000528 name: Anophthalmia alt_id: HP:0001485 alt_id: HP:0007664 def: "Absence of the globe or eyeball." [DDD:ncarter] subset: hposlim_core synonym: "Absence of eyeballs" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Absence of globes of eyes" EXACT [ORCID:0000-0001-5889-4463] synonym: "Anophthalmia, clinical" EXACT [] synonym: "Clinical anophthalmia, unilateral/bilateral" EXACT [] synonym: "Failure of development of eyeball" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Missing eyeball" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Missing globe of eye" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "No eyeball" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "No globe of eye" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Ocular absence" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] xref: Fyler:4864 xref: MSH:D000853 xref: SNOMEDCT_US:204099004 xref: SNOMEDCT_US:7183006 xref: UMLS:C0003119 is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye is_a: HP:0100887 ! Abnormality of globe size [Term] id: HP:0000529 name: Progressive visual loss alt_id: HP:0000560 alt_id: HP:0007735 alt_id: HP:0007753 alt_id: HP:0007967 def: "A reduction of previously attained ability to see." [HPO:probinson] subset: hposlim_core synonym: "Decreased visual acuity, progressive" RELATED [HPO:skoehler] synonym: "Loss of visual acuity" EXACT [] synonym: "Progressive loss of vision" EXACT layperson [] synonym: "Progressive vision loss" EXACT layperson [] synonym: "Progressive visual acuity loss" EXACT [] synonym: "Progressive visual impairment" EXACT layperson [] synonym: "Slowly progressive visual loss" EXACT layperson [] synonym: "Vision loss, progressive" EXACT layperson [HPO:skoehler] synonym: "Visual loss, progressive" EXACT layperson [] xref: UMLS:C1839364 xref: UMLS:C3277697 is_a: HP:0000572 ! Visual loss [Term] id: HP:0000531 name: Corneal crystals synonym: "Corneal deposits" EXACT [] xref: UMLS:C1096610 is_a: HP:0007759 ! Opacification of the corneal stroma [Term] id: HP:0000532 name: Abnormal chorioretinal morphology alt_id: HP:0001145 alt_id: HP:0007888 def: "An abnormality of the choroid and retina." [HPO:probinson] comment: The choroid is the vascular layer of the eye, located between the retina and the sclera. synonym: "Chorioretinal abnormality" EXACT [] xref: UMLS:C4025844 is_a: HP:0000479 ! Abnormal retinal morphology is_a: HP:0000610 ! Abnormal choroid morphology [Term] id: HP:0000533 name: Chorioretinal atrophy alt_id: HP:0001150 alt_id: HP:0007884 alt_id: HP:0007918 alt_id: HP:0007931 def: "Atrophy of the choroid and retinal layers of the fundus." [HPO:probinson, pmid:20224472] comment: Choroidal sclerosis is a descriptive term applied to the ophthalmoscopic appearance of prominent white choroidal vessels in which the blood columns are not seen or are sheathed by white lines. Choroidal sclerosis is a term used to describe a group of genetically heterogeneous retinal dystrophies that share a common funduscopic phenotype of scalloped, well-circumscribed, and confluent chorioretinal atrophic lesions that extend beyond the macula. The term choroidal sclerosis was initially coined because of the sclerotic appearance of choroidal vessels which frequently appear white or light-yellow. However, histologic studies have demonstrated the term to be a misnomer as the principle abnormality is the loss of choriocapillaris, retinal pigment epithelium (RPE), and the outer retina in the absence of abnormal sclerotic changes in the choroidal vasculature. Therefore, we are making choroidal sclerosis a synonym of chorioretinal atrophy. synonym: "Chorioretinal thinning" EXACT [] xref: SNOMEDCT_US:95686007 xref: UMLS:C4048273 is_a: HP:0200065 ! Chorioretinal degeneration [Term] id: HP:0000534 name: Abnormal eyebrow morphology def: "An abnormality of the eyebrow." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the eyebrow" EXACT layperson [] xref: UMLS:C4011556 is_a: HP:0001595 ! Abnormal hair morphology is_a: HP:0030669 ! Abnormal ocular adnexa morphology [Term] id: HP:0000535 name: Sparse and thin eyebrow alt_id: HP:0002222 alt_id: HP:0002554 alt_id: HP:0004520 alt_id: HP:0004551 def: "Decreased density/number and/or decreased diameter of eyebrow hairs." [pmid:19125427] comment: Sparseness can be regional (medial, central, lateral) or total. These modifiers should be incorporated into the term, when appropriate. subset: hposlim_core synonym: "Sparse and thin eyebrow" EXACT layperson [] synonym: "Thin, sparse eyebrows" EXACT layperson [] xref: UMLS:C1832446 is_a: HP:0045074 ! Thin eyebrow is_a: HP:0045075 ! Sparse eyebrow [Term] id: HP:0000537 name: Epicanthus inversus def: "A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus." [pmid:19125427] subset: hposlim_core xref: SNOMEDCT_US:400956000 xref: UMLS:C1303003 is_a: HP:0000286 ! Epicanthus [Term] id: HP:0000538 name: Pseudopapilledema def: "Apparent optic disc swelling in the absence of increased intracranial pressure." [HPO:probinson] comment: Papilledema is disc edema secondary to increased intracranial pressure. subset: hposlim_core xref: MSH:C562401 xref: SNOMEDCT_US:57138009 xref: UMLS:C0155300 is_a: HP:0012795 ! Abnormality of the optic disc [Term] id: HP:0000539 name: Abnormality of refraction def: "An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina." [HPO:probinson] xref: UMLS:C4025843 is_a: HP:0012373 ! Abnormal eye physiology [Term] id: HP:0000540 name: Hypermetropia def: "An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry." [HPO:probinson] comment: The American Optometric Association subdivides hypermetropia into (i) low (up to +2D), moderate (2 to 5D), and high (over 5D). subset: hposlim_core synonym: "Farsightedness" EXACT layperson [] synonym: "Hyperopia" EXACT [] synonym: "Long-sightedness" EXACT layperson [] xref: MSH:D006956 xref: SNOMEDCT_US:38101003 xref: UMLS:C0020490 is_a: HP:0000539 ! Abnormality of refraction [Term] id: HP:0000541 name: Retinal detachment alt_id: HP:0007864 alt_id: HP:0008021 def: "Separation of the inner layers of the retina (neural retina) from the pigment epithelium." [HPO:probinson] subset: hposlim_core synonym: "Detached retina" EXACT layperson [] synonym: "Retinal detachment" EXACT layperson [] xref: MSH:D012163 xref: SNOMEDCT_US:42059000 xref: UMLS:C0035305 is_a: HP:0000479 ! Abnormal retinal morphology [Term] id: HP:0000542 name: Impaired ocular adduction def: "Reduced ability to move the eye in the direction of the nose." [HPO:probinson] comment: Contraction of the medial rectus pulls the eye towards the nose (adduction or medial movement). xref: UMLS:C1846463 is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000543 name: Optic disc pallor alt_id: HP:0001148 alt_id: HP:0001484 def: "A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression." [HPO:probinson] comment: Optic disc pallor can be judged clinically with serial color photographs or by comparison to the other eye. The pallor reflects replacement of dead axons by glial tissue. The loss of the small capillaries within the nerve accounts for the shift from orange-pink to white. subset: hposlim_core synonym: "Disc pallor" RELATED [HPO:skoehler] synonym: "Optic disk pallor" RELATED [HPO:skoehler] synonym: "Pale optic disc" EXACT [] synonym: "Pale optic discs" RELATED [HPO:skoehler] synonym: "Pale optic disk" EXACT [] xref: SNOMEDCT_US:302200001 xref: UMLS:C0554970 is_a: HP:0012795 ! Abnormality of the optic disc [Term] id: HP:0000544 name: External ophthalmoplegia alt_id: HP:0007762 def: "Paralysis of the external ocular muscles." [HPO:probinson] synonym: "Chronic progressive external ophthalmoplegia" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "CPEO" EXACT HP:0045077 [HPO:skoehler, ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Ophthalmoplegia externa" EXACT [] synonym: "Paralysis or weakness of muscles within or surrounding outer part of eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Progressive paralysis or weakness of muscles of eye motility" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Progressive paralysis or weakness of muscles of eye movement" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] xref: MSH:D009886 xref: MSH:D017246 xref: SNOMEDCT_US:19373007 xref: SNOMEDCT_US:46252003 xref: UMLS:C0162292 xref: UMLS:C0162674 is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0000545 name: Myopia alt_id: HP:0001110 alt_id: HP:0007847 alt_id: HP:0008012 def: "An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry." [HPO:probinson] subset: hposlim_core synonym: "Close sighted" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Near sighted" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Near sightedness" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Nearsightedness" EXACT layperson [] xref: MSH:D009216 xref: SNOMEDCT_US:57190000 xref: UMLS:C0027092 is_a: HP:0000539 ! Abnormality of refraction [Term] id: HP:0000546 name: Retinal degeneration alt_id: HP:0007632 alt_id: HP:0007790 alt_id: HP:0007863 alt_id: HP:0007893 def: "A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells." [HPO:probinson, ORCID:0000-0003-0986-4123] subset: hposlim_core synonym: "Retina degeneration" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D012162 xref: SNOMEDCT_US:95695004 xref: UMLS:C0035304 is_a: HP:0000479 ! Abnormal retinal morphology [Term] id: HP:0000547 name: obsolete Tapetoretinal degeneration synonym: "Retinotapetal degeneration" EXACT [] is_obsolete: true replaced_by: HP:0000510 [Term] id: HP:0000548 name: Cone/cone-rod dystrophy alt_id: HP:0008157 synonym: "Cone rod dystrophy" EXACT [] synonym: "Cone-rod retinal dystrophy" EXACT [] xref: MSH:D012174 xref: SNOMEDCT_US:28835009 xref: SNOMEDCT_US:312917007 xref: UMLS:C0035334 xref: UMLS:C0730290 xref: UMLS:C4072827 is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0000549 name: Abnormal conjugate eye movement def: "Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object." [HPO:probinson] synonym: "Disconjugate eye movements" EXACT [] xref: UMLS:C1845274 is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000550 name: Undetectable electroretinogram alt_id: HP:0008042 def: "Lack of any response to stimulation upon electroretinography." [HPO:probinson] synonym: "Abolished electroretinogram" EXACT [] synonym: "Absent electroretinogram" EXACT [] synonym: "Extinction of electroretinogram" EXACT [] synonym: "Extinguished electroretinogram" EXACT [] synonym: "No light-evoked response on electroretinogram" EXACT [] synonym: "Undetectable ERG" EXACT [] xref: UMLS:C1855685 is_a: HP:0000512 ! Abnormal electroretinogram [Term] id: HP:0000551 name: Color vision defect def: "An anomaly in the ability to discriminate between or recognize colors." [HPO:probinson] synonym: "Abnormal color vision" EXACT layperson [] synonym: "Abnormality of color vision" EXACT layperson [] synonym: "Abnormality of colour vision" EXACT [] synonym: "Color vision defect, severe" RELATED layperson [HPO:skoehler] synonym: "Color vision defects" RELATED layperson [HPO:skoehler] synonym: "Colour vision defect" RELATED layperson [] synonym: "Loss in color vision" RELATED [] xref: MSH:D003117 xref: SNOMEDCT_US:23289000 xref: SNOMEDCT_US:367469000 xref: UMLS:C0009398 xref: UMLS:C0234629 xref: UMLS:C3552853 is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0000552 name: Tritanomaly def: "Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment." [HPO:probinson] synonym: "Blue yellow color blindness" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Blue-yellow dyschromatopsia" EXACT [] synonym: "Blue/yellow color vision defect" RELATED [HPO:skoehler] synonym: "Dyschromatopsia, blue-yellow" EXACT [] xref: MSH:D003117 xref: SNOMEDCT_US:51886007 xref: SNOMEDCT_US:85049009 xref: UMLS:C0155017 xref: UMLS:C1970167 is_a: HP:0011519 ! Anomalous trichromacy [Term] id: HP:0000553 name: Abnormal uvea morphology def: "An abnormality of the uvea, the vascular layer of the eyeball." [HPO:probinson] synonym: "Abnormality of the uvea" EXACT [] xref: UMLS:C4025842 is_a: HP:0012372 ! Abnormal eye morphology [Term] id: HP:0000554 name: Uveitis def: "Inflammation of one or all portions of the uveal tract." [HPO:curators] comment: The uvea is the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid. subset: hposlim_core xref: MSH:D014605 xref: SNOMEDCT_US:128473001 xref: UMLS:C0042164 is_a: HP:0000553 ! Abnormal uvea morphology is_a: HP:0100533 ! Inflammatory abnormality of the eye [Term] id: HP:0000555 name: Leukocoria def: "An abnormal white reflection from the pupil rather than the usual black reflection." [HPO:probinson] comment: The word leukocoria literally means white pupil, but leukocoria is not an abnormality of the pupil. Rather, leukocoria can be caused by cataract, retinal detachment, retinopathy of prematurity, retinal malformation, endophthalmitis, retinal vascular abnormality, and intraocular tumor (e.g., retinoblastoma). synonym: "Leukokoria" EXACT [ORCID:0000-0001-6908-9849] synonym: "White pupillary reflex" EXACT [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:1361009 xref: UMLS:C0152458 is_a: HP:0000615 ! Abnormal pupil morphology [Term] id: HP:0000556 name: Retinal dystrophy alt_id: HP:0007736 alt_id: HP:0007910 alt_id: HP:0007974 alt_id: HP:0007982 def: "Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event." [ORCID:0000-0003-0986-4123] synonym: "Breakdown of light-sensitive cells in back of eye" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:D058499 xref: SNOMEDCT_US:314407005 xref: UMLS:C0854723 is_a: HP:0000479 ! Abnormal retinal morphology [Term] id: HP:0000557 name: Buphthalmos def: "Diffusely large eye (with megalocornea) associated with glaucoma." [] comment: Buphthalmos refers to a congenital open-angle glaucoma of the eye. The term buphthalmos (from Greek 'bous' or ox and 'ophthalmos' or eye) is descriptive of an enlarged eyeglobe resulting from increased intraocular pressure. The eyeglobe is especially prone to distension in newborns and infants because its collagen filaments are not as rigid as in adults and may easily be stretched. subset: hposlim_core synonym: "Enlarged eyeball" EXACT layperson [https://en.wikipedia.org/wiki/buphthalmos, ORCID:0000-0001-5208-3432] xref: MSH:D006871 xref: SNOMEDCT_US:204113001 xref: SNOMEDCT_US:246920008 xref: SNOMEDCT_US:413728006 xref: UMLS:C0020302 xref: UMLS:C0423221 is_a: HP:0001087 ! Developmental glaucoma is_a: HP:0001090 ! Abnormally large globe [Term] id: HP:0000558 name: Rieger anomaly def: "A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities." [HPO:probinson] comment: Hypoplasia (underdevelopment) of the iris as well as iris strands to the peripheral cornea. xref: MSH:C535679 xref: SNOMEDCT_US:47507006 xref: UMLS:C0265341 is_a: HP:0007676 ! Hypoplasia of the iris [Term] id: HP:0000559 name: Corneal scarring xref: MSH:D065306 xref: SNOMEDCT_US:95726001 xref: UMLS:C0349702 is_a: HP:0007957 ! Corneal opacity is_a: HP:0100699 ! Scarring [Term] id: HP:0000561 name: Absent eyelashes alt_id: HP:0002288 alt_id: HP:0004516 alt_id: HP:0004539 alt_id: HP:0007926 def: "Lack of eyelashes." [HPO:curators, pmid:19125427] comment: Often this finding is congenital and associated with alopecia universalis, but this should be coded separately. subset: hposlim_core synonym: "Absent eyelashes" EXACT layperson [] synonym: "Agenesis of eyelashes" NARROW [ORCID:0000-0001-5889-4463] synonym: "Aplasia of eyelashes" NARROW [ORCID:0000-0001-5889-4463] synonym: "Atrichia of eyelashes" EXACT [] synonym: "Failure of development of eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1843005 xref: UMLS:C4280626 xref: UMLS:C4280627 is_a: HP:0002550 ! Absent facial hair is_a: HP:0200102 ! Sparse or absent eyelashes [Term] id: HP:0000563 name: Keratoconus def: "A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex." [HPO:probinson, PMID:7767020] comment: Keratoconus is an entity characterid by several phenotypic findings such as corneal distortion (secondary to thinning of the apex) and either Fleischer's ring or Vogt's striae. This HPO term intends to denote the finding of corneal distortion and bulge. subset: hposlim_core synonym: "Bulging cornea" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Conical cornea" EXACT [ORCID:0000-0001-5208-3432] xref: MSH:D007640 xref: SNOMEDCT_US:65636009 xref: UMLS:C0022578 is_a: HP:0100689 ! Decreased corneal thickness is_a: HP:0100692 ! Increased corneal curvature [Term] id: HP:0000564 name: Lacrimal duct atresia alt_id: HP:0007729 def: "A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct." [HPO:probinson] synonym: "Imperforate nasolacrimal ducts" EXACT [] synonym: "Nasolacrimal duct atresia" EXACT [] synonym: "Unopened tear duct" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:278530008 xref: UMLS:C0344511 is_a: HP:0011481 ! Abnormal lacrimal duct morphology [Term] id: HP:0000565 name: Esotropia def: "A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more." [HPO:probinson] comment: Esotropia is analogous to but more severe thatn esophoria. Affected children are more likely to have amblyopia or require corrective eye muscle surgery than children with esophoria. subset: hposlim_core synonym: "Inward turning cross eyed" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D004948 xref: SNOMEDCT_US:16596007 xref: UMLS:C0014877 is_a: HP:0020045 ! Esodeviation is_a: HP:0032012 ! Heterotropia [Term] id: HP:0000567 name: Chorioretinal coloboma alt_id: HP:0000611 alt_id: HP:0007718 alt_id: HP:0007784 alt_id: HP:0007956 def: "Absence of a region of the retina, retinal pigment epithelium, and choroid." [HPO:probinson] synonym: "Birth defect that causes a hole in the innermost layer at the back of the eye" EXACT layperson [orcid.org/0000-0002-6548-5200] synonym: "Choroid coloboma" RELATED [] synonym: "Choroidal coloboma" RELATED [] synonym: "Choroidoretinal coloboma" EXACT [] synonym: "Coloboma of choroid" RELATED [] xref: SNOMEDCT_US:39302008 xref: UMLS:C0240896 is_a: HP:0000532 ! Abnormal chorioretinal morphology is_a: HP:0000589 ! Coloboma [Term] id: HP:0000568 name: Microphthalmia alt_id: HP:0007996 def: "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:probinson] subset: hposlim_core synonym: "Abnormally small eyeball" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormally small globe of eye" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased size of eyeball" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased size of globe of eye" BROAD [ORCID:0000-0001-5889-4463] synonym: "Microphthalmos" EXACT [] synonym: "Nanophthalmos" RELATED [] xref: Fyler:4877 xref: MSH:D008850 xref: SNOMEDCT_US:204108000 xref: SNOMEDCT_US:61142002 xref: UMLS:C0026010 xref: UMLS:C4280625 xref: UMLS:C4280808 is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye is_a: HP:0100887 ! Abnormality of globe size [Term] id: HP:0000570 name: Abnormal saccadic eye movements alt_id: HP:0000604 def: "An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements." [HPO:probinson] comment: Fast (saccadic) eye movements comprise voluntary or involuntary refixation movements, the fast phase of vestibular nystagmus, optokinetic nystagmus, and microsaccades. synonym: "Abnormality of saccadic eye movements" EXACT [] synonym: "Impaired saccades" RELATED [] xref: UMLS:C1842584 xref: UMLS:C4025841 is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000571 name: Hypometric saccades def: "Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object." [HPO:probinson, pmid:572501] xref: SNOMEDCT_US:246768008 xref: UMLS:C0423082 is_a: HP:0000570 ! Abnormal saccadic eye movements [Term] id: HP:0000572 name: Visual loss def: "Loss of visual acuity (implying that vision was better at a certain timepoint in life). Otherwise the term reduced visual acuity should be used (or a subclass of that)." [HPO:sdoelken] synonym: "Loss of vision" EXACT layperson [] synonym: "Vision loss" EXACT layperson [HPO:skoehler] synonym: "Visual loss" EXACT layperson [] xref: SNOMEDCT_US:7973008 xref: UMLS:C3665386 is_a: HP:0000505 ! Visual impairment [Term] id: HP:0000573 name: Retinal hemorrhage def: "Hemorrhage occurring within the retina." [HPO:gcarletti] comment: The type of retinal hemorrhage and its clinical appearance depends on its location within the retina. subset: hposlim_core synonym: "Retinal bleeding" EXACT layperson [] synonym: "Retinal hemorrhages" EXACT HP:0045078 [ORCID:0000-0002-0736-9199] xref: MSH:D012166 xref: SNOMEDCT_US:28998008 xref: UMLS:C0035317 is_a: HP:0000479 ! Abnormal retinal morphology is_a: HP:0011885 ! Hemorrhage of the eye is_a: HP:0031803 ! Fundus hemorrhage [Term] id: HP:0000574 name: Thick eyebrow alt_id: HP:0004546 def: "Increased density/number and/or increased diameter of eyebrow hairs." [pmid:19125427] comment: Thickness can be regional (medial, middle/central, lateral) or total. subset: hposlim_core synonym: "Bushy eyebrows" EXACT layperson [] synonym: "Dense eyebrow" EXACT layperson [] synonym: "Heavy eyebrows" EXACT layperson [] synonym: "Hypertrichosis of the eyebrow" EXACT [] synonym: "Hypertrichosis of the eyebrows" RELATED [HPO:skoehler] synonym: "Prominent eyebrows" EXACT layperson [] synonym: "Thick eyebrow" EXACT layperson [] synonym: "Thick eyebrows" EXACT layperson [HPO:skoehler] xref: UMLS:C1853487 is_a: HP:0000534 ! Abnormal eyebrow morphology [Term] id: HP:0000575 name: Scotoma def: "A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision." [HPO:probinson] subset: hposlim_core synonym: "Blind spot" BROAD layperson [ORCID:0000-0001-5208-3432] xref: MSH:D009898 xref: MSH:D012607 xref: SNOMEDCT_US:23388006 xref: SNOMEDCT_US:81016008 xref: UMLS:C0036454 xref: UMLS:C0344233 is_a: HP:0001123 ! Visual field defect [Term] id: HP:0000576 name: Centrocecal scotoma def: "A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape." [HPO:probinson] xref: MSH:D012607 xref: SNOMEDCT_US:33014001 xref: UMLS:C0271196 is_a: HP:0000575 ! Scotoma [Term] id: HP:0000577 name: Exotropia alt_id: HP:0008033 def: "A form of strabismus with one or both eyes deviated outward." [HPO:probinson] subset: hposlim_core synonym: "Outward facing eye ball" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D005099 xref: SNOMEDCT_US:399054005 xref: SNOMEDCT_US:399252000 xref: UMLS:C0015310 is_a: HP:0020049 ! Exodeviation is_a: HP:0032012 ! Heterotropia [Term] id: HP:0000579 name: Nasolacrimal duct obstruction def: "Blockage of the lacrimal duct." [HPO:probinson] subset: hposlim_core synonym: "Blocked tear duct" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Lacrimal duct obstruction" EXACT [] xref: MSH:D007767 xref: SNOMEDCT_US:231841004 xref: SNOMEDCT_US:246865000 xref: SNOMEDCT_US:314022009 xref: SNOMEDCT_US:416920000 xref: UMLS:C0022906 xref: UMLS:C1281931 is_a: HP:0011481 ! Abnormal lacrimal duct morphology [Term] id: HP:0000580 name: Pigmentary retinopathy alt_id: HP:0001146 alt_id: HP:0007702 alt_id: HP:0007821 alt_id: HP:0007852 alt_id: HP:0007869 alt_id: HP:0007934 alt_id: HP:0007961 alt_id: HP:0008010 def: "An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss." [ORCID:0000-0003-0986-4123] synonym: "Pigmentary retinal deposits" EXACT [] synonym: "Retinal pigment clumping" EXACT [] synonym: "Retinal pigmentary degeneration" EXACT [] xref: MSH:D012174 xref: SNOMEDCT_US:28835009 xref: UMLS:C0035334 is_a: HP:0007703 ! Abnormality of retinal pigmentation [Term] id: HP:0000581 name: Blepharophimosis alt_id: HP:0000507 alt_id: HP:0000513 def: "A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures." [pmid:19125427] comment: When the palpebral fissures are severely shortened, they cannot be widely separated, actively or passively. subset: hposlim_core synonym: "Decreased width of palpebral fissure" EXACT [ORCID:0000-0001-5889-4463] synonym: "Narrow opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D016569 xref: UMLS:C0005744 is_a: HP:0200007 ! Abnormal size of the palpebral fissures [Term] id: HP:0000582 name: Upslanted palpebral fissure def: "The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age." [pmid:19125427] subset: hposlim_core synonym: "Mongoloid slant" EXACT [] synonym: "Upslanted palpebral fissures" RELATED [HPO:skoehler] synonym: "Upslanting palpebral fissures" EXACT [] synonym: "Upward slanted palpebral fissures" EXACT [] synonym: "Upward slanting of palpebral fissures" EXACT [] synonym: "Upward slanting of the opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Upward slanting palpebral fissures" EXACT [] xref: SNOMEDCT_US:246799009 xref: UMLS:C0423109 is_a: HP:0200006 ! Slanting of the palpebral fissure [Term] id: HP:0000584 name: Punctate corneal epithelial erosions xref: UMLS:C1832170 is_a: HP:0200020 ! Corneal erosion [Term] id: HP:0000585 name: Band keratopathy def: "An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation." [HPO:probinson] subset: hposlim_core synonym: "Calcific band keratopathy" EXACT [] xref: MSH:C562399 xref: SNOMEDCT_US:35055000 xref: UMLS:C0155120 is_a: HP:0011493 ! Central opacification of the cornea [Term] id: HP:0000586 name: Shallow orbits alt_id: HP:0002706 def: "Reduced depth of the orbits associated with prominent-appearing ocular globes." [HPO:probinson] synonym: "Decreased depth of eye sockets" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased depth of orbits" EXACT [ORCID:0000-0001-5889-4463] synonym: "Shallow eye sockets" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Small shallow orbits" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1865244 is_a: HP:0000520 ! Proptosis is_a: HP:3000030 ! Abnormality of bony orbit of skull [Term] id: HP:0000587 name: Abnormality of the optic nerve def: "Abnormality of the optic nerve." [HPO:probinson] comment: The optic nerve, which is also known as cranial nerve II, transmits visual information from the retina to the brain. The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination. subset: hposlim_core synonym: "optic nerve abnormalities" EXACT [] synonym: "Optic nerve issue" EXACT layperson [] xref: UMLS:C0029131 is_a: HP:0001098 ! Abnormal fundus morphology [Term] id: HP:0000588 name: Optic nerve coloboma alt_id: HP:0007997 def: "A cleft of the optic nerve that extends inferiorly." [HPO:probinson, pmid:16219745] comment: A congenital, unilateral or bilateral congenital condition caused by incomplete closure of the embryonic fissure. subset: hposlim_core synonym: "Coloboma of optic nerve" EXACT [] synonym: "Optic disk coloboma" EXACT [] xref: MSH:C535970 xref: SNOMEDCT_US:17541006 xref: SNOMEDCT_US:44295002 xref: UMLS:C0155299 is_a: HP:0000587 ! Abnormality of the optic nerve is_a: HP:0000589 ! Coloboma [Term] id: HP:0000589 name: Coloboma alt_id: HP:0007767 alt_id: HP:0007995 def: "A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa." [HPO:probinson] synonym: "Notched pupil" EXACT layperson [] synonym: "Ocular coloboma" EXACT [] synonym: "Ocular colobomas" EXACT [] xref: Fyler:4311 xref: MSH:D003103 xref: SNOMEDCT_US:92828000 xref: SNOMEDCT_US:93390002 xref: UMLS:C0009363 is_a: HP:0012372 ! Abnormal eye morphology [Term] id: HP:0000590 name: Progressive external ophthalmoplegia alt_id: HP:0000562 def: "Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades." [HPO:probinson] comment: Progressive external ophthalmoplegia (PEO) can be regarded as a diagnosis, or as a feature of several other syndromes. The latter is the meaning of this term. synonym: "External ophthalmoplegia, progressive" EXACT [] xref: MSH:D017246 xref: SNOMEDCT_US:46252003 xref: UMLS:C0162674 is_a: HP:0000544 ! External ophthalmoplegia [Term] id: HP:0000591 name: Abnormal sclera morphology def: "An abnormality of the sclera." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the outer white part of eyeball" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the sclera" EXACT [] xref: UMLS:C4025840 is_a: HP:0012372 ! Abnormal eye morphology [Term] id: HP:0000592 name: Blue sclerae def: "An abnormal bluish coloration of the sclera." [HPO:probinson] subset: hposlim_core synonym: "Blue outer white part of eyeball" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Blue sclera" EXACT [] synonym: "Bluish sclerae" EXACT [] synonym: "Whites of eyes are a bluish-gray color" EXACT layperson [orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:204164000 xref: UMLS:C0542514 is_a: HP:0000591 ! Abnormal sclera morphology [Term] id: HP:0000593 name: Abnormal anterior chamber morphology def: "Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the anterior chamber" EXACT [] synonym: "Anterior chamber anomalies" EXACT [] synonym: "Ocular anterior chamber abnormality" EXACT [] xref: SNOMEDCT_US:204142009 xref: UMLS:C3152182 is_a: HP:0004328 ! Abnormal anterior eye segment morphology [Term] id: HP:0000594 name: Shallow anterior chamber alt_id: HP:0007756 def: "Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased." [HPO:probinson] xref: SNOMEDCT_US:246986004 xref: UMLS:C0423276 is_a: HP:0000593 ! Abnormal anterior chamber morphology [Term] id: HP:0000597 name: Ophthalmoparesis alt_id: HP:0007701 alt_id: HP:0008044 def: "Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement." [HPO:curators] synonym: "Extraocular muscle palsy" EXACT [] synonym: "Extraocular muscle paralysis" EXACT [] synonym: "Weakness of extraocular eye movement" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Weakness of muscles controlling eye movement" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:D009886 xref: UMLS:C0751401 is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000598 name: Abnormality of the ear def: "An abnormality of the ear." [HPO:probinson] comment: Either a morphological abnormality or hearing deficit. This should be split more cleanly in the future. subset: hposlim_core synonym: "Abnormality of the ear" EXACT layperson [] synonym: "Ear anomaly" EXACT [] xref: SNOMEDCT_US:275259005 xref: UMLS:C0266589 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000599 name: Abnormality of the frontal hairline def: "An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not." [HPO:probinson] synonym: "Abnormality of hairline at front of head" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the frontal hairline" EXACT layperson [] xref: UMLS:C4025839 is_a: HP:0000290 ! Abnormality of the forehead is_a: HP:0009553 ! Abnormality of the hairline created_by: peter creation_date: 2008-02-27T05:34:00Z [Term] id: HP:0000600 name: Abnormality of the pharynx def: "An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly." [HPO:probinson] comment: The pharynx is tubular structure extending from base of skull superiorly\nto esophageal inlet inferiorly, and is composed of three distinct areas: the nasopharynx, the oropharynx, and the hypopharynx, with the pharyngeal walls being composed of the superior, middle, and inferior pharyngeal constrictor muscles. It is part of the digestive system and of the conducting zone of the respiratory system. xref: UMLS:C4025838 is_a: HP:0000234 ! Abnormality of the head [Term] id: HP:0000601 name: Hypotelorism alt_id: HP:0007877 def: "Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes)." [HPO:probinson, pmid:19125427] subset: hposlim_core synonym: "Abnormally close eyes" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Closely spaced eyes" EXACT layperson [] synonym: "Decreased distance between eye sockets" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased distance between eyes" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased interpupillary distance" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased orbital separation" EXACT [ORCID:0000-0001-5889-4463] synonym: "Ocular hypotelorism" EXACT [] xref: SNOMEDCT_US:44593008 xref: UMLS:C0424711 is_a: HP:0100886 ! Abnormality of globe location [Term] id: HP:0000602 name: Ophthalmoplegia def: "Paralysis of one or more extraocular muscles that are responsible for eye movements." [HPO:probinson] synonym: "Eye muscle paralysis" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Paralysis of extraocular eye movement" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] xref: MSH:D009886 xref: SNOMEDCT_US:16110005 xref: UMLS:C0029089 is_a: HP:0000597 ! Ophthalmoparesis [Term] id: HP:0000603 name: Central scotoma def: "An area of depressed vision located at the point of fixation and that interferes with central vision." [HPO:probinson] subset: hposlim_core synonym: "Blind spot located at fixation point" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Central blind spot" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Central scotomata" EXACT [] xref: MSH:D012607 xref: SNOMEDCT_US:38950008 xref: UMLS:C0152191 xref: UMLS:C4280624 is_a: HP:0000575 ! Scotoma [Term] id: HP:0000605 name: Supranuclear gaze palsy def: "A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal." [HPO:probinson] synonym: "Supranuclear gaze paralysis" EXACT [] xref: SNOMEDCT_US:420675003 xref: UMLS:C1720037 is_a: HP:0000549 ! Abnormal conjugate eye movement [Term] id: HP:0000606 name: Abnormality of the periorbital region def: "An abnormality of the region situated around the orbit of the eye." [HPO:probinson] synonym: "Abnormality of the region around the eye" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the region around the eye socket" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Anomaly of the periorbital region" NARROW [ORCID:0000-0001-5889-4463] synonym: "Deformity of the periorbital region" NARROW [ORCID:0000-0001-5889-4463] synonym: "Malformation of the periorbital region" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4025837 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000607 name: Periorbital wrinkles synonym: "Excess periorbital skin wrinkling" EXACT [] synonym: "Periorbital rhytids" EXACT [ORCID:0000-0001-5889-4463] synonym: "Periorbital wrinkling" EXACT [] synonym: "Wrinkles around the eyes" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1844605 is_a: HP:0000606 ! Abnormality of the periorbital region is_a: HP:0100678 ! Premature skin wrinkling [Term] id: HP:0000608 name: Macular degeneration alt_id: HP:0007694 alt_id: HP:0007868 def: "A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea." [HPO:probinson, ORCID:0000-0003-0986-4123] synonym: "Pigmented macular degeneration" EXACT [] xref: SNOMEDCT_US:422338006 xref: UMLS:C0024437 is_a: HP:0000546 ! Retinal degeneration is_a: HP:0001103 ! Abnormal macular morphology [Term] id: HP:0000609 name: Optic nerve hypoplasia alt_id: HP:0007273 def: "Underdevelopment of the optic nerve." [HPO:probinson] synonym: "Hypoplastic optic nerves" EXACT [] synonym: "Underdeveloped optic nerves" EXACT [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:95499004 xref: UMLS:C0338502 is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system is_a: HP:0008058 ! Aplasia/Hypoplasia of the optic nerve [Term] id: HP:0000610 name: Abnormal choroid morphology alt_id: HP:0001122 def: "Any structural abnormality of the choroid." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the choroid" EXACT [] synonym: "Choroid disease" RELATED [] xref: MSH:D015862 xref: UMLS:C0008521 xref: UMLS:C4025836 is_a: HP:0000553 ! Abnormal uvea morphology is_a: HP:0001098 ! Abnormal fundus morphology [Term] id: HP:0000611 name: obsolete Choroid coloboma is_obsolete: true replaced_by: HP:0000567 [Term] id: HP:0000612 name: Iris coloboma alt_id: HP:0007744 alt_id: HP:0007748 def: "A coloboma of the iris." [HPO:probinson, pmid:19369671] subset: hposlim_core synonym: "Cat eye" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Coloboma of iris" EXACT [] synonym: "Coloboma of the iris" EXACT [] synonym: "Keyhole iris" EXACT [] xref: UMLS:C0240063 is_a: HP:0000525 ! Abnormality iris morphology is_a: HP:0000589 ! Coloboma [Term] id: HP:0000613 name: Photophobia def: "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:probinson] comment: Note that the term photodysphoria is used to describe extreme photophobia. subset: hposlim_core synonym: "Extreme sensitivity of the eyes to light" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Light hypersensitivity" EXACT layperson [] synonym: "Photodysphoria" RELATED [] xref: MSH:D020795 xref: SNOMEDCT_US:246622003 xref: SNOMEDCT_US:409668002 xref: UMLS:C0085636 xref: UMLS:C4020887 is_a: HP:0000504 ! Abnormality of vision is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0000614 name: Abnormal nasolacrimal system morphology def: "An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity." [DDD:ncarter] comment: The nasolacrimal system consists of the puncta, canaliculi, lacrimal sac, and nasolacrimal duct. subset: hposlim_core synonym: "Abnormality of the nasolacrimal system" EXACT [] xref: UMLS:C4025835 is_a: HP:0030669 ! Abnormal ocular adnexa morphology [Term] id: HP:0000615 name: Abnormal pupil morphology alt_id: HP:0008018 alt_id: HP:0030960 def: "An abnormality of the pupil." [HPO:probinson] subset: hposlim_core synonym: "Abnormal pupillary morphology" EXACT [] synonym: "Abnormality of the pupil" EXACT layperson [] synonym: "Pupillary abnormalities" EXACT layperson [] synonym: "Pupillary abnormality" EXACT layperson [] xref: SNOMEDCT_US:274093008 xref: UMLS:C0154936 is_a: HP:0000525 ! Abnormality iris morphology [Term] id: HP:0000616 name: Miosis def: "Abnormal (non-physiological) constriction of the pupil." [HPO:probinson] subset: hposlim_core synonym: "Constricted pupils" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Pupillary constriction" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D015877 xref: SNOMEDCT_US:63251006 xref: UMLS:C0026205 is_a: HP:0007686 ! Abnormal pupillary function [Term] id: HP:0000617 name: Abnormality of ocular smooth pursuit alt_id: HP:0007671 alt_id: HP:0008006 def: "An abnormality of eye movement characterized by impaired smooth-pursuit eye movements." [HPO:probinson] comment: Tracking eye movements consist of two different components, namely, smooth pursuit and saccades. Smooth pursuit, or just pursuit, is a class of rather slow eye movements that minimizes retinal target motion. Saccades are rapid eye movements that align the fovea with the target. Slow-pursuit eye movements are involved in tracking a slowly moving target after the saccadic system has placed the image of the target on the fovea. synonym: "Abnormal smooth pursuits" EXACT [] synonym: "Disrupted ocular pursuit movements" EXACT [] synonym: "Impaired smooth pursuit ocular movements" EXACT [] synonym: "Irregular visual pursuit movements" EXACT [] xref: UMLS:C1836393 is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000618 name: Blindness alt_id: HP:0007839 def: "Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degress in radius around central fixation." [DDD:gblack, PMID:28779882] comment: Various scales have been developed to describe the extent of vision loss and define blindness. Total blindness is the complete lack of form and visual light perception and is clinically recorded as NLP (no light perception). Blindness is frequently used to describe severe visual impairment with residual vision. Those described as having only light perception have no more sight than the ability to tell light from dark and the general direction of a light source. subset: hposlim_core synonym: "Blindness" EXACT layperson [] synonym: "Legal blindness" RELATED layperson [] synonym: "Total vision loss" EXACT [] xref: Fyler:4866 xref: MSH:D001766 xref: SNOMEDCT_US:65956007 xref: UMLS:C0271215 xref: UMLS:C0456909 is_a: HP:0007663 ! Reduced visual acuity [Term] id: HP:0000619 name: Impaired convergence def: "Reduced ability to turn the eyes inward in order to focus on a nearby object." [HPO:probinson] comment: Vergence alters the angle between the two eyes to adjust for changes in distance from the visual target. synonym: "Convergence insufficiency" EXACT [] xref: MSH:D015835 xref: SNOMEDCT_US:194131002 xref: UMLS:C0271379 is_a: HP:0000549 ! Abnormal conjugate eye movement [Term] id: HP:0000620 name: Dacryocystitis def: "Inflammation of the nasolacrimal sac." [HPO:probinson] comment: Dacrocystitis is frequently caused by nasolacrimal duct obstruction or infection, which often results from stagnation of tears in a pathologically closed lacrimal drainage system. Note also that dacryocystistis has often been misspelled as dacrocystitis in the literature, but the correct spelling is dacryocystitis. synonym: "Dacrocystitis" EXACT [] synonym: "Infection of the lacrimal sac" EXACT [https://en.wikipedia.org/wiki/dacryocystitis, ORCID:0000-0001-5208-3432] xref: MSH:D003607 xref: SNOMEDCT_US:85777005 xref: UMLS:C0010930 is_a: HP:0000614 ! Abnormal nasolacrimal system morphology [Term] id: HP:0000621 name: Entropion def: "An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital." [ORCID:0000-0003-0986-4123, pmid:19125427] comment: The inward turned eyelid margin increases the potential for mechanical irritation of the eye by eyelashes. Entropion is to be distinguished from epiblepharon. subset: hposlim_core synonym: "Eyelid folded in" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Eyelid turned in" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Inverted eyelid" RELATED layperson [ORCID:0000-0001-5889-4463] xref: MSH:D004774 xref: SNOMEDCT_US:33168009 xref: UMLS:C0014390 is_a: HP:0000492 ! Abnormal eyelid morphology [Term] id: HP:0000622 name: Blurred vision alt_id: HP:0007723 def: "Lack of sharpness of vision resulting in the inability to see fine detail." [HPO:probinson] comment: This is a very nonspecific term and it is preferable to describe the correlates of blurred vision with the corresponding terms if possible. subset: hposlim_core synonym: "Blurred vision" EXACT layperson [] xref: SNOMEDCT_US:111516008 xref: SNOMEDCT_US:246636008 xref: UMLS:C0344232 is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0000623 name: Supranuclear ophthalmoplegia def: "A vertical gaze palsy with inability to direct the gaze of the eyes downwards." [HPO:probinson, pmid:20629667] subset: hposlim_core xref: UMLS:C1408507 is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0000625 name: Eyelid coloboma def: "A short discontinuity of the margin of the lower or upper eyelid." [pmid:19125427] comment: The lateral segment of the lower eyelid is most commonly involved. As the milder forms of this finding are clearly subjective and no boundary of subjective and objective is defined, the term is considered subjective. The term eyelid coloboma has been replaced because the word coloboma should be used only for defects at the site of fusion of embryologic structures, which is not the case here. Modifiers to designate the location of the cleft may be added, such as lower and lateral. subset: hposlim_core synonym: "Cleft eyelid" EXACT layperson [] synonym: "Eyelid coloboma" EXACT [] synonym: "Full thickness defect of the eyelid" EXACT [ORCID:0000-0001-5889-4463] synonym: "Notched eyelid" EXACT layperson [] xref: SNOMEDCT_US:95202004 xref: UMLS:C0521573 is_a: HP:0011226 ! Aplasia/Hypoplasia of the eyelid [Term] id: HP:0000627 name: Posterior embryotoxon alt_id: HP:0100740 def: "A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe." [HPO:probinson] comment: Schwalbe's line is the anatomical line found on the interior surface of the cornea, and delineates the outer limit of the corneal endothelium layer. Specifically, it represents the termination of Descemet's membrane. Up to 30% of the population has posterior embryotoxon as an isolated normal variant. subset: hposlim_core synonym: "Embryotoxon" EXACT [] xref: SNOMEDCT_US:253228006 xref: SNOMEDCT_US:392437005 xref: UMLS:C0344531 xref: UMLS:C0546967 is_a: HP:0008048 ! Abnormality of the line of Schwalbe [Term] id: HP:0000629 name: Periorbital fullness def: "Increase in periorbital soft tissue." [HPO:sdoelken] synonym: "Fullness around the eyes" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Periorbital puffiness" EXACT [] synonym: "Puffiness around eye" EXACT layperson [ORCID:0000-0002-6548-5200] xref: UMLS:C1858036 is_a: HP:0000606 ! Abnormality of the periorbital region [Term] id: HP:0000630 name: Abnormal retinal artery morphology synonym: "Abnormality of retinal arteries" EXACT layperson [] synonym: "Retinal arterial abnormality" EXACT layperson [] xref: UMLS:C4021802 is_a: HP:0008046 ! Abnormal retinal vascular morphology is_a: HP:0011004 ! Abnormal systemic arterial morphology is_a: HP:3000036 ! Abnormality of head blood vessel [Term] id: HP:0000631 name: Retinal arterial tortuosity def: "The presence of an increased number of twists and turns of the retinal artery." [HPO:probinson] subset: hposlim_core synonym: "Retinal artery tortuousity" EXACT [] xref: SNOMEDCT_US:247123003 xref: UMLS:C0423401 is_a: HP:0000630 ! Abnormal retinal artery morphology is_a: HP:0005116 ! Arterial tortuosity is_a: HP:0012841 ! Retinal vascular tortuosity [Term] id: HP:0000632 name: Lacrimation abnormality alt_id: HP:0000521 def: "Abnormality of tear production." [HPO:probinson] synonym: "Abnormality of tear production" EXACT layperson [] xref: UMLS:C4021801 is_a: HP:0012373 ! Abnormal eye physiology [Term] id: HP:0000633 name: Decreased lacrimation def: "Abnormally decreased lacrimation, that is, reduced ability to produce tears." [HPO:probinson] synonym: "Decreased tear secretion" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C0235857 is_a: HP:0000632 ! Lacrimation abnormality [Term] id: HP:0000634 name: Impaired ocular abduction def: "An impaired ability of the eye to move in the outward direction (towards the side of the head)." [HPO:probinson] xref: UMLS:C1846462 is_a: HP:0011347 ! Abnormality of ocular abduction [Term] id: HP:0000635 name: Blue irides def: "A markedly blue coloration of the iris." [HPO:probinson] synonym: "Blue eyes" EXACT layperson [] xref: SNOMEDCT_US:301952009 xref: UMLS:C0578626 is_a: HP:0008034 ! Abnormal iris pigmentation [Term] id: HP:0000636 name: Upper eyelid coloboma def: "A short discontinuity of the margin of the upper eyelid." [HPO:probinson] synonym: "Cleft upper eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Coloboma of the upper eyelid" EXACT [] synonym: "Full thickness defect of the upper eyelid" EXACT [ORCID:0000-0001-5889-4463] synonym: "Notched upper eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Upper eyelid colobomas" EXACT [] xref: UMLS:C1863872 is_a: HP:0000625 ! Eyelid coloboma [Term] id: HP:0000637 name: Long palpebral fissure alt_id: HP:0007904 def: "Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures." [pmid:19125427] subset: hposlim_core synonym: "Broad opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Broad palpebral fissure" EXACT [ORCID:0000-0001-5889-4463] synonym: "Long opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Long palpebral fissures" EXACT [HPO:skoehler] synonym: "Wide opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Wide palpebral fissure" EXACT [HPO:skoehler] synonym: "Wide palpebral fissures" EXACT [] xref: UMLS:C1849340 is_a: HP:0200007 ! Abnormal size of the palpebral fissures [Term] id: HP:0000639 name: Nystagmus def: "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] subset: hposlim_core synonym: "Involuntary, rapid, rhythmic eye movements" EXACT layperson [orcid.org/0000-0002-6548-5200] xref: MSH:D009759 xref: SNOMEDCT_US:563001 xref: UMLS:C0028738 is_a: HP:0012547 ! Abnormal involuntary eye movements [Term] id: HP:0000640 name: Gaze-evoked nystagmus def: "Nystagmus made apparent by looking to the right or to the left." [HPO:curators] xref: MSH:D009760 xref: SNOMEDCT_US:29356006 xref: UMLS:C0271390 is_a: HP:0000639 ! Nystagmus [Term] id: HP:0000641 name: Dysmetric saccades def: "The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results." [HPO:probinson, pmid:572501] subset: hposlim_core synonym: "Dysmetric eye movements" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Dysmetric eye saccades" EXACT [] synonym: "Uncoordinated eye movement" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1836392 is_a: HP:0000570 ! Abnormal saccadic eye movements [Term] id: HP:0000642 name: Red-green dyschromatopsia alt_id: HP:0007960 def: "Difficulty with discriminating red and green hues." [DDD:gblack] synonym: "Dyschromatopsia with red-green confusion" EXACT [] synonym: "Red green color blindness" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Red/green color vision defect" RELATED [HPO:skoehler] xref: MSH:D003117 xref: SNOMEDCT_US:246674000 xref: SNOMEDCT_US:77479002 xref: UMLS:C0155016 xref: UMLS:C1970168 is_a: HP:0007641 ! Dyschromatopsia [Term] id: HP:0000643 name: Blepharospasm alt_id: HP:0007907 def: "A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids." [HPO:probinson] synonym: "Eyelid spasm" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Eyelid twitching" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Involuntary closure of eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Spontaneous closure of eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D001764 xref: SNOMEDCT_US:59026006 xref: UMLS:C0005747 is_a: HP:0012179 ! Craniofacial dystonia is_a: HP:0031879 ! Abnormal eyelid physiology [Term] id: HP:0000646 name: Amblyopia def: "Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways." [HPO:probinson] comment: Ambylopia can result from visual deprivation during the critical period of development of visual abilities which lasts to about the age of 8 years. Thus, ambylopia can result from strabismus, anisometropia, or high hypermetropia in there is a failure to form a focused image in one or both eyes. subset: hposlim_core synonym: "Lazy eye" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Wandering eye" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Wandering eyes" EXACT [HPO:skoehler] xref: MSH:D000550 xref: SNOMEDCT_US:387742006 xref: UMLS:C0002418 is_a: HP:0007663 ! Reduced visual acuity [Term] id: HP:0000647 name: Sclerocornea def: "A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea." [HPO:probinson] subset: hposlim_core synonym: "Hardening of skin and connective tissue" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:C565209 xref: UMLS:C1853235 is_a: HP:0007957 ! Corneal opacity [Term] id: HP:0000648 name: Optic atrophy alt_id: HP:0007751 alt_id: HP:0007855 def: "Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy." [HPO:probinson] comment: The diagnosis of optic atrophy is made when the optic disc loses its normal orange-pink color. Optic atrophy is an end stage that arises from myriad causes of optic nerve damage anywhere along the path from the retina to the lateral geniculate. Some of the most common etiologies are advanced glaucoma, optic neuritis, arteritic or non-arteritic ischaemic optic neuropathy or a compressive lesion. subset: hposlim_core synonym: "Optic nerve atrophy" EXACT [] synonym: "Optic-nerve degeneration" EXACT [] xref: MSH:D009896 xref: SNOMEDCT_US:76976005 xref: UMLS:C0029124 is_a: HP:0012795 ! Abnormality of the optic disc [Term] id: HP:0000649 name: Abnormality of visual evoked potentials def: "An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex." [HPO:probinson, pmid:19826847] comment: The terms visually evoked potential (VEP), visually evoked response (VER) and visually evoked cortical potential (VECP) are equivalent. subset: hposlim_core synonym: "Abnormal vision evoked potentials" EXACT [] synonym: "Abnormal visual evoked potential" EXACT [] synonym: "Abnormal visual evoked responses" EXACT [] synonym: "Abnormal visual-evoked potentials" EXACT [] synonym: "VEP abnormalities" EXACT [] xref: SNOMEDCT_US:102968003 xref: UMLS:C0522214 is_a: HP:0030453 ! Abnormal visual electrophysiology [Term] id: HP:0000650 name: Abnormal amplitude of pattern reversal visual evoked potentials xref: UMLS:C4025834 is_a: HP:0100289 ! Abnormality of pattern reversal visual evoked potentials [Term] id: HP:0000651 name: Diplopia def: "Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision." [HPO:probinson] subset: hposlim_core synonym: "Double vision" EXACT layperson [] xref: MSH:D004172 xref: SNOMEDCT_US:24982008 xref: UMLS:C0012569 is_a: HP:0011514 ! Abnormality of binocular vision [Term] id: HP:0000652 name: Lower eyelid coloboma alt_id: HP:0007909 def: "A short discontinuity of the margin of the lower eyelid." [HPO:probinson] synonym: "Cleft lower eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Coloboma of lower eyelid" EXACT [] synonym: "Full thickness defect of the lower eyelid" EXACT [ORCID:0000-0001-5889-4463] synonym: "Lower lid coloboma" EXACT [] synonym: "Notched lower eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1837826 is_a: HP:0000625 ! Eyelid coloboma [Term] id: HP:0000653 name: Sparse eyelashes alt_id: HP:0002284 alt_id: HP:0004519 alt_id: HP:0004531 alt_id: HP:0004555 alt_id: HP:0004777 alt_id: HP:0007853 def: "Decreased density/number of eyelashes." [pmid:19125427] subset: hposlim_core synonym: "Hypotrichosis of eyelashes" EXACT [ORCID:0000-0001-5889-4463] synonym: "Partial absence of eyelashes" EXACT [ORCID:0000-0001-5889-4463] synonym: "Scant eyelashes" EXACT layperson [] synonym: "Scanty eyelashes" EXACT layperson [] synonym: "Sparse eyelashes" EXACT layperson [] synonym: "Thin eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1843300 is_a: HP:0008070 ! Sparse hair is_a: HP:0200102 ! Sparse or absent eyelashes [Term] id: HP:0000654 name: Decreased light- and dark-adapted electroretinogram amplitude alt_id: HP:0007636 alt_id: HP:0007689 alt_id: HP:0007845 def: "Descreased amplitude of eletrical response upon electroretinography." [HPO:probinson] synonym: "Decreased amplitudes on flash visual electroretinogram" EXACT [] synonym: "Decreased electroretinogram" EXACT [] synonym: "Decreased electroretinogram amplitude" EXACT [] synonym: "Decreased electroretinogram response" EXACT [] synonym: "Decreased ERG amplitude" EXACT [] synonym: "Flattened or absent electroretinogram" EXACT [] synonym: "Reduced electroretinogram" EXACT [] synonym: "Reduced ERG" EXACT [] synonym: "Reduced or abolished electroretinogram" EXACT [] xref: UMLS:C1839025 is_a: HP:0008323 ! Abnormal light- and dark-adapted electroretinogram [Term] id: HP:0000655 name: obsolete Vitreoretinal degeneration is_obsolete: true replaced_by: HP:0007773 [Term] id: HP:0000656 name: Ectropion def: "An outward turning (eversion) or rotation of the eyelid margin." [pmid:19125427] comment: Ectropion is frequently associated wit overexposure of the palpebral and scleral conjunctiva and cornea. It usually involves the lower eyelid. subset: hposlim_core synonym: "Everted eyelid" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Eyelid folded out" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Eyelid turned out" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D004483 xref: SNOMEDCT_US:127559009 xref: SNOMEDCT_US:62909004 xref: UMLS:C0013592 is_a: HP:0000492 ! Abnormal eyelid morphology [Term] id: HP:0000657 name: Oculomotor apraxia alt_id: HP:0000628 alt_id: HP:0007764 def: "Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex." [HPO:probinson, pmid:20615230] comment: Oculomotor apraxia leads defective or absent horizontal voluntary eye movements with head thrusting to look at objects to the side as well as jerky, abnormal eye movements. subset: hposlim_core synonym: "Defective or absent horizontal voluntary eye movements" RELATED [] synonym: "Ocular motor apraxia" EXACT [] xref: MSH:C537423 xref: SNOMEDCT_US:193662007 xref: UMLS:C3489733 xref: UMLS:C4020886 is_a: HP:0000496 ! Abnormality of eye movement is_a: HP:0002186 ! Apraxia [Term] id: HP:0000658 name: Eyelid apraxia synonym: "Difficulty opening the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:423142006 xref: UMLS:C1142448 is_a: HP:0002186 ! Apraxia is_a: HP:0031879 ! Abnormal eyelid physiology [Term] id: HP:0000659 name: Peters anomaly def: "A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity." [HPO:probinson] subset: hposlim_core xref: MSH:C537884 xref: SNOMEDCT_US:204153003 xref: UMLS:C0344559 is_a: HP:0007700 ! Ocular anterior segment dysgenesis [Term] id: HP:0000660 name: Lipemia retinalis def: "A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature." [pmid:10379021, pmid:16120862] comment: Lipemia retinalis is thought to be directly correlated with the serum triglyceride level; typically, the retinal findings do not occur until the triglyceride level reaches 2500 mg per deciliter (28.2 mmol per liter). xref: SNOMEDCT_US:95692001 xref: UMLS:C0339477 is_a: HP:0008046 ! Abnormal retinal vascular morphology [Term] id: HP:0000661 name: Palpebral fissure narrowing on adduction xref: UMLS:C1846465 is_a: HP:0000581 ! Blepharophimosis [Term] id: HP:0000662 name: Nyctalopia alt_id: HP:0007653 alt_id: HP:0007725 alt_id: HP:0007865 alt_id: HP:0007895 def: "Inability to see well at night or in poor light." [HPO:probinson] subset: hposlim_core synonym: "Difficulties with night vision" RELATED layperson [] synonym: "Night blindness" EXACT layperson [] synonym: "Night-blindness" EXACT layperson [] synonym: "Poor night vision" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] xref: MSH:D009755 xref: SNOMEDCT_US:65194006 xref: UMLS:C0028077 xref: UMLS:C4020885 is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0000664 name: Synophrys alt_id: HP:0002210 def: "Meeting of the medial eyebrows in the midline." [pmid:19125427] subset: hposlim_core synonym: "Monobrow" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Synophris" EXACT [] synonym: "Unibrow" EXACT layperson [] xref: SNOMEDCT_US:253207002 xref: UMLS:C0431447 is_a: HP:0000534 ! Abnormal eyebrow morphology is_a: HP:0002219 ! Facial hypertrichosis [Term] id: HP:0000666 name: Horizontal nystagmus def: "Nystagmus consisting of horizontal to-and-fro eye movements." [HPO:probinson] subset: hposlim_core synonym: "Nystagmus, horizontal" EXACT [] xref: MSH:D009759 xref: SNOMEDCT_US:81756001 xref: UMLS:C0271385 is_a: HP:0000639 ! Nystagmus [Term] id: HP:0000667 name: Phthisis bulbi def: "Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease." [HPO:probinson] comment: Phthisis bulbi refers to atrophy and degeneration of a blind eye. subset: hposlim_core xref: SNOMEDCT_US:4229009 xref: UMLS:C0271007 is_a: HP:0012372 ! Abnormal eye morphology [Term] id: HP:0000668 name: Hypodontia def: "A developmental anomaly characterized by a reduced number of teeth, whereby up to 6 teeth are missing." [HPO:ibailleulforestier] comment: Hypodontia refers to a reduced number of primary or permanent teeth. Hypodontia may affect either both primary and permanent teeth or only the permanent teeth. Wisdom teeth (the third secondary maxillary and mandibular molar teeth) are not included in this count. subset: hposlim_core synonym: "Failure of development of between one and six teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Missing between one and six teeth" RELATED layperson [ORCID:0000-0001-5889-4463] xref: MSH:D000848 xref: SNOMEDCT_US:64969001 xref: UMLS:C0020608 is_a: HP:0009804 ! Reduced number of teeth [Term] id: HP:0000670 name: Carious teeth alt_id: HP:0006295 alt_id: HP:0006306 def: "Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries." [HPO:probinson] comment: It should be noted that it is not always possible to rule out environmental influences and that reports of association between hereditary diseases and susceptibility to dental caries should be regarded with caution. subset: hposlim_core synonym: "Caries" EXACT [] synonym: "Cariosity of teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Dental caries" EXACT [] synonym: "Dental cavities" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Dental decay" RELATED layperson [] synonym: "Early dental caries" EXACT [] synonym: "Frequent caries" EXACT [] synonym: "Rotting teeth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Tooth cavities" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Tooth decay" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D003731 xref: SNOMEDCT_US:80967001 xref: UMLS:C0011334 xref: UMLS:C4280623 is_a: HP:0011061 ! Abnormality of dental structure [Term] id: HP:0000674 name: Anodontia alt_id: HP:0006484 def: "The congenital absence of all teeth." [HPO:ibailleulforestier] comment: Anodontia can affect both primary and permanent teeth. Alternatively, there can be anodontia of just the permanent teeth. Anodontia must be distinguished from non-erupted teeth. synonym: "Anodontia vera" EXACT [ORCID:0000-0001-5889-4463] synonym: "Complete agenesis of all teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Complete anodontia" NARROW [ORCID:0000-0001-5889-4463] synonym: "Dental agenesis" EXACT [] synonym: "Failure of development of all teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Missing all teeth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Total absence of all teeth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Total anodontia" NARROW [ORCID:0000-0001-5889-4463] xref: MSH:D000848 xref: SNOMEDCT_US:16958000 xref: SNOMEDCT_US:26624006 xref: UMLS:C0399352 xref: UMLS:C4280622 is_a: HP:0009804 ! Reduced number of teeth [Term] id: HP:0000675 name: Macrodontia of permanent maxillary central incisor def: "Increased size of the maxillary central secondary incisor tooth." [HPO:ibailleulforestier] synonym: "Hyperplasia of permanent maxillary central incisor" BROAD [ORCID:0000-0001-5889-4463] synonym: "Hypertrophy of permanent maxillary central incisor" BROAD [ORCID:0000-0001-5889-4463] synonym: "Increased size of permanent maxillary central incisor" BROAD [ORCID:0000-0001-5889-4463] synonym: "Increased size of permanent upper central incisor" BROAD [ORCID:0000-0001-5889-4463] synonym: "Increased width of permanent maxillary central incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased width of permanent upper central incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Large permanent maxillary central incisor" BROAD [ORCID:0000-0001-5889-4463] synonym: "Large permanent upper central incisor" BROAD [ORCID:0000-0001-5889-4463] synonym: "Long maxillary central incisors" EXACT [] synonym: "Prominent upper incisors" EXACT [] synonym: "Prominent, protruding upper incisors" EXACT [] xref: UMLS:C1835095 xref: UMLS:C4280263 xref: UMLS:C4280620 xref: UMLS:C4280621 is_a: HP:0011081 ! Incisor macrodontia [Term] id: HP:0000676 name: Abnormality of the incisor alt_id: HP:0006340 def: "An abnormality of the Incisor tooth." [HPO:probinson] xref: UMLS:C4025833 is_a: HP:0000164 ! Abnormality of the dentition [Term] id: HP:0000677 name: Oligodontia alt_id: HP:0000702 def: "A developmental anomaly characterized by a reduced number of teeth, whereby more than 6 teeth are missing." [HPO:curators, pmid:19125428] comment: The diagnosis of oligodontia requires a radiograph, as is true for anodontia and for the other designation of tooth agenesis, hypodontia. The terms hypodontia and oligodontia are sometimes used interchangeably in the literature while on other occasions hypodontia is used for selective agenesis of six or less missing teeth while oligodontia is applied when there are more than six missing teeth. Tooth agenesis or oligodontia/hypodontia can be mistaken for delayed eruption and again a radiograph is needed for diagnosis. Absence of teeth may be congenital (tooth agenesis) or acquired. The incidence of congenital absence of teeth is different depending on the type and position of the tooth [Gorlin et al, 2001]. synonym: "Failure of development of more than six teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Missing more than six teeth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Number of teeth decreased by more than six" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Partial anodontia" EXACT [] xref: UMLS:C4082304 xref: UMLS:C4280619 is_a: HP:0009804 ! Reduced number of teeth [Term] id: HP:0000678 name: Dental crowding def: "Overlapping teeth within an alveolar ridge." [pmid:19125428] subset: hposlim_core synonym: "Crowded teeth" EXACT layperson [] synonym: "Dental crowding" EXACT layperson [] synonym: "Dental overcrowding" EXACT layperson [] synonym: "Inadequate arch length for tooth size" BROAD [ORCID:0000-0001-5889-4463] synonym: "Overcrowding of teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Tooth mass arch size discrepancy" BROAD [ORCID:0000-0001-5889-4463] synonym: "Tooth size discrepancy" BROAD layperson [ORCID:0000-0001-5889-4463] xref: MSH:D008310 xref: SNOMEDCT_US:12351004 xref: SNOMEDCT_US:699222000 xref: UMLS:C0040433 xref: UMLS:C1317785 xref: UMLS:C4280617 xref: UMLS:C4280618 is_a: HP:0000692 ! Misalignment of teeth [Term] id: HP:0000679 name: Taurodontia def: "Increased volume of dental pulp of permanent molar." [HPO:ibailleulforestier] comment: Body of the tooth and pulp chamber is enlarged. subset: hposlim_core synonym: "Large elongated pulp chamber" RELATED [ORCID:0000-0001-5889-4463] synonym: "Taurodont" EXACT [ORCID:0000-0001-5889-4463] synonym: "Taurodontism" EXACT [] xref: MSH:C536946 xref: SNOMEDCT_US:51744007 xref: UMLS:C0266039 xref: UMLS:C4280616 is_a: HP:0006479 ! Abnormality of the dental pulp is_a: HP:0006486 ! Abnormality of the dental root is_a: HP:0011071 ! Abnormality of permanent molar morphology [Term] id: HP:0000680 name: Delayed eruption of primary teeth def: "Delayed tooth eruption affecting the primary dentition." [HPO:ibailleulforestier] synonym: "Delayed eruption of baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Delayed eruption of deciduous teeth" EXACT [] synonym: "Delayed eruption of milk teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Delayed primary teeth eruption" EXACT [] synonym: "Late eruption of baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Late eruption of milk teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Late eruption of primary teeth" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1849538 is_a: HP:0000684 ! Delayed eruption of teeth is_a: HP:0006481 ! Abnormality of primary teeth [Term] id: HP:0000682 name: Abnormality of dental enamel alt_id: HP:0006322 def: "An abnormality of the dental enamel." [HPO:probinson] comment: The dental enamel is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite. subset: hposlim_core synonym: "Abnormal tooth enamel" EXACT layperson [] synonym: "Defective tooth enamel" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Dystrophic tooth enamel" NARROW [ORCID:0000-0001-5889-4463] synonym: "Enamel abnormalities" EXACT layperson [] synonym: "Enamel abnormality" EXACT layperson [] synonym: "Malformation of dental enamel" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of tooth enamel" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021800 xref: UMLS:C4280262 xref: UMLS:C4280615 is_a: HP:0011061 ! Abnormality of dental structure is_a: HP:3000050 ! Abnormality of odontoid tissue [Term] id: HP:0000683 name: Grayish enamel def: "A grey discoloration of the dental enamel." [HPO:ibailleulforestier] comment: Grey enamel may be seen in dentinogenesis imperfecta, but dentinogenesis imperfecta should be coded separately if present. synonym: "Gray colored tooth enamel" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Gray tooth shade" EXACT [ORCID:0000-0001-5889-4463] synonym: "Grayish enamel" EXACT layperson [] synonym: "Greyish enamel" EXACT layperson [] xref: UMLS:C1854783 is_a: HP:0000682 ! Abnormality of dental enamel is_a: HP:0011073 ! Abnormality of dental color [Term] id: HP:0000684 name: Delayed eruption of teeth alt_id: HP:0000686 alt_id: HP:0006294 alt_id: HP:0006314 alt_id: HP:0006328 def: "Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age." [HPO:ibailleulforestier, pmid:19125428] comment: This term should not be used in a patient with Gingival overgrowth. There are established norms for the timing of eruption in both deciduous and permanent teeth [Garn and Rohmann, [1966]; Lunt and Law, [1974]; McDonald et al. [2004]]. Eruption is defined by the appearance of a tooth that has pierced the gum. subset: hposlim_core synonym: "Delayed dental development" EXACT [] synonym: "Delayed dental eruption" EXACT [] synonym: "Delayed eruption" EXACT layperson [] synonym: "Delayed eruption of teeth" EXACT layperson [] synonym: "Delayed teeth eruption" EXACT layperson [] synonym: "Delayed tooth eruption" EXACT layperson [] synonym: "Eruption, delayed" EXACT layperson [] synonym: "Late eruption of teeth" EXACT layperson [] synonym: "Late tooth eruption" EXACT layperson [] xref: SNOMEDCT_US:5639000 xref: UMLS:C0239174 is_a: HP:0006292 ! Abnormality of dental eruption [Term] id: HP:0000685 name: Hypoplasia of teeth alt_id: HP:0000688 alt_id: HP:0006281 alt_id: HP:0006307 def: "Developmental hypoplasia of teeth." [HPO:ibailleulforestier] synonym: "Decreased size of teeth" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Hypoplastic teeth" EXACT [] synonym: "Underdevelopment of teeth" BROAD layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C0235357 xref: UMLS:C4280611 is_a: HP:0011061 ! Abnormality of dental structure [Term] id: HP:0000687 name: Widely spaced teeth def: "Increased spaces (diastemata) between most of the teeth in the same dental arch." [pmid:19125428] comment: Wide spacing can be secondary to increased room by an unusually large dental arch, microdontia or mixed primary and secondary dentition. It should be carefully noted that slight spacing between the primary teeth is normal, so experience in evaluation is important in determining this feature. This descriptor must be distinguished from Diastema. subset: hposlim_core synonym: "Generalized dental spacing" EXACT [ORCID:0000-0001-5889-4463] synonym: "Generalized spacing of teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Multiple diastemata" EXACT [] synonym: "Wide-spaced teeth" EXACT layperson [] synonym: "Widely spaced teeth" EXACT layperson [] synonym: "Widely-spaced teeth" EXACT layperson [] xref: UMLS:C1844813 is_a: HP:0000692 ! Misalignment of teeth [Term] id: HP:0000689 name: Dental malocclusion def: "Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns." [HPO:curators] synonym: "Angle class 2 malocclusion" NARROW [ORCID:0000-0001-5889-4463] synonym: "Angle class 3 malocclusion" NARROW [ORCID:0000-0001-5889-4463] synonym: "Bad bite" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Bilateral crossbite" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Bilateral crossbite malocclusion" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Incorrect relation between upper and lower dental arches" EXACT [ORCID:0000-0001-5889-4463] synonym: "Malalignment of upper and lower dental arches" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Malocclusion" EXACT [] synonym: "Malocclusion of teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Misalignment of upper and lower dental arches" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D008310 xref: SNOMEDCT_US:47944004 xref: SNOMEDCT_US:707598004 xref: UMLS:C0024636 xref: UMLS:C4280613 xref: UMLS:C4280614 is_a: HP:0000692 ! Misalignment of teeth [Term] id: HP:0000690 name: Agenesis of maxillary lateral incisor def: "Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor." [HPO:ibailleulforestier] synonym: "Absence of maxillary lateral incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Absence of upper lateral incisor" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Absent upper lateral incisors" EXACT [] synonym: "Failure of development of maxillary lateral incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing maxillary lateral incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Missing upper lateral incisor" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1849950 xref: UMLS:C4083046 is_a: HP:0200153 ! Agenesis of lateral incisor is_a: HP:0200160 ! Agenesis of maxillary incisor [Term] id: HP:0000691 name: Microdontia def: "Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth." [HPO:ibailleulforestier, pmid:19125428] comment: Standard reference has means and standard deviations by gender [Moyers et al, 1976]. It is easy to measure the width of teeth, for which reason the definition of microdontia can be made with reference to the width of the tooth. However, microdontia means that the overall size of the tooth is decreased. In microdontia, the gaps between the teeth, particularly the anterior upper and lower teeth, are increased, creating diastemata. This should be assessed and coded separately. subset: hposlim_core synonym: "Decreased size of tooth" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased width of tooth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Hypotrophic tooth" BROAD [ORCID:0000-0001-5889-4463] synonym: "Small teeth" EXACT [] synonym: "Small tooth" BROAD layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:32337007 xref: UMLS:C0240340 xref: UMLS:C4280611 xref: UMLS:C4280612 is_a: HP:0006482 ! Abnormality of dental morphology [Term] id: HP:0000692 name: Misalignment of teeth alt_id: HP:0000693 alt_id: HP:0001569 alt_id: HP:0006303 alt_id: HP:0006478 def: "Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth." [HPO:ibailleulforestier] synonym: "Abnormal dental position" EXACT layperson [] synonym: "Abnormal teeth spacing" EXACT layperson [] synonym: "Abnormality of alignment of teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of position of teeth" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of teeth spacing" EXACT layperson [] synonym: "Crooked teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Malaligned teeth" EXACT layperson [] synonym: "Malposition of teeth" EXACT layperson [] synonym: "Malpositioned teeth" EXACT layperson [] synonym: "Misalignment of teeth" EXACT layperson [] xref: UMLS:C1852504 xref: UMLS:C4280610 is_a: HP:0000164 ! Abnormality of the dentition [Term] id: HP:0000694 name: Shell teeth def: "A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin." [HPO:ibailleulforestier] synonym: "Teeth with dentinal dysplasia" EXACT [ORCID:0000-0001-5889-4463] synonym: "Teeth with thin dentin and large pulp chambers" EXACT [ORCID:0000-0001-5889-4463] synonym: "Teeth with type iii dentinogenesis imperfecta" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:67504007 xref: UMLS:C2981132 is_a: HP:0000703 ! Dentinogenesis imperfecta [Term] id: HP:0000695 name: Natal tooth def: "Erupted tooth or teeth at birth." [pmid:19125428] subset: hposlim_core synonym: "Born with teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Natal teeth" EXACT [] synonym: "Neonatal teeth" EXACT [] synonym: "Teeth present at birth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D009306 xref: SNOMEDCT_US:21995002 xref: SNOMEDCT_US:58748004 xref: UMLS:C0027443 is_a: HP:0006288 ! Advanced eruption of teeth [Term] id: HP:0000696 name: Delayed eruption of permanent teeth def: "Delayed tooth eruption affecting the secondary dentition." [HPO:ibailleulforestier] synonym: "Delayed eruption of adult teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Delayed eruption of permanent teeth" EXACT layperson [] synonym: "Delayed eruption of secondary dentition" EXACT [] synonym: "Delayed eruption of secondary teeth" EXACT [] synonym: "Delayed permanent dentition" EXACT [] xref: UMLS:C1849540 is_a: HP:0000684 ! Delayed eruption of teeth [Term] id: HP:0000698 name: Conical tooth def: "An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally." [HPO:ibailleulforestier] subset: hposlim_core synonym: "Cone shaped tooth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Conical teeth" RELATED [] synonym: "Conoid tooth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Peg shaped teeth" EXACT [] synonym: "Peg shaped tooth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Peg tooth" EXACT [] synonym: "Peg-shaped teeth" EXACT [] synonym: "Pointed tooth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Shark tooth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:29553002 xref: UMLS:C0266037 xref: UMLS:C4012359 is_a: HP:0006482 ! Abnormality of dental morphology [Term] id: HP:0000699 name: Diastema def: "Increased space between two adjacent teeth in the same dental arch." [pmid:19125428] comment: Usually there is contact between the lateral aspects of the permanent teeth, at their broadest point. Diastema can apply to any pair of teeth and the term should be modified by a descriptor of the involved teeth. This descriptor must be distinguished from Widely spaced teeth. subset: hposlim_core synonym: "Dental diastasis" EXACT [ORCID:0000-0001-5889-4463] synonym: "Dental diastema" EXACT [ORCID:0000-0001-5889-4463] synonym: "Diastasis of the teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Diastema of the teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Gap between teeth" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Gaps between teeth" BROAD layperson [ORCID:0000-0001-5889-4463] xref: MSH:D003970 xref: SNOMEDCT_US:35591002 xref: UMLS:C0011998 is_a: HP:0000692 ! Misalignment of teeth [Term] id: HP:0000700 name: Periapical bone loss def: "Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root)." [HPO:ibailleulforestier] comment: Periapical radiolucencies can be seen with periapical granuloma, cysts, ameloblastoma, odotogenic keratatoycsts, and other lesions. synonym: "Bone loss around tooth root" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Dark spot around tooth root on x-ray" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Periapical cyst" RELATED [ORCID:0000-0001-5889-4463] synonym: "Periapical granuloma" RELATED [ORCID:0000-0001-5889-4463] synonym: "Periapical lesion" EXACT [ORCID:0000-0001-5889-4463] synonym: "Periapical radiolucencies" RELATED [] synonym: "Periapical radiolucency" RELATED [] xref: MSH:D010484 xref: MSH:D011842 xref: SNOMEDCT_US:81407003 xref: SNOMEDCT_US:89988002 xref: UMLS:C0031029 xref: UMLS:C0034543 xref: UMLS:C1852169 xref: UMLS:C4280609 is_a: HP:0000164 ! Abnormality of the dentition [Term] id: HP:0000703 name: Dentinogenesis imperfecta def: "Developmental dysplasia of dentin." [HPO:ibailleulforestier] comment: This term is kept for convenience since it is often used to refer to the phenotype of discolored, fragile teeth in the medical literature. Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. subset: hposlim_core xref: MSH:D003811 xref: SNOMEDCT_US:196286005 xref: UMLS:C0011436 is_a: HP:0010299 ! Abnormality of dentin is_a: HP:3000050 ! Abnormality of odontoid tissue [Term] id: HP:0000704 name: Periodontitis alt_id: HP:0000165 alt_id: HP:0006301 def: "Inflammation of the periodontium." [HPO:ibailleulforestier] subset: hposlim_core synonym: "Gum disease" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Periodontal disease" BROAD [] synonym: "Pyorrhea" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:D005882 xref: MSH:D010510 xref: MSH:D010518 xref: SNOMEDCT_US:18718003 xref: SNOMEDCT_US:2556008 xref: SNOMEDCT_US:41565005 xref: UMLS:C0017563 xref: UMLS:C0031090 xref: UMLS:C0031099 is_a: HP:0000164 ! Abnormality of the dentition is_a: HP:0000168 ! Abnormality of the gingiva is_a: HP:0012649 ! Increased inflammatory response [Term] id: HP:0000705 name: Amelogenesis imperfecta alt_id: HP:0006284 alt_id: HP:0006310 alt_id: HP:0006325 alt_id: HP:0006327 alt_id: HP:0006331 def: "A developmental dysplasia of the dental enamel." [HPO:ibailleulforestier, pmid:18499550] comment: Amelogenesis imperfecta (AI) is a term for a clinically and genetically heterogeneous group of diseases that affect the dental enamel, occasionally in conjunction with other dental, oral and extraoral tissues. This term has often been used to describe the phenotype associated with AI, but for new annotations it is recommended to describe the individual manifestations. subset: hposlim_core xref: MSH:D000567 xref: SNOMEDCT_US:78494001 xref: UMLS:C0002452 is_a: HP:0000682 ! Abnormality of dental enamel [Term] id: HP:0000706 name: Unerupted tooth def: "The presence of one or more embedded tooth germs which have failed to erupt." [HPO:ibailleulforestier] synonym: "Failure of eruption of tooth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Pseudo-anodontia" EXACT [] synonym: "Pseudoanodontia" EXACT [] synonym: "Unerupted dentition" BROAD [ORCID:0000-0001-5889-4463] synonym: "Unerupted tooth" EXACT layperson [] xref: SNOMEDCT_US:109542004 xref: UMLS:C1290587 is_a: HP:0006292 ! Abnormality of dental eruption [Term] id: HP:0000707 name: Abnormality of the nervous system alt_id: HP:0001333 alt_id: HP:0006987 def: "An abnormality of the nervous system." [HPO:probinson] comment: The nervous system comprises the neuraxis (brain, spinal cord, and ventricles), the autonomic nervous system, the enteric nervous system, and the peripheral nervous system. synonym: "Abnormality of the nervous system" EXACT layperson [] synonym: "Brain and/or spinal cord issue" BROAD layperson [] synonym: "Neurologic abnormalities" EXACT layperson [] synonym: "Neurological abnormality" EXACT layperson [] xref: MSH:D009421 xref: SNOMEDCT_US:88425004 xref: UMLS:C0497552 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000708 name: Behavioral abnormality alt_id: HP:0000715 alt_id: HP:0002368 alt_id: HP:0002456 def: "An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities." [HPO:probinson] synonym: "Behavioral abnormality" EXACT layperson [] synonym: "Behavioral changes" EXACT layperson [] synonym: "Behavioral disorders" EXACT layperson [] synonym: "Behavioral disturbances" EXACT layperson [] synonym: "Behavioral problems" EXACT layperson [] synonym: "Behavioral symptoms" RELATED layperson [] synonym: "Behavioral/psychiatric abnormalities" EXACT layperson [] synonym: "Behavioural/Psychiatric abnormality" EXACT layperson [] synonym: "Psychiatric disorders" EXACT layperson [] synonym: "Psychiatric disturbances" EXACT layperson [] xref: MSH:D000066553 xref: MSH:D001526 xref: SNOMEDCT_US:25786006 xref: SNOMEDCT_US:277843001 xref: UMLS:C0004941 xref: UMLS:C0233514 is_a: HP:0012638 ! Abnormality of nervous system physiology [Term] id: HP:0000709 name: Psychosis def: "A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs." [HPO:curators] synonym: "Psychosis" EXACT layperson [] xref: MSH:D011618 xref: SNOMEDCT_US:69322001 xref: UMLS:C0033975 is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0000710 name: Hyperorality def: "A tendency or compulsion to examine objects by mouth." [HPO:sdoelken] synonym: "Hyperoralia" EXACT [] xref: UMLS:C1838320 is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0000711 name: Restlessness def: "A state of unease characterized by diffuse motor activity or motion subject to limited control, nonproductive or disorganized behavior, and subjective distress." [PMID:28332736] synonym: "Restlessness" EXACT layperson [] xref: SNOMEDCT_US:162221009 xref: UMLS:C3887611 is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0000712 name: Emotional lability alt_id: HP:0008766 def: "Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances." [PMID:23902698] synonym: "Emotional instability" EXACT layperson [] xref: SNOMEDCT_US:18963009 xref: UMLS:C0085633 is_a: HP:0031466 ! Impairment in personality functioning [Term] id: HP:0000713 name: Agitation def: "A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension." [PMID:29630205] xref: SNOMEDCT_US:24199005 xref: UMLS:C0085631 is_a: HP:0000711 ! Restlessness [Term] id: HP:0000716 name: Depressivity def: "Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior." [HPO:probinson, PMID:23902698] synonym: "Depression" EXACT layperson [] synonym: "Depressive disorder" RELATED [] xref: MSH:D003866 xref: SNOMEDCT_US:21061000119107 xref: SNOMEDCT_US:35489007 xref: SNOMEDCT_US:78667006 xref: UMLS:C0011581 is_a: HP:0031466 ! Impairment in personality functioning [Term] id: HP:0000717 name: Autism def: "Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV)." [DDD:hvfirth] comment: The term refers to the diagnosis of autism and is left for convenience. However, it is preferable to annotate the exact phenotypic abnormalities rather than merely the diagnostic category autism. synonym: "Autism" EXACT layperson [] xref: MSH:D001321 xref: SNOMEDCT_US:408856003 xref: SNOMEDCT_US:408857007 xref: SNOMEDCT_US:43614003 xref: UMLS:C0004352 is_a: HP:0000729 ! Autistic behavior [Term] id: HP:0000718 name: Aggressive behavior def: "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators] synonym: "Aggression" EXACT layperson [] synonym: "Aggressive behavior" EXACT layperson [] synonym: "Aggressive behaviour" EXACT layperson [] synonym: "Aggressiveness" EXACT layperson [] synonym: "physical aggression" RELATED layperson [] xref: MSH:D000374 xref: SNOMEDCT_US:248004009 xref: SNOMEDCT_US:61372001 xref: UMLS:C0001807 xref: UMLS:C0424323 xref: UMLS:C1457883 is_a: HP:0006919 ! Abnormal aggressive, impulsive or violent behavior [Term] id: HP:0000719 name: Inappropriate behavior synonym: "Inappropriate behavior" EXACT layperson [] xref: SNOMEDCT_US:112082005 xref: UMLS:C0233522 is_a: HP:0031466 ! Impairment in personality functioning [Term] id: HP:0000720 name: Mood swings def: "An exaggeration of emotional affects such as laughing crying, or yawning beyond what the person feels." [HPO:curators] synonym: "Mood swings" EXACT layperson [] xref: SNOMEDCT_US:18963009 xref: UMLS:C0085633 is_a: HP:0100851 ! Abnormal emotion/affect behavior [Term] id: HP:0000721 name: Lack of spontaneous play synonym: "Lack of spontaneous play" EXACT layperson [] xref: UMLS:C1837650 is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0000722 name: Obsessive-compulsive behavior def: "Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV)." [HPO:probinson] synonym: "Obsessive compulsive behavior" EXACT layperson [] synonym: "Obsessive compulsive disorder" RELATED layperson [] synonym: "Obsessive-compulsive behavior" EXACT layperson [] synonym: "Obsessive-compulsive disorder" RELATED layperson [] synonym: "OCD" RELATED layperson [] xref: MSH:D003192 xref: MSH:D009771 xref: SNOMEDCT_US:12479006 xref: SNOMEDCT_US:191736004 xref: UMLS:C0028768 xref: UMLS:C0600104 is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0000723 name: Restrictive behavior def: "Behavior characterized by an abnormal limitation to few interests and activities." [HPO:probinson] synonym: "Restricted behavior" EXACT [] synonym: "Restrictive behavior, interests, and activities" RELATED [HPO:skoehler] synonym: "Restrictive behaviour" EXACT [] xref: UMLS:C2675334 xref: UMLS:C4021799 is_a: HP:0000729 ! Autistic behavior [Term] id: HP:0000725 name: Psychotic episodes synonym: "Psychotic episodes" EXACT layperson [] xref: UMLS:C0338614 is_a: HP:0000709 ! Psychosis [Term] id: HP:0000726 name: Dementia alt_id: HP:0002274 alt_id: HP:0007122 alt_id: HP:0007150 alt_id: HP:0007283 def: "A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior." [HPO:probinson] synonym: "Dementia" EXACT layperson [] synonym: "Dementia, progressive" EXACT layperson [] synonym: "Progressive dementia" EXACT layperson [] xref: MSH:D003704 xref: SNOMEDCT_US:52448006 xref: UMLS:C0497327 is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0000727 name: Frontal lobe dementia xref: SNOMEDCT_US:278857002 xref: UMLS:C0338455 is_a: HP:0000726 ! Dementia [Term] id: HP:0000728 name: Impaired ability to form peer relationships xref: UMLS:C1837649 is_a: HP:0000735 ! Impaired social interactions [Term] id: HP:0000729 name: Autistic behavior def: "Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior." [HPO:probinson, PMID:28879490] comment: This term can be used to refer to autism spectrum disorder as a phenotypic feature that can be a component of a disease. Autism spectrum disorder range from a severe form, called autistic disorder, to a milder form, Asperger syndrome. synonym: "ASD" EXACT HP:0045077 [] synonym: "Autism spectrum disorder" RELATED layperson [] synonym: "Autism spectrum disorders" RELATED layperson [HPO:skoehler] synonym: "Autistic behaviors" RELATED [HPO:skoehler] synonym: "Autistic behaviour" EXACT HP:0045076 [] synonym: "Pervasive developmental disorder" EXACT [] xref: MSH:D000067877 xref: UMLS:C0856975 xref: UMLS:C1510586 is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0000732 name: Inflexible adherence to routines or rituals xref: UMLS:C1837653 is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0000733 name: Stereotypy alt_id: HP:0008758 alt_id: HP:0008759 def: "A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral." [HPO:probinson] comment: An abnormality of behavior characterized by one or more stereotyped and restricted patterns of behavior such as inflexible adherence to specific, nonfunctional routines or rituals, stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements), or persistent preoccupation with parts of objects. The behaviour does not serve an observable goal. In general the movements are not aimed at the environment, but at the person itself. Stereotypical behaviour is seen especially in children with sensory, intellectual and/or cognitive handicaps. synonym: "Repetitive movements" EXACT layperson [ORCID:0000-0001-9114-8737] synonym: "Repetitive or self-injurious behavior" EXACT layperson [] synonym: "Stereotyped behavior" EXACT [] synonym: "Stereotyped behaviors" RELATED [HPO:skoehler] synonym: "Stereotyped, repetitive behaviour" EXACT [] synonym: "Stereotypic behavior" EXACT [] synonym: "Stereotypic behaviors" EXACT [] synonym: "Stereotypical motor behaviors" EXACT [] synonym: "Sterotyped behavior" EXACT [] xref: MSH:D013239 xref: MSH:D019956 xref: SNOMEDCT_US:5507002 xref: SNOMEDCT_US:84328007 xref: UMLS:C0038271 xref: UMLS:C0038273 is_a: HP:0004305 ! Involuntary movements [Term] id: HP:0000734 name: Disinhibition def: "A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment." [HPO:sdoelken] comment: Disinhibition affects motor, instinctual, emotional, cognitive and perceptual aspects with signs and symptoms similar to the diagnostic criteria for mania. Hypersexuality, hyperphagia, and aggressive outbursts are indicative of disinhibited instinctual drives. synonym: "Disinhibition" EXACT layperson [] xref: SNOMEDCT_US:247977003 xref: UMLS:C0424296 is_a: HP:0031466 ! Impairment in personality functioning [Term] id: HP:0000735 name: Impaired social interactions def: "Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships." [HPO:probinson] synonym: "Impaired social interaction" EXACT layperson [] synonym: "Impaired social interactions" EXACT layperson [] synonym: "Poor social interactions" EXACT layperson [] xref: MSH:D000067404 xref: SNOMEDCT_US:88598008 xref: UMLS:C0150080 is_a: HP:0000729 ! Autistic behavior is_a: HP:0012433 ! Abnormal social behavior [Term] id: HP:0000736 name: Short attention span def: "Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder." [HPO:curators] synonym: "Easily distracted" BROAD layperson [] synonym: "Poor attention span" EXACT layperson [] synonym: "Problem paying attention" EXACT layperson [] synonym: "Short attention span" EXACT layperson [] xref: SNOMEDCT_US:247762003 xref: UMLS:C0262630 is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0000737 name: Irritability synonym: "Irritability" EXACT layperson [] synonym: "Irritable" EXACT layperson [] xref: UMLS:C2700617 is_a: HP:0100851 ! Abnormal emotion/affect behavior [Term] id: HP:0000738 name: Hallucinations def: "Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space." [HPO:sdoelken] synonym: "Hallucination" EXACT layperson [] synonym: "Hallucinations" EXACT layperson [] synonym: "Sensory hallucination" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D006212 xref: SNOMEDCT_US:7011001 xref: UMLS:C0018524 xref: UMLS:C0235153 is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0000739 name: Anxiety def: "Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control." [HPO:probinson, PMID:23902698] synonym: "Anxiety" EXACT layperson [] synonym: "Anxiety disease" RELATED layperson [] synonym: "Anxiousness" EXACT [] synonym: "Excessive, persistent worry and fear" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:D001007 xref: SNOMEDCT_US:48694002 xref: UMLS:C0003467 xref: UMLS:C4020884 is_a: HP:0100852 ! Abnormal fear/anxiety-related behavior [Term] id: HP:0000740 name: Episodic paroxysmal anxiety def: "Recurrent attacks of severe anxiety, whose occurence is not restricted to any particular situation or set of circumstances and is therefore unpredictable." [] comment: An anxiety attack may manifest with one or more of the following symptoms: (i) breathing difficulty; (ii) palpitations; (iii) a feeling of unreality; (iv) pains or tightness in the chest; (v) trembling, dizziness or feeling unsteady; (vi) sweating; (vii) a feeling of faintness; (viii) a fear of dying; (ix) a feeling of losing control; (x) tingling in hands and feet (parasthesiae); (xi) choking or smothering feelings. xref: UMLS:C1854339 is_a: HP:0000739 ! Anxiety [Term] id: HP:0000741 name: Apathy synonym: "Lack of feeling, emotion, interest" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D057565 xref: SNOMEDCT_US:20602000 xref: UMLS:C0085632 is_a: HP:0000745 ! Diminished motivation [Term] id: HP:0000742 name: Self-mutilation synonym: "Deliberate self-harm" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Self mutilation" EXACT layperson [] synonym: "Self-mutilation" EXACT layperson [] xref: MSH:D012652 xref: SNOMEDCT_US:130968006 xref: UMLS:C0036601 is_a: HP:0100716 ! Self-injurious behavior [Term] id: HP:0000743 name: Frontal release signs alt_id: HP:0006911 def: "Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes." [HPO:sdoelken] synonym: "Frontal release reflexes" EXACT [] xref: UMLS:C1833297 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0000744 name: Low frustration tolerance def: "The feeling of frustration can be defined as an emotional reaction that occurs if a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration characterized by crying or temper tantrums (in children) or aggressive or other undesirable behaviors." [PMID:21461367] xref: UMLS:C0548883 is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0000745 name: Diminished motivation def: "A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action." [HPO:probinson, pmid:16030444] synonym: "Diminished motivation" EXACT layperson [] synonym: "Lack of motivation" EXACT layperson [] xref: SNOMEDCT_US:277521002 xref: UMLS:C0456814 is_a: HP:0100851 ! Abnormal emotion/affect behavior [Term] id: HP:0000746 name: Delusions def: "A belief that is pathological and is held despite evidence to the contrary." [HPO:sdoelken] synonym: "Delusions" EXACT layperson [] xref: MSH:D003702 xref: SNOMEDCT_US:2073000 xref: UMLS:C0011253 is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0000748 name: Inappropriate laughter synonym: "Inappropriate laughter" EXACT layperson [] xref: SNOMEDCT_US:247985007 xref: UMLS:C0424304 is_a: HP:0000719 ! Inappropriate behavior [Term] id: HP:0000749 name: Paroxysmal bursts of laughter synonym: "Paroxysmal laughter" EXACT [] xref: UMLS:C1839749 is_a: HP:0000748 ! Inappropriate laughter [Term] id: HP:0000750 name: Delayed speech and language development alt_id: HP:0002116 alt_id: HP:0002117 alt_id: HP:0002336 alt_id: HP:0002399 alt_id: HP:0002498 alt_id: HP:0006936 alt_id: HP:0007004 alt_id: HP:0007127 alt_id: HP:0007170 alt_id: HP:0007172 def: "A degree of language development that is significantly below the norm for a child of a specified age." [HPO:probinson] comment: Language delay can be characterized by a failure to meet the developmental milestones for language development, an inability to follow directions, or slow or incomprehensible speech after the age of three years, as well as with severe problems with syntax or articulation. synonym: "Deficiency of speech development" EXACT layperson [] synonym: "Delayed language development" EXACT layperson [] synonym: "Delayed speech" EXACT layperson [HPO:skoehler] synonym: "Delayed speech acquisition" EXACT layperson [] synonym: "Delayed speech and language development" EXACT layperson [] synonym: "Delayed speech development" EXACT layperson [] synonym: "Impaired speech and language development" EXACT layperson [] synonym: "Impaired speech development" EXACT layperson [] synonym: "Language delay" EXACT layperson [] synonym: "Language delayed" EXACT layperson [] synonym: "Language development deficit" EXACT layperson [] synonym: "Late-onset speech development" EXACT layperson [] synonym: "Poor language development" EXACT layperson [] synonym: "Poor speech acquisition" RELATED layperson [HPO:skoehler] synonym: "Poor speech development" RELATED layperson [HPO:skoehler] synonym: "Speech and language delay" EXACT layperson [] synonym: "Speech and language difficulties" EXACT layperson [] synonym: "Speech delay" EXACT layperson [] synonym: "Speech difficulties" RELATED layperson [] xref: MSH:D007805 xref: SNOMEDCT_US:162294008 xref: SNOMEDCT_US:229721007 xref: SNOMEDCT_US:29164008 xref: SNOMEDCT_US:62415009 xref: UMLS:C0023012 xref: UMLS:C0233715 xref: UMLS:C0241210 xref: UMLS:C0454644 is_a: HP:0012758 ! Neurodevelopmental delay [Term] id: HP:0000751 name: Personality changes def: "An abnormal shift in patterns of thinking, acting, or feeling." [HPO:probinson] comment: This term refers to changes in personality that are perceived as being abnormal. It does not refer to the usual gradual personality changes that tend to accompany aging and certain life situations. synonym: "Personality change" EXACT layperson [] synonym: "Personality changes" EXACT layperson [] xref: SNOMEDCT_US:102943000 xref: SNOMEDCT_US:192073007 xref: UMLS:C0240735 is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0000752 name: Hyperactivity alt_id: HP:0008764 def: "Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate." [ORCID:0000-0002-6713-2943] synonym: "Hyperactive behavior" EXACT [] synonym: "More active than typical" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D006948 xref: SNOMEDCT_US:44548000 xref: UMLS:C0424295 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0000753 name: Autism with high cognitive abilities xref: UMLS:C4025832 is_a: HP:0000729 ! Autistic behavior [Term] id: HP:0000756 name: Agoraphobia def: "A type of anxiety disorder characterized by avoidance of public places, especially where crowds gather." [HPO:probinson] synonym: "Fear of open spaces" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D000379 xref: SNOMEDCT_US:247830007 xref: SNOMEDCT_US:70691001 xref: UMLS:C0001818 is_a: HP:0100852 ! Abnormal fear/anxiety-related behavior [Term] id: HP:0000757 name: Lack of insight synonym: "Lack of insight" EXACT layperson [] xref: SNOMEDCT_US:24340004 xref: UMLS:C0233824 is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0000758 name: Impaired use of nonverbal behaviors def: "Reduced ability to use nonverbal behavior for communication, such as eye-to-eye gaze, facial expression, body posture, and gestures." [HPO:probinson] synonym: "Impaired use of nonverbal behaviors" EXACT layperson [] synonym: "Impaired use of nonverbal behaviours" EXACT layperson [] xref: UMLS:C4021798 is_a: HP:0000735 ! Impaired social interactions [Term] id: HP:0000759 name: Abnormal peripheral nervous system morphology alt_id: HP:0003483 def: "A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system)." [HPO:probinson] comment: The peripheral nervous system is divided into autonomic and somatic components, which both include afferent (sensory) and efferent (motor) nerves. synonym: "Abnormal peripheral nervous system morphology" EXACT layperson [] synonym: "Peripheral nervous system disease" RELATED [] xref: MSH:D010523 xref: SNOMEDCT_US:302226006 xref: SNOMEDCT_US:42658009 xref: UMLS:C0031117 xref: UMLS:C4025831 is_a: HP:0012639 ! Abnormality of nervous system morphology [Term] id: HP:0000762 name: Decreased nerve conduction velocity alt_id: HP:0000761 alt_id: HP:0007118 alt_id: HP:0007218 alt_id: HP:0007231 def: "A reduction in the speed at which electrical signals propagate along the axon of a neuron." [HPO:probinson] comment: Nerve conduction velocity is usually measured with surface electrodes placed on the skin over nerves at various locations. Following stimulation at one electrode, the speed at which the signal is propagated to other electrodes is recorded. Abnormal values may suggest demyelination, a conduction block, or axonopathy. synonym: "Decreased NCV" EXACT [] synonym: "Decreased nerve conduction velocities" EXACT [] synonym: "Delayed nerve conduction velocity" EXACT [] synonym: "Reduced nerve conduction velocities" EXACT [] synonym: "Slow nerve conduction velocity" EXACT [] synonym: "Slowed nerve conduction velocities" EXACT [] xref: UMLS:C1857640 is_a: HP:0040129 ! Abnormal nerve conduction velocity [Term] id: HP:0000763 name: Sensory neuropathy alt_id: HP:0003410 alt_id: HP:0006815 alt_id: HP:0007043 alt_id: HP:0007142 def: "Peripheral neuropathy affecting the sensory nerves." [HPO:curators] synonym: "Damage to nerves that sense feeling" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Peripheral sensory neuropathy" EXACT [] xref: SNOMEDCT_US:95662005 xref: UMLS:C0151313 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0000764 name: Peripheral axonal degeneration alt_id: HP:0006787 alt_id: HP:0006876 alt_id: HP:0007304 def: "Progressive deterioration of peripheral axons." [HPO:probinson] comment: This finding is typically demonstrated by nerve biopsy. xref: UMLS:C4025830 is_a: HP:0000759 ! Abnormal peripheral nervous system morphology [Term] id: HP:0000765 name: Abnormality of the thorax alt_id: HP:0100655 def: "Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs)." [HPO:curators] synonym: "Abnormality of the chest" EXACT layperson [] xref: UMLS:C4021797 is_a: HP:0009121 ! Abnormal axial skeleton morphology [Term] id: HP:0000766 name: Abnormality of the sternum alt_id: HP:0000780 alt_id: HP:0006586 alt_id: HP:0006594 alt_id: HP:0006605 alt_id: HP:0006630 alt_id: HP:0006708 def: "An anomaly of the sternum, also known as the breastbone." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the sternum" EXACT layperson [] synonym: "Pectus carinatum or pectus excavatum" EXACT [] synonym: "Pectus deformities" EXACT [] synonym: "Pectus deformity" EXACT [] synonym: "Pectus excavatum or carinatum" EXACT [] synonym: "Pectus excavatum or pectus carinatum" EXACT [] synonym: "Pectus excavatum/carinatum" EXACT [] synonym: "Sternal anomalies" EXACT layperson [] xref: UMLS:C1860493 is_a: HP:0000765 ! Abnormality of the thorax [Term] id: HP:0000767 name: Pectus excavatum alt_id: HP:0006613 alt_id: HP:0006617 def: "A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance." [HPO:probinson] subset: hposlim_core synonym: "Funnel chest" EXACT layperson [] xref: SNOMEDCT_US:391987005 xref: UMLS:C2051831 is_a: HP:0000766 ! Abnormality of the sternum [Term] id: HP:0000768 name: Pectus carinatum alt_id: HP:0006639 def: "A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum." [HPO:probinson] subset: hposlim_core synonym: "Pigeon chest" EXACT layperson [https://en.wikipedia.org/wiki/pectus_carinatum, ORCID:0000-0001-5208-3432] xref: MSH:D066166 xref: SNOMEDCT_US:205101001 xref: UMLS:C0158731 is_a: HP:0000766 ! Abnormality of the sternum [Term] id: HP:0000769 name: Abnormality of the breast def: "An abnormality of the breast." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the breast" EXACT layperson [] xref: UMLS:C4025829 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000771 name: Gynecomastia alt_id: HP:0000770 def: "Abnormal development of large mammary glands in males resulting in breast enlargement." [HPO:probinson] subset: hposlim_core synonym: "Enlarged male breast" EXACT layperson [orcid.org/0000-0002-6548-5200] synonym: "Gynaecomastia" EXACT [] xref: MSH:D006177 xref: SNOMEDCT_US:4754008 xref: UMLS:C0018418 is_a: HP:0031093 ! Abnormal breast morphology [Term] id: HP:0000772 name: Abnormality of the ribs alt_id: HP:0006618 def: "An anomaly of the rib." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the ribs" EXACT layperson [] synonym: "Rib abnormalities" EXACT layperson [] synonym: "Rib anomalies" EXACT [] xref: UMLS:C1842083 is_a: HP:0001547 ! Abnormality of the rib cage [Term] id: HP:0000773 name: Short ribs alt_id: HP:0000899 alt_id: HP:0000908 alt_id: HP:0009750 def: "Reduced rib length." [HPO:probinson] synonym: "Hypoplastic ribs" EXACT [] synonym: "Rib hypoplasia" EXACT [] synonym: "Short ribs" EXACT layperson [] xref: SNOMEDCT_US:249696007 xref: UMLS:C0426817 is_a: HP:0006712 ! Aplasia/Hypoplasia of the ribs [Term] id: HP:0000774 name: Narrow chest alt_id: HP:0000909 alt_id: HP:0005252 alt_id: HP:0006588 def: "Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder." [HPO:probinson] synonym: "Low chest circumference" EXACT layperson [] synonym: "Narrow chest" EXACT layperson [] synonym: "Narrow shoulders" EXACT layperson [] synonym: "Narrow thorax" EXACT [] synonym: "Reduced anterior-posterior chest diameter" EXACT [] xref: SNOMEDCT_US:249671009 xref: UMLS:C0426790 is_a: HP:0005257 ! Thoracic hypoplasia [Term] id: HP:0000775 name: Abnormality of the diaphragm alt_id: HP:0005204 def: "Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity." [HPO:probinson] synonym: "Abnormality of the diaphragm" EXACT layperson [] synonym: "Diaphragm issues" EXACT layperson [] synonym: "Diaphragmatic defect" EXACT layperson [] xref: UMLS:C1848873 is_a: HP:0003011 ! Abnormality of the musculature [Term] id: HP:0000776 name: Congenital diaphragmatic hernia alt_id: HP:0006604 def: "The presence of a hernia of the diaphragm present at birth." [HPO:probinson] comment: Diaphragmatic hernia is the result of a developmental defect causing an abnormal opening in the diaphragm, through which abdominal organs (stomach, spleen, liver, and intestines) can protrude into the thoracic cavity. This usually causes respiratory distress in the newborn period. synonym: "Diaphragmatic hernia" EXACT [] xref: MSH:D065630 xref: SNOMEDCT_US:17190001 xref: UMLS:C0235833 is_a: HP:0000775 ! Abnormality of the diaphragm is_a: HP:0100790 ! Hernia [Term] id: HP:0000777 name: Abnormality of the thymus def: "Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation." [HPO:probinson] synonym: "Abnormality of the thymus" EXACT layperson [] synonym: "Thymic hypoplasia" EXACT [] xref: SNOMEDCT_US:93297002 xref: UMLS:C0262650 xref: UMLS:C0685891 is_a: HP:0000818 ! Abnormality of the endocrine system is_a: HP:0100763 ! Abnormality of the lymphatic system [Term] id: HP:0000778 name: Hypoplasia of the thymus def: "Underdevelopment of the thymus." [HPO:curators] synonym: "Small thymus" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Thymus hypoplasia" EXACT [] xref: SNOMEDCT_US:93297002 xref: UMLS:C0685891 xref: UMLS:C4228227 is_a: HP:0010515 ! Aplasia/Hypoplasia of the thymus [Term] id: HP:0000782 name: Abnormality of the scapula def: "Any abnormality of the scapula, also known as the shoulder blade." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the shoulder blade" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025828 is_a: HP:0000765 ! Abnormality of the thorax [Term] id: HP:0000786 name: Primary amenorrhea xref: SNOMEDCT_US:8913004 xref: UMLS:C0232939 is_a: HP:0000141 ! Amenorrhea [Term] id: HP:0000787 name: Nephrolithiasis alt_id: HP:0000102 def: "The presence of calculi (stones) in the kidneys." [HPO:probinson] comment: Urinary stone disease is caused by supersaturation of the urine by stone forming substances including calcium, oxalate, and uric acid. Crystals or foreign bodies can act as a nidus for further stone formation. THe resulting kidney stones (calculi) lead to symptoms if they become impacted in the ureter. synonym: "Kidney stones" EXACT layperson [] synonym: "Renal calculi" EXACT [] synonym: "Renal stones" EXACT [] xref: MSH:D053040 xref: UMLS:C0392525 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000789 name: Infertility synonym: "Infertility" EXACT layperson [] xref: MSH:D007246 xref: SNOMEDCT_US:15296000 xref: SNOMEDCT_US:8619003 xref: UMLS:C0021359 is_a: HP:0000144 ! Decreased fertility [Term] id: HP:0000790 name: Hematuria def: "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators] synonym: "Blood in urine" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "High urine occult blood" BROAD layperson [] xref: MSH:D006417 xref: SNOMEDCT_US:34436003 xref: SNOMEDCT_US:53298000 xref: UMLS:C0018965 is_a: HP:0012211 ! Abnormal renal physiology is_a: HP:0012614 ! Abnormal urine cytology [Term] id: HP:0000791 name: Uric acid nephrolithiasis def: "The presence of uric acid-containing calculi (stones) in the kidneys." [HPO:probinson] synonym: "Uric acid stones" EXACT layperson [] synonym: "Uric acid urolithiasis" EXACT [] xref: SNOMEDCT_US:267441009 xref: UMLS:C0403719 is_a: HP:0000787 ! Nephrolithiasis [Term] id: HP:0000793 name: Membranoproliferative glomerulonephritis def: "A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity" [PMID:19908070] synonym: "Mesangiocapillary glomerulonephritis" EXACT [] synonym: "MPGN" EXACT HP:0045077 [] xref: MSH:D015432 xref: SNOMEDCT_US:80321008 xref: UMLS:C0017662 is_a: HP:0000099 ! Glomerulonephritis [Term] id: HP:0000794 name: IgA deposition in the glomerulus def: "The presence of immunoglobulin A deposits in the glomerulus." [Eurenomics:ewuehl] synonym: "IgA nephropathy" RELATED [] xref: MSH:D005922 xref: SNOMEDCT_US:236407003 xref: SNOMEDCT_US:68779003 xref: UMLS:C0017661 xref: UMLS:C4025827 is_a: HP:0030949 ! Glomerular deposits [Term] id: HP:0000795 name: Abnormality of the urethra def: "An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body." [HPO:probinson] synonym: "Urethra issue" EXACT layperson [] xref: UMLS:C4025826 is_a: HP:0000032 ! Abnormality of male external genitalia is_a: HP:0010936 ! Abnormality of the lower urinary tract [Term] id: HP:0000796 name: Urethral obstruction def: "Obstruction of the flow of urine through the urethra." [HPO:probinson] xref: MSH:D014524 xref: SNOMEDCT_US:95588004 xref: UMLS:C0041972 is_a: HP:0000795 ! Abnormality of the urethra [Term] id: HP:0000798 name: Oligospermia def: "Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen." [HPO:probinson] synonym: "Low sperm count" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D009845 xref: UMLS:C0028960 is_a: HP:0008669 ! Abnormal spermatogenesis [Term] id: HP:0000799 name: Renal steatosis def: "Abnormal fat accumulation in the kidneys." [HPO:probinson] synonym: "Fatty kidney" EXACT layperson [] xref: UMLS:C4021796 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000800 name: Cystic renal dysplasia alt_id: HP:0008737 synonym: "Bilateral cystic dysplasia" EXACT [] synonym: "Renal cystic dysplasia" EXACT [] synonym: "Renal dysplasia, cystic" EXACT [] xref: UMLS:C1834931 is_a: HP:0000107 ! Renal cyst [Term] id: HP:0000802 name: Impotence def: "Inability to develop or maintain an erection of the penis." [HPO:probinson] synonym: "Difficulty getting a full erection" EXACT layperson [] synonym: "Difficulty getting an erection" EXACT layperson [] synonym: "Erectile dysfunction" EXACT layperson [] xref: MSH:D007172 xref: SNOMEDCT_US:397803000 xref: UMLS:C0242350 is_a: HP:0012874 ! Abnormal male reproductive system physiology is_a: HP:0100639 ! Erectile abnormalities [Term] id: HP:0000803 name: Renal cortical cysts def: "Cysts of the cortex of the kidney." [Eurenomics:fschaefer] synonym: "Cortical cysts" EXACT [] xref: UMLS:C1969144 is_a: HP:0000107 ! Renal cyst is_a: HP:0011035 ! Abnormal renal cortex morphology [Term] id: HP:0000804 name: Xanthine nephrolithiasis def: "The presence of xanthine-containing calculi (stones) in the kidneys." [HPO:probinson] synonym: "Urinary xanthine stones" EXACT [] synonym: "Xanthine stones" EXACT [] xref: UMLS:C1848431 is_a: HP:0000787 ! Nephrolithiasis [Term] id: HP:0000805 name: Enuresis def: "Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible." [HPO:sdoelken] xref: MSH:D004775 xref: SNOMEDCT_US:8009008 xref: UMLS:C0014394 is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000807 name: Glandular hypospadias xref: SNOMEDCT_US:204891000 xref: SNOMEDCT_US:429631000124104 xref: UMLS:C0452168 is_a: HP:0000047 ! Hypospadias [Term] id: HP:0000808 name: Penoscrotal hypospadias def: "A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum." [HPO:probinson] xref: SNOMEDCT_US:204889008 xref: UMLS:C0452147 is_a: HP:0000047 ! Hypospadias [Term] id: HP:0000809 name: Urinary tract atresia def: "Congenital absence of the normal opening of a structure of the urinary tract." [HPO:probinson] xref: UMLS:C1389003 is_a: HP:0000079 ! Abnormality of the urinary system created_by: peter creation_date: 2008-02-27T04:07:00Z [Term] id: HP:0000811 name: Abnormal external genitalia synonym: "Abnormal external genitalia" EXACT layperson [] xref: UMLS:C4025825 is_a: HP:0012243 ! Abnormal reproductive system morphology [Term] id: HP:0000812 name: Abnormal internal genitalia def: "An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male)." [HPO:probinson] synonym: "Abnormal internal genitalia" EXACT layperson [] xref: UMLS:C4025824 is_a: HP:0012243 ! Abnormal reproductive system morphology [Term] id: HP:0000813 name: Bicornuate uterus alt_id: HP:0008735 def: "The presence of a bicornuate uterus." [HPO:probinson] comment: Uterus with two horn-shaped branches. synonym: "Heart shaped uterus" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Heart-shaped uterus" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Uterus bicornis" EXACT [] xref: SNOMEDCT_US:31401003 xref: UMLS:C0266387 is_a: HP:0031105 ! Abnormal uterus morphology [Term] id: HP:0000815 name: Hypergonadotropic hypogonadism alt_id: HP:0008679 def: "Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay." [HPO:curators] synonym: "Hypergonadotrophic hypogonadism" EXACT [] synonym: "Primary hypogonadism" EXACT [] xref: MSH:D007006 xref: SNOMEDCT_US:370999003 xref: UMLS:C0948896 is_a: HP:0000135 ! Hypogonadism [Term] id: HP:0000816 name: Abnormality of Krebs cycle metabolism def: "An abnormality of the tricarboxylic acid cycle." [HPO:probinson] synonym: "Abnormality of citric acid cycle" EXACT [HPO:curators] synonym: "Abnormality of the tricarboxylic cycle" EXACT [] xref: UMLS:C4021795 is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity created_by: peter creation_date: 2008-03-17T12:58:00Z [Term] id: HP:0000817 name: Poor eye contact def: "Difficulty in looking at another person in the eye." [HPO:probinson] comment: Eye contact, define as the meeting of the gaze between two people during a conversation, is an important form of nonverbal communication. synonym: "Poor eye contact" EXACT layperson [] xref: SNOMEDCT_US:412786000 xref: UMLS:C1445953 is_a: HP:0000735 ! Impaired social interactions [Term] id: HP:0000818 name: Abnormality of the endocrine system def: "An abnormality of the endocrine system." [HPO:probinson] comment: The endocrine system is composed of glands that secrete hormones directly into the bloodstream and includes the following glands: thyroid, parathyroids, adrenals, pancreas, gonads (testicles and ovaries), and pituitary. Many other organs, such as the kidney, liver, and heart, have secondary endocrine functions. synonym: "Endocrine system disease" RELATED [] xref: MSH:D004700 xref: SNOMEDCT_US:362969004 xref: UMLS:C0014130 xref: UMLS:C4025823 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000819 name: Diabetes mellitus alt_id: HP:0004908 alt_id: HP:0008217 alt_id: HP:0008234 alt_id: HP:0008260 def: "A group of abnormalities characterized by hyperglycemia and glucose intolerance." [HPO:probinson] xref: MSH:D003920 xref: SNOMEDCT_US:73211009 xref: UMLS:C0011849 is_a: HP:0000818 ! Abnormality of the endocrine system is_a: HP:0001952 ! Glucose intolerance [Term] id: HP:0000820 name: Abnormality of the thyroid gland def: "An abnormality of the thyroid gland." [HPO:probinson] synonym: "Abnormality of the thyroid gland" EXACT layperson [] synonym: "Thyroid abnormality" EXACT layperson [] synonym: "Thyroid disease" RELATED layperson [] xref: MSH:D013959 xref: SNOMEDCT_US:14304000 xref: UMLS:C0040128 is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000821 name: Hypothyroidism alt_id: HP:0003222 alt_id: HP:0008203 def: "Deficiency of thyroid hormone." [HPO:probinson] synonym: "Low T4" EXACT [] synonym: "Underactive thyroid" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D007037 xref: SNOMEDCT_US:40930008 xref: UMLS:C0020676 is_a: HP:0002926 ! Abnormality of thyroid physiology [Term] id: HP:0000822 name: Hypertension alt_id: HP:0004949 alt_id: HP:0005126 def: "The presence of chronic increased pressure in the systemic arterial system." [HPO:probinson] comment: Hypertension is sustained elevation of resting systolic BP (140 mm Hg or higher), diastolic BP (90 mm Hg or higher), or both. synonym: "High blood pressure" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Systemic hypertension" EXACT [] xref: MSH:D006973 xref: SNOMEDCT_US:24184005 xref: SNOMEDCT_US:38341003 xref: UMLS:C0020538 xref: UMLS:C0497247 is_a: HP:0032263 ! Increased blood pressure [Term] id: HP:0000823 name: Delayed puberty alt_id: HP:0008859 alt_id: HP:0010466 alt_id: HP:0010467 def: "Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty." [HPO:probinson] comment: The age at which delayed puberty may be diagnosed in a person without signs of secondary sexual development is 13 years in a girl or 14 years in a boy. synonym: "Delayed pubertal development" EXACT layperson [] synonym: "Delayed pubertal growth" EXACT layperson [] synonym: "Delayed puberty" EXACT layperson [] synonym: "Pubertal delay" EXACT layperson [HPO:skoehler] xref: MSH:D011628 xref: SNOMEDCT_US:123526007 xref: SNOMEDCT_US:400003000 xref: UMLS:C0034012 is_a: HP:0001510 ! Growth delay is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0000824 name: Growth hormone deficiency alt_id: HP:0000861 alt_id: HP:0008195 alt_id: HP:0008206 def: "Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism." [HPO:probinson] comment: The effects of growth hormone are mediated almost exclusively by insulin-like growth factor 1(IGF-1), which is produced primarily in the liver. Growth hormone deficiency refers to inadequate levels of GH (and therefore IGF-1), resulting in growth retardation in children and metabolic disturbances in adults. synonym: "Growth hormone deficiency" EXACT layperson [] synonym: "Somatotropin deficiency" EXACT [] xref: SNOMEDCT_US:2109003 xref: UMLS:C3714796 is_a: HP:0000830 ! Anterior hypopituitarism is_a: HP:0032367 ! Abnormal growth hormone level [Term] id: HP:0000825 name: Hyperinsulinemic hypoglycemia def: "An increased concentration of insulin combined with a decreased concentration of glucose in the blood." [HPO:probinson] comment: Hyperinsulinemic hypoglycemia describes a situation in which the level of insulin is inappropriate for the low level of blood sugar. synonym: "Hyperinsulinaemic hypoglycaemia" EXACT [] synonym: "Hyperinsulinemia hypoglycemia" EXACT [] xref: UMLS:C1864903 is_a: HP:0000842 ! Hyperinsulinemia [Term] id: HP:0000826 name: Precocious puberty def: "The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys." [HPO:probinson] synonym: "Early onset of puberty" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Early puberty" EXACT layperson [] xref: MSH:D011629 xref: SNOMEDCT_US:123527003 xref: SNOMEDCT_US:400179000 xref: UMLS:C0034013 is_a: HP:0100000 ! Early onset of sexual maturation [Term] id: HP:0000828 name: Abnormality of the parathyroid gland def: "An abnormality of the parathyroid gland." [HPO:curators] comment: There are four parathyroid glands, which are small endocrine glands located in the neck behind the thyroid gland that produce parathyroid hormone. synonym: "Parathyroid disease" RELATED [] xref: MSH:D010279 xref: SNOMEDCT_US:73132005 xref: UMLS:C0030517 xref: UMLS:C4025822 is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000829 name: Hypoparathyroidism alt_id: HP:0000856 alt_id: HP:0008292 def: "A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia." [HPO:probinson] synonym: "Decreased parathyroid hormone secretion" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Low parathyroid hormone" EXACT [] xref: MSH:D007011 xref: SNOMEDCT_US:36976004 xref: UMLS:C0020626 is_a: HP:0011767 ! Abnormality of the parathyroid physiology [Term] id: HP:0000830 name: Anterior hypopituitarism def: "A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone." [HPO:probinson] xref: UMLS:C4025821 is_a: HP:0040075 ! Hypopituitarism [Term] id: HP:0000831 name: Insulin-resistant diabetes mellitus def: "A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as will as in fasting and postprandial serum insulin levels." [HPO:probinson, pmid:7706500] synonym: "Insulin resistant diabetes" EXACT layperson [] synonym: "Insulin resistant diabetes mellitus" EXACT [] synonym: "Insulin-resistant diabetes" EXACT layperson [] xref: UMLS:C0854110 is_a: HP:0000819 ! Diabetes mellitus is_a: HP:0000855 ! Insulin resistance [Term] id: HP:0000832 name: Primary hypothyroidism def: "A type of hypothyroidism that results from a defect in the thyroid gland." [HPO:probinson] xref: SNOMEDCT_US:111566002 xref: UMLS:C0700502 is_a: HP:0000821 ! Hypothyroidism [Term] id: HP:0000833 name: obsolete Glucose intolerance is_obsolete: true replaced_by: HP:0001952 [Term] id: HP:0000834 name: Abnormality of the adrenal glands def: "Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys." [HPO:probinson] synonym: "Adrenal abnormalities" EXACT layperson [] synonym: "Adrenal gland disease" RELATED layperson [] xref: MSH:D000307 xref: SNOMEDCT_US:30171000 xref: UMLS:C0001621 xref: UMLS:C4021794 is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000835 name: Adrenal hypoplasia def: "Developmental hypoplasia of the adrenal glands." [HPO:probinson] synonym: "Adrenal gland hypoplasia" EXACT [] synonym: "Hypoplastic adrenal glands" EXACT [] synonym: "Small adrenal glands" EXACT layperson [] xref: MSH:C538429 xref: SNOMEDCT_US:237774001 xref: UMLS:C0342491 xref: UMLS:C1846223 is_a: HP:0011732 ! Abnormality of adrenal morphology [Term] id: HP:0000836 name: Hyperthyroidism alt_id: HP:0008241 def: "An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3)." [HPO:probinson] synonym: "Overactive thyroid" EXACT layperson [http://www.mayoclinic.org/diseases-conditions/hyperthyroidism/basics/definition/con-20020986, ORCID:0000-0001-5208-3432] xref: MSH:D006980 xref: SNOMEDCT_US:34486009 xref: UMLS:C0020550 is_a: HP:0002926 ! Abnormality of thyroid physiology [Term] id: HP:0000837 name: Increased circulating gonadotropin level alt_id: HP:0030340 def: "Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland." [DDD:spark] synonym: "Elevated gonadotropins" EXACT layperson [] synonym: "Elevated serum gonadotropins" EXACT layperson [] synonym: "Gonadotropin excess" EXACT layperson [] synonym: "Increased circulating gonadotropin level" EXACT layperson [] xref: UMLS:C1862265 is_a: HP:0010514 ! Hyperpituitarism is_a: HP:0030338 ! Abnormal circulating gonadotropin level [Term] id: HP:0000839 name: Pituitary dwarfism def: "A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones." [HPO:probinson] xref: MSH:D004393 xref: SNOMEDCT_US:367460001 xref: SNOMEDCT_US:7530009 xref: UMLS:C0013338 is_a: HP:0000824 ! Growth hormone deficiency is_a: HP:0004322 ! Short stature [Term] id: HP:0000840 name: Adrenogenital syndrome alt_id: HP:0001921 def: "Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects." [HPO:probinson] xref: MSH:D047808 xref: SNOMEDCT_US:237751000 xref: SNOMEDCT_US:267395000 xref: SNOMEDCT_US:271077003 xref: UMLS:C0302280 is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0000841 name: Hyperactive renin-angiotensin system def: "An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms." [HPO:probinson] comment: If the kidneys sense reduced renal blood flow, as can happen with reduced blood pressure, they secrete renin into the blood, where it reacts with angiotensinogen to produce angiotensin I, which is converted to angiotensin II by angiotensin converting enzyme (ACE). Both angiotensin I and II are vasoconstrictors. Angiotensin II additionally leads to the production of aldosterone by the adrenal cortex, which in turn leads to an increase in blood volume. synonym: "Increased plasma renin activity" RELATED [HPO:skoehler] xref: UMLS:C1846345 xref: UMLS:C3150267 is_a: HP:0000847 ! Abnormality of renin-angiotensin system [Term] id: HP:0000842 name: Hyperinsulinemia def: "An increased concentration of insulin in the blood." [HPO:probinson] synonym: "Elevated insulin level" EXACT [] xref: MSH:D006946 xref: SNOMEDCT_US:83469008 xref: UMLS:C0020459 is_a: HP:0011014 ! Abnormal glucose homeostasis is_a: HP:0040215 ! Abnormal circulating insulin level [Term] id: HP:0000843 name: Hyperparathyroidism def: "Excessive production of parathyroid hormone (PTH) by the parathyroid glands." [HPO:probinson] synonym: "Elevated blood parathyroid hormone level" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D006961 xref: SNOMEDCT_US:66999008 xref: UMLS:C0020502 is_a: HP:0011767 ! Abnormality of the parathyroid physiology [Term] id: HP:0000845 name: Growth hormone excess alt_id: HP:0008856 def: "Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness." [DDD:spark, HPO:probinson] comment: Disorder resulting from excess pituitary gland production of growth hormone (hGH). synonym: "Acral hypertrophy" EXACT [] synonym: "Acromegalic growth" EXACT [] synonym: "Acromegaly" EXACT [] synonym: "Growth hormone excess" EXACT layperson [] synonym: "Somatotropin excess" EXACT [] xref: MSH:C531600 xref: MSH:D000172 xref: SNOMEDCT_US:74107003 xref: UMLS:C0001206 xref: UMLS:C0235986 is_a: HP:0010514 ! Hyperpituitarism is_a: HP:0032367 ! Abnormal growth hormone level [Term] id: HP:0000846 name: Adrenal insufficiency alt_id: HP:0000865 alt_id: HP:0008218 def: "Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands." [HPO:probinson, pmid:11443143] comment: Adrenal insufficiency may cause persistent vomiting, anorexia, hypoglycemia, poor weight gain in a child, or unexplained weight loss in an adult, malaise, fatigue, muscular weakness, unexplained isotonic or hyponatremic dehydration, hyperkalemia, hypotension, hypoglycemia and especially generalized hyperpigmentation. synonym: "Hypoadrenalism" EXACT [] xref: MSH:D000309 xref: SNOMEDCT_US:111563005 xref: SNOMEDCT_US:237785004 xref: SNOMEDCT_US:386584007 xref: UMLS:C0001623 is_a: HP:0011733 ! Abnormality of adrenal physiology [Term] id: HP:0000847 name: Abnormality of renin-angiotensin system alt_id: HP:0003350 def: "An abnormality of the renin-angiotensin system." [HPO:probinson] comment: The renin-angiotensin system is a hormone system that regulates blood pressure and water (fluid) balance. synonym: "Abnormality of the renin-aldosterone axis" EXACT [] xref: UMLS:C4021793 is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000848 name: Increased circulating renin level alt_id: HP:0003615 def: "An increased level of renin (PRO:000013883) in the blood." [HPO:probinson] synonym: "Elevated blood renin level" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Elevated plasma renin" EXACT [] synonym: "Hyperreninemia" EXACT [] synonym: "Increased plasma renin" EXACT [] synonym: "Increased serum renin" EXACT [] xref: UMLS:C0240783 is_a: HP:0040084 ! Abnormal circulating renin [Term] id: HP:0000849 name: Adrenocortical abnormality xref: UMLS:C4025820 is_a: HP:0011732 ! Abnormality of adrenal morphology [Term] id: HP:0000851 name: Congenital hypothyroidism def: "A type of hypothyroidism with congenital onset." [HPO:probinson] synonym: "Hypothyroidism, congenital" EXACT [] synonym: "Underactive thyroid gland from birth" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D003409 xref: SNOMEDCT_US:190268003 xref: SNOMEDCT_US:217710005 xref: UMLS:C0010308 is_a: HP:0000821 ! Hypothyroidism [Term] id: HP:0000852 name: Pseudohypoparathyroidism def: "A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone." [HPO:probinson] xref: MSH:D011547 xref: SNOMEDCT_US:58976002 xref: UMLS:C0033806 is_a: HP:0011767 ! Abnormality of the parathyroid physiology [Term] id: HP:0000853 name: Goiter def: "An enlargement of the thyroid gland." [HPO:probinson] synonym: "Enlarged thyroid gland in neck" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Goitre" EXACT HP:0045076 [] synonym: "Thyroid goiter" EXACT [] xref: MSH:D006042 xref: SNOMEDCT_US:3716002 xref: UMLS:C0018021 is_a: HP:0011772 ! Abnormality of thyroid morphology [Term] id: HP:0000854 name: Thyroid adenoma def: "The presence of a adenoma of the thyroid gland." [HPO:probinson] xref: MSH:D013964 xref: NCIT:C2855 xref: SNOMEDCT_US:255033000 xref: SNOMEDCT_US:255034006 xref: UMLS:C0151468 is_a: HP:0100031 ! Neoplasm of the thyroid gland [Term] id: HP:0000855 name: Insulin resistance def: "Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels." [HPO:probinson] synonym: "Body fails to respond to insulin" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D007333 xref: SNOMEDCT_US:48606007 xref: UMLS:C0021655 is_a: HP:0011014 ! Abnormal glucose homeostasis [Term] id: HP:0000857 name: Neonatal insulin-dependent diabetes mellitus xref: UMLS:C3278636 is_a: HP:0000831 ! Insulin-resistant diabetes mellitus [Term] id: HP:0000858 name: Menstrual irregularities synonym: "Menstrual irregularity" EXACT layperson [] xref: SNOMEDCT_US:80182007 xref: UMLS:C0156404 is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0000859 name: Hyperaldosteronism alt_id: HP:0004318 alt_id: HP:0005975 def: "Overproduction of the mineralocorticoid aldosterone by the adrenal cortex." [DDD:spark, HPO:probinson] synonym: "Elevated plasma aldosterone" EXACT layperson [] synonym: "Increased aldosterone" EXACT layperson [] synonym: "Increased aldosterone production" EXACT layperson [] synonym: "Mineralocorticoid excess" EXACT [] xref: MSH:D006929 xref: SNOMEDCT_US:88213004 xref: UMLS:C0020428 is_a: HP:0002717 ! Adrenal overactivity [Term] id: HP:0000860 name: Parathyroid hypoplasia def: "Developmental hypoplasia of the parathyroid gland." [HPO:probinson] synonym: "Small parathyroid glands" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Underdeveloped parathyroid glands" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1389851 is_a: HP:0011768 ! Parathyroid dysgenesis [Term] id: HP:0000863 name: Central diabetes insipidus alt_id: HP:0008210 def: "A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus." [HPO:curators] synonym: "Neurohypophyseal diabetes insipidus" EXACT [] xref: MSH:D020790 xref: SNOMEDCT_US:45369008 xref: UMLS:C0687720 is_a: HP:0000873 ! Diabetes insipidus is_a: HP:0011751 ! Abnormality of the posterior pituitary [Term] id: HP:0000864 name: Abnormality of the hypothalamus-pituitary axis alt_id: HP:0000838 alt_id: HP:0000844 def: "Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit." [DDD:spark] xref: UMLS:C4025819 is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000866 name: Euthyroid multinodular goiter xref: UMLS:C1846034 is_a: HP:0009798 ! Euthyroid goiter [Term] id: HP:0000867 name: Secondary hyperparathyroidism def: "Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia." [HPO:probinson, pmid:19836494] comment: Secondary hyperparathyroidism occurs most commonly secondary to chronic renal failure. Other causes of secondary hyperparathyroidism include osteomalacia, rickets, and malabsorption. The pathophysiology of secondary hyperparathyroidism results from abnormalities in the renal tubular absorption of phosphate with reduced phosphate excretion and hyperphosphatemia, as well as impaired renal conversion of 25-hydroxycholecalciferal to 1,25-dihydroxycholecalciferol, which in turn leads to a decrease in the intestinal absorption of calcium. In combination, elevated serum phosphate levels and reduced vitamin D production result in decreases in serum calcium levels or hypocalcemia, leading to hyperparathyroidism. xref: MSH:D006962 xref: SNOMEDCT_US:91478007 xref: UMLS:C0020503 is_a: HP:0000843 ! Hyperparathyroidism [Term] id: HP:0000868 name: Decreased fertility in females synonym: "Decreased fertility in females" EXACT layperson [] synonym: "Reduced fertility in females" EXACT layperson [] xref: UMLS:C0151639 is_a: HP:0000144 ! Decreased fertility [Term] id: HP:0000869 name: Secondary amenorrhea synonym: "Previous menstrual periods stop" EXACT layperson [ORCID:0000-0002-6548-5200] xref: SNOMEDCT_US:86030004 xref: UMLS:C0232940 is_a: HP:0000141 ! Amenorrhea [Term] id: HP:0000870 name: Prolactin excess def: "The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy." [DDD:spark, HPO:probinson] synonym: "Hyperprolactinaemia" EXACT [] synonym: "Hyperprolactinemia" EXACT [] xref: MSH:D006966 xref: SNOMEDCT_US:237662005 xref: UMLS:C0020514 is_a: HP:0010514 ! Hyperpituitarism [Term] id: HP:0000871 name: Panhypopituitarism def: "A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin)." [HPO:probinson, pmid:12466332] xref: MSH:C580003 xref: SNOMEDCT_US:32390006 xref: UMLS:C0242343 is_a: HP:0000830 ! Anterior hypopituitarism [Term] id: HP:0000872 name: Hashimoto thyroiditis def: "A chronic, autoimmune type of thyroiditis associated with hypothyroidism." [HPO:probinson] synonym: "Chronic lymphocytic thyroiditis" EXACT [] synonym: "Hashimoto's thyroiditis" EXACT [] xref: MSH:D050031 xref: SNOMEDCT_US:21983002 xref: UMLS:C0677607 is_a: HP:0002960 ! Autoimmunity is_a: HP:0100646 ! Thyroiditis [Term] id: HP:0000873 name: Diabetes insipidus def: "A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus)." [HPO:curators] xref: MSH:D003919 xref: SNOMEDCT_US:15771004 xref: UMLS:C0011848 is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000875 name: Episodic hypertension synonym: "Intermittent high blood pressure" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1857175 is_a: HP:0000822 ! Hypertension [Term] id: HP:0000876 name: Oligomenorrhea def: "Infrequent menses (less than 6 per year or more than 35 days between cycles)." [HPO:probinson, pmid:22594864] synonym: "Light or infrequent menstrual periods" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:D009839 xref: SNOMEDCT_US:52073004 xref: UMLS:C0028949 is_a: HP:0000140 ! Abnormality of the menstrual cycle [Term] id: HP:0000877 name: Insulin-resistant diabetes mellitus at puberty synonym: "Insulin-resistant diabetes mellitus at puberty" EXACT layperson [] xref: UMLS:C1837792 is_a: HP:0000831 ! Insulin-resistant diabetes mellitus [Term] id: HP:0000878 name: 11 pairs of ribs def: "Presence of only 11 pairs of ribs." [HPO:probinson] comment: Normally, there are 12 pairs of ribs. subset: hposlim_core synonym: "11 pairs of ribs" EXACT layperson [] xref: UMLS:C1839731 is_a: HP:0000921 ! Missing ribs [Term] id: HP:0000879 name: Short sternum def: "Decreased inferosuperior length of the sternum." [HPO:probinson] subset: hposlim_core synonym: "Hypoplastic sternum" RELATED [] synonym: "Short sternum" EXACT layperson [] xref: SNOMEDCT_US:298724002 xref: UMLS:C0575497 xref: UMLS:C4020883 is_a: HP:0006714 ! Aplasia/Hypoplasia of the sternum [Term] id: HP:0000882 name: Hypoplastic scapulae alt_id: HP:0000906 alt_id: HP:0006616 def: "Underdeveloped scapula." [HPO:probinson] subset: hposlim_core synonym: "Hypoplastic scapula" EXACT [] synonym: "Scapular hypoplasia" EXACT [] synonym: "Short scapulae" EXACT [] synonym: "Small scapula" EXACT [] synonym: "Small scapulae" EXACT [] synonym: "Small shoulder blade" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1846434 is_a: HP:0006713 ! Aplasia/Hypoplasia of the scapulae [Term] id: HP:0000883 name: Thin ribs def: "Ribs with a reduced diameter." [HPO:probinson] subset: hposlim_core synonym: "Slender ribs" EXACT layperson [] synonym: "Thin ribs" EXACT layperson [] xref: SNOMEDCT_US:249697003 xref: UMLS:C0426818 is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000884 name: Prominent sternum synonym: "Prominent sternum" EXACT layperson [] synonym: "Sternal protrusion" EXACT [] xref: UMLS:C1846433 is_a: HP:0000766 ! Abnormality of the sternum [Term] id: HP:0000885 name: Broad ribs alt_id: HP:0000903 alt_id: HP:0000950 alt_id: HP:0006667 def: "Increased width of ribs" [HPO:probinson] subset: hposlim_core synonym: "Broad ribs" EXACT layperson [] synonym: "Wide ribs" EXACT layperson [] xref: UMLS:C1848654 is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000886 name: Deformed rib cage def: "Malformation of the rib cage." [HPO:probinson] synonym: "Deformed rib cage" EXACT layperson [] xref: UMLS:C1838659 is_a: HP:0001547 ! Abnormality of the rib cage [Term] id: HP:0000887 name: Cupped ribs alt_id: HP:0006635 def: "Wide, concave rib end." [HPO:probinson] subset: hposlim_core synonym: "Cupped ribs" EXACT layperson [] synonym: "Rib cupping" EXACT layperson [] synonym: "Rib flaring" RELATED layperson [] xref: SNOMEDCT_US:249704008 xref: UMLS:C0426826 xref: UMLS:C1865039 is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000888 name: Horizontal ribs def: "A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12." [HPO:probinson] synonym: "Horizontal ribs" EXACT layperson [] xref: UMLS:C3806510 is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000889 name: Abnormality of the clavicle def: "Any abnormality of the clavicles (collar bones)." [HPO:probinson] subset: hposlim_core synonym: "Abnormal clavicles" EXACT [] synonym: "Abnormal collarbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021792 is_a: HP:0000765 ! Abnormality of the thorax [Term] id: HP:0000890 name: Long clavicles alt_id: HP:0006592 def: "Increased length of the clavicles." [HPO:probinson] synonym: "Elongated clavicles" EXACT [] synonym: "Long collarbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:249687007 xref: UMLS:C0426808 is_a: HP:0000889 ! Abnormality of the clavicle [Term] id: HP:0000891 name: Cervical ribs subset: hposlim_core xref: MSH:D057070 xref: SNOMEDCT_US:72535009 xref: UMLS:C0158779 is_a: HP:0005815 ! Supernumerary ribs [Term] id: HP:0000892 name: Bifid ribs def: "A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray." [HPO:probinson] synonym: "Cleft ribs" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Split ribs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:66102006 xref: UMLS:C0265695 is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000893 name: Bulging of the costochondral junction def: "Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage." [HPO:probinson] comment: The costochondral junction is the structure where the ribs articulate with the sternum. xref: UMLS:C1848538 is_a: HP:0000766 ! Abnormality of the sternum is_a: HP:0000919 ! Abnormality of the costochondral junction [Term] id: HP:0000894 name: Short clavicles alt_id: HP:0000898 alt_id: HP:0005698 alt_id: HP:0005902 def: "Reduced length of the clavicles." [HPO:probinson] subset: hposlim_core synonym: "Clavicular hypoplasia" EXACT [] synonym: "Hypoplastic clavicles" EXACT [] synonym: "Short collarbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Underdeveloped clavicles" EXACT [] xref: SNOMEDCT_US:93250003 xref: UMLS:C0426799 is_a: HP:0006710 ! Aplasia/Hypoplasia of the clavicles [Term] id: HP:0000895 name: Lateral clavicle hook def: "An excessive upward convexity of the lateral clavicle." [HPO:probinson, pmid:7322653] synonym: "Handlebar clavicle" EXACT [] synonym: "Hook-shaped clavicle" EXACT [] synonym: "Hook-shaped collarbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hooked clavicle" EXACT [] xref: SNOMEDCT_US:249684000 xref: UMLS:C0426805 is_a: HP:0000889 ! Abnormality of the clavicle [Term] id: HP:0000896 name: Rib exostoses def: "Multiple circumscribed bony excrescences located in the ribs." [HPO:probinson] xref: UMLS:C1835579 is_a: HP:0000772 ! Abnormality of the ribs is_a: HP:0100777 ! Exostoses [Term] id: HP:0000897 name: Rachitic rosary def: "A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary." [HPO:probinson, PMID:26745253] comment: Nutritional rickets (NR), secondary to vitamin D deficiency and/or dietary calcium deficiency, is characterized by a range of features including 1) hypocalcemic seizures and tetanic spasms; 2) life-threatening hypocalcemic cardiomyopathy; 3) bone pain and muscle weakness; 4) limb and pelvic deformities; 5) failure to thrive; 6) developmental delay; and 7) dental anomalies. Rickets can additionally be caused by genetic defects such as a defect in the vitamin D receptor gene. xref: SNOMEDCT_US:15214001 xref: SNOMEDCT_US:249702007 xref: UMLS:C0426824 is_a: HP:0000766 ! Abnormality of the sternum is_a: HP:0000919 ! Abnormality of the costochondral junction [Term] id: HP:0000900 name: Thickened ribs def: "Increased thickness (diameter) of ribs." [HPO:probinson] subset: hposlim_core xref: SNOMEDCT_US:249699000 xref: UMLS:C0426820 is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000902 name: Rib fusion alt_id: HP:0000880 def: "Complete or partial merging of adjacent ribs." [HPO:probinson] synonym: "Fused ribs" EXACT layperson [] synonym: "Rib fusion" EXACT layperson [] xref: UMLS:C1844749 is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000904 name: Flaring of rib cage alt_id: HP:0006656 def: "The presence of wide, concave anterior rib ends." [HPO:curators] synonym: "Anterior flaring of ribs" EXACT [] synonym: "Flaring of rib cage" EXACT layperson [] xref: UMLS:C1854780 is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000905 name: Progressive clavicular acroosteolysis def: "Progressive bone resorption in the distal part of the clavicle." [HPO:probinson] synonym: "Progressive acroosteolysis of the clavicle" EXACT [] xref: UMLS:C1837757 is_a: HP:0000889 ! Abnormality of the clavicle is_a: HP:0002797 ! Osteolysis [Term] id: HP:0000907 name: Anterior rib cupping alt_id: HP:0006601 def: "Wide, concave anterior rib end." [HPO:probinson] synonym: "Anterior cupping of ribs" EXACT [] synonym: "Anteriorly splayed ribs" EXACT [] xref: UMLS:C1846154 is_a: HP:0000887 ! Cupped ribs [Term] id: HP:0000910 name: Wide-cupped costochondral junctions xref: UMLS:C1861213 is_a: HP:0000919 ! Abnormality of the costochondral junction [Term] id: HP:0000911 name: Flat glenoid fossa def: "Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus." [HPO:probinson, pmid:15163819] comment: See pmid:15163819, figure 2, for the arthrographic appearance of a flat glenoid fossa. xref: UMLS:C1855177 is_a: HP:0011912 ! Abnormality of the glenoid fossa [Term] id: HP:0000912 name: Sprengel anomaly alt_id: HP:0006621 def: "A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other)." [HPO:probinson] comment: Sprengel deformity is associated with malposition and dysplasia of the scapula and also involves regional muscle hypoplasia or atrophy, which causes disfigurement and limitation of shoulder movement. Sprengel deformity may be unilateral or bilateral and occur in isolation or as a syndromic component. Abduction of shoulder beyond 90 degrees is impossible. subset: hposlim_core synonym: "Congenital, upward displacement of the scapula" EXACT [] synonym: "High scapula" EXACT [https://en.wikipedia.org/wiki/sprengel%27s_deformity, ORCID:0000-0001-5208-3432] synonym: "High shoulder blade" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sprengel deformity" EXACT [] xref: MEDDRA:10010455 "Congenital elevation of scapula" xref: MSH:C535802 xref: SNOMEDCT_US:79120002 xref: UMLS:C0152438 is_a: HP:0000782 ! Abnormality of the scapula [Term] id: HP:0000913 name: Posterior rib fusion def: "Complete or partial merging of the posterior part of adjacent ribs." [HPO:probinson] xref: UMLS:C1842084 is_a: HP:0000902 ! Rib fusion [Term] id: HP:0000914 name: Shield chest def: "A broad chest." [HPO:probinson, pmid:22368597] comment: Stretching of the thoracic cage as a result of fetal edema may contribute to the shield chest with widely spaced nipples that can be obsered in persons with Turner syndrome. synonym: "Broad chest" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Shield chest" EXACT layperson [] xref: UMLS:C1834124 xref: UMLS:C1839248 is_a: HP:0100625 ! Enlarged thorax [Term] id: HP:0000915 name: Pectus excavatum of inferior sternum def: "Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum." [HPO:probinson] synonym: "Pectus excavatum inferiorly" EXACT [] xref: UMLS:C1864796 is_a: HP:0000767 ! Pectus excavatum [Term] id: HP:0000916 name: Broad clavicles alt_id: HP:0006651 def: "Increased width (cross-sectional diameter) of the clavicles." [HPO:probinson] subset: hposlim_core synonym: "Broad collarbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:249680009 xref: UMLS:C0426801 is_a: HP:0000889 ! Abnormality of the clavicle [Term] id: HP:0000917 name: Superior pectus carinatum def: "Pectus carinatum affecting primarily the superior part of the sternum." [HPO:curators] synonym: "Pectus carinatum superiorly" EXACT [] xref: UMLS:C1864795 is_a: HP:0000768 ! Pectus carinatum [Term] id: HP:0000918 name: Scapular exostoses def: "The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage." [HPO:probinson] synonym: "Scapulae exostoses" EXACT [] synonym: "Shoulder bone exostoes" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C1851415 is_a: HP:0000782 ! Abnormality of the scapula is_a: HP:0100777 ! Exostoses [Term] id: HP:0000919 name: Abnormality of the costochondral junction def: "Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum." [HPO:probinson] comment: The first seven pairs of ribs are connected with the sternum; the next three ribs are each articulated with the lower border of the cartilage of the preceding rib; the last two ribs have pointed extremities, which do not connect with the sternum. synonym: "Costochondral juctions abnormal" EXACT [] xref: UMLS:C4021791 is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000920 name: Enlargement of the costochondral junction alt_id: HP:0006620 def: "Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum." [HPO:probinson] subset: hposlim_core synonym: "Costochondral thickening" EXACT [] synonym: "Enlarged costochondral junctions" EXACT [] synonym: "Prominent costochondral junction" EXACT [] synonym: "Wide costochondral junctions" EXACT [] synonym: "Widened costochondral junction" EXACT [] xref: UMLS:C1857180 is_a: HP:0000919 ! Abnormality of the costochondral junction [Term] id: HP:0000921 name: Missing ribs alt_id: HP:0000881 alt_id: HP:0006627 def: "A developmental anomaly with absence of one or more ribs." [HPO:probinson] subset: hposlim_core synonym: "Absent ribs" EXACT layperson [] synonym: "Decreased rib number" EXACT layperson [] synonym: "Missing ribs" EXACT layperson [] xref: SNOMEDCT_US:249695006 xref: UMLS:C0426816 is_a: HP:0006712 ! Aplasia/Hypoplasia of the ribs [Term] id: HP:0000922 name: Posterior rib cupping alt_id: HP:0006622 def: "Wide, concave posterior rib end." [HPO:probinson] synonym: "Anterior and posterior rib cupping" EXACT [] xref: UMLS:C1837483 is_a: HP:0000887 ! Cupped ribs [Term] id: HP:0000923 name: Beaded ribs def: "The presence of a row of multiple rounded expansions (beadlike prominences) at the junction of a rib and its cartilage." [HPO:probinson] comment: Beaded ribs, sometimes referred to as rachitic rosary, were often seen in rachitic children. xref: SNOMEDCT_US:15214001 xref: SNOMEDCT_US:249702007 xref: UMLS:C0426824 is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000924 name: Abnormality of the skeletal system def: "An abnormality of the skeletal system." [HPO:probinson] synonym: "Abnormality of the skeletal system" EXACT layperson [] synonym: "Skeletal abnormalities" EXACT layperson [] synonym: "Skeletal anomalies" EXACT layperson [] xref: UMLS:C4021790 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000925 name: Abnormality of the vertebral column def: "Any abnormality of the vertebral column." [HPO:probinson] subset: hposlim_core synonym: "Abnormal spine" EXACT layperson [HPO:skoehler] synonym: "Abnormal vertebral column" EXACT layperson [] synonym: "Abnormality of the backbone" RELATED layperson [] synonym: "Abnormality of the spine" EXACT layperson [] synonym: "Abnormality of the vertebral column" EXACT layperson [] xref: UMLS:C4020882 xref: UMLS:C4021789 is_a: HP:0009121 ! Abnormal axial skeleton morphology [Term] id: HP:0000926 name: Platyspondyly alt_id: HP:0002940 alt_id: HP:0003421 alt_id: HP:0004595 alt_id: HP:0004623 alt_id: HP:0004627 alt_id: HP:0005123 alt_id: HP:0005644 alt_id: HP:0008466 def: "A flattened vertebral body shape with reduced distance between the vertebral endplates." [HPO:probinson] subset: hposlim_core synonym: "Flat vertebral bodies" EXACT [] synonym: "Flattened vertebrae" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Flattened vertebral bodies" EXACT [] xref: UMLS:C1844704 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0000927 name: Abnormality of skeletal maturation def: "The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation." [HPO:probinson] synonym: "Abnormality of skeletal maturation" EXACT layperson [] xref: UMLS:C4025818 is_a: HP:0011843 ! Abnormality of skeletal physiology [Term] id: HP:0000929 name: Abnormal skull morphology def: "An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones." [HPO:probinson] synonym: "Abnormality of the skull" EXACT layperson [] synonym: "Abnormality of the skull bones" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C0235942 is_a: HP:0000234 ! Abnormality of the head is_a: HP:0009121 ! Abnormal axial skeleton morphology [Term] id: HP:0000930 name: Elevated imprint of the transverse sinuses synonym: "Elevated imprint of occipital bone over the transverse sinuses" EXACT [ORCID:0000-0001-5889-4463] synonym: "Elevated imprint of posterior skull bones over the transverse sinuses" EXACT [ORCID:0000-0001-5889-4463] synonym: "Thinning and bulging of occipital bone over the transverse sinuses" EXACT [ORCID:0000-0001-5889-4463] synonym: "Thinning and bulging of posterior skull bones over the transverse sinuses" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025817 is_a: HP:0002693 ! Abnormality of the skull base [Term] id: HP:0000931 name: Thinning and bulging of the posterior fossa bones synonym: "Thinning and bulging of occipital bone of skull" NARROW [ORCID:0000-0001-5889-4463] synonym: "Thinning and bulging of posterior fossa bones" EXACT [] synonym: "Thinning and bulging of posterior skull bones" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4021788 xref: UMLS:C4280608 is_a: HP:0000932 ! Abnormality of the posterior cranial fossa [Term] id: HP:0000932 name: Abnormality of the posterior cranial fossa alt_id: HP:0007306 def: "An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum." [HPO:curators] comment: This finding can be demonstrated by cerebral magnetic resonance imaging or computer tomography. synonym: "Abnormality of the posterior fossa" EXACT [] synonym: "Posterior fossa anomaly" EXACT [] xref: UMLS:C3280768 is_a: HP:0002693 ! Abnormality of the skull base [Term] id: HP:0000933 name: Posterior fossa cyst at the fourth ventricle xref: UMLS:C4025816 is_a: HP:0007109 ! Periventricular cysts is_a: HP:0007291 ! Posterior fossa cyst [Term] id: HP:0000934 name: Chondrocalcinosis def: "Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) ." [HPO:sdoelken] synonym: "Calcium deposits in joints" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D002805 xref: SNOMEDCT_US:201637001 xref: SNOMEDCT_US:239832006 xref: SNOMEDCT_US:239838005 xref: UMLS:C0553730 is_a: HP:0001367 ! Abnormal joint morphology is_a: HP:0010766 ! Ectopic calcification is_a: HP:0100685 ! Abnormal Sharpey fiber morphology [Term] id: HP:0000935 name: Thickened cortex of long bones def: "Abnormal thickening of the cortex of long bones." [HPO:curators] synonym: "Broad cortex of long bones" EXACT [] synonym: "Cortical thickening of the long bones" EXACT [] synonym: "Thickened cortices of long bones" EXACT [] xref: UMLS:C1840418 is_a: HP:0011314 ! Abnormality of long bone morphology is_a: HP:0100039 ! Thickened cortex of bones [Term] id: HP:0000938 name: Osteopenia alt_id: HP:0002768 alt_id: HP:0002799 alt_id: HP:0002800 def: "Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5." [HPO:probinson, PMID:21234807] synonym: "Generalized osteopenia" EXACT [] xref: MSH:D001851 xref: SNOMEDCT_US:312894000 xref: SNOMEDCT_US:78441005 xref: UMLS:C0029453 xref: UMLS:C0747078 is_a: HP:0004349 ! Reduced bone mineral density [Term] id: HP:0000939 name: Osteoporosis alt_id: HP:0002774 def: "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD)." [HPO:probinson, PMID:28293453] comment: Osteoporosis is a disease that is characterized by low bone mass, deterioration of bone tissue, and disruption of bone microarchitecture: it can lead to compromised bone strength and an increase in the risk of fractures. xref: MSH:D010024 xref: SNOMEDCT_US:64859006 xref: UMLS:C0029456 is_a: HP:0004349 ! Reduced bone mineral density [Term] id: HP:0000940 name: Abnormal diaphysis morphology def: "An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone." [HPO:probinson] synonym: "Abnormal shape of shaft of long bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the diaphyses" EXACT [] xref: UMLS:C4021787 is_a: HP:0011314 ! Abnormality of long bone morphology [Term] id: HP:0000941 name: Short diaphyses synonym: "Short shaft of long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025815 is_a: HP:0000940 ! Abnormal diaphysis morphology [Term] id: HP:0000943 name: Dysostosis multiplex alt_id: HP:0002760 xref: MSH:D008059 xref: SNOMEDCT_US:254069004 xref: SNOMEDCT_US:65327002 xref: UMLS:C0086795 is_a: HP:0011842 ! Abnormality of skeletal morphology [Term] id: HP:0000944 name: Abnormality of the metaphysis alt_id: HP:0006506 def: "An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood." [HPO:probinson] synonym: "Abnormality of the wide portion of a long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025814 is_a: HP:0002813 ! Abnormality of limb bone morphology is_a: HP:0011314 ! Abnormality of long bone morphology [Term] id: HP:0000946 name: Hypoplastic ilia alt_id: HP:0003176 alt_id: HP:0003178 def: "Underdevelopment of the ilium." [HPO:probinson] synonym: "Short and small iliac bones" EXACT [] synonym: "Small iliac bones" EXACT [] synonym: "Small wings of the pelvic girdle" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1861218 xref: UMLS:C4280607 is_a: HP:0002867 ! Abnormality of the ilium [Term] id: HP:0000947 name: Dumbbell-shaped long bone alt_id: HP:0005061 alt_id: HP:0005071 alt_id: HP:0005075 def: "An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses." [HPO:probinson] synonym: "Dumbbell widening of long bone metaphyses" EXACT [] synonym: "Dumbbell-shaped long bone" EXACT layperson [] xref: UMLS:C2749582 is_a: HP:0003016 ! Metaphyseal widening [Term] id: HP:0000951 name: Abnormality of the skin alt_id: HP:0001478 alt_id: HP:0001479 alt_id: HP:0005591 alt_id: HP:0006736 alt_id: HP:0007415 alt_id: HP:0007580 def: "An abnormality of the skin." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the skin" EXACT layperson [] synonym: "dermatopathy" EXACT [HPO:skoehler] synonym: "dermopathy" EXACT [HPO:skoehler] synonym: "Skin abnormality" RELATED [] xref: MSH:D012868 xref: MSH:D012871 xref: SNOMEDCT_US:199879009 xref: SNOMEDCT_US:95320005 xref: UMLS:C0037268 xref: UMLS:C0037274 is_a: HP:0001574 ! Abnormality of the integument [Term] id: HP:0000952 name: Jaundice def: "Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:probinson] synonym: "Icterus" EXACT [ORCID:0000-0001-6908-9849] synonym: "Jaundice" EXACT layperson [] synonym: "Yellow skin" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Yellowing of the skin" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D007565 xref: SNOMEDCT_US:18165001 xref: UMLS:C0022346 is_a: HP:0001005 ! Dermatological manifestations of systemic disorders is_a: HP:0001396 ! Cholestasis [Term] id: HP:0000953 name: Hyperpigmentation of the skin alt_id: HP:0007527 def: "A darkening of the skin related to an increase in melanin production and deposition." [HPO:probinson] synonym: "Cutaneous hyperpigmentation" EXACT [] synonym: "Hyperpigmented lesion" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Increased skin pigmentation" EXACT [] synonym: "Melanoderma" RELATED [] synonym: "Melanodermia" RELATED [] synonym: "Patchy darkened skin" EXACT layperson [] synonym: "Skin hyperpigmentation" EXACT [] xref: MSH:D017495 xref: SNOMEDCT_US:4830009 xref: SNOMEDCT_US:49765009 xref: UMLS:C0162834 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0000954 name: Single transverse palmar crease alt_id: HP:0006214 def: "The distal and proximal transverse palmar creases are merged into a single transverse palmar crease." [HPO:probinson, pmid:19125433] comment: The presence of a single palmar crease (instead of the two palmar creases that are typically present). subset: hposlim_core synonym: "Simian crease" EXACT [] synonym: "Simian creases" EXACT [] synonym: "Simian line" EXACT [ORCID:0000-0001-6908-9849] synonym: "Single flexion crease" EXACT [] synonym: "Single palmar crease" EXACT [] synonym: "Single palmar creases" EXACT [] synonym: "Single transverse palmar creases" EXACT [] synonym: "Transverse palmar crease" EXACT [] xref: SNOMEDCT_US:248409006 xref: UMLS:C0424731 is_a: HP:0010490 ! Abnormality of the palmar creases [Term] id: HP:0000956 name: Acanthosis nigricans alt_id: HP:0007498 alt_id: HP:0007518 alt_id: HP:0007591 def: "A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck." [DDD:cmoss, pmid:19061584] comment: Acanthosis nigricans is seen in a variety of syndromes including those characterized by insulin resistance or fibroblast growth factor receptor (FGFR) mutations, and may also occur as an adverse effect of several medications that promote hyperinsulinemia. subset: secondary_consequence synonym: "Darkened and thickened skin" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Keratosis nigricans" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:D000052 xref: SNOMEDCT_US:402599005 xref: SNOMEDCT_US:72129000 xref: UMLS:C0000889 is_a: HP:0011368 ! Epidermal thickening [Term] id: HP:0000957 name: Cafe-au-lait spot alt_id: HP:0005601 alt_id: HP:0007454 def: "Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children." [HPO:probinson] comment: The phrase cafe-au-lait comes from the French word for milk-coffee. A single cafe-au-lait spot can be an isolated finding in otherwise normal individuals. Multiple cafe-au-lait spots often indicate the presence of neurofibromatosis type 1 but may also be seen in other diseases including McCune-Albright syndrome, tuberous sclerosis, and Fanconi anemia. synonym: "Birthmark" BROAD layperson [ORCID:0000-0001-6908-9849] synonym: "Cafe au lait spots" EXACT [] synonym: "Cafe-au-lait macule" EXACT [ORCID:0000-0001-6908-9849] synonym: "Cafe-au-lait macules" EXACT [] synonym: "Cafe-au-lait spots" RELATED [HPO:skoehler] synonym: "Flat light-brown mark on skin" BROAD layperson [] xref: MSH:D019080 xref: SNOMEDCT_US:201281002 xref: SNOMEDCT_US:51089004 xref: UMLS:C0221263 xref: UMLS:C0265974 is_a: HP:0011355 ! Localized skin lesion [Term] id: HP:0000958 name: Dry skin def: "Skin characterized by the lack of natural or normal moisture." [HPO:probinson] subset: hposlim_core synonym: "Dry skin" EXACT layperson [] synonym: "Xerosis" EXACT [] xref: MEDDRA:10048222 "Xerosis" xref: SNOMEDCT_US:16386004 xref: UMLS:C0151908 xref: UMLS:C0259817 is_a: HP:0011121 ! Abnormality of skin morphology [Term] id: HP:0000960 name: Sacral dimple def: "A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft." [HPO:probinson, PMID:28245993] subset: hposlim_core synonym: "Pilonidal dimple" EXACT [] synonym: "Spinal dimple" EXACT layperson [https://en.wikipedia.org/wiki/sacral_dimple, ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:249729002 xref: SNOMEDCT_US:311897005 xref: UMLS:C0426848 is_a: HP:0010767 ! Sacrococcygeal pilonidal abnormality is_a: HP:0010781 ! Skin dimple [Term] id: HP:0000961 name: Cyanosis def: "Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood." [PMID:25658213] synonym: "Blue discoloration of the skin" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D003490 xref: SNOMEDCT_US:119419001 xref: SNOMEDCT_US:3415004 xref: UMLS:C0010520 is_a: HP:0001005 ! Dermatological manifestations of systemic disorders is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0000962 name: Hyperkeratosis alt_id: HP:0007523 def: "Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." [HPO:probinson] subset: hposlim_core xref: MEDDRA:10020649 "Hyperkeratosis" xref: SNOMEDCT_US:26996000 xref: SNOMEDCT_US:396228006 xref: SNOMEDCT_US:399955009 xref: UMLS:C0870082 is_a: HP:0011368 ! Epidermal thickening [Term] id: HP:0000963 name: Thin skin alt_id: HP:0001020 def: "Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin." [HPO:probinson] subset: hposlim_core synonym: "Thin skin" EXACT layperson [] xref: SNOMEDCT_US:277797007 xref: UMLS:C0423757 is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0000964 name: Eczema alt_id: HP:0001481 def: "Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding." [HPO:probinson] comment: Eczema has several forms including atopic dermatitis, contact dermatitis, dyshidrotic eczema, nummular eczema, seborrheic dermatitis, and stasis dermatitis. synonym: "Eczema" EXACT layperson [] xref: MSH:D004485 xref: SNOMEDCT_US:281104002 xref: SNOMEDCT_US:43116000 xref: UMLS:C0013595 is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0000965 name: Cutis marmorata alt_id: HP:0001037 def: "A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata, also called livedo reticularis, generally occurs on the legs, arms and trunk and is often more severe in cold weather." [HPO:sdoelken] subset: hposlim_core synonym: "Livedo reticularis" EXACT [] xref: SNOMEDCT_US:26825009 xref: UMLS:C0263401 is_a: HP:0011276 ! Vascular skin abnormality [Term] id: HP:0000966 name: Hypohidrosis alt_id: HP:0007551 alt_id: HP:0007571 def: "Abnormally diminished capacity to sweat." [HPO:probinson] subset: hposlim_core synonym: "Decreased ability to sweat" EXACT layperson [] synonym: "Decreased sweating" EXACT layperson [] synonym: "Inadequate sweating" EXACT [ORCID:0000-0001-6908-9849] synonym: "Oligohidrosis" EXACT [] synonym: "Sweating, decreased" EXACT layperson [] xref: MEDDRA:10021013 "Hypohidrosis" xref: MSH:D007007 xref: SNOMEDCT_US:45004005 xref: UMLS:C0020620 is_a: HP:0007550 ! Hypohidrosis or hyperhidrosis [Term] id: HP:0000967 name: Petechiae def: "Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae." [HPO:probinson] subset: hposlim_core xref: MEDDRA:10034754 "Petechiae" xref: MSH:D011693 xref: SNOMEDCT_US:271813007 xref: SNOMEDCT_US:50091001 xref: UMLS:C0031256 is_a: HP:0031365 ! Macular purpura [Term] id: HP:0000968 name: Ectodermal dysplasia alt_id: HP:0007615 def: "Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands." [HPO:probinson] comment: This term is kept in the HPO for now as 'ectodermal dysplasia' has been recorded as a phenotypic of other disorders such as DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA (MIM125050). Nevertheless it is preferable to use precise descriptions of the phenotypic abnormalities and this term should not be used for new annotations. It will be made obsolete in the future. xref: MSH:D004476 xref: SNOMEDCT_US:254154003 xref: SNOMEDCT_US:8654005 xref: UMLS:C0013575 is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0000969 name: Edema alt_id: HP:0000990 def: "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body." [HPO:probinson] comment: Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability. synonym: "Dropsy" EXACT [ORCID:0000-0001-6908-9849] synonym: "Fluid retention" EXACT layperson [] synonym: "Hydrops" EXACT [] synonym: "Oedema" EXACT [] synonym: "Water retention" EXACT layperson [] xref: MSH:D004487 xref: SNOMEDCT_US:20741006 xref: SNOMEDCT_US:267038008 xref: SNOMEDCT_US:423666004 xref: SNOMEDCT_US:79654002 xref: UMLS:C0013604 is_a: HP:0011032 ! Abnormality of fluid regulation [Term] id: HP:0000970 name: Anhidrosis def: "Inability to sweat." [HPO:probinson] subset: hposlim_core synonym: "Lack of sweating" EXACT layperson [http://www.medicalnewstoday.com/articles/266427.php, ORCID:0000-0001-5208-3432] synonym: "Sudomotor dysfunction" EXACT [http://www.medicalnewstoday.com/articles/266427.php, ORCID:0000-0001-5208-3432] synonym: "Sweating dysfunction" EXACT layperson [http://www.medicalnewstoday.com/articles/266427.php, ORCID:0000-0001-5208-3432] xref: MEDDRA:10002512 "Anhidrosis" xref: MSH:D007007 xref: SNOMEDCT_US:14662005 xref: SNOMEDCT_US:39659002 xref: UMLS:C0003028 is_a: HP:0025276 ! Abnormality of skin adnexa physiology [Term] id: HP:0000971 name: Abnormal sweat gland morphology def: "Any structural abnormality of the sweat gland." [HPO:probinson] synonym: "Abnormalities of sweating" RELATED layperson [HPO:skoehler] synonym: "Abnormality of the sweat gland" EXACT layperson [] synonym: "Sweat gland disease" RELATED layperson [] xref: MSH:D013543 xref: SNOMEDCT_US:88232005 xref: UMLS:C0038986 xref: UMLS:C0262643 xref: UMLS:C4020881 is_a: HP:0011138 ! Abnormality of skin adnexa morphology [Term] id: HP:0000972 name: Palmoplantar hyperkeratosis def: "Hyperkeratosis affecting the palm of the hand and the sole of the foot." [HPO:probinson] subset: hposlim_core synonym: "Hyperkeratosis of palms and soles" EXACT [] synonym: "Hyperkeratosis of the palms and soles" EXACT [] synonym: "Palmoplantar keratoses" EXACT [] synonym: "Palmoplantar keratosis" EXACT [] synonym: "Thick palms and soles" EXACT [] synonym: "Thickened palms and soles" EXACT [] synonym: "Thickening of the outer layer of the skin of the palms and soles" EXACT layperson [] xref: MSH:D007645 xref: SNOMEDCT_US:706885006 xref: UMLS:C0022596 is_a: HP:0007556 ! Plantar hyperkeratosis is_a: HP:0010765 ! Palmar hyperkeratosis [Term] id: HP:0000973 name: Cutis laxa def: "Wrinkled, redundant, inelastic and sagging skin." [HPO:probinson] synonym: "Chalazoderma" EXACT [https://en.wikipedia.org/wiki/cutis_laxa, ORCID:0000-0001-6908-9849] synonym: "Cutaneous laxity" EXACT [] synonym: "Dermatochalasia" EXACT [https://en.wikipedia.org/wiki/cutis_laxa, ORCID:0000-0001-6908-9849] synonym: "Dermatomegaly" EXACT [https://en.wikipedia.org/wiki/cutis_laxa, ORCID:0000-0001-6908-9849] synonym: "Elastolysis" EXACT [] synonym: "Generalized elastolysis" EXACT [https://en.wikipedia.org/wiki/cutis_laxa, ORCID:0000-0001-6908-9849] synonym: "Hanging skin" BROAD layperson [ORCID:0000-0001-6908-9849] synonym: "Hypoelastic skin" EXACT [] synonym: "Inelastic skin" EXACT [ORCID:0000-0001-6908-9849] synonym: "Lax skin" EXACT [] synonym: "Loose and inelastic skin" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Loose skin" EXACT [] synonym: "Skin laxity" EXACT [] xref: MSH:C531660 xref: MSH:D003483 xref: SNOMEDCT_US:58588007 xref: UMLS:C0010495 xref: UMLS:C2930812 xref: UMLS:C4280606 is_a: HP:0008067 ! Abnormally lax or hyperextensible skin [Term] id: HP:0000974 name: Hyperextensible skin alt_id: HP:0007389 alt_id: HP:0007493 alt_id: HP:0007578 def: "A condition in which the skin can be stretched beyond normal, and then returns to its initial position." [HPO:sdoelken] comment: Skin hyperelasticity is to be distinguished from cutis laxa, which refers to extra, redundant skin which tends to hang in folds. subset: hposlim_core synonym: "Hyperelastic skin" EXACT layperson [] synonym: "Skin hyperelasticity" EXACT layperson [] synonym: "Skin hyperextensibility" EXACT [] synonym: "Stretchable skin" EXACT layperson [] xref: UMLS:C0241074 is_a: HP:0008067 ! Abnormally lax or hyperextensible skin [Term] id: HP:0000975 name: Hyperhidrosis alt_id: HP:0001011 alt_id: HP:0001064 alt_id: HP:0007424 def: "Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather." [HPO:probinson] comment: Ther terms hyperhidrosis and diaphoresis are often used interchangeably to describe excessive perspiration. Diaphoresis can be used to refer to excessive sweating that occurs with certain diseases (secondary hyperhidrosis). Since the HPO does not intend to provide coess for etiologies or diseases, we will use these terms interchangeably to refer to excessive perspiration without an appropriate cause such as hot and humid weather. subset: hposlim_core synonym: "Diaphoresis" EXACT [] synonym: "Excessive sweating" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased sweating" EXACT layperson [] synonym: "Profuse sweating" EXACT layperson [] synonym: "Sweating" EXACT layperson [] synonym: "Sweating profusely" EXACT layperson [] synonym: "Sweating, increased" EXACT layperson [] xref: MEDDRA:10020642 "Hyperhidrosis" xref: MSH:D006945 xref: MSH:D013546 xref: SNOMEDCT_US:161857006 xref: SNOMEDCT_US:312230002 xref: SNOMEDCT_US:364538006 xref: SNOMEDCT_US:415690000 xref: SNOMEDCT_US:415691001 xref: SNOMEDCT_US:52613005 xref: UMLS:C0020458 xref: UMLS:C0038990 xref: UMLS:C0700590 is_a: HP:0007550 ! Hypohidrosis or hyperhidrosis [Term] id: HP:0000976 name: Eczematoid dermatitis xref: MSH:D004485 xref: SNOMEDCT_US:281104002 xref: SNOMEDCT_US:43116000 xref: UMLS:C0013595 is_a: HP:0000964 ! Eczema [Term] id: HP:0000977 name: Soft skin def: "Subjective impression of increased softness upon palpitation of the skin." [HPO:probinson] subset: hposlim_core synonym: "Soft skin" EXACT layperson [] synonym: "Velvety skin" RELATED layperson [] synonym: "Velvety skin texture" RELATED layperson [HPO:skoehler] xref: UMLS:C0241178 xref: UMLS:C1844592 is_a: HP:0010647 ! Abnormal elasticity of skin [Term] id: HP:0000978 name: Bruising susceptibility alt_id: HP:0000959 alt_id: HP:0007433 alt_id: HP:0007472 def: "An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma." [HPO:probinson] comment: An ecchymosis is defined as being larger than 1 cm in size. synonym: "Bruisability" EXACT [] synonym: "Bruise easily" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Bruising susceptibility" EXACT layperson [] synonym: "Easy bruisability" EXACT layperson [] synonym: "Easy bruising" EXACT layperson [] xref: MSH:D004438 xref: SNOMEDCT_US:302227002 xref: SNOMEDCT_US:424131007 xref: SNOMEDCT_US:425075004 xref: SNOMEDCT_US:77643000 xref: UMLS:C0013491 xref: UMLS:C0423798 is_a: HP:0001933 ! Subcutaneous hemorrhage [Term] id: HP:0000979 name: Purpura def: "Purpura (from Latin: purpura, meaning \"purple\") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae." [HPO:probinson, PMID:11515831] comment: Depending on their size, purpuric lesions are traditionally classified as petechiae (pinpoint hemorrhages less than 2 mm in greatest diameter), purpura (2 mm to 1 cm) or ecchymoses (more than 1 cm). subset: hposlim_core synonym: "Blood spots" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Red or purple spots on the skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D011693 xref: SNOMEDCT_US:12393003 xref: SNOMEDCT_US:387778001 xref: SNOMEDCT_US:423902002 xref: UMLS:C0034150 is_a: HP:0001933 ! Subcutaneous hemorrhage [Term] id: HP:0000980 name: Pallor def: "Abnormally pale skin." [HPO:probinson] synonym: "Paleness" RELATED layperson [] synonym: "Skin paleness" RELATED layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D010167 xref: SNOMEDCT_US:398979000 xref: UMLS:C0030232 is_a: HP:0011121 ! Abnormality of skin morphology [Term] id: HP:0000982 name: Palmoplantar keratoderma def: "Abnormal thickening of the skin of the palms of the hands and the soles of the feet." [HPO:probinson] synonym: "Palmar and plantar keratoderma" EXACT [] synonym: "Thickening of palms and soles" EXACT layperson [] xref: MSH:D007645 xref: SNOMEDCT_US:706885006 xref: UMLS:C0022596 is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0000987 name: Atypical scarring of skin def: "Atypically scarred skin ." [HPO:sdoelken] synonym: "Atypical scarring" EXACT layperson [] synonym: "Atypical scarring of skin" EXACT layperson [] xref: UMLS:C4021786 is_a: HP:0011355 ! Localized skin lesion is_a: HP:0100699 ! Scarring [Term] id: HP:0000988 name: Skin rash def: "A red eruption of the skin." [HPO:probinson] synonym: "Exanthem" EXACT [] synonym: "Rash" BROAD layperson [] synonym: "Skin rash" EXACT layperson [] xref: MEDDRA:10037844 "Rash" xref: MSH:D005076 xref: SNOMEDCT_US:112625008 xref: SNOMEDCT_US:271807003 xref: UMLS:C0015230 is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0000989 name: Pruritus def: "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:probinson] subset: hposlim_core synonym: "Itching" EXACT layperson [] synonym: "Itchy skin" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "pruritis" EXACT [] synonym: "Skin itching" EXACT layperson [] xref: MSH:D011537 xref: SNOMEDCT_US:279333002 xref: SNOMEDCT_US:418290006 xref: SNOMEDCT_US:418363000 xref: SNOMEDCT_US:424492005 xref: UMLS:C0033774 is_a: HP:0011122 ! Abnormality of skin physiology [Term] id: HP:0000991 name: Xanthomatosis def: "The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin." [HPO:curators] synonym: "Xanthomata" EXACT [] synonym: "Yellow bumps of fatty deposits on skin" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:D014973 xref: SNOMEDCT_US:63103006 xref: UMLS:C0043325 is_a: HP:0011355 ! Localized skin lesion [Term] id: HP:0000992 name: Cutaneous photosensitivity alt_id: HP:0005594 alt_id: HP:0006831 alt_id: HP:0007538 def: "An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin." [HPO:probinson] subset: hposlim_core synonym: "Photosensitive skin" EXACT layperson [] synonym: "Photosensitive skin rashes" EXACT layperson [] synonym: "Photosensitivity" EXACT layperson [] synonym: "Sensitivity to sunlight" EXACT layperson [] synonym: "Skin photosensitivity" EXACT layperson [] synonym: "Sun sensitivity" EXACT layperson [] xref: MSH:D010787 xref: SNOMEDCT_US:90128006 xref: UMLS:C0349506 is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0000993 name: Molluscoid pseudotumors def: "Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees." [HPO:probinson] synonym: "Molluscoid pseudotumor" EXACT [] xref: UMLS:C1844597 is_a: HP:0011355 ! Localized skin lesion [Term] id: HP:0000995 name: Melanocytic nevus def: "A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger." [HPO:probinson] comment: Melanocytic nevi are commonly known as moles. The majority of moles appear during the first 20 to 30 years of a person's life, however, some may be present when the baby is born. The average human has from 10 to 14 moles. Moles can develop on the scalp, under the nails, armpits, virtually anywhere on the body. The total number of moles a person can have usually varies during his or her lifetime. synonym: "Beauty mark" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Melanocytic naevus" EXACT [] synonym: "Melanocytic nevi" EXACT [] synonym: "Nevocellular nevi" EXACT [] synonym: "Noncancerous mole" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Pigmented naevi" EXACT [] synonym: "Pigmented nevi" EXACT [] xref: MSH:D009508 xref: SNOMEDCT_US:21119008 xref: SNOMEDCT_US:400096001 xref: UMLS:C0027962 xref: UMLS:C4280269 is_a: HP:0001000 ! Abnormality of skin pigmentation is_a: HP:0003764 ! Nevus [Term] id: HP:0000996 name: Facial capillary hemangioma def: "Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face." [] xref: UMLS:C1858545 is_a: HP:0000329 ! Facial hemangioma is_a: HP:0005306 ! Capillary hemangioma [Term] id: HP:0000997 name: Axillary freckling def: "The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin." [pmid:12186179] subset: hposlim_core xref: UMLS:C1860335 is_a: HP:0001480 ! Freckling [Term] id: HP:0000998 name: Hypertrichosis def: "Hypertrichosis is increased hair growth that is abnormal in quantity or location." [HPO:probinson] synonym: "Excessive hair growth" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Increased hair growth on body" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D006983 xref: SNOMEDCT_US:271607001 xref: SNOMEDCT_US:29966009 xref: UMLS:C0020555 is_a: HP:0011362 ! Abnormal hair quantity [Term] id: HP:0000999 name: Pyoderma def: "Any manifestation of a skin disease associated with the production of pus." [HPO:probinson] comment: Pyoderma is mainly seen with bacterial skin infections but can also be observed in autoimmune conditions. synonym: "Pus-filled lesion" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D011711 xref: SNOMEDCT_US:70759006 xref: UMLS:C0034212 is_a: HP:0005406 ! Recurrent bacterial skin infections [Term] id: HP:0001000 name: Abnormality of skin pigmentation alt_id: HP:0007582 alt_id: HP:0200045 def: "An abnormality of the pigmentation of the skin." [HPO:probinson] subset: hposlim_core synonym: "Abnormal pigmentation" EXACT layperson [] synonym: "Abnormal skin color" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Abnormal skin pigmentation" EXACT layperson [HPO:skoehler] synonym: "Abnormality of pigmentation" EXACT layperson [] synonym: "Abnormality of skin pigmentation" EXACT layperson [] synonym: "Pigmentary changes" EXACT layperson [] synonym: "Pigmentary skin changes" EXACT layperson [] synonym: "Pigmentation anomaly" EXACT layperson [] xref: UMLS:C1260926 is_a: HP:0011121 ! Abnormality of skin morphology [Term] id: HP:0001001 name: Abnormality of subcutaneous fat tissue synonym: "Abnormality of fatty tissue below the skin" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025813 is_a: HP:0009124 ! Abnormal adipose tissue morphology is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0001002 name: obsolete Decreased subcutaneous fat is_obsolete: true replaced_by: HP:0003758 [Term] id: HP:0001003 name: Multiple lentigines def: "Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots." [HPO:probinson] comment: Lentigines are commonly (but not always) due to chronic sun exposure (solar lentigines; sometimes called liver spots) and occur most frequently on the face and back of the hands. subset: hposlim_core synonym: "Liver spots" NARROW layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:72100002 xref: UMLS:C0036651 xref: UMLS:C1328931 is_a: HP:0001034 ! Hypermelanotic macule [Term] id: HP:0001004 name: Lymphedema alt_id: HP:0003605 def: "Localized fluid retention and tissue swelling caused by a compromised lymphatic system." [HPO:sdoelken] synonym: "Lymphatic obstruction" EXACT [ORCID:0000-0001-6908-9849] synonym: "Lymphoedema" EXACT [] synonym: "Onset of lymphedema around puberty" EXACT [] synonym: "Swelling caused by excess lymph fluid under skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D008209 xref: SNOMEDCT_US:234097001 xref: SNOMEDCT_US:30213001 xref: UMLS:C0024236 xref: UMLS:C0240278 xref: UMLS:C1835229 is_a: HP:0000969 ! Edema [Term] id: HP:0001005 name: Dermatological manifestations of systemic disorders subset: secondary_consequence xref: UMLS:C4025812 is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0001006 name: Hypotrichosis alt_id: HP:0002551 alt_id: HP:0004525 alt_id: HP:0004874 def: "Congenital lack of hair growth." [HPO:probinson] comment: Unlike alopecia, which describes hair loss where formerly there was hair growth, hypotrichosis describes a situation where there wasn't any hair growth in the first place. subset: hposlim_core synonym: "Congenital hypotrichosis" EXACT [] synonym: "Decreased hair growth on body" BROAD layperson [] synonym: "Hypotrichosis, infantile" EXACT [] synonym: "Marked hypotrichosis" EXACT [] synonym: "Sparse hair since birth" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MEDDRA:10021126 "Hypotrichosis" xref: MSH:D007039 xref: SNOMEDCT_US:53602002 xref: SNOMEDCT_US:56558005 xref: UMLS:C0020678 is_a: HP:0011362 ! Abnormal hair quantity [Term] id: HP:0001007 name: Hirsutism def: "Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair)." [HPO:sdoelken] synonym: "Excessive hairiness" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D006628 xref: SNOMEDCT_US:399939002 xref: UMLS:C0019572 is_a: HP:0011362 ! Abnormal hair quantity [Term] id: HP:0001008 name: Accumulation of melanosomes in melanocytes xref: UMLS:C1843389 is_a: HP:0011125 ! Abnormality of dermal melanosomes [Term] id: HP:0001009 name: Telangiectasia alt_id: HP:0001079 def: "Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips." [HPO:probinson] synonym: "Cutaneous telangiectasia" EXACT [] synonym: "Spider veins" RELATED layperson [ORCID:0000-0001-6908-9849] synonym: "Telangiectases" EXACT [] xref: MSH:D013684 xref: SNOMEDCT_US:112641009 xref: SNOMEDCT_US:247479008 xref: UMLS:C0039446 xref: UMLS:C1138421 is_a: HP:0011276 ! Vascular skin abnormality [Term] id: HP:0001010 name: Hypopigmentation of the skin alt_id: HP:0005589 alt_id: HP:0007604 alt_id: HP:0007622 def: "A reduction of skin color related to a decrease in melanin production and deposition." [HPO:probinson] synonym: "Hypopigmentation" EXACT [] synonym: "Hypopigmented skin" EXACT [] synonym: "Patchy lightened skin" EXACT layperson [] synonym: "Skin hypopigmentation" RELATED [] xref: MSH:D017496 xref: SNOMEDCT_US:18655006 xref: SNOMEDCT_US:201284005 xref: SNOMEDCT_US:23006000 xref: SNOMEDCT_US:89031001 xref: UMLS:C0162835 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001011 name: obsolete Diaphoresis (with pheochromocytoma) is_obsolete: true replaced_by: HP:0000975 [Term] id: HP:0001012 name: Multiple lipomas def: "The presence of multiple lipomas (a type of benign tissue made of fatty tissue)." [HPO:sdoelken] comment: A lipoma is a benign tumor composed of fatty tissue. They are the most common form of soft tissue tumor and are usually soft to the touch, movable, and generally painless (but there is a separate entity of painful multiple lipomas which is a hereditary disease called Dercum disease or adiposis dolorosa). Many lipomas are small (under one centimeter diameter) but can enlarge to sizes greater than six centimeters. Lipomas are commonly found in adults from 40 to 60 years of age, but can also be found in children. synonym: "Lipomas" RELATED [] synonym: "Lipomatosis" RELATED [] synonym: "Multiple fatty lumps" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D008067 xref: NCIT:C3192 xref: SNOMEDCT_US:404062002 xref: SNOMEDCT_US:46720004 xref: SNOMEDCT_US:93163002 xref: UMLS:C0023798 xref: UMLS:C0745730 is_a: HP:0012031 ! Lipomatous tumor [Term] id: HP:0001013 name: Eruptive xanthomas def: "Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur." [pmid:12165227, pmid:22375975] comment: Eruptive xanthomas occur in the setting of chylomicronemia and hypertriglyceridemia. xref: SNOMEDCT_US:238952003 xref: UMLS:C0221252 is_a: HP:0000991 ! Xanthomatosis [Term] id: HP:0001014 name: Angiokeratoma def: "A vascular lesion defined histologically as one or more dilated blood vessels lying directly subepidermal and showing an epidermal proliferative reaction. Clinically, angiokeratoma presents as a small, raised, dark-red spot." [HPO:probinson, pmid:8993949] synonym: "Angiokeratomas" EXACT [] xref: MSH:D000794 xref: SNOMEDCT_US:26810009 xref: UMLS:C0002985 is_a: HP:0011276 ! Vascular skin abnormality [Term] id: HP:0001015 name: Prominent superficial veins def: "A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal." [] comment: See Figure 4 of PMID:24456199 synonym: "Prominent veins" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1837785 is_a: HP:0002624 ! Abnormal venous morphology is_a: HP:0007394 ! Prominent superficial blood vessels [Term] id: HP:0001017 name: Anemic pallor def: "A type of pallor that is secondary to the presence of anemia." [HPO:probinson] xref: UMLS:C4025811 is_a: HP:0000980 ! Pallor [Term] id: HP:0001018 name: Abnormal palmar dermatoglyphics def: "An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand." [HPO:probinson] xref: UMLS:C4025810 is_a: HP:0007477 ! Abnormal dermatoglyphics is_a: HP:0040211 ! Abnormality of the skin of the palm [Term] id: HP:0001019 name: Erythroderma def: "An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever." [HPO:probinson] synonym: "Exfoliative dermititis" EXACT [ORCID:0000-0001-6908-9849] synonym: "Generalized erythroderma" EXACT [] synonym: "Generalized erythrodermia" EXACT [] synonym: "Red scaly skin caused by inflammatory skin disease" BROAD layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D003873 xref: SNOMEDCT_US:200948000 xref: SNOMEDCT_US:396349005 xref: SNOMEDCT_US:396350005 xref: SNOMEDCT_US:399992009 xref: SNOMEDCT_US:400005007 xref: UMLS:C0011606 is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0001022 name: Albinism def: "An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina)." [HPO:sdoelken] synonym: "Achromasia" EXACT [ORCID:0000-0001-6908-9849] synonym: "Albinism" EXACT layperson [] xref: MSH:D000417 xref: SNOMEDCT_US:15890002 xref: SNOMEDCT_US:18064000 xref: UMLS:C0001916 xref: UMLS:C0333913 is_a: HP:0005599 ! Hypopigmentation of hair is_a: HP:0007513 ! Generalized hypopigmentation [Term] id: HP:0001024 name: Skin dimple over apex of long bone angulation xref: UMLS:C1855815 is_a: HP:0010781 ! Skin dimple [Term] id: HP:0001025 name: Urticaria def: "Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure." [HPO:probinson] subset: hposlim_core synonym: "Hives" EXACT layperson [] xref: MEDDRA:10046735 "Urticaria" xref: MSH:D014581 xref: SNOMEDCT_US:126485001 xref: SNOMEDCT_US:247472004 xref: SNOMEDCT_US:64305001 xref: UMLS:C0042109 is_a: HP:0011276 ! Vascular skin abnormality [Term] id: HP:0001026 name: Penetrating foot ulcers synonym: "Penetrating foot ulcers" EXACT layperson [] xref: UMLS:C4025809 is_a: HP:0200042 ! Skin ulcer [Term] id: HP:0001027 name: Soft, doughy skin def: "A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough." [] synonym: "Soft, doughy skin" EXACT layperson [] xref: UMLS:C1849043 is_a: HP:0000977 ! Soft skin [Term] id: HP:0001028 name: Hemangioma alt_id: HP:0007444 def: "A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma)." [HPO:probinson] synonym: "Hemangiomata" RELATED [] synonym: "Strawberry mark" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D006391 xref: NCIT:C3085 xref: SNOMEDCT_US:2099007 xref: SNOMEDCT_US:253053003 xref: SNOMEDCT_US:400210000 xref: UMLS:C0018916 is_a: HP:0100742 ! Vascular neoplasm [Term] id: HP:0001029 name: Poikiloderma def: "Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias." [HPO:probinson] comment: Poikiloderma does not refer to a specific disease entity, but can be seen owing to a number of different causes. subset: hposlim_core xref: MEDDRA:10057041 "Poikiloderma" xref: SNOMEDCT_US:402685001 xref: SNOMEDCT_US:70114006 xref: UMLS:C0392777 is_a: HP:0011121 ! Abnormality of skin morphology [Term] id: HP:0001030 name: Fragile skin def: "Skin that splits easily with minimal injury." [HPO:probinson] subset: hposlim_core synonym: "Fragile skin" EXACT layperson [] synonym: "Skin fragility" EXACT layperson [] xref: MEDDRA:10040851 "Skin fragility" xref: SNOMEDCT_US:247427007 xref: UMLS:C0241181 is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0001031 name: Subcutaneous lipoma def: "The presence of subcutaneous lipoma." [HPO:probinson] xref: NCIT:C3192 xref: UMLS:C1403035 is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue is_a: HP:0001012 ! Multiple lipomas is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0001032 name: Absent distal interphalangeal creases def: "Absence of the distal interphalangeal flexion creases of the fingers." [HPO:curators] synonym: "Absence of skin creases over distal interphalangeal joints" EXACT [] synonym: "Aplasia of the distal interphalangeal creases" EXACT [] synonym: "Distal finger flexion creases absent" EXACT [] xref: UMLS:C1861349 is_a: HP:0006109 ! Absent phalangeal crease [Term] id: HP:0001033 name: Facial flushing after alcohol intake subset: secondary_consequence synonym: "Facial flushing after alcohol intake" EXACT layperson [] xref: UMLS:C4025808 is_a: HP:0031284 ! Flushing [Term] id: HP:0001034 name: Hypermelanotic macule alt_id: HP:0007442 alt_id: HP:0007491 alt_id: HP:0007492 alt_id: HP:0100815 alt_id: HP:0200031 alt_id: HP:0200033 def: "A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size." [DDD:cmoss] synonym: "Hyperpigmented macules" EXACT [] synonym: "Hyperpigmented skin patches" RELATED layperson [] synonym: "Hyperpigmented spots" EXACT layperson [] xref: UMLS:C1842774 is_a: HP:0007400 ! Irregular hyperpigmentation is_a: HP:0012733 ! Macule [Term] id: HP:0001036 name: Parakeratosis def: "Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes." [HPO:probinson] comment: Persistence of the nuclei of keratinocytes as they rise into the stratum corneum of the epidermis. Parakeratosis is observed as scaling in many conditions such as psoriasis. xref: MSH:D010241 xref: SNOMEDCT_US:200766001 xref: SNOMEDCT_US:65068000 xref: UMLS:C0030436 is_a: HP:0011368 ! Epidermal thickening [Term] id: HP:0001038 name: Warfarin-induced skin necrosis subset: secondary_consequence xref: UMLS:C1867638 is_a: HP:0001005 ! Dermatological manifestations of systemic disorders [Term] id: HP:0001039 name: Atheroeruptive xanthoma xref: UMLS:C4025807 is_a: HP:0000991 ! Xanthomatosis [Term] id: HP:0001040 name: Multiple pterygia xref: UMLS:C1867448 is_a: HP:0001059 ! Pterygium [Term] id: HP:0001041 name: Facial erythema alt_id: HP:0001068 def: "Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin." [HPO:probinson] synonym: "Blushed cheeks" EXACT layperson [] synonym: "Blushing" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Red face" EXACT layperson [] synonym: "Red in the face" EXACT layperson [] synonym: "Rosacea" NARROW layperson [ORCID:0000-0001-6908-9849] synonym: "Ruddy face" RELATED layperson [] xref: MSH:D001821 xref: MSH:D012393 xref: SNOMEDCT_US:20255002 xref: SNOMEDCT_US:271811009 xref: SNOMEDCT_US:398909004 xref: UMLS:C0005874 xref: UMLS:C0035854 xref: UMLS:C0239488 xref: UMLS:C4020880 is_a: HP:0010783 ! Erythema [Term] id: HP:0001042 name: High axial triradius xref: UMLS:C4025806 is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0001043 name: Prominent scalp veins synonym: "Prominent scalp veins" EXACT layperson [] xref: UMLS:C1856542 is_a: HP:0001015 ! Prominent superficial veins is_a: HP:0001965 ! Abnormality of the scalp is_a: HP:3000036 ! Abnormality of head blood vessel [Term] id: HP:0001045 name: Vitiligo synonym: "Blotchy loss of skin color" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D014820 xref: SNOMEDCT_US:56727007 xref: UMLS:C0042900 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001046 name: Intermittent jaundice def: "Jaundice that is sometimes present, sometimes not." [HPO:curators] subset: secondary_consequence synonym: "Intermittent icterus" EXACT [ORCID:0000-0001-6908-9849] synonym: "Intermittent yellow skin" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Intermittent yellowing of skin" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4025805 is_a: HP:0000952 ! Jaundice [Term] id: HP:0001047 name: Atopic dermatitis alt_id: HP:0007533 alt_id: HP:0007564 def: "Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage." [HPO:probinson, PMID:27904186] comment: In infants, atopic dermatitis is known as infantile eczema. synonym: "Atopic dermatitis, chronic" EXACT [] synonym: "Baby eczema" RELATED layperson [ORCID:0000-0001-6908-9849] synonym: "Dermatitis, Atopic" EXACT [] xref: MSH:D003876 xref: SNOMEDCT_US:200775004 xref: SNOMEDCT_US:24079001 xref: UMLS:C0011615 xref: UMLS:C4280605 is_a: HP:0000964 ! Eczema [Term] id: HP:0001048 name: Cavernous hemangioma def: "The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma." [HPO:probinson] subset: hposlim_core synonym: "Cavernous angioma" EXACT [ORCID:0000-0001-6908-9849] synonym: "Cavernous haemangioma" EXACT [] synonym: "Collection of dilated blood vessels that forms mass" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MEDDRA:10055899 "Haemangioma cavernous" xref: MSH:D006392 xref: NCIT:C3086 xref: SNOMEDCT_US:33377007 xref: SNOMEDCT_US:416824008 xref: SNOMEDCT_US:56975005 xref: UMLS:C0018920 is_a: HP:0001028 ! Hemangioma [Term] id: HP:0001049 name: Absent dorsal skin creases over affected joints xref: UMLS:C1861400 is_a: HP:0006143 ! Abnormal finger flexion creases [Term] id: HP:0001050 name: Plethora comment: Related to polycythemia. xref: SNOMEDCT_US:75246004 xref: UMLS:C0232370 is_a: HP:0001005 ! Dermatological manifestations of systemic disorders [Term] id: HP:0001051 name: Seborrheic dermatitis alt_id: HP:0007562 def: "Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk." [HPO:curators] comment: Dandruff. synonym: "Dysseborrheic dermatitis" RELATED [] synonym: "Seborrhea" EXACT [] synonym: "Seborrheic eczema" EXACT [] xref: MSH:D012628 xref: SNOMEDCT_US:50563003 xref: SNOMEDCT_US:86708008 xref: UMLS:C0036508 xref: UMLS:C3806554 is_a: HP:0000964 ! Eczema [Term] id: HP:0001052 name: Nevus flammeus def: "A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin." [HPO:sdoelken, PMID:22483320] comment: Port-wine stains generally become deeper, thicker, and darker in color over time, mainly as a result of progressive vascular dilatation. As a result of these changes, which are generally much more evident on the face, patients often develop hypertrophy and nodularity after the third or fourth decade of life. The fact that nodules are only found on the face and do not occur in childhood has led some authors to suggest that port-wine stains might actually be hamartomatous lesions. subset: hposlim_core synonym: "Nevus simplex" EXACT [ORCID:0000-0001-6908-9849] synonym: "port-wine stain" EXACT layperson [HPO:SKOEHLER] xref: MEDDRA:10067193 "Naevus flammeus" xref: MSH:D019339 xref: SNOMEDCT_US:254211001 xref: SNOMEDCT_US:416377005 xref: UMLS:C0235752 is_a: HP:0003764 ! Nevus is_a: HP:0025104 ! Capillary malformation [Term] id: HP:0001053 name: Hypopigmented skin patches synonym: "Patchy loss of skin color" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1836735 is_a: HP:0001010 ! Hypopigmentation of the skin is_a: HP:0011355 ! Localized skin lesion [Term] id: HP:0001054 name: Numerous nevi synonym: "Multiple pigmented nevi" EXACT [] synonym: "Numerous moles" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1849677 is_a: HP:0003764 ! Nevus is_a: HP:0010566 ! Hamartoma [Term] id: HP:0001055 name: Erysipelas def: "Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system." [HPO:probinson] subset: hposlim_core synonym: "St. Anthony's Fire" RELATED [] xref: MEDDRA:10015145 "Erysipelas" xref: MSH:D004881 xref: MSH:D004886 xref: SNOMEDCT_US:44653001 xref: SNOMEDCT_US:51510002 xref: UMLS:C0014714 xref: UMLS:C0014733 is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0001056 name: Milia def: "Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin." [HPO:probinson] comment: Milia are a normal finding in newborn babies (40-50%), often occurring around the nose. subset: hposlim_core synonym: "Milk spot" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Millium cyst" EXACT [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:254679001 xref: SNOMEDCT_US:254683001 xref: SNOMEDCT_US:37719003 xref: UMLS:C0345996 is_a: HP:0011355 ! Localized skin lesion [Term] id: HP:0001057 name: Aplasia cutis congenita def: "A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs." [HPO:probinson] subset: hposlim_core synonym: "Absence of part of skin at birth" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Congenital absence of skin" EXACT [https://en.wikipedia.org/wiki/aplasia_cutis_congenita, ORCID:0000-0001-5208-3432] synonym: "Congenital scars" BROAD [https://en.wikipedia.org/wiki/aplasia_cutis_congenita, ORCID:0000-0001-5208-3432] synonym: "Cutis aplasia" EXACT [https://en.wikipedia.org/wiki/aplasia_cutis_congenita, ORCID:0000-0001-5208-3432] xref: MEDDRA:10002963 "Aplasia cutis congenita" xref: MSH:D004476 xref: SNOMEDCT_US:254237003 xref: SNOMEDCT_US:35484002 xref: SNOMEDCT_US:74223008 xref: UMLS:C0265989 xref: UMLS:C0282160 is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0001058 name: Poor wound healing def: "A reduced ability to heal cutaneous wounds." [HPO:probinson] subset: hposlim_core synonym: "Poor wound healing" EXACT layperson [] xref: UMLS:C1851789 is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0001059 name: Pterygium def: "Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits." [HPO:probinson] synonym: "Pterygia" RELATED [] synonym: "Surfer's eye" NARROW layperson [ORCID:0000-0001-6908-9849] xref: MSH:D011625 xref: SNOMEDCT_US:77489003 xref: UMLS:C0033999 is_a: HP:0001367 ! Abnormal joint morphology is_a: HP:0011356 ! Regional abnormality of skin [Term] id: HP:0001060 name: Axillary pterygium def: "Presence of a cutaneous membrane (flap) in the armpit." [] synonym: "Axillary pterygia" EXACT HP:0045078 [] xref: UMLS:C1844738 is_a: HP:0001059 ! Pterygium [Term] id: HP:0001061 name: Acne alt_id: HP:0005596 def: "A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts)." [HPO:probinson] comment: Acne can be a consequence of increased sebum production as a result of increased testosterone production (in males and females) during puberty. Blockage of hair follicles canresult from accumulating keratin and sebum, resulting in plug formation called microcomedone, which can enlarge just beneath the surface of the skin in the pore itself. It may become visible as a closed comedone (whitehead), a firm white papule. Further enlargement leads to an open comedone (blackhead). The comedones are not themselves inflammatory. Proprionibacterium acnes can induce inflammation, leding to an inflammed, red papule. subset: hposlim_core synonym: "Acne" EXACT layperson [] synonym: "Breaking out" BROAD layperson [] xref: MEDDRA:10000496 "Acne" xref: SNOMEDCT_US:11381005 xref: UMLS:C0702166 is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0001062 name: Atypical nevus def: "A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink." [HPO:probinson] comment: Macular and papular areas may be present within a single lesion (also described as a fried egg appearance). The terms atypical moles and dysplastic nevi are used interchangeably, regardless of clinical or histologic appearance. synonym: "Atypical mole" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Dysplastic Nevus" RELATED [] xref: MSH:D004416 xref: SNOMEDCT_US:254818000 xref: SNOMEDCT_US:61814002 xref: UMLS:C0205748 is_a: HP:0003764 ! Nevus [Term] id: HP:0001063 name: Acrocyanosis synonym: "Persistent blue color of hands, feet, or parts of face" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:25003006 xref: UMLS:C0221347 is_a: HP:0000961 ! Cyanosis [Term] id: HP:0001065 name: Striae distensae alt_id: HP:0001023 alt_id: HP:0001066 alt_id: HP:0100680 def: "Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders." [HPO:probinson] subset: hposlim_core synonym: "Purplish striae" EXACT [] synonym: "Stretch marks" EXACT layperson [] synonym: "Striae" EXACT [] synonym: "Striae atrophicae" EXACT [] synonym: "Striae cutis distensae" EXACT [] xref: MEDDRA:10040925 "Skin striae" xref: MSH:D057896 xref: SNOMEDCT_US:201066002 xref: SNOMEDCT_US:201067006 xref: SNOMEDCT_US:47212006 xref: UMLS:C0152459 is_a: HP:0004334 ! Dermal atrophy is_a: HP:0100679 ! Lack of skin elasticity [Term] id: HP:0001067 name: Neurofibromas alt_id: HP:0006746 alt_id: HP:0007386 alt_id: HP:0007612 def: "The presence of multiple cutaneous neurofibromas." [HPO:probinson] synonym: "multiple neurofibromas" RELATED [] synonym: "Neurofibromata" EXACT [] synonym: "Neurofibromatosis" EXACT [] xref: MSH:D017253 xref: NCIT:C3272 xref: SNOMEDCT_US:19133005 xref: SNOMEDCT_US:81669005 xref: UMLS:C0162678 is_a: HP:0008069 ! Neoplasm of the skin is_a: HP:0010614 ! Fibroma is_a: HP:0100007 ! Neoplasm of the peripheral nervous system [Term] id: HP:0001069 name: Episodic hyperhidrosis def: "Intermittent episodes of abnormally increased perspiration." [HPO:probinson] synonym: "Hyperhidrosis, episodic" EXACT [] synonym: "Sporadic excessive sweating" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1857171 is_a: HP:0000975 ! Hyperhidrosis [Term] id: HP:0001070 name: Mottled pigmentation alt_id: HP:0007584 def: "Patchy and irregular skin pigmentation." [HPO:probinson] synonym: "Mottled skin coloring" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Stippled pigmentation" RELATED [] xref: UMLS:C0860439 xref: UMLS:C4020879 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001071 name: Angiokeratoma corporis diffusum synonym: "Fabry syndrome" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:D000795 xref: SNOMEDCT_US:124464003 xref: SNOMEDCT_US:16652001 xref: UMLS:C0002986 is_a: HP:0001014 ! Angiokeratoma [Term] id: HP:0001072 name: Thickened skin alt_id: HP:0007393 def: "Laminar thickening of skin." [HPO:sdoelken] subset: hposlim_core synonym: "Diffusely thickened skin" RELATED layperson [] synonym: "Pachydermia" EXACT [] synonym: "Thick skin" EXACT layperson [] synonym: "Thickened skin" EXACT layperson [] xref: MEDDRA:10040936 "Skin thickening" xref: SNOMEDCT_US:17417006 xref: SNOMEDCT_US:69943009 xref: UMLS:C0334008 xref: UMLS:C4020878 is_a: HP:0011121 ! Abnormality of skin morphology [Term] id: HP:0001073 name: Cigarette-paper scars def: "Thin (atrophic) and wide scars." [HPO:probinson] comment: Cigarette-paper scars are atrophic scars in the skin at sites of minor lacerations over the knees, shins, and elbows. subset: hposlim_core synonym: "'cigarette paper scarring'" EXACT layperson [] synonym: "Cigarette paper scarring" EXACT layperson [] synonym: "Cigarette-paper scars" EXACT layperson [] xref: UMLS:C1851828 is_a: HP:0001075 ! Atrophic scars [Term] id: HP:0001074 name: Atypical nevi in non-sun exposed areas xref: UMLS:C4021837 is_a: HP:0003764 ! Nevus [Term] id: HP:0001075 name: Atrophic scars alt_id: HP:0007567 def: "Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin." [HPO:probinson] subset: hposlim_core synonym: "Sunken or indented skin due to damage" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Thin, atrophic scars" EXACT [] xref: SNOMEDCT_US:239172000 xref: SNOMEDCT_US:409766009 xref: UMLS:C0162154 is_a: HP:0000987 ! Atypical scarring of skin is_a: HP:0004334 ! Dermal atrophy [Term] id: HP:0001076 name: Glabellar hemangioma synonym: "Glabellar capillary hemangioma" EXACT [] xref: UMLS:C1854408 is_a: HP:0001028 ! Hemangioma [Term] id: HP:0001080 name: Biliary tract abnormality def: "An abnormality of the biliary tree." [HPO:probinson] synonym: "Biliary tract disease" RELATED [] xref: MSH:D001660 xref: SNOMEDCT_US:105997008 xref: UMLS:C0005424 xref: UMLS:C0549613 is_a: HP:0004297 ! Abnormality of the biliary system [Term] id: HP:0001081 name: Cholelithiasis def: "Hard, pebble-like deposits that form within the gallbladder." [HPO:probinson] comment: Gallstones range in size from as small as a grain of sand to as large as a golf ball. Cholesterol gallstones are the most common type of gallstone. Gallstones resulting from too much bilirubin in the bile are referred to as pigment stones. synonym: "Gallstones" EXACT layperson [] xref: MSH:D002769 xref: SNOMEDCT_US:266474003 xref: UMLS:C0008350 is_a: HP:0012437 ! Abnormal gallbladder morphology [Term] id: HP:0001082 name: Cholecystitis def: "The presence of inflammatory changes in the gallbladder." [HPO:probinson] synonym: "Gallbladder inflammation" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D002764 xref: SNOMEDCT_US:76581006 xref: UMLS:C0008325 is_a: HP:0012438 ! Abnormal gallbladder physiology [Term] id: HP:0001083 name: Ectopia lentis alt_id: HP:0000665 alt_id: HP:0007637 alt_id: HP:0007882 alt_id: HP:0008016 def: "Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of lens position" EXACT [] synonym: "Lens dislocation" EXACT [] xref: MSH:D004479 xref: MSH:D007906 xref: SNOMEDCT_US:74969002 xref: UMLS:C0013581 xref: UMLS:C0023309 is_a: HP:0000517 ! Abnormality of the lens [Term] id: HP:0001084 name: Corneal arcus alt_id: HP:0100741 def: "A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years." [HPO:curators] comment: A grey opaque line which surrounds the margin of the cornea caused by lipid deposits. synonym: "Anterior embryotoxon" EXACT [] synonym: "Arcus juvenilis" RELATED [] synonym: "Arcus lipoidis" EXACT [] synonym: "Arcus senilis" EXACT [] synonym: "Corneal annulus" EXACT [] synonym: "Gerontoxon" EXACT [] xref: MSH:D001112 xref: SNOMEDCT_US:111522004 xref: SNOMEDCT_US:231924000 xref: SNOMEDCT_US:231925004 xref: UMLS:C0003742 xref: UMLS:C0339268 is_a: HP:0008011 ! Peripheral opacification of the cornea [Term] id: HP:0001085 name: Papilledema alt_id: HP:0001130 def: "Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure." [HPO:probinson] comment: The borders of the optic disc are normally clear and well defined upon fundoscopic examination. Papilledema is optic disc swelling that can lead to the blurring of optic margins and elevation of optic disc. subset: hposlim_core xref: MSH:D010211 xref: SNOMEDCT_US:248487006 xref: SNOMEDCT_US:423341008 xref: SNOMEDCT_US:73221001 xref: UMLS:C0030353 is_a: HP:0012795 ! Abnormality of the optic disc [Term] id: HP:0001087 name: Developmental glaucoma def: "Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma." [] synonym: "Childhood glaucoma" EXACT [ORCID:0000-0001-6908-9849] synonym: "Infantile glaucoma" EXACT [ORCID:0000-0001-6908-9849] synonym: "Pediatric glaucoma" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:D006871 xref: SNOMEDCT_US:204113001 xref: SNOMEDCT_US:413728006 xref: UMLS:C0020302 is_a: HP:0000501 ! Glaucoma is_a: HP:0007700 ! Ocular anterior segment dysgenesis [Term] id: HP:0001088 name: Brushfield spots def: "The presence of whitish spots in a ring-like arrangement at the periphery of the iris." [HPO:probinson] comment: Brushfield spots are relatively common in the general population but opccur more frequently in persons with certain disorders (especially Down syndrome). subset: hposlim_core synonym: "Iris brushfield spots" EXACT [] synonym: "Speckled iris" RELATED layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:400960002 xref: UMLS:C1303007 xref: UMLS:C4280604 is_a: HP:0008034 ! Abnormal iris pigmentation [Term] id: HP:0001089 name: Iris atrophy def: "Loss of iris tissue (atrophy)" [HPO:probinson] synonym: "Iris degeneration" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:95709007 xref: UMLS:C0423319 is_a: HP:0000525 ! Abnormality iris morphology [Term] id: HP:0001090 name: Abnormally large globe alt_id: HP:0200093 def: "Diffusely large eye (with megalocornea) without glaucoma." [HPO:probinson] comment: Note that Increased size of palpebral fissues is not a synonym of this term. synonym: "Increased size of eyes" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased size of palpebral fissures" RELATED [ORCID:0000-0001-5889-4463] synonym: "Large eyeballs" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Large eyes" EXACT layperson [] synonym: "Large of palpebral fissures" RELATED [ORCID:0000-0001-5889-4463] synonym: "Megalophthalmos" EXACT [] xref: SNOMEDCT_US:246920008 xref: UMLS:C0423221 xref: UMLS:C1855852 xref: UMLS:C4280603 is_a: HP:0100887 ! Abnormality of globe size [Term] id: HP:0001092 name: Absent lacrimal punctum alt_id: HP:0007977 def: "No identifiable superior and/or inferior lacrimal punctum." [pmid:19125427] comment: The lacrimal puncta (openings of the tear ducts) are normally located at the medial margin of each eyelid. The opening on the lower eyelid border is more visible than the opening on the upper eyelid border. subset: hposlim_core synonym: "Absent lacrimal gland puncta" EXACT [] synonym: "Absent lacrimal openings" EXACT [] synonym: "Absent lacrimal puncta" EXACT [] synonym: "Agenesis of the lacrimal punctum" RELATED [] synonym: "Aplasia of lacrimal puncta" EXACT [] synonym: "Lacrimal puncta aplasia" EXACT [] synonym: "Lacrimal punctum, absence" EXACT [] xref: MSH:C566703 xref: SNOMEDCT_US:204208005 xref: SNOMEDCT_US:253217007 xref: UMLS:C0344509 xref: UMLS:C1867060 is_a: HP:0011479 ! Abnormal lacrimal punctum morphology [Term] id: HP:0001093 name: Optic nerve dysplasia def: "The presence of developmental dysplasia of the optic nerve." [HPO:probinson] xref: UMLS:C2676026 is_a: HP:0000587 ! Abnormality of the optic nerve [Term] id: HP:0001094 name: Iridocyclitis def: "A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body." [HPO:probinson] xref: MSH:D015863 xref: SNOMEDCT_US:77971008 xref: UMLS:C0022073 is_a: HP:0012122 ! Anterior uveitis [Term] id: HP:0001095 name: Hypertensive retinopathy subset: secondary_consequence xref: MSH:D058437 xref: SNOMEDCT_US:6962006 xref: UMLS:C0152132 is_a: HP:0008046 ! Abnormal retinal vascular morphology [Term] id: HP:0001096 name: Keratoconjunctivitis def: "Inflammation of the cornea and conjunctiva." [HPO:probinson] subset: hposlim_core xref: MSH:D007637 xref: SNOMEDCT_US:88151007 xref: UMLS:C0022573 is_a: HP:0000491 ! Keratitis is_a: HP:0000509 ! Conjunctivitis [Term] id: HP:0001097 name: Keratoconjunctivitis sicca def: "Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids." [HPO:probinson] subset: hposlim_core synonym: "Dry eye syndrome" RELATED layperson [] synonym: "Dry eyes" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Keratitis sicca" EXACT [] synonym: "Xerophthalmia" EXACT [] xref: MSH:C531719 xref: MSH:D007638 xref: MSH:D014985 xref: MSH:D015352 xref: SNOMEDCT_US:302896008 xref: SNOMEDCT_US:363677007 xref: SNOMEDCT_US:46152009 xref: UMLS:C0013238 xref: UMLS:C0022575 xref: UMLS:C0043349 xref: UMLS:C2930821 is_a: HP:0001096 ! Keratoconjunctivitis [Term] id: HP:0001098 name: Abnormal fundus morphology def: "Any structural abnormality of the fundus of the eye." [] synonym: "Abnormality of the fundus" EXACT [] xref: UMLS:C4025804 is_a: HP:0004329 ! Abnormal posterior eye segment morphology [Term] id: HP:0001099 name: Fundus atrophy xref: UMLS:C2673929 is_a: HP:0001098 ! Abnormal fundus morphology [Term] id: HP:0001100 name: Heterochromia iridis def: "Heterochromia iridis is a difference in the color of the iris in the two eyes." [HPO:probinson] subset: hposlim_core synonym: "Different colored eyes" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Heterochromia irides" EXACT [] xref: MSH:C538115 xref: SNOMEDCT_US:247033008 xref: UMLS:C0423318 is_a: HP:0200064 ! Asymmetry of iris pigmentation [Term] id: HP:0001101 name: Iritis def: "Inflammation of the iris." [HPO:probinson] synonym: "Inflammation of iris" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D007500 xref: SNOMEDCT_US:65074000 xref: UMLS:C0022081 is_a: HP:0000525 ! Abnormality iris morphology [Term] id: HP:0001102 name: Angioid streaks of the fundus def: "Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch's membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic." [HPO:probinson, ORCID:0000-0003-0986-4123] comment: Angioid streaks result from breaks in a weakened Bruch's membrane. synonym: "Angioid streaks" EXACT [] synonym: "Angioid streaks of the retina" EXACT [] synonym: "Angioid streaks, retina" EXACT [] synonym: "Laquer cracks of the retina" EXACT [] xref: MSH:D000793 xref: UMLS:C0002982 is_a: HP:0000479 ! Abnormal retinal morphology [Term] id: HP:0001103 name: Abnormal macular morphology def: "A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina." [HPO:probinson, PMID:16255686] comment: The term macula derives from the presence of the xanthophyll pigments, lutein and zeaxanthin, in a region five to six millimetres in diameter at the posterior pole of the eye, appearing as a yellow spot (macula lutea), when viewed in red-free light. subset: hposlim_core synonym: "Abnormality of the macula" EXACT [] synonym: "Macula abnormality" EXACT [] synonym: "Macular abnormality" EXACT [] xref: SNOMEDCT_US:312999006 xref: UMLS:C0730362 is_a: HP:0000479 ! Abnormal retinal morphology [Term] id: HP:0001104 name: Macular hypoplasia def: "Underdevelopment of the macula lutea." [HPO:probinson] subset: hposlim_core xref: UMLS:C1849412 is_a: HP:0008059 ! Aplasia/Hypoplasia of the macula [Term] id: HP:0001105 name: Retinal atrophy def: "Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss." [ORCID:0000-0003-0986-4123] xref: MSH:D012162 xref: SNOMEDCT_US:405722004 xref: SNOMEDCT_US:95695004 xref: UMLS:C0035304 xref: UMLS:C0521694 is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0001106 name: Periorbital hyperpigmentation def: "Increased pigmentation of the skin in the region surrounding the orbit of the eye." [HPO:probinson] synonym: "Dark circles around the eyes" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Dark circles under the eyes" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Darkening around the eyes" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Idiopathic cutaneous hyperchromia at the orbital region" EXACT [ORCID:0000-0001-5889-4463] synonym: "Infraorbital pigmentation" EXACT [ORCID:0000-0001-5889-4463] synonym: "Periorbital melanosis" EXACT [ORCID:0000-0001-5889-4463] synonym: "Pigmentation around the eyes" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1844606 is_a: HP:0000606 ! Abnormality of the periorbital region is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001107 name: Ocular albinism alt_id: HP:0007745 alt_id: HP:0007837 def: "An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina." [HPO:probinson] comment: Ocular pigmentation is essential for normal vision, and persons with ocular albinism tend to have severely reduced visual acuity often associated with nystagmus, strabismus, and photophobia. synonym: "Absent pigmentation in the eye" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Albinism, Ocular" EXACT [] xref: MSH:D016117 xref: SNOMEDCT_US:26399002 xref: UMLS:C0078917 is_a: HP:0001098 ! Abnormal fundus morphology is_a: HP:0007730 ! Iris hypopigmentation [Term] id: HP:0001112 name: Leber optic atrophy alt_id: HP:0001086 def: "Degeneration of retinal ganglion cells and their axons." [HPO:probinson] synonym: "Leber optic atrophy features" EXACT [] synonym: "Leber optic degeneration" EXACT [ORCID:0000-0001-5208-3432] xref: MSH:D029242 xref: SNOMEDCT_US:58610003 xref: UMLS:C0917796 is_a: HP:0000587 ! Abnormality of the optic nerve [Term] id: HP:0001113 name: obsolete Early cataracts is_obsolete: true replaced_by: HP:0000518 [Term] id: HP:0001114 name: Xanthelasma def: "The presence of xanthomata in the skin of the eyelid." [HPO:curators] synonym: "Fatty deposits in skin around the eyes" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Fatty deposits on eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Xanthelasma of eyelid" NARROW [ORCID:0000-0001-5889-4463] synonym: "Xanthelasma of periocular region" NARROW [ORCID:0000-0001-5889-4463] synonym: "Xanthelasma palpebrarum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Xanthoma" EXACT [ORCID:0000-0001-5889-4463] synonym: "Xanthoma of eyelid" NARROW [ORCID:0000-0001-5889-4463] synonym: "Xanthoma of periocular region" NARROW [ORCID:0000-0001-5889-4463] xref: MSH:D014973 xref: SNOMEDCT_US:63103006 xref: SNOMEDCT_US:6400008 xref: SNOMEDCT_US:75594004 xref: UMLS:C0155210 xref: UMLS:C0302314 xref: UMLS:C4280601 xref: UMLS:C4280602 is_a: HP:0000991 ! Xanthomatosis is_a: HP:0010732 ! Nodular changes affecting the eyelids [Term] id: HP:0001115 name: Posterior polar cataract def: "A polar cataract that affects the posterior pole of the lens." [HPO:probinson] xref: UMLS:C1850191 is_a: HP:0010696 ! Polar cataract [Term] id: HP:0001116 name: Macular coloboma def: "A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented." [DDD:gblack, PMID:15069441] xref: MSH:C535968 xref: UMLS:C1852767 is_a: HP:0000480 ! Retinal coloboma is_a: HP:0001103 ! Abnormal macular morphology [Term] id: HP:0001117 name: Sudden loss of visual acuity def: "Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy." [HPO:probinson] synonym: "Sudden central visual loss" RELATED [] synonym: "Sudden decrease in vision" BROAD layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4025803 xref: UMLS:C4072828 xref: UMLS:C4280600 is_a: HP:0007663 ! Reduced visual acuity [Term] id: HP:0001118 name: Juvenile cataract def: "A type of cataract that is not apparent at birth but that arises in childhood or adolescence." [HPO:probinson] comment: Juvenile cataracts are generally either hereditary (especially if bilateral) or due to trauma (especially if unilateral). xref: SNOMEDCT_US:399336001 xref: UMLS:C0302254 is_a: HP:0000518 ! Cataract [Term] id: HP:0001119 name: Keratoglobus def: "Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea." [pmid:19667340] subset: hposlim_core xref: UMLS:C3887531 is_a: HP:0007700 ! Ocular anterior segment dysgenesis is_a: HP:0100689 ! Decreased corneal thickness is_a: HP:0100692 ! Increased corneal curvature [Term] id: HP:0001120 name: Abnormality of corneal size def: "Any abnormality of the size or morphology of the cornea." [HPO:curators] xref: UMLS:C4025802 is_a: HP:0000481 ! Abnormal cornea morphology [Term] id: HP:0001122 name: obsolete Aplasia/Hypoplasia of the choroid is_obsolete: true consider: HP:0000610 [Term] id: HP:0001123 name: Visual field defect synonym: "Partial loss of field of vision" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Visual field defects" EXACT [HPO:skoehler] xref: SNOMEDCT_US:12184005 xref: UMLS:C3887875 is_a: HP:0000505 ! Visual impairment [Term] id: HP:0001125 name: Transient unilateral blurring of vision alt_id: HP:0000583 def: "Transient blurring of vision associated with the aura phase of migraine." [HPO:probinson] comment: The anterior segment comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens. synonym: "Hemianopic blurring" RELATED [] synonym: "Hemianoptic blurring of vision" EXACT [] synonym: "Transient unilateral blurred vision" EXACT [] xref: UMLS:C1865332 is_a: HP:0000622 ! Blurred vision [Term] id: HP:0001126 name: Cryptophthalmos alt_id: HP:0008032 def: "Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity." [HPO:probinson, pmid:19125427] comment: Failure of eyelid formation. Crypopthalmos is typically associated with a rudimentary or small globe. Frequently, a tuft of hair accompanies the aberrant skin. subset: hposlim_core xref: SNOMEDCT_US:400951005 xref: UMLS:C0311249 is_a: HP:0011226 ! Aplasia/Hypoplasia of the eyelid [Term] id: HP:0001128 name: Trichiasis def: "Inversion and rubbing of the eyelashes against the globe of the eye." [HPO:curators] comment: Eyelash inversion. synonym: "Ingrown eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Introversion of eyelashes" EXACT [ORCID:0000-0001-5889-4463] synonym: "Trichiasis of eyelid eyelashes" EXACT [] xref: MSH:D058457 xref: SNOMEDCT_US:60332004 xref: UMLS:C0221259 is_a: HP:0000499 ! Abnormal eyelash morphology [Term] id: HP:0001129 name: Large central visual field defect synonym: "Large central loss of field of vision" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4025800 is_a: HP:0001123 ! Visual field defect [Term] id: HP:0001131 name: Corneal dystrophy alt_id: HP:0007775 def: "An abnormality of the cornea that is characterized by opacity of one or parts of the cornea." [HPO:probinson] subset: hposlim_core xref: SNOMEDCT_US:5587004 xref: UMLS:C0010036 is_a: HP:0000481 ! Abnormal cornea morphology [Term] id: HP:0001132 name: Lens subluxation def: "Partial dislocation of the lens of the eye." [HPO:probinson] comment: Partial dislocation of the lens of the eye can be recognized by trembling of the iris (iridodonesis). synonym: "Partially dislocated lens" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D007906 xref: SNOMEDCT_US:65814009 xref: UMLS:C0023316 is_a: HP:0001083 ! Ectopia lentis [Term] id: HP:0001133 name: Constriction of peripheral visual field alt_id: HP:0007887 alt_id: HP:0007981 def: "An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye." [ORCID:0000-0003-0986-4123] synonym: "Concentric narrowing of visual field" EXACT [] synonym: "Constricted visual field" EXACT [] synonym: "Constricted visual fields" EXACT [HPO:skoehler] synonym: "Limited peripheral vision" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Visual field constriction" EXACT [] xref: SNOMEDCT_US:1151008 xref: SNOMEDCT_US:267628004 xref: UMLS:C0235095 is_a: HP:0001123 ! Visual field defect [Term] id: HP:0001134 name: Anterior polar cataract def: "A polar cataract that affects the anterior pole of the lens." [HPO:probinson] xref: MSH:C538282 xref: UMLS:C1855179 is_a: HP:0010696 ! Polar cataract [Term] id: HP:0001135 name: Chorioretinal dystrophy alt_id: HP:0007712 alt_id: HP:0007920 xref: UMLS:C1857627 is_a: HP:0000532 ! Abnormal chorioretinal morphology is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0001136 name: Retinal arteriolar tortuosity def: "The presence of an increased number of twists and turns of the retinal arterioles." [HPO:probinson] synonym: "Tortuous retinal arterioles" EXACT [] xref: UMLS:C1843517 is_a: HP:0000630 ! Abnormal retinal artery morphology is_a: HP:0012841 ! Retinal vascular tortuosity [Term] id: HP:0001137 name: Alternating esotropia def: "Esotropia in which either eye may be used for fixation." [ORCID:0000-0003-0986-4123] comment: Alternating suggests that the patient may be using either eye to fixate (which means that you do not have the same one eye squinting all the time). synonym: "Alternating cross eyes" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:39837002 xref: UMLS:C0152205 is_a: HP:0000565 ! Esotropia [Term] id: HP:0001138 name: Optic neuropathy alt_id: HP:0007806 synonym: "Damaged optic nerve" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:82108004 xref: UMLS:C3887709 is_a: HP:0000587 ! Abnormality of the optic nerve [Term] id: HP:0001139 name: Choroideremia xref: MSH:D015794 xref: SNOMEDCT_US:75241009 xref: UMLS:C0008525 is_a: HP:0000610 ! Abnormal choroid morphology [Term] id: HP:0001140 name: Limbal dermoid def: "A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid)." [HPO:probinson] subset: hposlim_core synonym: "Benign eye tumor" BROAD layperson [ORCID:0000-0001-6908-9849] synonym: "Epibulbar dermoid" EXACT [] synonym: "Epibulbar dermoids" EXACT HP:0045078 [] xref: SNOMEDCT_US:5131000119107 xref: SNOMEDCT_US:92097004 xref: UMLS:C0496897 xref: UMLS:C1867616 is_a: HP:0000481 ! Abnormal cornea morphology is_a: HP:0000502 ! Abnormal conjunctiva morphology is_a: HP:0000591 ! Abnormal sclera morphology [Term] id: HP:0001141 name: Severely reduced visual acuity alt_id: HP:0007640 alt_id: HP:0007842 alt_id: HP:0007951 alt_id: HP:0008023 def: "Severe reduction of the ability to see defined as visual acuity less than 6/60 (20/200 in US notation; 0.1 in decimal notation) but at least 3/60 (20/400 in US notation; 0.05 in decimal notation)." [PMID:28779882] synonym: "Marked vision impairment" EXACT layperson [] synonym: "Severe reduction in visual acuity" EXACT [] synonym: "Severe vision loss" EXACT [] synonym: "Severe visual impairment" EXACT layperson [] synonym: "Severe visual loss" EXACT [] synonym: "Severely impaired vision" EXACT layperson [] xref: SNOMEDCT_US:397541004 xref: UMLS:C1301509 is_a: HP:0007663 ! Reduced visual acuity [Term] id: HP:0001142 name: Lenticonus def: "A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly." [DDD:ncarter] comment: A conical projection of the anterior or posterior surface of the lens. subset: hposlim_core xref: SNOMEDCT_US:253221000 xref: UMLS:C0239119 is_a: HP:0011526 ! Abnormality of lens shape [Term] id: HP:0001144 name: Orbital cyst def: "Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium)." [HPO:probinson] synonym: "Cyst of eye socket" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Orbital cysts" EXACT [] xref: SNOMEDCT_US:31021007 xref: UMLS:C0155285 is_a: HP:0000315 ! Abnormality of the orbital region [Term] id: HP:0001145 name: obsolete Chorioretinopathy is_obsolete: true consider: HP:0000532 [Term] id: HP:0001146 name: obsolete Pigmentary retinal degeneration is_obsolete: true replaced_by: HP:0000580 [Term] id: HP:0001147 name: Retinal exudate def: "Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina." [HPO:probinson] comment: Retinal exudates indicate increased vessel permeability and an associated risk of retinal edema. synonym: "Retinal exudates" EXACT [] xref: SNOMEDCT_US:39832008 xref: UMLS:C0240897 is_a: HP:0030506 ! Yellow/white lesions of the retina [Term] id: HP:0001149 name: Lattice corneal dystrophy def: "The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea." [HPO:curators] synonym: "Biber haab dimmer dystrophy" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:D028227 xref: SNOMEDCT_US:1192004 xref: SNOMEDCT_US:361199007 xref: UMLS:C0155127 is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0001150 name: obsolete Choroidal sclerosis is_obsolete: true consider: HP:0000532 [Term] id: HP:0001151 name: Impaired horizontal smooth pursuit def: "An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects." [HPO:probinson] synonym: "Abnormal horizontal ocular pursuit" EXACT [] synonym: "Impaired horizontal visual pursuit" EXACT [] xref: UMLS:C1866753 is_a: HP:0007772 ! Impaired smooth pursuit [Term] id: HP:0001152 name: Saccadic smooth pursuit alt_id: HP:0000530 def: "An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements." [HPO:probinson] comment: Tracking eye movements consist of two different components, namely, smooth pursuit and saccades. Smooth pursuit, or just pursuit, is a class of rather slow eye movements that minimizes retinal target motion. Saccades are rapid eye movements that align the fovea with the target. synonym: "Saccadic pursuit movements" EXACT [] synonym: "Saccadic slow pursuit" EXACT [] xref: UMLS:C1836479 is_a: HP:0000617 ! Abnormality of ocular smooth pursuit [Term] id: HP:0001153 name: Septate vagina def: "The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases." [HPO:curators] synonym: "Double vagina" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:47054003 xref: UMLS:C0266411 is_a: HP:0000142 ! Abnormal vagina morphology [Term] id: HP:0001155 name: Abnormality of the hand alt_id: HP:0005858 def: "An abnormality affecting one or both hands." [HPO:probinson] subset: hposlim_core synonym: "Abnormal hands" EXACT layperson [HPO:skoehler] synonym: "Abnormality of the hand" EXACT layperson [] synonym: "Hand anomalies" EXACT layperson [] synonym: "Hand deformities" EXACT layperson [] xref: MSH:D006226 xref: SNOMEDCT_US:299033004 xref: UMLS:C0018564 is_a: HP:0002817 ! Abnormality of the upper limb [Term] id: HP:0001156 name: Brachydactyly alt_id: HP:0001189 alt_id: HP:0001201 alt_id: HP:0005630 alt_id: HP:0005657 alt_id: HP:0005727 alt_id: HP:0006017 alt_id: HP:0006128 alt_id: HP:0100667 def: "Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here." [HPO:probinson] synonym: "Brachydactyly syndrome" EXACT [] synonym: "Short fingers or toes" EXACT layperson [orcid.org/0000-0002-6548-5200] xref: MSH:D059327 xref: SNOMEDCT_US:43476002 xref: UMLS:C0221357 is_a: HP:0011927 ! Short digit [Term] id: HP:0001159 name: Syndactyly alt_id: HP:0001206 alt_id: HP:0001236 def: "Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as \"symphalangism\"." [HPO:probinson] comment: Syndactyly may be partial or complete. In complete syndactyly, the skin is joined all the way to the fingertip. In partial (incomplete) syndactyly, the skin is only joined part of the distance to the fingertip. synonym: "Webbed fingers or toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: Fyler:4174 xref: MSH:D013576 xref: SNOMEDCT_US:373413006 xref: UMLS:C0039075 is_a: HP:0011297 ! Abnormal digit morphology [Term] id: HP:0001161 name: Hand polydactyly def: "A kind of polydactyly characterized by the presence of a supernumerary finger or fingers." [HPO:probinson] subset: hposlim_core synonym: "Extra finger" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Finger polydactyly" EXACT [] synonym: "Polydactyly of the hand" EXACT [] synonym: "Supernumerary finger" EXACT [ORCID:0000-0001-6908-9849] xref: MEDDRA:10036064 "Polydactyly of fingers" xref: SNOMEDCT_US:81793007 xref: UMLS:C0158733 is_a: HP:0009997 ! Duplication of phalanx of hand is_a: HP:0010442 ! Polydactyly [Term] id: HP:0001162 name: Postaxial hand polydactyly alt_id: HP:0004698 alt_id: HP:0005763 alt_id: HP:0009984 def: "Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger)." [HPO:sdoelken] subset: hposlim_core synonym: "Extra little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Extra pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Extra pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Polydactyly affecting the 5th finger" EXACT [] synonym: "Polydactyly, postaxial" EXACT [] synonym: "Postaxial polydactyly of fingers" EXACT [] synonym: "Postaxial polydactyly of hand" EXACT [] synonym: "Postaxial polydactyly of hands" EXACT [] xref: SNOMEDCT_US:205131007 xref: UMLS:C0431904 is_a: HP:0001161 ! Hand polydactyly is_a: HP:0004207 ! Abnormal 5th finger morphology is_a: HP:0100259 ! Postaxial polydactyly [Term] id: HP:0001163 name: Abnormality of the metacarpal bones def: "An abnormality of the metacarpal bones." [HPO:probinson] synonym: "Abnormality of the long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Anomaly of the metacarpal bones" EXACT [] xref: UMLS:C4021785 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0040070 ! Abnormal upper limb bone morphology [Term] id: HP:0001166 name: Arachnodactyly alt_id: HP:0001505 def: "Abnormally long and slender fingers (\"spider fingers\")." [HPO:probinson] synonym: "Long slender fingers" EXACT layperson [] synonym: "Long, slender fingers" EXACT [] synonym: "Spider fingers" EXACT layperson [] xref: MSH:D054119 xref: SNOMEDCT_US:62250003 xref: UMLS:C0003706 is_a: HP:0001238 ! Slender finger is_a: HP:0100807 ! Long fingers [Term] id: HP:0001167 name: Abnormality of finger alt_id: HP:0003035 def: "An anomaly of a finger." [HPO:probinson] synonym: "Abnormalities of the fingers" EXACT layperson [] synonym: "Abnormality of finger" EXACT layperson [] xref: UMLS:C2674737 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0011297 ! Abnormal digit morphology [Term] id: HP:0001169 name: Broad palm alt_id: HP:0001174 def: "For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length." [HPO:probinson, pmid:19125433] comment: Hand width is measured across the palm at the level of the MCPJ (radial aspect of the second MCPJ to the ulnar aspect of the fifth MCPJ) [Hall et al., 2007]. Caution is advised with the subjective assessment as short metacarpals can mimic a broad palm. In persons with polydactyly that includes a supernumerary metacarpal, that should be separately coded and the measurement technique from Hall et al, [2007] would need to be modified to account for the supernumerary digit (i.e., with postaxial polydactyly, measure to the sixth MCPJ). synonym: "Broad hand" EXACT layperson [] synonym: "Broad hands" EXACT layperson [HPO:skoehler] synonym: "Broad palm" EXACT layperson [] synonym: "Wide palm" EXACT layperson [] xref: SNOMEDCT_US:48251003 xref: UMLS:C0264142 is_a: HP:0100871 ! Abnormality of the palm [Term] id: HP:0001171 name: Split hand alt_id: HP:0001247 alt_id: HP:0003050 def: "A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands." [HPO:sdoelken] synonym: "Claw hand" EXACT layperson [] synonym: "Claw hand deformities" EXACT layperson [] synonym: "Claw hands" EXACT layperson [] synonym: "Claw-hand deformities" EXACT layperson [] synonym: "Ectrodactyly of the hand" EXACT [] synonym: "Hand ectrodactyly" EXACT [] synonym: "Split hand" EXACT layperson [] synonym: "Split-hand" EXACT layperson [] xref: SNOMEDCT_US:299034005 xref: UMLS:C0221373 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0100257 ! Ectrodactyly [Term] id: HP:0001172 name: Abnormal thumb morphology def: "An abnormal structure of the first digit of the hand." [] synonym: "Abnormality of the thumb" EXACT layperson [] synonym: "Abnormality of the thumbs" EXACT layperson [] synonym: "Thumb deformity" EXACT layperson [] xref: MSH:C536903 xref: SNOMEDCT_US:299130003 xref: UMLS:C0575897 is_a: HP:0001167 ! Abnormality of finger [Term] id: HP:0001176 name: Large hands alt_id: HP:0002820 alt_id: HP:0006044 alt_id: HP:0006219 synonym: "Disproportionately large hands" EXACT [] synonym: "large hand" EXACT layperson [] synonym: "Large hands" EXACT layperson [] xref: SNOMEDCT_US:249752003 xref: UMLS:C0426870 is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0001177 name: Preaxial hand polydactyly alt_id: HP:0005629 alt_id: HP:0005634 alt_id: HP:0006182 alt_id: HP:0009604 def: "Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits." [HPO:probinson] synonym: "Extra thumb" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Polydactyly affecting the thumb" EXACT [] synonym: "Preaxial polydactyly of hands" EXACT [] synonym: "Supernumerary thumb" EXACT [ORCID:0000-0001-6908-9849] synonym: "thumb polydactyly" EXACT [] xref: MSH:C536332 xref: SNOMEDCT_US:205135003 xref: SNOMEDCT_US:445216006 xref: UMLS:C1395852 is_a: HP:0001161 ! Hand polydactyly is_a: HP:0001172 ! Abnormal thumb morphology is_a: HP:0100258 ! Preaxial polydactyly [Term] id: HP:0001178 name: Ulnar claw def: "An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm." [HPO:probinson] comment: An ulnar claw, also known as claw hand, is an abnormal hand position that is associated with lesions of the ulnar nerve. Note that ulnar claw is to be distinguished from ectrodactyly, which also can be referred to as claw hand. xref: UMLS:C4025799 is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0001180 name: Hand oligodactyly def: "A developmental defect resulting in the presence of fewer than the normal number of fingers." [HPO:probinson] synonym: "Hand has less than 5 fingers" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:71358006 xref: UMLS:C0728895 is_a: HP:0009380 ! Aplasia of the fingers is_a: HP:0012165 ! Oligodactyly [Term] id: HP:0001181 name: Adducted thumb alt_id: HP:0005646 def: "In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger." [pmid:19125433] comment: The thumb is both flexed and adducted. Lesser degrees of adduction than that specified here may warrant the use of this term, for example, when the tip of the thumb lies near the base of F2 or F3. synonym: "Adducted thumbs" EXACT [] synonym: "Inward turned thumb" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C3554617 is_a: HP:0001172 ! Abnormal thumb morphology [Term] id: HP:0001182 name: Tapered finger alt_id: HP:0005795 alt_id: HP:0005800 alt_id: HP:0006032 alt_id: HP:0006080 alt_id: HP:0006098 alt_id: HP:0006111 alt_id: HP:0006125 alt_id: HP:0006244 alt_id: HP:0007532 def: "The gradual reduction in girth of the finger from proximal to distal." [pmid:19125433] subset: hposlim_core synonym: "Distally tapering fingers" EXACT [] synonym: "Tapered finger" EXACT layperson [] synonym: "Tapered fingers" RELATED [HPO:skoehler] synonym: "Tapered fingertips" EXACT layperson [] synonym: "Tapering fingers" EXACT layperson [] xref: SNOMEDCT_US:249768009 xref: UMLS:C0426886 is_a: HP:0100807 ! Long fingers [Term] id: HP:0001187 name: Hyperextensibility of the finger joints alt_id: HP:0006158 def: "The ability of the finger joints to move beyond their normal range of motion." [HPO:curators] synonym: "Finger joint hyperextensibility" EXACT layperson [] synonym: "Hyperextensible digits" EXACT layperson [] synonym: "Hyperextensible finger" EXACT layperson [] synonym: "Hyperextensible fingers" RELATED layperson [] xref: UMLS:C1844577 is_a: HP:0006094 ! Finger joint hypermobility [Term] id: HP:0001188 name: Hand clenching def: "An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints." [HPO:sdoelken, pmid:10085502] comment: Hand clenching is commonly characterized by malpositioning of the fingers characterized by radial deviation of the 4th and 5th digits and ulnar deviation of the 2nd digit over the 3rd finger. Hand clenching is distinguished from Camptodactyly, as that term may describe fewer than five digits of a eudactylous hand and does not involve the MCPJ. The digits may overlap when they lie flexed in the palm. It is not necessary to specify the overlapping fingers finding separately. subset: hposlim_core synonym: "Clenched hands" EXACT layperson [] synonym: "Hand clenching" EXACT layperson [] xref: UMLS:C0239815 is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0001191 name: Abnormality of the carpal bones def: "An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate)." [HPO:probinson] subset: hposlim_core synonym: "Abnormal carpal bones" EXACT [] synonym: "Abnormal wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Anomalous carpal bones" EXACT [] synonym: "Carpal bone anomalies" EXACT [] xref: UMLS:C1840535 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0001193 name: Ulnar deviation of the hand or of fingers of the hand xref: UMLS:C4048199 is_a: HP:0009484 ! Deviation of the hand or of fingers of the hand [Term] id: HP:0001194 name: Abnormalities of placenta or umbilical cord def: "An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta)." [HPO:curators] synonym: "Abnormalities of placenta or umbilical cord" EXACT layperson [] xref: UMLS:C4025798 is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0001195 name: Single umbilical artery def: "Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord." [HPO:probinson] comment: The umbilical cord normally has two arteries and one vein. synonym: "2 vessel cord" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "2 vessel umbilical cord" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Only one artery in umbilical cord instead of two" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Two vessel cord" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Two vessel umbilical cord" EXACT [https://orcid.org/0000-0001-5208-3432] xref: MSH:D058529 xref: SNOMEDCT_US:204470001 xref: UMLS:C1384670 is_a: HP:0010948 ! Abnormality of the fetal cardiovascular system is_a: HP:0011403 ! Abnormal umbilical cord blood vessels is_a: HP:0011425 ! Fetal ultrasound soft marker [Term] id: HP:0001196 name: Short umbilical cord def: "Decreased length of the umbilical cord." [HPO:probinson] synonym: "Short umbilical cord" EXACT layperson [] xref: SNOMEDCT_US:59795007 xref: UMLS:C0266786 is_a: HP:0010881 ! Abnormality of the umbilical cord [Term] id: HP:0001197 name: Abnormality of prenatal development or birth def: "An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities." [HPO:probinson] comment: Because of the close link between prenatal developmental abnormalities and abnormalities of the birth process, a single term is chosen to subsume both classes of abnormality. synonym: "Abnormality of prenatal development or birth" EXACT layperson [] xref: UMLS:C4025797 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001199 name: Triphalangeal thumb alt_id: HP:0005846 alt_id: HP:0006194 alt_id: HP:0009610 alt_id: HP:0009619 def: "A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb." [HPO:probinson, pmid:19125433] comment: The requirement for a single PD axis relates to the issue that partial forms of Preaxial polydactyly may comprise a partially duplicated thumb with two distal phalanges and a single proximal phalanx. That finding is instead coded as a mild form of thumb polydactyly. Note that this finding can be readily assessed by examination and/or physical manipulation of the thumb. subset: hposlim_core synonym: "Accessory phalanx of the thumb" EXACT [] synonym: "Digitalized thumb" EXACT [] synonym: "Finger-like thumb" EXACT layperson [] synonym: "Triphalangeal thumbs" EXACT [] synonym: "Triphalangy of thumb" EXACT [] xref: MSH:C573898 xref: SNOMEDCT_US:205308004 xref: UMLS:C0241397 is_a: HP:0009602 ! Abnormality of thumb phalanx [Term] id: HP:0001204 name: Distal symphalangism of hands alt_id: HP:0006079 alt_id: HP:0006116 alt_id: HP:0009841 alt_id: HP:0009871 def: "The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases." [HPO:sdoelken] synonym: "Fused outermost bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Symphalangism affecting the distal phalanges of the hand" EXACT [] synonym: "Symphalangism, distal" EXACT [] synonym: "Synostosis of distal phalanges" EXACT [] synonym: "Terminal symphalangism" EXACT [] xref: UMLS:C1862158 is_a: HP:0009700 ! Finger symphalangism is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger is_a: HP:0100263 ! Distal symphalangism [Term] id: HP:0001211 name: Abnormal fingertip morphology def: "An abnormal structure of the tip (end) of a finger." [] synonym: "Abnormality of the fingertips" EXACT layperson [] xref: UMLS:C4025796 is_a: HP:0001167 ! Abnormality of finger [Term] id: HP:0001212 name: Prominent fingertip pads alt_id: HP:0001235 def: "A soft tissue prominence of the ventral aspects of the fingertips. The term \"persistent fetal fingertip pads\" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist." [HPO:probinson] subset: hposlim_core synonym: "Persistence of fingerpads" EXACT [] synonym: "Persistent fetal fingertip pads" EXACT [] synonym: "Prominent finger pads" EXACT layperson [] synonym: "Prominent fingertip pads" EXACT layperson [] xref: UMLS:C1835807 is_a: HP:0001211 ! Abnormal fingertip morphology is_a: HP:0011298 ! Prominent digit pad [Term] id: HP:0001215 name: Camptodactyly of 2nd-5th fingers def: "The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension." [HPO:probinson] xref: UMLS:C1859368 is_a: HP:0100490 ! Camptodactyly of finger [Term] id: HP:0001216 name: Delayed ossification of carpal bones def: "Ossification of carpal bones occurs later than age-adjusted norms." [HPO:probinson] subset: hposlim_core synonym: "Carpal delayed ossification" EXACT [] synonym: "Delayed carpal bone age" EXACT [] synonym: "Delayed carpal ossification" EXACT [] synonym: "Delayed maturation of carpal bones" EXACT [] synonym: "Delayed maturation of wrist bone" RELATED layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1841684 xref: UMLS:C4280599 is_a: HP:0006257 ! Abnormality of carpal bone ossification [Term] id: HP:0001217 name: Clubbing alt_id: HP:0003036 alt_id: HP:0005874 def: "Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails." [HPO:sdoelken, pmid:19125433] comment: Non-edematous swelling/broadening of the soft tissue of the fingertips in all dimensions (distal phalanges of the fingers). synonym: "Clubbing of fingers and toes" EXACT layperson [] synonym: "Digital clubbing" EXACT [] xref: SNOMEDCT_US:367004 xref: UMLS:C0149651 is_a: HP:0011297 ! Abnormal digit morphology [Term] id: HP:0001218 name: Autoamputation def: "Spontaneous detachment (amputation) of an appendage from the body." [HPO:probinson] xref: UMLS:C1833222 is_a: HP:0040064 ! Abnormality of limbs [Term] id: HP:0001220 name: Interphalangeal joint contracture of finger def: "Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue." [HPO:probinson] synonym: "Interphalangeal joint flexion contractures" EXACT [] xref: UMLS:C4021784 is_a: HP:0012785 ! Flexion contracture of finger [Term] id: HP:0001222 name: Spatulate thumbs def: "Spoon-shaped, broad thumbs." [HPO:curators] synonym: "Spoon shaped thumbs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C0241395 is_a: HP:0011304 ! Broad thumb [Term] id: HP:0001223 name: Pointed proximal second through fifth metacarpals def: "All of the metacarpal bones of the hand have a pointed proximal appearance." [HPO:curators] xref: UMLS:C1854787 is_a: HP:0006119 ! Proximal tapering of metacarpals [Term] id: HP:0001225 name: Wrist swelling synonym: "Wrist swelling" EXACT layperson [] xref: UMLS:C0241760 is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0001226 name: obsolete Acral ulceration and osteomyelitis leading to autoamputation of digits is_obsolete: true replaced_by: HP:0006121 [Term] id: HP:0001227 name: Abnormality of the thenar eminence def: "An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb." [HPO:curators] synonym: "Thenar abnormality" EXACT [] xref: UMLS:C4021783 is_a: HP:0001421 ! Abnormality of the musculature of the hand [Term] id: HP:0001230 name: Broad metacarpals alt_id: HP:0006024 alt_id: HP:0006065 def: "Abnormally broad metacarpal bones." [HPO:probinson] subset: hposlim_core synonym: "Wide long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide metacarpals" EXACT [] xref: UMLS:C1842229 is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0001231 name: Abnormal fingernail morphology def: "An abnormality of the fingernails." [HPO:probinson] synonym: "Abnormal fingernails" EXACT layperson [HPO:skoehler] synonym: "Abnormality of the fingernails" EXACT layperson [] xref: UMLS:C4021782 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001232 name: Nail bed telangiectasia def: "Telangiectases in the area of the nails." [HPO:probinson] synonym: "Nail bed telangiectases" EXACT [] xref: UMLS:C1838167 is_a: HP:0001009 ! Telangiectasia is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001233 name: 2-3 finger syndactyly alt_id: HP:0006039 alt_id: HP:0006122 def: "Syndactyly with fusion of fingers two and three." [HPO:sdoelken] synonym: "Syndactyly 2nd-3rd fingers" EXACT [] synonym: "Syndactyly, 2-3 finger" EXACT [] synonym: "Webbed 2nd-3rd fingers" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:205139009 xref: UMLS:C0432055 is_a: HP:0006101 ! Finger syndactyly [Term] id: HP:0001234 name: Hitchhiker thumb def: "With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand." [HPO:probinson, pmid:19125433] comment: The condition known as "hitchhiker's thumb" means, that the distal phalanx of the thumb, when the thumb is extended (as in a "thumbs-up"), can extend backwards toward the nail and outwards at an angle of up to, or more than, 90 degrees from the thumb, whereas normally it will extend straight out with little backward bending. subset: hposlim_core synonym: "Abducted thumb" EXACT [] synonym: "Hitchhiker thumb" EXACT layperson [] xref: UMLS:C1857269 is_a: HP:0009466 ! Radial deviation of finger is_a: HP:0009603 ! Deviation of the thumb is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb [Term] id: HP:0001238 name: Slender finger def: "Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual." [pmid:19125433] subset: hposlim_core synonym: "Narrow fingers" EXACT layperson [] synonym: "Slender finger" EXACT layperson [] synonym: "Slender fingers" EXACT layperson [HPO:skoehler] synonym: "thin fingers" EXACT layperson [] xref: UMLS:C1857482 is_a: HP:0001167 ! Abnormality of finger [Term] id: HP:0001239 name: Wrist flexion contracture alt_id: HP:0006049 alt_id: HP:0006137 def: "A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist." [HPO:probinson] synonym: "Wrist contracture" EXACT [] synonym: "Wrist flexion deformity" EXACT [] xref: SNOMEDCT_US:202275008 xref: UMLS:C0409345 is_a: HP:0003019 ! Abnormality of the wrist is_a: HP:0100360 ! Contractures of the joints of the upper limbs [Term] id: HP:0001241 name: Capitate-hamate fusion synonym: "Capitate-hamate fusions" EXACT [] synonym: "Fused capitate and hamate" EXACT [] synonym: "Fusion of capitate and hamate" EXACT [] synonym: "Fusion of hamate and capitate" EXACT [] xref: UMLS:C1857002 is_a: HP:0004259 ! Abnormality of the hamate bone is_a: HP:0004262 ! Abnormality of the capitate bone is_a: HP:0009702 ! Carpal synostosis [Term] id: HP:0001245 name: Small thenar eminence alt_id: HP:0006188 def: "Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb." [HPO:probinson, pmid:19125433] comment: The reduced soft tissue is typically abductor pollicis brevis and flexor pollicis brevis muscle bulk. Detection of this abnormality entails clinical judgment, especially in mild cases. The bulk of the muscle mass around the base of the thumb is diminished, and there may be a mild concavity over the volar aspect of the first metacarpal. When the deficiency is unilateral, comparison between the two hands will point up the often-subtle change in contour of the thenar muscles. If the degree of involvement is severe, the palm may taper in width proximally. subset: hposlim_core synonym: "Decreased thenar eminence" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Hypoplastic thenar eminences" EXACT [] synonym: "Thenar hypoplasia" EXACT [] synonym: "Thenar muscle hypoplasia" EXACT [] xref: UMLS:C1846474 is_a: HP:0001227 ! Abnormality of the thenar eminence [Term] id: HP:0001248 name: Short tubular bones of the hand def: "Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals." [HPO:probinson] synonym: "Shortened short tubular bones of the hand" EXACT [] xref: UMLS:C4025795 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0003026 ! Short long bone [Term] id: HP:0001249 name: Intellectual disability alt_id: HP:0000730 alt_id: HP:0001267 alt_id: HP:0001286 alt_id: HP:0002122 alt_id: HP:0002192 alt_id: HP:0002316 alt_id: HP:0002382 alt_id: HP:0002386 alt_id: HP:0002402 alt_id: HP:0002458 alt_id: HP:0002482 alt_id: HP:0002499 alt_id: HP:0002543 alt_id: HP:0003767 alt_id: HP:0006833 alt_id: HP:0006877 alt_id: HP:0007154 alt_id: HP:0007176 alt_id: HP:0007180 def: "Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70." [HPO:probinson] comment: This term should be used for children at least five years old. For younger children, consider the term Global developmental delay (HP:0001263). synonym: "Dull intelligence" RELATED [] synonym: "Intellectual disability" EXACT layperson [] synonym: "Low intelligence" RELATED layperson [] synonym: "Mental deficiency" EXACT layperson [] synonym: "Mental retardation" EXACT layperson [] synonym: "Mental retardation, nonspecific" EXACT layperson [] synonym: "Mental-retardation" EXACT layperson [] synonym: "Nonprogressive intellectual disability" EXACT [] synonym: "Nonprogressive mental retardation" EXACT [] synonym: "Poor school performance" RELATED layperson [] xref: MSH:D008607 xref: SNOMEDCT_US:228156007 xref: SNOMEDCT_US:247578003 xref: SNOMEDCT_US:91138005 xref: UMLS:C0025362 xref: UMLS:C0423903 xref: UMLS:C0917816 xref: UMLS:C1843367 xref: UMLS:C3714756 xref: UMLS:C4020876 is_a: HP:0012759 ! Neurodevelopmental abnormality [Term] id: HP:0001250 name: Seizures alt_id: HP:0001275 alt_id: HP:0001303 alt_id: HP:0002125 alt_id: HP:0002182 alt_id: HP:0002279 alt_id: HP:0002306 alt_id: HP:0002348 alt_id: HP:0002391 alt_id: HP:0002417 alt_id: HP:0002430 alt_id: HP:0002431 alt_id: HP:0002432 alt_id: HP:0002434 alt_id: HP:0002437 alt_id: HP:0002466 alt_id: HP:0002479 alt_id: HP:0002794 alt_id: HP:0006997 alt_id: HP:0010520 def: "Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures." [HPO:probinson] comment: The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold. synonym: "Epilepsy" RELATED layperson [] synonym: "Seizure" EXACT layperson [] synonym: "Seizures" EXACT layperson [] xref: MSH:D004827 xref: MSH:D012640 xref: SNOMEDCT_US:128613002 xref: SNOMEDCT_US:246545002 xref: SNOMEDCT_US:313307000 xref: SNOMEDCT_US:84757009 xref: SNOMEDCT_US:91175000 xref: UMLS:C0014544 xref: UMLS:C0036572 is_a: HP:0012638 ! Abnormality of nervous system physiology [Term] id: HP:0001251 name: Ataxia alt_id: HP:0001253 alt_id: HP:0002513 alt_id: HP:0007050 alt_id: HP:0007157 def: "Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly)." [HPO:probinson] comment: Ataxia can be differentiated into dyssynergy, asynergy, dysmetria (hypometria, hypermetria), dysdiadochokinesis, gait ataxia, truncal ataxia, limb ataxia, and dysarthria). Note: This term does not include sensory ataxia. synonym: "Cerebellar ataxia" EXACT [] xref: MSH:D002524 xref: SNOMEDCT_US:85102008 xref: UMLS:C0007758 is_a: HP:0011443 ! Abnormality of coordination [Term] id: HP:0001252 name: Muscular hypotonia alt_id: HP:0001318 def: "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] synonym: "Low or weak muscle tone" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Muscle hypotonia" EXACT [] xref: MSH:D009123 xref: SNOMEDCT_US:398151007 xref: SNOMEDCT_US:398152000 xref: UMLS:C0026827 is_a: HP:0003808 ! Abnormal muscle tone [Term] id: HP:0001254 name: Lethargy def: "A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating." [HPO:probinson] synonym: "Lethargy" EXACT layperson [] xref: MSH:D053609 xref: SNOMEDCT_US:214264003 xref: UMLS:C0023380 is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0001256 name: Intellectual disability, mild alt_id: HP:0006908 alt_id: HP:0007119 def: "Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:probinson] synonym: "Intellectual disability, mild" EXACT layperson [] synonym: "Mental retardation, borderline-mild" EXACT layperson [] synonym: "Mental retardation, mild" RELATED layperson [] synonym: "Mild and nonprogressive mental retardation" EXACT layperson [] synonym: "Mild mental retardation" EXACT layperson [] xref: SNOMEDCT_US:86765009 xref: UMLS:C0026106 is_a: HP:0001249 ! Intellectual disability [Term] id: HP:0001257 name: Spasticity def: "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:probinson] synonym: "Involuntary muscle stiffness, contraction, or spasm" EXACT layperson [orcid.org/0000-0002-6548-5200] synonym: "Muscle spasticity" EXACT [] synonym: "Muscular spasticity" EXACT [] xref: MSH:D009128 xref: SNOMEDCT_US:221360009 xref: SNOMEDCT_US:397790002 xref: UMLS:C0026838 is_a: HP:0001276 ! Hypertonia [Term] id: HP:0001258 name: Spastic paraplegia alt_id: HP:0007062 alt_id: HP:0007124 alt_id: HP:0007216 def: "Spasticity and weakness of the leg and hip muscles." [HPO:probinson] comment: This phenotypic feature is a major component of the disease hereditary spastic paraplegia, which has multiple distinct genetic etiologies. synonym: "Spastic paraplegia, lower limb" EXACT [] xref: MSH:D010264 xref: SNOMEDCT_US:192967009 xref: UMLS:C0037772 is_a: HP:0002061 ! Lower limb spasticity is_a: HP:0010550 ! Paraplegia [Term] id: HP:0001259 name: Coma def: "Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli." [HPO:probinson] comment: Coma is generally a result of diffuse or extensive involvement of both hemispheres of the brain or lesions in the brainstem. synonym: "Coma" EXACT layperson [] xref: ICD-10:R40.2 "Coma, unspecified" xref: MSH:D003128 xref: SNOMEDCT_US:371632003 xref: UMLS:C0009421 is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0001260 name: Dysarthria alt_id: HP:0002327 def: "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators] synonym: "Difficulty articulating speech" EXACT layperson [] synonym: "Dysarthric speech" EXACT [] xref: MSH:D004401 xref: SNOMEDCT_US:8011004 xref: UMLS:C0013362 is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0001262 name: Excessive daytime somnolence def: "A state of abnormally strong desire for sleep during the daytime." [] synonym: "More than typical sleepiness during day" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:271782001 xref: SNOMEDCT_US:79519003 xref: UMLS:C2830004 is_a: HP:0002360 ! Sleep disturbance is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0001263 name: Global developmental delay alt_id: HP:0000754 alt_id: HP:0001255 alt_id: HP:0001277 alt_id: HP:0001292 alt_id: HP:0002433 alt_id: HP:0002473 alt_id: HP:0002532 alt_id: HP:0006793 alt_id: HP:0006867 alt_id: HP:0006885 alt_id: HP:0006935 alt_id: HP:0007005 alt_id: HP:0007094 alt_id: HP:0007106 alt_id: HP:0007174 alt_id: HP:0007224 alt_id: HP:0007228 alt_id: HP:0007342 def: "A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age." [DDD:hvfirth, HPO:sdoelken] comment: Developmental retardation is any significant lag in development in the any or all of the physical, cognitive, behavioral, emotional, or social spheres. Note that the term intellectual disability (mental retardation) refers to not merely a delay in development but rather a permanent limitation. Note that the term 'psychomotor retardation' is also used in some contexts to refer to a slowing of thought and physical movements as a result of major depression or intoxication. synonym: "Cognitive delay" RELATED [] synonym: "Delayed cognitive development" EXACT [] synonym: "Delayed development" EXACT [] synonym: "Delayed developmental milestones" EXACT [] synonym: "Delayed intellectual development" EXACT [] synonym: "Delayed milestones" EXACT [] synonym: "Delayed psychomotor development" EXACT [] synonym: "Developmental delay" EXACT [] synonym: "Developmental delay in early childhood" EXACT [] synonym: "Developmental delay, global" EXACT [] synonym: "Developmental retardation" EXACT [] synonym: "Lack of psychomotor development" EXACT [] synonym: "Mental and motor retardation" RELATED [] synonym: "Motor and developmental delay" EXACT [] synonym: "Psychomotor delay" EXACT [] synonym: "Psychomotor development deficiency" EXACT [] synonym: "Psychomotor development failure" EXACT [] synonym: "Psychomotor developmental delay" EXACT [] synonym: "Retarded development" EXACT [] synonym: "Retarded mental development" EXACT [] synonym: "Retarded psychomotor development" EXACT [] xref: SNOMEDCT_US:224958001 xref: UMLS:C0557874 xref: UMLS:C1864897 xref: UMLS:C4020875 is_a: HP:0012758 ! Neurodevelopmental delay [Term] id: HP:0001264 name: Spastic diplegia def: "Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis." [HPO:curators] xref: MSH:D002547 xref: SNOMEDCT_US:281411007 xref: UMLS:C0023882 is_a: HP:0001257 ! Spasticity [Term] id: HP:0001265 name: Hyporeflexia alt_id: HP:0002467 def: "Reduction of neurologic reflexes such as the knee-jerk reaction." [HPO:probinson] synonym: "Decreased reflex response" EXACT layperson [] synonym: "Decreased reflexes" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:405946002 xref: UMLS:C0700078 is_a: HP:0001315 ! Reduced tendon reflexes [Term] id: HP:0001266 name: Choreoathetosis alt_id: HP:0002469 alt_id: HP:0006811 alt_id: HP:0007028 alt_id: HP:0007337 def: "Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements)." [HPO:probinson] synonym: "Choreoathetoid movements" EXACT [] xref: SNOMEDCT_US:43105007 xref: UMLS:C0085583 xref: UMLS:C0234967 is_a: HP:0002072 ! Chorea [Term] id: HP:0001268 name: Mental deterioration alt_id: HP:0002303 alt_id: HP:0006822 alt_id: HP:0007155 alt_id: HP:0007253 alt_id: HP:0007264 alt_id: HP:0007298 def: "Loss of previously present mental abilities, generally in adults." [HPO:probinson] synonym: "Cognitive decline" EXACT layperson [] synonym: "Cognitive decline, progressive" EXACT layperson [] synonym: "Intellectual deterioration" EXACT layperson [] synonym: "Mental deterioration" EXACT layperson [] synonym: "Progressive cognitive decline" EXACT layperson [] xref: MSH:D060825 xref: UMLS:C0234985 is_a: HP:0100543 ! Cognitive impairment [Term] id: HP:0001269 name: Hemiparesis def: "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength." [HPO:probinson, UKB:tklockgether] synonym: "Weakness of one side of body" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D010291 xref: SNOMEDCT_US:127377003 xref: SNOMEDCT_US:20022000 xref: UMLS:C0018989 is_a: HP:0004374 ! Hemiplegia/hemiparesis [Term] id: HP:0001270 name: Motor delay alt_id: HP:0001307 alt_id: HP:0002130 alt_id: HP:0006788 alt_id: HP:0006826 alt_id: HP:0006909 alt_id: HP:0006950 alt_id: HP:0006968 alt_id: HP:0007219 alt_id: HP:0007251 def: "A type of Developmental delay characterized by a delay in acquiring motor skills." [HPO:probinson] synonym: "Delay in motor development" EXACT [] synonym: "Delayed early motor milestones" EXACT [] synonym: "Delayed motor development" EXACT [] synonym: "Delayed motor milestones" EXACT [] synonym: "Locomotor delay" EXACT [] synonym: "Motor developmental delay" EXACT [] synonym: "Motor developmental milestones not achieved" EXACT [] synonym: "Motor retardation" EXACT [] synonym: "No development of motor milestones" RELATED [] synonym: "Retarded motor development" EXACT [] xref: UMLS:C1854301 xref: UMLS:C4020874 is_a: HP:0012758 ! Neurodevelopmental delay [Term] id: HP:0001271 name: Polyneuropathy alt_id: HP:0006941 alt_id: HP:0007287 def: "A generalized disorder of peripheral nerves." [HPO:curators] synonym: "Peripheral nerve disease" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D010523 xref: MSH:D011115 xref: SNOMEDCT_US:302226006 xref: SNOMEDCT_US:42345000 xref: SNOMEDCT_US:42658009 xref: UMLS:C0031117 xref: UMLS:C0152025 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0001272 name: Cerebellar atrophy alt_id: HP:0002364 alt_id: HP:0006839 alt_id: HP:0007072 alt_id: HP:0007203 def: "Atrophy (wasting) of the cerebellum." [HPO:probinson, pmid:12169461] comment: Cerebellar atrophy can be diagnosed if the cerebellum is small with shrunken folia and large cerebellar fissures or if it has been shown to undergo progressive volume loss. synonym: "Degeneration of cerebellum" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Infratentorial atrophy" RELATED [] xref: SNOMEDCT_US:95646004 xref: UMLS:C0262404 xref: UMLS:C0740279 xref: UMLS:C4020873 is_a: HP:0001317 ! Abnormal cerebellum morphology [Term] id: HP:0001273 name: Abnormal corpus callosum morphology alt_id: HP:0007323 def: "Abnormality of the corpus callosum." [HPO:probinson, pmid:21263138] comment: The corpus callosum, a broad thick band of nerve fibers that connects the right and left cerebral hemispheres, is the largest white matter structure in the brain. This finding can be demonstrated by cerebral magenetic resonance tomography. The corpus callosum structurally consists of 4 major anatomic features including the rostrum, genu, corpus, and splenium. synonym: "Abnormal corpus callosum" EXACT [] synonym: "Abnormality of the corpus callosum" EXACT [] synonym: "Corpus callosum abnormality" EXACT [] xref: UMLS:C1842581 is_a: HP:0002500 ! Abnormality of the cerebral white matter [Term] id: HP:0001274 name: Agenesis of corpus callosum alt_id: HP:0006800 def: "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators] synonym: "Absence of corpus callosum" EXACT [] synonym: "Absent corpus callosum" EXACT [] synonym: "Agenesis of the corpus callosum" EXACT [] synonym: "Callosal agenesis" EXACT [] synonym: "Corpus callosum agenesis" EXACT [] synonym: "Dysplastic or absent corpus callosum" EXACT [] xref: Fyler:4321 xref: MSH:D061085 xref: SNOMEDCT_US:5102002 xref: UMLS:C0175754 is_a: HP:0007370 ! Aplasia/Hypoplasia of the corpus callosum [Term] id: HP:0001276 name: Hypertonia alt_id: HP:0002388 def: "A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move." [HPO:probinson] comment: Spasticity is a term that is often used interchangeably with hypertonia. Spasticity, however, is a particular type of hypertonia in which the muscles' spasms are increased by movement. In this type, patients usually have exaggerated reflex responses. synonym: "Hypertonicity" EXACT [] synonym: "Increased muscle tone" EXACT [] synonym: "Muscle hypertonia" RELATED [] synonym: "Spasticity and rigidity of muscles" NARROW layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D009122 xref: SNOMEDCT_US:41581000 xref: SNOMEDCT_US:56731001 xref: UMLS:C0026826 is_a: HP:0002493 ! Upper motor neuron dysfunction is_a: HP:0003808 ! Abnormal muscle tone [Term] id: HP:0001278 name: Orthostatic hypotension alt_id: HP:0004932 alt_id: HP:0006700 def: "A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position." [HPO:probinson] synonym: "Decrease in blood pressure upon standing up" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Postural hypotension" EXACT [] xref: MSH:D007024 xref: SNOMEDCT_US:28651003 xref: UMLS:C0020651 is_a: HP:0002615 ! Hypotension is_a: HP:0012332 ! Abnormal autonomic nervous system physiology [Term] id: HP:0001279 name: Syncope def: "Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow." [HPO:probinson] synonym: "Fainting spell" EXACT layperson [] xref: MSH:D013575 xref: SNOMEDCT_US:271594007 xref: SNOMEDCT_US:272030005 xref: SNOMEDCT_US:309585006 xref: UMLS:C0039070 is_a: HP:0011025 ! Abnormal cardiovascular system physiology created_by: peter creation_date: 2008-02-25T10:37:00Z [Term] id: HP:0001281 name: Tetany def: "A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency." [] synonym: "Intermittent involuntary muscle spasm" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:D013746 xref: SNOMEDCT_US:10629009 xref: UMLS:C0039621 is_a: HP:0011804 ! Abnormal muscle physiology [Term] id: HP:0001283 name: Bulbar palsy alt_id: HP:0003441 alt_id: HP:0003709 def: "Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia." [HPO:curators] synonym: "Bulbar muscle weakness" EXACT [] synonym: "Bulbar palsies" EXACT [] synonym: "Bulbar weakness" EXACT [] xref: MSH:D010244 xref: SNOMEDCT_US:398432008 xref: UMLS:C1301959 xref: UMLS:C4082299 is_a: HP:0001324 ! Muscle weakness is_a: HP:0012638 ! Abnormality of nervous system physiology [Term] id: HP:0001284 name: Areflexia alt_id: HP:0001314 def: "Absence of neurologic reflexes such as the knee-jerk reaction." [HPO:probinson] comment: The strectch reflexes (also called deep tendon relfexes) include the knee-jerk reflex (patellar reflex, the biceps reflex, the triceps reflex, and the ankle jerk reflex or Achilles tendon reflex). synonym: "Absent deep tendon reflexes" EXACT [] synonym: "Absent reflexes" BROAD layperson [] synonym: "Absent tendon reflexes" EXACT layperson [] synonym: "Deep tendon reflexes absent" EXACT [] synonym: "Loss of deep tendon reflexes" EXACT [] xref: MSH:D012021 xref: SNOMEDCT_US:349006 xref: SNOMEDCT_US:37280007 xref: UMLS:C0234146 xref: UMLS:C0241772 xref: UMLS:C0278124 is_a: HP:0001315 ! Reduced tendon reflexes [Term] id: HP:0001285 name: Spastic tetraparesis alt_id: HP:0002393 def: "Spastic weakness affecting all four limbs." [HPO:curators] synonym: "Spastic quadriparesis" EXACT [] xref: SNOMEDCT_US:298282001 xref: UMLS:C0575059 is_a: HP:0001257 ! Spasticity [Term] id: HP:0001287 name: Meningitis def: "Inflammation of the meninges." [HPO:probinson] xref: MSH:D008581 xref: SNOMEDCT_US:7180009 xref: UMLS:C0025289 is_a: HP:0011450 ! Unusual CNS infection [Term] id: HP:0001288 name: Gait disturbance alt_id: HP:0006953 def: "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:probinson, PMID:27770207] comment: If possible, this term should not be used for new annotations. Rather, a more specific term should be sought. synonym: "Abnormal gait" EXACT layperson [] synonym: "Abnormal walk" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Gait abnormalities" EXACT [] synonym: "Gait difficulties" EXACT [] synonym: "Gait disturbances" EXACT [] synonym: "Impaired gait" EXACT layperson [] xref: SNOMEDCT_US:22325002 xref: UMLS:C0575081 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0001289 name: Confusion alt_id: HP:0000731 def: "Lack of clarity and coherence of thought, perception, understanding, or action." [HPO:curators] synonym: "Confusion" EXACT layperson [] synonym: "Disorientation" EXACT layperson [] synonym: "Easily confused" EXACT layperson [] synonym: "Mental disorientation" EXACT layperson [] xref: MSH:D003221 xref: SNOMEDCT_US:286933003 xref: UMLS:C0009676 is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0001290 name: Generalized hypotonia def: "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] synonym: "Decreased muscle tone" EXACT layperson [] synonym: "Generalized muscular hypotonia" EXACT [] synonym: "Hypotonia" BROAD [HPO:skoehler] synonym: "Hypotonia, generalized" EXACT [] synonym: "Low muscle tone" EXACT layperson [] xref: UMLS:C1858120 is_a: HP:0001252 ! Muscular hypotonia [Term] id: HP:0001291 name: Abnormal cranial nerve morphology alt_id: HP:0003480 def: "Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem." [HPO:probinson] synonym: "Abnormality of cranial nerve" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the cranial nerves" EXACT [] synonym: "Cranial nerve abnormality" RELATED [] synonym: "Cranial nerve disease" EXACT [] synonym: "Cranial nerve involvement" EXACT [] xref: UMLS:C1854510 xref: UMLS:C4020872 is_a: HP:0000759 ! Abnormal peripheral nervous system morphology [Term] id: HP:0001293 name: Cranial nerve compression xref: SNOMEDCT_US:95664006 xref: UMLS:C0521670 is_a: HP:0001291 ! Abnormal cranial nerve morphology [Term] id: HP:0001297 name: Stroke alt_id: HP:0002452 def: "Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain." [HPO:probinson] synonym: "Cerebral vascular events" EXACT [] synonym: "Cerebrovascular accident" EXACT [] synonym: "Cerebrovascular accidents" RELATED [HPO:skoehler] synonym: "Stroke" EXACT layperson [] xref: MSH:D020521 xref: SNOMEDCT_US:230690007 xref: UMLS:C0038454 is_a: HP:0100659 ! Abnormality of the cerebral vasculature [Term] id: HP:0001298 name: Encephalopathy def: "Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state." [HPO:probinson, KI:phemming] comment: This term and its children are general and bundled terms that are kept for convenience. For new annotations, it is recommended that the specific phenotypic abnormalities be noted. xref: MSH:D001927 xref: SNOMEDCT_US:81308009 xref: UMLS:C0085584 is_a: HP:0012638 ! Abnormality of nervous system physiology [Term] id: HP:0001300 name: Parkinsonism def: "Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait." [HPO:probinson] synonym: "Parkinsonian disease" RELATED [] xref: MSH:D020734 xref: SNOMEDCT_US:32798002 xref: UMLS:C0242422 is_a: HP:0002071 ! Abnormality of extrapyramidal motor function [Term] id: HP:0001301 name: Chronic sensorineural polyneuropathy xref: UMLS:C4025794 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0001302 name: Pachygyria def: "Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly." [COST:neuromig, HPO:probinson, PMID:22427329] synonym: "Cerebral pachygyria" EXACT [] synonym: "Fewer and broader ridges in brain" EXACT layperson [] xref: MSH:D054082 xref: SNOMEDCT_US:23024003 xref: UMLS:C0266483 is_a: HP:0001339 ! Lissencephaly [Term] id: HP:0001304 name: Torsion dystonia def: "Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body." [HPO:probinson] synonym: "Dystonia musculorum deformans" EXACT [] xref: MSH:D004422 xref: SNOMEDCT_US:22451001 xref: SNOMEDCT_US:431034009 xref: UMLS:C0013423 is_a: HP:0001332 ! Dystonia [Term] id: HP:0001305 name: Dandy-Walker malformation alt_id: HP:0001313 alt_id: HP:0006809 def: "A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal." [HPO:probinson] synonym: "Dandy-walker anomaly" EXACT [] synonym: "Dandy-Walker cyst" EXACT [] xref: MSH:D003616 xref: SNOMEDCT_US:14447001 xref: UMLS:C0010964 is_a: HP:0001320 ! Cerebellar vermis hypoplasia is_a: HP:0002198 ! Dilated fourth ventricle is_a: HP:0002350 ! Cerebellar cyst is_a: HP:0005445 ! Widened posterior fossa [Term] id: HP:0001308 name: Tongue fasciculations alt_id: HP:0003727 def: "Fasciculations or fibrillation affecting the tongue muscle." [HPO:probinson] synonym: "Lingual fasciculations" EXACT [ORCID:0000-0001-5889-4463] synonym: "Lingual fibrillations" EXACT [ORCID:0000-0001-5889-4463] synonym: "Lingual twitching" EXACT [ORCID:0000-0001-5889-4463] synonym: "Tongue fasciculation" EXACT [] synonym: "Tongue fasciculations/fibrillations" EXACT [] synonym: "Tongue twitching" EXACT layperson [] synonym: "Twitching of the tongue" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D005207 xref: SNOMEDCT_US:249878001 xref: UMLS:C0239548 is_a: HP:0002380 ! Fasciculations is_a: HP:0010546 ! Muscle fibrillation is_a: HP:0030810 ! Abnormal tongue physiology [Term] id: HP:0001310 name: Dysmetria def: "A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements." [HPO:probinson] comment: Dysmetria can result in moving beyond the target (hypermetria) or failing to reach the target (hypometria) during a voluntary movement. Dysmetria can be assessed clinically by the finger chase test, whereby the examiner and the proband are sitting, and the examiner suddenly moves his or her finger five times in an unpredictable direction in a frontal plane, with movements having an amplitude of about 30 cm and a frequency of once every two seconds. The proband is asked to follow the movements with his or her index finger. The test is abnormal if the proband substantially under- or overshoots or cannot perform pointing movements at all. The finger-nose-finger test is similar, and the proband is asked to alternately touch his or her own nose and then to point to the finger of the examiner. synonym: "Abnormal finger chase test" RELATED [] synonym: "Abnormal finger-nose-finger test" RELATED [] synonym: "Lack of coordination of movement" EXACT layperson [orcid.org/0000-0002-6548-5200] xref: MSH:D002524 xref: SNOMEDCT_US:32566006 xref: UMLS:C0234162 is_a: HP:0001251 ! Ataxia [Term] id: HP:0001311 name: Abnormal nervous system electrophysiology alt_id: HP:0002531 alt_id: HP:0003129 def: "An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations." [HPO:probinson] synonym: "Neurophysiologic abnormalities" EXACT [] synonym: "Neurophysiologic abnormality" EXACT [] xref: UMLS:C4021781 is_a: HP:0012638 ! Abnormality of nervous system physiology [Term] id: HP:0001312 name: Giant somatosensory evoked potentials def: "An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials." [HPO:curators] synonym: "Giant SEPS" EXACT [] xref: UMLS:C3806961 is_a: HP:0007377 ! Abnormality of somatosensory evoked potentials [Term] id: HP:0001315 name: Reduced tendon reflexes alt_id: HP:0001316 def: "Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease." [HPO:probinson, pmid:20941667] comment: The deep tendon reflex is a monosynaptic reflex arc with sensory and motor nerve components, but the arc is much more vulnerable to sensory nerve damage. Ankle plantar flexion is retained in all but the most severe peripheral neuropathies, and thus loss of the Achilles tendon reflex in an objective indication of a substantial sensory nerve defect. synonym: "Absent or decreased deep tendon reflexes" EXACT [] synonym: "Decreased deep tendon reflexes" EXACT [] synonym: "Decreased tendon reflexes" EXACT [] synonym: "Decreased to absent deep tendon reflexes" EXACT [] synonym: "Decreased/absent deep tendon reflexes" EXACT [] synonym: "Depressed tendon reflexes" EXACT [] synonym: "Diminished deep tendon reflexes" EXACT [] synonym: "Diminished or absent deep tendon reflexes" EXACT [] synonym: "Diminished or absent tendon reflexes" EXACT [] synonym: "Hypoactive to absent deep tendon reflexes" EXACT [] synonym: "Impaired tendon reflexes" EXACT [] synonym: "Reduced/absent deep tendon reflexes" EXACT [] synonym: "Weak or absent deep tendon reflexes" EXACT [] xref: UMLS:C1866934 is_a: HP:0031826 ! Abnormal reflex [Term] id: HP:0001317 name: Abnormal cerebellum morphology def: "Any structural abnormality of the cerebellum." [HPO:probinson] synonym: "Abnormality of the cerebellum" EXACT layperson [] synonym: "Cerebellar abnormalities" EXACT layperson [] synonym: "Cerebellar abnormality" EXACT layperson [] synonym: "Cerebellar anomaly" EXACT layperson [] synonym: "Cerebellar signs" EXACT [] xref: UMLS:C0742038 xref: UMLS:C1866129 is_a: HP:0011283 ! Abnormality of the metencephalon [Term] id: HP:0001319 name: Neonatal hypotonia alt_id: HP:0006830 alt_id: HP:0008976 def: "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators] synonym: "Congenital hypotonia" RELATED [] synonym: "Hypotonia, in neonatal onset" EXACT [] synonym: "Hypotonia, neonatal" EXACT [] synonym: "Low muscle tone, in neonatal onset" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D009123 xref: SNOMEDCT_US:205294008 xref: UMLS:C2267233 is_a: HP:0001252 ! Muscular hypotonia [Term] id: HP:0001320 name: Cerebellar vermis hypoplasia def: "Underdevelopment of the vermis of cerebellum." [HPO:probinson] synonym: "Cerebellar vermal hypoplasia" EXACT [] synonym: "Hypoplasia of the cerebellar vermis" EXACT [] synonym: "Hypoplastic cerebellar vermis" EXACT [] xref: UMLS:C1840379 is_a: HP:0006817 ! Aplasia/Hypoplasia of the cerebellar vermis [Term] id: HP:0001321 name: Cerebellar hypoplasia alt_id: HP:0006806 alt_id: HP:0006910 alt_id: HP:0007038 alt_id: HP:0007053 def: "Underdevelopment of the cerebellum." [HPO:probinson] comment: By prenatal ultrasound, cerebellar hypoplasia is diagnosed if the cerebellum measures more than two standard deviations below the mean. In adults, cerebellar hypoplasia is typically diagnosed by computer tomography or magnetic resonance imaging. Cerebellar hypoplasia can be diagnosed if there is a small cerebellum with fissures of normal size compared with the folia (this is a distinguishing characteristic compared with cerebellar atrophy). synonym: "Congenital cerebellar hypoplasia" EXACT [] synonym: "Hypoplasia of cerebellum" EXACT [] synonym: "Hypoplastic cerebellum" EXACT [] synonym: "Small cerebellum" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Underdeveloped cerebellum" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:C562568 xref: SNOMEDCT_US:16026008 xref: UMLS:C0266470 is_a: HP:0007360 ! Aplasia/Hypoplasia of the cerebellum [Term] id: HP:0001322 name: obsolete Brain very small is_obsolete: true replaced_by: HP:0006872 [Term] id: HP:0001324 name: Muscle weakness alt_id: HP:0002309 alt_id: HP:0008979 alt_id: HP:0009012 alt_id: HP:0009061 def: "Reduced strength of muscles." [HPO:probinson, pmid:15832536] comment: It is important clinical to distinguish between muscle weakness, fatigue, and asthenia. Fatigue describes the inability to continue performing a task after multiple repetitions; in contrast, a patient with primary weakness is unable to perform the first repetition of the task. Asthenia is a sense of weariness or exhaustion in the absence of muscle weakness. Conditions that result in intrinsic muscle weakness can be divided into several main categories: infectious, neurologic, endocrine, inflammatory, rheumatologic, genetic, metabolic, electrolyte-induced, or drug-induced. synonym: "Muscle weakness" EXACT layperson [] synonym: "Muscular weakness" EXACT layperson [] xref: MSH:D018908 xref: SNOMEDCT_US:26544005 xref: UMLS:C0151786 is_a: HP:0011804 ! Abnormal muscle physiology [Term] id: HP:0001325 name: Hypoglycemic coma synonym: "Coma caused by low blood sugar" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Coma, hypoglycemic" EXACT [] synonym: "Hypoglycaemic coma" EXACT [] synonym: "Loss of consciousness due to hypoglycemia" EXACT [] xref: SNOMEDCT_US:267384006 xref: UMLS:C0020617 is_a: HP:0001259 ! Coma [Term] id: HP:0001326 name: EEG with irregular generalized spike and wave complexes def: "EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency." [HPO:jalbers] xref: UMLS:C4025792 is_a: HP:0010850 ! EEG with spike-wave complexes [Term] id: HP:0001327 name: Photomyoclonic seizures xref: UMLS:C4025791 is_a: HP:0002123 ! Generalized myoclonic seizures [Term] id: HP:0001328 name: Specific learning disability alt_id: HP:0007234 def: "Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence." [HPO:probinson] comment: The term learning disability is used with different meanings in different contexts. Significant impairments of mental functioning with a reduction in IQ below 70 should be coded as mental retardation. xref: UMLS:C4025790 is_a: HP:0012759 ! Neurodevelopmental abnormality [Term] id: HP:0001331 name: Absent septum pellucidum alt_id: HP:0006969 def: "Absence of the septum pellucidum." [HPO:probinson] comment: TODO: Bundled term. Revise annotations and split this term. synonym: "Absence of septum pellucidum" EXACT [] synonym: "Absence of the septum pellucidum" EXACT [] synonym: "Agenesis of the septum pellucidum" EXACT [] synonym: "Missing septum pellucidum" EXACT [https://orcid.org/0000-0002-6548-5200] xref: MSH:C535562 xref: SNOMEDCT_US:253143001 xref: UMLS:C0431371 is_a: HP:0007375 ! Abnormality of the septum pellucidum [Term] id: HP:0001332 name: Dystonia alt_id: HP:0002328 def: "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:probinson] synonym: "Dystonic disease" RELATED [] synonym: "Dystonic movements" EXACT [] xref: MSH:D004421 xref: UMLS:C0013421 xref: UMLS:C4020871 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0001334 name: Communicating hydrocephalus def: "A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space." [eMedicine:1135286, HPO:probinson] comment: Communicating hydrocephalus may be caused by overproduction of CSF, defective absorption of CSF (the most common cause) or venous drainage insufficiency. xref: MSH:D006849 xref: SNOMEDCT_US:271569006 xref: UMLS:C0009451 is_a: HP:0000238 ! Hydrocephalus [Term] id: HP:0001335 name: Bimanual synkinesia def: "Mirror hand movements." [HPO:probinson] synonym: "Hand mirror movements" EXACT layperson [] synonym: "Mirror hand movements" EXACT layperson [] synonym: "Mirror movements" EXACT layperson [] xref: SNOMEDCT_US:229247004 xref: UMLS:C0454455 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0001336 name: Myoclonus alt_id: HP:0002535 alt_id: HP:0007087 def: "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:probinson, PMID:20589866] comment: Myoclonus may be synchronous (several muscle contracting simultaneously), spreading (several muscles contracting in sequence), or asynchronous (several muscles contracting with varying and unpredictable relative timing). Myoclonus is characterized by sudden unidirectional movement due to muscle contraction (positive myoclonus) or due to sudden brief muscle relaxtion (negative myoclonus). synonym: "Involuntary jerking movements" RELATED [] synonym: "Jerking" BROAD layperson [] synonym: "Myoclonic jerks" EXACT [] xref: MSH:D009207 xref: SNOMEDCT_US:127324008 xref: SNOMEDCT_US:17450006 xref: UMLS:C0027066 xref: UMLS:C1854302 is_a: HP:0004305 ! Involuntary movements [Term] id: HP:0001337 name: Tremor alt_id: HP:0001295 alt_id: HP:0001309 def: "An unintentional, oscillating to-and-fro muscle movement about a joint axis." [HPO:probinson, pmid:16344298, PMID:20589866] comment: Tremor is differentiated from other involuntary movement disorders, such as chorea, athetosis, ballism, tics, and myoclonus, by its repetitive, stereotyped movements of a regular amplitude and frequency. Clonus, unlike tremor, represents a rhythmic movement, which is increased by muscle stretching. synonym: "Tremor" EXACT layperson [] synonym: "Tremors" EXACT layperson [] xref: MSH:D014202 xref: SNOMEDCT_US:26079004 xref: UMLS:C0040822 is_a: HP:0004305 ! Involuntary movements [Term] id: HP:0001338 name: Partial agenesis of the corpus callosum alt_id: HP:0006982 alt_id: HP:0007090 alt_id: HP:0007128 def: "A partial failure of the development of the corpus callosum." [HPO:curators] synonym: "Corpus callosum agenesis, partial" EXACT [] synonym: "Partial agenesis of corpus callosum" EXACT [] synonym: "Partial corpus callosum agenesis" EXACT [] synonym: "Partial or complete agenesis of corpus callosum" EXACT [] synonym: "Partial or complete agenesis of the corpus callosum" RELATED [HPO:skoehler] synonym: "Partial to complete agenesis of corpus callosum" EXACT [] synonym: "Partial-total agenesis of corpus callosum" EXACT [] xref: MSH:C536111 xref: SNOMEDCT_US:253140003 xref: UMLS:C0431368 xref: UMLS:C1857278 is_a: HP:0001274 ! Agenesis of corpus callosum [Term] id: HP:0001339 name: Lissencephaly alt_id: HP:0002537 def: "A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly." [COST:neuromig, HPO:probinson, PMID:28440899] comment: Lissencephaly (LIS, which subsumes the terms agyria and pachygyria), together with subcortical-band heterotopia (SBH) comprises a spectrum of malformations of cortical development caused by insufficient neuronal migration. The key features of LIS are an abnormally thick cortex with reduced or absent formation of the cerebral convolutions, while SBH consists of abnormal bands of neurons beneath a normal cortex, although the cerebral gyri may be separated by unusually shallow sulci. synonym: "Fewer or absent grooves in brain" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D054082 xref: SNOMEDCT_US:204036008 xref: UMLS:C0266463 xref: UMLS:C1879312 is_a: HP:0002536 ! Abnormal cortical gyration [Term] id: HP:0001340 name: Enhancement of the C-reflex def: "Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response." [HPO:probinson, pmid:4819909] xref: UMLS:C3552824 is_a: HP:0007377 ! Abnormality of somatosensory evoked potentials [Term] id: HP:0001341 name: Olfactory lobe agenesis synonym: "Olfactory lobe absence" EXACT layperson [] xref: UMLS:C1855331 is_a: HP:0025057 ! Abnormality of olfactory lobe morphology [Term] id: HP:0001342 name: Cerebral hemorrhage alt_id: HP:0002137 def: "Hemorrhage into the parenchyma of the brain." [HPO:gcarletti] comment: A cerebral hemorrhage (or intracerebral hemorrhage, ICH), is a type of intracranial hemorrhage that occurs within the brain tissue itself. synonym: "Bleeding in brain" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Hemorrhagic stroke" RELATED [ORCID:0000-0001-6908-9849] synonym: "Intracerebral hemorrhage" EXACT [] xref: MSH:D002543 xref: MSH:D020300 xref: SNOMEDCT_US:230706003 xref: SNOMEDCT_US:274100004 xref: UMLS:C0553692 xref: UMLS:C2937358 is_a: HP:0002170 ! Intracranial hemorrhage [Term] id: HP:0001343 name: Kernicterus def: "Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction." [HPO:probinson] xref: MSH:D007647 xref: SNOMEDCT_US:50143004 xref: SNOMEDCT_US:74925009 xref: UMLS:C0022610 is_a: HP:0012443 ! Abnormality of brain morphology [Term] id: HP:0001344 name: Absent speech alt_id: HP:0001617 alt_id: HP:0006798 def: "Complete lack of development of speech and language abilities." [HPO:probinson] comment: This term should not be used in very young children. synonym: "Absent speech development" EXACT layperson [] synonym: "Lack of language development" EXACT layperson [] synonym: "Lack of speech" EXACT layperson [] synonym: "No speech development" EXACT layperson [] synonym: "No speech or language development" EXACT layperson [] synonym: "Nonverbal" EXACT layperson [ORCID:0000-0001-9114-8737] xref: UMLS:C0746940 xref: UMLS:C1854882 is_a: HP:0000750 ! Delayed speech and language development is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0001345 name: Psychotic mentation xref: UMLS:C4025789 is_a: HP:0000709 ! Psychosis [Term] id: HP:0001347 name: Hyperreflexia alt_id: HP:0001282 alt_id: HP:0006820 alt_id: HP:0007184 alt_id: HP:0007318 def: "Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles." [HPO:probinson] comment: Reflexes are graded according to the following scale: 0=absent; 1=present but diminished; 2=normoactive; 3=exaggerated; and 4=clonus. Clonus is always abnormal, and a grade 3 reflex may be abnormal if it is asymmetric or if it was previously grade 2 or less. synonym: "Increased deep tendon reflexes" EXACT [] synonym: "Increased reflexes" EXACT layperson [] xref: MSH:D012021 xref: SNOMEDCT_US:86854008 xref: UMLS:C0151889 is_a: HP:0031826 ! Abnormal reflex [Term] id: HP:0001348 name: Brisk reflexes def: "Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal." [] xref: UMLS:C2673700 is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0001349 name: Facial diplegia alt_id: HP:0005334 alt_id: HP:0007085 def: "Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy)." [HPO:probinson] subset: hposlim_core synonym: "Bilateral facial weakness" EXACT [] synonym: "Facial paresis, bilateral" EXACT [] xref: UMLS:C1836003 is_a: HP:0010628 ! Facial palsy [Term] id: HP:0001350 name: Slurred speech def: "Abnormal coordination of muscles involved in speech." [DDD:fmunitoni] synonym: "Slurred speech" EXACT layperson [] xref: SNOMEDCT_US:289195008 xref: UMLS:C0234518 is_a: HP:0011443 ! Abnormality of coordination [Term] id: HP:0001351 name: Jerk-locked premyoclonus spikes def: "Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG." [HPO:probinson, pmid:1464676] xref: UMLS:C3552825 is_a: HP:0030178 ! Abnormality of central nervous system electrophysiology [Term] id: HP:0001355 name: Megalencephaly def: "Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia)." [COST:neuromig, HPO:probinson, PMID:28658095] synonym: "Enlarged brain" BROAD layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Macrencephaly" EXACT [] xref: MSH:D058627 xref: SNOMEDCT_US:19410003 xref: UMLS:C0221355 is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0001357 name: Plagiocephaly alt_id: HP:0001121 def: "Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape." [pmid:19125436] comment: Plagiocephaly may affect the posterior skull alone. With plagiocephaly, one can see a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape or asymmetry of the posterior skull alone. subset: hposlim_core synonym: "Asymmetry of the posterior cranium" BROAD [ORCID:0000-0001-5889-4463] synonym: "Asymmetry of the posterior head" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Asymmetry of the posterior skull" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Deformational plagiocephaly" NARROW [ORCID:0000-0001-5889-4463] synonym: "Flat head" BROAD [HPO:skoehler] synonym: "Flat head syndrome" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Flattening of cranial vault" EXACT [ORCID:0000-0001-5889-4463] synonym: "Flattening of cranium" EXACT [ORCID:0000-0001-5889-4463] synonym: "Flattening of head" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Flattening of skull" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Positional plagiocephaly" NARROW [ORCID:0000-0001-5889-4463] synonym: "Rhomboid shaped cranium" EXACT [ORCID:0000-0001-5889-4463] synonym: "Rhomboid shaped head" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Rhomboid shaped skull" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D049068 xref: MSH:D059041 xref: SNOMEDCT_US:21850008 xref: SNOMEDCT_US:254024005 xref: UMLS:C0265529 xref: UMLS:C1450010 xref: UMLS:C4072830 xref: UMLS:C4280597 xref: UMLS:C4280598 xref: UMLS:C4280807 is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0001360 name: Holoprosencephaly alt_id: HP:0009807 def: "Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles." [HPO:probinson] comment: The presence of a single cerebral ventricle (instead of the usual four) may be seen as part of holoprosencephaly. synonym: "Single brain ventricle" EXACT [] xref: Fyler:4338 xref: MSH:D016142 xref: SNOMEDCT_US:30915001 xref: UMLS:C0079541 is_a: HP:0012443 ! Abnormality of brain morphology [Term] id: HP:0001361 name: Nystagmus-induced head nodding def: "Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision." [HPO:probinson] xref: UMLS:C4025788 is_a: HP:0000639 ! Nystagmus [Term] id: HP:0001362 name: Calvarial skull defect def: "A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year." [HPO:probinson] synonym: "Calvarial defect" NARROW [ORCID:0000-0001-5889-4463] synonym: "Cranial defect" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Skull defect" EXACT layperson [] xref: UMLS:C4025787 xref: UMLS:C4280595 xref: UMLS:C4280596 is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0001363 name: Craniosynostosis alt_id: HP:0001365 alt_id: HP:0004494 alt_id: HP:0005448 alt_id: HP:0005457 alt_id: HP:0005467 alt_id: HP:0008492 def: "Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth." [HPO:probinson] comment: Skull deformity caused by the premature closure of the cranial sutures. Craniostenosis is a deformity of the skull caused by craniosynostosis, with consequent cessation of skull growth. subset: hposlim_core synonym: "Cranial suture synostosis" EXACT [ORCID:0000-0001-5889-4463] synonym: "Craniostenosis" RELATED [] synonym: "Craniosyostosis" EXACT [] synonym: "Deformity of the skull" BROAD layperson [https://en.wikipedia.org/wiki/Craniosynostosis, ORCID:0000-0002-9353-5498] synonym: "Early fusion of cranial sutures" EXACT [] synonym: "Premature closure of cranial sutures" EXACT [] synonym: "Premature fontanel closure" EXACT [] synonym: "Premature suture closure" EXACT [ORCID:0000-0001-5208-3432] xref: Fyler:4336 xref: MSH:D003398 xref: SNOMEDCT_US:57219006 xref: UMLS:C0010278 xref: UMLS:C0235942 is_a: HP:0002648 ! Abnormality of calvarial morphology is_a: HP:0011329 ! Abnormality of cranial sutures [Term] id: HP:0001367 name: Abnormal joint morphology def: "An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join." [HPO:probinson] synonym: "Abnormal shape of joints" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the joints" EXACT layperson [] synonym: "Anomaly of the joints" EXACT layperson [] synonym: "Joint disease" RELATED layperson [] xref: MSH:D007592 xref: SNOMEDCT_US:399269003 xref: UMLS:C0022408 xref: UMLS:C0240083 is_a: HP:0011842 ! Abnormality of skeletal morphology [Term] id: HP:0001369 name: Arthritis def: "Inflammation of a joint." [HPO:probinson] synonym: "Arthritis" EXACT layperson [] synonym: "Joint inflammation" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:D001168 xref: SNOMEDCT_US:3723001 xref: UMLS:C0003864 is_a: HP:0001367 ! Abnormal joint morphology [Term] id: HP:0001370 name: Rheumatoid arthritis def: "Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures." [HPO:probinson] synonym: "RA" EXACT HP:0045077 [] synonym: "Rheumatoid arthritis" EXACT layperson [] xref: MSH:D001172 xref: SNOMEDCT_US:69896004 xref: UMLS:C0003873 is_a: HP:0001369 ! Arthritis [Term] id: HP:0001371 name: Flexion contracture alt_id: HP:0001372 alt_id: HP:0001381 alt_id: HP:0005053 alt_id: HP:0005189 alt_id: HP:0005660 def: "A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints." [HPO:probinson] synonym: "Contracture" EXACT [] synonym: "Contractures" RELATED [HPO:skoehler] synonym: "Flexed joint that cannot be straightened" EXACT layperson [] synonym: "Flexion contractures" EXACT [] synonym: "Flexion contractures of joints" EXACT [] synonym: "Joint contracture" EXACT [] synonym: "Joint contractures" EXACT [] xref: MSH:D003286 xref: SNOMEDCT_US:203598005 xref: SNOMEDCT_US:385522000 xref: SNOMEDCT_US:55033002 xref: SNOMEDCT_US:57048009 xref: SNOMEDCT_US:7890003 xref: SNOMEDCT_US:88565003 xref: UMLS:C0009917 xref: UMLS:C0009918 xref: UMLS:C0333068 xref: UMLS:C1850530 is_a: HP:0003549 ! Abnormality of connective tissue is_a: HP:0011729 ! Abnormality of joint mobility is_a: HP:0011805 ! Abnormal muscle morphology is_a: HP:0100261 ! Abnormal tendon morphology [Term] id: HP:0001373 name: Joint dislocation alt_id: HP:0002772 alt_id: HP:0005837 def: "Displacement or malalignment of joints." [HPO:curators] comment: Dislocation is defined as a complete disruption of the joint and subluxation is defined as a partial dislocation followed by relocation. synonym: "Joint dislocation" EXACT layperson [] synonym: "Joint dislocations" EXACT layperson [HPO:skoehler] synonym: "Recurrent joint dislocations" EXACT layperson [] xref: MSH:D004204 xref: SNOMEDCT_US:108367008 xref: SNOMEDCT_US:87642003 xref: UMLS:C0012691 is_a: HP:0001367 ! Abnormal joint morphology [Term] id: HP:0001374 name: Congenital hip dislocation synonym: "Congenital dislocation of the hip" EXACT [] synonym: "Congenital dislocation of the hips" EXACT [] synonym: "Congenital hip anomaly" EXACT [] synonym: "Congenital hip dislocations" EXACT [] synonym: "Dislocated hip since birth" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D006618 xref: SNOMEDCT_US:48334007 xref: SNOMEDCT_US:52781008 xref: UMLS:C0019555 is_a: HP:0002827 ! Hip dislocation [Term] id: HP:0001376 name: Limitation of joint mobility alt_id: HP:0003101 def: "A reduction in the freedom of movement of one or more joints." [HPO:probinson] synonym: "Decreased joint mobility" EXACT layperson [] synonym: "Decreased mobility of joints" EXACT layperson [] synonym: "Limitation of joint mobility" EXACT layperson [] synonym: "Limited joint mobility" EXACT layperson [] synonym: "Limited joint motion" EXACT layperson [] xref: UMLS:C1857108 is_a: HP:0011729 ! Abnormality of joint mobility [Term] id: HP:0001377 name: Limited elbow extension alt_id: HP:0005073 def: "Limited ability to straighten the arm at the elbow joint." [HPO:probinson] subset: hposlim_core synonym: "Decreased elbow extension" EXACT layperson [] synonym: "Elbow limited extension" EXACT layperson [] synonym: "Limitation of elbow extension" EXACT layperson [] synonym: "Limited elbow extension" EXACT layperson [] synonym: "Limited extension at elbows" EXACT layperson [] synonym: "Limited forearm extension" EXACT layperson [] synonym: "Restricted elbow extension" EXACT layperson [] xref: UMLS:C1867103 is_a: HP:0002996 ! Limited elbow movement [Term] id: HP:0001379 name: obsolete Degenerative joint disease is_obsolete: true replaced_by: HP:0002758 [Term] id: HP:0001380 name: obsolete Ligamentous laxity is_obsolete: true replaced_by: HP:0001388 [Term] id: HP:0001382 name: Joint hypermobility alt_id: HP:0001378 alt_id: HP:0005034 def: "The ability of a joint to move beyond its normal range of motion." [HPO:probinson] synonym: "Double-Jointed" EXACT layperson [] synonym: "Extensible joints" EXACT [] synonym: "Flexible joints" EXACT layperson [] synonym: "Hyperextensible joints" EXACT [] synonym: "Increased mobility of joints" EXACT layperson [] synonym: "Joint hyperextensibility" EXACT [] xref: SNOMEDCT_US:298181000 xref: UMLS:C1844820 is_a: HP:0011729 ! Abnormality of joint mobility [Term] id: HP:0001384 name: Abnormality of the hip joint def: "An abnormality of the hip joint." [HPO:probinson] synonym: "Abnormality of the hip joint" EXACT layperson [] synonym: "Abnormality of the hip joints" RELATED layperson [] xref: UMLS:C4020870 is_a: HP:0003272 ! Abnormality of the hip bone is_a: HP:0005262 ! Abnormality of the synovia is_a: HP:0100491 ! Abnormality of lower limb joint [Term] id: HP:0001385 name: Hip dysplasia alt_id: HP:0008787 def: "The presence of developmental dysplasia of the hip." [HPO:probinson] synonym: "Abnormal formation of the hip" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Congenital hip dysplasia" EXACT [] xref: MSH:D006618 xref: SNOMEDCT_US:48334007 xref: SNOMEDCT_US:52781008 xref: UMLS:C0019555 is_a: HP:0003272 ! Abnormality of the hip bone [Term] id: HP:0001386 name: Joint swelling synonym: "Joint swelling" EXACT layperson [] xref: SNOMEDCT_US:271771009 xref: UMLS:C0152031 is_a: HP:0000969 ! Edema is_a: HP:0001367 ! Abnormal joint morphology [Term] id: HP:0001387 name: Joint stiffness alt_id: HP:0002775 alt_id: HP:0003033 def: "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [HPO:probinson] synonym: "Joint stiffness" EXACT layperson [] synonym: "Stiff joint" EXACT layperson [] synonym: "Stiff joints" EXACT layperson [] xref: SNOMEDCT_US:84445001 xref: UMLS:C0162298 is_a: HP:0001376 ! Limitation of joint mobility [Term] id: HP:0001388 name: Joint laxity alt_id: HP:0001380 alt_id: HP:0001383 alt_id: HP:0002771 def: "Lack of stability of a joint." [HPO:probinson] comment: Joint laxity may be caused by a number of factors including intraarticular disease and injury or slacking of extraarticular structures such as joint capsules, ligaments, and muscles. synonym: "Hyperlaxity" EXACT [] synonym: "Joint instability" EXACT layperson [Sanford:krageth] synonym: "Joint ligamentous laxity" EXACT [] synonym: "Lax joints" EXACT layperson [] synonym: "Ligamentous laxity" EXACT [] synonym: "Loose-jointedness" EXACT layperson [] synonym: "Loosejointedness" EXACT layperson [] xref: MSH:D007593 xref: SNOMEDCT_US:27911000 xref: SNOMEDCT_US:298203008 xref: UMLS:C0086437 xref: UMLS:C0158359 is_a: HP:0011729 ! Abnormality of joint mobility [Term] id: HP:0001392 name: Abnormality of the liver def: "An abnormality of the liver." [HPO:probinson] synonym: "Abnormal liver" EXACT layperson [] synonym: "Abnormality of the liver" EXACT layperson [] synonym: "Liver abnormality" EXACT layperson [] synonym: "Liver disease" RELATED layperson [] xref: MSH:D008107 xref: SNOMEDCT_US:235856003 xref: UMLS:C0023895 xref: UMLS:C4021780 is_a: HP:0002012 ! Abnormality of the abdominal organs [Term] id: HP:0001394 name: Cirrhosis def: "A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function." [HPO:probinson] comment: Cirrhosis is caused by chronic liver disease as a result of viral infections (hepatitis), alcohol abuse, certain medications, certain metabolic disorders of iron and copper, and many others. Cirrhosis may lead to a number of abnormalities including hepatomegaly, jaundice, abnormal liver function tests, ascites, dilatation of veins in the abdominal wall, anemia, and clotting deficiencies. synonym: "Hepatic cirrhosis" EXACT [] synonym: "Liver cirrhosis" RELATED [HPO:skoehler] synonym: "Scar tissue replaces healthy tissue in the liver" EXACT layperson [orcid.org/0000-0002-6548-5200] xref: MSH:D008103 xref: SNOMEDCT_US:19943007 xref: UMLS:C0023890 is_a: HP:0410042 ! Abnormal liver morphology [Term] id: HP:0001395 name: Hepatic fibrosis def: "The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process." [HPO:probinson] xref: MSH:D008103 xref: SNOMEDCT_US:62484002 xref: UMLS:C0239946 is_a: HP:0410042 ! Abnormal liver morphology [Term] id: HP:0001396 name: Cholestasis def: "Impairment of bile flow due to obstruction in bile ducts." [HPO:probinson] synonym: "Slowed or blocked flow of bile from liver" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D002779 xref: SNOMEDCT_US:197446008 xref: SNOMEDCT_US:30144000 xref: SNOMEDCT_US:33688009 xref: UMLS:C0008370 is_a: HP:0004297 ! Abnormality of the biliary system [Term] id: HP:0001397 name: Hepatic steatosis alt_id: HP:0002252 alt_id: HP:0200121 def: "The presence of steatosis in the liver." [eMedicine:175472, HPO:probinson] comment: Steatosis refers to an abnormal accumulation of lipids within a cell or tissue. synonym: "Fatty infiltration of liver" EXACT layperson [] synonym: "Fatty liver" EXACT layperson [] synonym: "Liver steatosis" EXACT [] synonym: "Steatosis" EXACT [] xref: MSH:D005234 xref: SNOMEDCT_US:197321007 xref: SNOMEDCT_US:442191002 xref: UMLS:C2711227 is_a: HP:0006561 ! Lipid accumulation in hepatocytes [Term] id: HP:0001399 name: Hepatic failure synonym: "Liver failure" EXACT layperson [] xref: MSH:D017093 xref: SNOMEDCT_US:59927004 xref: UMLS:C0085605 is_a: HP:0001410 ! Decreased liver function [Term] id: HP:0001400 name: obsolete Hepatic abscesses due to immunodeficiency is_obsolete: true replaced_by: HP:0100523 [Term] id: HP:0001401 name: Intrahepatic biliary dysgenesis xref: UMLS:C1859235 is_a: HP:0011040 ! Abnormality of the intrahepatic bile duct [Term] id: HP:0001402 name: Hepatocellular carcinoma alt_id: HP:0002899 alt_id: HP:0003007 alt_id: HP:0006750 def: "A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver." [HPO:probinson] comment: Hepatocellular carcinoma may be associated with hepatitis B virus infection and cirrhosis or alcoholic cirrhosis. synonym: "Increased hepatocellular carcinoma risk" RELATED [] synonym: "Increased incidence of hepatocellular carcinoma" RELATED [] xref: MSH:D006528 xref: NCIT:C3099 xref: SNOMEDCT_US:109841003 xref: SNOMEDCT_US:187769009 xref: SNOMEDCT_US:25370001 xref: UMLS:C1862761 xref: UMLS:C1867955 xref: UMLS:C2239176 is_a: HP:0002896 ! Neoplasm of the liver [Term] id: HP:0001403 name: Macrovesicular hepatic steatosis def: "A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes." [HPO:probinson] synonym: "Macrovesicular steatosis" EXACT [] xref: UMLS:C1837256 is_a: HP:0001397 ! Hepatic steatosis [Term] id: HP:0001404 name: Hepatocellular necrosis synonym: "Death of liver cells" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hepatocellular loss" EXACT [] xref: UMLS:C1855038 is_a: HP:0002605 ! Hepatic necrosis [Term] id: HP:0001405 name: Periportal fibrosis def: "The presence of fibrosis affecting the interlobular stroma of liver." [HPO:probinson] comment: Liver fibrosis is not only the result of necrosis, collapse and scar formation but also the result of derangements in the synthesis and degradation of matrix by injured mesenchymal cells. xref: UMLS:C1849766 is_a: HP:0001395 ! Hepatic fibrosis [Term] id: HP:0001406 name: Intrahepatic cholestasis def: "Impairment of bile flow due to obstruction in the small bile ducts within the liver." [HPO:probinson] synonym: "Impaired release of bile from liver" BROAD layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D002780 xref: SNOMEDCT_US:4637005 xref: UMLS:C0008372 is_a: HP:0001396 ! Cholestasis is_a: HP:0031865 ! Abnormal liver physiology [Term] id: HP:0001407 name: Hepatic cysts synonym: "Liver cysts" EXACT layperson [] xref: SNOMEDCT_US:85057007 xref: UMLS:C0267834 is_a: HP:0006706 ! Cystic liver disease [Term] id: HP:0001408 name: Bile duct proliferation def: "Proliferative changes of the bile ducts." [HPO:probinson] synonym: "Proliferation of bile canaliculi" EXACT [] xref: SNOMEDCT_US:20239009 xref: UMLS:C0267818 is_a: HP:0012440 ! Abnormal biliary tract morphology [Term] id: HP:0001409 name: Portal hypertension def: "Increased pressure in the portal vein." [HPO:probinson] comment: Portal hypertension is defined as portal vein pressures exceeding 5 mm Hg or portal vein to hepatic vein gradient of greater than 10 mm Hg. xref: MSH:D006975 xref: SNOMEDCT_US:34742003 xref: UMLS:C0020541 is_a: HP:0006707 ! Abnormality of the hepatic vasculature is_a: HP:0032263 ! Increased blood pressure [Term] id: HP:0001410 name: Decreased liver function alt_id: HP:0004393 alt_id: HP:0005228 alt_id: HP:0006570 def: "Reduced ability of the liver to perform its functions." [HPO:probinson] synonym: "Decreased liver function" EXACT layperson [] synonym: "Liver dysfunction" EXACT layperson [] synonym: "Liver dysfunction, mild" RELATED layperson [HPO:skoehler] xref: MSH:D008107 xref: SNOMEDCT_US:75183008 xref: SNOMEDCT_US:77981007 xref: UMLS:C0086565 xref: UMLS:C0232744 xref: UMLS:C3279149 is_a: HP:0025155 ! Abnormality of hepatobiliary system physiology [Term] id: HP:0001412 name: Enteroviral hepatitis def: "Inflammation of the liver due to infection with enterovirus." [PMID:15056237] xref: UMLS:C1843995 is_a: HP:0006562 ! Viral hepatitis [Term] id: HP:0001413 name: Micronodular cirrhosis def: "A type of cirrhosis characterized by the presence of small regenerative nodules." [HPO:probinson] comment: In micronodular cirrhosis (Laennec's cirrhosis or portal cirrhosis) regenerating nodules are under 3 mm. This finding can be demonstrated by liver biopsy. xref: SNOMEDCT_US:21861000 xref: UMLS:C0267812 is_a: HP:0001394 ! Cirrhosis [Term] id: HP:0001414 name: Microvesicular hepatic steatosis def: "A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes." [HPO:probinson] comment: This finding can be demonstrated by liver biopsy. synonym: "Microvesicular steatosis" EXACT [] xref: UMLS:C1850415 is_a: HP:0001397 ! Hepatic steatosis [Term] id: HP:0001417 name: X-linked inheritance alt_id: HP:0001418 def: "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [HPO:curators] synonym: "X-linked" EXACT [] synonym: "X-linked form" RELATED [HPO:skoehler] xref: MSH:D050172 xref: SNOMEDCT_US:263934009 xref: UMLS:C0241764 is_a: HP:0010985 ! Gonosomal inheritance [Term] id: HP:0001419 name: X-linked recessive inheritance def: "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators] synonym: "X-linked recessive" EXACT [HPO:skoehler] xref: UMLS:C1845977 is_a: HP:0001417 ! X-linked inheritance [Term] id: HP:0001421 name: Abnormality of the musculature of the hand synonym: "Abnormal hand muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025786 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs created_by: peter creation_date: 2008-04-07T10:59:00Z [Term] id: HP:0001423 name: X-linked dominant inheritance def: "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators] synonym: "X-linked dominant" EXACT [HPO:skoehler] xref: UMLS:C1847879 is_a: HP:0001417 ! X-linked inheritance [Term] id: HP:0001425 name: Heterogeneous synonym: "Genetic heterogeneity" EXACT [] synonym: "Heterogeneity" EXACT [] xref: MSH:D018740 xref: UMLS:C0242960 is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0001426 name: Multifactorial inheritance alt_id: HP:0001429 alt_id: HP:0001472 def: "A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases." [HPO:probinson] comment: The observed inheritance for a multifactorial genetic trait or disorder may have a higher frequency within the same family, whether the etiology is genetic or environmental, or a combination of the two. synonym: "Familial predisposition" RELATED [] xref: MSH:D020412 xref: UMLS:C0600599 is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0001427 name: Mitochondrial inheritance alt_id: HP:0001431 alt_id: HP:0001458 alt_id: HP:0001506 def: "A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy)." [HPO:probinson] synonym: "Mitochondrial" EXACT [] xref: MSH:D050259 xref: UMLS:C0887941 is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0001428 name: Somatic mutation def: "A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation." [] comment: This term applies to a disease whose etiology is related to an alteration in DNA that occurs after conception. Somatic mutations occur in all body tissues throughout life and are not present in the germline from which the individual developed (The Greek word soma means body.) The majority of somatic mutations have no phenotypic effect. However, occasionally they may have functional consequences that confer a selective advantage on the cell owing to preferential growth or survival. These so-called driver mutations may ultimately lead to cancer or other diseases. xref: SNOMEDCT_US:124975008 xref: UMLS:C0544886 is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0001430 name: Abnormality of the calf musculature alt_id: HP:0004300 synonym: "Abnormal calf muscles" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of calf musculature" EXACT [] xref: UMLS:C4021779 is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs created_by: peter creation_date: 2008-04-07T10:18:00Z [Term] id: HP:0001433 name: Hepatosplenomegaly def: "Simultaneous enlargement of the liver and spleen." [HPO:probinson] synonym: "Enlarged liver and spleen" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:36760000 xref: UMLS:C0019214 is_a: HP:0003271 ! Visceromegaly is_a: HP:0025408 ! Abnormal spleen morphology is_a: HP:0410042 ! Abnormal liver morphology created_by: peter creation_date: 2008-02-20T10:51:00Z [Term] id: HP:0001435 name: Abnormality of the shoulder girdle musculature alt_id: HP:0004301 synonym: "Abnormality of shoulder musculature" EXACT layperson [] xref: UMLS:C4021778 is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs created_by: peter creation_date: 2008-04-07T10:19:00Z [Term] id: HP:0001436 name: Abnormality of the foot musculature def: "An anomaly of the musculature of foot." [HPO:probinson] synonym: "Abnormal foot muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025785 is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs created_by: peter creation_date: 2008-04-07T10:21:00Z [Term] id: HP:0001437 name: Abnormality of the musculature of the lower limbs xref: UMLS:C4025784 is_a: HP:0002814 ! Abnormality of the lower limb is_a: HP:0009127 ! Abnormality of the musculature of the limbs created_by: peter creation_date: 2008-04-07T10:21:00Z [Term] id: HP:0001438 name: Abnormality of abdomen morphology def: "A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax." [HPO:probinson] synonym: "Abdomen abnormality" RELATED layperson [] synonym: "Abnormality of abdomen morphology" EXACT layperson [] synonym: "Abnormality of the abdomen" EXACT [] xref: UMLS:C4020869 is_a: HP:0025031 ! Abnormality of the digestive system [Term] id: HP:0001440 name: Metatarsal synostosis alt_id: HP:0004705 alt_id: HP:0008098 synonym: "Fusion of metatarsals" EXACT [] synonym: "Fusion of the long bones of the feet" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Synostosis involving metatarsal bones" EXACT [] xref: UMLS:C1862697 is_a: HP:0001832 ! Abnormal metatarsal morphology is_a: HP:0009140 ! Synostosis involving bones of the feet is_a: HP:0100265 ! Synostosis of metacarpals/metatarsals created_by: peter creation_date: 2008-04-17T02:36:00Z [Term] id: HP:0001441 name: Abnormality of the musculature of the thigh synonym: "Abnormal thigh muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025783 is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs created_by: peter creation_date: 2008-04-07T10:27:00Z [Term] id: HP:0001442 name: Somatic mosaicism def: "The presence of genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations." [HPO:probinson, pmid:12360233] xref: UMLS:C1866227 is_a: HP:0001428 ! Somatic mutation [Term] id: HP:0001443 name: Abnormality of the gluteal musculature synonym: "Abnormality of glutes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025782 is_a: HP:0001469 ! Abnormality of the musculature of the pelvis created_by: peter creation_date: 2008-04-07T10:31:00Z [Term] id: HP:0001444 name: Autosomal dominant somatic cell mutation def: "Being related to a de novo variant that occurs in a single cell in developing somatic tissue. The cell is the progenitor of a population of identical mutant cells, all of which have descended from the cell that mutated. Clinical manifestations depend on the identity and proportion of affected cells in the body." [] xref: UMLS:C4025781 is_a: HP:0000006 ! Autosomal dominant inheritance [Term] id: HP:0001445 name: Abnormality of the hip-girdle musculature xref: UMLS:C4025780 is_a: HP:0001469 ! Abnormality of the musculature of the pelvis created_by: peter creation_date: 2008-04-07T10:31:00Z [Term] id: HP:0001446 name: Abnormality of the musculature of the upper limbs synonym: "Abnormal upper limb muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025779 is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0009127 ! Abnormality of the musculature of the limbs created_by: peter creation_date: 2008-04-07T10:40:00Z [Term] id: HP:0001449 name: Duplication of metatarsal bones synonym: "Duplication of long bones of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025778 is_a: HP:0001832 ! Abnormal metatarsal morphology is_a: HP:0009136 ! Duplication involving bones of the feet created_by: peter creation_date: 2008-04-17T02:37:00Z [Term] id: HP:0001450 name: Y-linked inheritance def: "A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome." [HPO:curators] xref: MSH:D050173 xref: UMLS:C0814045 is_a: HP:0010985 ! Gonosomal inheritance [Term] id: HP:0001452 name: Autosomal dominant contiguous gene syndrome xref: UMLS:C4025777 is_a: HP:0000006 ! Autosomal dominant inheritance is_a: HP:0001466 ! Contiguous gene syndrome [Term] id: HP:0001454 name: Abnormality of the upper arm xref: UMLS:C4025776 is_a: HP:0002817 ! Abnormality of the upper limb created_by: peter creation_date: 2008-04-07T10:41:00Z [Term] id: HP:0001457 name: Abnormality of the musculature of the upper arm xref: UMLS:C4025775 is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs is_a: HP:0001454 ! Abnormality of the upper arm created_by: peter creation_date: 2008-04-07T10:42:00Z [Term] id: HP:0001459 name: 1-3 toe syndactyly def: "Syndactyly with fusion of toes one to three." [HPO:sdoelken] synonym: "Webbed 1st-3rd toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025774 is_a: HP:0001770 ! Toe syndactyly [Term] id: HP:0001460 name: Aplasia/Hypoplasia involving the skeletal musculature def: "Absence or underdevelopment of the musculature." [HPO:curators] synonym: "Absent/small skeletal muscles" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped skeletal muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025773 is_a: HP:0030236 ! Abnormality of muscle size created_by: peter creation_date: 2008-04-07T10:46:00Z [Term] id: HP:0001464 name: Aplasia/Hypoplasia involving the shoulder musculature def: "Absence or underdevelopment of the muscles of the shoulder." [HPO:curators] synonym: "Absent/small shoulder muscles" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped shoulder muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025772 is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature is_a: HP:0001467 ! Aplasia/Hypoplasia involving the musculature of the upper limbs created_by: peter creation_date: 2008-04-07T10:49:00Z [Term] id: HP:0001465 name: Amyotrophy involving the shoulder musculature synonym: "Shoulder muscle degeneration" EXACT [ORCID:0000-0001-5208-3432] synonym: "Wasting of shoulder muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025771 is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature created_by: peter creation_date: 2008-04-07T10:50:00Z [Term] id: HP:0001466 name: Contiguous gene syndrome xref: UMLS:C1855496 is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0001467 name: Aplasia/Hypoplasia involving the musculature of the upper limbs def: "Absence or underdevelopment of the musculature of the upper limbs." [HPO:curators] synonym: "Absent/small upper limb muscles" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped upper limb muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025770 is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs is_a: HP:0009128 ! Aplasia/Hypoplasia involving the musculature of the extremities created_by: peter creation_date: 2008-04-07T10:51:00Z [Term] id: HP:0001468 name: Aplasia/Hypoplasia involving the musculature of the upper arm def: "Absence or underdevelopment of the muscles of the upper arm." [HPO:curators] synonym: "Absent/small upper arm muscles" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped upper arm muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025769 is_a: HP:0001457 ! Abnormality of the musculature of the upper arm is_a: HP:0001467 ! Aplasia/Hypoplasia involving the musculature of the upper limbs created_by: peter creation_date: 2008-04-07T10:52:00Z [Term] id: HP:0001469 name: Abnormality of the musculature of the pelvis xref: UMLS:C4025768 is_a: HP:0003011 ! Abnormality of the musculature created_by: peter creation_date: 2008-04-07T10:55:00Z [Term] id: HP:0001470 name: Sex-limited autosomal dominant xref: UMLS:C4025767 is_a: HP:0000006 ! Autosomal dominant inheritance [Term] id: HP:0001471 name: Aplasia/Hypoplasia of the musculature of the pelvis synonym: "Absent/small pelvis muscles" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped pelvis muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025766 is_a: HP:0001469 ! Abnormality of the musculature of the pelvis created_by: peter creation_date: 2008-04-07T10:56:00Z [Term] id: HP:0001472 name: obsolete Familial predisposition is_obsolete: true replaced_by: HP:0001426 [Term] id: HP:0001473 name: Metatarsal osteolysis alt_id: HP:0001866 def: "Osteolysis involving metatarsal bones." [HPO:probinson] synonym: "Osteolysis involving metatarsal bones" EXACT [] xref: UMLS:C1854614 is_a: HP:0001832 ! Abnormal metatarsal morphology is_a: HP:0009134 ! Osteolysis involving bones of the feet created_by: peter creation_date: 2008-04-17T02:38:00Z [Term] id: HP:0001474 name: Sclerotic scapulae def: "Increased density of the bony tissue of the scapula." [HPO:probinson] subset: hposlim_core xref: UMLS:C1849263 is_a: HP:0000782 ! Abnormality of the scapula is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0001475 name: Male-limited autosomal dominant xref: UMLS:C4025764 is_a: HP:0001470 ! Sex-limited autosomal dominant [Term] id: HP:0001476 name: Delayed closure of the anterior fontanelle def: "A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life." [HPO:probinson] synonym: "Delayed closure anterior fontanel" EXACT [] synonym: "Delayed closure of anterior fontanelle" EXACT [] synonym: "Delayed closure of the bregma sutures" EXACT [ORCID:0000-0001-5889-4463] synonym: "Delayed closure of the soft spot on the skull" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Late closure of anterior fontanelle" EXACT [ORCID:0000-0001-5889-4463] synonym: "Late closure of large anterior fontanel" EXACT [] synonym: "Late closure of soft spot on the skull" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Late closure of the bregma sutures" EXACT [ORCID:0000-0001-5889-4463] synonym: "Later than typical closing of soft spot of skull" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Persistent anterior fontanelle" EXACT [] xref: SNOMEDCT_US:295091000119100 xref: UMLS:C3840083 xref: UMLS:C4072831 is_a: HP:0000236 ! Abnormality of the anterior fontanelle is_a: HP:0000270 ! Delayed cranial suture closure [Term] id: HP:0001477 name: Compensatory chin elevation def: "A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement." [HPO:probinson] synonym: "Compensatory head tilt/chin elevation" EXACT [] xref: UMLS:C1846911 is_a: HP:0031705 ! Compensatory head posture [Term] id: HP:0001480 name: Freckling def: "The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin." [] synonym: "Freckling" EXACT layperson [] xref: MSH:D008548 xref: SNOMEDCT_US:403536009 xref: SNOMEDCT_US:699225003 xref: UMLS:C0016689 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001482 name: Subcutaneous nodule alt_id: HP:0005903 def: "Slightly elevated lesions on or in the skin with a diameter of over 5 mm." [HPO:probinson] comment: Subcutaneous nodules may move freely within the dermis or may be fixed to skin above or subcutaneous tissue below. subset: hposlim_core synonym: "Firm lump under the skin" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Growth of abnormal tissue under the skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Multiple, subcutaneous nodules" RELATED [] synonym: "Nodule below the skin" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Subcutaneous nodules" RELATED [] xref: SNOMEDCT_US:95325000 xref: UMLS:C0151811 xref: UMLS:C0746926 is_a: HP:0200036 ! Skin nodule [Term] id: HP:0001483 name: Eye poking def: "Repetitive pressing, poking, and/or rubbing in the eyes." [HPO:probinson, pmid:8881355] comment: Eye poking is usually observed in children with an intellectual and visual handicap. xref: SNOMEDCT_US:78894008 xref: UMLS:C0233593 is_a: HP:0000733 ! Stereotypy [Term] id: HP:0001487 name: obsolete Hypopigmented fundi is_obsolete: true replaced_by: HP:0007894 [Term] id: HP:0001488 name: Bilateral ptosis synonym: "Drooping of both upper eyelids" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1865916 is_a: HP:0000508 ! Ptosis [Term] id: HP:0001489 name: Posterior vitreous detachment def: "Separation of the vitreous humor from the retina." [HPO:probinson, PMID:24376338] comment: The vitreous humour is a transparent and colorless gel located between the retina and the lens. In posterior vitreous detachment (PVD), the vitreous membrane (which surrounds the vitreous humor) separates from the retina. This condition is common in individuals over 65 years of age but may occur in younger persons. PVD is often characterized by flashes of light and floaters, and may be complicated by retinal detachment. synonym: "Vitreous detachment" EXACT [] xref: MSH:D020255 xref: SNOMEDCT_US:247081001 xref: UMLS:C0423361 is_a: HP:0004327 ! Abnormal vitreous humor morphology [Term] id: HP:0001491 name: Congenital fibrosis of extraocular muscles def: "Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements." [HPO:probinson] subset: hposlim_core synonym: "CFEOM" EXACT HP:0045077 [HPO:skoehler] synonym: "Congenital fibrosis of the extraocular muscles" EXACT [] synonym: "Congenital ophthalmoplegia" EXACT [http://www.omim.org/entry/135700, ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] xref: MSH:C580012 xref: SNOMEDCT_US:400946004 xref: UMLS:C1302995 is_a: HP:0008049 ! Abnormality of the extraocular muscles [Term] id: HP:0001492 name: Axenfeld anomaly def: "Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line." [HPO:probinson] subset: hposlim_core xref: MSH:C535679 xref: SNOMEDCT_US:204152008 xref: UMLS:C0266548 is_a: HP:0007700 ! Ocular anterior segment dysgenesis [Term] id: HP:0001493 name: Falciform retinal fold alt_id: HP:0008013 def: "An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset." [HPO:probinson] synonym: "Congenital retinal fold" EXACT [] xref: SNOMEDCT_US:204181009 xref: UMLS:C0344550 is_a: HP:0008052 ! Retinal fold [Term] id: HP:0001495 name: Carpal osteolysis def: "Osteolysis affecting carpal bones." [HPO:probinson] subset: hposlim_core synonym: "Carpal bone osteolysis" EXACT [] xref: UMLS:C1833734 is_a: HP:0001191 ! Abnormality of the carpal bones is_a: HP:0045039 ! Osteolysis involving bones of the upper limbs [Term] id: HP:0001498 name: Carpal bone hypoplasia alt_id: HP:0001209 alt_id: HP:0006029 alt_id: HP:0006072 alt_id: HP:0006117 alt_id: HP:0006130 alt_id: HP:0006227 def: "Underdevelopment of one or more carpal bones." [HPO:probinson] subset: hposlim_core synonym: "Hypoplasia of carpal bones" EXACT [] synonym: "Hypoplastic carpal bones" EXACT [] synonym: "Small carpal bones" EXACT layperson [] synonym: "Small carpals" EXACT layperson [] synonym: "Small wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1863749 xref: UMLS:C4280594 is_a: HP:0006502 ! Aplasia/Hypoplasia involving the carpal bones [Term] id: HP:0001500 name: Broad finger alt_id: HP:0001497 def: "Increased width of a non-thumb digit of the hand." [pmid:19125433] comment: Note that the girth may be increased in a broad finger, but this must be distinguished from Macrodactyly, because there the length is also increased. This distinction can be subtle. This term should not be used when the increased width is limited to the distal phalanges, instead use Broad fingertips. The affected digit should be specified by the numbering scheme in the introduction. This term is not used for the first digit, see Broad thumbs. When a thumb and one or more fingers are affected, it may be more economical to specify "Broad fingers, F1-5" instead of separately specifying "Broad thumb" and "Broad fingers F2-5". subset: hposlim_core synonym: "Broad finger" EXACT layperson [] synonym: "Broad fingers" EXACT layperson [] synonym: "Wide fingers" EXACT layperson [] xref: UMLS:C1844906 is_a: HP:0001167 ! Abnormality of finger [Term] id: HP:0001501 name: 6 metacarpals synonym: "6 long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1861360 is_a: HP:0005917 ! Supernumerary metacarpal bones [Term] id: HP:0001504 name: Metacarpal osteolysis synonym: "Metacarpals osteolysis" EXACT [] xref: UMLS:C1854610 is_a: HP:0001163 ! Abnormality of the metacarpal bones is_a: HP:0045039 ! Osteolysis involving bones of the upper limbs [Term] id: HP:0001507 name: Growth abnormality alt_id: HP:0008904 synonym: "Abnormal growth" EXACT layperson [] synonym: "Growth abnormality" EXACT layperson [] synonym: "Growth issue" EXACT layperson [] xref: UMLS:C0262361 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001508 name: Failure to thrive alt_id: HP:0001535 alt_id: HP:0008853 alt_id: HP:0008878 alt_id: HP:0008916 def: "Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm." [HPO:probinson] comment: Although there is no clear consensus on the exact definition of FTT, it is usually diagnoses in a child growing below the 3rd percentile or in a child whose decreased growth has cross two major growth percentiles (for example, from above the 75th percentile to below the 25th percentile). synonym: "Faltering weight" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Poor weight gain" RELATED layperson [] synonym: "Postnatal failure to thrive" EXACT [] synonym: "Undergrowth" BROAD layperson [] synonym: "Weight faltering" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:36440009 xref: SNOMEDCT_US:432788009 xref: UMLS:C0231246 xref: UMLS:C2315100 is_a: HP:0004325 ! Decreased body weight [Term] id: HP:0001510 name: Growth delay alt_id: HP:0001434 alt_id: HP:0001512 alt_id: HP:0001514 alt_id: HP:0001517 alt_id: HP:0001532 alt_id: HP:0008847 alt_id: HP:0008870 alt_id: HP:0008886 alt_id: HP:0008893 alt_id: HP:0008926 def: "A deficiency or slowing down of growth pre- and postnatally." [HPO:probinson] comment: Poor or abnormally slow gains in weight or height in a child. synonym: "Delayed growth" EXACT layperson [] synonym: "Growth deficiency" EXACT layperson [] synonym: "Growth delay" EXACT layperson [] synonym: "Growth failure" EXACT layperson [] synonym: "Growth retardation" EXACT layperson [] synonym: "Poor growth" EXACT layperson [] synonym: "Retarded growth" EXACT layperson [] synonym: "Very poor growth" RELATED layperson [HPO:skoehler] xref: SNOMEDCT_US:276617005 xref: SNOMEDCT_US:444896005 xref: SNOMEDCT_US:59576002 xref: UMLS:C0151686 xref: UMLS:C0456070 xref: UMLS:C0878787 xref: UMLS:C1837385 xref: UMLS:C3552463 is_a: HP:0001507 ! Growth abnormality [Term] id: HP:0001511 name: Intrauterine growth retardation alt_id: HP:0001515 alt_id: HP:0008862 alt_id: HP:0008892 alt_id: HP:0008931 def: "An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age." [HPO:probinson] comment: Intrauterine growth restriction is a newer term that is preferred over Intrauterine growth retardation. The causes of IUGR include maternal abnormalities (chronic hypertension, cyanotic heart disease, smoking, drug abuse), placental or umbilical cord abnormalities (including placenta previa and cord anomalies), maternal medicationas, and genetic disorders of the fetus. synonym: "In utero growth retardation" EXACT [] synonym: "Intrauterine growth failure" EXACT [] synonym: "Intrauterine growth restriction" EXACT [] synonym: "Intrauterine growth retardation, IUGR" EXACT [] synonym: "Intrauterine retardation" EXACT [] synonym: "IUGR" EXACT HP:0045077 [HPO:skoehler] synonym: "Prenatal growth deficiency" EXACT layperson [] synonym: "Prenatal growth failure" EXACT [] synonym: "Prenatal growth retardation" EXACT layperson [] synonym: "Prenatal onset growth retardation" EXACT [] synonym: "Prenatal-onset growth retardation" EXACT [] synonym: "Small for gestational age infant" EXACT [] xref: MSH:D005317 xref: MSH:D007236 xref: SNOMEDCT_US:199612005 xref: SNOMEDCT_US:22033007 xref: UMLS:C0015934 xref: UMLS:C0021296 xref: UMLS:C1386048 is_a: HP:0001510 ! Growth delay [Term] id: HP:0001513 name: Obesity def: "Accumulation of substantial excess body fat." [] synonym: "Having too much body fat" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Obesity" EXACT layperson [] xref: MSH:D009765 xref: SNOMEDCT_US:414915002 xref: SNOMEDCT_US:414916001 xref: UMLS:C0028754 is_a: HP:0004324 ! Increased body weight [Term] id: HP:0001518 name: Small for gestational age alt_id: HP:0001422 alt_id: HP:0008849 alt_id: HP:0008919 alt_id: HP:0008927 def: "Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age." [DDD:hfirth] synonym: "Birth weight less than 10th percentile" EXACT layperson [] synonym: "Low birth weight" EXACT layperson [] synonym: "Small for gestational age" EXACT layperson [] xref: MSH:D007230 xref: SNOMEDCT_US:267258002 xref: SNOMEDCT_US:276610007 xref: UMLS:C0024032 xref: UMLS:C0235991 is_a: HP:0004325 ! Decreased body weight [Term] id: HP:0001519 name: Disproportionate tall stature alt_id: HP:0003511 alt_id: HP:0008864 def: "A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim." [DDD:hfirth, HPO:probinson] synonym: "Dolichostenomelia" EXACT [] synonym: "Marfanoid body habitus" EXACT [] synonym: "Marfanoid habitus" EXACT [] synonym: "Reduced upper-lower segment ratio" EXACT [] xref: MSH:D054119 xref: SNOMEDCT_US:62250003 xref: UMLS:C0003706 xref: UMLS:C1836996 is_a: HP:0000098 ! Tall stature [Term] id: HP:0001520 name: Large for gestational age alt_id: HP:0001825 def: "The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age." [eMedicine:262679, HPO:probinson] comment: Fetal macrosomia has been defined in several different ways, including birth weight of 4000-4500 g (8 lb 13 oz to 9 lb 15 oz) or greater than 90% for gestational age after correcting for neonatal sex and ethnicity. Based on these definitions, macrosomia affects 1-10% of all pregnancies. A diagnosis of fetal macrosomia can be made only by measuring birth weight after delivery; therefore, the condition is confirmed only retrospectively, ie, after delivery of the neonate. synonym: "Birth weight > 90th percentile" EXACT layperson [] synonym: "Birthweight > 90th percentile" EXACT layperson [] synonym: "Fetal macrosomia" EXACT [] synonym: "Macrosomia" EXACT [] synonym: "Macrosomia, neonatal" EXACT [HPO:skoehler] xref: UMLS:C1848395 is_a: HP:0004324 ! Increased body weight [Term] id: HP:0001522 name: Death in infancy alt_id: HP:0003816 alt_id: HP:0003817 alt_id: HP:0003818 alt_id: HP:0003823 alt_id: HP:0003827 def: "Death within the first 24 months of life." [HPO:probinson] synonym: "Death in early childhood" RELATED layperson [] synonym: "Death in infancy" EXACT layperson [] synonym: "Infantile death" EXACT layperson [] synonym: "Lethal in infancy" EXACT layperson [] xref: UMLS:C1844947 xref: UMLS:C1858430 is_a: HP:0011420 ! Age of death [Term] id: HP:0001525 name: Severe failure to thrive alt_id: HP:0008876 synonym: "Marked failure to thrive" EXACT [] synonym: "Severe faltering weight" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Severe postnatal failure to thrive" EXACT [] synonym: "Severe weight faltering" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1855514 is_a: HP:0001508 ! Failure to thrive [Term] id: HP:0001528 name: Hemihypertrophy alt_id: HP:0006416 def: "Overgrowth of only one side of the body." [HPO:probinson] synonym: "Asymmetric limb hypertrophy" EXACT [] synonym: "Asymmetric overgrowth" EXACT layperson [] xref: SNOMEDCT_US:205838004 xref: SNOMEDCT_US:56007004 xref: UMLS:C0332890 is_a: HP:0040064 ! Abnormality of limbs is_a: HP:0100555 ! Asymmetric growth [Term] id: HP:0001530 name: Mild postnatal growth retardation alt_id: HP:0008860 alt_id: HP:0008917 def: "A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms." [DDD:hfirth] synonym: "Mild growth deficiency" RELATED layperson [] synonym: "Postnatal onset of mild growth retardation" EXACT [] xref: UMLS:C1835580 xref: UMLS:C3550204 is_a: HP:0008897 ! Postnatal growth retardation [Term] id: HP:0001531 name: Failure to thrive in infancy alt_id: HP:0008863 alt_id: HP:0008925 synonym: "Failure to thrive in first year of life" EXACT [] synonym: "Faltering weight in infancy" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Weight faltering in infancy" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1867873 is_a: HP:0001508 ! Failure to thrive [Term] id: HP:0001533 name: Slender build alt_id: HP:0001529 def: "Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones." [HPO:probinson] comment: Slender, long-limbed habitus. synonym: "Asthenic habitus" EXACT [] synonym: "Slender build" EXACT layperson [] synonym: "Thin body habitus" EXACT [] synonym: "Thin build" EXACT layperson [ORCID:0000-0002-6548-5200] xref: UMLS:C1850573 is_a: HP:0000098 ! Tall stature is_a: HP:0004325 ! Decreased body weight [Term] id: HP:0001537 name: Umbilical hernia def: "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:probinson] subset: hposlim_core synonym: "Umbilical hernias" EXACT [] xref: Fyler:4445 xref: SNOMEDCT_US:396347007 xref: UMLS:C0019322 is_a: HP:0001551 ! Abnormal umbilicus morphology is_a: HP:0004299 ! Hernia of the abdominal wall [Term] id: HP:0001538 name: Protuberant abdomen def: "A thrusting or bulging out of the abdomen." [HPO:probinson] synonym: "Abdominal protuberance" EXACT [] synonym: "Belly sticks out" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Extended belly" EXACT layperson [ORCID:0000-0002-6548-5200] xref: UMLS:C1854928 is_a: HP:0003270 ! Abdominal distention [Term] id: HP:0001539 name: Omphalocele def: "A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord." [HPO:probinson] subset: hposlim_core synonym: "Omphalocoele" EXACT [] xref: Fyler:4404 xref: MEDDRA:10030309 "Omphalocoele" xref: MSH:D006554 xref: SNOMEDCT_US:18735004 xref: UMLS:C0795690 is_a: HP:0004299 ! Hernia of the abdominal wall [Term] id: HP:0001540 name: Diastasis recti def: "A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba)." [HPO:probinson] comment: Diastasis recti looks like a ridge, which runs down the middle of the abdomen and increases with muscle straining. Diastasis recti is not uncommon in pregnant women and is common and normal in newborns. subset: hposlim_core synonym: "Gap between large left and right abdominal muscles" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:62629000 xref: UMLS:C0221766 is_a: HP:0010991 ! Abnormality of the abdominal musculature [Term] id: HP:0001541 name: Ascites def: "Accumulation of fluid in the peritoneal cavity." [HPO:probinson] comment: Ascites is commonly associated with liver disease that has resulted in portal hypertension and low serum albumin levels. subset: hposlim_core synonym: "Accumulation of fluid in the abdomen" EXACT layperson [] xref: MSH:D001201 xref: SNOMEDCT_US:389026000 xref: UMLS:C0003962 is_a: HP:0001438 ! Abnormality of abdomen morphology [Term] id: HP:0001543 name: Gastroschisis def: "A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus." [HPO:probinson] subset: hposlim_core xref: MEDDRA:10018046 "Gastroschisis" xref: MSH:D020139 xref: SNOMEDCT_US:72951007 xref: UMLS:C0265706 is_a: HP:0010866 ! Abdominal wall defect [Term] id: HP:0001544 name: Prominent umbilicus def: "Abnormally prominent umbilicus (belly button)." [HPO:curators] synonym: "Prominent belly button" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Prominent navel" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1837795 is_a: HP:0001551 ! Abnormal umbilicus morphology [Term] id: HP:0001545 name: Anteriorly placed anus def: "Anterior malposition of the anus." [HPO:probinson] subset: hposlim_core synonym: "Anteriorly displaced anus" EXACT [] synonym: "Anus anteposition" EXACT [] xref: UMLS:C1838705 is_a: HP:0004397 ! Ectopic anus [Term] id: HP:0001547 name: Abnormality of the rib cage def: "A morphological anomaly of the rib cage." [HPO:probinson] synonym: "Abnormality of the rib cage" EXACT layperson [] xref: UMLS:C4025763 is_a: HP:0000765 ! Abnormality of the thorax [Term] id: HP:0001548 name: Overgrowth def: "Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference." [HPO:probinson] synonym: "Fetal overgrowth" RELATED [HPO:skoehler] synonym: "General overgrowth" EXACT layperson [] synonym: "Generalized overgrowth" RELATED [HPO:skoehler] xref: UMLS:C1849265 xref: UMLS:C1851731 xref: UMLS:C3150281 is_a: HP:0000098 ! Tall stature [Term] id: HP:0001549 name: Abnormal ileum morphology synonym: "Abnormality of the ileum" EXACT [] xref: UMLS:C4025762 is_a: HP:0002244 ! Abnormality of the small intestine created_by: peter creation_date: 2008-02-20T11:05:00Z [Term] id: HP:0001551 name: Abnormal umbilicus morphology def: "An abnormality of the structure or appearance of the umbilicus." [HPO:probinson] comment: The umbilicus is also known as the belly button or the navel. synonym: "Abnormal belly button" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormal navel" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormal umbilicus" EXACT [] xref: UMLS:C1849338 is_a: HP:0004298 ! Abnormality of the abdominal wall [Term] id: HP:0001552 name: Barrel-shaped chest alt_id: HP:0000781 alt_id: HP:0001553 def: "A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis." [HPO:probinson] comment: Barrel chest is often seen in persons with pulmonary emphysema or chronic obstructive pulmonary disease. subset: hposlim_core synonym: "Barrel chest" EXACT layperson [] synonym: "Barrel-shaped chest" EXACT layperson [] xref: SNOMEDCT_US:24228002 xref: UMLS:C0264172 is_a: HP:0100625 ! Enlarged thorax [Term] id: HP:0001555 name: Asymmetry of the thorax def: "Lack of symmetry between the left and right halves of the thorax." [HPO:probinson] subset: hposlim_core synonym: "Asymmetric chest" EXACT layperson [] xref: UMLS:C1858033 is_a: HP:0001547 ! Abnormality of the rib cage [Term] id: HP:0001557 name: Prenatal movement abnormality alt_id: HP:0007629 def: "An abnormality of fetal movement." [HPO:probinson] comment: Fetal movements generally become apparent during the second trimester of pregnancy around the 20th week but occasionally up to the 25th week. The initiation of perceptible fetal movements is referred to as 'quickening'. synonym: "Abnormal intrauterine movements" EXACT [] xref: UMLS:C1849510 is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0001558 name: Decreased fetal movement alt_id: HP:0001559 alt_id: HP:0006840 alt_id: HP:0007630 alt_id: HP:0007631 def: "An abnormal reduction in quantity or strength of fetal movements." [HPO:curators] synonym: "Decreased fetal activity" EXACT [] synonym: "Decreased fetal movements" EXACT [] synonym: "Decreased movement in utero" EXACT [] synonym: "Fetal hypokinesia" EXACT [] synonym: "Less than 10 fetal movements in 12 hours" EXACT layperson [PMID:2729383] synonym: "Reduced fetal movement" EXACT [] synonym: "Reduced fetal movements" EXACT [] xref: SNOMEDCT_US:276369006 xref: UMLS:C0235659 is_a: HP:0001557 ! Prenatal movement abnormality [Term] id: HP:0001560 name: Abnormality of the amniotic fluid def: "Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus." [HPO:curators] synonym: "Abnormal amniotic fluid" EXACT [] xref: SNOMEDCT_US:42170009 xref: UMLS:C0266781 is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0001561 name: Polyhydramnios alt_id: HP:0005098 def: "The presence of excess amniotic fluid in the uterus during pregnancy." [HPO:probinson] comment: Polyhydramnios is diagnosed if the deepest vertical pool of amniotic fluid is more than 8 cm or amniotic fluid index is more than 95th percentile for the corresponding gestational age. synonym: "High levels of amniotic fluid" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Hydramnios" EXACT [] xref: MSH:D006831 xref: SNOMEDCT_US:86203003 xref: UMLS:C0020224 is_a: HP:0001560 ! Abnormality of the amniotic fluid [Term] id: HP:0001562 name: Oligohydramnios alt_id: HP:0004638 def: "Diminished amniotic fluid volume in pregnancy." [HPO:probinson] comment: Oligohydramnios is the opposite of polyhydramnios. In normal pregnancy the amniotic fluid volume increases by about 10 ml/day until the 34th, after which it slowly diminishes. A normal amniotic fluid volume at term is about 500-2,000 ml. Oligohydramnios is defined as an AFI (amniotic fluid index) less than 5 cm or smallest vertical pocket of fluid less than 2 cm. synonym: "Low levels of amniotic fluid" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Maternal oligohydramnios" EXACT [] xref: MSH:D016104 xref: SNOMEDCT_US:59566000 xref: UMLS:C0079924 xref: UMLS:C3550658 is_a: HP:0001560 ! Abnormality of the amniotic fluid [Term] id: HP:0001563 name: Fetal polyuria def: "Abnormally increased production of urine by the fetus resulting in polyhydramnios." [HPO:probinson, pmid:21460147] comment: The fetal urine production rate can be measured by ultrasonography. xref: UMLS:C1865279 is_a: HP:0001560 ! Abnormality of the amniotic fluid [Term] id: HP:0001566 name: Widely-spaced maxillary central incisors alt_id: HP:0000669 alt_id: HP:0001570 alt_id: HP:0006300 alt_id: HP:0006324 def: "Increased distance between the maxillary central permanent incisor tooth." [HPO:ibailleulforestier] synonym: "Central incisor gap" BROAD layperson [] synonym: "Diastasis of the central incisors" EXACT [] synonym: "Diastema between maxillary central incisors" NARROW [ORCID:0000-0001-5889-4463] synonym: "Diastema between upper front teeth" NARROW [ORCID:0000-0001-5889-4463] synonym: "Diastema between upper incisors" NARROW [ORCID:0000-0001-5889-4463] synonym: "Gap between upper front teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Separated superior central incisors" EXACT [] synonym: "Wide gap between upper central incisors" EXACT layperson [] synonym: "Wide upper central incisors" EXACT [] synonym: "Widely spaced upper incisors" EXACT layperson [] xref: UMLS:C1835762 xref: UMLS:C1845110 xref: UMLS:C4280252 is_a: HP:0006304 ! Widely-spaced incisors [Term] id: HP:0001571 name: Multiple impacted teeth def: "The presence of multiple impacted teeth." [HPO:ibailleulforestier] synonym: "Impacted teeth" EXACT layperson [] synonym: "Multiple buried teeth" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Multiple impacted teeth" EXACT layperson [] synonym: "Multiple retained teeth" BROAD [ORCID:0000-0001-5889-4463] xref: UMLS:C1839965 xref: UMLS:C4280593 is_a: HP:0011079 ! Impacted tooth [Term] id: HP:0001572 name: Macrodontia def: "Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth." [HPO:ibailleulforestier, pmid:19125428] comment: The standard reference has means and standard deviations by gender [Moyers et al, 1976]. Although it is easy to measure the width of teeth, and the definition is made with reference to the width of teeth, macrodontia actually means that the overall size of the tooth is increased. subset: hposlim_core synonym: "Hyperplasia of tooth" BROAD [ORCID:0000-0001-5889-4463] synonym: "Hypertrophy of tooth" BROAD [ORCID:0000-0001-5889-4463] synonym: "Increased size of tooth" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Increased width of tooth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Large teeth" EXACT [] synonym: "Large tooth" BROAD layperson [] synonym: "Tooth mass excess" RELATED layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:71485000 xref: UMLS:C0266036 xref: UMLS:C4280590 xref: UMLS:C4280591 xref: UMLS:C4280592 is_a: HP:0006482 ! Abnormality of dental morphology [Term] id: HP:0001574 name: Abnormality of the integument def: "An abnormality of the integument, which consists of the skin and the superficial fascia." [HPO:probinson] comment: Abnormality of skin, hair, or nails. xref: UMLS:C4025761 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001575 name: Mood changes synonym: "Mood alterations" EXACT [] synonym: "Moody" EXACT layperson [] xref: SNOMEDCT_US:18963009 xref: UMLS:C0085633 is_a: HP:0100851 ! Abnormal emotion/affect behavior [Term] id: HP:0001579 name: Primary hypercortisolism def: "Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol." [HPO:probinson] synonym: "ACTH-independent hypercortisolemia" RELATED [] xref: UMLS:C1968852 xref: UMLS:C4025760 is_a: HP:0003118 ! Increased circulating cortisol level [Term] id: HP:0001580 name: Pigmented micronodular adrenocortical disease xref: UMLS:C1968851 is_a: HP:0000849 ! Adrenocortical abnormality [Term] id: HP:0001581 name: Recurrent skin infections alt_id: HP:0007563 def: "Infections of the skin that happen multiple times." [HPO:curators] synonym: "Cutaneous infections" EXACT [] synonym: "Recurrent skin infections" EXACT layperson [] synonym: "Skin infections" EXACT layperson [] synonym: "Skin infections, recurrent" EXACT layperson [HPO:skoehler] xref: UMLS:C1853193 is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0001582 name: Redundant skin alt_id: HP:0007391 def: "Loose and sagging skin often associated with loss of skin elasticity." [HPO:probinson] synonym: "Loose redundant skin" EXACT layperson [] synonym: "Redundant skin folds" EXACT layperson [] synonym: "Sagging, redundant skin" EXACT layperson [] xref: SNOMEDCT_US:201093004 xref: UMLS:C0581342 is_a: HP:0000973 ! Cutis laxa [Term] id: HP:0001583 name: Rotary nystagmus def: "A form of nystagmus in which the eyeball makes rotary motions around the axis." [HPO:probinson] subset: hposlim_core synonym: "Rotatory Nystagmus" EXACT [] xref: MSH:D009759 xref: SNOMEDCT_US:44526006 xref: SNOMEDCT_US:95783006 xref: UMLS:C0240595 is_a: HP:0000639 ! Nystagmus [Term] id: HP:0001586 name: Vesicovaginal fistula def: "The presence of a fistula connecting the urinary bladder to the vagina." [HPO:probinson] xref: MSH:D014719 xref: SNOMEDCT_US:89405008 xref: UMLS:C0042582 is_a: HP:0004320 ! Vaginal fistula is_a: HP:0004321 ! Bladder fistula [Term] id: HP:0001587 name: obsolete Primary ovarian failure is_obsolete: true [Term] id: HP:0001591 name: Bell-shaped thorax alt_id: HP:0006626 alt_id: HP:0006664 def: "The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter." [HPO:probinson] comment: A bell-shaped thorax is a non-specific finding. In newborns, bell-spahed thorax can indicate a history of intrauterine neuromuscular abnormalities. subset: hposlim_core synonym: "Bell-shaped chest" EXACT [] synonym: "Constricted, bell-shaped thorax" EXACT [] synonym: "Narrow, bell-shaped thorax" EXACT [] xref: UMLS:C1865186 is_a: HP:0001547 ! Abnormality of the rib cage [Term] id: HP:0001592 name: Selective tooth agenesis def: "Agenesis specifically affecting one of the classes incisor, premolar, or molar." [HPO:ibailleulforestier] synonym: "Absence of a tooth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Agenesis of a tooth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of a tooth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing a tooth" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1970308 xref: UMLS:C4280251 is_a: HP:0009804 ! Reduced number of teeth [Term] id: HP:0001593 name: Maxillary lateral incisor microdontia def: "Decreased size of the maxillary permanent incisor." [HPO:ibailleulforestier] synonym: "Decreased size of maxillary lateral incisor" BROAD [ORCID:0000-0001-5889-4463] synonym: "Decreased size of upper lateral incisor" BROAD [ORCID:0000-0001-5889-4463] synonym: "Decreased width of upper lateral incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypotrophic maxillary lateral incisor" BROAD [ORCID:0000-0001-5889-4463] synonym: "Hypotrophic upper lateral incisor" BROAD [ORCID:0000-0001-5889-4463] synonym: "Small maxillary lateral incisor" BROAD [ORCID:0000-0001-5889-4463] synonym: "Small upper lateral incisor" BROAD [ORCID:0000-0001-5889-4463] xref: UMLS:C1845111 xref: UMLS:C4280588 xref: UMLS:C4280589 is_a: HP:0000691 ! Microdontia is_a: HP:0011063 ! Abnormality of incisor morphology [Term] id: HP:0001595 name: Abnormal hair morphology def: "An abnormality of the hair." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the hair" EXACT layperson [] synonym: "Abnormality of the hair shaft" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Hair abnormality" EXACT layperson [] xref: UMLS:C0157733 xref: UMLS:C2677869 is_a: HP:0011138 ! Abnormality of skin adnexa morphology [Term] id: HP:0001596 name: Alopecia alt_id: HP:0002238 alt_id: HP:0008068 def: "Loss of hair from the head or body." [HPO:probinson] subset: hposlim_core synonym: "Hair loss" EXACT layperson [] xref: MEDDRA:10001760 "Alopecia" xref: MSH:D000505 xref: SNOMEDCT_US:278040002 xref: SNOMEDCT_US:56317004 xref: UMLS:C0002170 is_a: HP:0011362 ! Abnormal hair quantity [Term] id: HP:0001597 name: Abnormality of the nail def: "Abnormality of the nail." [HPO:probinson] comment: Abnormality of the fingernails and/or toenails. synonym: "Abnormality of the nail" EXACT layperson [] synonym: "Nail disease" RELATED layperson [] xref: MSH:D009260 xref: MSH:D009264 xref: SNOMEDCT_US:17790008 xref: UMLS:C0027339 xref: UMLS:C0853087 is_a: HP:0011138 ! Abnormality of skin adnexa morphology [Term] id: HP:0001598 name: Concave nail alt_id: HP:0001815 def: "The natural longitudinal (posterodistal) convex arch is not present or is inverted." [pmid:19125433] comment: Koilonychia literally means spoon nails. This often results in a saucer- or spoon-shaped nail and the free edge of the nail is typically everted. The affected digits should be specified. Note that the bundled term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. subset: hposlim_core synonym: "Koilonychia" EXACT [] synonym: "Spoon-shaped nails" EXACT layperson [] xref: SNOMEDCT_US:66270006 xref: UMLS:C0221261 is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0001600 name: Abnormality of the larynx def: "An abnormality of the larynx." [HPO:probinson] synonym: "Laryngeal abnormalities" EXACT [] synonym: "Laryngeal anomalies" EXACT [] xref: UMLS:C4021777 is_a: HP:0002087 ! Abnormality of the upper respiratory tract [Term] id: HP:0001601 name: Laryngomalacia def: "Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration." [HPO:probinson] comment: Laryngomalacia may affect the epiglottis, the arytenoid cartilages, or both. It is the most common cause of congenital stridor. synonym: "Softening of voice box tissue" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D055092 xref: SNOMEDCT_US:38086007 xref: UMLS:C0264303 is_a: HP:0025423 ! Abnormal larynx morphology [Term] id: HP:0001602 name: Laryngeal stenosis def: "Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing." [HPO:probinson] xref: MSH:D007829 xref: SNOMEDCT_US:75547007 xref: UMLS:C0023075 is_a: HP:0025423 ! Abnormal larynx morphology [Term] id: HP:0001604 name: Vocal cord paresis alt_id: HP:0001603 alt_id: HP:0001616 alt_id: HP:0008745 def: "Decreased strength of the vocal folds." [HPO:probinson] comment: Vocal cord paresis can be characterized by a hoarseness, reduced volume of speech, aspiration and pain in the throat. synonym: "Hoarse voice due to vocal cord paresis" EXACT [] synonym: "Vocal cord paresis in severe cases" EXACT [] synonym: "Weakness of the vocal cords" EXACT layperson [] xref: MSH:D014826 xref: SNOMEDCT_US:302912005 xref: SNOMEDCT_US:445424004 xref: UMLS:C0751576 xref: UMLS:C1832690 xref: UMLS:C1843187 xref: UMLS:C1853729 is_a: HP:0001605 ! Vocal cord paralysis [Term] id: HP:0001605 name: Vocal cord paralysis alt_id: HP:0001606 alt_id: HP:0006847 def: "A loss of the ability to move the vocal folds." [HPO:probinson] comment: Vocal cord paralysis may lead to signs and symptoms such as hoarseness, inability to speak loudly, choking or coughing while eating with the risk of aspiration pneumonia. Affected patients may also experience breathing difficulties. synonym: "Inability to move vocal cords" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Laryngeal paralysis" EXACT [] xref: MSH:D014826 xref: SNOMEDCT_US:302912005 xref: UMLS:C0042928 xref: UMLS:C1854345 is_a: HP:0003470 ! Paralysis is_a: HP:0031801 ! Vocal cord dysfunction [Term] id: HP:0001606 name: obsolete Vocal cord paralysis (caused by tumor impingement) is_obsolete: true replaced_by: HP:0001605 [Term] id: HP:0001607 name: Subglottic stenosis xref: SNOMEDCT_US:22668006 xref: UMLS:C0238441 is_a: HP:0025423 ! Abnormal larynx morphology [Term] id: HP:0001608 name: Abnormality of the voice comment: This term describes any abnormality of the voice, i.e., of the sounds produced by humans by the passage of air through the larynx and over the vocal cords, and then modified by the resonance organs, the nasopharynx, and the mouth. synonym: "Abnormality of the voice" EXACT layperson [] synonym: "Voice abnormality" EXACT layperson [] xref: UMLS:C4021776 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001609 name: Hoarse voice alt_id: HP:0001613 alt_id: HP:0001619 def: "Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky." [HPO:probinson] synonym: "Hoarse voice" EXACT layperson [] synonym: "Hoarseness" EXACT layperson [] synonym: "Husky voice" EXACT layperson [] xref: MSH:D006685 xref: SNOMEDCT_US:50219008 xref: UMLS:C0019825 xref: UMLS:C1854348 is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001611 name: Nasal speech alt_id: HP:0001614 def: "A type of speech characterized by the presence of an abnormally increased nasal airflow during speech." [HPO:sdoelken] comment: May be associated with incomplete or weak closure of the velum. Examination is by nasal endoscopy. synonym: "Hypernasal speech" EXACT [] synonym: "Hypernasal voice" EXACT [] synonym: "Nasal speech" EXACT layperson [] synonym: "Nasal voice" EXACT layperson [] xref: SNOMEDCT_US:229645001 xref: SNOMEDCT_US:289190003 xref: UMLS:C0454555 xref: UMLS:C0566620 is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001612 name: Weak cry xref: SNOMEDCT_US:2120003 xref: UMLS:C0234860 is_a: HP:0025429 ! Abnormal cry [Term] id: HP:0001613 name: obsolete Hoarse voice (caused by tumor impingement) is_obsolete: true replaced_by: HP:0001609 [Term] id: HP:0001615 name: Hoarse cry synonym: "Hoarse cry" EXACT layperson [] xref: UMLS:C2678303 is_a: HP:0001609 ! Hoarse voice [Term] id: HP:0001618 name: Dysphonia def: "An impairment in the ability to produce voice sounds." [HPO:probinson] synonym: "Inability to produce voice sounds" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D055154 xref: SNOMEDCT_US:47004009 xref: UMLS:C1527344 is_a: HP:0001608 ! Abnormality of the voice is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0001620 name: High pitched voice alt_id: HP:0001610 alt_id: HP:0008374 alt_id: HP:0008377 alt_id: HP:0008378 alt_id: HP:0008379 alt_id: HP:0009146 def: "An abnormal increase in the pitch (frequency) of the voice." [HPO:probinson] synonym: "High pitched voice" EXACT layperson [] synonym: "High-pitched voice" EXACT [] xref: SNOMEDCT_US:51406002 xref: UMLS:C0241703 is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001621 name: Weak voice def: "Reduced intensity (volume) of speech." [HPO:probinson] comment: Hypophonia refers to an abnormally weak voice due to incoordination of the muscles concerned in vocalization. synonym: "Hypophonia" RELATED [] synonym: "Soft voice" EXACT layperson [] synonym: "Weak voice" EXACT layperson [] xref: MSH:D014832 xref: SNOMEDCT_US:34527004 xref: SNOMEDCT_US:8614008 xref: UMLS:C0241700 xref: UMLS:C0521007 is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001622 name: Premature birth def: "The birth of a baby of less than 37 weeks of gestational age." [HPO:probinson] synonym: "Premature birth" EXACT layperson [] synonym: "Premature delivery" EXACT [] synonym: "Premature delivery of affected infants" EXACT layperson [] synonym: "Preterm delivery" EXACT layperson [] synonym: "Shortened gestation time" EXACT [] xref: MSH:D047928 xref: SNOMEDCT_US:282020008 xref: SNOMEDCT_US:367494004 xref: SNOMEDCT_US:49550006 xref: UMLS:C0151526 xref: UMLS:C0233315 is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0001623 name: Breech presentation def: "A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first." [HPO:probinson] synonym: "Breech presentation at birth" EXACT [] synonym: "Feet or buttocks of fetus positioned near opening of uterus" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D001946 xref: SNOMEDCT_US:249101006 xref: SNOMEDCT_US:6096002 xref: UMLS:C0006157 is_a: HP:0001787 ! Abnormal delivery [Term] id: HP:0001626 name: Abnormality of the cardiovascular system def: "Any abnormality of the cardiovascular system." [HPO:probinson] comment: The cardiovascular system consists of the heart, vasculature, and the lymphatic system. synonym: "Abnormality of the cardiovascular system" EXACT layperson [] synonym: "Cardiac anomaly" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Cardiovascular abnormality" EXACT layperson [] synonym: "Cardiovascular disease" RELATED layperson [] xref: MSH:D002318 xref: MSH:D018376 xref: SNOMEDCT_US:49601007 xref: UMLS:C0007222 xref: UMLS:C0243050 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001627 name: Abnormal heart morphology alt_id: HP:3000001 def: "Any structural anomaly of the heart." [HPO:probinson] synonym: "Abnormality of cardiac morphology" EXACT [] synonym: "Abnormality of the heart" EXACT layperson [] synonym: "Abnormally shaped heart" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cardiac abnormality" EXACT [] synonym: "Cardiac anomalies" EXACT [] synonym: "Congenital heart defect" EXACT [] synonym: "Congenital heart defects" EXACT [] xref: MSH:D006330 xref: SNOMEDCT_US:13213009 xref: UMLS:C0018798 xref: UMLS:C0152021 is_a: HP:0030680 ! Abnormality of cardiovascular system morphology [Term] id: HP:0001629 name: Ventricular septal defect alt_id: HP:0001652 def: "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators] synonym: "Hole in heart wall separating two lower heart chambers" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Ventricular septal defects" EXACT [] synonym: "Ventriculoseptal defect" EXACT [] xref: Fyler:1300 xref: MSH:D006345 xref: SNOMEDCT_US:253549006 xref: SNOMEDCT_US:30288003 xref: UMLS:C0018818 is_a: HP:0010438 ! Abnormal ventricular septum morphology [Term] id: HP:0001631 name: Atrial septal defect alt_id: HP:0001630 def: "Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum." [DDD:dbrown, HPO:probinson] synonym: "An opening in the wall separating the top two chambers of the heart" EXACT layperson [orcid.org/0000-0002-6548-5200] synonym: "ASD" EXACT HP:0045077 [HPO:skoehler] synonym: "Atria septal defect" EXACT [] synonym: "Atrial septum defect" EXACT [] synonym: "Defect in the atrial septum" EXACT [] synonym: "Hole in heart wall separating two upper heart chambers" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: Fyler:2050 xref: ICD-10:Q21.1 xref: MSH:D006344 xref: SNOMEDCT_US:253366007 xref: SNOMEDCT_US:405752007 xref: SNOMEDCT_US:70142008 xref: UMLS:C0018817 is_a: HP:0005120 ! Abnormal cardiac atrium morphology is_a: HP:0011994 ! Abnormal atrial septum morphology [Term] id: HP:0001633 name: Abnormal mitral valve morphology alt_id: HP:0031477 def: "Any structural anomaly of the mitral valve." [HPO:probinson] synonym: "Abnormality of the mitral valve" EXACT [] xref: UMLS:C4025759 is_a: HP:0006705 ! Abnormal atrioventricular valve morphology [Term] id: HP:0001634 name: Mitral valve prolapse def: "One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle." [HPO:probinson] comment: Mitral valve prolapse can be associated with mitral regurgitation. xref: Fyler:1533 xref: MSH:D008945 xref: SNOMEDCT_US:409712001 xref: SNOMEDCT_US:8074002 xref: UMLS:C0026267 is_a: HP:0001633 ! Abnormal mitral valve morphology [Term] id: HP:0001635 name: Congestive heart failure alt_id: HP:0006686 def: "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:probinson] synonym: "Cardiac failure" EXACT layperson [] synonym: "Cardiac failures" EXACT layperson [HPO:skoehler] synonym: "Cardiac insufficiency" EXACT [] synonym: "CHF" EXACT HP:0045077 [] synonym: "Chronic heart failure" EXACT [] synonym: "Heart failure" EXACT layperson [] xref: MSH:D006333 xref: SNOMEDCT_US:42343007 xref: SNOMEDCT_US:84114007 xref: UMLS:C0018801 xref: UMLS:C0018802 is_a: HP:0011025 ! Abnormal cardiovascular system physiology [Term] id: HP:0001636 name: Tetralogy of Fallot def: "A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present." [HPO:probinson] synonym: "Tetrology of fallot" EXACT [] xref: ICD-10:Q21.3 xref: MSH:D013771 xref: SNOMEDCT_US:86299006 xref: UMLS:C0039685 is_a: HP:0001710 ! Conotruncal defect [Term] id: HP:0001637 name: Abnormal myocardium morphology def: "A structural anomaly of the muscle layer of the heart wall." [] synonym: "Abnormality of the myocardium" EXACT [] xref: UMLS:C4025758 is_a: HP:0001627 ! Abnormal heart morphology [Term] id: HP:0001638 name: Cardiomyopathy def: "A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality." [HPO:probinson, pmid:17916581] synonym: "Disease of the heart muscle" EXACT layperson [orcid.org/0000-0002-6548-5200] xref: Fyler:1840 xref: MSH:D009202 xref: SNOMEDCT_US:57809008 xref: SNOMEDCT_US:85898001 xref: UMLS:C0878544 is_a: HP:0001637 ! Abnormal myocardium morphology [Term] id: HP:0001639 name: Hypertrophic cardiomyopathy def: "Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality." [pmid:17916581] synonym: "Cardiomyopathy, hypertrophic" EXACT [] synonym: "Enlarged and thickened heart muscle" EXACT layperson [orcid.org/0000-0002-6548-5200] xref: MSH:D002312 xref: SNOMEDCT_US:233873004 xref: SNOMEDCT_US:45227007 xref: UMLS:C0007194 is_a: HP:0001638 ! Cardiomyopathy [Term] id: HP:0001640 name: Cardiomegaly def: "Increased size of the heart." [HPO:probinson] synonym: "Enlarged heart" EXACT layperson [] synonym: "Increased heart size" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D006332 xref: SNOMEDCT_US:8186001 xref: UMLS:C0018800 is_a: HP:0001627 ! Abnormal heart morphology [Term] id: HP:0001641 name: Abnormal pulmonary valve morphology def: "Any structural abnormality of the pulmonary valve." [HPO:probinson] synonym: "Abnormality of the pulmonary valve" EXACT [] synonym: "Anomaly of the pulmonary valve" EXACT [] xref: Fyler:1600 xref: Fyler:1602 xref: SNOMEDCT_US:448643005 xref: UMLS:C3164374 is_a: HP:0001654 ! Abnormal heart valve morphology [Term] id: HP:0001642 name: Pulmonic stenosis def: "A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis)." [HPO:probinson] comment: Infundibular pulmonic stenosis is mostly caused by overgrowth of the heart muscle wall (hypertrophy of the septoparietal trabeculae). Pulmonic stenosis is often seen as a part of Fallot' s tetralogy, in which case the events leading to the formation of the overriding aorta are also believed to be a cause of the pulmonic stenosis. The pulmonic stenosis is the major cause of the malformations seen in patients with Fallot tetralogy, with the other associated malformations acting as compensatory mechanisms to the pulmonic stenosis. The degree of stenosis varies between individuals with TOF, and is the primary determinant of symptoms and severity. This malformation is infrequently described as sub-pulmonary stenosis or subpulmonary obstruction. synonym: "Narrowing of pulmonic valve" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Pulmonary stenosis" EXACT [] synonym: "Pulmonary valve stenosis" EXACT [] synonym: "Pulmonic valve stenosis" EXACT [] xref: Fyler:1611 xref: MSH:D011666 xref: SNOMEDCT_US:56786000 xref: UMLS:C1956257 is_a: HP:0031654 ! Abnormal pulmonary valve physiology [Term] id: HP:0001643 name: Patent ductus arteriosus def: "In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences." [HPO:probinson, pmid:20421261] synonym: "Ductus arteriosus" EXACT [] synonym: "Persistent arterial duct" EXACT [] synonym: "Persistent ductus arteriosus" EXACT [] xref: Fyler:2100 xref: MSH:D004374 xref: SNOMEDCT_US:83330001 xref: UMLS:C0013274 is_a: HP:0011603 ! Congenital malformation of the great arteries [Term] id: HP:0001644 name: Dilated cardiomyopathy alt_id: HP:0001725 alt_id: HP:0005159 alt_id: HP:0200130 def: "Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis." [pmid:17916581] synonym: "Cardiomyopathy, dilated" EXACT [] synonym: "Congestive cardiomyopathy" EXACT [] synonym: "Stretched and thinned heart muscle" EXACT layperson [orcid.org/0000-0002-6548-5200] xref: Fyler:1843 xref: MSH:D002311 xref: SNOMEDCT_US:195021004 xref: SNOMEDCT_US:399020009 xref: UMLS:C0007193 is_a: HP:0001638 ! Cardiomyopathy [Term] id: HP:0001645 name: Sudden cardiac death alt_id: HP:0005161 def: "The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset)." [HPO:probinson] synonym: "Premature sudden cardiac death" EXACT layperson [] synonym: "Sudden cardiac death" EXACT layperson [] xref: MSH:D016757 xref: SNOMEDCT_US:95281009 xref: UMLS:C0085298 is_a: HP:0001695 ! Cardiac arrest [Term] id: HP:0001646 name: Abnormal aortic valve morphology def: "Any abnormality of the aortic valve." [HPO:curators] synonym: "Abnormality of the aortic valve" EXACT [] xref: Fyler:1400 xref: Fyler:1408 xref: SNOMEDCT_US:448743001 xref: UMLS:C3164445 is_a: HP:0001654 ! Abnormal heart valve morphology [Term] id: HP:0001647 name: Bicuspid aortic valve def: "The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps)." [HPO:probinson, PMID:17467434, PMID:24827036] comment: A normal aortic valve is composed of three aortic-valve cusps, each semilunar in appearance. The leaflets are housed within a small dilatation of the proximal aorta associated with each cusp, called the sinuses of Valsalva or aortic sinuses, and their association with the respective coronary ostia identifies them: left, right, and non-coronary sinuses. Each cusp is attached to the wall of the aorta by the outward edges of its semicircular border, and the attachment point between each leaflet is called a commissure [PMID:24827036]. synonym: "Aortic valve has two leaflets rather than three" EXACT layperson [orcid.org/0000-0002-6548-5200] xref: MSH:C562388 xref: SNOMEDCT_US:72352009 xref: UMLS:C0149630 is_a: HP:0031567 ! Abnormal aortic valve cusp morphology [Term] id: HP:0001648 name: Cor pulmonale def: "Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle." [HPO:probinson] comment: Cor pulmonale refers to a change in structure and function of the right ventricle of the heart as a result of a pulmonary disorder, generally resulting in right ventricular hypertrophy. xref: MSH:D011660 xref: SNOMEDCT_US:274096000 xref: SNOMEDCT_US:83291003 xref: UMLS:C0034072 is_a: HP:0001707 ! Abnormal right ventricle morphology [Term] id: HP:0001649 name: Tachycardia alt_id: HP:0001673 alt_id: HP:0001720 def: "A rapid heartrate that exceeds the range of the normal resting heartrate for age." [HPO:probinson] synonym: "Elevated heart rate" RELATED layperson [] synonym: "Fast heart rate" EXACT layperson [] synonym: "Heart racing" EXACT layperson [] synonym: "Increased heart rate" RELATED layperson [] synonym: "Racing heart" EXACT layperson [] synonym: "Rapid heart beat" RELATED layperson [] xref: MSH:D013610 xref: SNOMEDCT_US:3424008 xref: SNOMEDCT_US:86651002 xref: UMLS:C0039231 xref: UMLS:C4020868 is_a: HP:0011675 ! Arrhythmia [Term] id: HP:0001650 name: Aortic valve stenosis alt_id: HP:0005140 def: "The presence of a stenosis (narrowing) of the aortic valve." [HPO:probinson] comment: Aortic stenosis can lead to a pressure gradient between the left ventricle and the aorta and may result in left ventricular hypertrophy and decreased left ventricular compliance. synonym: "Aortic stenosis" EXACT [] synonym: "Narrowing of aortic valve" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Valvular aortic stenosis" EXACT [] xref: Fyler:1411 xref: MSH:D001024 xref: SNOMEDCT_US:60573004 xref: UMLS:C0003507 is_a: HP:0031652 ! Abnormal aortic valve physiology [Term] id: HP:0001651 name: Dextrocardia def: "The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or \"mirror reflection\") of the anatomical location of the heart in which the heart is locate on the right side instead of the left." [DDD:dbrown, HPO:sdoelken] synonym: "Heart tip and four chambers point towards right side of body" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Thoracic situs inversus" EXACT [] xref: EPCC:02.01.02 xref: Fyler:0110 xref: Fyler:110 xref: ICD-10:Q24.0 xref: MSH:D003914 xref: SNOMEDCT_US:27637000 xref: UMLS:C0011813 is_a: HP:0004307 ! Abnormal anatomic location of the heart [Term] id: HP:0001653 name: Mitral regurgitation def: "An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction." [HPO:probinson] synonym: "Mitral incompetence" EXACT [] synonym: "Mitral insufficiency" EXACT [] synonym: "Mitral regurgitation, mild" RELATED [] synonym: "Mitral valve insufficiency" EXACT [] synonym: "Mitral valve regurgitation" EXACT [] xref: Fyler:1151 xref: MSH:D008944 xref: SNOMEDCT_US:48724000 xref: UMLS:C0026266 xref: UMLS:C3551535 is_a: HP:0031481 ! Abnormal mitral valve physiology [Term] id: HP:0001654 name: Abnormal heart valve morphology alt_id: HP:0001703 def: "Any structural abnormality of a cardiac valve." [HPO:probinson] synonym: "Abnormality of the heart valves" EXACT [] synonym: "Valvular abnormality" EXACT [] synonym: "Valvular heart disease" RELATED [] xref: MSH:D006349 xref: SNOMEDCT_US:368009 xref: UMLS:C0018824 xref: UMLS:C0241654 is_a: HP:0001627 ! Abnormal heart morphology [Term] id: HP:0001655 name: Patent foramen ovale def: "Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria." [DDD:dbrown, HPO:probinson] comment: The foramen ovale is located in the atrial septum and is essential for proper fetal circulation. With separation from the placenta and with the first few breaths, the left atrium fills with blood returning from the lungs and closes the foramen ovale. Subsequently, during the first years of life, the foramen ovale seals shut. xref: Fyler:2020 xref: ICD-10:Q21.1 xref: MSH:D054092 xref: SNOMEDCT_US:204317008 xref: UMLS:C0016522 is_a: HP:0001631 ! Atrial septal defect [Term] id: HP:0001657 name: Prolonged QT interval def: "Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG)." [HPO:probinson] comment: The QT interval represents electrical depolarization and repolarization of the left and right ventricles. synonym: "Long Q-T syndrome" RELATED [] synonym: "Long QT syndrome" EXACT [] synonym: "Prolong qt interval on ekg" EXACT [] xref: SNOMEDCT_US:111975006 xref: UMLS:C0151878 is_a: HP:0031547 ! Abnormal QT interval [Term] id: HP:0001658 name: Myocardial infarction def: "Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin." [HPO:probinson] synonym: "Heart attack" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "MI" EXACT HP:0045077 [] xref: MSH:D009203 xref: SNOMEDCT_US:22298006 xref: UMLS:C0027051 is_a: HP:0011025 ! Abnormal cardiovascular system physiology [Term] id: HP:0001659 name: Aortic regurgitation def: "An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle." [HPO:probinson] synonym: "Aortic insufficiency" EXACT [] synonym: "Aortic valve regurgitation" EXACT [] xref: MSH:D001022 xref: SNOMEDCT_US:60234000 xref: UMLS:C0003504 is_a: HP:0031652 ! Abnormal aortic valve physiology [Term] id: HP:0001660 name: Truncus arteriosus def: "A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract." [DDD:dbrown, HPO:probinson] synonym: "Common arterial trunk" EXACT [] synonym: "Persistant truncus arteriosus" RELATED [] xref: Fyler:0500 xref: Fyler:500 xref: ICD-10:Q20.0 xref: MSH:D014338 xref: SNOMEDCT_US:58140002 xref: UMLS:C0041206 xref: UMLS:C4020867 is_a: HP:0011603 ! Congenital malformation of the great arteries [Term] id: HP:0001662 name: Bradycardia def: "A slower than normal heart rate (in adults, slower than 60 beats per minute)." [HPO:probinson] synonym: "Brachycardia" EXACT [] synonym: "Slow heartbeats" EXACT layperson [] xref: MSH:D001919 xref: SNOMEDCT_US:48867003 xref: UMLS:C0428977 is_a: HP:0011675 ! Arrhythmia [Term] id: HP:0001663 name: Ventricular fibrillation alt_id: HP:0005166 def: "Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations." [HPO:probinson] xref: MSH:D014693 xref: SNOMEDCT_US:71908006 xref: UMLS:C0042510 is_a: HP:0004308 ! Ventricular arrhythmia [Term] id: HP:0001664 name: Torsade de pointes def: "A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG." [HPO:probinson] synonym: "Torsades de pointes" EXACT [] xref: MSH:D016171 xref: SNOMEDCT_US:31722008 xref: UMLS:C0040479 is_a: HP:0004308 ! Ventricular arrhythmia [Term] id: HP:0001667 name: Right ventricular hypertrophy def: "In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal." [HPO:probinson] synonym: "Heart right ventricle hypertrophy" EXACT [ORCID:0000-0001-5208-3432] xref: Fyler:3609 xref: MSH:D017380 xref: SNOMEDCT_US:89792004 xref: UMLS:C0162770 is_a: HP:0001707 ! Abnormal right ventricle morphology is_a: HP:0001714 ! Ventricular hypertrophy [Term] id: HP:0001669 name: Transposition of the great arteries def: "A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle." [eMedicine:900574, HPO:probinson, pmid:10798431] synonym: "Transposition of great vessels" EXACT [] xref: SNOMEDCT_US:204296002 xref: SNOMEDCT_US:26146002 xref: UMLS:C3536741 is_a: HP:0011563 ! Abnormal ventriculoarterial connection is_a: HP:0011603 ! Congenital malformation of the great arteries [Term] id: HP:0001670 name: Asymmetric septal hypertrophy def: "Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray." [HPO:probinson, pmid:17916581] xref: UMLS:C0205700 is_a: HP:0001639 ! Hypertrophic cardiomyopathy [Term] id: HP:0001671 name: Abnormal cardiac septum morphology alt_id: HP:0001690 alt_id: HP:0004760 def: "An anomaly of the intra-atrial or intraventricular septum." [HPO:probinson] synonym: "Abnormality of the cardiac septa" EXACT [] synonym: "Heart septal defect" EXACT [] synonym: "Septal defects" EXACT HP:0045078 [] xref: MSH:D006343 xref: SNOMEDCT_US:253273004 xref: SNOMEDCT_US:396351009 xref: SNOMEDCT_US:59494005 xref: UMLS:C0018816 is_a: HP:0001627 ! Abnormal heart morphology [Term] id: HP:0001673 name: obsolete Tachycardia (with pheochromocytoma) is_obsolete: true replaced_by: HP:0001649 [Term] id: HP:0001674 name: Complete atrioventricular canal defect alt_id: HP:0001689 alt_id: HP:0006697 def: "A congenital heart defect characteizred by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect." [DDD:dbrown, HPO:probinson, pmid:16722604] comment: The complete form of AVC shows an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the interventricular septum inlet. CAVC can be classified into types A, B or C according to the morphology of the common atrioventricular valve. synonym: "Atrioventricular canal" EXACT [] synonym: "Common atrioventricular canal" EXACT [] synonym: "Complete atrioventricular septal defect" EXACT [] synonym: "Complete common AV canal" EXACT [] xref: Fyler:1120 xref: MSH:C562831 xref: SNOMEDCT_US:253414002 xref: UMLS:C1389018 is_a: HP:0006695 ! Atrioventricular canal defect [Term] id: HP:0001675 name: obsolete Rhythm disturbances associated with pheochromocytoma is_obsolete: true replaced_by: HP:0011675 [Term] id: HP:0001676 name: obsolete Palpitations (with pheochromocytoma) is_obsolete: true replaced_by: HP:0001962 [Term] id: HP:0001677 name: Coronary artery atherosclerosis alt_id: HP:0004929 alt_id: HP:0005138 def: "Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia." [HPO:probinson] comment: Coronary artery disease, also called atherosclerotic heart disease, is the result of atheromatous plaques within the coronary arteries leading to myocardial ischemia and infarction. synonym: "Coronary atherosclerosis" EXACT [] synonym: "Coronary disease" EXACT [] synonym: "Plaque build-up in arteries supplying blood to heart" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D003324 xref: SNOMEDCT_US:414024009 xref: SNOMEDCT_US:53741008 xref: UMLS:C1956346 is_a: HP:0002621 ! Atherosclerosis is_a: HP:0006704 ! Abnormal coronary artery morphology is_a: HP:0100545 ! Arterial stenosis [Term] id: HP:0001678 name: Atrioventricular block alt_id: HP:0001668 alt_id: HP:0005142 alt_id: HP:0006672 def: "Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles." [HPO:probinson] synonym: "Atrioventricular nodal disease" RELATED [] synonym: "Interruption of electrical communication between upper and lower chambers of heart" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D054537 xref: SNOMEDCT_US:233917008 xref: UMLS:C0004245 xref: UMLS:C1841659 is_a: HP:0005150 ! Abnormal atrioventricular conduction is_a: HP:0012722 ! Heart block [Term] id: HP:0001679 name: Abnormal aortic morphology alt_id: HP:0030963 def: "An abnormality of the aorta." [HPO:probinson, PMID:24910511] synonym: "Abnormal aorta morphology" EXACT [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the aorta" EXACT [] xref: Fyler:1453 xref: UMLS:C4025756 is_a: HP:0011004 ! Abnormal systemic arterial morphology is_a: HP:0030962 ! Abnormal morphology of the great vessels [Term] id: HP:0001680 name: Coarctation of aorta def: "Coarctation of the aorta is a narrowing or constriction of a segment of the aorta." [HPO:probinson, PMID:23909637] comment: Coarctation refers to a narrowing of the lumen of a vessel producing an obstruction to flow. Coarctation can occur in any region of the aorta. Coarctation of the aorta is often a discrete obstruction commonly located in the descending thoracic aorta. More specifically, it is usually located in the juxtaductal position immediately distal to the left-subclavian artery in a left-sided arch. The hallmark clinical finding in coarctation of the aorta is hypertension proximal to the lesion, with diminished blood pressure distal to the obstruction. Consequently, clinical diagnosis can be made by the presence of diminished lower extremity pulses, differences in timing between upper extremity central pulses (often brachial) and lower extremity central pulses (often femoral), or the presence of a supine arm-leg blood pressure gradient. synonym: "Aortic coarctation" EXACT [] synonym: "Coarctation of the aorta" EXACT [] synonym: "Narrowing of aorta" EXACT layperson [orcid.org/0000-0002-6548-5200] synonym: "Narrowing of the aorta" EXACT layperson [orcid.org/0000-0002-6548-5200] xref: MSH:D001017 xref: SNOMEDCT_US:7305005 xref: UMLS:C0003492 is_a: HP:0001679 ! Abnormal aortic morphology [Term] id: HP:0001681 name: Angina pectoris def: "Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia." [HPO:probinson] xref: MSH:D000787 xref: SNOMEDCT_US:194828000 xref: SNOMEDCT_US:225566008 xref: UMLS:C0002962 is_a: HP:0011025 ! Abnormal cardiovascular system physiology [Term] id: HP:0001682 name: Subvalvular aortic stenosis def: "A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve." [HPO:probinson] comment: Narrowing of the left ventricle of the heart just below the aortic valve through which blood must pass on its way up into the aorta. synonym: "Narrowing of blood vessel below aortic heart valve" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Subaortic stenosis" EXACT [] xref: MSH:D001020 xref: SNOMEDCT_US:204368006 xref: UMLS:C0340375 is_a: HP:0011103 ! Abnormal left ventricular outflow tract morphology [Term] id: HP:0001683 name: Ectopia cordis def: "Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall." [DDD:dbrown] comment: See Moss and Adams 'Heart Disease in Infants, Children and Adolescents' p1168. Ectopia cordis has a very poor prognosis. Ectopia cordis is generally divided into five types: cervical, cervicothoracic, thoracic, abdominal, and thoracicoabdominal. Ectopia cordis is rare (5-8 per million live births), but the two most common forms are thoracic (59%) and thoracicoabdominal (38%). xref: Fyler:0170 xref: Fyler:170 xref: MSH:D054083 xref: SNOMEDCT_US:78250005 xref: UMLS:C0013580 is_a: HP:0004307 ! Abnormal anatomic location of the heart [Term] id: HP:0001684 name: Secundum atrial septal defect alt_id: HP:0200131 def: "A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum." [DDD:dbrown, HPO:probinson] synonym: "Atrial septal defect, ostium secundum type" EXACT [HPO:skoehler] synonym: "Ostium secundum atrial septal defect" EXACT [] synonym: "Patent ostium secundum" EXACT [] xref: Fyler:2000 xref: ICD-10:Q21.1 xref: MSH:D006344 xref: SNOMEDCT_US:204315000 xref: UMLS:C0344724 is_a: HP:0001631 ! Atrial septal defect [Term] id: HP:0001685 name: Myocardial fibrosis def: "Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts." [PMID:28157267] comment: Myocardial fibrosis disrupts the myocardial architecture, contributes to myocardial disarray, and determines mechanical, electrical, and vasomotor dysfunction, thus promoting the progression of cardiac diseases to heart failure. xref: UMLS:C0151654 is_a: HP:0001637 ! Abnormal myocardium morphology [Term] id: HP:0001686 name: Loss of voice synonym: "Aphonia" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] xref: MSH:D001044 xref: SNOMEDCT_US:441913003 xref: SNOMEDCT_US:44564008 xref: UMLS:C0003564 is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001688 name: Sinus bradycardia alt_id: HP:0005137 def: "Bradycardia related to a mean resting sinus rate of less than 50 beats per minute." [HPO:probinson] xref: Fyler:7013 xref: SNOMEDCT_US:49710005 xref: UMLS:C0085610 is_a: HP:0001662 ! Bradycardia is_a: HP:0011702 ! Abnormal electrophysiology of sinoatrial node origin [Term] id: HP:0001691 name: Muscular subvalvular aortic stenosis def: "A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract." [HPO:probinson] synonym: "Muscular subaortic stenosis" EXACT [] xref: UMLS:C3887554 is_a: HP:0001682 ! Subvalvular aortic stenosis [Term] id: HP:0001692 name: Atrial arrhythmia def: "A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance." [DDD:dbrown] synonym: "Primary atrial arrhythmia" RELATED [] xref: SNOMEDCT_US:17366009 xref: UMLS:C0085611 xref: UMLS:C4025755 is_a: HP:0005115 ! Supraventricular arrhythmia [Term] id: HP:0001693 name: Cardiac shunt def: "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system." [HPO:probinson] xref: SNOMEDCT_US:442119001 xref: UMLS:C0232180 is_a: HP:0011028 ! Abnormality of blood circulation [Term] id: HP:0001694 name: Right-to-left shunt def: "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left." [HPO:mhaendel] xref: SNOMEDCT_US:79692001 xref: UMLS:C0428871 is_a: HP:0001693 ! Cardiac shunt [Term] id: HP:0001695 name: Cardiac arrest def: "An abrupt loss of heart function." [] synonym: "Heart stops beating" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D006323 xref: SNOMEDCT_US:397829000 xref: SNOMEDCT_US:410429000 xref: UMLS:C0018790 is_a: HP:0011675 ! Arrhythmia [Term] id: HP:0001696 name: Situs inversus totalis def: "A left-right reversal (or \"mirror reflection\") of the anatomical location of the major thoracic and abdominal organs." [DDD:dbrown, HPO:probinson] synonym: "All organs on wrong side of body" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Situs inversus" RELATED [] synonym: "situs oppositus" EXACT [] synonym: "situs transversus" EXACT [] xref: Fyler:0100 xref: Fyler:100 xref: MSH:D012857 xref: MSH:D059446 xref: SNOMEDCT_US:14821001 xref: SNOMEDCT_US:24614000 xref: SNOMEDCT_US:27317008 xref: SNOMEDCT_US:43876007 xref: UMLS:C0037221 xref: UMLS:C0266642 is_a: HP:0001651 ! Dextrocardia is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments [Term] id: HP:0001697 name: Abnormal pericardium morphology def: "An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery." [HPO:probinson] synonym: "Abnormality of the pericardium" EXACT [] xref: Fyler:1900 xref: UMLS:C4025754 is_a: HP:0001627 ! Abnormal heart morphology [Term] id: HP:0001698 name: Pericardial effusion def: "Accumulation of fluid within the pericardium." [HPO:probinson] synonym: "Fluid around heart" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Pericardial effusions" EXACT [] xref: Fyler:1940 xref: MSH:D010490 xref: SNOMEDCT_US:373945007 xref: UMLS:C0031039 is_a: HP:0001697 ! Abnormal pericardium morphology [Term] id: HP:0001699 name: Sudden death def: "Rapid and unexpected death." [HPO:probinson] xref: MSH:D003645 xref: SNOMEDCT_US:26636000 xref: UMLS:C0011071 is_a: HP:0011420 ! Age of death [Term] id: HP:0001700 name: Myocardial necrosis def: "Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction)." [PMID:20405318] xref: SNOMEDCT_US:251061000 xref: UMLS:C1442837 is_a: HP:0001637 ! Abnormal myocardium morphology [Term] id: HP:0001701 name: Pericarditis def: "Inflammation of the sac-like covering around the heart (pericardium)." [HPO:probinson] synonym: "Swelling or irritation of membrane around heart" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:D010493 xref: SNOMEDCT_US:3238004 xref: UMLS:C0031046 is_a: HP:0001697 ! Abnormal pericardium morphology is_a: HP:0045073 ! Serositis [Term] id: HP:0001702 name: Abnormal tricuspid valve morphology alt_id: HP:0031440 def: "Any structural anomaly of the tricuspid valve." [HPO:probinson] synonym: "Abnormality of the tricuspid valve" EXACT [] xref: EPCC:06.01.00 xref: UMLS:C4025753 is_a: HP:0006705 ! Abnormal atrioventricular valve morphology [Term] id: HP:0001704 name: Tricuspid valve prolapse def: "One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle." [HPO:probinson] xref: Fyler:1733 xref: MSH:D014263 xref: SNOMEDCT_US:253383003 xref: UMLS:C0040962 is_a: HP:0001702 ! Abnormal tricuspid valve morphology [Term] id: HP:0001705 name: Right ventricular outlet tract obstruction def: "An obstruction to the forward flow of blood in the outflow tract of the right ventricle." [PMID:30038501] synonym: "Right ventricular outlet obstruction" EXACT [] xref: MSH:D014694 xref: UMLS:C0035619 is_a: HP:0030872 ! Abnormal cardiac ventricular function [Term] id: HP:0001706 name: Endocardial fibroelastosis def: "Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction" [PMID:23109776] xref: MSH:D004695 xref: SNOMEDCT_US:65457005 xref: UMLS:C0014117 is_a: HP:0004306 ! Abnormal endocardium morphology [Term] id: HP:0001707 name: Abnormal right ventricle morphology def: "An abnormality of the right ventricle of the heart." [HPO:probinson] comment: The function of the right ventricle is to receive blood from the right atrium and to eject blood into the pulmonary artery. synonym: "Abnormality of the right ventricle" EXACT [] synonym: "Right ventricular abnormality" EXACT [] xref: Fyler:1820 xref: SNOMEDCT_US:253516002 xref: UMLS:C0344887 is_a: HP:0001713 ! Abnormal cardiac ventricle morphology [Term] id: HP:0001708 name: Right ventricular failure def: "Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly." [HPO:probinson] synonym: "Impaired right ventricular function" EXACT [] synonym: "Right ventricular impairment" EXACT [] synonym: "Right-sided heart failure" EXACT [] xref: MSH:D006333 xref: SNOMEDCT_US:128404006 xref: SNOMEDCT_US:367363000 xref: UMLS:C0235527 xref: UMLS:C2939447 is_a: HP:0030872 ! Abnormal cardiac ventricular function [Term] id: HP:0001709 name: Third degree atrioventricular block def: "Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them." [PMID:21841933] synonym: "Complete heart block" EXACT layperson [] synonym: "Third-degree heart block" RELATED [] xref: SNOMEDCT_US:27885002 xref: UMLS:C0151517 is_a: HP:0001678 ! Atrioventricular block [Term] id: HP:0001710 name: Conotruncal defect def: "A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle." [HPO:probinson] synonym: "Conotruncal heart defects" EXACT [] xref: UMLS:C1853238 is_a: HP:0011563 ! Abnormal ventriculoarterial connection is_a: HP:0011603 ! Congenital malformation of the great arteries [Term] id: HP:0001711 name: Abnormal left ventricle morphology def: "Any structural abnormality of the left ventricle of the heart." [HPO:probinson] synonym: "Abnormal heart left ventricle morphology" EXACT [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the left ventricle" EXACT [] synonym: "Left ventricular abnormality" EXACT [] xref: Fyler:1810 xref: SNOMEDCT_US:253535002 xref: UMLS:C0344905 is_a: HP:0001713 ! Abnormal cardiac ventricle morphology [Term] id: HP:0001712 name: Left ventricular hypertrophy alt_id: HP:0005171 def: "Enlargement or increased size of the heart left ventricle." [MP:0002625] synonym: "Heart left ventricle hypertrophy" EXACT [ORCID:0000-0001-5208-3432] synonym: "Left ventricular wall hypertrophy" EXACT [] xref: Fyler:3608 xref: MSH:D017379 xref: SNOMEDCT_US:55827005 xref: UMLS:C0149721 is_a: HP:0001711 ! Abnormal left ventricle morphology is_a: HP:0001714 ! Ventricular hypertrophy [Term] id: HP:0001713 name: Abnormal cardiac ventricle morphology def: "An abnormality of a cardiac ventricle." [HPO:probinson] synonym: "Abnormality of cardiac ventricle" EXACT [] xref: UMLS:C4025752 is_a: HP:0001627 ! Abnormal heart morphology [Term] id: HP:0001714 name: Ventricular hypertrophy alt_id: HP:0005167 def: "Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy." [HPO:probinson] xref: SNOMEDCT_US:266249003 xref: UMLS:C0340279 is_a: HP:0001713 ! Abnormal cardiac ventricle morphology [Term] id: HP:0001716 name: Wolff-Parkinson-White syndrome def: "A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway." [HPO:probinson] xref: MSH:D014927 xref: SNOMEDCT_US:74390002 xref: UMLS:C0043202 is_a: HP:0004309 ! Ventricular preexcitation [Term] id: HP:0001717 name: Coronary artery calcification def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery." [HPO:probinson] xref: SNOMEDCT_US:445512009 xref: UMLS:C1611184 is_a: HP:0003207 ! Arterial calcification is_a: HP:0006704 ! Abnormal coronary artery morphology [Term] id: HP:0001718 name: Mitral stenosis alt_id: HP:0005163 def: "An abnormal narrowing of the orifice of the mitral valve." [DDD:dbrown] synonym: "Mitral valve stenosis" EXACT [] xref: EPCC:06.02.92 xref: Fyler:1511 xref: ICD-10:Q23.2 xref: MSH:D008946 xref: SNOMEDCT_US:79619009 xref: UMLS:C0026269 is_a: HP:0031481 ! Abnormal mitral valve physiology [Term] id: HP:0001719 name: Double outlet right ventricle def: "Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle." [HPO:probinson, pmid:10798433] comment: During the development of the heart, the outflow tract initially connects exclusively with the primitive right ventricle and must undergo extensive remodelling to divide into a separate pulmonary artery and aorta; subsequently, there is continued remodelling to establish direct continuity from the left ventricle to the aorta. DORV encompasses a wide spectrum of anatomic arrangements and pathophysiologic disturbances. At one end of the spectrum, it mimics tetralogy of Fallot in the presence of pulmonary stenosis, or a large ventricular septal defect (VSD) in the absence of such stenosis. At the other end of the spectrum, it behaves like transposition of the great arteries with a VSD. synonym: "DORV" EXACT HP:0045077 [] synonym: "Double-outlet right ventricle" EXACT [] xref: Fyler:600 xref: Fyler:606 xref: MSH:D004310 xref: SNOMEDCT_US:7484005 xref: UMLS:C0013069 is_a: HP:0001710 ! Conotruncal defect is_a: HP:0011723 ! Congenital malformation of the right heart [Term] id: HP:0001722 name: High-output congestive heart failure def: "A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others." [HPO:curators] xref: UMLS:C0742747 is_a: HP:0001635 ! Congestive heart failure [Term] id: HP:0001723 name: Restrictive cardiomyopathy alt_id: HP:0005130 def: "Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness." [HPO:probinson, pmid:17916581] comment: Historically, systolic function was said to be preserved in RCM, but is rare for contractility to be truly normal. Restrictive physiology can occur in patients with end-stage hypertrophic and DCM. xref: MSH:D002313 xref: SNOMEDCT_US:415295002 xref: SNOMEDCT_US:90828009 xref: UMLS:C0007196 is_a: HP:0001638 ! Cardiomyopathy [Term] id: HP:0001724 name: obsolete Aortic dilatation is_obsolete: true replaced_by: HP:0004942 [Term] id: HP:0001726 name: obsolete Increased prevalence of valvular disease is_obsolete: true consider: HP:0001654 [Term] id: HP:0001727 name: Thromboembolic stroke def: "A cerebrovascular accident (stroke) that occurs because of thromboembolism." [HPO:probinson] xref: UMLS:C1112433 is_a: HP:0001907 ! Thromboembolism [Term] id: HP:0001730 name: Progressive hearing impairment alt_id: HP:0008590 def: "A progressive form of hearing impairment." [HPO:probinson] synonym: "Progressive hearing loss" EXACT [] xref: UMLS:C1842138 is_a: HP:0000365 ! Hearing impairment [Term] id: HP:0001732 name: Abnormality of the pancreas def: "An abnormality of the pancreas." [HPO:probinson] synonym: "Abnormality of the pancreas" EXACT layperson [] synonym: "Pancreatic disease" RELATED layperson [] xref: MSH:D010182 xref: SNOMEDCT_US:3855007 xref: UMLS:C0030286 xref: UMLS:C4025751 is_a: HP:0002012 ! Abnormality of the abdominal organs [Term] id: HP:0001733 name: Pancreatitis def: "The presence of inflammation in the pancreas." [HPO:probinson] synonym: "Pancreatic inflammation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D010195 xref: SNOMEDCT_US:75694006 xref: UMLS:C0030305 is_a: HP:0012091 ! Abnormality of pancreas physiology is_a: HP:0012649 ! Increased inflammatory response [Term] id: HP:0001734 name: Annular pancreas def: "A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum." [HPO:probinson] xref: MSH:C536376 xref: SNOMEDCT_US:40315008 xref: UMLS:C0149955 is_a: HP:0012090 ! Abnormal pancreas morphology [Term] id: HP:0001735 name: Acute pancreatitis alt_id: HP:0004512 def: "A acute form of pancreatitis." [HPO:probinson] synonym: "Acute pancreatic inflammation" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Pancreatitis, acute" EXACT [] xref: SNOMEDCT_US:197456007 xref: UMLS:C0001339 is_a: HP:0001733 ! Pancreatitis [Term] id: HP:0001737 name: Pancreatic cysts def: "A cyst of the pancreas that possess a lining of mucous epithelium." [HPO:probinson] comment: Pancreatic cysts are to be distinguished from pancreatic pseudocysts that do not possess a lining of mucous epithelium. synonym: "Multiple pancreatic cysts" RELATED layperson [] synonym: "Pancreatic cyst" RELATED layperson [] synonym: "Pancreatic cysts" EXACT layperson [] xref: MSH:D010181 xref: SNOMEDCT_US:31258000 xref: UMLS:C0030283 xref: UMLS:C1860394 is_a: HP:0012090 ! Abnormal pancreas morphology [Term] id: HP:0001738 name: Exocrine pancreatic insufficiency alt_id: HP:0002581 alt_id: HP:0004508 alt_id: HP:0004509 def: "Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes." [HPO:probinson] synonym: "Inability to properly digest food due to lack of pancreatic digestive enzymes" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Pancreatic insufficiency" RELATED [] xref: MSH:D010188 xref: SNOMEDCT_US:37992001 xref: SNOMEDCT_US:47367009 xref: UMLS:C0030293 xref: UMLS:C0267963 is_a: HP:0012092 ! Abnormality of exocrine pancreas physiology [Term] id: HP:0001739 name: Abnormality of the nasopharynx comment: The nasopharynx (nasal part of the pharynx) lies behind the nose and above the level of the soft palate. xref: UMLS:C4025750 is_a: HP:0000366 ! Abnormality of the nose is_a: HP:0000600 ! Abnormality of the pharynx [Term] id: HP:0001741 name: Phimosis def: "The male foreskin cannot be fully retracted from the head of the penis." [HPO:sdoelken] xref: SNOMEDCT_US:253854008 xref: UMLS:C0345326 is_a: HP:0100587 ! Abnormality of the preputium [Term] id: HP:0001742 name: Nasal obstruction def: "Reduced ability to pass air through the nasal cavity often leading to mouth breathing." [HPO:probinson] synonym: "Blockage of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Congestion of nose" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Nasal blockage" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Nasal congestion" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Nasal obstruction" EXACT layperson [] synonym: "Obstruction of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Stuffy nose" EXACT layperson [http://www.entnet.org/content/stuffy-nose] xref: MSH:D015508 xref: SNOMEDCT_US:232209000 xref: SNOMEDCT_US:267100006 xref: SNOMEDCT_US:68235000 xref: UMLS:C0027424 xref: UMLS:C0027429 is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0001743 name: Abnormality of the spleen def: "An abnormality of the spleen." [HPO:probinson] comment: The spleen is an abdominal organ that functions as a member of the hematopoietic system and of the immune system. synonym: "Abnormality of the spleen" EXACT layperson [] xref: UMLS:C4025749 is_a: HP:0002012 ! Abnormality of the abdominal organs is_a: HP:0100763 ! Abnormality of the lymphatic system [Term] id: HP:0001744 name: Splenomegaly alt_id: HP:0001745 alt_id: HP:0006269 def: "Abnormal increased size of the spleen." [HPO:probinson] synonym: "Increased spleen size" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D013163 xref: SNOMEDCT_US:16294009 xref: UMLS:C0038002 is_a: HP:0003271 ! Visceromegaly is_a: HP:0025408 ! Abnormal spleen morphology [Term] id: HP:0001746 name: Asplenia def: "Absence (aplasia) of the spleen." [HPO:curators] synonym: "Absent spleen" EXACT layperson [ORCID:0000-0001-5208-3432] xref: Fyler:4771 xref: SNOMEDCT_US:702624008 xref: SNOMEDCT_US:707147002 xref: SNOMEDCT_US:93030006 xref: UMLS:C0600031 is_a: HP:0010451 ! Aplasia/Hypoplasia of the spleen [Term] id: HP:0001747 name: Accessory spleen def: "An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance." [HPO:probinson] xref: Fyler:4772 xref: SNOMEDCT_US:10362008 xref: UMLS:C0266631 is_a: HP:0009799 ! Supernumerary spleens [Term] id: HP:0001748 name: Polysplenia alt_id: HP:0001749 alt_id: HP:0006271 alt_id: HP:0006272 def: "Polysplenia is a congenital disease manifested by multiple small accessory spleens." [HPO:curators] synonym: "Accessory spleens" EXACT [] synonym: "Multiple accessory spleens" EXACT [] synonym: "Multiple small spleens" EXACT layperson [ORCID:0000-0002-6548-5200] xref: UMLS:C1856659 is_a: HP:0009799 ! Supernumerary spleens [Term] id: HP:0001750 name: Single ventricle def: "The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle." [MP:0010432] synonym: "Common ventricle" EXACT [ORCID:0000-0001-5208-3432] xref: Fyler:0200 xref: Fyler:200 xref: SNOMEDCT_US:45503006 xref: UMLS:C0152424 is_a: HP:0001713 ! Abnormal cardiac ventricle morphology [Term] id: HP:0001751 name: Vestibular dysfunction alt_id: HP:0006917 alt_id: HP:0007921 def: "An abnormality of the functioning of the vestibular apparatus." [HPO:probinson] comment: The vestibular apparatus is the nonauditory portion of the inner ear that mediates the subjective sensation of motion and spatial orientation of the head, adjusts muscular activity and body position to maintain posture, and stabilizes in space the fixation point of the eyes when the head moves, in order to provide a stable image upon the retina. The functioning of the vestibular system is often checked clinically by means of the caloric test, in which the head is tilted backward by about 60 degrees and either warm or cold water is introduced into the external auditory meatus on one side. The immediate results are usually vertigo, nausea, nystagmus, and twisting of the head and body. synonym: "Impaired vestibular function" EXACT [] synonym: "Interictal vestibular dysfunction" EXACT [] synonym: "Vestibular function defect" EXACT [] xref: UMLS:C1843865 is_a: HP:0011389 ! Functional abnormality of the inner ear [Term] id: HP:0001756 name: Vestibular hypofunction def: "Reduced functioning of the vestibular apparatus." [HPO:probinson] xref: UMLS:C1848606 is_a: HP:0001751 ! Vestibular dysfunction [Term] id: HP:0001757 name: High-frequency sensorineural hearing impairment def: "A form of sensorineural hearing impairment that affects primarily the higher frequencies." [HPO:probinson] synonym: "High frequency sensorineural hearing impairment" EXACT [] synonym: "High-tone sensorineural deafness" EXACT [] synonym: "High-tone sensorineural hearing impairment" EXACT [] xref: UMLS:C4021775 is_a: HP:0000407 ! Sensorineural hearing impairment [Term] id: HP:0001760 name: Abnormality of the foot alt_id: HP:0010216 alt_id: HP:0010611 def: "An abnormality of the skeleton of foot." [HPO:probinson] comment: A disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, congenital vertical talus (rocker bottom foot), and many others. synonym: "Abnormal feet morphology" EXACT layperson [] synonym: "Abnormality of the feet" EXACT layperson [] synonym: "Abnormality of the foot" EXACT layperson [] synonym: "Foot deformities" EXACT layperson [] synonym: "Foot deformity" EXACT layperson [] xref: MSH:D005530 xref: SNOMEDCT_US:229844004 xref: UMLS:C0016506 is_a: HP:0002814 ! Abnormality of the lower limb [Term] id: HP:0001761 name: Pes cavus def: "The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight." [HPO:probinson, pmid:19125433] subset: hposlim_core synonym: "High-arched foot" EXACT layperson [orcid.org/0000-0002-6548-5200] xref: MEDDRA:10034743 "Pes cavus" xref: SNOMEDCT_US:205091006 xref: UMLS:C0728829 is_a: HP:0001760 ! Abnormality of the foot [Term] id: HP:0001762 name: Talipes equinovarus def: "Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg." [HPO:probinson] comment: Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus. subset: hposlim_core synonym: "Club feet" EXACT layperson [] synonym: "Club foot" EXACT layperson [] synonym: "Clubfeet" EXACT layperson [] synonym: "Clubfoot" EXACT layperson [] synonym: "Equinovarus" EXACT [] synonym: "Foot, talipes equinovarus" EXACT [] synonym: "Pes equinovarus" EXACT [] synonym: "Pes equinus" EXACT [] synonym: "Talipes varus" EXACT [https://orcid.org/0000-0001-5208-3432] xref: Fyler:4171 xref: MEDDRA:10043106 "Talipes equinovarus, congenital" xref: MSH:D003025 xref: SNOMEDCT_US:249808002 xref: SNOMEDCT_US:397932003 xref: UMLS:C0009081 is_a: HP:0001883 ! Talipes [Term] id: HP:0001763 name: Pes planus def: "A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced." [HPO:probinson, pmid:19125433] comment: 'has part' some (flat and ('inheres in' some 'Longitudinal arch of foot (adult human)') and ('has modifier' some abnormal)) subset: hposlim_core synonym: "Dropped arches" RELATED layperson [] synonym: "Fallen arches" RELATED layperson [] synonym: "Flat feet" EXACT layperson [] synonym: "Flat foot" EXACT layperson [] xref: MSH:D005413 xref: SNOMEDCT_US:203534009 xref: SNOMEDCT_US:53226007 xref: UMLS:C0016202 xref: UMLS:C0264133 is_a: HP:0001760 ! Abnormality of the foot [Term] id: HP:0001765 name: Hammertoe def: "Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint." [pmid:19125433] subset: hposlim_core synonym: "Hammer toe" EXACT layperson [] synonym: "Hammertoe" EXACT layperson [] synonym: "Hammertoes" EXACT layperson [] xref: MSH:D037801 xref: SNOMEDCT_US:122481008 xref: UMLS:C1136179 is_a: HP:0001780 ! Abnormality of toe [Term] id: HP:0001769 name: Broad foot def: "A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length." [pmid:19125433] subset: hposlim_core synonym: "Broad feet" EXACT layperson [] synonym: "Broad foot" EXACT layperson [] synonym: "Wide foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1866241 is_a: HP:0001760 ! Abnormality of the foot [Term] id: HP:0001770 name: Toe syndactyly alt_id: HP:0001828 alt_id: HP:0005677 def: "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \"Symphalangism\"." [HPO:curators] synonym: "Foot syndactyly" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Fused toes" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Syndactyly of feet" EXACT [] synonym: "Syndactyly of toes" EXACT [] synonym: "Webbed toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:32113001 xref: UMLS:C0265660 is_a: HP:0001159 ! Syndactyly is_a: HP:0001780 ! Abnormality of toe [Term] id: HP:0001771 name: Achilles tendon contracture alt_id: HP:0004711 alt_id: HP:0005031 alt_id: HP:0006430 def: "A contracture of the Achilles tendon." [HPO:probinson] synonym: "Achilles tendon contractures" EXACT [HPO:skoehler] synonym: "Contractures of the Achilles tendon" EXACT [] synonym: "Shortening of the achilles tendon" EXACT layperson [] synonym: "Tight achilles tendon" EXACT layperson [] xref: SNOMEDCT_US:203076007 xref: UMLS:C0410264 is_a: HP:0005109 ! Abnormality of the Achilles tendon is_a: HP:0008366 ! Contractures involving the joints of the feet [Term] id: HP:0001772 name: Talipes equinovalgus def: "A deformity of foot and ankle in which the foot is bent down and outwards." [HPO:probinson] synonym: "Equinovalgus deformity" RELATED [] xref: MSH:D004863 xref: SNOMEDCT_US:68284008 xref: UMLS:C0265642 xref: UMLS:C4020866 is_a: HP:0001883 ! Talipes [Term] id: HP:0001773 name: Short foot alt_id: HP:0001764 alt_id: HP:0001766 alt_id: HP:0001778 alt_id: HP:0008135 def: "A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective)." [HPO:probinson, pmid:19125433] synonym: "Hypoplastic feet" EXACT [] synonym: "Short feet" EXACT layperson [] synonym: "Short foot" EXACT layperson [] synonym: "Small feet" EXACT layperson [] xref: UMLS:C1848673 is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet [Term] id: HP:0001775 name: Tarsal osteovalgus xref: UMLS:C4025748 is_a: HP:0008365 ! Abnormality of the talus [Term] id: HP:0001776 name: Bilateral talipes equinovarus def: "Bilateral clubfoot deformity (see HP:0001762)." [HPO:probinson] synonym: "Bilateral clubfeet" EXACT [] synonym: "Bilateral clubfoot" EXACT [] synonym: "Club foot on both sides" EXACT layperson [] xref: UMLS:C1837835 is_a: HP:0001762 ! Talipes equinovarus [Term] id: HP:0001780 name: Abnormality of toe def: "An anomaly of a toe." [HPO:probinson] subset: hposlim_core synonym: "Abnormalities of the toes" EXACT layperson [] synonym: "Abnormality of toe" EXACT layperson [] xref: UMLS:C2674738 is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0011297 ! Abnormal digit morphology [Term] id: HP:0001782 name: Bulbous tips of toes def: "An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous." [HPO:probinson] xref: UMLS:C4025747 is_a: HP:0001780 ! Abnormality of toe [Term] id: HP:0001783 name: Broad metatarsal alt_id: HP:0005907 alt_id: HP:0008106 def: "Increased side-to-side width of a metatarsal bone." [HPO:probinson] synonym: "Broad metatarsals" RELATED [] synonym: "Wide long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Widened metatarsal shaft" RELATED [] xref: UMLS:C1842231 xref: UMLS:C1850161 is_a: HP:0001832 ! Abnormal metatarsal morphology [Term] id: HP:0001785 name: Ankle swelling synonym: "Ankle swelling" EXACT layperson [] xref: SNOMEDCT_US:26237000 xref: SNOMEDCT_US:267039000 xref: UMLS:C0235439 is_a: HP:0003028 ! Abnormality of the ankles [Term] id: HP:0001786 name: Narrow foot def: "A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length." [pmid:19125433] subset: hposlim_core synonym: "Narrow foot" EXACT layperson [] synonym: "Slender feet" EXACT layperson [] xref: SNOMEDCT_US:299464006 xref: UMLS:C0576227 is_a: HP:0001760 ! Abnormality of the foot [Term] id: HP:0001787 name: Abnormal delivery def: "An abnormality of the birth process." [HPO:probinson] synonym: "Abnormal delivery" EXACT layperson [] synonym: "Delivery complication" EXACT layperson [] xref: SNOMEDCT_US:274127000 xref: UMLS:C0549629 is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0001788 name: Premature rupture of membranes alt_id: HP:0002163 def: "Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor." [HPO:probinson] xref: MSH:D005322 xref: SNOMEDCT_US:237266003 xref: SNOMEDCT_US:44223004 xref: UMLS:C0015944 is_a: HP:0001787 ! Abnormal delivery [Term] id: HP:0001789 name: Hydrops fetalis def: "The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema." [HPO:probinson] comment: The most common causes of hydrops fetalis are hematologic (inclusing isoimmunization because of Rhesus incompatibility and other causes), hereditary hemolytic disorders, fetal hemorrhage, disorders of red cell production), cardiovascular disorders, infections, certain intrathoracic malformations, and idiopathic forms. xref: MSH:D015160 xref: SNOMEDCT_US:276508000 xref: UMLS:C0020305 is_a: HP:0000969 ! Edema is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0001790 name: Nonimmune hydrops fetalis def: "A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens ." [HPO:probinson] synonym: "Hydrops fetalis, non-immune" EXACT [] synonym: "Hydrops fetalis, nonimmune" EXACT [] synonym: "Non-immune fetal hydrops" EXACT [] synonym: "Nonimmune hydrops" EXACT [] xref: MSH:D015160 xref: SNOMEDCT_US:206538000 xref: SNOMEDCT_US:276509008 xref: UMLS:C0455988 is_a: HP:0001789 ! Hydrops fetalis [Term] id: HP:0001791 name: Fetal ascites def: "Accumulation of fluid in the peritoneal cavity during the fetal period." [HPO:probinson] xref: SNOMEDCT_US:363125002 xref: UMLS:C1285291 is_a: HP:0001197 ! Abnormality of prenatal development or birth is_a: HP:0001541 ! Ascites [Term] id: HP:0001792 name: Small nail alt_id: HP:0001813 def: "A nail that is diminished in length and width, i.e., underdeveloped nail." [HPO:probinson, pmid:19125433] synonym: "Hypoplastic nail" EXACT [] synonym: "Hypoplastic nails" EXACT [] synonym: "Nail hypoplasia" EXACT [] synonym: "Small nail" EXACT layperson [] synonym: "Small nails" EXACT layperson [] xref: SNOMEDCT_US:11375002 xref: UMLS:C0263523 is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails [Term] id: HP:0001795 name: Hyperconvex nail alt_id: HP:0008413 def: "When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity." [HPO:probinson, pmid:19125433] comment: No objective standards were identified for this finding. Another way to describe this finding is to say that the observed curve has a smaller radius than does the typical nail. The affected digits should be specified. subset: hposlim_core synonym: "Increased nail curvature" EXACT layperson [] synonym: "Nail overcurvature" EXACT layperson [] xref: SNOMEDCT_US:247487009 xref: UMLS:C0423807 is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0001798 name: Anonychia alt_id: HP:0007593 alt_id: HP:0008384 def: "Aplasia of the nail." [HPO:probinson] comment: Total absence of nails. subset: hposlim_core synonym: "Absent nails" EXACT layperson [] synonym: "Aplastic nails" EXACT layperson [] xref: MSH:C536377 xref: SNOMEDCT_US:23610003 xref: UMLS:C0265998 is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails [Term] id: HP:0001799 name: Short nail alt_id: HP:0200075 def: "Decreased length of nail." [pmid:19125433] comment: Use this designation when the length is reduced but the width is normal. subset: hposlim_core synonym: "Short nail" EXACT layperson [] synonym: "Short nails" EXACT layperson [HPO:skoehler] xref: SNOMEDCT_US:247488004 xref: UMLS:C0423808 is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails [Term] id: HP:0001800 name: Hypoplastic toenails def: "Underdevelopment of the toenail." [HPO:probinson] synonym: "Underdeveloped toenails" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1837279 is_a: HP:0001792 ! Small nail is_a: HP:0010624 ! Aplastic/hypoplastic toenail [Term] id: HP:0001802 name: Absent toenail def: "Congenital absence of the toenail." [HPO:probinson] subset: hposlim_core synonym: "Absent toenail" EXACT layperson [] synonym: "Absent toenails" RELATED layperson [] synonym: "Absent toenails (anonychia)" RELATED [HPO:skoehler] synonym: "Anonychia of toenails" RELATED [HPO:skoehler] xref: UMLS:C1844555 is_a: HP:0001798 ! Anonychia is_a: HP:0010624 ! Aplastic/hypoplastic toenail [Term] id: HP:0001803 name: Nail pits def: "Small (typically about 1 mm or less in size) depressions on the dorsal nail surface." [pmid:19125433] subset: secondary_consequence synonym: "Nail pits" EXACT layperson [] synonym: "Nail pitting" EXACT layperson [] synonym: "Pitted nails" EXACT layperson [] xref: MEDDRA:10028702 "Nail pitting" xref: SNOMEDCT_US:89704006 xref: UMLS:C0150993 is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0001804 name: Hypoplastic fingernail def: "Underdevelopment of a fingernail." [HPO:curators] synonym: "Small fingernail" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Underdeveloped fingernail" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1856786 is_a: HP:0001231 ! Abnormal fingernail morphology is_a: HP:0001792 ! Small nail [Term] id: HP:0001805 name: Onychogryposis alt_id: HP:0001819 alt_id: HP:0200088 def: "Nail that appears thick when viewed on end." [pmid:19125433] comment: There is a build up of keratin causing the nail plate to lift away from the nail bed. The thickened nail plate is usually very hard. Onychauxis and onychogryposis are dystrophic diseases of the nail in which the nail plate becomes decidedly hypertrophied. The differentiation of the two entities is only one of degree of severity. synonym: "Dystrophic thickened nails" EXACT [] synonym: "Thick nail" EXACT layperson [] synonym: "Thickened nails" EXACT layperson [] xref: SNOMEDCT_US:52897009 xref: UMLS:C0263537 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001806 name: Onycholysis def: "Detachment of the nail from the nail bed." [HPO:probinson] subset: hposlim_core synonym: "Detachment of nail" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Oncholysis" EXACT [] xref: MEDDRA:10030337 "Onycholysis" xref: MSH:D054039 xref: SNOMEDCT_US:75789001 xref: UMLS:C0085661 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001807 name: Ridged nail alt_id: HP:0001801 alt_id: HP:0001811 def: "Longitudinal, linear prominences in the nail plate." [pmid:19125433] comment: There may be only one, or several ridges. The affected digits should be specified. subset: hposlim_core synonym: "Grooved nails" EXACT layperson [] synonym: "Longitudinal ridging" EXACT [] synonym: "Nail ridging" EXACT layperson [] synonym: "Ridged nails" RELATED layperson [HPO:skoehler] xref: SNOMEDCT_US:271768001 xref: UMLS:C0423820 is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0001808 name: Fragile nails alt_id: HP:0001796 def: "Nails that easily break." [HPO:probinson] synonym: "Brittle nails" EXACT layperson [] xref: UMLS:C1856963 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001809 name: Split nail def: "A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature." [pmid:19125433] comment: This is distinct from Fused nail, where the two parts of the nail have a separate radius of curvature. The affected digits should be specified as described in the introductory comments. synonym: "Longitudinal splitting of nail" EXACT layperson [] xref: SNOMEDCT_US:85136002 xref: UMLS:C0263530 is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0001810 name: Dystrophic toenail alt_id: HP:0007558 def: "Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate." [HPO:probinson] synonym: "Dystrophic toenail changes" EXACT [] synonym: "Dystrophic toenails" RELATED [] synonym: "Poor toenail formation" EXACT layperson [http://naildystrophy.com/, ORCID:0000-0001-5208-3432] xref: UMLS:C1833225 is_a: HP:0008388 ! Abnormal toenail morphology is_a: HP:0008404 ! Nail dystrophy [Term] id: HP:0001812 name: Hyperconvex fingernails alt_id: HP:0008380 def: "When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity." [HPO:probinson, pmid:19125433] synonym: "Tubular fingernails" EXACT [] xref: UMLS:C1844825 is_a: HP:0001795 ! Hyperconvex nail [Term] id: HP:0001814 name: Deep-set nails def: "Deeply placed nails." [HPO:probinson] synonym: "Deep-set nails" EXACT layperson [] xref: UMLS:C3277753 is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0001816 name: Thin nail def: "Nail that appears thin when viewed on end." [HPO:probinson, pmid:19125433] comment: No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males. Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it indicates also other characteristics than thin nails, it should not be used to indicate this. The affected digits should be specified. subset: hposlim_core synonym: "Thin nail" EXACT layperson [] synonym: "Thin nails" EXACT layperson [] xref: SNOMEDCT_US:63829008 xref: UMLS:C0423823 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001817 name: Absent fingernail def: "Absence of a fingernail." [HPO:probinson] subset: hposlim_core synonym: "Absent fingernail" EXACT layperson [] synonym: "Anonychia of fingernails" RELATED [HPO:skoehler] synonym: "Aplasia of the fingernail" EXACT [] xref: UMLS:C1844554 is_a: HP:0001798 ! Anonychia [Term] id: HP:0001818 name: Paronychia def: "The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia)." [HPO:probinson] subset: hposlim_core xref: MEDDRA:10034016 "Paronychia" xref: MSH:D010304 xref: SNOMEDCT_US:71906005 xref: UMLS:C0030578 is_a: HP:0100803 ! Abnormality of the periungual region [Term] id: HP:0001820 name: Leukonychia def: "White discoloration of the nails." [HPO:probinson] synonym: "White discoloration of nails" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MEDDRA:10050658 "Leukonychia" xref: SNOMEDCT_US:111202002 xref: UMLS:C0240182 is_a: HP:0100643 ! Abnormality of nail color [Term] id: HP:0001821 name: Broad nail alt_id: HP:0008406 def: "Increased width of nail." [HPO:probinson] synonym: "Broad fingernails" EXACT layperson [] synonym: "Broad nail" EXACT layperson [] synonym: "Wide fingernails" EXACT layperson [] xref: UMLS:C1843112 is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0001822 name: Hallux valgus alt_id: HP:0004682 def: "Lateral deviation of the great toe (i.e., in the direction of the little toe)." [HPO:curators] synonym: "Bunion" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Lateral deviation of great toe" EXACT [] synonym: "Lateral deviation of halluces" EXACT [] xref: MSH:D000071378 xref: MSH:D006215 xref: SNOMEDCT_US:122480009 xref: SNOMEDCT_US:415692008 xref: UMLS:C0006386 xref: UMLS:C0018536 is_a: HP:0010051 ! Deviation of the hallux [Term] id: HP:0001824 name: Weight loss def: "Reduction inexisting body weight." [HPO:probinson] xref: MSH:D015431 xref: SNOMEDCT_US:161832001 xref: SNOMEDCT_US:262285001 xref: SNOMEDCT_US:89362005 xref: UMLS:C1262477 is_a: HP:0004325 ! Decreased body weight [Term] id: HP:0001827 name: Genital tract atresia alt_id: HP:0001534 def: "Congenital occlusion of a tube in the genital tract." [HPO:probinson] xref: UMLS:C4025746 is_a: HP:0012243 ! Abnormal reproductive system morphology created_by: peter creation_date: 2008-02-27T04:08:00Z [Term] id: HP:0001829 name: Foot polydactyly alt_id: HP:0009135 def: "A kind of polydactyly characterized by the presence of a supernumerary toe or toes." [HPO:probinson] subset: hposlim_core synonym: "Duplication of bones of the toes" EXACT layperson [] synonym: "Polydactyly of feet" EXACT [] synonym: "Polydactyly of the foot" EXACT [] xref: SNOMEDCT_US:62218008 xref: UMLS:C0158734 is_a: HP:0001780 ! Abnormality of toe is_a: HP:0009136 ! Duplication involving bones of the feet is_a: HP:0010442 ! Polydactyly [Term] id: HP:0001830 name: Postaxial foot polydactyly alt_id: HP:0010346 def: "Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit." [HPO:curators] comment: The modifier postaxial means that the supernumerary digit is not a hallux. synonym: "Extra toe attached near the little toe" EXACT layperson [orcid.org/0000-0002-6548-5200] synonym: "Fibular polydactyly" RELATED [] synonym: "Polydactyly affecting the 5th toe" EXACT [] synonym: "Postaxial polydactyly of feet" EXACT [] synonym: "Postaxial polydactyly of foot" EXACT [] synonym: "Posterior polydactyly of foot" EXACT [] xref: UMLS:C2112129 xref: UMLS:C4020865 is_a: HP:0001829 ! Foot polydactyly is_a: HP:0010322 ! Abnormality of the 5th toe is_a: HP:0100259 ! Postaxial polydactyly [Term] id: HP:0001831 name: Short toe alt_id: HP:0001767 alt_id: HP:0001781 alt_id: HP:0001855 alt_id: HP:0004701 alt_id: HP:0005889 alt_id: HP:0008099 def: "A toe that appears disproportionately short compared to the foot." [HPO:probinson] comment: This finding must be distinguished from digits that are of increased girth but of normal length and that of a long mid- and hind foot with normal digit lengths. The affected digits should be specified as described in the introductory comments. Note that we designate brachydactyly as a synonym, but this use of the term is distinct from the use of the same word in Bell's classification of brachdactyly. subset: hposlim_core synonym: "Brachydactyly of the foot" EXACT [] synonym: "Hypoplasia of the toe" EXACT [] synonym: "Hypoplastic toes" EXACT [] synonym: "Short foot phalanges" EXACT [] synonym: "Short toe" EXACT layperson [] synonym: "Short toes" EXACT layperson [] synonym: "Stubby toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1836195 is_a: HP:0001991 ! Aplasia/Hypoplasia of toe is_a: HP:0011927 ! Short digit [Term] id: HP:0001832 name: Abnormal metatarsal morphology def: "Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes)." [HPO:probinson] synonym: "Abnormality of the long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025745 is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0040069 ! Abnormal lower limb bone morphology [Term] id: HP:0001833 name: Long foot alt_id: HP:0008136 alt_id: HP:0008143 def: "Increased back to front length of the foot." [UHPO:probinson] subset: hposlim_core synonym: "Disproportionately large feet" EXACT layperson [] synonym: "large feet" EXACT layperson [] synonym: "long feet" EXACT layperson [] synonym: "Long foot" EXACT layperson [] xref: SNOMEDCT_US:299462005 xref: UMLS:C0576225 is_a: HP:0001760 ! Abnormality of the foot [Term] id: HP:0001836 name: Camptodactyly of toe def: "Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes." [HPO:probinson] synonym: "Camptodactyly of feet" EXACT [] xref: UMLS:C4021774 is_a: HP:0005830 ! Flexion contracture of toe is_a: HP:0012385 ! Camptodactyly [Term] id: HP:0001837 name: Broad toe def: "Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension." [pmid:19125433] comment: Note that the girth may be increased in a broad toe, but this must be distinguished from Macrodactyly because in Macrodactyly the length is increased as well. The affected digit should be specified. Note that this assessment may be difficult when the toes are short. This term is not used for the first digit, see Broad hallux. If all five digits are broad, both terms should be used for that patient. subset: hposlim_core synonym: "Broad toe" EXACT layperson [] synonym: "Wide toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1865038 is_a: HP:0001780 ! Abnormality of toe [Term] id: HP:0001838 name: Rocker bottom foot alt_id: HP:0001835 alt_id: HP:0004693 alt_id: HP:0010218 def: "The presence of both a prominent heel and a convex contour of the sole." [HPO:probinson, pmid:19125433] comment: Congenital vertical talus is characterized by pes valgus, a rigid flatfoot deformity (as opposed to a flexible calcaneovalgus foot) caused by a malpositioned navicular bone at the neck of the talus; the ankle is in severe equinus and the forefoot in dorsiflexion, rocker bottom-like, accompanied by contraction of the talonavicular, deltoid and calcaneal cuboidal ligaments. The foot examination usually reveals a rigid foot with a "reversed" arch, a convex plantar surface, and a deep crease on the lateral dorsal side of the foot. The ankle joint is plantarflexed, while the midfoot and forefoot are extended upward. Lateral foot radiographs are helpful in confirming the diagnosis. subset: hposlim_core synonym: "Congenital vertical talus" EXACT [] synonym: "Rocker bottom feet" EXACT layperson [] synonym: "Rocker bottom foot" EXACT layperson [] synonym: "Rocker-bottom feet" EXACT layperson [] synonym: "Rockerbottom feet" EXACT layperson [] xref: MEDDRA:10066242 "Vertical talus" xref: MSH:C536345 xref: MSH:D005413 xref: SNOMEDCT_US:205082007 xref: SNOMEDCT_US:205359003 xref: UMLS:C0240912 is_a: HP:0008365 ! Abnormality of the talus [Term] id: HP:0001839 name: Split foot alt_id: HP:0003062 alt_id: HP:0005904 def: "A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet." [HPO:sdoelken] subset: hposlim_core synonym: "Foot ectrodactyly" EXACT [] synonym: "Lobster-claw foot deformity" EXACT layperson [] synonym: "Split foot" EXACT layperson [] synonym: "Split-foot" EXACT layperson [] xref: SNOMEDCT_US:205358006 xref: UMLS:C0432028 is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0100257 ! Ectrodactyly [Term] id: HP:0001840 name: Metatarsus adductus alt_id: HP:0001768 alt_id: HP:0010217 def: "The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body." [HPO:probinson, pmid:19125433] comment: Metatarsus varus (adductus) is one of the most common foot deformities, that is defined as a transverse plane deformity in Lisfranc's (tarsometatarsal) joints in which the metatarsals are deviated medially. The relationship between talus and calcaneus is normal. On inspection the toes angle abruptly towards the midline, creating a C-shaped lateral foot border with a prominent styloid process of the 5th metatarsal. The result is that the forefoot is twisted inwards relative to the heel, so that the sole faces the midline. subset: hposlim_core synonym: "Forefoot varus" EXACT [] synonym: "Front half of foot turns inward" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Intoe" RELATED [] synonym: "Metatarsus adductovarsus" EXACT [] synonym: "Metatarsus varus" EXACT [] xref: MSH:D000070592 xref: SNOMEDCT_US:77599005 xref: UMLS:C0231791 xref: UMLS:C4082169 is_a: HP:0001832 ! Abnormal metatarsal morphology [Term] id: HP:0001841 name: Preaxial foot polydactyly alt_id: HP:0009607 alt_id: HP:0010050 def: "Duplication of all or part of the first ray." [HPO:probinson, pmid:19125433] comment: This term applies for a wide variety of partial and/or complete duplications of the phalanges of the big toe (sometimes including the 1st metatarsal). A partial duplication can present itself on x-rays as a notched phalanx, bifid phalanx or a broadened phalanx. Polydactyly affecting the big toe is called preaxial or hallucal polydactyly of the feet. synonym: "Partial/complete duplication of the phalanges of the big toe" EXACT [HPO:curators] synonym: "Polydactyly affecting the hallux" EXACT [] synonym: "Preaxial hallucal polydactyly" EXACT [] synonym: "Preaxial polydactyly of feet" EXACT [] synonym: "Preaxial polydactyly of foot" EXACT [] synonym: "Preaxial polydactyly of the feet" EXACT [HPO:curators] synonym: "Preaxial polydactyly, feet" EXACT [] xref: MSH:C566632 xref: UMLS:C1866339 xref: UMLS:C2112942 is_a: HP:0001829 ! Foot polydactyly is_a: HP:0001844 ! Abnormality of the hallux is_a: HP:0100258 ! Preaxial polydactyly [Term] id: HP:0001842 name: Foot acroosteolysis synonym: "Acroosteolysis of feet" EXACT [] xref: UMLS:C4025744 is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes [Term] id: HP:0001844 name: Abnormality of the hallux def: "This term applies for all abnormalities of the big toe, also called hallux." [HPO:probinson] subset: hposlim_core synonym: "Abnormalities of the hallux" EXACT [] synonym: "Abnormality of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021773 is_a: HP:0001780 ! Abnormality of toe [Term] id: HP:0001845 name: Overlapping toe def: "Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest." [HPO:probinson, pmid:19125433] comment: This descriptor is ordered depending on which toes are involved. The overriding toe is labeled, as specified in the introduction (item 3): e.g., T3,4. The ordering of the numbers specifies which toe is dorsal, i.e., with dorsum of the foot facing upward the toe on top is/are recorded first separated by a comma from the digit that is/are overlapped. Toes that are laterally deviated, but do not rest on top of adjacent toes should be coded as Clinodactyly. subset: hposlim_core synonym: "Crossover toe" RELATED layperson [] synonym: "Overlapping toe" EXACT layperson [] synonym: "Overlapping toes" EXACT layperson [HPO:skoehler] synonym: "Overriding toes" EXACT layperson [] xref: SNOMEDCT_US:203541003 xref: UMLS:C0920299 is_a: HP:0001780 ! Abnormality of toe [Term] id: HP:0001847 name: Long hallux alt_id: HP:0001867 def: "Increased length of the big toe." [HPO:probinson] subset: hposlim_core synonym: "Increased length of the hallux" EXACT [] synonym: "Large halluces" EXACT [] synonym: "Long big toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Long halluces" EXACT [] xref: UMLS:C1864375 is_a: HP:0001844 ! Abnormality of the hallux is_a: HP:0010511 ! Long toe [Term] id: HP:0001848 name: Calcaneovalgus deformity alt_id: HP:0001774 alt_id: HP:0008120 def: "This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus)." [HPO:probinson] comment: Calcaneovalgus deformity may be related to abnormal positioning of the foot in utero and can resolve spontaneously after birth. synonym: "Calcaneovalgus" EXACT [] synonym: "Calcaneovalgus Foot" EXACT [] synonym: "Foot and ankle bend up toward shin of leg" BROAD layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Valgus position of the calcaneus" EXACT [] xref: UMLS:C1860450 is_a: HP:0008119 ! Deformed tarsal bones is_a: HP:0008364 ! Abnormality of the calcaneus [Term] id: HP:0001849 name: Foot oligodactyly alt_id: HP:0001777 def: "A developmental defect resulting in the presence of fewer than the normal number of toes." [HPO:probinson] subset: hposlim_core synonym: "Missing toes" EXACT layperson [] synonym: "Oligodactyly of feet" EXACT [] xref: SNOMEDCT_US:249820005 xref: UMLS:C0426934 is_a: HP:0010760 ! Absent toe is_a: HP:0012165 ! Oligodactyly [Term] id: HP:0001850 name: Abnormality of the tarsal bones def: "An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone." [HPO:curators] synonym: "Abnormal ankle bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormal tarsals" EXACT [] xref: UMLS:C1862136 is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0040069 ! Abnormal lower limb bone morphology [Term] id: HP:0001852 name: Sandal gap def: "A widely spaced gap between the first toe (the great toe) and the second toe." [HPO:probinson, pmid:19125433] subset: hposlim_core synonym: "Gap between 1st and 2nd toes" EXACT layperson [] synonym: "Gap between first and second toe" EXACT layperson [] synonym: "Increased space between first and second toes" EXACT layperson [] synonym: "Sandal gap between first and second toes" EXACT layperson [] synonym: "Space between great toe and second toe" EXACT [] synonym: "Wide space between 1st, 2nd toes" EXACT layperson [] synonym: "Wide space between first and second toes" EXACT layperson [] synonym: "Wide-spaced big toe" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Widely spaced 1st-2nd toes" EXACT layperson [] synonym: "Widely spaced first and second toes" EXACT layperson [] synonym: "Widened gap 1st-2nd toes" EXACT layperson [] synonym: "Widened gap first and second toe" EXACT layperson [] xref: UMLS:C1840069 is_a: HP:0001780 ! Abnormality of toe [Term] id: HP:0001853 name: Bifid distal phalanx of toe alt_id: HP:0005615 synonym: "Bifid distal phalanges of toes" EXACT [] synonym: "Bifid terminal phalanx of toe" EXACT [] synonym: "Notched outermost bones of toes" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4021772 is_a: HP:0009136 ! Duplication involving bones of the feet [Term] id: HP:0001854 name: Podagra def: "Gout affecting the Metatarsophalangeal joint of big toe." [HPO:sdoelken] synonym: "Gout of big toe" EXACT [] xref: SNOMEDCT_US:67148009 xref: UMLS:C0221168 is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0001997 ! Gout [Term] id: HP:0001857 name: Short distal phalanx of toe def: "Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe." [pmid:19125433] comment: This term differs from Partial absence of the toe because in that term the phalanx must be missing, whereas here it may be small, but present. Relative shortening of the distal phalanges of the toes can be harder to assess than in the fingers, as they are normally quite short. Distal phalangeal lengths can be assessed subjectively by comparing that digit segment to the rest of the digit, to other normal digits in that patient, or to typical patients of that age or build. synonym: "Hypoplastic distal phalanges of feet" EXACT [] synonym: "Short outermost bone of toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021771 is_a: HP:0005035 ! Shortening of all phalanges of the toes is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes [Term] id: HP:0001859 name: Distal foot symphalangism alt_id: HP:0100236 xref: UMLS:C4025743 is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0100235 ! Synostosis involving bones of the toes is_a: HP:0100263 ! Distal symphalangism [Term] id: HP:0001862 name: obsolete Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) is_obsolete: true replaced_by: HP:0006121 [Term] id: HP:0001863 name: Toe clinodactyly def: "Bending or curvature of a toe in the tibial direction (i.e., towards the big toe)." [HPO:probinson] synonym: "Clinodactyly of feet" EXACT [] synonym: "Toe curvature" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021770 xref: UMLS:C4280587 is_a: HP:0030084 ! Clinodactyly is_a: HP:0100498 ! Deviation of toes [Term] id: HP:0001864 name: Clinodactyly of the 5th toe def: "Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe)." [HPO:probinson] synonym: "Curvature of the little toe" BROAD [ORCID:0000-0001-5208-3432] synonym: "Curvature of the pinkie toe" BROAD [ORCID:0000-0001-5208-3432] synonym: "Curvature of the pinky toe" BROAD [ORCID:0000-0001-5208-3432] xref: UMLS:C4025741 xref: UMLS:C4280586 is_a: HP:0001863 ! Toe clinodactyly is_a: HP:0010344 ! Deviation of the 5th toe [Term] id: HP:0001868 name: Autoamputation of foot def: "Spontaneous detachment of a foot from the body." [HPO:probinson] xref: UMLS:C4025740 is_a: HP:0001218 ! Autoamputation is_a: HP:0001760 ! Abnormality of the foot [Term] id: HP:0001869 name: Deep plantar creases def: "The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot." [HPO:probinson] synonym: "Deep wrinkles in soles of feet" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1857953 is_a: HP:0100872 ! Abnormality of the plantar skin of foot [Term] id: HP:0001870 name: Acroosteolysis of distal phalanges (feet) synonym: "Acroosteolysis of distal phalanges of feet" EXACT [] xref: UMLS:C4025739 is_a: HP:0001842 ! Foot acroosteolysis is_a: HP:0010189 ! Osteolytic defects of the distal phalanges of the toes [Term] id: HP:0001871 name: Abnormality of blood and blood-forming tissues alt_id: HP:0003135 def: "An abnormality of the hematopoietic system." [HPO:probinson] comment: The hematopoietic system comprises the organs that are involved in the production of blood, primarily the bone marrow, spleen, tonsils, and lymph nodes. synonym: "Abnormality of blood and blood-forming tissues" EXACT layperson [] synonym: "Abnormality of the haematopoietic system" RELATED [] synonym: "Abnormality of the hematopoietic system" EXACT [] synonym: "Hematologic disease" RELATED [] synonym: "Hematological abnormality" EXACT [] xref: MSH:D006402 xref: SNOMEDCT_US:191124002 xref: SNOMEDCT_US:34093004 xref: UMLS:C0018939 xref: UMLS:C0850715 xref: UMLS:C4020864 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001872 name: Abnormal thrombocyte morphology alt_id: HP:0004807 alt_id: HP:0005554 def: "An abnormality of platelets." [HPO:probinson] comment: Platelets, also known as thrombocytes, are non-nucleated disk-shaped cells mainly involved in blood coagulation. synonym: "Blood platelet disease" RELATED [] synonym: "Platelet abnormalities" EXACT layperson [] synonym: "Thrombasthenia" RELATED [] xref: MSH:D013915 xref: SNOMEDCT_US:127566005 xref: SNOMEDCT_US:32942005 xref: UMLS:C0040015 xref: UMLS:C0151854 xref: UMLS:C4020863 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues [Term] id: HP:0001873 name: Thrombocytopenia alt_id: HP:0001906 alt_id: HP:0004838 alt_id: HP:0008175 alt_id: HP:0008268 alt_id: HP:0008302 def: "A reduction in the number of circulating thrombocytes." [HPO:probinson] comment: Thrombocytopenia can be divided into three major causes; 1) low production of platelets in the bone marrow; 2) intravascular breakdown of thrombocytes; and 3) increased turnover of platelets in spleen or liver (extravascular). synonym: "Low platelet count" EXACT layperson [] xref: MSH:D013921 xref: SNOMEDCT_US:302215000 xref: SNOMEDCT_US:415116008 xref: UMLS:C0040034 xref: UMLS:C0392386 is_a: HP:0011873 ! Abnormal platelet count [Term] id: HP:0001874 name: Abnormality of neutrophils def: "A neutrophil abnormality." [HPO:probinson, PMID:21094463, PMID:26819959] comment: Neutrophils are the most abundant leukocytes in blood and are considered to be the first line of defense during inflammation and infections. They are myeloid granulocytes and their names is derived from the fact that their cytoplasm contains granules that stain with acidic dye as well as granules that stain with basic dye. Their nuclei consist of three to five lobes connected by slender threads of chromatin. Mature neutrophils live for approximately one day. synonym: "Abnormality of neutrophils" EXACT layperson [] synonym: "Abnormality of polymorphonuclear neutrophils" EXACT [] xref: SNOMEDCT_US:250274006 xref: UMLS:C0427515 is_a: HP:0001911 ! Abnormal granulocyte morphology [Term] id: HP:0001875 name: Neutropenia alt_id: HP:0005515 alt_id: HP:0005533 def: "An abnormally low number of neutrophils in the peripheral blood." [HPO:probinson, PMID:25642312] comment: Mild neutropenia is defined as an absolute neutrophil count of less than 1500 cells per microliter of blood, moderate less than 1000 cells per microliter of blood and, and severe is less than 500 cells per microliter of blood. synonym: "Low blood neutrophil count" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Low neutrophil count" EXACT layperson [] synonym: "Peripheral neutropenia" EXACT [] xref: SNOMEDCT_US:165517008 xref: UMLS:C0853697 is_a: HP:0011991 ! Abnormal neutrophil count [Term] id: HP:0001876 name: Pancytopenia def: "An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets)." [HPO:probinson] synonym: "Low blood cell count" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D010198 xref: SNOMEDCT_US:127034005 xref: UMLS:C0030312 is_a: HP:0012145 ! Abnormality of multiple cell lineages in the bone marrow [Term] id: HP:0001877 name: Abnormal erythrocyte morphology alt_id: HP:0010973 def: "Any structural abnormality of erythrocytes (red-blood cells)." [HPO:probinson] synonym: "Abnormality of erythrocytes" EXACT [] synonym: "Abnormality of erythroid lineage cell" RELATED [] synonym: "Abnormality of red blood cells" EXACT [] xref: SNOMEDCT_US:12222001 xref: UMLS:C0391870 xref: UMLS:C4020862 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues [Term] id: HP:0001878 name: Hemolytic anemia alt_id: HP:0001910 alt_id: HP:0004827 alt_id: HP:0004853 alt_id: HP:0004868 alt_id: HP:0005503 def: "A type of anemia caused by premature destruction of red blood cells (hemolysis)." [HPO:probinson] comment: Normally, erythrocytes survive on average about 110-120 days. With hemolysis, the erythrocyte survival is shortened, and generally increased marrow activity results in a reticulocyte count. synonym: "Haemolytic anaemia" EXACT [] synonym: "Increased hemolysis" EXACT [] xref: MSH:D000743 xref: SNOMEDCT_US:61261009 xref: UMLS:C0002878 is_a: HP:0011895 ! Anemia due to reduced life span of red cells [Term] id: HP:0001879 name: Abnormal eosinophil morphology def: "An abnormal count or structure of eosinophils." [HPO:probinson, PMID:23154224] comment: Eosinophils stain with acidophilic dyes including eosin red. They have a bilobed nucleus, are weakly phagocytic, and are involved in the immune defense against worms. Eosinophils are released into the peripheral blood in a phenotypically mature state, and are capable of undergoing activation and recruitment into tissues in response to appropriate stimuli, most notably cytokines interleukin-5 and the eotaxins. Eosinophils spend only a brief time in the peripheral blood (half-life of about 18 hours) before they migrate to the thymus or gastrointestinal tract, where they reside under homeostatic conditions. In response to inflammatory stimuli, eosinophils develop from committed bone marrow progenitors, after which they exit, migrate into the blood and subsequently accumulate in peripheral tissues where survival is prolonged. synonym: "Abnormality of eosinophils" EXACT [] xref: UMLS:C4025738 is_a: HP:0001911 ! Abnormal granulocyte morphology [Term] id: HP:0001880 name: Eosinophilia def: "Increased count of eosinophils in the blood." [HPO:sdoelken] synonym: "High blood eosinophil count" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D004802 xref: UMLS:C0014457 is_a: HP:0001974 ! Leukocytosis is_a: HP:0020064 ! Abnormal eosinophil count [Term] id: HP:0001881 name: Abnormal leukocyte morphology def: "An abnormality of leukocytes." [HPO:probinson] comment: Leukocytes are nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue. synonym: "Abnormal leukocyte function" EXACT [] synonym: "Abnormality of leukocytes" EXACT [] xref: SNOMEDCT_US:134199001 xref: SNOMEDCT_US:24827003 xref: UMLS:C0152009 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues is_a: HP:0010987 ! Abnormal cellular immune system morphology [Term] id: HP:0001882 name: Leukopenia def: "An abnormal decreased number of leukocytes in the blood." [HPO:probinson] synonym: "Decreased blood leukocyte number" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Low white blood cell count" EXACT layperson [] xref: MSH:D007970 xref: SNOMEDCT_US:84828003 xref: UMLS:C0023530 is_a: HP:0011893 ! Abnormal leukocyte count [Term] id: HP:0001883 name: Talipes def: "A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus." [HPO:sdoelken] comment: Talipes means (a deformity of) foot and ankle. There are four types of talipes.\n1) Talipes equinovarus - the foot is pointing inwards and down (the most common form)\n2) Talipes equinovalgus - where the foot points outwards and down\n3) Talipes calcaneovarus - where the foot points inwards and up\n4) Talipes calcaneovalgus - where the foot points inwards and down. synonym: "Talipes foot deformities" RELATED [HPO:skoehler] xref: MSH:D000070558 xref: SNOMEDCT_US:398309008 xref: UMLS:C1301937 xref: UMLS:C3552713 is_a: HP:0005656 ! Positional foot deformity [Term] id: HP:0001884 name: Talipes calcaneovalgus def: "Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an \"up and out\" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg." [HPO:curators] synonym: "Pes calcaneovarus" EXACT [] xref: MSH:D005413 xref: SNOMEDCT_US:205083002 xref: SNOMEDCT_US:31668003 xref: UMLS:C0152237 is_a: HP:0001883 ! Talipes [Term] id: HP:0001885 name: Short 2nd toe def: "Underdevelopment (hypoplasia) of the second toe." [HPO:probinson] synonym: "Short second toe" EXACT layperson [] xref: UMLS:C4021769 is_a: HP:0001831 ! Short toe [Term] id: HP:0001886 name: Foot osteomyelitis def: "An infection of bone of the foot." [] synonym: "Foot bone infection" EXACT layperson [] xref: UMLS:C4025737 is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0002754 ! Osteomyelitis [Term] id: HP:0001888 name: Lymphopenia def: "A reduced number of lymphocytes in the blood." [HPO:probinson] synonym: "Absolute lymphocyte count decrease" EXACT [] synonym: "Decreased blood lymphocyte number" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Low lymphocyte number" EXACT layperson [ORCID:0000-0001-7941-2961] synonym: "Lymphocytopenia" EXACT [] xref: MSH:D008231 xref: SNOMEDCT_US:48813009 xref: UMLS:C0024312 is_a: HP:0001882 ! Leukopenia is_a: HP:0040088 ! Abnormal lymphocyte count [Term] id: HP:0001889 name: Megaloblastic anemia alt_id: HP:0004858 def: "Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts)." [HPO:probinson] comment: Megaloblastic anemia can result from folic acid deficiency or vitamin B12 deficiency. Folate deficiency leads to an impairment of DNA synthesis such that the cell cycle cannot progress from the G2 growth stage to the mitosis stage, in turn leading to continuing cell growth without division, which presents as macrocytosis. xref: MSH:D000749 xref: SNOMEDCT_US:53165003 xref: UMLS:C0002888 is_a: HP:0001972 ! Macrocytic anemia [Term] id: HP:0001890 name: Autoimmune hemolytic anemia def: "An autoimmune form of hemolytic anemia." [HPO:probinson] synonym: "Autoimmune haemolytic anaemia" EXACT [] synonym: "Hemolytic anemia, autoimmune" EXACT [] xref: MSH:D000744 xref: SNOMEDCT_US:413603009 xref: UMLS:C0002880 is_a: HP:0001878 ! Hemolytic anemia is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0001891 name: Iron deficiency anemia synonym: "Ferropenic" EXACT [ORCID:0000-0001-6908-9849] synonym: "Iron-deficiency anemia" EXACT [] xref: MSH:D018798 xref: SNOMEDCT_US:87522002 xref: UMLS:C0162316 is_a: HP:0001931 ! Hypochromic anemia [Term] id: HP:0001892 name: Abnormal bleeding alt_id: HP:0004830 alt_id: HP:0004834 alt_id: HP:0004849 alt_id: HP:0004862 alt_id: HP:0004865 alt_id: HP:0008183 def: "An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects." [HPO:probinson] comment: This term is kept for historical reasons. If possible, a more exact description of the phenotype (i.e., whether there is a vascular, platelet and coagulation defect) should be attempted. synonym: "Bleeding diathesis" EXACT [] synonym: "Bleeding tendency" EXACT layperson [] synonym: "Hemorrhagic diathesis" EXACT [] xref: SNOMEDCT_US:248250000 xref: SNOMEDCT_US:64779008 xref: UMLS:C1458140 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues [Term] id: HP:0001894 name: Thrombocytosis def: "Increased numbers of platelets in the peripheral blood." [HPO:probinson] comment: Thrombocythemia and thrombocytosis are conditions with a higher than normal number of platelets. The term "thrombocythemia" is preferred when the cause of a high platelet count isn't known. The condition sometimes is called primary or essential thrombocythemia. synonym: "Increased number of platelets in blood" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Increased platelet count" EXACT [] synonym: "Thrombocythaemia" RELATED [] synonym: "Thrombocythemia" RELATED [] xref: MSH:D013922 xref: SNOMEDCT_US:415115007 xref: SNOMEDCT_US:6631009 xref: UMLS:C0836924 xref: UMLS:C0857460 is_a: HP:0011873 ! Abnormal platelet count [Term] id: HP:0001895 name: Normochromic anemia xref: UMLS:C0235983 is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001896 name: Reticulocytopenia def: "A reduced number of reticulocytes in the peripheral blood." [HPO:probinson] xref: SNOMEDCT_US:124961001 xref: UMLS:C0858867 is_a: HP:0004312 ! Abnormal reticulocyte morphology [Term] id: HP:0001897 name: Normocytic anemia def: "A kind of anemia in which the volume of the red blood cells is normal." [HPO:probinson] comment: In normocytic anemia, the mean corpuscular volume (MCV) is within normal limits (80-100 fl in adults). xref: SNOMEDCT_US:300980002 xref: UMLS:C0085577 is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001898 name: Increased red blood cell mass def: "The presence of an increased mass of red blood cells in the circulation." [HPO:probinson] synonym: "Increased RBC mass" EXACT HP:0045077 [] xref: UMLS:C1853288 is_a: HP:0001901 ! Polycythemia [Term] id: HP:0001899 name: Increased hematocrit def: "An elevation above the normal ratio of the volume of red blood cells to the total volume of blood." [HPO:probinson] synonym: "Increased Hct" EXACT HP:0045077 [] xref: UMLS:C0239935 is_a: HP:0031850 ! Abnormal hematocrit [Term] id: HP:0001900 name: Increased hemoglobin synonym: "Increased Hb" EXACT HP:0045077 [] xref: SNOMEDCT_US:131141003 xref: UMLS:C0549448 is_a: HP:0001901 ! Polycythemia [Term] id: HP:0001901 name: Polycythemia alt_id: HP:0001893 def: "Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal." [HPO:probinson] synonym: "Abnormally shaped erythrocytes" EXACT [ORCID:0000-0001-6908-9849] synonym: "Erythrocytosis" EXACT [] synonym: "Increased red blood cells" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Polyglobulia" EXACT [] xref: MSH:D011086 xref: SNOMEDCT_US:109992005 xref: SNOMEDCT_US:127062003 xref: UMLS:C0032461 xref: UMLS:C1527405 is_a: HP:0001877 ! Abnormal erythrocyte morphology [Term] id: HP:0001902 name: Giant platelets def: "Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998)." [HPO:probinson] comment: This phenotype may be present in myelodysplastic or myeloproliferative diseases and autoimmune thrombocytopenia (associated with severe leukemoid reactions). It may also be present in inherited diseases such as Bernard-Soulier syndrome or May-Hegglin anomaly. xref: SNOMEDCT_US:44687006 xref: UMLS:C0333864 is_a: HP:0011877 ! Increased mean platelet volume [Term] id: HP:0001903 name: Anemia alt_id: HP:0001926 alt_id: HP:0003136 alt_id: HP:0005509 def: "A reduction in erythrocytes volume or hemoglobin concentration." [HPO:probinson] comment: Anemia is not a specific entity but can result from many underlying pathologic processes. The three main causes of anemia are blood loss, decreased or faulty red blood cell production, and increased destruction of red blood cells. Various classifications are in clinical use including a classification according to the mean corpuscular volume (MCV) of the erythrocytes: microcytic, macrocytic, or normocytic. Anemias can also be classified according to variations in cell size and shape, as reflected by the red-cell distribution width (RDW). Additionally, anemias can be classified into those of inadequate production and hemolytic anemias. synonym: "Anaemia" EXACT [] synonym: "Decreased hemoglobin" RELATED [] synonym: "Low number of red blood cells or hemoglobin" EXACT layperson [orcid.org/0000-0002-6548-5200] xref: MSH:D000740 xref: SNOMEDCT_US:165397008 xref: SNOMEDCT_US:271737000 xref: UMLS:C0002871 xref: UMLS:C0162119 is_a: HP:0001877 ! Abnormal erythrocyte morphology [Term] id: HP:0001904 name: Neutropenia in presence of anti-neutropil antibodies def: "A type of neutropenia that is observed in the presence of granulocyte-specific antibodies." [HPO:probinson, PMID:25642312] comment: The antibodies are directed against the cell surface membrane and have no relationship with antineutrophil cytoplasmic antibodies (ANCAs) in the vast majority of cases. It is important to highlight that there are frequent difficulties in the detection of autoantibodies causing AIN due to the labile nature of granulocytes (not storable without activation and consequent autolysis). This type of neutropenia is commonly seen with autoimmune neutropenia of infancy (AIN), also called primary autoimmune neutropenia, is a disease in which antibodies recognize membrane antigens of neutrophils, mostly located on immunoglobulin G (IgG) Fc receptor type 3b (Fc-gamma-IIIb receptor), causing their peripheral destruction. synonym: "Autoimmune neutropenia" EXACT [] xref: SNOMEDCT_US:234425008 xref: UMLS:C0340971 is_a: HP:0001875 ! Neutropenia is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0001905 name: Congenital thrombocytopenia alt_id: HP:0004869 def: "Thrombocytopenia with congenital onset." [HPO:probinson] synonym: "thrombocytopenia, congenital" EXACT [] xref: UMLS:C0272278 is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0001907 name: Thromboembolism def: "The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site." [HPO:probinson] synonym: "Blood clot in blood vessel" EXACT [http://purl.obolibrary.org/obo/hp.owl#layperson, ORCID:0000-0002-6548-5200] synonym: "Embolism and thrombosis" RELATED [] synonym: "Thromboembolic disease" EXACT [] synonym: "Thromboembolic events" EXACT [] xref: MSH:D013923 xref: MSH:D016769 xref: SNOMEDCT_US:13713005 xref: SNOMEDCT_US:371039008 xref: UMLS:C0040038 xref: UMLS:C0085307 is_a: HP:0001977 ! Abnormal thrombosis [Term] id: HP:0001908 name: Hypoplastic anemia def: "Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia." [HPO:probinson] xref: MSH:D000741 xref: SNOMEDCT_US:167923006 xref: SNOMEDCT_US:41614006 xref: UMLS:C0178416 is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001909 name: Leukemia alt_id: HP:0005519 alt_id: HP:0006726 def: "A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes." [HPO:probinson, NCIT:C3161] synonym: "Blood cancer" BROAD layperson [ORCID:0000-0001-5208-3432] xref: MSH:D007938 xref: MSH:D019337 xref: SNOMEDCT_US:129154003 xref: SNOMEDCT_US:269475001 xref: SNOMEDCT_US:87163000 xref: SNOMEDCT_US:93143009 xref: UMLS:C0023418 xref: UMLS:C0376545 is_a: HP:0001881 ! Abnormal leukocyte morphology is_a: HP:0004377 ! Hematological neoplasm [Term] id: HP:0001911 name: Abnormal granulocyte morphology alt_id: HP:0005438 def: "Any structural abnormality or abnormal count of granulocytes." [HPO:probinson] synonym: "Abnormality of granulocytes" EXACT [] synonym: "Abnormality of neutrophil" EXACT [] xref: SNOMEDCT_US:250274006 xref: UMLS:C0427515 is_a: HP:0010974 ! Abnormal myeloid leukocyte morphology [Term] id: HP:0001912 name: Abnormal basophil morphology def: "Any structural abnormality or abnormal count of basophils." [HPO:probinson, PMID:24075190] comment: Basophils are myeoloid granulocytes and part of the innate immune system. They represent the least abundant granulocyte population in mammals. They have a complex, almost C-shaped nucleus. Their granules stain blue with basic dye. They are not phagacytic. They are involved in the immune response to worms. Their cell surface has Fc receptors which may be attached to class E antibodies. synonym: "Abnormality of basophils" EXACT [] xref: UMLS:C4025736 is_a: HP:0001911 ! Abnormal granulocyte morphology [Term] id: HP:0001913 name: Granulocytopenia def: "An abnormally reduced number of granulocytes in the blood." [HPO:probinson] xref: MSH:D000380 xref: SNOMEDCT_US:17182001 xref: SNOMEDCT_US:417672002 xref: UMLS:C0001824 is_a: HP:0032309 ! Abnormal granulocyte count [Term] id: HP:0001915 name: Aplastic anemia def: "Aplastic anemia is defined as pancytopenia with a hypocellular marrow." [HPO:probinson, pmid:21239768] comment: Aplastic anemia is characterized by reduced numbers of all blood cell types (red blood cells, white blood cells, and platelets) owing to reduced production. xref: MSH:D000741 xref: SNOMEDCT_US:304132006 xref: SNOMEDCT_US:306058006 xref: UMLS:C0002874 is_a: HP:0001876 ! Pancytopenia [Term] id: HP:0001917 name: Renal amyloidosis def: "A form of amyloidosis that affects the kidney." [HPO:probinson] xref: SNOMEDCT_US:48713002 xref: UMLS:C0268382 is_a: HP:0011034 ! Amyloidosis is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0001919 name: Acute kidney injury def: "Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia)." [HPO:probinson] comment: Acute renal failure is usually classified into prerenal (response to severe volume depletion), intrinsic (response to acute cytotoxic, ischemic, or inflammatory insults) and postrenal (response to obstruction of the passage of urine) etiologies. synonym: "Acute kidney failure" EXACT [ORCID:0000-0001-5208-3432] synonym: "Acute renal failure" EXACT [] xref: MSH:D058186 xref: SNOMEDCT_US:14350001000004108 xref: SNOMEDCT_US:14669001 xref: UMLS:C0022660 xref: UMLS:C2609414 is_a: HP:0000083 ! Renal insufficiency [Term] id: HP:0001920 name: Renal artery stenosis def: "The presence of stenosis of the renal artery." [HPO:probinson] synonym: "Narrowing of kidney artery" EXACT layperson [ORCID:0000-0001-5208-3432] xref: Fyler:2634 xref: MSH:D012078 xref: SNOMEDCT_US:282664001 xref: SNOMEDCT_US:302233006 xref: UMLS:C0035067 is_a: HP:0008776 ! Abnormal renal artery morphology is_a: HP:0100545 ! Arterial stenosis [Term] id: HP:0001922 name: Vacuolated lymphocytes alt_id: HP:0008147 alt_id: HP:0008329 def: "The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm." [HPO:probinson, pmid:20633042] comment: Vacuolated lymphocytes occur most commonly as the peripheral blood manifestation of inherited metabolic disorders, including Niemann-Pick disease Type A, infantile sialic acid storage disorder, Wolman's disease, Mucolipidoses II and III, Salla disease, mannosidosis, Batten disease, GM1 gangliosidosis, neuraminidase deficiency, galactosidosis, fucosidosis, Pompe's disease, aspartylglycosaminuria and rarely, multiple sulfatase deficiency. The metabolic product, which causes vacuolation, depends on the specific enzyme deficiency. synonym: "Enlarged lysosomal vacuoles in lymphocytes" EXACT [] synonym: "Vacuolated blood lymphocytes" EXACT [] xref: UMLS:C1836855 is_a: HP:0004332 ! Abnormal lymphocyte morphology [Term] id: HP:0001923 name: Reticulocytosis def: "An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation." [HPO:probinson] synonym: "Increased immature red blood cells" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Increased number of immature red blood cells" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Increased reticulocyte count" EXACT [] synonym: "Increased reticulocytes" EXACT [] xref: MSH:D045262 xref: SNOMEDCT_US:46049004 xref: UMLS:C0206160 is_a: HP:0004312 ! Abnormal reticulocyte morphology [Term] id: HP:0001924 name: Sideroblastic anemia alt_id: HP:0100791 def: "Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining)." [HPO:probinson] comment: Sideroblastic anemia may be either congenital or acquired. In sideroblastic anemia, the hematocrit tends to be around 20 to 30 percent, and the mean corpuscular volume is normal or low. synonym: "Hypersideremic anemia" EXACT [] xref: MSH:D000756 xref: SNOMEDCT_US:41841004 xref: UMLS:C0002896 is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001927 name: Acanthocytosis alt_id: HP:0005552 def: "Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars." [HPO:probinson] subset: hposlim_core synonym: "Acanthocytes" EXACT [] synonym: "Red cell acanthocytosis" EXACT [] xref: SNOMEDCT_US:250249008 xref: UMLS:C0687751 is_a: HP:0004447 ! Poikilocytosis [Term] id: HP:0001928 name: Abnormality of coagulation def: "An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot." [HPO:probinson] synonym: "Abnormal blood clotting" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Abnormal blood coagulation studies" EXACT [] synonym: "Blood coagulation disorder" RELATED [] synonym: "Coagulation abnormalities" EXACT [] synonym: "Coagulation abnormality" EXACT [] synonym: "Haemorrhagic disorders" EXACT [HPO:sdoelken] xref: MSH:D001778 xref: MSH:D006474 xref: SNOMEDCT_US:362970003 xref: SNOMEDCT_US:64779008 xref: UMLS:C0005779 xref: UMLS:C0019087 xref: UMLS:C1846821 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues [Term] id: HP:0001929 name: Reduced factor XI activity def: "Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX." [HPO:probinson] synonym: "Factor XI deficiency" RELATED [] synonym: "Low factor XI activity" EXACT [] xref: MSH:D005173 xref: SNOMEDCT_US:49762007 xref: UMLS:C0015523 is_a: HP:0010989 ! Abnormality of the intrinsic pathway [Term] id: HP:0001930 name: Nonspherocytic hemolytic anemia xref: UMLS:C4025735 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0001931 name: Hypochromic anemia def: "A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes." [HPO:probinson] comment: The low concentration of hemoglobin in the erythrocytes causes them to be abnormally pale, i.e., to have less color (be hypochromic). synonym: "Hypochromic anaemia" EXACT [] xref: MSH:D000747 xref: SNOMEDCT_US:44452003 xref: UMLS:C0002884 is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001933 name: Subcutaneous hemorrhage def: "This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses)." [HPO:probinson] comment: Purpura measure 0.3-1 cm (3-10 mm), whereas petechiae measure less than 3 mm, and ecchymoses greater than 1 cm. synonym: "Bleeding below the skin" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C0854107 is_a: HP:0001892 ! Abnormal bleeding is_a: HP:0011276 ! Vascular skin abnormality created_by: peter creation_date: 2008-02-28T07:14:00Z [Term] id: HP:0001934 name: Persistent bleeding after trauma alt_id: HP:0007463 synonym: "Excessive bleeding after minor trauma" EXACT layperson [] synonym: "Frequent bleeding with trauma" EXACT layperson [] synonym: "Prolonged bleeding after minor trauma" EXACT layperson [] xref: UMLS:C1844374 is_a: HP:0001892 ! Abnormal bleeding [Term] id: HP:0001935 name: Microcytic anemia def: "A kind of anemia in which the volume of the red blood cells is reduced." [HPO:probinson] comment: In normocytic anemia, the mean corpuscular volume (MCV) is below normal limits (>80 fl in adults). xref: MSH:C562385 xref: SNOMEDCT_US:234349007 xref: UMLS:C0085576 is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001937 name: Microangiopathic hemolytic anemia xref: MSH:D000743 xref: SNOMEDCT_US:51071000 xref: UMLS:C0221021 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0001939 name: Abnormality of metabolism/homeostasis alt_id: HP:0002146 alt_id: HP:0004355 alt_id: HP:0004367 synonym: "Laboratory abnormality" EXACT layperson [] synonym: "Metabolism abnormality" EXACT layperson [] xref: UMLS:C4021768 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001941 name: Acidosis alt_id: HP:0001940 def: "Abnormal acid accumulation or depletion of base." [HPO:probinson, PMID:24381489] comment: When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis. xref: MSH:D000138 xref: SNOMEDCT_US:51387008 xref: UMLS:C0001122 is_a: HP:0004360 ! Abnormality of acid-base homeostasis [Term] id: HP:0001942 name: Metabolic acidosis alt_id: HP:0004895 alt_id: HP:0004907 def: "Acid accumulation or depletion of base in the body due to buildup of metabolic acids." [HPO:probinson] xref: MSH:D000138 xref: SNOMEDCT_US:59455009 xref: UMLS:C0220981 is_a: HP:0001941 ! Acidosis [Term] id: HP:0001943 name: Hypoglycemia alt_id: HP:0003356 def: "A decreased concentration of glucose in the blood." [HPO:curators] synonym: "Hypoglycaemia" EXACT [] synonym: "Low blood sugar" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D007003 xref: SNOMEDCT_US:237630007 xref: SNOMEDCT_US:271327008 xref: SNOMEDCT_US:302866003 xref: UMLS:C0020615 is_a: HP:0011015 ! Abnormal blood glucose concentration [Term] id: HP:0001944 name: Dehydration synonym: "Dehydration" EXACT layperson [] xref: MSH:D003681 xref: SNOMEDCT_US:34095006 xref: UMLS:C0011175 is_a: HP:0011032 ! Abnormality of fluid regulation [Term] id: HP:0001945 name: Fever def: "Elevated body temperature due to failed thermoregulation." [HPO:sdoelken] comment: Hyperthermia is defined as a temperature greater than 37.5-38.3 degree celsius (100-101 degree Fahrenheit). synonym: "Fever" EXACT layperson [] synonym: "Hyperthermia" EXACT [] synonym: "Pyrexia" EXACT [] xref: MSH:D005334 xref: SNOMEDCT_US:386661006 xref: SNOMEDCT_US:50177009 xref: UMLS:C0015967 is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0001946 name: Ketosis alt_id: HP:0003543 def: "Presence of elevated levels of ketone bodies in the body." [HPO:probinson, PMID:28278308] comment: Ketone bodies are formed from acetyl-CoA in the liver by ketogenesis when the liver glycogen stores are depleted. Ketone bodies are acidic, and ketoacidosis ensues if the compensatory mechanisms are overloaded. The predominant ketones being acetoacetate, acetone, and beta-hydroxybutyrate. synonym: "High levels of ketone bodies" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hyperketosis" EXACT [] xref: MSH:D007662 xref: SNOMEDCT_US:213281004 xref: SNOMEDCT_US:2538008 xref: UMLS:C0022638 xref: UMLS:C0235430 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0001947 name: Renal tubular acidosis def: "Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis." [HPO:probinson] synonym: "Accumulation of acid in body due to kidney problem" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:D000141 xref: SNOMEDCT_US:1776003 xref: UMLS:C0001126 is_a: HP:0000124 ! Renal tubular dysfunction is_a: HP:0001941 ! Acidosis [Term] id: HP:0001948 name: Alkalosis def: "Depletion of acid or accumulation base in the body fluids." [HPO:probinson, PMID:24381489] comment: When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis. xref: MSH:D000471 xref: SNOMEDCT_US:21420006 xref: UMLS:C0002063 is_a: HP:0004360 ! Abnormality of acid-base homeostasis [Term] id: HP:0001949 name: Hypokalemic alkalosis xref: SNOMEDCT_US:22774003 xref: UMLS:C0085570 is_a: HP:0001948 ! Alkalosis [Term] id: HP:0001950 name: Respiratory alkalosis def: "Alkalosis due to excess loss of carbon dioxide from the body." [HPO:probinson] xref: MSH:D000472 xref: SNOMEDCT_US:111378004 xref: UMLS:C0002064 is_a: HP:0001948 ! Alkalosis [Term] id: HP:0001951 name: Episodic ammonia intoxication xref: UMLS:C1839541 is_a: HP:0004364 ! Abnormal circulating nitrogen compound concentration [Term] id: HP:0001952 name: Glucose intolerance alt_id: HP:0000833 def: "Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM)." [PMID:29763085] synonym: "Abnormal glucose tolerance" EXACT [] synonym: "Glucose intolerance" EXACT layperson [] synonym: "HP:0000833" EXACT [] xref: UMLS:C0235401 is_a: HP:0011014 ! Abnormal glucose homeostasis [Term] id: HP:0001953 name: Diabetic ketoacidosis alt_id: HP:0008253 def: "A type of diabetic metabolic abnormality with an accumulation of ketone bodies." [HPO:probinson] synonym: "Diabetic ketosis" EXACT [] xref: MSH:D016883 xref: SNOMEDCT_US:420422005 xref: UMLS:C0011880 is_a: HP:0000819 ! Diabetes mellitus is_a: HP:0001993 ! Ketoacidosis [Term] id: HP:0001954 name: Recurrent fever alt_id: HP:0004903 alt_id: HP:0005962 alt_id: HP:0005966 alt_id: HP:0005980 def: "Periodic (episodic or recurrent) bouts of fever." [HPO:probinson] synonym: "Episodic fever" EXACT layperson [] synonym: "Hyperthermia, episodic" EXACT [] synonym: "Increased body temperature, episodic" EXACT layperson [] synonym: "Intermittent fever" EXACT layperson [] xref: SNOMEDCT_US:77957000 xref: UMLS:C0277799 is_a: HP:0001945 ! Fever [Term] id: HP:0001955 name: Unexplained fevers def: "Episodes of fever for which no infectious cause can be identified." [HPO:curators] synonym: "Unexplained fevers" EXACT layperson [] xref: UMLS:C1844662 is_a: HP:0001945 ! Fever [Term] id: HP:0001956 name: Truncal obesity alt_id: HP:0008885 def: "Obesity located preferentially in the trunk of the body as opposed to the extremities." [HPO:probinson] synonym: "Centripetal obesity" EXACT [] synonym: "Truncal obesity" EXACT layperson [] xref: MSH:D056128 xref: SNOMEDCT_US:248311001 xref: UMLS:C0311277 is_a: HP:0001513 ! Obesity [Term] id: HP:0001958 name: Nonketotic hypoglycemia xref: UMLS:C1865292 is_a: HP:0001943 ! Hypoglycemia [Term] id: HP:0001959 name: Polydipsia def: "Excessive thirst manifested by excessive fluid intake." [] synonym: "Extreme thirst" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:D059606 xref: SNOMEDCT_US:17173007 xref: SNOMEDCT_US:267026004 xref: UMLS:C0085602 is_a: HP:0030082 ! Abnormal drinking behavior [Term] id: HP:0001960 name: Hypokalemic metabolic alkalosis xref: UMLS:C0740898 is_a: HP:0001949 ! Hypokalemic alkalosis is_a: HP:0200114 ! Metabolic alkalosis [Term] id: HP:0001961 name: Hypoplastic heart synonym: "Small heart" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Underdeveloped heart" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3151525 is_a: HP:0001627 ! Abnormal heart morphology [Term] id: HP:0001962 name: Palpitations alt_id: HP:0001676 def: "A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia." [HPO:probinson] synonym: "Heart palpitations" EXACT [] synonym: "Missed heart beat" EXACT layperson [] synonym: "Palpitations" EXACT layperson [] synonym: "Skipped heart beat" EXACT layperson [] xref: SNOMEDCT_US:80313002 xref: UMLS:C0030252 is_a: HP:0011675 ! Arrhythmia [Term] id: HP:0001963 name: Abnormal speech discrimination def: "A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss." [HPO:curators] synonym: "Abnormal speech discrimination" EXACT layperson [] synonym: "Poor speech discrimination" EXACT layperson [] xref: UMLS:C1836752 is_a: HP:0000364 ! Hearing abnormality [Term] id: HP:0001964 name: Aplasia/Hypoplasia of metatarsal bones def: "Absence or underdevelopment of the metatarsal bones." [HPO:curators] synonym: "Absent or hypoplastic metatarsal" EXACT [] synonym: "Absent/hypoplastic metacarpals" EXACT [] synonym: "Absent/hypoplastic metatarsals" EXACT [] synonym: "Absent/small long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplastic/hypoplastic metatarsals" EXACT [] xref: UMLS:C1860182 is_a: HP:0001832 ! Abnormal metatarsal morphology is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet [Term] id: HP:0001965 name: Abnormality of the scalp def: "Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows." [HPO:probinson] comment: The scalp of the head has the following five layers: 1) skin and head hair; 2) connective tissue; 3) the aponeurosis (a layer of dense fibrous tissue); 4) loose areolar connective tissue; and 5) the periosteum of the skull bones. synonym: "Abnormality of the scalp" EXACT layperson [] synonym: "Anomaly of scalp" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025734 is_a: HP:0000234 ! Abnormality of the head [Term] id: HP:0001966 name: Mesangial abnormality def: "An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries." [HPO:probinson] xref: UMLS:C4025733 is_a: HP:0000095 ! Abnormality of renal glomerulus morphology [Term] id: HP:0001967 name: Diffuse mesangial sclerosis alt_id: HP:0004728 def: "Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion." [HPO:probinson] comment: This finding can be demonstrated by renal biopsy. synonym: "Diffuse mesangial sclerosis glomerulopathy" EXACT [] synonym: "Mesangial sclerosis" EXACT [] xref: MSH:C537346 xref: SNOMEDCT_US:111406002 xref: UMLS:C0268747 is_a: HP:0001966 ! Mesangial abnormality [Term] id: HP:0001969 name: Tubulointerstitial abnormality alt_id: HP:0008654 def: "An abnormality that involves the tubules and interstitial tissue of the kidney." [HPO:probinson] synonym: "Tubulointerstitial nephropathy" RELATED [] xref: MSH:D009395 xref: SNOMEDCT_US:28689008 xref: SNOMEDCT_US:428255004 xref: UMLS:C0041349 xref: UMLS:C4025732 is_a: HP:0000091 ! Abnormal renal tubule morphology [Term] id: HP:0001970 name: Tubulointerstitial nephritis def: "A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules." [HP:probinson] synonym: "Interstitial nephritis" EXACT [] synonym: "Nephritis, Tubulointerstitial" EXACT [] xref: MSH:D009395 xref: SNOMEDCT_US:28689008 xref: SNOMEDCT_US:428255004 xref: UMLS:C0041349 is_a: HP:0001969 ! Tubulointerstitial abnormality [Term] id: HP:0001971 name: Hypersplenism def: "A malfunctioning of the spleen in which it prematurely destroys red blood cells." [HPO:probinson] comment: The spleen normally functions to remove senescent red blood cells (RBCs) from the circulation. Hypersplenism represents a pathological acceleration of this function, resulting in the premature removal from the circulation of RBCs and other cellular components of the blood, often accompanied by an increase in size of the spleen (splenomegaly). xref: MSH:D006971 xref: SNOMEDCT_US:58381000 xref: UMLS:C0020532 is_a: HP:0025409 ! Abnormal spleen physiology [Term] id: HP:0001972 name: Macrocytic anemia def: "A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH)." [HPO:probinson, pmid:19202968] comment: The causes of macrocytosis can be broadly classified as megaloblastic and nonmegaloblastic. Megaloblastic processes are characterized on the peripheral smear by macroovalocytes and hypersegmented neutrophils, which are absent in nonmegaloblastic macrocytic processes. Nonmegaloblastic processes have round macrocytes or macroreticulocytes. xref: MSH:D000748 xref: SNOMEDCT_US:83414005 xref: UMLS:C0002886 is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001973 name: Autoimmune thrombocytopenia alt_id: HP:0001936 alt_id: HP:0004806 alt_id: HP:0004829 def: "The presence of thrombocytopenia in combination with detection of antiplatelet antibodies." [DDD:wouwehand] comment: Autoimmune thrombocytopenia is causes by accelerated destruction of auto-antibody sensitized platelets in the reticular-endothelial\nsystem. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Drug-induced autoimmune thrombocytopenia, and autoimmune thrombocytopenia following viral infection. synonym: "Idiopathic thrombocytopenia" EXACT [] synonym: "Idiopathic thrombocytopenic purpura" RELATED [] synonym: "Immune thrombocytopenia" EXACT [] xref: MSH:D016553 xref: SNOMEDCT_US:128091003 xref: SNOMEDCT_US:13172003 xref: SNOMEDCT_US:234490009 xref: SNOMEDCT_US:32273002 xref: UMLS:C0242584 xref: UMLS:C0398650 xref: UMLS:C0920163 is_a: HP:0001873 ! Thrombocytopenia is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0001974 name: Leukocytosis def: "An abnormal increase in the number of leukocytes in the blood." [HPO:probinson] synonym: "Elevated white blood count" EXACT layperson [] synonym: "High white blood count" EXACT layperson [] synonym: "Increased blood leukocyte number" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D007964 xref: SNOMEDCT_US:111583006 xref: UMLS:C0023518 is_a: HP:0011893 ! Abnormal leukocyte count [Term] id: HP:0001975 name: Decreased platelet glycoprotein IIb-IIIa def: "Decreased cell membrane concentration of glycoprotein IIb-IIIa." [DDD:ouwehand] comment: The glycoprotein IIb-IIIa is an integrin complex found on platelets that acts a receptor for fibrinogen and aids in platelet activation. synonym: "Glanzmann thrombasthenia" RELATED [] synonym: "Reduced level of platelet glycoprotein IIb/IIIa complex" EXACT [] xref: MSH:D013915 xref: SNOMEDCT_US:32942005 xref: UMLS:C0040015 xref: UMLS:C4021767 is_a: HP:0011878 ! Abnormal platelet membrane protein expression [Term] id: HP:0001976 name: Reduced antithrombin III activity def: "An abnormality of coagulation related to a decreased concentration of antithrombin-III." [HPO:probinson] comment: Antithrombin III (ATIII) inhibits the coagulation cascade by lysing thrombin and factor Xa. The defective inhibition of the coagulation cascade is associated with an increased risk of venous and arterial thrombosis. The physiological target proteases of antithrombin are those of the intrinsic pathway, namely the activated forms of Factor X, Factor IX, Factor XI, Factor XII, and, to a greater extent, Factor II (thrombin), and also the activated form of Factor VII (VIIa) from the the extrinsic pathway. synonym: "Anti-thrombin III deficiency" EXACT [] synonym: "Antithrombin III deficiency" EXACT [] synonym: "Decreased antithrombin III" EXACT [] xref: MSH:D020152 xref: SNOMEDCT_US:36351005 xref: UMLS:C0272375 is_a: HP:0010988 ! Abnormality of the extrinsic pathway is_a: HP:0010989 ! Abnormality of the intrinsic pathway [Term] id: HP:0001977 name: Abnormal thrombosis def: "Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis)." [HPO:probinson] synonym: "Abnormal blood clot" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4025731 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues [Term] id: HP:0001978 name: Extramedullary hematopoiesis alt_id: HP:0004847 def: "The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms." [HPO:probinson] comment: During fetal life, the formation of cellular blood components occurs mainly in the liver, shifting to the bone marrow postnatally. SOme pathological conditions associated with a severe reduction of marrow hematopoiesis are associated with extramedullary hematopoiesis. synonym: "Extramedullary erythropoiesis" RELATED [] xref: SNOMEDCT_US:124958002 xref: SNOMEDCT_US:42952007 xref: UMLS:C1292120 xref: UMLS:C2613439 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues [Term] id: HP:0001980 name: Megaloblastic bone marrow def: "Abnormal increased number of megaloblasts in the bone marrow." [HPO:probinson] comment: A megaloblast is an abnormally large nucleated red blood cell found especially in people with pernicious anemia. Megaloblasts, like their normal counterparts, normoblasts, are immature red cell precursors in the bone marrow. Megaloblasts display both a larger size than normoblasts as well as a fine reticular nuclear structure. xref: SNOMEDCT_US:167921008 xref: UMLS:C0238801 is_a: HP:0012145 ! Abnormality of multiple cell lineages in the bone marrow [Term] id: HP:0001981 name: Schistocytosis def: "The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood." [HPO:probinson] synonym: "Schistocytes" EXACT [] xref: SNOMEDCT_US:385472000 xref: UMLS:C0344386 is_a: HP:0004447 ! Poikilocytosis [Term] id: HP:0001982 name: Sea-blue histiocytosis def: "An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa." [HPO:probinson, pmid:8797061] synonym: "'Sea blue' histiocytes" EXACT [] synonym: "Sea-blue histiocyte" EXACT [] xref: MSH:D012618 xref: SNOMEDCT_US:37821003 xref: UMLS:C0036489 is_a: HP:0004311 ! Abnormal macrophage morphology [Term] id: HP:0001983 name: Reduced lymphocyte surface expression of CD43 def: "A reduction in the expression of CD43 on the cell surface of lymphocytes." [HPO:probinson] comment: CD43 is a cell-surface sialoglycoprotein that is expressed, typically at high levels, on all leukocytes except most resting B lymphocytes. synonym: "Cd43 defectively expressed on surface of blood cells" EXACT [] synonym: "Reduced lymphocyte surface expression of sialophorin" EXACT [] xref: UMLS:C4021766 is_a: HP:0031383 ! Abnormal lymphocyte surface marker expression [Term] id: HP:0001984 name: Intolerance to protein xref: UMLS:C1396243 is_a: HP:0012537 ! Food intolerance [Term] id: HP:0001985 name: Hypoketotic hypoglycemia alt_id: HP:0005969 def: "A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies." [HPO:probinson] comment: Normally, decreased glucose production leads to increased mitochondrial fatty acid beta-oxidation and the production of ketones. Thus, ketones provide an indication of whether the hypoglycemia is a result of inadequate production or overutilization of glucose (which tends to be associated with low plasma ketone levels). Hypoketotic hypoglycemia developing within several minutes of feeding is typical of hyperinsulinism. A good starting point for evaluating hypoglycemia is to divide patients into ketotic or non-ketotic. Normal physiologic response to decreased glucose production is increased mitochondrial fatty acid beta-oxidation and the production of ketones. Ketones provide an indirect indication of whether hypoglycemia is the result of inadequate production or of over-utilization of glucose (insulin-induced over-utilization, associated with low urine or plasma ketones). The history of the relationship of the hypoglycemia to feeding is often helpful. Hypoketotic hypoglycemia developing within several minutes of feeding is typical of hyperinsulinism. Patients with defects in glycogen breakdown, gluconeogenesis, or fatty acid oxidation tend to tolerate short-term fasting much better. synonym: "Hypoglycemia, hypoketotic" EXACT [] xref: UMLS:C1856438 is_a: HP:0001943 ! Hypoglycemia [Term] id: HP:0001986 name: Hypertonic dehydration synonym: "Hyperosmolar dehydration" EXACT [] xref: UMLS:C1112601 is_a: HP:0001944 ! Dehydration [Term] id: HP:0001987 name: Hyperammonemia alt_id: HP:0008308 alt_id: HP:0008334 def: "An increased concentration of ammonia in the blood." [HPO:gcarletti] synonym: "High blood ammonia levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D022124 xref: SNOMEDCT_US:9360008 xref: UMLS:C0220994 is_a: HP:0002157 ! Azotemia [Term] id: HP:0001988 name: Recurrent hypoglycemia def: "Recurrent episodes of decreased concentration of glucose in the blood." [HPO:gcarletti] synonym: "hypoglycaemia, recurrent" EXACT [HPO:skoehler] synonym: "hypoglycemia, recurrent" EXACT [HPO:skoehler] synonym: "Hypoglycemic episodes" EXACT [] synonym: "Recurrent hypoglycaemia" EXACT [] synonym: "Recurrent hypoglycemic episodes" EXACT [] synonym: "Recurrent low blood sugar levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1846288 is_a: HP:0001943 ! Hypoglycemia [Term] id: HP:0001989 name: Fetal akinesia sequence def: "Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia)." [HPO:probinson] subset: hposlim_core synonym: "Early severe fetal akinesia sequence" RELATED [HPO:skoehler] synonym: "Fetal akinesia" RELATED [HPO:skoehler] xref: MSH:C536647 xref: SNOMEDCT_US:401138005 xref: UMLS:C1276035 xref: UMLS:C3151520 is_a: HP:0001558 ! Decreased fetal movement [Term] id: HP:0001991 name: Aplasia/Hypoplasia of toe def: "Absence or hypoplasia of toes." [HPO:probinson] synonym: "Absent/hypoplastic toes" RELATED [HPO:skoehler] synonym: "Absent/small toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplastic/hypoplastic toe phalanges" EXACT [] xref: UMLS:C3551148 is_a: HP:0001780 ! Abnormality of toe is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet [Term] id: HP:0001992 name: Organic aciduria def: "Excretion of non-amino organic acids in urine." [HPO:probinson] xref: UMLS:C0241775 is_a: HP:0012072 ! Aciduria [Term] id: HP:0001993 name: Ketoacidosis def: "Acidosis resulting from accumulation of ketone bodies." [HPO:probinson] comment: Ketoacidosis can result from diabetes, alcoholic ketoacidosis, prolonged fasting, as well as several hereditary diseases of metabolism. xref: SNOMEDCT_US:56051008 xref: UMLS:C0220982 is_a: HP:0001941 ! Acidosis is_a: HP:0001946 ! Ketosis [Term] id: HP:0001994 name: Renal Fanconi syndrome def: "An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water." [HPO:probinson] synonym: "'de toni-fanconi-debre' syndrome" EXACT [] synonym: "Renal tubular fanconi syndrome" EXACT [] xref: MSH:D005198 xref: SNOMEDCT_US:236468006 xref: SNOMEDCT_US:44673006 xref: UMLS:C0341703 is_a: HP:0011038 ! Abnormality of renal resorption [Term] id: HP:0001995 name: Hyperchloremic acidosis xref: SNOMEDCT_US:18104000 xref: UMLS:C0085569 is_a: HP:0001941 ! Acidosis [Term] id: HP:0001996 name: Chronic metabolic acidosis def: "Longstanding metabolic acidosis." [HPO:probinson, pmid:15882309] comment: Severe chronic metabolic acidosis has two well-recognized major systemic consequences. First, metabolic acidosis, or acidemia, induces increased protein catabolism, decreased protein synthesis, and negative nitrogen and total body protein balance, which improve upon bicarbonate supplementation. Second, metabolic acidosis causes physicochemical dissolution of bone and cell-mediated bone resorption by inhibition of osteoblast and stimulation of osteoclast function. xref: UMLS:C0740749 is_a: HP:0001942 ! Metabolic acidosis is_a: HP:0012468 ! Chronic acidosis [Term] id: HP:0001997 name: Gout alt_id: HP:0001368 def: "Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues." [HPO:sdoelken] synonym: "Gouty arthritis" EXACT [] xref: MSH:D006073 xref: MSH:D015210 xref: SNOMEDCT_US:170733007 xref: SNOMEDCT_US:190828008 xref: SNOMEDCT_US:48440001 xref: SNOMEDCT_US:90560007 xref: UMLS:C0003868 xref: UMLS:C0018099 is_a: HP:0001369 ! Arthritis [Term] id: HP:0001998 name: Neonatal hypoglycemia synonym: "Low blood sugar in newborn" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:52767006 xref: UMLS:C0158986 is_a: HP:0001943 ! Hypoglycemia [Term] id: HP:0001999 name: Abnormal facial shape alt_id: HP:0002004 alt_id: HP:0002260 alt_id: HP:0004643 alt_id: HP:0004649 alt_id: HP:0004652 alt_id: HP:0004655 alt_id: HP:0004675 alt_id: HP:0005124 def: "An abnormal morphology (form) of the face or its components." [DDD:jclayton-smith] comment: This term now covers many of the historical inexact descriptions such as Bird-like facies that probably should be avoided in modern genetics. This portion of the Ontology should be revised. subset: hposlim_core synonym: "Abnormal facial shape" EXACT layperson [] synonym: "Abnormal morphology of the face" EXACT [ORCID:0000-0001-5889-4463] synonym: "Deformity of face" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Distinctive facies" EXACT [] synonym: "Distortion of face" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Dysmorphic facial features" EXACT [] synonym: "Dysmorphic facies" EXACT [ORCID:0000-0001-5889-4463] synonym: "Facial dysmorphism" EXACT [ORCID:0000-0001-5889-4463] synonym: "Funny looking face" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of face" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Unusual facial appearance" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Unusual facies" EXACT [] xref: SNOMEDCT_US:248200007 xref: SNOMEDCT_US:32003007 xref: SNOMEDCT_US:398206004 xref: SNOMEDCT_US:398302004 xref: UMLS:C0266617 xref: UMLS:C0424503 xref: UMLS:C1385263 xref: UMLS:C4072832 xref: UMLS:C4072833 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0002000 name: Short columella def: "Reduced distance from the anterior border of the naris to the subnasale." [pmid:19152422] comment: This is often accompanied by a Depressed nasal tip but this should be assessed and coded separately. The term Absent columella has been deleted because a columella is thought to always be present, except in Single naris and Proboscis. subset: hposlim_core synonym: "Columella, short" EXACT [] synonym: "Decreased length of columella" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypoplasia of columella" RELATED [ORCID:0000-0001-5889-4463] xref: UMLS:C1857479 xref: UMLS:C4280585 is_a: HP:0009929 ! Abnormality of the columella [Term] id: HP:0002002 name: Deep philtrum alt_id: HP:0000305 alt_id: HP:0004654 def: "Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border." [pmid:19152422] comment: Some have used the term depressed philtrum, suggesting the presence of normal philtral ridges with a deeper groove, while admitting the difficulty in distinguishing this from prominent ridges with a normal philtral groove. We are unaware of a truly deepened philtral groove with normal height of the ridges. subset: hposlim_core synonym: "Depressed philtrum" RELATED [] synonym: "Increased depth of philtrum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Philtrum, deep" EXACT [] synonym: "Prominent philtrum" EXACT [] synonym: "Pronounced philtrum" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1839797 xref: UMLS:C4020861 is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0002003 name: Large forehead synonym: "Hyperplasia of forehead" NARROW [ORCID:0000-0001-5889-4463] synonym: "Hypertrophy of forehead" NARROW [ORCID:0000-0001-5889-4463] synonym: "Increased size of forehead" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased size of frontal region of face" EXACT [ORCID:0000-0001-5889-4463] synonym: "Large forehead" EXACT layperson [] xref: UMLS:C1839783 xref: UMLS:C4280583 xref: UMLS:C4280584 is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0002006 name: Facial cleft def: "A congenital malformation with a cleft (gap or opening) in the face." [HPO:probinson] comment: The categories of facial cleft (subterms) correspond to Tessier, P (1976) Classification of rare craniofacial clefts, Journal of Maxillofacial Surgery; 4:69-92. There exists a competing classification system by Van der Meulen that divides different types of clefts based on where the development arrest occurs in the embryogenesis. The HPO uses the Tessier classification because it is based on phenotype rather than pathophysiological considerations. subset: hposlim_core synonym: "Cleft of the face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Facial cleft" EXACT layperson [] synonym: "Facial clefts" RELATED layperson [HPO:skoehler] synonym: "Tessier facial cleft" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:92821006 xref: UMLS:C0685787 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0002007 name: Frontal bossing alt_id: HP:0000254 alt_id: HP:0000333 alt_id: HP:0001358 alt_id: HP:0001359 def: "Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline." [pmid:19125436] comment: This is not the same as prominent forehead. subset: hposlim_core synonym: "Frontal protruberance" EXACT [ORCID:0000-0001-5889-4463] synonym: "Skull bossing" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:90145001 xref: UMLS:C0221354 is_a: HP:0000290 ! Abnormality of the forehead is_a: HP:0011218 ! Abnormal shape of the frontal region [Term] id: HP:0002009 name: Potter facies def: "A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose." [HPO:probinson] comment: Potter sequence is a sequence of events resulting from oligohydramnios due to any of a number of causes such as bilateral renal agenesis. Affected fetuses often have a characteristic facial appearance. xref: SNOMEDCT_US:24814002 xref: UMLS:C0266619 is_a: HP:0011334 ! Facial shape deformation [Term] id: HP:0002010 name: Narrow maxilla synonym: "Decreased breadth of upper jaw bones" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased transverse dimension of maxilla" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased width of maxilla" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased width of upper jaw bones" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Narrow upper jaw bones" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Transverse hypoplasia of maxilla" EXACT [ORCID:0000-0001-5889-4463] synonym: "Transverse maxillary deficiency" EXACT [ORCID:0000-0001-5889-4463] synonym: "Transverse maxillary insufficiency" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1851835 is_a: HP:0000326 ! Abnormality of the maxilla [Term] id: HP:0002011 name: Morphological abnormality of the central nervous system alt_id: HP:0002405 alt_id: HP:0002413 alt_id: HP:0002481 alt_id: HP:0007319 def: "A structural abnormality of the central nervous system." [HPO:probinson] synonym: "Abnormality of the central nervous system" EXACT [] synonym: "Central nervous system disease" RELATED [] synonym: "Morphological abnormality of the CNS" EXACT HP:0045077 [] xref: MSH:D002493 xref: SNOMEDCT_US:23853001 xref: UMLS:C0007682 xref: UMLS:C4021765 is_a: HP:0012639 ! Abnormality of nervous system morphology [Term] id: HP:0002012 name: Abnormality of the abdominal organs def: "An abnormality of the viscera of the abdomen." [HPO:probinson] comment: The abdominal organs comprise the stomach, small and large intestines, liver, pancreas, bile tract, and spleen. synonym: "Abnormality of the abdominal organs" EXACT layperson [] synonym: "Gastrointestinal tract defects" EXACT [] xref: UMLS:C4021764 is_a: HP:0025031 ! Abnormality of the digestive system [Term] id: HP:0002013 name: Vomiting def: "Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions." [HPO:probinson] subset: hposlim_core synonym: "Emesis" EXACT [] synonym: "Throwing up" EXACT layperson [] synonym: "Vomiting" EXACT layperson [] xref: MEDDRA:10047700 "Vomiting" xref: MSH:D014839 xref: SNOMEDCT_US:249497008 xref: SNOMEDCT_US:300359004 xref: SNOMEDCT_US:422400008 xref: UMLS:C0042963 is_a: HP:0002017 ! Nausea and vomiting [Term] id: HP:0002014 name: Diarrhea def: "Abnormally increased frequency of loose or watery bowel movements." [HPO:probinson] synonym: "Diarrhea" EXACT layperson [] synonym: "Diarrhoea" EXACT HP:0045076 [] synonym: "Watery stool" EXACT layperson [] xref: MSH:D003967 xref: SNOMEDCT_US:267060006 xref: SNOMEDCT_US:62315008 xref: UMLS:C0011991 is_a: HP:0011458 ! Abdominal symptom [Term] id: HP:0002015 name: Dysphagia alt_id: HP:0002569 def: "Difficulty in swallowing." [HPO:probinson] subset: hposlim_core synonym: "Deglutition disorder" RELATED [] synonym: "Poor swallowing" EXACT layperson [] synonym: "Swallowing difficulties" EXACT layperson [] synonym: "Swallowing difficulty" EXACT layperson [] xref: MEDDRA:10013950 "Dysphagia" xref: MSH:D003680 xref: SNOMEDCT_US:288939007 xref: SNOMEDCT_US:40739000 xref: UMLS:C0011168 is_a: HP:0012638 ! Abnormality of nervous system physiology is_a: HP:0025270 ! Abnormality of esophagus physiology [Term] id: HP:0002017 name: Nausea and vomiting synonym: "Nausea and vomiting" EXACT layperson [] xref: SNOMEDCT_US:16932000 xref: UMLS:C0027498 is_a: HP:0011458 ! Abdominal symptom [Term] id: HP:0002018 name: Nausea def: "A sensation of unease in the stomach together with an urge to vomit." [HPO:probinson] subset: hposlim_core synonym: "Nausea" EXACT layperson [] xref: MEDDRA:10028813 "Nausea" xref: MSH:D009325 xref: SNOMEDCT_US:422587007 xref: UMLS:C0027497 is_a: HP:0002017 ! Nausea and vomiting [Term] id: HP:0002019 name: Constipation alt_id: HP:0002241 alt_id: HP:0003786 def: "Infrequent or difficult evacuation of feces." [HPO:probinson] synonym: "Constipation" EXACT layperson [] synonym: "Costiveness" EXACT [] synonym: "Dyschezia" EXACT [] xref: MSH:D003248 xref: SNOMEDCT_US:14760008 xref: SNOMEDCT_US:225595004 xref: UMLS:C0009806 xref: UMLS:C0237326 is_a: HP:0011458 ! Abdominal symptom [Term] id: HP:0002020 name: Gastroesophageal reflux alt_id: HP:0004793 def: "A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter." [HPO:probinson] subset: hposlim_core synonym: "Acid reflux" EXACT layperson [] synonym: "Acid reflux disease" EXACT layperson [] synonym: "Gastroesophageal reflux disease" EXACT [] synonym: "GERD" EXACT HP:0045077 [HPO:skoehler] synonym: "Heartburn" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D005764 xref: MSH:D006356 xref: SNOMEDCT_US:16331000 xref: SNOMEDCT_US:235595009 xref: SNOMEDCT_US:698065002 xref: UMLS:C0017168 xref: UMLS:C0018834 is_a: HP:0002577 ! Abnormality of the stomach is_a: HP:0025270 ! Abnormality of esophagus physiology [Term] id: HP:0002021 name: Pyloric stenosis def: "An abnormal narrowing of the pylorus." [HPO:probinson] comment: Pyloric stenosis occurs in the first few months of life. subset: hposlim_core xref: Fyler:4444 xref: MEDDRA:10037621 "Pyloric stenosis" xref: MSH:D011707 xref: SNOMEDCT_US:367403001 xref: UMLS:C0034194 is_a: HP:0004400 ! Abnormality of the pylorus [Term] id: HP:0002023 name: Anal atresia alt_id: HP:0001550 def: "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:probinson] subset: hposlim_core synonym: "Absent anus" EXACT layperson [orcid.org/0000-0002-6548-5200] synonym: "Imperforate anus" RELATED [] xref: Fyler:4402 xref: Fyler:4443 xref: MEDDRA:10002120 "Anal atresia" xref: MSH:D001006 xref: SNOMEDCT_US:204712000 xref: SNOMEDCT_US:204731006 xref: UMLS:C0003466 is_a: HP:0004378 ! Abnormality of the anus [Term] id: HP:0002024 name: Malabsorption alt_id: HP:0008270 def: "Impaired ability to absorb one or more nutrients from the intestine." [HPO:probinson] synonym: "Intestinal malabsorption" EXACT layperson [] synonym: "Malabsorption" EXACT layperson [] xref: UMLS:C3714745 is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0002025 name: Anal stenosis def: "Abnormal narrowing of the anal opening." [HPO:probinson] subset: hposlim_core synonym: "Narrowing of anal opening" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MEDDRA:10002176 "Anal stenosis" xref: SNOMEDCT_US:250037002 xref: SNOMEDCT_US:69914001 xref: UMLS:C0262374 is_a: HP:0004378 ! Abnormality of the anus [Term] id: HP:0002027 name: Abdominal pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen." [HPO:probinson] comment: Abdominal pain can be crampy, achy, dull, intermittent or sharp. The terms stomach ache and stomach cramps are nonmedical terms often used to describe pain in the mid- or upper abdominal area, even though it is not the case that the (smooth) muscles of the stomach or the abdomen have cramps. Stomach pain is another layperson term commonly used to refer to abdominal pain. subset: hposlim_core synonym: "Abdominal discomfort" RELATED layperson [] synonym: "Abdominal pain" EXACT layperson [] synonym: "Gastro pain" BROAD layperson [] synonym: "Gastrointestinal pain" BROAD layperson [] synonym: "Pain in stomach" EXACT layperson [] synonym: "Stomach pain" EXACT layperson [ORCID:0000-0002-0736-9199] synonym: "Upset stomach" RELATED layperson [ORCID:0000-0001-6439-2224] xref: MEDDRA:10000081 "Abdominal pain" xref: MSH:D015746 xref: SNOMEDCT_US:21522001 xref: UMLS:C0000737 is_a: HP:0011458 ! Abdominal symptom is_a: HP:0012531 ! Pain [Term] id: HP:0002028 name: Chronic diarrhea def: "The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks." [HPO:probinson] synonym: "Chronic diarrhea" EXACT layperson [] synonym: "Diarrhea, recurrent" RELATED layperson [HPO:skoehler] synonym: "Recurrent diarrhea" RELATED layperson [HPO:skoehler] xref: SNOMEDCT_US:236071009 xref: UMLS:C0401151 is_a: HP:0002014 ! Diarrhea [Term] id: HP:0002031 name: Abnormal esophagus morphology def: "A structural abnormality of the esophagus." [HPO:probinson] synonym: "Abnormality of esophagus morphology" EXACT layperson [] synonym: "Anomaly of the esophagus" EXACT [] xref: SNOMEDCT_US:69771008 xref: UMLS:C0266126 is_a: HP:0012718 ! Morphological abnormality of the gastrointestinal tract [Term] id: HP:0002032 name: Esophageal atresia def: "A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach." [HPO:curators] synonym: "Birth defect in which part of esophagus did not develop" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: Fyler:4412 xref: MSH:D004933 xref: SNOMEDCT_US:26179002 xref: UMLS:C0014850 is_a: HP:0002031 ! Abnormal esophagus morphology is_a: HP:0002589 ! Gastrointestinal atresia [Term] id: HP:0002033 name: Poor suck def: "An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed." [HPO:curators] synonym: "Poor suck" EXACT layperson [] synonym: "Poor sucking" EXACT layperson [HPO:skoehler] xref: UMLS:C1837142 is_a: HP:0008872 ! Feeding difficulties in infancy [Term] id: HP:0002034 name: Abnormality of the rectum def: "An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus." [HPO:probinson] synonym: "Abnormality of the rectum" EXACT layperson [] synonym: "Anomaly of the rectum" EXACT layperson [] xref: SNOMEDCT_US:86993003 xref: UMLS:C0266210 is_a: HP:0002250 ! Abnormal large intestine morphology is_a: HP:0012732 ! Anorectal anomaly [Term] id: HP:0002035 name: Rectal prolapse def: "Protrusion of the rectal mucous membrane through the anus." [HPO:probinson] subset: hposlim_core synonym: "Rectal prolapsed" RELATED [HPO:skoehler] synonym: "Rectum protrudes through anus" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MEDDRA:10038077 "Rectal prolapse" xref: MSH:D012005 xref: SNOMEDCT_US:57773001 xref: UMLS:C0034888 is_a: HP:0002034 ! Abnormality of the rectum [Term] id: HP:0002036 name: Hiatus hernia def: "The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus." [HPO:probinson] comment: A tendency for the upper part of the stomach to herniate into the thorax because of a weakness of the esophageal hiatus, which is the hole in the diaphragm through which the esophagus passes. Hiatus hernia can be asymptomatic or can lead to acid reflux symptoms (heartburn). subset: hposlim_core synonym: "Hiatal hernia" EXACT [] synonym: "Stomach hernia" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MEDDRA:10020028 "Hiatus hernia" xref: MSH:D006551 xref: SNOMEDCT_US:84089009 xref: UMLS:C3489393 is_a: HP:0002577 ! Abnormality of the stomach is_a: HP:0100790 ! Hernia created_by: peter creation_date: 2008-02-20T11:28:00Z [Term] id: HP:0002037 name: Inflammation of the large intestine def: "Inflammation, or an inflammatory state in the large intestine." [] synonym: "Inflammation of the large intestine" EXACT layperson [] synonym: "Inflammatory bowel disease" RELATED layperson [] xref: MSH:D015212 xref: SNOMEDCT_US:24526004 xref: SNOMEDCT_US:302168000 xref: UMLS:C0021390 xref: UMLS:C0578878 is_a: HP:0002250 ! Abnormal large intestine morphology is_a: HP:0004386 ! Gastrointestinal inflammation [Term] id: HP:0002038 name: Protein avoidance xref: UMLS:C1839531 is_a: HP:0011458 ! Abdominal symptom [Term] id: HP:0002039 name: Anorexia def: "A lack or loss of appetite for food (as a medical condition)." [HPO:probinson] comment: Note that this term does not refer to the condition anorexia nervosa (A disorder characterized by an obsessive desire to lose weight by refusing to eat). synonym: "Anorexia" EXACT layperson [] xref: MSH:D000855 xref: SNOMEDCT_US:79890006 xref: UMLS:C0003123 is_a: HP:0011458 ! Abdominal symptom [Term] id: HP:0002040 name: Esophageal varix def: "Extreme dilation of the submucusoal veins in the lower portion of the esophagus." [HPO:probinson] comment: Esophageal varices are most often a consequence of portal hypertension. subset: hposlim_core synonym: "Enlarged vein in esophagus" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Esophageal varices" RELATED [] xref: MEDDRA:10056091 "Varices oesophageal" xref: MSH:D004932 xref: SNOMEDCT_US:28670008 xref: UMLS:C0014867 is_a: HP:0002031 ! Abnormal esophagus morphology [Term] id: HP:0002041 name: Intractable diarrhea xref: UMLS:C0743178 is_a: HP:0002014 ! Diarrhea [Term] id: HP:0002043 name: Esophageal stricture def: "A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen." [HPO:probinson] comment: Gastroesophageal reflux is a common cause of esophageal stricture. synonym: "Narrowing of esophagus due to inflammation and scar tissue" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D004940 xref: SNOMEDCT_US:63305008 xref: UMLS:C0014866 is_a: HP:0010450 ! Esophageal stenosis [Term] id: HP:0002044 name: Zollinger-Ellison syndrome def: "A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration." [HPO:probinson] comment: Zollinger-Ellison syndrome may occur as a manifestation of multiple endocrine neoplasia type 1. subset: hposlim_core xref: MEDDRA:10048281 "Zollinger-Ellison syndrome" xref: MSH:D015043 xref: SNOMEDCT_US:53132006 xref: UMLS:C0043515 is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract [Term] id: HP:0002045 name: Hypothermia def: "Reduced body temperature due to failed thermoregulation." [HPO:sdoelken] comment: A condition in which core temperature drops below that required for normal metabolism and body functions which is defined as 35.0 degrees C (95.0 degrees F). synonym: "Abnormally low body temperature" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hypothermia" EXACT layperson [] xref: MSH:D007035 xref: SNOMEDCT_US:386689009 xref: UMLS:C0020672 is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0002046 name: Heat intolerance def: "The inability to maintain a comfortably body temperature in warm or hot weather." [HPO:probinson] comment: Heat intolerance tends to produce a feeling of being overheated and profuse diaphoresis (sweating). Many, but not all, cases of heat intolerance are related to thyrotoxicosis. subset: hposlim_core synonym: "Heat intolerance" EXACT layperson [] synonym: "Intolerance to heat and fevers" EXACT layperson [] xref: SNOMEDCT_US:69215007 xref: UMLS:C0231274 is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0002047 name: Malignant hyperthermia alt_id: HP:0004896 def: "Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine." [HPO:curators] synonym: "Malignant hyperthermia with anesthesia" EXACT [] xref: MSH:D008305 xref: SNOMEDCT_US:213026003 xref: SNOMEDCT_US:405501007 xref: UMLS:C0024591 is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0002048 name: Renal cortical atrophy def: "Atrophy of the cortex of the kidney." [HPO:probinson] xref: UMLS:C4025730 is_a: HP:0011035 ! Abnormal renal cortex morphology is_a: HP:0012585 ! Renal atrophy [Term] id: HP:0002049 name: Proximal renal tubular acidosis def: "A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia." [HPO:probinson] synonym: "Proximal tubular acidosis" EXACT [] synonym: "Renal tubular acidosis, proximal" EXACT [] synonym: "Renal tubular acidosis, type II" EXACT [] xref: MSH:D000141 xref: SNOMEDCT_US:24790002 xref: UMLS:C0268435 is_a: HP:0001947 ! Renal tubular acidosis [Term] id: HP:0002050 name: Macroorchidism, postpubertal xref: UMLS:C1839782 is_a: HP:0000053 ! Macroorchidism [Term] id: HP:0002054 name: Heavy supraorbital ridges synonym: "Heavy brow of the face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Heavy supraorbital ridge" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1845107 is_a: HP:0000336 ! Prominent supraorbital ridges [Term] id: HP:0002055 name: Curved linear dimple below the lower lip xref: UMLS:C1844572 is_a: HP:0000178 ! Abnormality of lower lip [Term] id: HP:0002056 name: Abnormality of the glabella def: "An abnormality of the glabella." [HPO:probinson] synonym: "Abnormality of the area between the eyebrows" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Deformity of the area between the eyebrows" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Glabellar abnormality" EXACT [] synonym: "Malformation of the area between the eyebrows" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021763 is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0002057 name: Prominent glabella def: "Forward protrusion of the glabella." [HPO:probinson, pmid:19125436] comment: The glabella is the area of the forehead in the midline between the supraorbital ridges, just above the nasal root. subset: hposlim_core synonym: "Convex glabella" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hyperplasia of glabella" EXACT [ORCID:0000-0001-5889-4463] synonym: "Prominent area between the eyebrows" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Protruding area between the eyebrows" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1860247 is_a: HP:0002056 ! Abnormality of the glabella [Term] id: HP:0002058 name: Myopathic facies alt_id: HP:0004647 def: "A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness." [HPO:curators] synonym: "Myopathic face" EXACT [] synonym: "Myopathic facial appearance" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:26432009 xref: UMLS:C0332615 is_a: HP:0004673 ! Decreased facial expression [Term] id: HP:0002059 name: Cerebral atrophy alt_id: HP:0002422 alt_id: HP:0006890 def: "Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum." [HPO:sdoelken] comment: Atrophy may be progressive over time. synonym: "Degeneration of cerebrum" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Supratentorial atrophy" RELATED [] xref: SNOMEDCT_US:278849000 xref: SNOMEDCT_US:418143002 xref: SNOMEDCT_US:52522001 xref: UMLS:C0154671 xref: UMLS:C0235946 xref: UMLS:C4020860 is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum [Term] id: HP:0002060 name: Abnormality of the cerebrum def: "An abnormality of the telencephalon, which is also known as the cerebrum." [HPO:probinson] synonym: "Abnormality of the telencephalon" EXACT [] xref: UMLS:C4021762 is_a: HP:0100547 ! Abnormality of forebrain morphology [Term] id: HP:0002061 name: Lower limb spasticity def: "Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis" [HPO:probinson, UKT:rschuele] xref: SNOMEDCT_US:394679006 xref: UMLS:C1271100 is_a: HP:0001257 ! Spasticity [Term] id: HP:0002062 name: Morphological abnormality of the pyramidal tract alt_id: HP:0012445 def: "Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts." [HPO:curators] comment: The pyramidal tracts comprise both the corticospinal and corticobulbar tracts. synonym: "Abnormality of the pyramidal tracts" EXACT [] synonym: "Pyramidal tract disease" RELATED [] xref: UMLS:C4020859 xref: UMLS:C4021761 is_a: HP:0002011 ! Morphological abnormality of the central nervous system [Term] id: HP:0002063 name: Rigidity def: "Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity." [HPO:probinson] comment: Rigidity is often a manifestation of basal ganglia diseases. synonym: "Muscle rigidity" EXACT layperson [] synonym: "Rigidity" EXACT layperson [] xref: MSH:D009127 xref: SNOMEDCT_US:16046003 xref: UMLS:C0026837 is_a: HP:0011442 ! Abnormality of central motor function [Term] id: HP:0002064 name: Spastic gait def: "Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg." [PMID:25649546] synonym: "Spastic walk" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D020233 xref: SNOMEDCT_US:9447003 xref: UMLS:C0231687 is_a: HP:0001257 ! Spasticity is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002066 name: Gait ataxia alt_id: HP:0002379 def: "A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall." [HPO:probinson, UKT:rschuele] synonym: "Ataxia of gait" EXACT [] synonym: "Ataxic gait" EXACT [] synonym: "Inability to coordinate movements when walking" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D020234 xref: SNOMEDCT_US:25136009 xref: UMLS:C0751837 is_a: HP:0001251 ! Ataxia is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002067 name: Bradykinesia def: "Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement)." [HPO:probinson] synonym: "Slow movements" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Slowness of movements" EXACT layperson [] xref: MSH:D018476 xref: SNOMEDCT_US:399317006 xref: UMLS:C0233565 is_a: HP:0002071 ! Abnormality of extrapyramidal motor function [Term] id: HP:0002068 name: Neuromuscular dysphagia xref: UMLS:C4025729 is_a: HP:0002015 ! Dysphagia [Term] id: HP:0002069 name: Generalized tonic-clonic seizures alt_id: HP:0001306 alt_id: HP:0002407 alt_id: HP:0007252 def: "Generalized tonic-clonic seizures are generalized seizures with bilateral symmetrical tonic contraction then bilateral clonic contractions of somatic muscles usually associated with autonomic phenomena." [HPO:curators] comment: In a generalized tonic-clonic seizure, the patient suddenly loses conciousness, the eyes roll back, and the entire body musculature undergoes tonic contractions. In the clonic phase of the seizure, there are rhythmic contractions of the musculature alternating with relaxation of all muscle groups. Loss of sphincter control during the seizure is common. This form of seizure was formerly commonly called grand mal seizure. synonym: "Generalised tonic-clonic seizures" EXACT [] synonym: "Generalized clonic-tonic seizures" EXACT [] synonym: "Generalized tonic clonic seizures" EXACT [] synonym: "Grand mal seizures" EXACT layperson [] synonym: "Seizures, generalized tonic-clonic" EXACT [] synonym: "Seizures, generalized, tonic-clonic" EXACT [] synonym: "Seizures, tonic-clonic" EXACT [] synonym: "Tonic-clonic convulsion" EXACT [HPO:skoehler] synonym: "Tonic-clonic convulsions" EXACT [HPO:skoehler] xref: MSH:D012640 xref: SNOMEDCT_US:54200006 xref: UMLS:C0494475 is_a: HP:0002197 ! Generalized-onset seizure [Term] id: HP:0002070 name: Limb ataxia def: "A kind of ataxia that affects movements of the extremities." [HPO:probinson] comment: Limb ataxia is generally caused by lesions of the cerebellar hemispheres and associated pathways. synonym: "Appendicular ataxia" EXACT [] xref: MSH:D001259 xref: UMLS:C0750937 is_a: HP:0001251 ! Ataxia [Term] id: HP:0002071 name: Abnormality of extrapyramidal motor function alt_id: HP:0006810 alt_id: HP:0007113 def: "A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless)." [HPO:probinson] comment: The basal ganglia, paired subcortical masses of grey matter that form distinct nuclei, subserve motor functions that are distinct from those of the pyramidal (i.e., corticospinal) tract. This is a bundled term that is kept for historical reasons, but it is preferable to annotate the precise abnormalities observed. synonym: "Extrapyramidal dysfunction" EXACT [] synonym: "Extrapyramidal signs" EXACT [] synonym: "Extrapyramidal symptoms" EXACT [] synonym: "Extrapyramidal syndrome" EXACT [] synonym: "Extrapyramidal tract signs" EXACT [] xref: MSH:D001480 xref: SNOMEDCT_US:43378000 xref: SNOMEDCT_US:76349003 xref: UMLS:C0015371 xref: UMLS:C0234133 is_a: HP:0011442 ! Abnormality of central motor function [Term] id: HP:0002072 name: Chorea alt_id: HP:0002397 def: "Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities." [HPO:probinson, PMID:20589866] synonym: "Choreatic disease" RELATED [] synonym: "Choreic movements" EXACT [] synonym: "Choreiform movements" EXACT [] xref: MSH:D002819 xref: SNOMEDCT_US:271700006 xref: UMLS:C0008489 xref: UMLS:C4020858 is_a: HP:0004305 ! Involuntary movements [Term] id: HP:0002073 name: Progressive cerebellar ataxia alt_id: HP:0001329 alt_id: HP:0002496 alt_id: HP:0007331 synonym: "Cerebellar ataxia, progressive" EXACT [] synonym: "Progressive ataxia" EXACT [] xref: SNOMEDCT_US:230233000 xref: UMLS:C0393525 is_a: HP:0001251 ! Ataxia [Term] id: HP:0002074 name: Increased neuronal autofluorescent lipopigment def: "Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient." [HPO:probinson, pmid:11406682] synonym: "Neuronal lipopigments" RELATED [] xref: UMLS:C4020857 xref: UMLS:C4025728 is_a: HP:0011813 ! Increased cerebral lipofuscin [Term] id: HP:0002075 name: Dysdiadochokinesis alt_id: HP:0002426 def: "A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible." [HPO:probinson, HPO:zaferyueksel, UKB:tklockgether] comment: Inability to perform rapid, alternating movements. Dysdiadochokinesis is generally related to a cerebellar lesion. synonym: "Difficulty performing quick and alternating movements" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Dysdiadochokinesia" EXACT [] xref: SNOMEDCT_US:23133003 xref: UMLS:C0234979 is_a: HP:0001251 ! Ataxia [Term] id: HP:0002076 name: Migraine alt_id: HP:0007194 def: "Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms." [HPO:probinson, pmid:15304572] synonym: "Intermittent migraine headaches" EXACT layperson [] synonym: "Migraine" EXACT layperson [] synonym: "Migraine headache" EXACT layperson [] synonym: "Migraine headaches" EXACT layperson [] xref: MSH:D008881 xref: SNOMEDCT_US:37796009 xref: UMLS:C0149931 xref: UMLS:C0744641 is_a: HP:0002315 ! Headache [Term] id: HP:0002077 name: Migraine with aura def: "A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession." [HPO:probinson, pmid:15304572] xref: MSH:D020325 xref: SNOMEDCT_US:4473006 xref: UMLS:C0154723 is_a: HP:0002076 ! Migraine [Term] id: HP:0002078 name: Truncal ataxia alt_id: HP:0007014 def: "Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting." [HPO:probinson, UKT:rschuele] comment: Truncal ataxia is generally caused by midline damage to the cerebellar vermis and associated pathways. Patients with truncal ataxia may not be able to sit or stand without support. synonym: "Instability or lack of coordination of central trunk muscles" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Trunk ataxia" EXACT [] xref: MSH:D001259 xref: SNOMEDCT_US:250067008 xref: UMLS:C0427190 is_a: HP:0001251 ! Ataxia [Term] id: HP:0002079 name: Hypoplasia of the corpus callosum alt_id: HP:0002319 alt_id: HP:0007026 def: "Underdevelopment of the corpus callosum." [HPO:probinson, pmid:21263138] comment: The corpus callosum appears thin in midline views of the brain in neuroradiological images. synonym: "Corpus callosum hypoplasia" EXACT [] synonym: "Hypoplasia of corpus callosum" EXACT [] synonym: "Hypoplastic corpus callosum" EXACT [] synonym: "Small corpus callosum" EXACT [] synonym: "Thin corpus callosum" EXACT [] synonym: "Thinning of the corpus callosum" EXACT [] synonym: "Underdevelopment of part of brain called corpus callosum" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:204043002 xref: UMLS:C0344482 is_a: HP:0007370 ! Aplasia/Hypoplasia of the corpus callosum [Term] id: HP:0002080 name: Intention tremor def: "A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger)." [HPO:probinson, pmid:16344298] synonym: "Cerebellar tremor" RELATED [] synonym: "Terminal tremor" RELATED [] xref: MSH:D014202 xref: SNOMEDCT_US:30721006 xref: UMLS:C0234376 xref: UMLS:C4020856 is_a: HP:0030186 ! Kinetic tremor [Term] id: HP:0002083 name: Migraine without aura def: "Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia." [HPO:probinson, pmid:15304572] comment: The definition of this term is based on the definition in the International Classification of Headache Disorders by the International Headache Society (pmid:15304572), which additionally stipulate that such headaches must have occurred at least five times and not other secondary cause must be apparent in order to make the diagnosis. xref: MSH:D020326 xref: SNOMEDCT_US:56097005 xref: UMLS:C0338480 is_a: HP:0002076 ! Migraine [Term] id: HP:0002084 name: Encephalocele alt_id: HP:0002736 alt_id: HP:0100664 def: "A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull." [HPO:probinson] comment: A congenital gap in the skull that usually results in a protrusion of brain material. synonym: "Bifid skull" EXACT [] synonym: "Cranium bifidum" EXACT [] xref: MSH:D004677 xref: SNOMEDCT_US:253101008 xref: SNOMEDCT_US:48777005 xref: SNOMEDCT_US:55999004 xref: UMLS:C0014065 is_a: HP:0002011 ! Morphological abnormality of the central nervous system is_a: HP:0011815 ! Cephalocele [Term] id: HP:0002085 name: Occipital encephalocele alt_id: HP:0007051 alt_id: HP:0007357 def: "A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp." [DDD:awilkie, HPO:probinson] synonym: "Brain tissue sticks out through back of skull" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Occipital meningoencephalocele" EXACT [] synonym: "Posterior encephalocele" EXACT [] xref: MSH:D004677 xref: SNOMEDCT_US:42376006 xref: UMLS:C0014067 is_a: HP:0002084 ! Encephalocele [Term] id: HP:0002086 name: Abnormality of the respiratory system def: "An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles." [HPO:probinson] synonym: "Respiratory abnormality" EXACT [] xref: UMLS:C4018871 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0002087 name: Abnormality of the upper respiratory tract def: "An abnormality of the upper respiratory tract." [HPO:probinson] synonym: "Abnormality of the upper respiratory tract" EXACT layperson [] synonym: "Upper respiratory tract issues" EXACT layperson [] xref: UMLS:C4025727 is_a: HP:0012252 ! Abnormal respiratory system morphology [Term] id: HP:0002088 name: Abnormal lung morphology def: "Any structural anomaly of the lung." [HPO:probinson] synonym: "Abnormality of lung morphology" EXACT layperson [] synonym: "Abnormality of the lungs" EXACT layperson [] synonym: "Abnormally shaped lung" EXACT layperson [] synonym: "Lung disease" RELATED layperson [] synonym: "Unusal lung shape" EXACT layperson [] xref: MSH:D008171 xref: SNOMEDCT_US:19829001 xref: UMLS:C0024115 xref: UMLS:C4021760 is_a: HP:0012252 ! Abnormal respiratory system morphology [Term] id: HP:0002089 name: Pulmonary hypoplasia synonym: "Hypoplastic lung" EXACT [] synonym: "Hypoplastic lungs" EXACT [] synonym: "Lung hypoplasia" EXACT [] synonym: "Small lung" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Underdeveloped lung" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:80825009 xref: UMLS:C0265783 is_a: HP:0006703 ! Aplasia/Hypoplasia of the lungs [Term] id: HP:0002090 name: Pneumonia def: "Inflammation of any part of the lung parenchyma." [HPO:probinson] synonym: "Pneumonia" EXACT layperson [] xref: MSH:D011014 xref: SNOMEDCT_US:233604007 xref: UMLS:C0032285 is_a: HP:0011947 ! Respiratory tract infection is_a: HP:0012649 ! Increased inflammatory response [Term] id: HP:0002091 name: Restrictive ventilatory defect def: "A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus." [] comment: The most commonly used term for this feature is restrictive lung disease, but we choose the term Restrictive ventilatory defect to emphasize that this term refers to a phenotypic feature rather than a disease entity. synonym: "Restrictive lung disease" RELATED [ORCID:0000-0001-5208-3432] synonym: "Stiff lung or chest wall causing decreased lung volume" EXACT layperson [ORCID:0000-0002-6548-5200] xref: SNOMEDCT_US:36485005 xref: UMLS:C0085581 xref: UMLS:C3277226 is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002092 name: Pulmonary arterial hypertension alt_id: HP:0006546 def: "Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position." [HPO:probinson] comment: Pulmonary hypertension can be secondary to known cardiac, pulmonary, or hepatic disease. If no cause is identifiable, the term primary pulmonary hypertension is used. synonym: "Increased blood pressure in blood vessels of lungs" EXACT layperson [orcid.org/0000-0002-6548-5200] synonym: "Primary pulmonary hypertension" RELATED [HPO:skoehler] synonym: "Pulmonary artery hypertension" EXACT [] xref: MSH:D006976 xref: MSH:D065627 xref: SNOMEDCT_US:11399002 xref: SNOMEDCT_US:697898008 xref: SNOMEDCT_US:70995007 xref: UMLS:C0020542 xref: UMLS:C2973725 xref: UMLS:C3203102 is_a: HP:0004890 ! Elevated pulmonary artery pressure [Term] id: HP:0002093 name: Respiratory insufficiency alt_id: HP:0004893 alt_id: HP:0005937 alt_id: HP:0006542 synonym: "progressive respiratory failure" EXACT [] synonym: "Respiratory function loss" RELATED layperson [] synonym: "Respiratory impairment" EXACT layperson [] xref: MSH:D012131 xref: SNOMEDCT_US:409623005 xref: UMLS:C0035229 xref: UMLS:C4020855 is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002094 name: Dyspnea def: "Difficult or labored breathing." [HPO:probinson] synonym: "Trouble breathing" EXACT layperson [] xref: MSH:D004417 xref: SNOMEDCT_US:230145002 xref: SNOMEDCT_US:267036007 xref: UMLS:C0013404 is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002097 name: Emphysema alt_id: HP:0006534 synonym: "Pulmonary emphysema" EXACT [] xref: MSH:D011656 xref: SNOMEDCT_US:87433001 xref: UMLS:C0034067 is_a: HP:0002088 ! Abnormal lung morphology [Term] id: HP:0002098 name: Respiratory distress alt_id: HP:0002880 def: "Difficulty in breathing. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea." [] synonym: "Breathing difficulties" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Difficulty breathing" EXACT layperson [] synonym: "Respiratory difficulties" EXACT [] synonym: "Short of breath" RELATED layperson [] synonym: "Shortness of breath" RELATED layperson [] xref: MSH:D004417 xref: SNOMEDCT_US:230145002 xref: SNOMEDCT_US:267036007 xref: SNOMEDCT_US:271825005 xref: UMLS:C0013404 xref: UMLS:C0476273 is_a: HP:0002094 ! Dyspnea [Term] id: HP:0002099 name: Asthma alt_id: HP:0002112 def: "Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing." [HPO:probinson] synonym: "Asthma" EXACT layperson [] synonym: "Bronchial asthma" EXACT [] synonym: "Reactive airway disease" RELATED [] xref: MSH:D001249 xref: SNOMEDCT_US:195967001 xref: SNOMEDCT_US:991000119106 xref: UMLS:C0004096 xref: UMLS:C3714497 is_a: HP:0002795 ! Functional respiratory abnormality is_a: HP:0100326 ! Immunologic hypersensitivity [Term] id: HP:0002100 name: Recurrent aspiration pneumonia alt_id: HP:0002106 def: "Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia." [HPO:probinson] xref: SNOMEDCT_US:430969000 xref: UMLS:C0747651 is_a: HP:0011951 ! Aspiration pneumonia [Term] id: HP:0002101 name: Abnormal lung lobation alt_id: HP:0006525 alt_id: HP:0009753 def: "Defects in the formation of pulmonary lobules." [HPO:probinson] synonym: "Defective lung lobation" EXACT [] synonym: "Lung segmentation defects" EXACT [] xref: SNOMEDCT_US:91842005 xref: UMLS:C0685695 is_a: HP:0002088 ! Abnormal lung morphology [Term] id: HP:0002102 name: Pleuritis def: "Inflammation of the pleura." [HPO:sdoelken] synonym: "Inflammation of tissues lining lungs and chest" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Pleurisy" EXACT [HPO:sdoelken] xref: MSH:D010998 xref: SNOMEDCT_US:196075003 xref: UMLS:C0032231 is_a: HP:0002103 ! Abnormality of the pleura [Term] id: HP:0002103 name: Abnormality of the pleura def: "An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls." [HPO:probinson] xref: UMLS:C4025726 is_a: HP:0002088 ! Abnormal lung morphology [Term] id: HP:0002104 name: Apnea alt_id: HP:0005936 alt_id: HP:0005958 def: "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event." [HPO:curators] synonym: "Absence of spontaneous respiration" EXACT [] synonym: "Apneic episodes" EXACT [] synonym: "Apnoea" EXACT [] xref: MSH:D001049 xref: SNOMEDCT_US:1023001 xref: SNOMEDCT_US:248583008 xref: UMLS:C0003578 is_a: HP:0002793 ! Abnormal pattern of respiration [Term] id: HP:0002105 name: Hemoptysis def: "Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs." [HPO:probinson] synonym: "Coughing up blood" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Coughing up blood or blood-stained mucus" RELATED layperson [] synonym: "Haemoptysis" EXACT HP:0045076 [] xref: MSH:D006469 xref: SNOMEDCT_US:66857006 xref: SNOMEDCT_US:6686005 xref: UMLS:C0019079 is_a: HP:0032016 ! Abnormal sputum [Term] id: HP:0002107 name: Pneumothorax def: "Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung." [HPO:probinson] synonym: "Collapsed lung" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D011030 xref: SNOMEDCT_US:36118008 xref: UMLS:C0032326 is_a: HP:0002088 ! Abnormal lung morphology [Term] id: HP:0002108 name: Spontaneous pneumothorax def: "Pneumothorax occurring without traumatic injury to the chest or lung." [HPO:probinson] synonym: "Spontaneous collapsed lung" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:D011030 xref: SNOMEDCT_US:80423007 xref: UMLS:C0149781 is_a: HP:0002107 ! Pneumothorax [Term] id: HP:0002109 name: obsolete Abnormality of the bronchi is_obsolete: true replaced_by: HP:0025426 [Term] id: HP:0002110 name: Bronchiectasis def: "Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways." [HPO:probinson] synonym: "Permanent enlargement of the airways of the lungs" EXACT layperson [orcid.org/0000-0002-6548-5200] xref: MSH:D001987 xref: SNOMEDCT_US:12295008 xref: UMLS:C0006267 is_a: HP:0025426 ! Abnormal bronchus morphology [Term] id: HP:0002111 name: Restrictive deficit on pulmonary function testing def: "FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent." [NIHR:ldaugherty] synonym: "Restrictive deficit on pulmonary function tests" EXACT [] synonym: "Restrictive respiratory disease" EXACT [] synonym: "Restrictive respiratory insufficiency'" EXACT [] synonym: "Restrictive respiratory syndrome" EXACT [] xref: UMLS:C1609528 is_a: HP:0002091 ! Restrictive ventilatory defect is_a: HP:0002093 ! Respiratory insufficiency is_a: HP:0032340 ! Abnormal spirometry test [Term] id: HP:0002113 name: Pulmonary infiltrates synonym: "Lung infiltrates" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Pulmonic infiltration" EXACT [] xref: UMLS:C0235896 is_a: HP:0002088 ! Abnormal lung morphology [Term] id: HP:0002118 name: Abnormality of the cerebral ventricles def: "Abnormality of the cerebral ventricles." [HPO:probinson] xref: UMLS:C4025724 is_a: HP:0012443 ! Abnormality of brain morphology [Term] id: HP:0002119 name: Ventriculomegaly alt_id: HP:0002447 alt_id: HP:0005691 alt_id: HP:0007071 def: "An increase in size of the ventricular system of the brain." [HPO:probinson] synonym: "Cerebral ventricular dilatation" EXACT [] synonym: "Dilated cerebral ventricle" EXACT [] synonym: "Dilated cerebral ventricles" EXACT [] synonym: "Dilated ventricles" EXACT [] synonym: "Enlarged cerebral ventricles" EXACT [] synonym: "Enlarged ventricles" EXACT [] synonym: "Enlarged ventricular system" EXACT [] synonym: "Large cerebral ventricles and cisternae" EXACT [] synonym: "Ventricular dilatation" EXACT [] xref: UMLS:C3278923 is_a: HP:0002118 ! Abnormality of the cerebral ventricles [Term] id: HP:0002120 name: Cerebral cortical atrophy alt_id: HP:0006823 alt_id: HP:0006835 def: "Atrophy of the cortex of the cerebrum." [HPO:probinson] comment: Cortical atrophy is a finding that can be demonstrated by computer tomography or magnetic resonance imaging. synonym: "Cerebral cortex atrophy" EXACT [] synonym: "Cortical atrophy" EXACT [] synonym: "Decrease in size of the outer layer of the brain due to loss of brain cells" EXACT layperson [orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:278849000 xref: UMLS:C0235946 is_a: HP:0002059 ! Cerebral atrophy [Term] id: HP:0002121 name: Absence seizure alt_id: HP:0007143 alt_id: HP:0011148 def: "Absence seizures present with a sudden cessation of activity and awareness. Absence seizures tend to occur in younger age groups, have more sudden start and termination, and they usually display less complex automatisms than do focal seizures with impaired awareness, but the distinctions are not absolute." [HPO:probinson, PMID:28276062, PMID:28276064] synonym: "Absence seizures" EXACT HP:0045078 [] synonym: "Brief seizures with staring spells" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Petit mal seizure" EXACT [] synonym: "Petit mal seizures" EXACT HP:0045078 [] xref: MSH:D004832 xref: SNOMEDCT_US:230413002 xref: SNOMEDCT_US:432241000124101 xref: SNOMEDCT_US:50866000 xref: SNOMEDCT_US:79631006 xref: UMLS:C0014553 is_a: HP:0002197 ! Generalized-onset seizure [Term] id: HP:0002123 name: Generalized myoclonic seizures alt_id: HP:0006869 alt_id: HP:0006902 alt_id: HP:0007075 alt_id: HP:0007202 alt_id: HP:0007284 alt_id: HP:0007294 def: "Seizures with sudden, brief (< 100 msec) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal)." [HPO:jalbers] synonym: "Myoclonic epilepsy, progressive" RELATED [] synonym: "Myoclonic seizures" BROAD [] synonym: "Myoclonus seizures" EXACT [] xref: MSH:D004831 xref: MSH:D020191 xref: SNOMEDCT_US:192992007 xref: SNOMEDCT_US:267581004 xref: SNOMEDCT_US:37356005 xref: UMLS:C0014550 xref: UMLS:C0751778 xref: UMLS:C4021759 is_a: HP:0002197 ! Generalized-onset seizure [Term] id: HP:0002126 name: Polymicrogyria def: "Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds)." [COST:neuromig, HPO:probinson, PMID:24888723] comment: Polymicrogyria, one of the most common malformations of cortical development, is characterized histologically by the appearance of an excessive number of small cortical folds, often fused together, with disordered cortical lamination. synonym: "More grooves in brain" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D065706 xref: SNOMEDCT_US:4945003 xref: UMLS:C0266464 is_a: HP:0002536 ! Abnormal cortical gyration [Term] id: HP:0002127 name: Abnormal upper motor neuron morphology def: "Any structural anomaly that affects the upper motor neuron." [] comment: previous def: 'has part' some \n(quality and ('inheres in' some 'Upper motor neuron (adult human)') and ('has modifier' some abnormal)) synonym: "Abnormal shape of upper motor neuron" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025723 is_a: HP:0002450 ! Abnormal motor neuron morphology [Term] id: HP:0002131 name: Episodic ataxia alt_id: HP:0006862 alt_id: HP:0007152 alt_id: HP:0007214 def: "Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days.\n" [HPO:probinson] synonym: "Intermittent cerebellar ataxia" EXACT [] synonym: "Paroxysmal ataxia" EXACT [] xref: MSH:C580065 xref: SNOMEDCT_US:421455009 xref: UMLS:C1720189 is_a: HP:0001251 ! Ataxia [Term] id: HP:0002132 name: Porencephalic cyst def: "A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system." [HPO:probinson, PMID:9279052] comment: Porencephaly is usually the result of damage from stroke or infection after birth, but may also be the result of a developmental defect. Porencephaly is often associated with various ophthalmic and neurologic signs, including visual-field defects, abnormal pupillary responses, optic nerve hypoplasia, decreased vision, nystagmus, strabismus, hemi-inattention, seizures, and mental deficiencies. synonym: "Cavity within brain" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:D065708 xref: UMLS:C4082173 is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0002133 name: Status epilepticus def: "Seizures lasting for more than 30 minutes or longer or multiple seizures repeated frequently without regaining consciousness between seizures." [HPO:jalbers] synonym: "Repeated seizures without recovery between them" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:D013226 xref: SNOMEDCT_US:230456007 xref: UMLS:C0038220 is_a: HP:0001250 ! Seizures [Term] id: HP:0002134 name: Abnormality of the basal ganglia alt_id: HP:0006952 alt_id: HP:0007257 def: "Abnormality of the basal ganglia." [HPO:probinson] comment: The basal ganglia are a group of nuclei (striatum, pallidum substantia nigra, and the subthalamic nucleus) at the base of the forebrain that are connected to the cerebral cortex, the thalamus, and other areas. The basal ganglia subserve motor functions that are distinct from those of the pyramidal (corticospinal) tract, for which reason neurologic abnormalities caused by lesions to the basal ganglia are often referred to as extrapyramidal. synonym: "Anomaly of the basal ganglia" EXACT [] synonym: "Basal ganglia disease" EXACT [] xref: MSH:D001480 xref: SNOMEDCT_US:70835005 xref: UMLS:C0004782 is_a: HP:0010993 ! Abnormality of the cerebral subcortex [Term] id: HP:0002135 name: Basal ganglia calcification alt_id: HP:0002485 def: "The presence of calcium deposition affecting one or more structures of the basal ganglia." [HPO:probinson] synonym: "Basal ganglia calcifications" EXACT [] synonym: "Basal ganglion calcification" EXACT [] synonym: "Calcification of the basal ganglia" EXACT [] xref: UMLS:C1389280 is_a: HP:0002134 ! Abnormality of the basal ganglia is_a: HP:0002514 ! Cerebral calcification [Term] id: HP:0002136 name: Broad-based gait def: "An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia." [HPO:curators] synonym: "Broad based gait" EXACT [] synonym: "Wide based gait" EXACT [] synonym: "Wide based walk" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide-based gait" EXACT [] xref: UMLS:C0856863 is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002138 name: Subarachnoid hemorrhage def: "Hemorrhage occurring between the arachnoid mater and the pia mater." [HPO:sdoelken] comment: Bleeding into the subarachnoid space the area between the arachnoid membrane and the pia mater surrounding the brain. Subarachnoid hemorrhage may occur spontaneously, usually from a ruptured cerebral aneurysm, or may result from head injury. synonym: "Subarachnoid haemorrhage" EXACT [] xref: MSH:D013345 xref: SNOMEDCT_US:21454007 xref: UMLS:C0038525 is_a: HP:0002170 ! Intracranial hemorrhage is_a: HP:0012703 ! Abnormal subarachnoid space morphology [Term] id: HP:0002139 name: Arrhinencephaly xref: MSH:D016142 xref: UMLS:C0078982 is_a: HP:0002323 ! Anencephaly [Term] id: HP:0002140 name: Ischemic stroke xref: SNOMEDCT_US:422504002 xref: UMLS:C0948008 is_a: HP:0001297 ! Stroke is_a: HP:0002637 ! Cerebral ischemia [Term] id: HP:0002141 name: Gait imbalance alt_id: HP:0100683 synonym: "Abnormality of balance" EXACT layperson [] synonym: "Abnormality of equilibrium" EXACT layperson [] synonym: "Imbalanced walk" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1836150 is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002143 name: Abnormality of the spinal cord def: "An abnormality of the spinal cord (myelon)." [HPO:probinson] synonym: "Abnormality of the spinal cord" EXACT layperson [] synonym: "Spinal cord disease" RELATED layperson [] synonym: "Spinal cord pathology" RELATED [] xref: MSH:D013118 xref: SNOMEDCT_US:48522003 xref: UMLS:C0037928 xref: UMLS:C4025722 is_a: HP:0002011 ! Morphological abnormality of the central nervous system [Term] id: HP:0002144 name: Tethered cord def: "During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord." [HPO:curators] synonym: "Occult spinal dysraphism" EXACT [ORCID:0000-0001-5208-3432] xref: MSH:D009436 xref: SNOMEDCT_US:70534000 xref: UMLS:C0080218 is_a: HP:0031938 ! Abnormal conus terminalis morphology [Term] id: HP:0002145 name: Frontotemporal dementia def: "A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders." [HPO:probinson, pmid:24966676] xref: MSH:D057180 xref: SNOMEDCT_US:230270009 xref: UMLS:C0338451 is_a: HP:0000726 ! Dementia [Term] id: HP:0002148 name: Hypophosphatemia def: "An abnormally decreased phosphate concentration in the blood." [HPO:gcarletti] synonym: "Hypophosphataemia" EXACT [] synonym: "Low blood phosphate level" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D017674 xref: SNOMEDCT_US:4996001 xref: UMLS:C0085682 is_a: HP:0100529 ! Abnormal blood phosphate concentration [Term] id: HP:0002149 name: Hyperuricemia def: "An abnormally high level of uric acid in the blood." [HPO:probinson] synonym: "High blood uric acid level" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hyperuricaemia" EXACT [] xref: MSH:D033461 xref: SNOMEDCT_US:35885006 xref: UMLS:C0740394 is_a: HP:0002157 ! Azotemia is_a: HP:0004368 ! Increased purine level [Term] id: HP:0002150 name: Hypercalciuria synonym: "Elevated urine calcium levels" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hypercalcinuria" EXACT [] xref: MSH:D053565 xref: SNOMEDCT_US:71938000 xref: UMLS:C0020438 is_a: HP:0011280 ! Abnormality of urine calcium concentration [Term] id: HP:0002151 name: Increased serum lactate alt_id: HP:0003638 def: "Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35)." [HPO:probinson, PMID:24079682] synonym: "Higher than normal levels of lactate in blood" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Increased blood lactate" EXACT [] xref: UMLS:C1836440 is_a: HP:0001941 ! Acidosis [Term] id: HP:0002152 name: Hyperproteinemia def: "An increased concentration of proteins in the blood." [HPO:gcarletti] xref: SNOMEDCT_US:37064009 xref: UMLS:C0267988 is_a: HP:0010876 ! Abnormal circulating protein level [Term] id: HP:0002153 name: Hyperkalemia def: "An abnormally increased potassium concentration in the blood." [HPO:probinson] synonym: "Elevated serum potassium levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D006947 xref: SNOMEDCT_US:14140009 xref: SNOMEDCT_US:166689004 xref: SNOMEDCT_US:238142003 xref: UMLS:C0020461 is_a: HP:0011042 ! Abnormal blood potassium concentration [Term] id: HP:0002154 name: Hyperglycinemia def: "An elevated concentration of glycine in the blood." [HPO:gcarletti, pmid:16902722, pmid:4696900] comment: Normal blood glycine levels are around 200-250 micromole per liter. synonym: "Elevated blood glycine levels" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hyperglycinaemia" EXACT [] xref: SNOMEDCT_US:64654004 xref: UMLS:C0268559 is_a: HP:0010895 ! Abnormal circulating glycine concentration [Term] id: HP:0002155 name: Hypertriglyceridemia alt_id: HP:0003082 alt_id: HP:0008174 alt_id: HP:0008332 def: "An abnormal increase in the level of triglycerides in the blood." [HPO:probinson] synonym: "Increased circulating Tg levels" EXACT HP:0045077 [] synonym: "Increased plasma Tg levels" EXACT HP:0045077 [] synonym: "Increased plasma triglycerides" EXACT layperson [] synonym: "Increased serum triglycerides" EXACT layperson [] synonym: "Increased triglycerides" EXACT layperson [] xref: UMLS:C1522137 is_a: HP:0003077 ! Hyperlipidemia [Term] id: HP:0002156 name: Homocystinuria def: "An increased concentration of homocystine in the urine." [HPO:gcarletti] comment: Homocystine is a disulfide derivate of homocysteine (a precursor of cysteine). Patients with homocystinuria have a clinical phenotype similar to that of patients affected by Marfan syndrome (pectus excavatum, dislocated lenses, etc). This term does not describe the disease entity, but rather the finding of an increased concentration of homocystine in urine, which can be easily detected by a sensitive test for disulphide compounds (the cyanide-nitroprusside reaction) and using chromatographic techniques. Homocystinuria can be caused by biochemical defects including cystathionine B-synthase deficiency, N5-methyltetrahydrofolate:homocystine methyltransferase deficiency, N5,10-methylentetrahydrofolate reductase deficiency, and methhylcobalamin deficiency. synonym: "High urine homocystine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D006712 xref: SNOMEDCT_US:11282001 xref: UMLS:C0019880 is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0002157 name: Azotemia def: "An increased concentration of nitrogen compounds in the blood." [HPO:gcarletti] comment: Abnormal levels of nitrogen-containing compounds, such as urea and creatinine. synonym: "Azotaemia" EXACT [] xref: MSH:D053099 xref: SNOMEDCT_US:445009001 xref: UMLS:C0242528 is_a: HP:0004364 ! Abnormal circulating nitrogen compound concentration [Term] id: HP:0002159 name: Heparan sulfate excretion in urine def: "An increased concentration of heparan sulfates in the urine." [HPO:probinson] xref: UMLS:C1854827 is_a: HP:0008155 ! Mucopolysacchariduria [Term] id: HP:0002160 name: Hyperhomocystinemia def: "An increased concentration of homocystine in the blood." [HPO:gcarletti] comment: Homocystine is a disulfide derivative of homocysteine (a precursor of cysteine).\nHyperhomocystinemic patients show blood homocystine levels in the range of 50-200 micromolar. synonym: "Elevated blood homocystine" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Homocystinemia" EXACT [] xref: UMLS:C3806347 is_a: HP:0010919 ! Abnormal circulating homocysteine concentration [Term] id: HP:0002161 name: Hyperlysinemia def: "An increased concentration of lysine in the blood." [HPO:gcarletti, pmid:4696900] comment: Normal blood lysine levels are around 180-200 micromole per liter. synonym: "Elevated blood lysine" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D020167 xref: SNOMEDCT_US:58558003 xref: UMLS:C0268553 is_a: HP:0010908 ! Abnormal circulating lysine concentration [Term] id: HP:0002162 name: Low posterior hairline def: "Hair on the neck extends more inferiorly than usual." [pmid:19125436] comment: This feature is often seen in later childhood, as the neck lengthens, in an individual who was born with redundant nuchal skin, which should be assessed and coded separately. subset: hposlim_core synonym: "Low hairline at back of neck" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Low posterior hair line" EXACT [] xref: UMLS:C1855728 is_a: HP:0000464 ! Abnormality of the neck is_a: HP:0030141 ! Abnormality of the posterior hairline [Term] id: HP:0002164 name: Nail dysplasia alt_id: HP:0001793 alt_id: HP:0001794 alt_id: HP:0001797 alt_id: HP:0008387 alt_id: HP:0008403 alt_id: HP:0008409 alt_id: HP:0008412 def: "The presence of developmental dysplasia of the nail." [HPO:probinson] synonym: "Atypical nail growth" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Dysplastic nails" EXACT [] synonym: "Onychodysplasia" EXACT [] xref: UMLS:C1834405 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0002165 name: Pterygium of nails def: "Inward advance of skin over the nail plate." [HPO:probinson] xref: SNOMEDCT_US:110987009 xref: UMLS:C0406438 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0002166 name: Impaired vibration sensation in the lower limbs def: "A decrease in the ability to perceive vibration in the legs." [HPO:curators] synonym: "Decreased lower limb vibratory sense" EXACT layperson [] synonym: "Decreased vibratory sense in lower limbs" EXACT layperson [] synonym: "Decreased vibratory sense in the lower extremities" EXACT layperson [] synonym: "Decreased vibratory sense in the lower limbs" EXACT layperson [] synonym: "Diminished vibratory sensation in the legs" EXACT layperson [] synonym: "Distal sensory loss, especially vibratory sense" EXACT [] synonym: "Distal vibratory impairment of the lower limbs" EXACT [] synonym: "Impaired vibration sensation in the lower limbs" EXACT layperson [] xref: UMLS:C1849134 is_a: HP:0002495 ! Impaired vibratory sensation [Term] id: HP:0002167 name: Neurological speech impairment synonym: "Speech disorder" EXACT layperson [] synonym: "Speech impairment" EXACT layperson [] synonym: "Speech impediment" EXACT layperson [] xref: MSH:D013064 xref: UMLS:C0037822 is_a: HP:0011446 ! Abnormality of higher mental function [Term] id: HP:0002168 name: Scanning speech synonym: "Explosive speech" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:102935005 xref: SNOMEDCT_US:77420001 xref: UMLS:C0278184 xref: UMLS:C0522198 is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002169 name: Clonus def: "A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch." [HPO:probinson] comment: Clonus is a manifestation of spasticity that can occur with lesions of the corticospinal tract. Only sustained clonus (5 beats or more) is considered abnormal. synonym: "Involuntary rhythmic muscular contractions and relaxations" EXACT [http://purl.obolibrary.org/obo/hp.owl#layperson, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:36649002 xref: UMLS:C0009024 is_a: HP:0001347 ! Hyperreflexia is_a: HP:0004305 ! Involuntary movements [Term] id: HP:0002170 name: Intracranial hemorrhage def: "Hemorrhage occurring within the skull." [HPO:gcarletti] synonym: "Bleeding within the skull" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D020300 xref: SNOMEDCT_US:1386000 xref: UMLS:C0151699 is_a: HP:0011029 ! Internal hemorrhage is_a: HP:0100659 ! Abnormality of the cerebral vasculature [Term] id: HP:0002171 name: Gliosis def: "Gliosis is the focal proliferation of glial cells in the central nervous system." [HPO:sdoelken] comment: Gliosis generally occurs as a response to tissue damage. Gliosis appears bright on T2 scans upon magnetic resonance imaging, unlike encephalomalacia which follows CSF signal on all sequences. Glial cells, the non-neuronal component of the central nervous system, are divided into microglia and macroglia. The latter are in turn divided into astrocytes, oligodendrocytes, and ependymal cells. The astrocytes and the microglia are the glial cells predominantly responsible for tissue response to injury. synonym: "Cerebral gliosis" EXACT [] synonym: "Excess astrocytes in brain" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D005911 xref: SNOMEDCT_US:359580009 xref: SNOMEDCT_US:81415000 xref: UMLS:C0017639 is_a: HP:0100705 ! Abnormality of the glial cells [Term] id: HP:0002172 name: Postural instability def: "A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps." [PMID:25613349] synonym: "Abnormal retropulsion test" RELATED [] synonym: "Balance impairment" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Imbalance" RELATED [] xref: UMLS:C1843921 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002173 name: Hypoglycemic seizures xref: UMLS:C0877056 is_a: HP:0001943 ! Hypoglycemia is_a: HP:0011145 ! Symptomatic seizures [Term] id: HP:0002174 name: Postural tremor alt_id: HP:0006925 alt_id: HP:0007197 def: "A type of tremors that is triggered by holding a limb in a fixed position." [HPO:probinson] synonym: "Tremor, postural" RELATED [HPO:skoehler] xref: MSH:D014202 xref: SNOMEDCT_US:56610005 xref: UMLS:C0234378 is_a: HP:0002345 ! Action tremor [Term] id: HP:0002176 name: Spinal cord compression def: "External mechanical compression of the spinal cord." [HPO:probinson] comment: Clinical abnormalities vary according to the site of the compression\nany may comprise pain, weakness, sensory loss, incontinence, and impotence. The compression may be caused by fractures of the spine, neoplasms, abscesses, and other factors. synonym: "Pressure on spinal cord" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:D013117 xref: SNOMEDCT_US:71286001 xref: UMLS:C0037926 is_a: HP:0002143 ! Abnormality of the spinal cord [Term] id: HP:0002179 name: Opisthotonus comment: Severe hyperextension and spasticity in which an individual's head, neck and spinal column arch posteriorly. {xref="PMID:29972427"} synonym: "Opisthotonos" EXACT [] xref: SNOMEDCT_US:8652009 xref: UMLS:C0151818 is_a: HP:0001257 ! Spasticity [Term] id: HP:0002180 name: Neurodegeneration def: "Progressive loss of neural cells and tissue." [HPO:probinson] synonym: "Neuro-degenerative disease" RELATED [] synonym: "Neurodegenerative disease" RELATED [] synonym: "Ongoing loss of nerve cells" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Progressive neurodegenerative disorder" RELATED [] xref: MSH:D009410 xref: MSH:D019636 xref: UMLS:C0027746 xref: UMLS:C0524851 xref: UMLS:C4020854 is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system [Term] id: HP:0002181 name: Cerebral edema def: "Abnormal accumulation of fluid in the brain." [HPO:probinson] comment: Cerebral edema refers to swelling within brain tissue due to the accumulation of fluid, and can occur as in response to almost any insulting agent. Edema canbe observed in and around regions of dead or dying brain, around metastases and abscesses, after traumatic injury, following hypoxic ischemic injury, and around primary brain tumors. There are at least five different types of edema: vasogenic, cytotoxic, hydrostatic, interstitial, and hypoosmotic. Three effects of edema are visible on imaging: (i) loss of gray-white matter differentiation; (ii) swelling of sulci (shrinking of gyri); and (iii) mass effects. On CT scanning, extensive low density may represent vasogenic edema. As the brain swells, not only do the sulci decrease, but all of the CSF spaces of the hemispheres (including the ventricles) decrease as well. Magnetic resonance tomography may show abnormalities of diffusion-weighted imaging (DWI), and Fluid attenuation inversion recovery (FLAIR) sequences. Phenotype terms involving cerebral edema thus reflect inference about the underlying processes responsible for these abnormalities on brain imaging. synonym: "Brain edema" EXACT [] synonym: "Brain oedema" EXACT [] synonym: "Brain swelling" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Swelling of brain" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D001929 xref: SNOMEDCT_US:2032001 xref: UMLS:C0006114 xref: UMLS:C1527311 is_a: HP:0000969 ! Edema is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0002183 name: Phonophobia def: "An abnormally heightened sensitivity to loud sounds." [HPO:probinson] comment: Hyperacusis refers to a general hypersensitivity to sound of any frequency, and phonophobia to an anxious sensitivity towards specific sound largely independent of its volume. Hyperacusis and phonophobia represent disturbances of central auditory processing without peripheral pathology, often combined with psychosomatic reactions. Phonophobia is generally used to refer to discomfort caused by loud sounds rather than 'fear' of sounds as the etymology of the word might suggest. synonym: "Fear of loud sounds" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D012001 xref: SNOMEDCT_US:313387002 xref: UMLS:C0751466 is_a: HP:0025112 ! Sound sensitivity [Term] id: HP:0002185 name: Neurofibrillary tangles alt_id: HP:0003132 alt_id: HP:0007070 def: "Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form." [HPO:sdoelken] synonym: "Neurofibrillary tangles composed of disordered microtubules in neurons" EXACT [] synonym: "Paired helical filaments" EXACT [] xref: MSH:D016874 xref: SNOMEDCT_US:85775002 xref: UMLS:C0085400 is_a: HP:0100314 ! Cerebral inclusion bodies [Term] id: HP:0002186 name: Apraxia def: "A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements." [HPO:probinson] synonym: "Apraxias" RELATED [] xref: MSH:D001072 xref: SNOMEDCT_US:68345001 xref: SNOMEDCT_US:6950007 xref: UMLS:C0003635 is_a: HP:0011442 ! Abnormality of central motor function is_a: HP:0011446 ! Abnormality of higher mental function [Term] id: HP:0002187 name: Intellectual disability, profound def: "Profound mental retardation is defined as an intelligence quotient (IQ) below 20." [HPO:probinson] comment: Persons with profound mental retardation generally require constant care. synonym: "IQ less than 20" EXACT layperson [https://www.merckmanuals.com/home/children-s-health-issues/learning-and-developmental-disorders/intellectual-disability] synonym: "Mental retardation, profound" EXACT [] synonym: "Profound mental retardation" EXACT [] xref: MSH:D008607 xref: SNOMEDCT_US:31216003 xref: UMLS:C0020796 xref: UMLS:C3161330 is_a: HP:0001249 ! Intellectual disability [Term] id: HP:0002188 name: Delayed CNS myelination alt_id: HP:0005770 alt_id: HP:0006974 alt_id: HP:0007300 def: "Delayed myelination in the central nervous system." [HPO:probinson] comment: A delay in the process of myelination, which normally begins in the fifth fetal month and is about 90 percent complete at the age of two years. Myelination continues into early adulthood. synonym: "Delay in central nervous system myelination" EXACT [] xref: UMLS:C4021758 is_a: HP:0011400 ! Abnormal CNS myelination is_a: HP:0012448 ! Delayed myelination [Term] id: HP:0002189 name: Excessive daytime sleepiness synonym: "Excessive daytime sleepiness" EXACT layperson [] xref: UMLS:C0694563 is_a: HP:0002360 ! Sleep disturbance is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0002190 name: Choroid plexus cyst def: "A cyst occurring within the choroid plexus within a cerebral ventricle." [HPO:probinson] comment: Choroid plexus cysts can be observed on prenatal ultrasound examinations and are associated with a weakly increased risk for fetal chromosome abnormalities such as trisomy 18. xref: SNOMEDCT_US:230790004 xref: UMLS:C0338597 is_a: HP:0007376 ! Abnormality of the choroid plexus [Term] id: HP:0002191 name: Progressive spasticity def: "Spasticity that increases in degree with time." [HPO:probinson] synonym: "Spasticity, progressive" EXACT [] xref: UMLS:C1859520 is_a: HP:0001257 ! Spasticity [Term] id: HP:0002193 name: Pseudobulbar behavioral symptoms def: "Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc." [HPO:sdoelken] xref: UMLS:C4025720 is_a: HP:0000708 ! Behavioral abnormality is_a: HP:0002200 ! Pseudobulbar signs [Term] id: HP:0002194 name: Delayed gross motor development alt_id: HP:0006905 alt_id: HP:0007046 alt_id: HP:0008973 def: "A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling." [HPO:probinson] synonym: "Delayed gross motor skills" EXACT [] synonym: "Delayed motor skills" EXACT layperson [] synonym: "Developmental delay, gross motor" EXACT [] synonym: "Gross motor delay" EXACT [] synonym: "Limited gross motor development" EXACT [] xref: SNOMEDCT_US:430099007 xref: UMLS:C1837658 is_a: HP:0001270 ! Motor delay [Term] id: HP:0002195 name: Dysgenesis of the cerebellar vermis def: "Defective development of the vermis of cerebellum." [HPO:probinson] comment: Note that the term cerebellar dysgenesis is generally used to refer to a morphological abnormality of the cerebellum that is of presumed developmental (rather than acquired) origin,and is often diagnosed by means of magnetic resonance tomography. xref: UMLS:C4025719 is_a: HP:0002334 ! Abnormality of the cerebellar vermis [Term] id: HP:0002196 name: Myelopathy xref: MSH:D013118 xref: SNOMEDCT_US:48522003 xref: UMLS:C0037928 is_a: HP:0002143 ! Abnormality of the spinal cord [Term] id: HP:0002197 name: Generalized-onset seizure alt_id: HP:0002409 alt_id: HP:0007114 alt_id: HP:0007339 def: "Seizures of with initial involvement of both cerebral hemispheres." [HPO:probinson] comment: Generalized seizures are sub-categorized into several major types: generalized tonic clonic; myoclonic; absence; and atonic. synonym: "Generalized seizures" EXACT HP:0045078 [] synonym: "Generalized-onset seizures" EXACT HP:0045078 [] xref: MSH:D012640 xref: SNOMEDCT_US:246545002 xref: UMLS:C0234533 xref: UMLS:C1833488 is_a: HP:0001250 ! Seizures [Term] id: HP:0002198 name: Dilated fourth ventricle alt_id: HP:0007223 def: "An abnormal dilatation of the fourth cerebral ventricle." [HPO:probinson] synonym: "Enlarged fourth ventricle" EXACT [] xref: UMLS:C1847117 is_a: HP:0002119 ! Ventriculomegaly is_a: HP:0010950 ! Abnormality of the fourth ventricle [Term] id: HP:0002199 name: Hypocalcemic seizures synonym: "Low calcium seizures" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Seizures due to hypocalcemia" EXACT [] xref: UMLS:C1855841 is_a: HP:0002901 ! Hypocalcemia is_a: HP:0011145 ! Symptomatic seizures [Term] id: HP:0002200 name: Pseudobulbar signs def: "Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc." [HPO:sdoelken] synonym: "Pseudobulbar symptoms" EXACT [] xref: UMLS:C1838579 is_a: HP:0012638 ! Abnormality of nervous system physiology [Term] id: HP:0002202 name: Pleural effusion def: "The presence of an excessive amount of fluid in the pleural cavity." [HPO:probinson] synonym: "Fluid around lungs" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:D010996 xref: SNOMEDCT_US:60046008 xref: UMLS:C0032227 is_a: HP:0000969 ! Edema is_a: HP:0002103 ! Abnormality of the pleura [Term] id: HP:0002203 name: Respiratory paralysis def: "Inability to move the muscles of respiration." [HPO:probinson] xref: MSH:D012133 xref: SNOMEDCT_US:64228003 xref: UMLS:C0035232 is_a: HP:0003470 ! Paralysis is_a: HP:0004347 ! Weakness of muscles of respiration [Term] id: HP:0002204 name: Pulmonary embolism def: "An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery." [] synonym: "Blood clot in artery of lung" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:D011655 xref: SNOMEDCT_US:59282003 xref: UMLS:C0034065 is_a: HP:0030875 ! Abnormality of pulmonary circulation [Term] id: HP:0002205 name: Recurrent respiratory infections alt_id: HP:0002782 alt_id: HP:0002873 def: "An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections." [HPO:probinson] synonym: "Frequent respiratory infections" EXACT layperson [] synonym: "Multiple respiratory infections" EXACT layperson [] synonym: "Recurrent respiratory infections" EXACT layperson [] synonym: "respiratory infections, recurrent" EXACT layperson [HPO:skoehler] synonym: "Susceptibility to respiratory infections" EXACT layperson [] xref: UMLS:C3806482 is_a: HP:0002719 ! Recurrent infections is_a: HP:0011947 ! Respiratory tract infection [Term] id: HP:0002206 name: Pulmonary fibrosis alt_id: HP:0006523 def: "Replacement of normal lung tissues by fibroblasts and collagen." [DDD:tkuijpers, HPO:probinson] comment: Pulmonary fibrosis leads to an irreversible impairment of alveolar oxygen transfer. xref: MSH:D011658 xref: SNOMEDCT_US:51615001 xref: UMLS:C0034069 is_a: HP:0002088 ! Abnormal lung morphology [Term] id: HP:0002207 name: Diffuse reticular or finely nodular infiltrations xref: UMLS:C1843428 is_a: HP:0002113 ! Pulmonary infiltrates [Term] id: HP:0002208 name: Coarse hair alt_id: HP:0200078 def: "Hair shafts are rough in texture." [HPO:probinson] subset: hposlim_core synonym: "Coarse hair" EXACT layperson [] synonym: "Coarse hair texture" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Rough hair texture" BROAD layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:48610005 xref: UMLS:C0277959 xref: UMLS:C4072834 is_a: HP:0010719 ! Abnormality of hair texture [Term] id: HP:0002209 name: Sparse scalp hair alt_id: HP:0002233 alt_id: HP:0002556 alt_id: HP:0004534 alt_id: HP:0004541 alt_id: HP:0004542 alt_id: HP:0004772 alt_id: HP:0004774 alt_id: HP:0004775 def: "Decreased number of head hairs per unit area." [pmid:19125436] comment: Hypotrichosis should not be used as a synonym as, formally, it means underdevelopment of the hair. No normal values for number of hairs per unit area exist. synonym: "Scalp hair, thinning" EXACT layperson [] synonym: "Sparse scalp hair" EXACT layperson [] synonym: "Sparse, thin scalp hair" EXACT layperson [] synonym: "sparse-absent scalp hair" EXACT layperson [] synonym: "Thin scalp hair" RELATED layperson [] xref: UMLS:C1857042 is_a: HP:0008070 ! Sparse hair is_a: HP:0100037 ! Abnormality of the scalp hair [Term] id: HP:0002211 name: White forelock def: "A triangular depigmented region of white hairs located in the anterior midline of the scalp." [DDD:probinson] subset: hposlim_core synonym: "Poliosis of anterior hair" EXACT [ORCID:0000-0001-5889-4463] synonym: "Poliosis of forelock hair" EXACT [ORCID:0000-0001-5889-4463] synonym: "White part of hair above forehead" EXACT layperson [ORCID:0000-0002-6548-5200] xref: SNOMEDCT_US:247564004 xref: UMLS:C0344312 is_a: HP:0011365 ! Patchy hypopigmentation of hair [Term] id: HP:0002212 name: Curly hair synonym: "Curly hair" EXACT layperson [] xref: SNOMEDCT_US:225570000 xref: UMLS:C0558165 is_a: HP:0010719 ! Abnormality of hair texture [Term] id: HP:0002213 name: Fine hair alt_id: HP:0200132 def: "Hair that is fine or thin to the touch." [HPO:probinson] subset: hposlim_core synonym: "Fine hair" EXACT layperson [] synonym: "Fine hair shaft" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Fine hair texture" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Thin hair" EXACT [] synonym: "Thin hair shaft" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Thin hair texture" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Thinned hair" EXACT [] xref: SNOMEDCT_US:247546006 xref: UMLS:C0423867 is_a: HP:0010719 ! Abnormality of hair texture [Term] id: HP:0002215 name: Sparse axillary hair alt_id: HP:0004514 alt_id: HP:0004518 alt_id: HP:0004545 def: "Reduced number or density of axillary hair." [HPO:probinson] synonym: "Limited armpit hair" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Little underarm hair" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Sparse axillary and pubic hair" EXACT [] synonym: "Sparse scalp, axillary, and pubic hair" EXACT [] synonym: "sparse to absent axillary hair" EXACT [] xref: UMLS:C1858574 is_a: HP:0008070 ! Sparse hair is_a: HP:0100134 ! Abnormality of the axillary hair [Term] id: HP:0002216 name: Premature graying of hair def: "Development of gray hair at a younger than normal age." [HPO:probinson] subset: hposlim_core synonym: "Early graying" EXACT layperson [] synonym: "Premature graying" EXACT layperson [] synonym: "Premature graying of hair" EXACT layperson [] synonym: "Premature graying of the hair" RELATED layperson [HPO:skoehler] synonym: "Premature greying" EXACT layperson [] synonym: "Premature hair graying" EXACT layperson [] xref: SNOMEDCT_US:387833009 xref: UMLS:C0263498 is_a: HP:0007495 ! Prematurely aged appearance is_a: HP:0009887 ! Abnormality of hair pigmentation [Term] id: HP:0002217 name: Slow-growing hair alt_id: HP:0004767 alt_id: HP:0004770 alt_id: HP:0004781 def: "Hair whose growth is slower than normal." [HPO:probinson] subset: hposlim_core synonym: "Slow growing hair" EXACT layperson [] synonym: "Slow rate of hair growth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Slow speed of hair growth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Slow-growing hair" EXACT layperson [] xref: UMLS:C1832348 is_a: HP:0011363 ! Abnormality of hair growth rate [Term] id: HP:0002218 name: Silver-gray hair def: "Hypopigmented hair that appears silver-gray." [HPO:probinson] synonym: "Silver-gray hair" EXACT layperson [] synonym: "Silver-gray hair color" EXACT layperson [] synonym: "Silvery-gray hair" EXACT layperson [] xref: UMLS:C1836576 is_a: HP:0011358 ! Generalized hypopigmentation of hair [Term] id: HP:0002219 name: Facial hypertrichosis def: "Excessive, increased hair growth located in the facial region." [] synonym: "Increased facial hair growth" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:C565029 xref: UMLS:C1851400 is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0002220 name: Melanin pigment aggregation in hair shafts xref: UMLS:C1843390 is_a: HP:0009887 ! Abnormality of hair pigmentation [Term] id: HP:0002221 name: Absent axillary hair alt_id: HP:0004549 def: "Absence of axillary hair." [HPO:probinson] xref: UMLS:C1859392 is_a: HP:0002298 ! Absent hair is_a: HP:0100134 ! Abnormality of the axillary hair [Term] id: HP:0002223 name: Absent eyebrow def: "Absence of the eyebrow." [HPO:probinson] subset: hposlim_core synonym: "Absent eyebrow" EXACT layperson [] synonym: "Absent eyebrows" EXACT [] synonym: "Agenesis of eyebrows" NARROW [ORCID:0000-0001-5889-4463] synonym: "Aplasia of eyebrows" NARROW [ORCID:0000-0001-5889-4463] synonym: "Failure of development of eyebrows" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Loss of eyebrows" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Missing eyebrows" NARROW layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:253208007 xref: SNOMEDCT_US:422441003 xref: UMLS:C0431448 xref: UMLS:C0578682 xref: UMLS:C4280581 xref: UMLS:C4280582 is_a: HP:0002298 ! Absent hair is_a: HP:0100840 ! Aplasia/Hypoplasia of the eyebrow [Term] id: HP:0002224 name: Woolly hair subset: hposlim_core synonym: "Afro-textured hair" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Kinked hair" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Kinky hair texture" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Nappy hair texture" BROAD layperson [ORCID:0000-0001-5889-4463] xref: MEDDRA:10048017 "Wooly hair" xref: SNOMEDCT_US:52564001 xref: UMLS:C0343073 xref: UMLS:C4072835 xref: UMLS:C4072836 xref: UMLS:C4073292 is_a: HP:0010719 ! Abnormality of hair texture [Term] id: HP:0002225 name: Sparse pubic hair alt_id: HP:0004778 def: "Reduced number or density of pubic hair." [HPO:probinson] subset: hposlim_core synonym: "Decreased sexual hair" EXACT layperson [] synonym: "Sparse pubic hair" EXACT layperson [] synonym: "sparse to absent pubic hair" EXACT [] xref: UMLS:C1858573 is_a: HP:0008070 ! Sparse hair is_a: HP:0100133 ! Abnormality of the pubic hair [Term] id: HP:0002226 name: White eyebrow alt_id: HP:0002228 alt_id: HP:0004536 def: "White color (lack of pigmentation) of the eyebrow." [HPO:probinson] subset: hposlim_core synonym: "Blonde eyebrow" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Depigmented eyebrow" EXACT [] synonym: "Grey eyebrow" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Hypopigmented eyebrow" EXACT [] synonym: "Pale eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "White eyebrow" EXACT layperson [] xref: UMLS:C1836737 xref: UMLS:C4280579 xref: UMLS:C4280580 is_a: HP:0000534 ! Abnormal eyebrow morphology is_a: HP:0009887 ! Abnormality of hair pigmentation [Term] id: HP:0002227 name: White eyelashes def: "White color (lack of pigmentation) of the eyelashes." [DDD:cmoss] synonym: "Blonde eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Depigmented eyelashes" EXACT [] synonym: "Grey eyelashes" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Pale eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "White eyelashes" EXACT layperson [] xref: UMLS:C1836736 xref: UMLS:C4280578 is_a: HP:0000499 ! Abnormal eyelash morphology is_a: HP:0009887 ! Abnormality of hair pigmentation [Term] id: HP:0002229 name: Alopecia areata def: "Loss of round patches of scalp hair." [HPO:probinson] comment: In alopecia areata, round bald patches can appear suddenly. xref: MSH:D000506 xref: SNOMEDCT_US:68225006 xref: UMLS:C0002171 is_a: HP:0001596 ! Alopecia is_a: HP:0011360 ! Acquired abnormal hair pattern [Term] id: HP:0002230 name: Generalized hirsutism def: "Abnormally increased hair growth over much of the entire body." [HPO:curators] synonym: "Excessive hairiness over body" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1849211 is_a: HP:0001007 ! Hirsutism [Term] id: HP:0002231 name: Sparse body hair def: "Sparseness of the body hair." [HPO:probinson] subset: hposlim_core synonym: "Sparse body hair" EXACT layperson [] xref: UMLS:C1862863 is_a: HP:0008070 ! Sparse hair [Term] id: HP:0002232 name: Patchy alopecia xref: MSH:C531609 xref: UMLS:C1862862 is_a: HP:0001596 ! Alopecia [Term] id: HP:0002234 name: Early balding def: "Loss of scalp hair at an earlier than normal age." [HPO:probinson] synonym: "Early balding" EXACT layperson [] xref: UMLS:C4025718 is_a: HP:0011360 ! Acquired abnormal hair pattern [Term] id: HP:0002235 name: Pili canaliculi alt_id: HP:0002285 def: "Uncombable hair." [HPO:probinson] xref: UMLS:C1860608 is_a: HP:0003328 ! Abnormal hair laboratory examination [Term] id: HP:0002236 name: Frontal upsweep of hair def: "Upward and/or sideward growth of anterior hair." [pmid:19125436] subset: hposlim_core synonym: "Cowlick" EXACT layperson [] synonym: "Frontal Cowlick" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Frontal upsweep of hair" EXACT layperson [] synonym: "Upswept frontal hair" EXACT layperson [] synonym: "Upswept frontal hair pattern" RELATED layperson [HPO:skoehler] synonym: "Upswept frontal hairline" RELATED layperson [HPO:skoehler] xref: UMLS:C1185616 xref: UMLS:C2675540 xref: UMLS:C3275754 is_a: HP:0010721 ! Abnormal hair whorl [Term] id: HP:0002239 name: Gastrointestinal hemorrhage def: "Hemorrhage affecting the gastrointestinal tract." [HPO:probinson] synonym: "Gastrointestinal bleeding" EXACT layperson [] synonym: "GI hemorrhage" EXACT HP:0045077 [] xref: MSH:D006471 xref: SNOMEDCT_US:74474003 xref: UMLS:C0017181 is_a: HP:0011029 ! Internal hemorrhage is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract [Term] id: HP:0002240 name: Hepatomegaly alt_id: HP:0001393 alt_id: HP:0001398 def: "Abnormally increased size of the liver." [HPO:probinson] synonym: "Enlarged liver" EXACT layperson [] xref: MSH:D006529 xref: SNOMEDCT_US:80515008 xref: UMLS:C0019209 is_a: HP:0003271 ! Visceromegaly is_a: HP:0410042 ! Abnormal liver morphology [Term] id: HP:0002242 name: Abnormal intestine morphology alt_id: HP:0002628 def: "An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine." [HPO:probinson] synonym: "Abnormality of the intestine" EXACT layperson [] synonym: "Enteropathy" EXACT [] xref: MSH:D007410 xref: SNOMEDCT_US:85919009 xref: UMLS:C0021831 is_a: HP:0012718 ! Morphological abnormality of the gastrointestinal tract [Term] id: HP:0002243 name: Protein-losing enteropathy def: "Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract." [HPO:probinson] comment: Affected individuals may present with peripheral edema, diarrhea with or without bleeding, abdominal pain, and/or weight loss. Protein-losing enteropathy is not a disease but is a manifestation of a number of gastrointestinal diseases and can be related to factors such as lymphatic obstruction, mucosal disease with erosions, ulcerations, or increased mucosal permeability to proteins. xref: MSH:D011504 xref: SNOMEDCT_US:22542007 xref: SNOMEDCT_US:66972006 xref: UMLS:C0033680 is_a: HP:0002244 ! Abnormality of the small intestine [Term] id: HP:0002244 name: Abnormality of the small intestine def: "An abnormality of the small intestine." [HPO:probinson] xref: UMLS:C4025717 is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0002245 name: Meckel diverticulum def: "Meckel's diverticulum is a congenital diverticulum located in the distal ileum." [HPO:probinson] xref: MEDDRA:10027055 "Meckel's diverticulum" xref: MSH:D008467 xref: SNOMEDCT_US:127962001 xref: SNOMEDCT_US:37373007 xref: UMLS:C0025037 is_a: HP:0001549 ! Abnormal ileum morphology [Term] id: HP:0002246 name: Abnormality of the duodenum def: "An abnormality of the duodenum, i.e., the first section of the small intestine." [HPO:probinson] subset: hposlim_core xref: UMLS:C4025716 is_a: HP:0002244 ! Abnormality of the small intestine [Term] id: HP:0002247 name: Duodenal atresia def: "A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum." [HPO:probinson] subset: hposlim_core synonym: "Absence or narrowing of first part of small bowel" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: Fyler:4406 xref: MEDDRA:10013812 "Duodenal atresia" xref: MSH:C535720 xref: SNOMEDCT_US:51118003 xref: UMLS:C0266174 is_a: HP:0002246 ! Abnormality of the duodenum is_a: HP:0011100 ! Intestinal atresia [Term] id: HP:0002248 name: Hematemesis def: "The vomiting of blood." [HPO:probinson] comment: The source of hematemesis is generally the upper gastrointestinal tract. synonym: "Vomitting blood" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D006396 xref: SNOMEDCT_US:8765009 xref: UMLS:C0018926 is_a: HP:0002239 ! Gastrointestinal hemorrhage [Term] id: HP:0002249 name: Melena def: "The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding." [HPO:probinson] synonym: "Black feces" NARROW layperson [ORCID:0000-0001-6908-9849] xref: MSH:D008551 xref: SNOMEDCT_US:249627005 xref: SNOMEDCT_US:267055007 xref: SNOMEDCT_US:269899009 xref: SNOMEDCT_US:2901004 xref: SNOMEDCT_US:35064005 xref: UMLS:C0025222 xref: UMLS:C0474585 is_a: HP:0002239 ! Gastrointestinal hemorrhage is_a: HP:0025085 ! Bloody diarrhea [Term] id: HP:0002250 name: Abnormal large intestine morphology def: "Any abnormality of the large intestine." [HPO:probinson] comment: The large intestine comprises the cecum and colon. synonym: "Abnormality of the large intestine" EXACT layperson [] xref: UMLS:C4025715 is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0002251 name: Aganglionic megacolon alt_id: HP:0002029 alt_id: HP:0002030 alt_id: HP:0002606 alt_id: HP:0004391 def: "An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon." [HPO:probinson, pmid:17965226] comment: Aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. subset: hposlim_core synonym: "Congenital megacolon" EXACT [] synonym: "Enlarged colon lacking nerve cells" EXACT layperson [orcid.org/0000-0002-6548-5200] synonym: "Hirschsprung disease" RELATED [] synonym: "Hirschsprung megacolon" EXACT [] synonym: "Megacolon" EXACT [] xref: MEDDRA:10027110 "Megacolon" xref: MSH:D006627 xref: MSH:D008531 xref: SNOMEDCT_US:204739008 xref: SNOMEDCT_US:33995003 xref: SNOMEDCT_US:367495003 xref: UMLS:C0019569 xref: UMLS:C0025160 is_a: HP:0004362 ! Abnormality of enteric ganglion morphology [Term] id: HP:0002253 name: Colonic diverticula alt_id: HP:0005860 def: "The presence of multiple diverticula of the colon." [HPO:probinson] subset: hposlim_core synonym: "Colon diverticula" RELATED [] synonym: "Colonic diverticulosis" EXACT [] xref: MEDDRA:10009993 "Colonic diverticulosis" xref: MSH:D004241 xref: MSH:D043963 xref: SNOMEDCT_US:398050005 xref: UMLS:C0012811 xref: UMLS:C0012819 is_a: HP:0002250 ! Abnormal large intestine morphology is_a: HP:0005222 ! Bowel diverticulosis [Term] id: HP:0002254 name: Intermittent diarrhea xref: UMLS:C0239181 is_a: HP:0002014 ! Diarrhea [Term] id: HP:0002256 name: Small bowel diverticula subset: hposlim_core xref: MEDDRA:10013533 "Diverticula of small intestine" xref: SNOMEDCT_US:8114009 xref: UMLS:C0267498 is_a: HP:0002244 ! Abnormality of the small intestine is_a: HP:0005222 ! Bowel diverticulosis [Term] id: HP:0002257 name: Chronic rhinitis def: "Chronic inflammation of the nasal mucosa." [HPO:probinson] xref: SNOMEDCT_US:86094006 xref: UMLS:C0008711 is_a: HP:0012384 ! Rhinitis [Term] id: HP:0002263 name: Exaggerated cupid's bow def: "More pronounced paramedian peaks and median notch of the Cupid's bow." [pmid:19125428] comment: This may be associated with a Deep philtrum, but that finding should be coded separately. subset: hposlim_core synonym: "Cupid bow upper lip" EXACT layperson [] synonym: "Cupid's bow, accentuated" EXACT [] synonym: "Cupid-bow shaped upper lip" EXACT layperson [] synonym: "Exaggerated cupid's bow" EXACT layperson [] synonym: "Prominent cupid-bow of upper lip" EXACT layperson [] xref: UMLS:C1850629 is_a: HP:0011339 ! Abnormality of upper lip vermillion [Term] id: HP:0002265 name: Large fleshy ears synonym: "Large fleshy ears" EXACT layperson [] xref: UMLS:C3808403 is_a: HP:0000400 ! Macrotia [Term] id: HP:0002266 name: Focal clonic seizures synonym: "Localized clonic seizure" EXACT [ORCID:0000-0001-6908-9849] synonym: "Partial clonic seizure" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:D020938 xref: UMLS:C0752323 is_a: HP:0011153 ! Focal motor seizure [Term] id: HP:0002267 name: Exaggerated startle response def: "An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face." [HPO:curators] synonym: "Exaggerated acoustic startle response" EXACT [] synonym: "Hyperekplexia" RELATED [] synonym: "Increased startle response" EXACT [] xref: MSH:D000071017 xref: SNOMEDCT_US:19557000 xref: UMLS:C0234166 xref: UMLS:C1740801 xref: UMLS:C1836014 xref: UMLS:C1848918 is_a: HP:0002071 ! Abnormality of extrapyramidal motor function [Term] id: HP:0002268 name: Paroxysmal dystonia alt_id: HP:0002412 def: "A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes." [HPO:probinson] synonym: "Episodic dystonia" EXACT [] xref: MSH:D004421 xref: SNOMEDCT_US:230310003 xref: UMLS:C0393588 is_a: HP:0001332 ! Dystonia [Term] id: HP:0002269 name: Abnormality of neuronal migration alt_id: HP:0007317 def: "An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain." [HPO:probinson] synonym: "Abnormal neuronal migration" EXACT [] synonym: "Heterotopias/abnormal migration" EXACT [] synonym: "Migrational brain disorder" EXACT [] synonym: "Neuronal migration disorder" EXACT [] xref: MSH:D054081 xref: UMLS:C1837249 is_a: HP:0002011 ! Morphological abnormality of the central nervous system [Term] id: HP:0002270 name: Abnormality of the autonomic nervous system def: "An abnormality of the autonomic nervous system." [HPO:probinson] comment: The autonomic nervous system is the part of the peripheral nervous system that controls visceral functions such as heart rate and digestion and functions largely below the level of consciousness. xref: UMLS:C4025714 is_a: HP:0410008 ! Abnormality of the peripheral nervous system [Term] id: HP:0002271 name: obsolete Autonomic dysregulation is_obsolete: true replaced_by: HP:0012332 [Term] id: HP:0002273 name: Tetraparesis alt_id: HP:0002338 def: "Weakness of all four limbs." [HPO:probinson] comment: Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength. synonym: "Quadriparesis" EXACT [] xref: MSH:D011782 xref: SNOMEDCT_US:91327001 xref: UMLS:C0270790 is_a: HP:0030182 ! Tetraplegia/tetraparesis [Term] id: HP:0002275 name: Poor motor coordination synonym: "Poor motor coordination" EXACT layperson [] xref: UMLS:C1848453 is_a: HP:0011443 ! Abnormality of coordination [Term] id: HP:0002277 name: Horner syndrome alt_id: HP:0000596 def: "An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection." [HPO:probinson] comment: Ptosis, miosis, and occasionally apparent enophthalmos and anhidrosis on one side of the face, loss of ciliospinal reflex and blood shot conjunctiva. synonym: "Horner's syndrome" EXACT [] synonym: "Oculosympathetic palsy" EXACT [ORCID:0000-0001-5208-3432] xref: MSH:D006732 xref: SNOMEDCT_US:12731000 xref: SNOMEDCT_US:192915005 xref: SNOMEDCT_US:271730003 xref: UMLS:C0019937 is_a: HP:0000508 ! Ptosis is_a: HP:0000616 ! Miosis is_a: HP:0012332 ! Abnormal autonomic nervous system physiology [Term] id: HP:0002280 name: Enlarged cisterna magna def: "Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata." [HPO:probinson] comment: Cerebrospinal fluid produced in the fourth ventricle drains into the cisterna magna via the lateral apertures and median aperture. synonym: "Large cisterna magna" EXACT [] synonym: "Mega cisterna magna" RELATED [] xref: UMLS:C1853377 is_a: HP:0002119 ! Ventriculomegaly [Term] id: HP:0002281 name: obsolete Gray matter heterotopias is_obsolete: true replaced_by: HP:0002282 [Term] id: HP:0002282 name: Gray matter heterotopia alt_id: HP:0002281 alt_id: HP:0007314 def: "Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter." [COST:neuromig, ORCID:0000-0001-5208-3432, PMID:22427329, PMID:25180909, PMID:7524438] comment: Gray matter heterotopia is caused by clumps of grey matter being located in the wrong part of the brain. It is characterized as a type of cortical malformation. The neurons in heterotopia may appear to be normal, except for their mislocation; nuclear studies have shown glucose metabolism equal to that of normally positioned gray matter. The condition causes a variety of symptoms, but usually includes some degree of epilepsy or recurring seizures, and often affects the brain's ability to function on higher levels. Symptoms range from nonexistent to profound, in which case heterotopia can result in severe seizure disorder, loss of motor skills, and mental retardation. Neuronal heterotopia consists of grey matter within the white matter, and the term grey matter heterotopia is more frequently used. synonym: "Gray matter heterotopias" EXACT HP:0045078 [] synonym: "Grey matter heterotopia" EXACT HP:0045076 [] synonym: "Heterotopia" EXACT [] synonym: "Heterotopias" EXACT HP:0045078 [] synonym: "Neuronal heterotopia" EXACT [] xref: MSH:D002828 xref: SNOMEDCT_US:128490007 xref: SNOMEDCT_US:416286003 xref: SNOMEDCT_US:417338002 xref: UMLS:C0008519 is_a: HP:0002269 ! Abnormality of neuronal migration [Term] id: HP:0002283 name: Global brain atrophy alt_id: HP:0002369 alt_id: HP:0002462 def: "Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size." [HPO:sdoelken] comment: Global brain atrophy can be visualized and quantified by magnetic resonance imaging. synonym: "Diffuse brain atrophy" EXACT [] synonym: "Generalized brain atrophy" EXACT [] synonym: "Generalized brain degeneration" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Generalized cerebral atrophy" EXACT [] xref: UMLS:C0241816 is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system is_a: HP:0012444 ! Brain atrophy [Term] id: HP:0002286 name: Fair hair alt_id: HP:0002214 alt_id: HP:0002294 def: "A lesser degree of hair pigmentation than would otherwise be expected." [DDD:cmoss] comment: For instance, in Angelman syndrome, reduced expression of the gene OCA2 is associated with light-colored hair and fair skin, such that affected children often have noticeably fairer hair than their unaffected relatives. synonym: "Blond hair" EXACT layperson [] synonym: "Fair hair" EXACT layperson [] synonym: "Fair hair color" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Flaxen hair color" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Light colored hair" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Sandy hair color" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Straw colored hair" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Towhead (hair color)" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:297995004 xref: UMLS:C0239801 xref: UMLS:C1849221 is_a: HP:0011358 ! Generalized hypopigmentation of hair [Term] id: HP:0002287 name: Progressive alopecia def: "Progressive loss of hair." [HPO:probinson] xref: UMLS:C1851885 is_a: HP:0001596 ! Alopecia [Term] id: HP:0002289 name: Alopecia universalis alt_id: HP:0004550 def: "Loss of all hair on the entire body." [HPO:probinson] synonym: "Alopecia, complete" EXACT [] synonym: "Universal alopecia" RELATED [] xref: MSH:C537055 xref: SNOMEDCT_US:86166000 xref: UMLS:C0263505 is_a: HP:0001596 ! Alopecia [Term] id: HP:0002290 name: Poliosis def: "Circumscribed depigmentation of the hair of the head or the eyelashes." [HPO:probinson] synonym: "Patch of white hair" EXACT layperson [] synonym: "White patch" EXACT layperson [] xref: SNOMEDCT_US:14240001 xref: UMLS:C0221262 is_a: HP:0011365 ! Patchy hypopigmentation of hair [Term] id: HP:0002292 name: Frontal balding def: "Absence of hair in the anterior midline and/or parietal areas." [pmid:19125436] subset: hposlim_core synonym: "Frontal balding" EXACT layperson [] synonym: "Male pattern baldness" BROAD layperson [ORCID:0000-0001-5889-4463] xref: MSH:D000505 xref: SNOMEDCT_US:87872006 xref: UMLS:C1864584 xref: UMLS:C4083212 is_a: HP:0011360 ! Acquired abnormal hair pattern [Term] id: HP:0002293 name: Alopecia of scalp alt_id: HP:0200115 synonym: "Absence of scalp hair" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Baldness" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Missing scalp hair" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Pathologic hair loss from scalp" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Scalp hair loss" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D000505 xref: SNOMEDCT_US:278040002 xref: SNOMEDCT_US:298000004 xref: SNOMEDCT_US:56317004 xref: UMLS:C0002170 xref: UMLS:C0574769 xref: UMLS:C1850535 is_a: HP:0001596 ! Alopecia is_a: HP:0100037 ! Abnormality of the scalp hair [Term] id: HP:0002296 name: Progressive hypotrichosis def: "Progressively reduced or lacking hair growth." [HPO:curators] xref: UMLS:C1857048 is_a: HP:0001006 ! Hypotrichosis [Term] id: HP:0002297 name: Red hair synonym: "Ginger hair color" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Red hair" EXACT layperson [] synonym: "Red hair color" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Red head (hair color)" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:297997007 xref: UMLS:C0239803 is_a: HP:0009887 ! Abnormality of hair pigmentation [Term] id: HP:0002298 name: Absent hair alt_id: HP:0004548 synonym: "Absent hair" EXACT layperson [] xref: SNOMEDCT_US:297991008 xref: UMLS:C0574763 is_a: HP:0011362 ! Abnormal hair quantity [Term] id: HP:0002299 name: Brittle hair def: "Fragile, easily breakable hair, i.e., with reduced tensile strength." [DDD:cmoss] comment: Brittle is used to describe hair which is very short because of an abnormality is in the structure of the shaft. Microscopically the ends appear fractured. Affected patients may report bits of hair on the collar or pillow. Brittle hair can be distinguished from hypotrichosis due to slow or deficient growth (e.g., due to hypotrichosis simplex) and hypotrichosis due to the hair being fine and soft where the hair just wears out too quickly (e.g., due to ectodermal dysplasia). synonym: "Brittle hair" EXACT layperson [] synonym: "Easily breakable hair" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Fractured hair" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Fragile hair" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Reduced tensile strength of hair" BROAD layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:25159003 xref: UMLS:C0263490 xref: UMLS:C1851868 xref: UMLS:C1970705 xref: UMLS:C4072837 is_a: HP:0010719 ! Abnormality of hair texture [Term] id: HP:0002300 name: Mutism synonym: "Inability to speak" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Muteness" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D009155 xref: SNOMEDCT_US:88052002 xref: UMLS:C0026884 is_a: HP:0000708 ! Behavioral abnormality is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002301 name: Hemiplegia def: "Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body." [HPO:curators] synonym: "Paralysis on one side of body" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D006429 xref: SNOMEDCT_US:50582007 xref: UMLS:C0018991 is_a: HP:0004374 ! Hemiplegia/hemiparesis [Term] id: HP:0002304 name: Akinesia def: "Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily." [HPO:probinson] comment: Akinesia is a typical extrapyramidal abnormality. xref: SNOMEDCT_US:33994004 xref: UMLS:C0085623 is_a: HP:0002374 ! Diminished movement [Term] id: HP:0002305 name: Athetosis alt_id: HP:0007167 alt_id: HP:0007316 def: "A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest." [HPO:probinson, PMID:20589866] comment: Athetosis derives from the Greek word for 'changeable' or 'unfixed'. synonym: "Athetoid movements" EXACT [] synonym: "Involuntary writhing movements" EXACT [] synonym: "Involuntary writhing movements in fingers, hands, toes, and feet" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D001264 xref: SNOMEDCT_US:44913001 xref: SNOMEDCT_US:58593005 xref: UMLS:C0004158 xref: UMLS:C1845265 is_a: HP:0004305 ! Involuntary movements [Term] id: HP:0002307 name: Drooling def: "Habitual flow of saliva out of the mouth." [HPO:probinson, pmid:15202698] synonym: "Dribbling" EXACT layperson [] synonym: "Drooling" EXACT layperson [] synonym: "Sialorrhea" EXACT [HPO:sdoelken] xref: MSH:D012798 xref: SNOMEDCT_US:275295002 xref: SNOMEDCT_US:53827007 xref: SNOMEDCT_US:62718007 xref: UMLS:C0013132 xref: UMLS:C0037036 is_a: HP:0000708 ! Behavioral abnormality is_a: HP:0003781 ! Excessive salivation [Term] id: HP:0002308 name: Arnold-Chiari malformation def: "Arnold-Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow." [HPO:curators] synonym: "Chiari malformation" EXACT [] xref: MSH:D001139 xref: SNOMEDCT_US:253184003 xref: UMLS:C0003803 is_a: HP:0002438 ! Cerebellar malformation [Term] id: HP:0002310 name: Orofacial dyskinesia synonym: "Orofacial dyskinesias" EXACT [] xref: MSH:D020820 xref: SNOMEDCT_US:49386006 xref: UMLS:C0152115 is_a: HP:0100660 ! Dyskinesia [Term] id: HP:0002311 name: Incoordination alt_id: HP:0002276 synonym: "Difficulties in coordination" EXACT layperson [] synonym: "Incoordination" EXACT layperson [] synonym: "Incoordination of limb movements" EXACT layperson [] synonym: "Limb incoordination" EXACT layperson [] xref: MSH:D001259 xref: SNOMEDCT_US:281016006 xref: SNOMEDCT_US:302289002 xref: UMLS:C0520966 is_a: HP:0011443 ! Abnormality of coordination [Term] id: HP:0002312 name: Clumsiness def: "Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects." [HPO:probinson] synonym: "Clumsiness" EXACT layperson [] xref: SNOMEDCT_US:7006003 xref: UMLS:C0233844 is_a: HP:0002311 ! Incoordination [Term] id: HP:0002313 name: Spastic paraparesis alt_id: HP:0007191 xref: MSH:D020336 xref: SNOMEDCT_US:312444006 xref: UMLS:C0037771 is_a: HP:0002061 ! Lower limb spasticity is_a: HP:0002385 ! Paraparesis [Term] id: HP:0002314 name: Degeneration of the lateral corticospinal tracts alt_id: HP:0007254 def: "Deterioration of the tissues of the lateral corticospinal tracts." [HPO:probinson] synonym: "Degeneration of lateral corticospinal tracts" EXACT [] xref: UMLS:C1846566 is_a: HP:0007372 ! Atrophy/Degeneration involving the corticospinal tracts [Term] id: HP:0002315 name: Headache alt_id: HP:0000266 alt_id: HP:0001354 def: "Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve." [HPO:probinson, pmid:15304572] comment: Headache is one of the most common types of recurrent pain as well as one of the most frequent symptoms in neurology. In addition to occasional headaches, there are well-defined headache disorders that vary in incidence, prevalence and duration and can be divided into two broad categories. In secondary headache disorders, headaches are attributed to another condition, such as brain tumour or head injury; for the primary disorders the headache is not due to another condition. synonym: "Headache" EXACT layperson [] synonym: "Headaches" EXACT layperson [] xref: MSH:D006261 xref: SNOMEDCT_US:25064002 xref: UMLS:C0018681 is_a: HP:0012638 ! Abnormality of nervous system physiology [Term] id: HP:0002317 name: Unsteady gait synonym: "Gait instability" EXACT [] synonym: "Unsteady walk" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D020233 xref: SNOMEDCT_US:22631008 xref: SNOMEDCT_US:394616008 xref: UMLS:C0231686 is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002318 name: Cervical myelopathy xref: SNOMEDCT_US:202664003 xref: UMLS:C0149645 is_a: HP:0002196 ! Myelopathy [Term] id: HP:0002321 name: Vertigo def: "An abnormal sensation of spinning while the body is actually stationary." [HPO:probinson] synonym: "Dizziness" RELATED layperson [] synonym: "Dizzy spell" EXACT layperson [] xref: MSH:D004244 xref: MSH:D014717 xref: SNOMEDCT_US:271789005 xref: SNOMEDCT_US:399090003 xref: SNOMEDCT_US:399153001 xref: SNOMEDCT_US:404640003 xref: UMLS:C0012833 xref: UMLS:C0042571 is_a: HP:0001751 ! Vestibular dysfunction [Term] id: HP:0002322 name: Resting tremor def: "A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse." [HPO:probinson, PMID:22675666] comment: Resting tremor vanishes with active movement, but typically reappears after a few seconds when the arms are held outstretched (reemergent tremor). In Parkinson disease, rest tremor frequency is usually in the low to mid-range (3-6 Hz), and the amplitude is quite variable, from less than 1 cm to over 10 cm in width. synonym: "Parkinsonian tremor" RELATED [] synonym: "Rest tremor" EXACT [] synonym: "Resting tremor" EXACT layperson [] synonym: "Tremor at rest" EXACT layperson [] xref: MSH:D014202 xref: SNOMEDCT_US:25082004 xref: UMLS:C0234379 is_a: HP:0001337 ! Tremor [Term] id: HP:0002323 name: Anencephaly xref: Fyler:4332 xref: MSH:D000757 xref: SNOMEDCT_US:89369001 xref: UMLS:C0002902 is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum [Term] id: HP:0002324 name: Hydranencephaly def: "A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue." [HPO:probinson] synonym: "Hydrancephaly" EXACT [ORCID:0000-0001-5208-3432] xref: MSH:D006832 xref: SNOMEDCT_US:30023002 xref: UMLS:C0020225 is_a: HP:0002323 ! Anencephaly [Term] id: HP:0002326 name: Transient ischemic attack synonym: "Mini stroke" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "TIA" EXACT HP:0045077 [HPO:skoehler] synonym: "Transient ischemic attacks" EXACT [] xref: MSH:D002546 xref: UMLS:C0917805 is_a: HP:0001297 ! Stroke is_a: HP:0002637 ! Cerebral ischemia [Term] id: HP:0002329 name: Drowsiness def: "Excessive daytime sleepiness." [HPO:probinson] synonym: "Drowsiness" EXACT layperson [] synonym: "Sleepy" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D012894 xref: SNOMEDCT_US:271782001 xref: SNOMEDCT_US:79519003 xref: UMLS:C0013144 is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0002330 name: Paroxysmal drowsiness def: "Attacks of disabling daytime drowsiness and low alertness." [HPO:probinson] xref: UMLS:C4025713 is_a: HP:0002329 ! Drowsiness [Term] id: HP:0002331 name: Recurrent paroxysmal headache def: "Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality." [HPO:probinson] xref: UMLS:C1854337 is_a: HP:0002315 ! Headache [Term] id: HP:0002332 name: Lack of peer relationships synonym: "Lack of peer relationships" EXACT layperson [] xref: UMLS:C1845337 is_a: HP:0000735 ! Impaired social interactions [Term] id: HP:0002333 name: Motor deterioration def: "Loss of previously present motor (i.e., movement) abilities." [HPO:probinson] synonym: "Progressive degeneration of movement" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1866284 is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0002334 name: Abnormality of the cerebellar vermis def: "An anomaly of the vermis of cerebellum." [HPO:probinson] comment: The cerebellar vermis is the unpaired, median portion of the cerebellum that connects the two hemispheres. xref: UMLS:C4025712 is_a: HP:0002438 ! Cerebellar malformation [Term] id: HP:0002335 name: Agenesis of cerebellar vermis alt_id: HP:0007125 def: "Congenital absence of the vermis of cerebellum." [HPO:probinson] synonym: "Cerebellar vermis aplasia" EXACT [] synonym: "Vermian agenesis" EXACT [] xref: MSH:C536293 xref: SNOMEDCT_US:253175003 xref: SNOMEDCT_US:716997004 xref: UMLS:C0431399 is_a: HP:0006817 ! Aplasia/Hypoplasia of the cerebellar vermis [Term] id: HP:0002339 name: Abnormal caudate nucleus morphology def: "Any structural abnormality of the caudate nucleus." [HPO:probinson] comment: The caudate nucleus is an elongated crescent-shaped mass lying parallel and adjacent to the lateral ventricle throughout its extent. synonym: "Abnormality of the caudate nucleus" EXACT [] xref: UMLS:C4025711 is_a: HP:0010994 ! Abnormal corpus striatum morphology [Term] id: HP:0002340 name: Caudate atrophy synonym: "Caudate degeneration" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C1858116 is_a: HP:0007374 ! Atrophy/Degeneration involving the caudate nucleus [Term] id: HP:0002341 name: Cervical cord compression alt_id: HP:0007145 def: "Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness." [HPO:probinson] synonym: "Cervical cord compression myelopathy" EXACT [] xref: UMLS:C0852866 is_a: HP:0002176 ! Spinal cord compression [Term] id: HP:0002342 name: Intellectual disability, moderate alt_id: HP:0007303 def: "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49." [HPO:curators] synonym: "IQ between 34 and 49" EXACT layperson [https://www.merckmanuals.com/home/children-s-health-issues/learning-and-developmental-disorders/intellectual-disability] synonym: "Mental retardation, moderate" EXACT [] synonym: "Moderate mental deficiency" EXACT [] synonym: "Moderate mental retardation" EXACT [] xref: SNOMEDCT_US:61152003 xref: UMLS:C0026351 is_a: HP:0001249 ! Intellectual disability [Term] id: HP:0002343 name: Normal pressure hydrocephalus def: "A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture." [eMedicine:1135286, HPO:probinson] comment: Normal pressure hydrocephalus rarely occurs in patients younger than 60 years. synonym: "Normal-pressure hydrocephalus" EXACT [] xref: MSH:D006850 xref: SNOMEDCT_US:30753002 xref: UMLS:C0020258 is_a: HP:0000238 ! Hydrocephalus [Term] id: HP:0002344 name: Progressive neurologic deterioration synonym: "Neurologic deterioration" EXACT [] synonym: "Neurologic deterioration, progressive" EXACT [] synonym: "Progressive mental deterioration" EXACT [] synonym: "Progressive neurodegeneration" EXACT [] synonym: "Worsening neurological symptoms" EXACT layperson [ORCID:0000-0002-6548-5200] xref: UMLS:C1854838 is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0002345 name: Action tremor def: "A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement." [HPO:curators] comment: Action tremor occurs with voluntary contraction of muscle. Subforms of action tremor include postural, isometric, and kinetic tremors synonym: "Ataxic tremor" RELATED [] xref: MSH:D014202 xref: SNOMEDCT_US:30721006 xref: UMLS:C0234376 xref: UMLS:C4020853 is_a: HP:0001337 ! Tremor [Term] id: HP:0002346 name: Head tremor def: "An unintentional, oscillating to-and-fro muscle movement affecting head movement." [HPO:probinson] synonym: "Head tremor" EXACT layperson [] xref: UMLS:C0239882 is_a: HP:0030188 ! Tremor by anatomical site [Term] id: HP:0002349 name: Focal aware seizure def: "A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile." [HPO:probinson, PMID:28276062, PMID:28276064] comment: In the previous (1981) ILAE classification of seizure types, the term 'simple partial seizure' was used to denote a focal aware seizure. synonym: "Focal aware seizures" EXACT HP:0045078 [] synonym: "Focal seizure with retained awareness" EXACT [] synonym: "Focal seizure without impairment of consciousness or awareness" EXACT [] synonym: "Focal seizures without impairment of consciousness or awareness" EXACT HP:0045078 [] synonym: "Simple partial seizure" EXACT [] synonym: "Simple partial seizures" EXACT HP:0045078 [] xref: MSH:D004828 xref: SNOMEDCT_US:117891000119100 xref: SNOMEDCT_US:79348005 xref: UMLS:C0234974 is_a: HP:0007359 ! Focal-onset seizure [Term] id: HP:0002350 name: Cerebellar cyst synonym: "Cerebellar cysts" EXACT [HPO:skoehler] xref: UMLS:C1847762 is_a: HP:0002438 ! Cerebellar malformation is_a: HP:0010576 ! Intracranial cystic lesion [Term] id: HP:0002352 name: Leukoencephalopathy alt_id: HP:0006838 alt_id: HP:0007073 def: "This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells." [HPO:probinson] comment: This feature can be demonstrated by magnetic resonance imaging or computer tomography. xref: MSH:D056784 xref: SNOMEDCT_US:22811006 xref: UMLS:C0270612 is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0002353 name: EEG abnormality alt_id: HP:0001346 alt_id: HP:0002429 alt_id: HP:0006841 def: "Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp." [HPO:curators] synonym: "Abnormal EEG" EXACT HP:0045077 [] synonym: "Abnormal electroencephalogram" EXACT [] synonym: "EEG abnormalities" EXACT HP:0045077 [] synonym: "Electroencephalogram abnormal" EXACT [] synonym: "Electroencephalogram abnormalities" EXACT [] xref: SNOMEDCT_US:274521009 xref: UMLS:C0151611 is_a: HP:0030178 ! Abnormality of central nervous system electrophysiology [Term] id: HP:0002354 name: Memory impairment alt_id: HP:0000747 alt_id: HP:0002081 def: "An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness." [HPO:probinson] comment: Affected individuals tend to lose their train of thought in conversation, begin tasks but forget their intention while doing it, repeat things often during conversations, and have difficulties in tasks of daily living. synonym: "Forgetfulness" EXACT layperson [] synonym: "Memory impairment" EXACT layperson [] synonym: "Memory loss" EXACT layperson [] synonym: "Memory problems" EXACT layperson [] synonym: "Poor memory" EXACT layperson [] xref: MSH:D008569 xref: SNOMEDCT_US:386807006 xref: SNOMEDCT_US:55533009 xref: UMLS:C0233794 xref: UMLS:C0542476 xref: UMLS:C0751295 is_a: HP:0100543 ! Cognitive impairment [Term] id: HP:0002355 name: Difficulty walking alt_id: HP:0007101 alt_id: HP:0009030 def: "Reduced ability to walk (ambulate)." [HPO:probinson] synonym: "Difficulty in walking" EXACT layperson [] synonym: "Difficulty walking" EXACT layperson [] synonym: "Walking disability" EXACT [] xref: MSH:D051346 xref: SNOMEDCT_US:228158008 xref: UMLS:C0311394 is_a: HP:0001288 ! Gait disturbance is_a: HP:0004302 ! Functional motor deficit [Term] id: HP:0002356 name: Writer's cramp def: "A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument." [HPO:probinson] synonym: "Writer's cramp" EXACT layperson [] xref: MSH:D020821 xref: SNOMEDCT_US:52008007 xref: UMLS:C0154676 is_a: HP:0004373 ! Focal dystonia [Term] id: HP:0002357 name: Dysphasia xref: MSH:D001037 xref: SNOMEDCT_US:20301004 xref: UMLS:C0973461 is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002359 name: Frequent falls synonym: "Frequent falls" EXACT layperson [] xref: UMLS:C0850703 is_a: HP:0002311 ! Incoordination is_a: HP:0004302 ! Functional motor deficit [Term] id: HP:0002360 name: Sleep disturbance def: "An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness." [HPO:curators] synonym: "Difficulty sleeping" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sleep disturbances" EXACT [HPO:skoehler] synonym: "Sleep dysfunction" EXACT [] synonym: "Trouble sleeping" EXACT layperson [] xref: SNOMEDCT_US:53888004 xref: UMLS:C0037317 is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0002361 name: Psychomotor deterioration def: "Loss of previously present mental and motor abilities." [HPO:probinson] synonym: "Psychomotor degeneration" EXACT [] xref: UMLS:C1836842 is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0002362 name: Shuffling gait def: "A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground." [] synonym: "Shuffled walk" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D020233 xref: SNOMEDCT_US:43005009 xref: UMLS:C0231688 is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002363 name: Abnormality of brainstem morphology def: "An anomaly of the brainstem." [HPO:probinson] synonym: "Abnormal shape of brainstem" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the brainstem" EXACT [] xref: UMLS:C1850601 is_a: HP:0012443 ! Abnormality of brain morphology [Term] id: HP:0002365 name: Hypoplasia of the brainstem def: "Underdevelopment of the brainstem." [HPO:probinson] comment: This finding can be demonstrated by magnetic resonance imaging. synonym: "Brainstem hypoplasia" EXACT [] synonym: "Hypoplastic brain stem" EXACT [] synonym: "Hypoplastic brainstem" EXACT [] synonym: "Small brainstem" EXACT layperson [] synonym: "Underdeveloped brainstem" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1842688 is_a: HP:0007362 ! Aplasia/Hypoplasia of the brainstem [Term] id: HP:0002366 name: Abnormal lower motor neuron morphology alt_id: HP:0007276 def: "Any structural anomaly of the lower motor neuron." [HPO:probinson] comment: previous def: 'has part' some \n(quality and ('inheres in' some 'Lower motor neuron (adult human)') and ('has modifier' some abnormal)) synonym: "Lower motor neuron disease" EXACT [] synonym: "Lower motor neuron manifestations" EXACT [] synonym: "Lower motor neuron signs" EXACT [] xref: UMLS:C1865412 is_a: HP:0000759 ! Abnormal peripheral nervous system morphology is_a: HP:0002450 ! Abnormal motor neuron morphology [Term] id: HP:0002367 name: Visual hallucinations synonym: "Visual hallucinations" EXACT layperson [] xref: MSH:D006212 xref: SNOMEDCT_US:64269007 xref: UMLS:C0233763 is_a: HP:0000738 ! Hallucinations [Term] id: HP:0002370 name: Poor coordination synonym: "Poor coordination" EXACT layperson [] xref: UMLS:C0563243 is_a: HP:0002311 ! Incoordination [Term] id: HP:0002371 name: Loss of speech synonym: "Loss of speech" EXACT layperson [] xref: UMLS:C0542223 is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002372 name: Normal interictal EEG def: "Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis." [] xref: UMLS:C1843146 is_a: HP:0025373 ! Interictal EEG abnormality [Term] id: HP:0002373 name: Febrile seizures alt_id: HP:0002175 alt_id: HP:0007102 def: "Febrile seizures are convulsions induced by a fever in infants or small children and are generally characterized by loss of consciousness and tonic-clonic movements. Most febrile seizures last a minute or two." [HPO:curators] synonym: "Febrile convulsions" EXACT [] synonym: "Fever induced seizures" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Seizures, febrile, in early childhood" EXACT [] synonym: "Seizures, generalized, associated with fever" EXACT [] xref: MSH:D003294 xref: SNOMEDCT_US:41497008 xref: UMLS:C0009952 is_a: HP:0001250 ! Seizures [Term] id: HP:0002374 name: Diminished movement synonym: "Diminished movement" EXACT layperson [] xref: UMLS:C4025710 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002375 name: Hypokinesia alt_id: HP:0002603 alt_id: HP:0006795 def: "Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency." [HPO:probinson] synonym: "Decreased muscle movement" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Decreased spontaneous movement" EXACT layperson [] synonym: "Decreased spontaneous movements" EXACT layperson [] xref: MSH:D018476 xref: SNOMEDCT_US:255385008 xref: SNOMEDCT_US:43994002 xref: UMLS:C0086439 is_a: HP:0002374 ! Diminished movement [Term] id: HP:0002376 name: Developmental regression alt_id: HP:0002471 alt_id: HP:0002489 alt_id: HP:0006797 alt_id: HP:0006828 alt_id: HP:0006854 alt_id: HP:0007037 alt_id: HP:0007242 alt_id: HP:0007247 def: "Loss of developmental skills, as manifested by loss of developmental milestones." [DDD:hvfirth] comment: Developmental regression is said to occur when a child that has reached a certain psychomotor developmental stage starts to regress and to lose the acquired milestones. synonym: "Loss of developmental milestones" EXACT layperson [] synonym: "Mental deterioration in childhood" EXACT layperson [] synonym: "Neurodevelopmental regression" EXACT [] synonym: "Psychomotor regression" EXACT [] synonym: "Psychomotor regression beginning in infancy" EXACT [] synonym: "Psychomotor regression in infants" EXACT [] synonym: "Psychomotor regression, progressive" EXACT [] xref: SNOMEDCT_US:609225004 xref: UMLS:C1836550 xref: UMLS:C1836830 xref: UMLS:C1850493 xref: UMLS:C1855009 xref: UMLS:C1855019 xref: UMLS:C1855996 xref: UMLS:C1857121 xref: UMLS:C1859678 is_a: HP:0012759 ! Neurodevelopmental abnormality [Term] id: HP:0002377 name: obsolete Paraganglioma-related cranial nerve palsy is_obsolete: true replaced_by: HP:0006824 [Term] id: HP:0002378 name: Hand tremor def: "An unintentional, oscillating to-and-fro muscle movement affecting the hand." [] synonym: "Hand tremor" EXACT layperson [] synonym: "Tremor of hand" EXACT layperson [] synonym: "Tremor of hands" EXACT layperson [] synonym: "tremors in hands" EXACT layperson [] xref: UMLS:C0239842 is_a: HP:0030188 ! Tremor by anatomical site [Term] id: HP:0002380 name: Fasciculations alt_id: HP:0002468 alt_id: HP:0007092 def: "Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units." [HPO:curators] comment: This finding can be visible clinically and can be demonstrated by electromyography (EMG). synonym: "Fasciculation" EXACT [] synonym: "Muscle fasciculation" EXACT [] synonym: "Muscle twitch" EXACT layperson [https://www.nlm.nih.gov/medlineplus/ency/article/003296.htm, ORCID:0000-0001-6908-9849] xref: MSH:D005207 xref: SNOMEDCT_US:82470000 xref: UMLS:C0015644 is_a: HP:0004305 ! Involuntary movements [Term] id: HP:0002381 name: Aphasia def: "An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write." [] comment: Aphasia is caused by brain injury. The most common cause is stroke, but aphasia can also be caused by other factors such as head trauma, brain tumors, or infections. synonym: "Difficulty finding words" EXACT layperson [] synonym: "Losing words" EXACT layperson [] synonym: "Loss of words" EXACT layperson [] xref: MSH:D001037 xref: SNOMEDCT_US:87486003 xref: UMLS:C0003537 is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002383 name: Encephalitis synonym: "Brain inflammation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D004660 xref: SNOMEDCT_US:45170000 xref: UMLS:C0014038 is_a: HP:0011450 ! Unusual CNS infection [Term] id: HP:0002384 name: Focal impaired awareness seizure alt_id: HP:0002278 alt_id: HP:0011146 def: "A type of focal-onset saeizure characterized by impaired awareness. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. If awareness is impaired at any point during the seizure, the seizure is a focal impaired awareness seizure. The degree of loss of awareness may vary." [HPO:pnrobinson, PMID:28276062, PMID:28276064, PMID:9738682] comment: In the previous (1981) ILAE classification of seizure types, the term 'complex partial seizure' was used to denote a focal impaired awareness seizure. The term Dialeptic seizure referred to seizures that have as their main ictal manifestations an alteration of consciousness that is independent of ictal EEG manifestations. The term is no longer recommended according to the 2017 ILAE seizure classification. synonym: "Complex focal seizures" EXACT [] synonym: "Complex partial seizures" EXACT [] synonym: "Dialeptic seizure" RELATED [] synonym: "Dyscognitive seizures" EXACT [] synonym: "Focal impaired awareness seizures" EXACT HP:0045078 [] synonym: "Focal seizures with impairment of consciousness or awareness" EXACT HP:0045078 [] xref: SNOMEDCT_US:4103001 xref: UMLS:C0149958 xref: UMLS:C0270834 is_a: HP:0007359 ! Focal-onset seizure [Term] id: HP:0002385 name: Paraparesis def: "Weakness or partial paralysis in the lower limbs." [HPO:probinson] comment: Diseases of the spinal cord that affect motor function of the legs produce a gait characterized by both leg weakness and spasticity. synonym: "Partial paralysis of legs" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:D020335 xref: SNOMEDCT_US:1845001 xref: UMLS:C0221166 is_a: HP:0010551 ! Paraplegia/paraparesis [Term] id: HP:0002389 name: Cavum septum pellucidum alt_id: HP:0006884 alt_id: HP:0007091 alt_id: HP:0007336 def: "If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space." [HPO:curators] synonym: "Large cavum septi pellucidi" EXACT [] synonym: "Persistent cavum septum pellucidum" EXACT [] synonym: "Widened cavum septum pellucidum" EXACT [] xref: UMLS:C1840380 is_a: HP:0007375 ! Abnormality of the septum pellucidum [Term] id: HP:0002390 name: Spinal arteriovenous malformation xref: SNOMEDCT_US:261482004 xref: UMLS:C0348023 is_a: HP:0002143 ! Abnormality of the spinal cord is_a: HP:0100026 ! Arteriovenous malformation [Term] id: HP:0002392 name: EEG with polyspike wave complexes def: "The presence of complexes of repetitive spikes and waves in EEG." [HPO:jalbers] synonym: "EEG: spike and multispike waves, 3-4 hz" EXACT [] xref: UMLS:C4021757 is_a: HP:0010850 ! EEG with spike-wave complexes [Term] id: HP:0002395 name: Lower limb hyperreflexia alt_id: HP:0007245 alt_id: HP:0007288 synonym: "Brisk lower extremity reflexes" EXACT [] synonym: "Hyperreflexia in lower limbs" EXACT [] synonym: "Hyperreflexia in the lower limbs" EXACT [] synonym: "Increased deep tendon reflexes in the lower limbs" EXACT [] synonym: "Leg hyperreflexia" EXACT [] synonym: "Overactive lower leg reflex" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1836696 is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0002396 name: Cogwheel rigidity def: "A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched)." [HPO:probinson] comment: Cogwheel rigidity is a typical manifestation of Parkinson disease. xref: MSH:D009127 xref: SNOMEDCT_US:55630000 xref: UMLS:C0151564 is_a: HP:0002063 ! Rigidity [Term] id: HP:0002398 name: Degeneration of anterior horn cells alt_id: HP:0007136 alt_id: HP:0008312 synonym: "Anterior horn cell loss" EXACT [] synonym: "Degeneration of alpha-motor neurons in anterior horn cells of the spinal cord" EXACT [] synonym: "Degeneration of spinal cord anterior horn cells" EXACT [] synonym: "Loss of spinal cord anterior horn cells" EXACT [] synonym: "Progressive loss of anterior horn cells" EXACT [] synonym: "Spinal cord anterior horn cell degeneration" EXACT [] xref: UMLS:C1843505 is_a: HP:0006802 ! Abnormal anterior horn cell morphology is_a: HP:0007373 ! Motor neuron atrophy [Term] id: HP:0002401 name: Stroke-like episode def: "No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours." [PMID:22715346, PMID:23907585] comment: Stroke-like episodes are phenotypic features predominantly of mitochondrial disorders, most frequently mitochondrial encephalopathy, lactacidosis, SLE (MELAS)-syndrome, and mimic the clinical manifestations of ischemic stroke to some extent. synonym: "Stroke-like episodes" EXACT layperson [] synonym: "Strokelike episodes" EXACT HP:0045078 [] xref: UMLS:C1857287 is_a: HP:0001297 ! Stroke [Term] id: HP:0002403 name: Positive Romberg sign def: "The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception." [HPO:probinson] xref: SNOMEDCT_US:298310004 xref: UMLS:C0240914 is_a: HP:0010831 ! Impaired proprioception [Term] id: HP:0002404 name: Thickened superior cerebellar peduncle def: "Increased width of the superior cerebellar peduncle." [HPO:probinson] synonym: "Thick cerebellar peduncles" EXACT [] xref: UMLS:C4021756 is_a: HP:0011932 ! Abnormality of the superior cerebellar peduncle [Term] id: HP:0002406 name: Limb dysmetria def: "A type of dysmetria involving the limbs." [HPO:probinson] synonym: "Uncoordinated limb movement" NARROW layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1854489 xref: UMLS:C4280577 is_a: HP:0001310 ! Dysmetria [Term] id: HP:0002408 name: Cerebral arteriovenous malformation def: "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain." [] synonym: "Cerebral AV malformation" EXACT HP:0045077 [] xref: Fyler:2201 xref: MSH:D002538 xref: SNOMEDCT_US:234142008 xref: UMLS:C0917804 is_a: HP:0100026 ! Arteriovenous malformation is_a: HP:0100659 ! Abnormality of the cerebral vasculature [Term] id: HP:0002410 name: Aqueductal stenosis def: "Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum." [HPO:curators] synonym: "Aqueduct of Sylvius stenosis" EXACT [] synonym: "Aqueduct stenosis" EXACT [] synonym: "Narrowing of aqueduct of Sylvius" EXACT [https://orcid.org/0000-0002-6548-5200] xref: MSH:D006849 xref: UMLS:C2936786 is_a: HP:0002118 ! Abnormality of the cerebral ventricles [Term] id: HP:0002411 name: Myokymia def: "Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle." [PMID:21501741] comment: Myokymia is characterized electrophysiologically by rhythmic or semi-rhythmic bursts of a single motor unit discharging several times a second at a rate of 3-8 Hz. These myokymic discharges are nonsynchronous in different muscles or even in the same muscle, with intervals of 100-200 milliseconds separating individual bursts. The spontaneous discharges are not initiated by voluntary movement, although they may increase with such activity. xref: MSH:D020385 xref: SNOMEDCT_US:27678003 xref: UMLS:C0684219 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002414 name: Spina bifida def: "Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele." [HPO:probinson] synonym: "Split spine" BROAD layperson [http://www.mayoclinic.org/diseases-conditions/spina-bifida/basics/definition/con-20035356?utm_source=google&utm_medium=abstract&utm_content=spina-bifida&utm_campaign=knowledge-panel, ORCID:0000-0001-5208-3432] xref: Fyler:4157 xref: MSH:D016135 xref: SNOMEDCT_US:67531005 xref: UMLS:C0080178 is_a: HP:0010301 ! Spinal dysraphism [Term] id: HP:0002415 name: Leukodystrophy def: "Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes." [HPO:probinson] comment: The deterioration coincides with clinical regression of skills, and in the most severe cases neurological devastation. Leukodystrophy should be distinguished from leukoencephalopathy (defect causing secondary myelin damage). Note that the term leukodystrophy is most often used to refer to a disease rather than a phenotypic feature, and a more precise description is to be preferred if possible. synonym: "Degeneration of white matter of brain" EXACT [https://en.wikipedia.org/wiki/leukodystrophy, ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:192781003 xref: UMLS:C0023520 is_a: HP:0011400 ! Abnormal CNS myelination [Term] id: HP:0002416 name: Subependymal cysts def: "Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life." [HPO:probinson, PMID:12423490] comment: In the vast majority of cases, a simple persistence of the germinal matrix is proposed to explain their presence in asymptomatic preterm neonates. Viral infections, mainly with CMV and rubella, are commonly found when the pseudocysts are associated with other abnormalities of the central nervous system. The pseudocysts are then often multilocular. xref: UMLS:C1833431 is_a: HP:0002118 ! Abnormality of the cerebral ventricles is_a: HP:0010576 ! Intracranial cystic lesion [Term] id: HP:0002418 name: Abnormality of midbrain morphology def: "An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct." [HPO:probinson] synonym: "Abnormal shape of midbrain" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the mesencephalon" EXACT [] synonym: "Abnormality of the midbrain" EXACT layperson [] xref: UMLS:C4021755 is_a: HP:0012443 ! Abnormality of brain morphology [Term] id: HP:0002419 name: Molar tooth sign on MRI def: "An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth." [HPO:probinson, pmid:14657304] comment: Molar tooth appearance results from a lack of normal decussation of superior cerebellar peduncular fiber tracts which in turn leads to enlargement of the peduncles, which also follow a more horizontal course. The absence of crossing fibers also leads to a reduction in the anteroposterior diameter of the midbrain and deepening of the interpeduncular cistern. synonym: "'molar tooth sign' on brain imaging'" EXACT [] synonym: "'molar tooth' sign on imaging" EXACT [] synonym: "Molar tooth sign" EXACT [] xref: UMLS:C1865060 is_a: HP:0002418 ! Abnormality of midbrain morphology [Term] id: HP:0002421 name: Poor head control def: "Difficulty to maintain correct position of the head while standing or sitting." [HPO:probinson] synonym: "Poor head control" EXACT layperson [] xref: UMLS:C1836038 is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0002423 name: Long-tract signs comment: Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions. synonym: "Long tract signs" EXACT [] xref: UMLS:C1865903 is_a: HP:0002143 ! Abnormality of the spinal cord [Term] id: HP:0002425 name: Anarthria def: "A defect in the motor ability that enables speech." [HPO:curators] synonym: "Loss of articulate speech" EXACT layperson [http://dictionary.reference.com/browse/anarthria, ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:48257004 xref: UMLS:C0234517 is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002427 name: Motor aphasia def: "Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it." [HPO:probinson] synonym: "Broca's aphasia" EXACT [https://en.wikipedia.org/wiki/aphasia, ORCID:0000-0001-5208-3432] synonym: "Expressive aphasia" EXACT [https://en.wikipedia.org/wiki/aphasia, ORCID:0000-0001-5208-3432] synonym: "Loss of expressive speech" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D001039 xref: SNOMEDCT_US:229654003 xref: SNOMEDCT_US:229665008 xref: SNOMEDCT_US:328681008 xref: UMLS:C0003550 xref: UMLS:C0917814 is_a: HP:0002381 ! Aphasia [Term] id: HP:0002435 name: Meningocele def: "Protrusion of the meninges through a defect of the vertebral column." [HPO:sdoelken] xref: MSH:D008588 xref: SNOMEDCT_US:171131006 xref: UMLS:C0025299 is_a: HP:0002414 ! Spina bifida is_a: HP:0010651 ! Abnormal meningeal morphology [Term] id: HP:0002436 name: Occipital meningocele def: "A herniation of meninges through a congenital bone defect in the skull in the occipital region." [HPO:probinson] xref: SNOMEDCT_US:445468002 xref: UMLS:C1848652 is_a: HP:0002435 ! Meningocele [Term] id: HP:0002438 name: Cerebellar malformation xref: UMLS:C4025708 is_a: HP:0001317 ! Abnormal cerebellum morphology [Term] id: HP:0002439 name: Frontolimbic dementia xref: UMLS:C1836151 is_a: HP:0000726 ! Dementia [Term] id: HP:0002442 name: Dyscalculia def: "A specific learning disability involving mathematics and arithmetic." [DDD:probinson] synonym: "Difficulty making arithmetical calculations" BROAD layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:47916000 xref: UMLS:C1411876 xref: UMLS:C4280576 is_a: HP:0001328 ! Specific learning disability [Term] id: HP:0002444 name: Hypothalamic hamartoma def: "The presence of a hamartoma of the hypothalamus." [HPO:curators] comment: Hypothalamic hamartoma is a malformation, not a tumor. Hypothalamic hamartomas grow at the rate of, or slower than, the surrounding brain tissue. A hamartoma of the hypothalamus appears as a non-enhancing mass in the floor of the third ventricle posterior to the optic chiasm that is isointense to grey matter on T1 and T2 pulse sequences of an MRI, but may have distinct intensity on FLAIR (neither cranial CT examination nor cranial ultrasound examination is adequate for diagnosis of hypothalamic hamartom). Individuals with hypothalamic hamartomas may have neurologic symptoms, although most are asymptomatic. Removal of the hypothalamic hamartoma is not indicated and often results in iatrogenic pituitary insufficiency. xref: MSH:C537158 xref: SNOMEDCT_US:237714006 xref: UMLS:C0342418 is_a: HP:0009731 ! Cerebral hamartoma is_a: HP:0012286 ! Abnormal hypothalamus morphology [Term] id: HP:0002445 name: Tetraplegia alt_id: HP:0010552 def: "Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord." [HPO:probinson] synonym: "Paralysis of all four limbs" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Quadriplegia" EXACT [] xref: MSH:D011782 xref: SNOMEDCT_US:11538006 xref: UMLS:C0034372 is_a: HP:0030182 ! Tetraplegia/tetraparesis [Term] id: HP:0002446 name: Astrocytosis def: "Proliferation of astrocytes in the area of a lesion of the central nervous system." [HPO:probinson] synonym: "Increase in astrocyte number" BROAD [ORCID:0000-0001-5208-3432] xref: MSH:D005911 xref: SNOMEDCT_US:81415000 xref: UMLS:C3887640 is_a: HP:0100705 ! Abnormality of the glial cells [Term] id: HP:0002448 name: Progressive encephalopathy synonym: "Progressive brain disease" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1838578 xref: UMLS:C4280575 is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0002450 name: Abnormal motor neuron morphology def: "Any structural anomaly that affects the motor neuron." [] synonym: "Abnormal shape of motor neuron" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025707 is_a: HP:0012757 ! Abnormal neuron morphology [Term] id: HP:0002451 name: Limb dystonia def: "A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs." [HPO:probinson] xref: MSH:D004421 xref: UMLS:C0751093 is_a: HP:0001332 ! Dystonia [Term] id: HP:0002453 name: Abnormal globus pallidus morphology alt_id: HP:0007040 def: "An abnormality of the globus pallidus." [HPO:probinson] comment: The globus pallidus is a cerebral nucleus located medially to the putamen and laterally to the internal capsule. xref: UMLS:C4025706 is_a: HP:0002134 ! Abnormality of the basal ganglia [Term] id: HP:0002454 name: Eye of the tiger anomaly of globus pallidus def: "The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity if the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance." [HPO:probinson, pmid:11110959, PMID:19881070] comment: This sign is observed upon magnetic resonance tomography (MRI). It can be seen in several diseases including Hallervorden-Spatz syndrome, where the pathophysiology has been hypothesized to be related to iron deposition in the globus pallidus (associated with low signal intensity on T2-weighted images) accompanied by other pathological processes such as gliosis and water accumulation that are responsible for the high signal intensity at the central globus pallidus. xref: UMLS:C4025705 is_a: HP:0002453 ! Abnormal globus pallidus morphology [Term] id: HP:0002457 name: Abnormal head movements synonym: "Abnormal head movements" EXACT layperson [] xref: SNOMEDCT_US:271799000 xref: UMLS:C0476217 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002459 name: obsolete Dysautonomia is_obsolete: true replaced_by: HP:0012332 [Term] id: HP:0002460 name: Distal muscle weakness alt_id: HP:0002598 alt_id: HP:0002935 alt_id: HP:0003497 alt_id: HP:0006940 alt_id: HP:0009008 def: "Reduced strength of the musculature of the distal extremities." [HPO:probinson] comment: Typically, at onset the lower limbs are more affected than upper limbs. The distribution of weakness is often roughly symmetric. synonym: "Distal limb muscle weakness" EXACT [] synonym: "Distal limb muscle weakness due to peripheral neuropathy" RELATED [HPO:skoehler] synonym: "Distal limb weakness" EXACT [] synonym: "Distal muscular weakness" EXACT [] synonym: "Distal paresis" EXACT [] synonym: "Muscle weakness, distal" EXACT [] synonym: "Muscle weakness, distal limbs, due to neuronopathy" EXACT [] synonym: "Weakness of distal muscles" EXACT [] synonym: "Weakness of outermost muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:249942005 xref: UMLS:C0427065 xref: UMLS:C1864696 is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0002461 name: Dense calcifications in the cerebellar dentate nucleus xref: UMLS:C1859273 is_a: HP:0007352 ! Cerebellar calcifications is_a: HP:0100321 ! Abnormality of the dentate nucleus [Term] id: HP:0002463 name: Language impairment def: "Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations." [ISBN:9780890425558] synonym: "Language disorder" RELATED [] synonym: "Language impairment" EXACT layperson [] xref: MSH:D007806 xref: SNOMEDCT_US:62305002 xref: UMLS:C0023015 is_a: HP:0011446 ! Abnormality of higher mental function [Term] id: HP:0002464 name: Spastic dysarthria def: "A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality." [HPO:probinson] synonym: "Rigid dysarthria" EXACT [http://medical-dictionary.thefreedictionary.com/spastic+dysarthria, ORCID:0000-0001-5208-3432] xref: MSH:D004401 xref: SNOMEDCT_US:229684006 xref: UMLS:C0454596 is_a: HP:0001257 ! Spasticity is_a: HP:0001260 ! Dysarthria [Term] id: HP:0002465 name: Poor speech synonym: "Difficulty speaking" RELATED layperson [] synonym: "Poor speech" EXACT layperson [] synonym: "Problems speaking" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1848207 xref: UMLS:C4280574 is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002470 name: Nonprogressive cerebellar ataxia xref: UMLS:C1845029 is_a: HP:0001251 ! Ataxia [Term] id: HP:0002472 name: Small cerebral cortex alt_id: HP:0006791 alt_id: HP:0007151 def: "Reduced size of the cerebral cortex." [HPO:probinson] synonym: "Decreased volume of cerebral cortex" EXACT [] xref: UMLS:C1837503 is_a: HP:0002538 ! Abnormality of the cerebral cortex [Term] id: HP:0002474 name: Expressive language delay alt_id: HP:0007192 def: "A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts." [HPO:probinson] synonym: "Communication delay" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Deficit in expressive language" EXACT [] xref: SNOMEDCT_US:229734008 xref: UMLS:C0454641 xref: UMLS:C1847610 xref: UMLS:C4280573 is_a: HP:0000750 ! Delayed speech and language development [Term] id: HP:0002475 name: Myelomeningocele def: "Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column." [HPO:probinson] comment: Meningomyelocele can result if more than one or two vertebral bodies are affected by spina bifida. The meningomyelocele is usually covered by a thin, vulnerable membrane. Meningomyelocele is generally accompanied by neurological deficits. synonym: "Meningomyelocele" EXACT [] synonym: "Spina bifida cystica" EXACT [HPO:sdoelken] xref: Fyler:4309 xref: MSH:D008591 xref: SNOMEDCT_US:203994003 xref: SNOMEDCT_US:414667000 xref: UMLS:C0025312 is_a: HP:0002435 ! Meningocele [Term] id: HP:0002476 name: Primitive reflex def: "The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant." [PMID:12700289] synonym: "Archaic reflex" EXACT [] synonym: "Primitive reflexes" EXACT [] xref: UMLS:C1838319 is_a: HP:0031826 ! Abnormal reflex [Term] id: HP:0002478 name: Progressive spastic quadriplegia synonym: "Progressive spastic quadriparesis" EXACT [] xref: UMLS:C1859736 is_a: HP:0002191 ! Progressive spasticity [Term] id: HP:0002480 name: Hepatic encephalopathy def: "Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes." [HPO:probinson] xref: MSH:D006501 xref: SNOMEDCT_US:13920009 xref: SNOMEDCT_US:449902003 xref: UMLS:C0019151 is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0002483 name: Bulbar signs xref: UMLS:C1856507 is_a: HP:0012638 ! Abnormality of nervous system physiology [Term] id: HP:0002486 name: Myotonia alt_id: HP:0003632 alt_id: HP:0003754 alt_id: HP:0003792 def: "An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation." [HPO:probinson] comment: Patients often describe myotonia as stiffness that is worse at the onset of activity and that improves with repeated muscle contractions. Myotonia tends to worsen in cold weather. Myotonia can be elicited by voluntary muscle contraction of by muscle percussion (e.g., by tapping the thenar eminence). During physical examination, myotonia may be elicited by asking the patient to make a tight fist and then quickly open the hand. Myotonia is caused by an abnormality in the muscle membrane, i.e., of the ion channels that control the contraction of muscle fibers. synonym: "Delayed relaxation of muscle fibers after contraction" EXACT [] xref: MSH:D009222 xref: SNOMEDCT_US:3434004 xref: UMLS:C0027125 is_a: HP:0011804 ! Abnormal muscle physiology [Term] id: HP:0002487 name: Hyperkinesis def: "Motor hyperactivity with excessive movement of muscles of the body as a whole." [HPO:probinson] synonym: "Hyperkinesia" EXACT [] synonym: "Muscle spasms" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D006948 xref: MSH:D013035 xref: SNOMEDCT_US:44548000 xref: SNOMEDCT_US:45352006 xref: UMLS:C0037763 xref: UMLS:C0424295 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002488 name: Acute leukemia def: "A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts)." [NCIT:C9300] synonym: "Acute blood cancer" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Acute leukemias" EXACT [] xref: SNOMEDCT_US:24072005 xref: SNOMEDCT_US:91855006 xref: UMLS:C0085669 xref: UMLS:C4280572 is_a: HP:0001909 ! Leukemia created_by: peter creation_date: 2008-03-27T10:32:00Z [Term] id: HP:0002490 name: Increased CSF lactate def: "Increased concentration of lactate in the cerebrospinal fluid." [HPO:curators] synonym: "Hyperlactatorachia" EXACT [] synonym: "Increased cerebrospinal fluid lactate" EXACT [] synonym: "Increased CSF lactic acid" EXACT [] xref: UMLS:C1167918 is_a: HP:0030085 ! Abnormal CSF lactate level [Term] id: HP:0002491 name: Spasticity of facial muscles alt_id: HP:0000313 def: "Spasticity of one or more muscles innervated by the facial nerve." [] comment: Spasticity of facial muscles can result in slow oral movements that are imprecise and require a lot of effort. synonym: "Increased stiffness of facial muscles" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Increased tone of facial muscles" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Spasticity of the facial muscles" EXACT [] xref: UMLS:C1853404 xref: UMLS:C4280570 xref: UMLS:C4280571 is_a: HP:0000301 ! Abnormality of facial musculature is_a: HP:0001257 ! Spasticity [Term] id: HP:0002492 name: Abnormality of the corticospinal tract alt_id: HP:0006912 def: "Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord." [HPO:probinson] synonym: "Involvement of the corticospinal pathways" RELATED [] xref: UMLS:C4020852 xref: UMLS:C4025704 is_a: HP:0002062 ! Morphological abnormality of the pyramidal tract [Term] id: HP:0002493 name: Upper motor neuron dysfunction def: "A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs." [HPO:probinson] comment: A functional deficit of the tract that conveys nervous impulses from the motor cortex of the brain to the spinal cord. The corticospinal tract mediates discrete voluntary skilled movements. Clinical features of corticospinal tract dysfunction may include spasticity and weakness, particularly affecting the lower limbs, as well as hyperreflexia, clonus at the ankles and knees, and extensor plantar responses (Babinski response). synonym: "Corticospinal tract dysfunction" EXACT [] synonym: "Pyramidal tract dysfunction" EXACT [] xref: UMLS:C1504405 xref: UMLS:C1839042 is_a: HP:0011442 ! Abnormality of central motor function [Term] id: HP:0002494 name: Abnormal rapid eye movement sleep def: "Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements." [HPO:curators] synonym: "Abnormal REM sleep" EXACT [] xref: SNOMEDCT_US:69020003 xref: UMLS:C0392188 is_a: HP:0002360 ! Sleep disturbance [Term] id: HP:0002495 name: Impaired vibratory sensation alt_id: HP:0006836 alt_id: HP:0007116 def: "A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient." [HPO:probinson] comment: Impaired vibratory sensation may suggesti involvement of the posterior column-medial lemniscus pathway, which is responsible for transmitting fine touch, vibration and conscious proprioceptive information from the body to the cerebral cortex. synonym: "Decreased vibration sense" EXACT layperson [] synonym: "Decreased vibratory sense" EXACT layperson [] synonym: "Diminished vibratory sense" EXACT layperson [] synonym: "Impaired vibratory sensation" EXACT layperson [] synonym: "Impaired vibratory sense" EXACT layperson [] xref: SNOMEDCT_US:130980003 xref: UMLS:C1295585 is_a: HP:0003474 ! Sensory impairment [Term] id: HP:0002497 name: Spastic ataxia xref: MSH:C564815 xref: UMLS:C1849156 is_a: HP:0001251 ! Ataxia [Term] id: HP:0002500 name: Abnormality of the cerebral white matter alt_id: HP:0200100 def: "An abnormality of the cerebral white matter." [HPO:probinson] comment: This finding can be demonstrated by magnetic resonance imaging, especially with t2 signalling. The cerebral white matter is the region of the central nervous system that consists mostly of glial cells and myelinated axons that interconnect the various regions of the cerebrum and the lower brain centers. It is located in the subcortex. synonym: "Abnormality of subcortical white matter" EXACT [] synonym: "Cerebral white matter abnormalities" EXACT [] synonym: "Cortical white matter abnormalities seen on MRI" RELATED [HPO:skoehler] synonym: "Leukoaraiosis" EXACT [pmid:3800716] synonym: "White matter abnormalities" EXACT [] synonym: "White matter alterations" EXACT [] xref: MSH:D049292 xref: UMLS:C0948163 xref: UMLS:C4020851 is_a: HP:0010993 ! Abnormality of the cerebral subcortex [Term] id: HP:0002501 name: Spasticity of pharyngeal muscles xref: UMLS:C1853398 is_a: HP:0001257 ! Spasticity [Term] id: HP:0002503 name: Spinocerebellar tract degeneration synonym: "Degeneration of the spinocerebellar tracts" EXACT [] synonym: "Spinocerebellar degeneration" EXACT [] xref: UMLS:C1866751 is_a: HP:0003133 ! Abnormality of the spinocerebellar tracts [Term] id: HP:0002504 name: Calcification of the small brain vessels def: "Deposition of calcium salts within small blood vessels of the brain." [HPO:probinson] comment: This finding can be made upon neuropathologic examination. xref: UMLS:C4025703 is_a: HP:0009145 ! Abnormal cerebral artery morphology is_a: HP:0031306 ! Intracranial arterial calcification [Term] id: HP:0002505 name: Progressive inability to walk synonym: "Progressive inability to walk" EXACT layperson [] xref: UMLS:C1836843 is_a: HP:0002540 ! Inability to walk [Term] id: HP:0002506 name: Diffuse cerebral atrophy alt_id: HP:0006954 def: "Diffuse unlocalised atrophy affecting the cerebrum." [HPO:sdoelken] synonym: "Cerebral atrophy, diffuse" EXACT [] xref: UMLS:C0598275 is_a: HP:0002059 ! Cerebral atrophy [Term] id: HP:0002507 name: Semilobar holoprosencephaly def: "A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." [gc:hpe] xref: MSH:D016142 xref: SNOMEDCT_US:253138008 xref: UMLS:C0751617 is_a: HP:0001360 ! Holoprosencephaly [Term] id: HP:0002508 name: Brainstem dysplasia alt_id: HP:0006991 def: "A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord." [HPO:probinson] synonym: "Brainstem hypoplasia/dysplasia" EXACT [] synonym: "Malformation of brainstem structures" EXACT [] xref: UMLS:C1855677 is_a: HP:0002363 ! Abnormality of brainstem morphology [Term] id: HP:0002509 name: Limb hypertonia synonym: "Increased muscle tone of arm or leg" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1838391 is_a: HP:0001276 ! Hypertonia is_a: HP:0009127 ! Abnormality of the musculature of the limbs [Term] id: HP:0002510 name: Spastic tetraplegia alt_id: HP:0001280 def: "Spastic paralysis affecting all four limbs." [HPO:probinson] synonym: "Spastic quadriplegia" EXACT [] xref: MSH:D011782 xref: SNOMEDCT_US:192965001 xref: UMLS:C0426970 is_a: HP:0001257 ! Spasticity [Term] id: HP:0002511 name: Alzheimer disease alt_id: HP:0006878 alt_id: HP:0007213 def: "A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads." [HPO:probinson] comment: Note that this is a bundled term that refers to a disease rather than to phenotypic features. It is retained for convenience since Alzheimer disease is used for annotation of other diseases (e.g., Down syndrome) as if it were a feature. If possible it is preferable to annotate with the precise phenotypic features. synonym: "Alzheimer disease" EXACT layperson [] synonym: "Late-onset form of familial Alzheimer disease" EXACT layperson [] xref: MSH:C536595 xref: MSH:D000544 xref: SNOMEDCT_US:230267005 xref: SNOMEDCT_US:26929004 xref: UMLS:C0002395 xref: UMLS:C1863051 is_a: HP:0002011 ! Morphological abnormality of the central nervous system [Term] id: HP:0002512 name: Brain stem compression xref: SNOMEDCT_US:25816005 xref: SNOMEDCT_US:5582005 xref: UMLS:C0270680 is_a: HP:0002363 ! Abnormality of brainstem morphology [Term] id: HP:0002514 name: Cerebral calcification alt_id: HP:0002502 alt_id: HP:0005806 alt_id: HP:0006848 def: "The presence of calcium deposition within brain structures." [HPO:probinson] comment: This finding can be demonstrated upon cerebral computer tomography, magnetic resonance imaging, or potentially by standard radiography of the skull. synonym: "Abnormal deposits of calcium in the brain" EXACT layperson [orcid.org/0000-0002-6548-5200] synonym: "Brain calcification" EXACT [] synonym: "Intracerebral calcifications" EXACT [] synonym: "Intracranial calcification" EXACT [] synonym: "Intracranial calcifications" EXACT [] xref: SNOMEDCT_US:17944005 xref: UMLS:C0270685 is_a: HP:0002060 ! Abnormality of the cerebrum is_a: HP:0010766 ! Ectopic calcification [Term] id: HP:0002515 name: Waddling gait def: "Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck." [PMID:27770207] synonym: "'Waddling' gait" EXACT layperson [] synonym: "Waddling walk" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D020233 xref: SNOMEDCT_US:271706000 xref: UMLS:C0231712 is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002516 name: Increased intracranial pressure def: "An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid." [HPO:probinson] comment: Normal values of intracranial pressure in adults are around 7-15 mm Hg in the supine position. The term pseudotumor cerebri (also: idiopathic intracranial hypertension or benign intracranial hypertension) is the presence of increased intracranial pressure in the absence of a brain tumor or other identifiable cause. It should be coded using this term and negations of appropriate other HPO terms. Increased intracranial pressure can damage tissue, contribute to hydrocephalus, cause brain herniation, and restrict blood supply to the brain. synonym: "Intracranial hypertension" EXACT [] synonym: "Intracranial pressure elevation" EXACT [] synonym: "Rise in pressure inside skull" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D019586 xref: SNOMEDCT_US:271719001 xref: UMLS:C0151740 is_a: HP:0012640 ! Abnormality of intracranial pressure [Term] id: HP:0002518 name: Abnormality of the periventricular white matter synonym: "Periventricular white matter abnormalities" RELATED [HPO:skoehler] xref: UMLS:C2673431 is_a: HP:0002352 ! Leukoencephalopathy is_a: HP:0002500 ! Abnormality of the cerebral white matter [Term] id: HP:0002519 name: Hypnagogic hallucinations xref: MSH:D006212 xref: SNOMEDCT_US:44780000 xref: UMLS:C0233773 is_a: HP:0000738 ! Hallucinations [Term] id: HP:0002521 name: Hypsarrhythmia def: "Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG)." [HPO:curators] synonym: "Hypsarrhythmia by EEG" EXACT [] xref: MSH:D013036 xref: SNOMEDCT_US:28055006 xref: UMLS:C0684276 is_a: HP:0011198 ! EEG with generalized epileptiform discharges [Term] id: HP:0002522 name: Areflexia of lower limbs def: "Inability to elicit tendon reflexes in the lower limbs." [HPO:probinson] synonym: "Absent lower limb tendon reflexes" EXACT [] synonym: "Areflexia in lower limbs" EXACT [] synonym: "Areflexia of the lower limbs" EXACT [] synonym: "Areflexia, lower limbs" EXACT [] xref: UMLS:C1856694 is_a: HP:0001284 ! Areflexia is_a: HP:0002814 ! Abnormality of the lower limb [Term] id: HP:0002524 name: Cataplexy alt_id: HP:0002428 alt_id: HP:0002525 def: "A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions." [HPO:probinson, pmid:21931493, pmid:22249574] comment: Cataplexy is a frequent feature of narcolepsy, a neurologic disorder characterized by excessive daytime sleepiness and manifestations of disrupted rapid eye movement sleep stage. xref: MSH:D002385 xref: SNOMEDCT_US:46263000 xref: UMLS:C0007384 is_a: HP:0012638 ! Abnormality of nervous system physiology [Term] id: HP:0002526 name: Deficit in nonword repetition def: "Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory." [HPO:probinson] xref: UMLS:C4025702 is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002527 name: Falls synonym: "Falls" EXACT layperson [] xref: SNOMEDCT_US:161898004 xref: SNOMEDCT_US:1912002 xref: UMLS:C0085639 is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002528 name: Granulovacuolar degeneration comment: Degeneration of hippocampal cells characterized by basophilic granules surrounded by a clear zone in hippocampal neurons. Frequently occurs in Alzheimers disease. xref: SNOMEDCT_US:90506004 xref: UMLS:C0333454 is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0002529 name: Neuronal loss in central nervous system alt_id: HP:0002400 comment: This finding can be demonstrated by neuropathology. synonym: "Loss of brain cells" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Neuronal loss" EXACT [] synonym: "Neuronal loss in CNS" EXACT HP:0045077 [] xref: UMLS:C1850496 is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system [Term] id: HP:0002530 name: Axial dystonia def: "A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles." [HPO:probinson] xref: UMLS:C1836149 is_a: HP:0001332 ! Dystonia [Term] id: HP:0002533 name: Abnormal posturing def: "Involuntary flexion or extension of the arms and legs." [HPO:probinson] xref: SNOMEDCT_US:43029002 xref: UMLS:C0231471 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002536 name: Abnormal cortical gyration alt_id: HP:0006900 def: "An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain." [HPO:curators] synonym: "Abnormal gyration" EXACT [] synonym: "Cerebral gyral anomalies" EXACT [] xref: UMLS:C1856019 is_a: HP:0002269 ! Abnormality of neuronal migration is_a: HP:0002538 ! Abnormality of the cerebral cortex [Term] id: HP:0002538 name: Abnormality of the cerebral cortex def: "An abnormality of the cerebral cortex." [HPO:probinson] xref: UMLS:C4025701 is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0002539 name: Cortical dysplasia alt_id: HP:0007139 def: "The presence of developmental dysplasia of the cerebral cortex." [HPO:probinson] synonym: "Neocortical dysplasia" EXACT [] xref: MSH:D054220 xref: SNOMEDCT_US:253153000 xref: UMLS:C0431380 is_a: HP:0002538 ! Abnormality of the cerebral cortex [Term] id: HP:0002540 name: Inability to walk def: "Incapability to ambulate." [HPO:probinson] synonym: "Inability to walk" EXACT layperson [] synonym: "Non-ambulatory" EXACT [] xref: SNOMEDCT_US:282145008 xref: UMLS:C0560046 is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002542 name: Olivopontocerebellar atrophy alt_id: HP:0005683 def: "Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus." [HPO:probinson] synonym: "Olivopontocerebellar degeneration" EXACT [] xref: MSH:D009849 xref: SNOMEDCT_US:67761004 xref: UMLS:C0028968 is_a: HP:0001317 ! Abnormal cerebellum morphology [Term] id: HP:0002544 name: Retrocollis def: "A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture." [HPO:probinson, pmid:17917462] comment: Retrocollis is a spasmodic form of torticollis in which the head is drawn back. xref: UMLS:C3887667 is_a: HP:0000473 ! Torticollis [Term] id: HP:0002545 name: Patchy demyelination of subcortical white matter def: "Patchy loss of myelin from nerve fibers in the central nervous system." [HPO:probinson] xref: UMLS:C1857638 is_a: HP:0007305 ! CNS demyelination [Term] id: HP:0002546 name: Incomprehensible speech synonym: "Incomprehensible speech" EXACT layperson [] xref: UMLS:C1838027 is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002548 name: Parkinsonism with favorable response to dopaminergic medication def: "Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication." [] synonym: "Favorable response to levodopa" RELATED [] xref: UMLS:C1846868 is_a: HP:0001300 ! Parkinsonism [Term] id: HP:0002549 name: Deficit in phonologic short-term memory xref: UMLS:C1847609 is_a: HP:0002354 ! Memory impairment [Term] id: HP:0002550 name: Absent facial hair def: "Absence of facial hair." [HPO:probinson] synonym: "Absent facial hair" EXACT layperson [] xref: UMLS:C1848192 is_a: HP:0002298 ! Absent hair [Term] id: HP:0002552 name: Trichodysplasia alt_id: HP:0004515 def: "Developmental dysplasia of the hair." [HPO:probinson] synonym: "Generalized trichodysplasia" RELATED [] xref: UMLS:C4020850 xref: UMLS:C4025700 is_a: HP:0001595 ! Abnormal hair morphology [Term] id: HP:0002553 name: Highly arched eyebrow alt_id: HP:0001584 alt_id: HP:0004533 alt_id: HP:0007681 alt_id: HP:0007804 alt_id: HP:0008505 def: "Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape." [pmid:19125427] comment: Most eyebrows have some arch with downturning medially and laterally. subset: hposlim_core synonym: "Arched eyebrows" EXACT layperson [] synonym: "Bowed and upward slanting eyebrows" RELATED layperson [] synonym: "Broad, arched eyebrows" EXACT layperson [] synonym: "High arched eyebrows" RELATED layperson [HPO:skoehler] synonym: "High, rounded eyebrows" EXACT layperson [] synonym: "High-arched eyebrows" EXACT layperson [] synonym: "Highly arched eyebrow" EXACT layperson [] synonym: "Thick, flared eyebrows" EXACT layperson [] xref: UMLS:C1868571 xref: UMLS:C4020849 is_a: HP:0000534 ! Abnormal eyebrow morphology [Term] id: HP:0002555 name: Absent pubic hair alt_id: HP:0004537 alt_id: HP:0004556 def: "Absence of pubic hair." [HPO:probinson] subset: hposlim_core synonym: "Absent pubic hair" EXACT layperson [] xref: UMLS:C1859391 is_a: HP:0002298 ! Absent hair is_a: HP:0100133 ! Abnormality of the pubic hair [Term] id: HP:0002557 name: Hypoplastic nipples alt_id: HP:0002560 alt_id: HP:0003188 alt_id: HP:0006652 def: "Underdevelopment of the nipple." [HPO:probinson] synonym: "Nipple hypoplasia" EXACT [] synonym: "Small nipples" EXACT layperson [] xref: SNOMEDCT_US:268290005 xref: UMLS:C0432355 is_a: HP:0006709 ! Aplasia/Hypoplasia of the nipples [Term] id: HP:0002558 name: Supernumerary nipple alt_id: HP:0002559 def: "Presence of more than two nipples." [HPO:probinson] subset: hposlim_core synonym: "accessory mamilla" EXACT [] synonym: "accessory mamillas" RELATED [] synonym: "Accessory nipple" EXACT layperson [] synonym: "Accessory nipples" RELATED layperson [] synonym: "Increased nipple number" EXACT [ORCID:0000-0001-5208-3432] synonym: "Supernumerary nipples" RELATED [] xref: Fyler:4234 xref: MSH:C562557 xref: SNOMEDCT_US:50956007 xref: UMLS:C0266011 is_a: HP:0004404 ! Abnormal nipple morphology [Term] id: HP:0002561 name: Absent nipple def: "Congenital failure to develop, and absence of, the nipple." [] comment: This finding can be unilateral or bilateral. synonym: "Absent nipple" EXACT layperson [] synonym: "Absent nipples" EXACT layperson [] synonym: "Athelia" EXACT [] xref: SNOMEDCT_US:248820000 xref: UMLS:C0425795 is_a: HP:0006709 ! Aplasia/Hypoplasia of the nipples [Term] id: HP:0002562 name: Low-set nipples def: "Placement of the nipples at a lower than normal location." [HPO:probinson] subset: hposlim_core synonym: "Low-set nipples" EXACT layperson [] xref: UMLS:C1836933 is_a: HP:0004404 ! Abnormal nipple morphology [Term] id: HP:0002563 name: Constrictive pericarditis def: "Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium." [HPO:probinson] xref: MSH:D010494 xref: SNOMEDCT_US:85598007 xref: UMLS:C0031048 is_a: HP:0001701 ! Pericarditis [Term] id: HP:0002564 name: obsolete Malformation of the heart and great vessels is_obsolete: true replaced_by: HP:0030680 [Term] id: HP:0002566 name: Intestinal malrotation alt_id: HP:0002026 def: "An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis." [HPO:probinson, pmid:12438031] subset: hposlim_core synonym: "Gut malrotation" RELATED [HPO:skoehler] synonym: "Malrotation" EXACT [] xref: MEDDRA:10064024 "Intestinal malrotation" xref: MSH:C562456 xref: SNOMEDCT_US:253789002 xref: SNOMEDCT_US:29980002 xref: SNOMEDCT_US:48641006 xref: UMLS:C0221210 is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0002570 name: Steatorrhea def: "Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats." [HPO:probinson] synonym: "Fat in feces" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:D045602 xref: SNOMEDCT_US:27868004 xref: SNOMEDCT_US:66187002 xref: UMLS:C0038238 is_a: HP:0002630 ! Fat malabsorption [Term] id: HP:0002571 name: Achalasia def: "A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus." [HPO:probinson] comment: Achalasia may lead to regurgitation of food, chest pain, cough, and difficulty swallowing. subset: hposlim_core synonym: "Achalasia of the esophagus" EXACT [] xref: MEDDRA:10030136 "Oesophageal achalasia" xref: MSH:D004931 xref: SNOMEDCT_US:45564002 xref: UMLS:C0014848 is_a: HP:0031857 ! Ineffective esophageal peristalsis [Term] id: HP:0002572 name: Episodic vomiting def: "Paroxysmal, recurrent episodes of vomiting." [HPO:curators] synonym: "Episodic vomiting" EXACT layperson [] synonym: "Frequent vomiting" RELATED layperson [HPO:skoehler] xref: UMLS:C1838993 xref: UMLS:C1857202 is_a: HP:0002013 ! Vomiting [Term] id: HP:0002573 name: Hematochezia alt_id: HP:0002255 alt_id: HP:0002609 def: "The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus." [DDD:hfirth] comment: Bright red blood in stool, most frequentoly caused by hemorrhoids or diverticulosis. synonym: "Rectal bleeding" EXACT layperson [] synonym: "Recurrent rectal bleeding" RELATED layperson [HPO:skoehler] xref: MSH:D006471 xref: SNOMEDCT_US:236068001 xref: SNOMEDCT_US:405729008 xref: UMLS:C0018932 is_a: HP:0002239 ! Gastrointestinal hemorrhage is_a: HP:0025085 ! Bloody diarrhea [Term] id: HP:0002574 name: Episodic abdominal pain def: "An intermittent form of abdominal pain." [HPO:probinson] synonym: "Intermittent abdominal pain" RELATED layperson [] xref: UMLS:C0262527 xref: UMLS:C3808022 is_a: HP:0002027 ! Abdominal pain is_a: HP:0032148 ! Episodic pain [Term] id: HP:0002575 name: Tracheoesophageal fistula def: "An abnormal connection (fistula) between the esophagus and the trachea." [HPO:probinson] subset: hposlim_core synonym: "Abnormal connection between trachea and esophagus" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: Fyler:4202 xref: MEDDRA:10044310 "Tracheo-oesophageal fistula" xref: MSH:D014138 xref: SNOMEDCT_US:95435007 xref: UMLS:C0040588 is_a: HP:0002031 ! Abnormal esophagus morphology is_a: HP:0002778 ! Abnormal trachea morphology [Term] id: HP:0002576 name: Intussusception def: "An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine." [HPO:probinson] comment: Intussusception can lead to intestinal obstruction as well as to the interruption of the blood supply to the intestine. It can affect small or large bowel. subset: hposlim_core xref: MEDDRA:10022863 "Intussusception" xref: MSH:D007443 xref: SNOMEDCT_US:35327006 xref: SNOMEDCT_US:49723003 xref: UMLS:C0021933 is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0002577 name: Abnormality of the stomach def: "An abnormality of the stomach." [HPO:probinson] comment: The stomach the hollow, muscular organ of the gastrointestinal tract between the esophagus and the small intestine. xref: UMLS:C4025699 is_a: HP:0012718 ! Morphological abnormality of the gastrointestinal tract [Term] id: HP:0002578 name: Gastroparesis def: "Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction." [HPO:probinson] subset: hposlim_core synonym: "Delayed gastric emptying" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D018589 xref: SNOMEDCT_US:196753007 xref: SNOMEDCT_US:235675006 xref: UMLS:C0152020 is_a: HP:0002577 ! Abnormality of the stomach is_a: HP:0011804 ! Abnormal muscle physiology [Term] id: HP:0002579 name: Gastrointestinal dysmotility def: "Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes." [HPO:probinson] subset: hposlim_core synonym: "GI dysmotility" EXACT HP:0045077 [] xref: UMLS:C1836923 is_a: HP:0030895 ! Abnormal gastrointestinal motility [Term] id: HP:0002580 name: Volvulus def: "Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue." [HPO:probinson] comment: Volvulus can lead to intestinal obstruction and ischemia. xref: MSH:D045822 xref: SNOMEDCT_US:90738007 xref: SNOMEDCT_US:9707006 xref: UMLS:C0042961 is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0002582 name: Chronic atrophic gastritis def: "A form of chronic gastritis associated with atrophic gastric mucous membrane." [HPO:probinson] comment: Over time, chronic gastritis leads to atrophy of the gastric mucosa. Thus, chronic atrophc gastritis can represent an end stage of chronic gastritis. xref: MSH:D005757 xref: SNOMEDCT_US:84568007 xref: UMLS:C0017154 is_a: HP:0005231 ! Chronic gastritis [Term] id: HP:0002583 name: Colitis def: "Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases." [HPO:sdoelken] xref: MSH:D003092 xref: SNOMEDCT_US:64226004 xref: UMLS:C0009319 is_a: HP:0002037 ! Inflammation of the large intestine [Term] id: HP:0002584 name: Intestinal bleeding def: "Bleeding from the intestines." [DDD:akelly] synonym: "Intestinal bleeding" EXACT layperson [] synonym: "Intestinal hemorrhage" EXACT [] xref: SNOMEDCT_US:712510007 xref: UMLS:C0267373 is_a: HP:0002239 ! Gastrointestinal hemorrhage is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0002585 name: Abnormality of the peritoneum def: "An abnormality of the peritoneum." [HPO:probinson] comment: The peritoneum is the thin tissue that lines the inner wall of the abdomen and covers most of the abdominal organs. xref: UMLS:C4025698 is_a: HP:0002012 ! Abnormality of the abdominal organs [Term] id: HP:0002586 name: Peritonitis alt_id: HP:0100591 def: "Inflammation of the peritoneum." [HPO:probinson] synonym: "Inflammation of the peritoneum" EXACT [] xref: MSH:D010538 xref: SNOMEDCT_US:48661000 xref: UMLS:C0031154 is_a: HP:0002585 ! Abnormality of the peritoneum is_a: HP:0045073 ! Serositis [Term] id: HP:0002587 name: Projectile vomiting def: "Vomiting that ejects the gastric contents with great force." [HPO:probinson] synonym: "Projectile vomiting" EXACT layperson [] xref: SNOMEDCT_US:8579004 xref: UMLS:C0221151 is_a: HP:0002013 ! Vomiting [Term] id: HP:0002588 name: Duodenal ulcer def: "An erosion of the mucous membrane of in a portion of the duodenum." [HPO:probinson] subset: hposlim_core xref: MEDDRA:10013836 "Duodenal ulcer" xref: MSH:D004381 xref: SNOMEDCT_US:367474008 xref: SNOMEDCT_US:51868009 xref: UMLS:C0013295 is_a: HP:0002246 ! Abnormality of the duodenum [Term] id: HP:0002589 name: Gastrointestinal atresia synonym: "GI atresia" EXACT HP:0045077 [] xref: UMLS:C4025697 is_a: HP:0012718 ! Morphological abnormality of the gastrointestinal tract [Term] id: HP:0002590 name: Paralytic ileus xref: MSH:D007418 xref: SNOMEDCT_US:55525008 xref: UMLS:C0030446 is_a: HP:0002595 ! Ileus [Term] id: HP:0002591 name: Polyphagia alt_id: HP:0000724 alt_id: HP:0002042 def: "A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat." [HPO:probinson] synonym: "Hyperphagia" EXACT [] synonym: "Increased appetite" RELATED layperson [] synonym: "Voracious appetite" EXACT layperson [] xref: MSH:D006963 xref: SNOMEDCT_US:267023007 xref: SNOMEDCT_US:58424009 xref: SNOMEDCT_US:72405004 xref: UMLS:C0020505 xref: UMLS:C0232461 is_a: HP:0100738 ! Abnormal eating behavior [Term] id: HP:0002592 name: Gastric ulcer def: "An ulcer, that is, an erosion of an area of the gastric mucous membrane." [HPO:probinson] comment: The presence of a mucosal erosion equal to or greater than 0.5 cm. subset: hposlim_core synonym: "Stomach ulcer" EXACT layperson [] xref: MEDDRA:10017822 "Gastric ulcer" xref: MSH:D013276 xref: SNOMEDCT_US:397825006 xref: UMLS:C0038358 is_a: HP:0004295 ! Abnormality of the gastric mucosa is_a: HP:0004398 ! Peptic ulcer [Term] id: HP:0002593 name: Intestinal lymphangiectasia def: "Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines." [HPO:probinson] xref: MSH:D008201 xref: SNOMEDCT_US:197260007 xref: UMLS:C0024215 is_a: HP:0002242 ! Abnormal intestine morphology is_a: HP:0031842 ! Lymphangiectasis [Term] id: HP:0002594 name: Pancreatic hypoplasia alt_id: HP:0005221 def: "Hypoplasia of the pancreas." [HPO:probinson] comment: Hypoplasia is defined in MPATH as resulting in a small organ or structure owing to failure to develop to normal size. synonym: "Hypoplastic pancreas" EXACT [] synonym: "Underdeveloped pancreas" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:68591005 xref: UMLS:C0266267 is_a: HP:0100800 ! Aplasia/Hypoplasia of the pancreas [Term] id: HP:0002595 name: Ileus def: "Acute obstruction of the intestines preventing passage of the contents of the intestines." [HPO:sdoelken] subset: hposlim_core synonym: "Gastrointestinal atony" EXACT [ORCID:0000-0001-5208-3432] xref: MEDDRA:10021328 "Ileus" xref: MSH:D045823 xref: UMLS:C1258215 is_a: HP:0002579 ! Gastrointestinal dysmotility is_a: HP:0005214 ! Intestinal obstruction [Term] id: HP:0002597 name: Abnormality of the vasculature def: "An abnormality of the vasculature." [HPO:probinson] synonym: "Abnormality of blood vessels" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the vasculature" EXACT layperson [] synonym: "Vascular abnormalities" EXACT layperson [] xref: UMLS:C0241657 is_a: HP:0001626 ! Abnormality of the cardiovascular system [Term] id: HP:0002599 name: Head titubation def: "A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction." [HPO:probinson] comment: Titubation often accompanies midline cerebellar lesions. The 3-4 per second frequency of titubation is faster than the head nodding/bobbing that can be seen with thalamic lesions. The original description of head titubation in 1899 by Gowers (see pmid:4821687) was: As the disease progresses, some jerky irregularity develops in the movement\nof the neck and head so that the head presents slight movements, sometimes like an irregular tremor, sometimes simulating chorea. xref: UMLS:C1608410 is_a: HP:0002346 ! Head tremor is_a: HP:0002457 ! Abnormal head movements is_a: HP:0030187 ! Titubation [Term] id: HP:0002600 name: Hyporeflexia of lower limbs alt_id: HP:0006861 def: "Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping." [HPO:probinson] comment: Reflexes are sensorimotor arcs that require some type of sensory (afferent) signal, and some motor response. While the simplest of reflexes involve direct synapse between the sensory fiber and the motor neuron (monosynaptic), many reflexes have several neurons interposed (polysynaptic reflexes). Hyporeflexia can result from a defect anywhere in this chain. synonym: "Hyporeflexia in lower limbs" EXACT [] synonym: "Hyporeflexia of the lower limbs" EXACT [] synonym: "Hyporeflexia, lower limbs" EXACT [] synonym: "Hyporeflexia/areflexia in lower limbs" EXACT [] xref: UMLS:C1834696 is_a: HP:0001265 ! Hyporeflexia is_a: HP:0002814 ! Abnormality of the lower limb [Term] id: HP:0002601 name: Paresis of extensor muscles of the big toe xref: UMLS:C4025696 is_a: HP:0001844 ! Abnormality of the hallux is_a: HP:0002460 ! Distal muscle weakness [Term] id: HP:0002604 name: Gastrointestinal telangiectasia def: "Telangiectasia affecting the gastrointestinal tract." [HPO:probinson] comment: Telangiectasia affecting stomach, duodenum, small bowel, and/or colon. synonym: "GI telangiectasia" EXACT HP:0045077 [] synonym: "Small, enlarged blood vessels near skin" EXACT layperson [ORCID:0000-0002-6548-5200] xref: UMLS:C1619711 is_a: HP:0004296 ! Abnormality of gastrointestinal vasculature is_a: HP:0100579 ! Mucosal telangiectasiae [Term] id: HP:0002605 name: Hepatic necrosis def: "The presence of necrosis affecting the liver." [HPO:probinson] xref: SNOMEDCT_US:87248009 xref: UMLS:C0151798 is_a: HP:0410042 ! Abnormal liver morphology created_by: peter creation_date: 2008-02-20T11:32:00Z [Term] id: HP:0002607 name: Bowel incontinence alt_id: HP:0007147 def: "Involuntary fecal soiling in adults and children who have usually already been toilet trained." [HPO:sdoelken] synonym: "Anal incontinence" EXACT [] synonym: "Fecal incontinence" EXACT [] synonym: "Loss of bowel control" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D005242 xref: SNOMEDCT_US:72042002 xref: UMLS:C0015732 is_a: HP:0012700 ! Abnormal large intestine physiology is_a: HP:0031064 ! Impaired continence [Term] id: HP:0002608 name: Celiac disease def: "Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurence of CD is seen as a feature of a number of other diseases." [HPO:probinson, pmid:23681421] synonym: "Celiac disease" EXACT layperson [] synonym: "Celiac sprue" EXACT [] xref: MSH:D002446 xref: SNOMEDCT_US:396331005 xref: UMLS:C0007570 is_a: HP:0002244 ! Abnormality of the small intestine is_a: HP:0100326 ! Immunologic hypersensitivity [Term] id: HP:0002611 name: Cholestatic liver disease xref: UMLS:C0860204 is_a: HP:0001396 ! Cholestasis [Term] id: HP:0002612 name: Congenital hepatic fibrosis def: "The presence of fibrosis of that part of the liver with congenital onset." [HPO:probinson] comment: Congenital hepatic fibrosis is characterized by enlarged portal tracts with extensive fibrosis and numerous bile ductules that communicate with the bile tree. The affected area tends to be sharply demarcated from normal liver parenchyma and does not display regenerative nodules (which distinguished the condition from cirrhosis). synonym: "Excessive buildup of connective tissue and scarring of liver at birth" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:C562378 xref: SNOMEDCT_US:79607001 xref: UMLS:C0009714 is_a: HP:0001395 ! Hepatic fibrosis [Term] id: HP:0002613 name: Biliary cirrhosis def: "Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease." [HPO:probinson] synonym: "Primary biliary cirrhosis" RELATED [] xref: MSH:D008105 xref: SNOMEDCT_US:1761006 xref: SNOMEDCT_US:31712002 xref: UMLS:C0008312 xref: UMLS:C0023892 is_a: HP:0012440 ! Abnormal biliary tract morphology [Term] id: HP:0002614 name: Hepatic periportal necrosis def: "A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein." [HPO:probinson] xref: UMLS:C0546389 is_a: HP:0002605 ! Hepatic necrosis [Term] id: HP:0002615 name: Hypotension alt_id: HP:0005127 alt_id: HP:0006701 def: "Low Blood Pressure, vascular hypotension." [HPO:probinson] synonym: "Arterial hypotension" EXACT [] synonym: "Low blood pressure" EXACT layperson [] xref: MSH:D007022 xref: SNOMEDCT_US:45007003 xref: UMLS:C0020649 is_a: HP:0030972 ! Abnormal systemic blood pressure [Term] id: HP:0002616 name: Aortic root aneurysm alt_id: HP:0002631 alt_id: HP:0004750 alt_id: HP:0005125 def: "An abnormal localized widening (dilatation) of the aortic root." [] synonym: "Aortic root dilatation" BROAD [] synonym: "Bulge in wall of root of large artery that carries blood away from heart" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Increased aortic root diameter" EXACT [] xref: SNOMEDCT_US:251036003 xref: UMLS:C0238669 is_a: HP:0012727 ! Thoracic aortic aneurysm [Term] id: HP:0002617 name: Dilatation def: "Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart." [HPO:probinson] comment: Aneurysm is considered a severe form of dilatation. synonym: "Aneurysm" NARROW layperson [] synonym: "Aneurysmal dilatation" EXACT [ORCID:0000-0001-5208-3432] synonym: "Aneurysmal disease" RELATED layperson [] synonym: "Aneurysms" NARROW layperson [HPO:skoehler] synonym: "Wider than typical opening or gap" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: Fyler:2399 xref: MSH:D000783 xref: SNOMEDCT_US:432119003 xref: SNOMEDCT_US:85659009 xref: UMLS:C0002940 xref: UMLS:C4020848 is_a: HP:0025015 ! Abnormal vascular morphology [Term] id: HP:0002619 name: Varicose veins def: "Enlarged and tortuous veins." [HPO:probinson] xref: MSH:D014648 xref: SNOMEDCT_US:128060009 xref: SNOMEDCT_US:12856003 xref: SNOMEDCT_US:399989005 xref: UMLS:C0042345 is_a: HP:0005293 ! Venous insufficiency [Term] id: HP:0002621 name: Atherosclerosis def: "A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow." [HPO:probinson] comment: Strictly speaking, atherosclerosis is a specific type of arteriosclerosis ('hardening of the arteries'), although the terms are sometimes used interchangeably in clinical jargon. synonym: "Atherosclerotic cardiovascular disease" EXACT [http://www.mayoclinic.org/diseases-conditions/arteriosclerosis-atherosclerosis/basics/definition/con-20026972?utm_source=google&utm_medium=abstract&utm_content=atherosclerosis&utm_campaign=knowledge-panel, ORCID:0000-0001-5208-3432] synonym: "Narrowing and hardening of arteries" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Plaque build-up in arteries" BROAD layperson [ORCID:0000-0001-5208-3432] xref: MSH:D050197 xref: SNOMEDCT_US:38716007 xref: UMLS:C0004153 xref: UMLS:C4280569 is_a: HP:0002634 ! Arteriosclerosis [Term] id: HP:0002622 name: obsolete Dissecting aortic dilatation is_obsolete: true replaced_by: HP:0002647 [Term] id: HP:0002623 name: Overriding aorta def: "An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle." [HPO:curators] synonym: "Dextroposition of aorta" EXACT [] synonym: "Overriding aortic valve" EXACT [] xref: Fyler:1432 xref: SNOMEDCT_US:63934006 xref: UMLS:C0011818 xref: UMLS:C0265886 is_a: HP:0001679 ! Abnormal aortic morphology [Term] id: HP:0002624 name: Abnormal venous morphology def: "An anomaly of vein." [HPO:probinson] synonym: "Abnormal vein" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Venous abnormality" EXACT [] xref: UMLS:C0241665 is_a: HP:0025015 ! Abnormal vascular morphology [Term] id: HP:0002625 name: Deep venous thrombosis def: "Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected." [HPO:probinson] synonym: "Blood clot in a deep vein" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Deep vein thrombosis" EXACT [] synonym: "Multiple deep venous thrombosis" EXACT [] xref: MSH:D020246 xref: SNOMEDCT_US:128053003 xref: UMLS:C0149871 is_a: HP:0004936 ! Venous thrombosis [Term] id: HP:0002626 name: Venous varicosities of celiac and mesenteric vessels def: "Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein." [HPO:probinson] xref: UMLS:C1857692 is_a: HP:0002619 ! Varicose veins [Term] id: HP:0002627 name: Right aortic arch with mirror image branching def: "The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery." [DDD:dbrown, HPO:sdoelken] xref: UMLS:C4025695 is_a: HP:0012020 ! Right aortic arch [Term] id: HP:0002629 name: Gastrointestinal arteriovenous malformation def: "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract." [] synonym: "GI arteriovenous malformation" EXACT HP:0045077 [] xref: UMLS:C0744321 is_a: HP:0004296 ! Abnormality of gastrointestinal vasculature is_a: HP:0100026 ! Arteriovenous malformation [Term] id: HP:0002630 name: Fat malabsorption def: "Abnormality of the absorption of fat from the gastrointestinal tract." [HPO:probinson] xref: SNOMEDCT_US:197494007 xref: UMLS:C0554103 is_a: HP:0002024 ! Malabsorption is_a: HP:0002244 ! Abnormality of the small intestine [Term] id: HP:0002631 name: obsolete Dilatation of ascending aorta is_obsolete: true replaced_by: HP:0002616 [Term] id: HP:0002632 name: Low-to-normal blood pressure synonym: "Low-to-normal blood pressure" EXACT layperson [] synonym: "Low-to-normal BP" EXACT HP:0045077 [] xref: UMLS:C1866500 is_a: HP:0002615 ! Hypotension [Term] id: HP:0002633 name: Vasculitis def: "Inflammation of blood vessel." [HPO:probinson] synonym: "Angiitis" EXACT [ORCID:0000-0001-5208-3432] synonym: "Inflammation of blood vessel" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D014657 xref: SNOMEDCT_US:31996006 xref: UMLS:C0042384 is_a: HP:0025015 ! Abnormal vascular morphology [Term] id: HP:0002634 name: Arteriosclerosis def: "Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity." [HPO:probinson] comment: Although arteriosclerosis and atherosclerosis are often used as if they were synonyms, they are not. Atherosclerosis is the most common type of arteriosclerosis, and is caused by plaque building up in the vessel, which in turn causes sclerosis, increased stiffness, and loss of elasticity of the affected arteries. synonym: "Hardened artery wall" BROAD layperson [ORCID:0000-0001-5208-3432] xref: MSH:D001161 xref: SNOMEDCT_US:107671003 xref: SNOMEDCT_US:28960008 xref: SNOMEDCT_US:72092001 xref: UMLS:C0003850 xref: UMLS:C4280568 is_a: HP:0011004 ! Abnormal systemic arterial morphology [Term] id: HP:0002635 name: Type IV atherosclerotic lesion def: "In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion." [PMID:7648691] synonym: "Atheromatosis" RELATED [] xref: MSH:D050197 xref: SNOMEDCT_US:38716007 xref: UMLS:C0004153 is_a: HP:0031678 ! Atherosclerotic lesion [Term] id: HP:0002636 name: Dilatation of an abdominal artery def: "Abnormal outpouching or sac-like dilatation in an artery that originates from he abdominal aorta." [HPO:probinson] comment: Aneurysm is considered a severe form of dilatation. synonym: "Aneurysm of an abdominal artery" NARROW [] xref: UMLS:C4025694 is_a: HP:0002617 ! Dilatation is_a: HP:0011004 ! Abnormal systemic arterial morphology [Term] id: HP:0002637 name: Cerebral ischemia synonym: "Brain ischemia" EXACT [ORCID:0000-0001-5208-3432] synonym: "Cerebrovascular ischemia" EXACT [ORCID:0000-0001-5208-3432] synonym: "Disruption of blood oxygen supply to brain" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D002545 xref: SNOMEDCT_US:287731003 xref: SNOMEDCT_US:389100007 xref: UMLS:C0007786 xref: UMLS:C0917798 is_a: HP:0009145 ! Abnormal cerebral artery morphology is_a: HP:0100545 ! Arterial stenosis [Term] id: HP:0002638 name: Superficial thrombophlebitis def: "Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein)." [HPO:probinson] xref: SNOMEDCT_US:2477008 xref: UMLS:C1510431 is_a: HP:0004418 ! Thrombophlebitis [Term] id: HP:0002639 name: Budd-Chiari syndrome def: "Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience." [HPO:probinson, pmid:16265183] xref: MSH:D006502 xref: SNOMEDCT_US:82385007 xref: UMLS:C0856761 is_a: HP:0030846 ! Abnormality of venous physiology [Term] id: HP:0002640 name: Hypertension associated with pheochromocytoma def: "A type of hypertension associated with pheochromocytoma." [HPO:probinson] xref: UMLS:C4025693 is_a: HP:0000822 ! Hypertension [Term] id: HP:0002641 name: Peripheral thrombosis synonym: "Peripheral blood clot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1849749 is_a: HP:0001977 ! Abnormal thrombosis [Term] id: HP:0002642 name: Arteriovenous fistulas of celiac and mesenteric vessels xref: UMLS:C1857693 is_a: HP:0002624 ! Abnormal venous morphology is_a: HP:0004947 ! Arteriovenous fistula [Term] id: HP:0002643 name: Neonatal respiratory distress def: "Respiratory difficulty as newborn." [HPO:probinson] synonym: "Infantile respiratory distress" EXACT layperson [] synonym: "Neonatal respiratory distress" EXACT layperson [] synonym: "Newborn respiratory distress" EXACT layperson [] synonym: "Respiratory distress, neonatal" EXACT layperson [] xref: UMLS:C0852283 is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0002644 name: Abnormality of pelvic girdle bone morphology def: "An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs." [HPO:probinson] synonym: "Abnormal shape of pelvic girdle bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the pelvic girdle" RELATED [] xref: UMLS:C4020847 is_a: HP:0011844 ! Abnormal appendicular skeleton morphology [Term] id: HP:0002645 name: Wormian bones def: "The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium." [HPO:probinson] comment: Irregular, solated bones in the lambdoidal suture or at the fontanelles. subset: hposlim_core synonym: "Extra bones within cranial sutures" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Intra sutural bones" EXACT [ORCID:0000-0001-5889-4463] synonym: "Intrasutural bones" EXACT [ORCID:0000-0001-5889-4463] synonym: "Islands of bone within cranial sutures" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:113194005 xref: UMLS:C0222716 is_a: HP:0011329 ! Abnormality of cranial sutures [Term] id: HP:0002647 name: Aortic dissection alt_id: HP:0002622 def: "Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta." [HPO:curators] synonym: "Tear in inner wall of large artery that carries blood away from heart" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:308546005 xref: UMLS:C0340643 is_a: HP:0001679 ! Abnormal aortic morphology [Term] id: HP:0002648 name: Abnormality of calvarial morphology def: "The presence of an abnormal shape of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain." [DDD:awilkie, HPO:probinson] synonym: "Abnormal cranium morphology" EXACT [] synonym: "Abnormality of cranial bone morphology" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of skull bone morphology" BROAD [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the shape of calvarium" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the shape of cranium" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the shape of skull bones" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormally shaped skull" EXACT layperson [ORCID:0000-0002-9353-5498] xref: UMLS:C4025692 xref: UMLS:C4280260 is_a: HP:0002683 ! Abnormality of the calvaria [Term] id: HP:0002650 name: Scoliosis alt_id: HP:0002770 alt_id: HP:0003303 alt_id: HP:0003317 alt_id: HP:0003415 def: "The presence of an abnormal lateral curvature of the spine." [HPO:probinson] subset: hposlim_core synonym: "Abnormal curving of the spine" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Curvature of spine" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Curved spine" BROAD layperson [ORCID:0000-0001-5208-3432] xref: Fyler:4160 xref: MSH:D013121 xref: SNOMEDCT_US:111266001 xref: SNOMEDCT_US:64217002 xref: UMLS:C0037932 xref: UMLS:C0700208 is_a: HP:0010674 ! Abnormality of the curvature of the vertebral column [Term] id: HP:0002651 name: Spondyloepimetaphyseal dysplasia xref: SNOMEDCT_US:254062008 xref: UMLS:C0432211 is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0002652 name: Skeletal dysplasia alt_id: HP:0005685 def: "A general term describing features characterized by abnormal development of bones and connective tissues." [HPO:probinson] comment: The word skeletal dysplasia is most often used to describe a group of over 380 inherited conditions that involve abnormal development of bones and connective tissues. However, the word can also be used to describe the presence of a congenital defects of bones or connective tissues that are found in one or more of the diseases, especially on prenatal ultrasound, i.e., a situation in which it is often not yet possible to make an exact etiological diagnosis. This is the sense of the phrase we use in the HPO. It is, however, preferable to annotate the observed abnormalities. synonym: "Abnormal skeletal development" BROAD layperson [ORCID:0000-0001-5208-3432] xref: MSH:D010009 xref: SNOMEDCT_US:105985007 xref: SNOMEDCT_US:240190009 xref: UMLS:C0029422 xref: UMLS:C4280567 is_a: HP:0011842 ! Abnormality of skeletal morphology [Term] id: HP:0002653 name: Bone pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone." [] synonym: "Bone pain" EXACT layperson [] xref: SNOMEDCT_US:12584003 xref: UMLS:C0151825 is_a: HP:0011843 ! Abnormality of skeletal physiology is_a: HP:0012531 ! Pain [Term] id: HP:0002654 name: Multiple epiphyseal dysplasia xref: MSH:D010009 xref: SNOMEDCT_US:59708000 xref: UMLS:C0026760 is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0002655 name: Spondyloepiphyseal dysplasia alt_id: HP:0002776 alt_id: HP:0005893 def: "A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses)." [HPO:probinson] synonym: "Spondyloepiphyseal dysplasia tarda" EXACT [] xref: MSH:D010009 xref: UMLS:C0038015 is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0002656 name: Epiphyseal dysplasia synonym: "Abnormal development of end part of bone" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormal development of the ends of long bones in arms and legs" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:254080004 xref: UMLS:C0392476 xref: UMLS:C4280566 is_a: HP:0002652 ! Skeletal dysplasia is_a: HP:0005930 ! Abnormality of epiphysis morphology [Term] id: HP:0002657 name: Spondylometaphyseal dysplasia xref: MSH:C537501 xref: SNOMEDCT_US:702350003 xref: UMLS:C0700635 is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0002659 name: Increased susceptibility to fractures alt_id: HP:0002662 alt_id: HP:0002798 alt_id: HP:0005710 alt_id: HP:0005783 alt_id: HP:0005931 def: "An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture." [HPO:sdoelken] comment: This is a bundled term that will be made obsolete. synonym: "Abnormal susceptibility to fractures" EXACT layperson [] synonym: "Bone fragility" EXACT layperson [] synonym: "Frequent broken bones" EXACT layperson [] synonym: "Increased bone fragility" EXACT layperson [] synonym: "Increased susceptibility to fractures" EXACT layperson [] synonym: "Increased tendency to fractures" EXACT layperson [] xref: UMLS:C1390474 is_a: HP:0011843 ! Abnormality of skeletal physiology [Term] id: HP:0002661 name: Painless fractures due to injury def: "An increased tendency to fractures following trauma, with fractures occurring without pain." [HPO:curators] synonym: "Painless fractures due to injury" EXACT layperson [] xref: UMLS:C1837602 is_a: HP:0002659 ! Increased susceptibility to fractures is_a: HP:0010832 ! Abnormality of pain sensation [Term] id: HP:0002663 name: Delayed epiphyseal ossification alt_id: HP:0005862 synonym: "Delayed epiphyseal maturation" EXACT [] synonym: "Delayed epiphyseal ossification" EXACT [] synonym: "Delayed maturation of end part of long bone" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Delayed opacification of the epiphyses" EXACT [] synonym: "Epiphyseal ossification delay" EXACT [] xref: UMLS:C1865200 xref: UMLS:C4280565 is_a: HP:0005930 ! Abnormality of epiphysis morphology is_a: HP:0010656 ! Abnormal epiphyseal ossification [Term] id: HP:0002664 name: Neoplasm alt_id: HP:0003008 alt_id: HP:0006741 def: "An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour)." [HPO:probinson] comment: The World Health Organization (WHO) classifies neoplasms into four main groups: (i) benign neoplasm, (ii) in situ neoplasm, (iii) malignant neoplasm, and (iv) neoplasm of uncertain or unknown behavior. A malignant neoplasm is also known as cancer. synonym: "Abnormal tissue mass" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Cancer" RELATED layperson [] synonym: "Neoplasia" EXACT [] synonym: "Oncological abnormality" EXACT [] synonym: "Oncology" RELATED [HPO:probinson] synonym: "Tumor" EXACT [] synonym: "Tumour" EXACT [] xref: MSH:D009369 xref: NCIT:C3262 xref: SNOMEDCT_US:108369006 xref: SNOMEDCT_US:363346000 xref: UMLS:C0006826 xref: UMLS:C0027651 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0002665 name: Lymphoma def: "A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells." [HPO:probinson] synonym: "Cancer of lymphatic system" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D008223 xref: NCIT:C7065 xref: SNOMEDCT_US:115244002 xref: SNOMEDCT_US:118600007 xref: SNOMEDCT_US:188676008 xref: SNOMEDCT_US:21964009 xref: UMLS:C0024299 is_a: HP:0004377 ! Hematological neoplasm [Term] id: HP:0002666 name: Pheochromocytoma def: "Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines." [HPO:probinson] synonym: "Chromaffin tumors" EXACT [ORCID:0000-0001-5208-3432] xref: MSH:D010673 xref: NCIT:C3326 xref: SNOMEDCT_US:302835009 xref: SNOMEDCT_US:399343007 xref: SNOMEDCT_US:85583005 xref: UMLS:C0031511 is_a: HP:0100634 ! Neuroendocrine neoplasm [Term] id: HP:0002667 name: Nephroblastoma alt_id: HP:0000115 def: "The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children." [HPO:probinson] comment: Nephroblastoma is characterized by an abnormal proliferation of the metanephric blastema cells, which are believed to be primitive embryologic cells of the kidney. Clinically, nephroblatoma usually presents as an abdominal mass, and in some cases with abdominal pain, hypertension, hematuria, and fever. synonym: "Wilm's tumor" EXACT [] synonym: "Wilms tumor" EXACT [] xref: MSH:D009396 xref: NCIT:C40407 xref: SNOMEDCT_US:25081006 xref: SNOMEDCT_US:302849000 xref: UMLS:C0027708 is_a: HP:0011794 ! Embryonal renal neoplasm [Term] id: HP:0002668 name: Paraganglioma alt_id: HP:0002670 alt_id: HP:0003004 def: "A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation." [HPO:probinson] synonym: "Carotid body tumors" EXACT [] synonym: "Paragangliomas" EXACT [HPO:skoehler] xref: MSH:D010235 xref: NCIT:C3308 xref: SNOMEDCT_US:127027008 xref: SNOMEDCT_US:253029009 xref: SNOMEDCT_US:302833002 xref: SNOMEDCT_US:72787006 xref: SNOMEDCT_US:803009 xref: UMLS:C0030421 is_a: HP:0100634 ! Neuroendocrine neoplasm [Term] id: HP:0002669 name: Osteosarcoma def: "A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor." [HPO:probinson] synonym: "Bone cell cancer" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Osteogenic sarcoma" EXACT [] xref: MSH:D012516 xref: NCIT:C9145 xref: SNOMEDCT_US:21708004 xref: SNOMEDCT_US:307576001 xref: UMLS:C0029463 is_a: HP:0010622 ! Neoplasm of the skeletal system is_a: HP:0100242 ! Sarcoma [Term] id: HP:0002671 name: Basal cell carcinoma def: "The presence of a basal cell carcinoma of the skin." [HPO:sdoelken] comment: A basal cell carcinoma is the most common type of skin cancer which rarely metastasizes, but is still considered malignant because it can cause significant destruction and disfigurement by invading surrounding tissues. In 80 percent of all cases, basal cell cancers are found on the head and neck or on other sun-exposed areas of the body. Apart from sporadic basal cell carcinoma, there are hereditary conditions such as the basal cell nevus syndrome where patients develop multiple basal cell carcinomas throughout life. synonym: "Basal cell carcinomas" EXACT [] synonym: "Basal cell epithelioma" EXACT [] synonym: "Basal cell nevus" EXACT [] synonym: "Basalioma" EXACT [] xref: MSH:D002280 xref: NCIT:C2921 xref: SNOMEDCT_US:1338007 xref: SNOMEDCT_US:254701007 xref: SNOMEDCT_US:275265005 xref: UMLS:C0007117 xref: UMLS:C1862314 is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0002672 name: Gastrointestinal carcinoma synonym: "GI carcinoma" EXACT HP:0045077 [] xref: UMLS:C0151544 is_a: HP:0006749 ! Malignant gastrointestinal tract tumors [Term] id: HP:0002673 name: Coxa valga def: "Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults)." [HPO:probinson] synonym: "Coxa valga deformity" RELATED [HPO:skoehler] xref: MSH:D060906 xref: SNOMEDCT_US:299236004 xref: UMLS:C0239137 xref: UMLS:C3549698 is_a: HP:0003367 ! Abnormality of the femoral neck [Term] id: HP:0002676 name: Cloverleaf skull alt_id: HP:0004477 alt_id: HP:0005459 def: "Trilobar skull configuration when viewed from the front or behind." [pmid:19125436] comment: A deformity of the skull that resembles a cloverleaf and is characterized by very prominent temporal bones with constriction of the remainder of the cranium. Cloverleaf skull is commonly accompanied by hydrocephalus. subset: hposlim_core synonym: "Cloverleaf cranium shape" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Cloverleaf skull shape" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Kleeblattschaedel" EXACT [] synonym: "Trilobar cranium shape" BROAD [ORCID:0000-0001-5889-4463] synonym: "Trilobar skull shape" BROAD [ORCID:0000-0001-5889-4463] xref: UMLS:C1860050 xref: UMLS:C4280564 is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0002677 name: Small foramen magnum alt_id: HP:0005468 def: "An abnormal narrowing of the foramen magnum." [HPO:probinson] comment: The foramen magnum is the aperture through which the medulla oblongata enters and exits the skull. Stenosis of the foramen magnum can represent a risk for compression to the spinal cord. subset: hposlim_core synonym: "Foramen magnum stenosis" EXACT [] synonym: "Hypoplasia of foramen magnum" NARROW [ORCID:0000-0001-5889-4463] synonym: "Little foramen magnum" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Narrow foramen magnum" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Stenosis of foramen magnum" NARROW [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:444879009 xref: UMLS:C1535953 xref: UMLS:C1861217 xref: UMLS:C4072838 is_a: HP:0002699 ! Abnormality of the foramen magnum [Term] id: HP:0002678 name: Skull asymmetry synonym: "Abnormality of skull shape" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Asymmetry of skull" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of skull shape" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Skull asymmetry" EXACT layperson [] synonym: "Unequal skull shape" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Uneven skull shape" BROAD layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:248372000 xref: UMLS:C0424690 xref: UMLS:C4280562 xref: UMLS:C4280563 is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0002679 name: Abnormality of the sella turcica def: "Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the hypophysial fossa" NARROW [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the pituitary fossa" NARROW [ORCID:0000-0001-5889-4463] synonym: "Anomaly of the hypophysial fossa" NARROW [ORCID:0000-0001-5889-4463] synonym: "Anomaly of the pituitary fossa" NARROW [ORCID:0000-0001-5889-4463] synonym: "Anomaly of the sella turcica" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4021754 xref: UMLS:C4072839 is_a: HP:0000929 ! Abnormal skull morphology [Term] id: HP:0002680 name: J-shaped sella turcica def: "A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull." [HPO:pnrobinson] subset: hposlim_core synonym: "Hour glass shaped hypophysial fossa" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hour glass shaped pituitary fossa" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hour glass shaped sella turcica" EXACT [ORCID:0000-0001-5889-4463] synonym: "J-shaped hypophysial fossa" NARROW [ORCID:0000-0001-5889-4463] synonym: "J-shaped pituitary fossa" NARROW [ORCID:0000-0001-5889-4463] synonym: "J-shaped sella" EXACT [ORCID:0000-0001-5889-4463] synonym: "Omega shaped hypophysial fossa" NARROW [ORCID:0000-0001-5889-4463] synonym: "Omega shaped pituitary fossa" NARROW [ORCID:0000-0001-5889-4463] synonym: "Omega shaped sella turcica" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1854718 xref: UMLS:C4072841 xref: UMLS:C4072842 is_a: HP:0002681 ! Deformed sella turcica [Term] id: HP:0002681 name: Deformed sella turcica synonym: "Abnormal shape of hypophysial fossa" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormal shape of pituitary fossa" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormal shape of sella turcica" EXACT [ORCID:0000-0001-5889-4463] synonym: "Deformity of hypophysial fossa" EXACT [ORCID:0000-0001-5889-4463] synonym: "Deformity of pituitary fossa" EXACT [ORCID:0000-0001-5889-4463] synonym: "Malformation of hypophysial fossa" EXACT [ORCID:0000-0001-5889-4463] synonym: "Malformation of pituitary fossa" EXACT [ORCID:0000-0001-5889-4463] synonym: "Malformation of sella turcica" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1846437 is_a: HP:0002679 ! Abnormality of the sella turcica [Term] id: HP:0002682 name: Broad skull def: "Increased width of the skull." [HPO:probinson] synonym: "Broad cranium" EXACT [ORCID:0000-0001-5889-4463] synonym: "Broad skull" EXACT layperson [] synonym: "Increased width of cranium" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased width of skull" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Wide cranium" EXACT [ORCID:0000-0001-5889-4463] synonym: "Wide skull" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:248374004 xref: UMLS:C0424693 is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0002683 name: Abnormality of the calvaria def: "Abnormality of the calvaria, which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone." [HPO:probinson] comment: The calvaria, or skull cap, is the upper part of the skull (cranium) and comprises the frontal, occipital and right and left parietal bones. Occasionally, calvaria is misspelled as 'calvarium' in the medical literature. synonym: "Abnormality of calvarium" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of cranial vault" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of cranium" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the skull cap" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the skullcap" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025691 xref: UMLS:C4280561 is_a: HP:0000929 ! Abnormal skull morphology [Term] id: HP:0002684 name: Thickened calvaria def: "The presence of an abnormally thick calvaria." [HPO:curators] synonym: "Calvarial thickening" EXACT [] synonym: "Calvarium thickened" EXACT [] synonym: "Increased calvarial thickness" EXACT [] synonym: "Increased thickness of calvaria" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased thickness of calvarium" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased thickness of cranial vault" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased thickness of cranium" BROAD [ORCID:0000-0001-5889-4463] synonym: "Increased thickness of skull cap" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Thick calvaria" EXACT [] synonym: "Thick calvarium" EXACT [] synonym: "Thickened calvaria" EXACT [] synonym: "Thickened calvarium" EXACT [] synonym: "Thickened cranial vault" EXACT [] synonym: "Thickened cranium" EXACT [] synonym: "Thickened skull cap" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Thickening of the calvaria" EXACT [] xref: UMLS:C1858452 xref: UMLS:C4280560 is_a: HP:0002683 ! Abnormality of the calvaria [Term] id: HP:0002686 name: Prenatal maternal abnormality synonym: "Maternal health problem" RELATED layperson [] xref: UMLS:C4025690 is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0002687 name: Abnormality of frontal sinus def: "An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone." [ORCID:0000-0001-5889-4463] synonym: "Abnormality of sinus frontalis" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the forehead sinus" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025689 is_a: HP:0000245 ! Abnormality of the paranasal sinuses [Term] id: HP:0002688 name: Absent frontal sinuses alt_id: HP:0005452 alt_id: HP:0005475 def: "Aplasia of frontal sinus." [HPO:probinson] subset: hposlim_core synonym: "Absence of frontal sinuses" EXACT [] synonym: "Absent frontal sinus" EXACT [] synonym: "Aplasia of frontal sinus" NARROW [ORCID:0000-0001-5889-4463] synonym: "Aplasia sinus frontalis" NARROW [ORCID:0000-0001-5889-4463] synonym: "Missing frontal sinus" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1855669 xref: UMLS:C4280559 is_a: HP:0009119 ! Aplasia/Hypoplasia of the frontal sinuses [Term] id: HP:0002689 name: Absent paranasal sinuses def: "Aplasia of the paranasal sinuses." [HPO:probinson] synonym: "Absence of paranasal sinuses" EXACT [ORCID:0000-0001-5889-4463] synonym: "Aplasia of paranasal sinuses" NARROW [ORCID:0000-0001-5889-4463] synonym: "Missing paranasal sinuses" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Missing sinuses" BROAD layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1857131 xref: UMLS:C3804986 xref: UMLS:C4072844 is_a: HP:0005453 ! Absent/hypoplastic paranasal sinuses [Term] id: HP:0002690 name: Large sella turcica alt_id: HP:0005444 def: "An abnormal enlargement of the sella turcica." [HPO:probinson] subset: hposlim_core synonym: "Big sella turcica" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Enlarged sella turcica" EXACT [] synonym: "Hyperplasia of hypophysial fossa" NARROW [ORCID:0000-0001-5889-4463] synonym: "Hyperplasia of pituitary fossa" NARROW [ORCID:0000-0001-5889-4463] synonym: "Hyperplasia of sella turcica" EXACT [ORCID:0000-0001-5889-4463] synonym: "Large hypophysial fossa" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Large pituitary fossa" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Prominent sella turcica" EXACT [] xref: UMLS:C1843677 xref: UMLS:C4072845 xref: UMLS:C4072846 is_a: HP:0002679 ! Abnormality of the sella turcica [Term] id: HP:0002691 name: Platybasia def: "A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base." [HPO:probinson] comment: Platybasia is malformation of the base of the skull due to softening of skull bones or a developmental anomaly, with bulging upwards of the floor of the posterior cranial fossa, upward displacement of the upper cervical vertebrae, and bony impingement on the brainstem. It results in abnormal obtuseness of the basal angle that can be demonstrated radiographically. If platybasia is associated with basilar invagination, compression of the brainstem and upper cervical cord can result.\nBasal Angle formed by:\nline joining the nasion with the centre of the pituitary fossa\nline joining the anterior border of the foramen magnum with the centre of the pituitary fossa\nnormal: 125 degrees-143 degrees\nplatybasia: > 143 degrees\nbasilar kyphosis: < 125 degrees {xref="ORCID:0000-0001-5889-4463"} subset: hposlim_core synonym: "Flattening of the skull base" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Increased basal angle of skull base" EXACT [ORCID:0000-0001-5889-4463] synonym: "Obtuse basal angle of skull base" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:D010985 xref: SNOMEDCT_US:86587003 xref: UMLS:C0032209 is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0002692 name: Hypoplastic facial bones synonym: "Decreased size of facial bones" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased size of facial skeleton" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Flattening of facial bones" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Flattening of facial skeleton" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Hypoplasia of facial skeleton" BROAD [ORCID:0000-0001-5889-4463] synonym: "Hypotrophic facial bones" RELATED [ORCID:0000-0001-5889-4463] synonym: "Hypotrophic facial skeleton" RELATED [ORCID:0000-0001-5889-4463] synonym: "Small facial bones" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Small facial skeleton" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of facial bones" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of facial skeleton" BROAD layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1846438 xref: UMLS:C4229090 xref: UMLS:C4280268 xref: UMLS:C4280557 xref: UMLS:C4280558 is_a: HP:0011821 ! Abnormality of facial skeleton [Term] id: HP:0002693 name: Abnormality of the skull base def: "An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components." [HPO:curators] synonym: "Abnormality of cranial base" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the skull base" EXACT layperson [] xref: UMLS:C4025688 is_a: HP:0000929 ! Abnormal skull morphology [Term] id: HP:0002694 name: Sclerosis of skull base alt_id: HP:0005757 def: "Increased bone density of the skull base without significant changes in bony contour." [HPO:probinson] synonym: "Dense bone of skull base" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "HyperCalcification of skull base" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "HyperMineralization of skull base" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "HyperOssification of skull base" EXACT [ORCID:0000-0001-5889-4463] synonym: "HyperOstosis of skull base" EXACT [ORCID:0000-0001-5889-4463] synonym: "Marked sclerosis of skull base" EXACT [] synonym: "Sclerosis of cranial base" EXACT [ORCID:0000-0001-5889-4463] synonym: "Sclerosis of the skull base" EXACT [] synonym: "Sclerotic skull base" EXACT [] xref: UMLS:C1851714 xref: UMLS:C4072847 xref: UMLS:C4072848 is_a: HP:0002693 ! Abnormality of the skull base is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0002695 name: Symmetrical, oval parietal bone defects synonym: "Symmetrical, oval defects in the parietal bone" EXACT [] xref: UMLS:C1865045 is_a: HP:0002696 ! Abnormal parietal bone morphology [Term] id: HP:0002696 name: Abnormal parietal bone morphology def: "Any abnormality of the parietal bone of the skull." [HPO:curators] synonym: "Abnormality of the parietal bone" EXACT [] synonym: "Abnormality of the parietal bone of skull" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4021834 is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0002697 name: Parietal foramina def: "The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide." [HPO:probinson] comment: Enlarged parietal foramina is an inherited condition of impaired skull development. It is characterized by enlarged openings (foramina) in the two bones (parietal bones) that form the top and sides of the skull. This condition is due to problems with bone formation (ossification) within the parietal bones. The openings are symmetrical and circular in shape, with variable size ranging from a few millimeters to several centimeters wide. Parietal foramina are a normal feature of fetal development, but they usually close by the fifth month of pregnancy. synonym: "Holes in parietal bones" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Openings in parietal bones" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Persistent foramina of the parietal bones" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:11240000 xref: SNOMEDCT_US:29307005 xref: UMLS:C0222706 xref: UMLS:C4280556 is_a: HP:0002696 ! Abnormal parietal bone morphology [Term] id: HP:0002699 name: Abnormality of the foramen magnum def: "Any abnormality of the foramen magnum." [HPO:probinson] comment: The foramen magnum is the aperture through which the medulla oblongata enters and exits the skull. subset: hposlim_core xref: UMLS:C4025687 is_a: HP:0000929 ! Abnormal skull morphology [Term] id: HP:0002700 name: Large foramen magnum def: "An abnormal increase in the size of the foramen magnum." [HPO:curators] subset: hposlim_core synonym: "Big foramen magnum" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Dilation of foramen magnum" EXACT [ORCID:0000-0001-5889-4463] synonym: "enlarged foramen magnum" EXACT [] synonym: "Hyperplasia of foramen magnum" NARROW [ORCID:0000-0001-5889-4463] synonym: "Increased circumference of foramen magnum" NARROW [ORCID:0000-0001-5889-4463] synonym: "Increased diameter of foramen magnum" NARROW [ORCID:0000-0001-5889-4463] synonym: "Wide foramen magnum" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1844508 xref: UMLS:C4073291 xref: UMLS:C4280554 xref: UMLS:C4280555 is_a: HP:0002699 ! Abnormality of the foramen magnum [Term] id: HP:0002703 name: Abnormality of skull ossification def: "An abnormality of the process of ossification of the skull." [HPO:probinson] comment: The bones of the skull derive directly from mesenchyme cells by intramembranous ossification. synonym: "Abnormality of bone calcification of calvarium" RELATED [ORCID:0000-0001-5889-4463] synonym: "Abnormality of bone calcification of cranium" RELATED [ORCID:0000-0001-5889-4463] synonym: "Abnormality of bone calcification of skull" RELATED [ORCID:0000-0001-5889-4463] synonym: "Abnormality of bone formation of calvarium" RELATED [ORCID:0000-0001-5889-4463] synonym: "Abnormality of bone formation of cranium" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of bone mineralization of calvarium" RELATED [ORCID:0000-0001-5889-4463] synonym: "Abnormality of bone mineralization of cranium" RELATED [ORCID:0000-0001-5889-4463] synonym: "Abnormality of bone mineralization of skull" RELATED [ORCID:0000-0001-5889-4463] synonym: "Abnormality of ossification of calvarium" NARROW [ORCID:0000-0001-5889-4463] synonym: "Abnormality of ossification of cranium" NARROW [ORCID:0000-0001-5889-4463] synonym: "Abnormality of skull bone formation" BROAD layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025686 xref: UMLS:C4280550 xref: UMLS:C4280551 xref: UMLS:C4280552 xref: UMLS:C4280553 is_a: HP:0000929 ! Abnormal skull morphology created_by: peter creation_date: 2008-02-28T11:53:00Z [Term] id: HP:0002705 name: High, narrow palate def: "The presence of a high and narrow palate." [HPO:curators] synonym: "Gothic palate" EXACT [ORCID:0000-0001-5889-4463] synonym: "High arched palate" EXACT [] synonym: "High narrow palate" EXACT [] synonym: "High vaulted palate" EXACT [ORCID:0000-0001-5889-4463] synonym: "High, narrow palate" EXACT layperson [] synonym: "Narrow and high arched palate" EXACT [] synonym: "Narrow, high-arched palate" EXACT [] synonym: "Narrow, high-arched roof of mouth" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Narrow, highly arched palate" EXACT [] synonym: "Narrow, highly arched roof of mouth" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Palate high-arched" EXACT [] synonym: "Palate, high-arched" EXACT [] xref: UMLS:C1837404 is_a: HP:0000189 ! Narrow palate is_a: HP:0000218 ! High palate [Term] id: HP:0002707 name: Palate telangiectasia alt_id: HP:0000229 def: "The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate." [HPO:curators] synonym: "Palatal angioectasia" EXACT [ORCID:0000-0001-5889-4463] synonym: "Palatal spider veins" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Palatal telangiectasia" EXACT [ORCID:0000-0001-5889-4463] synonym: "Palate telangiectases" EXACT [] synonym: "Palate teleangiectases" EXACT [] synonym: "Spider veins of the roof of the mouth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Telangiectasia of the roof of the mouth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1857699 xref: UMLS:C4280267 is_a: HP:0000174 ! Abnormal palate morphology is_a: HP:0000228 ! Oral cavity telangiectasia [Term] id: HP:0002708 name: Prominent median palatal raphe def: "Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate." [HPO:curators] synonym: "Prominent central palatal ridge" EXACT [ORCID:0000-0001-5889-4463] synonym: "Prominent central ridge on roof of the mouth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Prominent medial palatal suture" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1845108 is_a: HP:0000174 ! Abnormal palate morphology [Term] id: HP:0002710 name: Commissural lip pit def: "A depression located at an oral commissure." [HPO:sdoelken, pmid:19125428] comment: Commissural lip pits have no relationship to other forms of lip pits which may be located on the vermilion of the upper or lower lip, usually paramedian. Rather, commissural pits are located at the corners of the oral aperture. subset: hposlim_core synonym: "Commissural labial pits" EXACT [ORCID:0000-0001-5889-4463] synonym: "Commissural pit" EXACT [] synonym: "Lip pits at corners of the mouth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Pits at the corners of the lips" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C0399605 is_a: HP:0100267 ! Lip pit [Term] id: HP:0002711 name: Exaggerated median tongue furrow def: "Increased depth of the median tongue furrow." [HPO:probinson] synonym: "Deep central lingual furrow" EXACT [ORCID:0000-0001-5889-4463] synonym: "Deep central lingual groove" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Deep central tongue furrow" EXACT [ORCID:0000-0001-5889-4463] synonym: "Deep central tongue groove" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Deep median lingual furrow" EXACT [ORCID:0000-0001-5889-4463] synonym: "Deep median lingual groove" EXACT [ORCID:0000-0001-5889-4463] synonym: "Deep median tongue furrow" EXACT [ORCID:0000-0001-5889-4463] synonym: "Deep median tongue groove" EXACT [ORCID:0000-0001-5889-4463] synonym: "Exaggerated median lingual furrow" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1845109 is_a: HP:0000221 ! Furrowed tongue [Term] id: HP:0002714 name: Downturned corners of mouth alt_id: HP:0000192 def: "A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure." [HPO:probinson, pmid:19125428] comment: This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the lower lip is enlarged. Previous terms for downturned corners of mouth included Carp mouth andFish mouth which are no longer recommended (pejorative terms). subset: hposlim_core synonym: "Downturned corners of mouth" EXACT layperson [] synonym: "Downturned corners of the mouth" EXACT layperson [] synonym: "Downturned mouth" EXACT layperson [] synonym: "Downturned oral commisures" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1866195 is_a: HP:0011338 ! Abnormality of mouth shape [Term] id: HP:0002715 name: Abnormality of the immune system alt_id: HP:0003257 alt_id: HP:0003346 alt_id: HP:0010986 def: "An abnormality of the immune system." [HPO:probinson] comment: The immune system is composed of organs and interdependent cell types that collectively protect the body from infections and from the growth of tumor cells. The organs of the immune system comprise the bone marrow, the spleen, the thymus,the lymph nodes, and the cell types comprise B cells, T cells, natural killer cells, granulocytes,dendritic cells, and macrophages. synonym: "Abnormality of the immune system" EXACT layperson [] synonym: "Immunological abnormality" EXACT layperson [] xref: UMLS:C4021753 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0002716 name: Lymphadenopathy alt_id: HP:0002735 def: "Enlargment (swelling) of a lymph node." [HPO:probinson] synonym: "Lymph node hyperplasia" EXACT [] synonym: "Swollen lymph nodes" EXACT layperson [] xref: MSH:D000072281 xref: SNOMEDCT_US:30746006 xref: UMLS:C0497156 is_a: HP:0002733 ! Abnormality of the lymph nodes [Term] id: HP:0002717 name: Adrenal overactivity comment: Cortisol is the main member of the glucocorticoid family in humans and together with aldosterone is one of the main secretions of the adrenal cortex. xref: UMLS:C4025685 is_a: HP:0011733 ! Abnormality of adrenal physiology created_by: peter creation_date: 2008-02-25T10:41:00Z [Term] id: HP:0002718 name: Recurrent bacterial infections alt_id: HP:0005355 alt_id: HP:0005361 alt_id: HP:0005367 alt_id: HP:0005391 alt_id: HP:0005393 alt_id: HP:0005410 def: "Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection." [HPO:probinson] synonym: "Bacterial infections, recurrent" EXACT layperson [] synonym: "Frequent bacterial infections" EXACT layperson [] synonym: "Frequent pyogenic infections" EXACT [] synonym: "Increased susceptibility to bacterial infections" EXACT layperson [] synonym: "Prone to bacterial infection" RELATED layperson [] synonym: "Recurrent bacterial infections" EXACT layperson [] synonym: "Recurrent major bacterial infections" EXACT layperson [] synonym: "Recurrent pyogenic infections" EXACT [] synonym: "Susceptibility to pyogenic infection" EXACT [] xref: SNOMEDCT_US:428875002 xref: UMLS:C1844383 xref: UMLS:C2748958 xref: UMLS:C4020846 is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0002719 name: Recurrent infections alt_id: HP:0002957 alt_id: HP:0002964 alt_id: HP:0005405 def: "Increased susceptibility to infections." [HPO:probinson, HPO:skoehler] synonym: "Frequent infections" EXACT layperson [] synonym: "Frequent, severe infections" EXACT layperson [] synonym: "Increased frequency of infection" EXACT layperson [] synonym: "infections, recurrent" EXACT layperson [HPO:skoehler] synonym: "Predisposition to infections" EXACT layperson [] synonym: "Recurrent infections" EXACT layperson [] synonym: "Susceptibility to infection" EXACT layperson [] xref: UMLS:C0239998 is_a: HP:0032101 ! Unusual infection [Term] id: HP:0002720 name: Decreased circulating IgA level alt_id: HP:0005358 alt_id: HP:0005399 alt_id: HP:0005431 alt_id: HP:0008350 def: "Decreased levels of immunoglobulin A (IgA)." [HPO:probinson] synonym: "Decreased IgA" EXACT [] synonym: "Decreased immunoglobulin A" EXACT [] synonym: "Gamma-A globulin deficiency" EXACT [] synonym: "IgA deficiency" EXACT [] synonym: "Low levels of immunoglobulin A" EXACT [] synonym: "Reduced IgA levels" EXACT [] xref: MSH:D017098 xref: SNOMEDCT_US:29260007 xref: UMLS:C0162538 is_a: HP:0004313 ! Decreased antibody level in blood is_a: HP:0410240 ! Abnormal IgA level [Term] id: HP:0002721 name: Immunodeficiency alt_id: HP:0005362 alt_id: HP:0005371 def: "Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance." [PMID:20042227] synonym: "Decreased immune function" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Immune deficiency" EXACT [] xref: MSH:D007153 xref: SNOMEDCT_US:234532001 xref: UMLS:C0021051 is_a: HP:0010978 ! Abnormality of immune system physiology [Term] id: HP:0002722 name: Recurrent abscess formation def: "An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses." [HPO:probinson] xref: UMLS:C4025684 is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0002723 name: Absence of bactericidal oxidative respiratory burst in phagocytes def: "An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity." [GO:0045728] xref: UMLS:C1844385 is_a: HP:0010977 ! Abnormal phagocytosis [Term] id: HP:0002724 name: Recurrent Aspergillus infections def: "An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections." [HPO:probinson] synonym: "Aspergillus infections, recurrent" EXACT [HPO:skoehler] xref: UMLS:C4021752 is_a: HP:0002841 ! Recurrent fungal infections [Term] id: HP:0002725 name: Systemic lupus erythematosus def: "A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes." [HPO:probinson] comment: This is a bundled term that describes a disease rather than a phenotypic feature, but is left for convenience for annotations of lupus conceived of as a feature of another disease. synonym: "SLE" EXACT HP:0045077 [] xref: MSH:D008180 xref: SNOMEDCT_US:55464009 xref: UMLS:C0024141 is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0002726 name: Recurrent Staphylococcus aureus infections def: "Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection." [HPO:probinson] synonym: "Staphylococcus aureus infections, recurrent" EXACT [HPO:skoehler] xref: UMLS:C2673462 is_a: HP:0007499 ! Recurrent staphylococcal infections [Term] id: HP:0002728 name: Chronic mucocutaneous candidiasis alt_id: HP:0005392 def: "Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails." [HPO:probinson, pmid:20859203] comment: The most commonly involved Candida species is Candida albicans. Chronic mucocutaneous candidiasis (CMC) is usually confined to the cutaneous surface without systemic dissemination. CMC does not represent a specific disease, but rather a phenotypic feature of several immunologic, endocrinologic, and autoimmune disorders. synonym: "Chronic candidiasis of mucosa, skin and nails" EXACT [] synonym: "Mucocutaneous candidiasis" EXACT [] xref: MSH:D002178 xref: SNOMEDCT_US:234568006 xref: UMLS:C0006845 is_a: HP:0011370 ! Recurrent cutaneous fungal infections [Term] id: HP:0002729 name: Follicular hyperplasia def: "Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers." [HPO:probinson, PMID:23281438] comment: Lymphadenopathy can be defined as enlargement of lymph nodes. It is just a sign accompanying a great variety of entities with multiple etiologies: acute vs. chronic, benign vs. malignant. One of the most commonly seen histological pictures is lymphadenopathy owing to hyperplasia of follicular (germinal centers) but this one is by far not the only one (See Gaddey HL et al. Unexplained Lymphadenopathy: Evaluation and Differential Diagnosis. Am Fam Physician. 2016 1;94:896-903 and Weiss LM. et al. Benign lymphadenopathies. Mod Pathol. 2013;26 Suppl 1:S88-96). xref: UMLS:C4014733 is_a: HP:0002716 ! Lymphadenopathy [Term] id: HP:0002730 name: Chronic noninfectious lymphadenopathy def: "A chronic form of lymphadenopathy that is not related to infection." [HPO:probinson] xref: UMLS:C1858970 is_a: HP:0002716 ! Lymphadenopathy [Term] id: HP:0002731 name: Decreased lymphocyte apoptosis def: "A reduction in the rate of apoptosis in lymphocytes." [HPO:probinson] comment: Apoptosis, a form of programmed cell death, is an important mechanism that prevents uncontrolled proliferation of activated lymphocytes and regulates lymphocyte homeostasis. synonym: "Defective lymphocyte apoptosis" EXACT [] xref: UMLS:C1858969 is_a: HP:0030886 ! Abnormal lymphocyte apoptosis [Term] id: HP:0002732 name: Lymph node hypoplasia def: "Underdevelopment of the lymph nodes." [HPO:probinson] synonym: "Small lymph nodes" RELATED layperson [] xref: UMLS:C1865377 xref: UMLS:C4025683 is_a: HP:0002733 ! Abnormality of the lymph nodes [Term] id: HP:0002733 name: Abnormality of the lymph nodes alt_id: HP:0008149 def: "A lymph node abnormality." [HPO:probinson] synonym: "Abnormal lymph node histology" EXACT layperson [] synonym: "Abnormality of the lymph nodes" EXACT layperson [] xref: UMLS:C0149727 is_a: HP:0100763 ! Abnormality of the lymphatic system [Term] id: HP:0002737 name: Thick skull base synonym: "Increased thickness of bone of skull base" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased thickness of skull base" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Thick skull base" EXACT layperson [] xref: UMLS:C1839507 is_a: HP:0002693 ! Abnormality of the skull base [Term] id: HP:0002738 name: Hypoplastic frontal sinuses def: "Underdevelopment of frontal sinus." [HPO:probinson] synonym: "Decreased pneumatization of frontal sinus" NARROW [ORCID:0000-0001-5889-4463] synonym: "Decreased volume of frontal sinuses" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypotrophic frontal sinus" RELATED [ORCID:0000-0001-5889-4463] synonym: "Small frontal sinuses" EXACT [ORCID:0000-0001-5889-4463] synonym: "Underdeveloped frontal sinuses" EXACT [] xref: UMLS:C1859682 xref: UMLS:C4280548 xref: UMLS:C4280549 is_a: HP:0009119 ! Aplasia/Hypoplasia of the frontal sinuses [Term] id: HP:0002740 name: Recurrent E. coli infections def: "Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent." [HPO:probinson] synonym: "E coli infections" EXACT [] synonym: "E coli infections, recurrent" EXACT [HPO:skoehler] xref: MSH:D004927 xref: SNOMEDCT_US:71057007 xref: UMLS:C0014836 is_a: HP:0005420 ! Recurrent gram-negative bacterial infections [Term] id: HP:0002741 name: Recurrent Serratia marcescens infections def: "Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection." [HPO:probinson] xref: UMLS:C4025682 is_a: HP:0005420 ! Recurrent gram-negative bacterial infections [Term] id: HP:0002742 name: Recurrent Klebsiella infections def: "Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection." [HPO:probinson] synonym: "Klebsiella infections, recurrent" EXACT [HPO:skoehler] xref: UMLS:C4021751 is_a: HP:0005420 ! Recurrent gram-negative bacterial infections [Term] id: HP:0002743 name: Recurrent enteroviral infections def: "Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection." [HPO:probinson] xref: UMLS:C4025681 is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0002744 name: Bilateral cleft lip and palate def: "Cleft lip and cleft palate affecting both sides of the face." [HPO:probinson] synonym: "Bilateral cleft lip and cleft palate" EXACT [] synonym: "Right and left cleft lip and palate" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:1085331000119107 xref: UMLS:C1398522 is_a: HP:0100336 ! Bilateral cleft lip is_a: HP:0100337 ! Bilateral cleft palate [Term] id: HP:0002745 name: Oral leukoplakia def: "A thickened white patch on the oral mucosa that cannot be rubbed off." [HPO:probinson, pmid:17944749] comment: The definition of oral leukoplakia states that the lesion be characterized clinically or histologically as any other condition, and is not associated with any physical or chemical causative agent except tobacco. Leukoplakia is a precancerous lesion, i.e. a morphologically altered tissue in which cancer is more likely to occur than in its apparently normal counterpart. subset: hposlim_core synonym: "leukokeratosis" EXACT [HPO:SKOEHLER] synonym: "Oral idiopathic keratosis" EXACT [ORCID:0000-0001-5889-4463] synonym: "Oral idiopathic leukoplakia" EXACT [ORCID:0000-0001-5889-4463] synonym: "Oral idiopathic white patch" EXACT [ORCID:0000-0001-5889-4463] synonym: "Oral leucoplakia" EXACT [ORCID:0000-0001-5889-4463] synonym: "Oral leukokeratosis" EXACT [ORCID:0000-0001-5889-4463] synonym: "Oral leukoplasia" EXACT [ORCID:0000-0001-5889-4463] synonym: "Oral white patch" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Oral white plaque" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:D007971 xref: MSH:D007972 xref: SNOMEDCT_US:414603003 xref: SNOMEDCT_US:9187004 xref: UMLS:C0023532 xref: UMLS:C1704317 is_a: HP:0025125 ! White lesion of the oral mucosa [Term] id: HP:0002747 name: Respiratory insufficiency due to muscle weakness alt_id: HP:0004882 alt_id: HP:0004888 synonym: "Decreased lung function due to weak breathing muscles" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Decreased respiratory function due to muscle weakness" EXACT [] synonym: "Respiratory distress due to muscle weakness" EXACT [] synonym: "Respiratory failure due to muscle weakness" EXACT [] synonym: "Respiratory muscle weakness" EXACT [] xref: UMLS:C3806467 is_a: HP:0002093 ! Respiratory insufficiency is_a: HP:0004347 ! Weakness of muscles of respiration [Term] id: HP:0002748 name: Rickets def: "Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets." [GARD:0005700] synonym: "Weak and soft bones" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:D012279 xref: SNOMEDCT_US:41345002 xref: UMLS:C0035579 is_a: HP:0004349 ! Reduced bone mineral density [Term] id: HP:0002749 name: Osteomalacia def: "Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets." [HPO:curators] synonym: "Softening of the bones" EXACT layperson [] xref: SNOMEDCT_US:4598005 xref: UMLS:C0029442 is_a: HP:0004349 ! Reduced bone mineral density [Term] id: HP:0002750 name: Delayed skeletal maturation alt_id: HP:0000928 alt_id: HP:0002806 def: "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] synonym: "Delayed bone age" EXACT [] synonym: "Delayed bone age before puberty" EXACT [] synonym: "Delayed bone maturation" EXACT layperson [] synonym: "Delayed skeletal development" EXACT layperson [] synonym: "Retarded bone age" EXACT [] synonym: "Retarded ossification" RELATED [] synonym: "Skeletal maturation retardation" EXACT [] xref: SNOMEDCT_US:123983008 xref: UMLS:C0541764 is_a: HP:0000927 ! Abnormality of skeletal maturation [Term] id: HP:0002751 name: Kyphoscoliosis alt_id: HP:0003412 alt_id: HP:0003424 alt_id: HP:0004593 alt_id: HP:0005728 def: "An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane." [HPO:probinson] xref: SNOMEDCT_US:405773007 xref: UMLS:C0575158 is_a: HP:0002650 ! Scoliosis is_a: HP:0002808 ! Kyphosis [Term] id: HP:0002752 name: Sparse bone trabeculae xref: UMLS:C1833324 is_a: HP:0100671 ! Abnormal trabecular bone morphology [Term] id: HP:0002753 name: Thin bony cortex alt_id: HP:0003104 def: "Abnormal thinning of the cortical region of bones." [HPO:curators] synonym: "Thin cortices" EXACT [] xref: UMLS:C1833325 is_a: HP:0003103 ! Abnormal cortical bone morphology [Term] id: HP:0002754 name: Osteomyelitis alt_id: HP:0002755 alt_id: HP:0005901 def: "Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism." [HPO:probinson, PMID:15276398] comment: Osteomyelitis can be acute or chronic and can be caused by a variety of microbial agents. synonym: "Bone infection" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D010019 xref: SNOMEDCT_US:111253001 xref: SNOMEDCT_US:60168000 xref: UMLS:C0029443 xref: UMLS:C2242472 is_a: HP:0011843 ! Abnormality of skeletal physiology is_a: HP:0012649 ! Increased inflammatory response [Term] id: HP:0002755 name: obsolete Osteomyelitis due to immunodeficiency is_obsolete: true replaced_by: HP:0002754 [Term] id: HP:0002756 name: Pathologic fracture alt_id: HP:0005633 def: "A pathologic fracture occurs when a bone breaks in an area that is weakened secondary to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone." [HPO:curators] synonym: "Pathologic fractures" RELATED [HPO:skoehler] synonym: "Spontaneous fracture" EXACT layperson [] synonym: "Spontaneous fractures" RELATED [HPO:skoehler] xref: MSH:D005598 xref: SNOMEDCT_US:22640007 xref: SNOMEDCT_US:268029009 xref: UMLS:C0016663 is_a: HP:0002659 ! Increased susceptibility to fractures [Term] id: HP:0002757 name: Recurrent fractures alt_id: HP:0002660 alt_id: HP:0002767 alt_id: HP:0002809 def: "The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators] comment: This term will be made obsolete. The annotations need to be checked. synonym: "Frequent fractures" EXACT [] synonym: "Increased fracture rate" EXACT layperson [] synonym: "Increased fractures" EXACT layperson [] synonym: "Multiple fractures" EXACT layperson [] synonym: "Multiple spontaneous fractures" EXACT layperson [] synonym: "Recurrent fractures" EXACT layperson [] synonym: "Varying degree of multiple fractures" EXACT layperson [] xref: MSH:D000069076 xref: SNOMEDCT_US:134291007 xref: SNOMEDCT_US:5468008 xref: UMLS:C0016655 xref: UMLS:C1833752 xref: UMLS:C3805574 xref: UMLS:C3806283 is_a: HP:0002659 ! Increased susceptibility to fractures [Term] id: HP:0002758 name: Osteoarthritis alt_id: HP:0001379 alt_id: HP:0002824 alt_id: HP:0005762 def: "Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity." [] synonym: "Degenerative joint disease" EXACT layperson [] xref: MSH:D010003 xref: SNOMEDCT_US:225655006 xref: SNOMEDCT_US:396275006 xref: UMLS:C0029408 is_a: HP:0001369 ! Arthritis [Term] id: HP:0002761 name: Generalized joint laxity def: "Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body." [HPO:curators] synonym: "Hypermobility of all joints" EXACT layperson [] synonym: "Increased joint mobility" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Joint laxity, generalized" RELATED [HPO:skoehler] xref: UMLS:C1836308 is_a: HP:0001382 ! Joint hypermobility [Term] id: HP:0002762 name: Multiple exostoses def: "Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage." [HPO:probinson] xref: MSH:D005097 xref: SNOMEDCT_US:254044004 xref: UMLS:C0015306 is_a: HP:0100777 ! Exostoses [Term] id: HP:0002763 name: Abnormal cartilage morphology def: "Any morphological abnormality of cartilage." [HPO:probinson] synonym: "Abnormal shape of cartilage" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025680 is_a: HP:0011842 ! Abnormality of skeletal morphology [Term] id: HP:0002764 name: Stippled chondral calcification xref: UMLS:C4025679 is_a: HP:0002832 ! Calcific stippling is_a: HP:0100593 ! Calcification of cartilage [Term] id: HP:0002766 name: Relatively short spine synonym: "Relatively short spine" EXACT layperson [] xref: UMLS:C3277114 is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column [Term] id: HP:0002773 name: obsolete Small vertebral bodies is_obsolete: true replaced_by: HP:0008479 [Term] id: HP:0002777 name: Tracheal stenosis synonym: "Narrowing of windpipe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D014135 xref: SNOMEDCT_US:11296007 xref: UMLS:C0040583 is_a: HP:0002778 ! Abnormal trachea morphology [Term] id: HP:0002778 name: Abnormal trachea morphology def: "A structural anomaly of the trachea." [HPO:probinson] synonym: "Abnormality of the trachea" EXACT [] synonym: "Tracheal disease" RELATED [] xref: MSH:D014133 xref: SNOMEDCT_US:47125007 xref: UMLS:C0040580 xref: UMLS:C4025678 is_a: HP:0005607 ! Abnormal tracheobronchial morphology [Term] id: HP:0002779 name: Tracheomalacia synonym: "Floppy windpipe" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:D055090 xref: SNOMEDCT_US:95434006 xref: UMLS:C0948187 is_a: HP:0002778 ! Abnormal trachea morphology [Term] id: HP:0002780 name: Bronchomalacia xref: MSH:D055091 xref: SNOMEDCT_US:54203008 xref: UMLS:C0264353 is_a: HP:0025426 ! Abnormal bronchus morphology [Term] id: HP:0002781 name: Upper airway obstruction def: "Increased resistance to the passage of air in the upper airway." [HPO:probinson] subset: hposlim_core synonym: "Upper airway obstruction" EXACT layperson [] xref: UMLS:C0740852 is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002783 name: Recurrent lower respiratory tract infections alt_id: HP:0004884 alt_id: HP:0005955 def: "An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections." [HPO:probinson] synonym: "Chronic lung infections" EXACT [] synonym: "Lower respiratory tract infections" EXACT [] synonym: "Recurrent chest infections" EXACT layperson [] xref: SNOMEDCT_US:448739000 xref: SNOMEDCT_US:50417007 xref: UMLS:C0149725 xref: UMLS:C0585953 xref: UMLS:C3163798 is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0002786 name: Tracheobronchomalacia def: "Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways." [HPO:probinson] xref: MSH:D055089 xref: SNOMEDCT_US:233788001 xref: UMLS:C0340231 is_a: HP:0002779 ! Tracheomalacia is_a: HP:0002780 ! Bronchomalacia [Term] id: HP:0002787 name: Tracheal calcification def: "Calcification (abnormal deposits of calcium) in the tracheal tissues." [HPO:probinson, pmid:18663210] synonym: "Calcification of the trachea" EXACT [] synonym: "Tracheal calcifications" EXACT [] synonym: "Tracheal ectopic calcification" EXACT [] xref: SNOMEDCT_US:81089005 xref: UMLS:C0264324 is_a: HP:0002778 ! Abnormal trachea morphology is_a: HP:0010766 ! Ectopic calcification [Term] id: HP:0002788 name: Recurrent upper respiratory tract infections alt_id: HP:0001740 alt_id: HP:0002784 def: "An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis)." [HPO:probinson] synonym: "Frequent upper respiratory infections" EXACT [] synonym: "Frequent upper respiratory tract infections" EXACT [] synonym: "Recurrent colds" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Recurrent upper respiratory and lower respiratory infections" EXACT [] synonym: "Recurrent upper respiratory infection" EXACT [] synonym: "Recurrent upper respiratory infections" EXACT [] synonym: "Recurrent URI" EXACT HP:0045077 [] synonym: "Upper respiratory tract infections" EXACT [] synonym: "Upper respiratory tract infections, recurrent" EXACT [HPO:skoehler] xref: SNOMEDCT_US:195708003 xref: UMLS:C0581381 is_a: HP:0001739 ! Abnormality of the nasopharynx is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0002789 name: Tachypnea alt_id: HP:0002874 alt_id: HP:0004346 def: "Very rapid breathing." [HPO:probinson] comment: In adults, a beathing rate of between 12-20 breaths per minute is normal and tachypnea is present with a ventilatory rate greater than 20 breaths per minute. synonym: "Increased respiratory rate or depth of breathing" EXACT layperson [] synonym: "Polypnea" EXACT [] xref: MSH:D059246 xref: SNOMEDCT_US:271823003 xref: UMLS:C0231835 is_a: HP:0002793 ! Abnormal pattern of respiration [Term] id: HP:0002790 name: Neonatal breathing dysregulation synonym: "Impaired breathing in newborn" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3806216 is_a: HP:0005957 ! Breathing dysregulation [Term] id: HP:0002791 name: Hypoventilation alt_id: HP:0004892 def: "A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide)." [HPO:probinson] comment: Not to be confused with Hypopnea, where the partial pressure of carbon dioxide can remain normal. synonym: "Alveolar hypoventilation" EXACT [] synonym: "Respiratory depression" RELATED [] synonym: "Slow breathing" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Under breathing" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D007040 xref: MSH:D012131 xref: SNOMEDCT_US:15993004 xref: SNOMEDCT_US:31515003 xref: SNOMEDCT_US:80954004 xref: UMLS:C0235063 xref: UMLS:C3203358 is_a: HP:0002793 ! Abnormal pattern of respiration [Term] id: HP:0002792 name: Reduced vital capacity def: "An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung." [HPO:probinson] synonym: "Decreased vital capacity" EXACT [] xref: SNOMEDCT_US:274715008 xref: SNOMEDCT_US:607007 xref: UMLS:C0476408 xref: UMLS:C0520831 is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002793 name: Abnormal pattern of respiration def: "An anomaly of the rhythm or depth of breathing." [HPO:probinson] synonym: "Abnormal pattern of respiration" EXACT layperson [] synonym: "Abnormal respiratory patterns" EXACT layperson [] synonym: "Unusual breathing patterns" EXACT layperson [] xref: UMLS:C1837388 is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002795 name: Functional respiratory abnormality comment: This category describes not-primarily structural lesions. synonym: "Abnormal respiration" EXACT [ORCID:0000-0001-5208-3432] synonym: "Functional respiratory abnormality" EXACT layperson [] synonym: "Respiratory problem" RELATED layperson [] xref: Fyler:4200 xref: UMLS:C4025677 is_a: HP:0002086 ! Abnormality of the respiratory system [Term] id: HP:0002797 name: Osteolysis alt_id: HP:0010737 def: "Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium." [HPO:probinson] comment: Osteolysis may be a feature of neoplastic, infectious, metabolis, vascular, and joint disorders and is also a component of many hereditary diseases. Osteolysis may be highly localized or more diffuse. This term is meant to group the more specific osteolysis terms. synonym: "Breakdown of bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Increased bone resorption" EXACT [HPO:sdoelken] synonym: "Osteolytic defects of bones" EXACT [] xref: MSH:D010014 xref: SNOMEDCT_US:203522001 xref: SNOMEDCT_US:30425001 xref: UMLS:C0221204 is_a: HP:0003330 ! Abnormal bone structure [Term] id: HP:0002803 name: Congenital contracture def: "One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth." [HPO:probinson] synonym: "congenital contractures" EXACT [HPO:skoehler] synonym: "Congenital joint contractures" EXACT [] xref: UMLS:C0332878 is_a: HP:0001371 ! Flexion contracture [Term] id: HP:0002804 name: Arthrogryposis multiplex congenita alt_id: HP:0001389 alt_id: HP:0001390 alt_id: HP:0002759 alt_id: HP:0005188 alt_id: HP:0005663 alt_id: HP:0005809 alt_id: HP:0005859 def: "Multiple congenital contractures in different body areas." [HPO:probinson, PMID:23050160] comment: Arthrogryposis multiplex congenita (AMC) consists of several conditions of different etiology and mixed clinical features, including multiple congenital contractures in multiple body areas. Here, we use the term to refer solely to the multiple congenital contractures. It is related to fetal akinesia owing to fetal neurogenic, muscle, or connective tissue disorders or occasionally to maternal conditions. AMC can be associated with polyhydramnios, pulmonary hypoplasia, micrognathia, ocular hypertelorism, and short umbilical cord. AMC is a feature of a heterogeneous group of disorders, some of which have the phrase 'arthrogryposis multiplex congenita' as a part of their name (for instance, Arthrogryposis multiplex congenita, distal type 1 or AMCD1). This term refers to the finding of multiple joint contractures found throughout the body at birth rather than to the disease entities of which this is a clinical feature. synonym: "Arthrogryposis" EXACT [] synonym: "Arthrogryposis multiplex" EXACT [] synonym: "Arthrogryposis, congenital" EXACT [] synonym: "Multiple congenital contractures" EXACT [] xref: MSH:D001176 xref: SNOMEDCT_US:111246005 xref: SNOMEDCT_US:77016009 xref: UMLS:C0003886 is_a: HP:0002803 ! Congenital contracture [Term] id: HP:0002805 name: Accelerated bone age after puberty synonym: "Accelerated bone age after puberty" EXACT layperson [] xref: UMLS:C1860825 is_a: HP:0005616 ! Accelerated skeletal maturation [Term] id: HP:0002808 name: Kyphosis alt_id: HP:0002769 alt_id: HP:0003314 def: "Exaggerated anterior convexity of the thoracic vertebral column." [HPO:probinson] subset: hposlim_core synonym: "Gibbus deformity" EXACT [] synonym: "Hunched back" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Hyperkyphosis" EXACT [] synonym: "Round back" EXACT layperson [] xref: MSH:D007738 xref: SNOMEDCT_US:414564002 xref: UMLS:C0022821 xref: UMLS:C1845112 is_a: HP:0010674 ! Abnormality of the curvature of the vertebral column [Term] id: HP:0002810 name: Dumbbell-shaped metaphyses alt_id: HP:0005079 synonym: "Dumbbell shaped metaphyses" EXACT [] synonym: "Dumbbell shaped metaphysis" EXACT [ORCID:0000-0001-6908-9849] synonym: "Dumbbell shaped wide portion of long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3277123 is_a: HP:0000944 ! Abnormality of the metaphysis [Term] id: HP:0002812 name: Coxa vara def: "Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees." [HPO:probinson] comment: The Latin word 'coxa' refers to the hip, and varus is a term for the inward angulation of the distal segment of a bone or joint. The normal range of the angle between the ball and the shaft of the femur is 120 to 135 degrees. Coxa vara can be congenital, developmental, or acquired. xref: MSH:D060905 xref: SNOMEDCT_US:74820003 xref: UMLS:C0239138 is_a: HP:0003367 ! Abnormality of the femoral neck [Term] id: HP:0002813 name: Abnormality of limb bone morphology def: "Any abnormality of bones of the arms or legs." [HPO:probinson] synonym: "Abnormal shape of limb bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Arm and/or leg bone differences" EXACT layperson [] synonym: "Limb abnormality" EXACT layperson [] xref: UMLS:C4082761 is_a: HP:0011844 ! Abnormal appendicular skeleton morphology is_a: HP:0040068 ! Abnormality of limb bone [Term] id: HP:0002814 name: Abnormality of the lower limb def: "An abnormality of the leg." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the leg" EXACT [] synonym: "Abnormality of the lower limb" EXACT layperson [] synonym: "Lower limb deformities" EXACT layperson [] xref: SNOMEDCT_US:449715001 xref: UMLS:C1096086 is_a: HP:0040064 ! Abnormality of limbs [Term] id: HP:0002815 name: Abnormality of the knee def: "An abnormality of the knee joint or surrounding structures." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the knee" EXACT layperson [] xref: UMLS:C4025676 is_a: HP:0100491 ! Abnormality of lower limb joint [Term] id: HP:0002816 name: Genu recurvatum def: "An abnormally increased extension of the knee joint, so that the knee can bend backwards." [HPO:probinson, pmid:9580896] comment: Individuals with genu recurvatum may experience knee pain, display an extension gait pattern, and have poor proprioceptive control of terminal knee extension. subset: hposlim_core synonym: "Back knee" EXACT layperson [https://en.wikipedia.org/wiki/genu_recurvatum, ORCID:0000-0001-6908-9849] synonym: "Genu recurvata" EXACT [] synonym: "Knee hyperextension" EXACT layperson [https://en.wikipedia.org/wiki/genu_recurvatum, ORCID:0000-0001-6908-9849] xref: MEDDRA:10018194 "Genu recurvatum" xref: UMLS:C0546964 is_a: HP:0010500 ! Hyperextensibility of the knee [Term] id: HP:0002817 name: Abnormality of the upper limb alt_id: HP:0003838 def: "An abnormality of the arm." [HPO:probinson] synonym: "Abnormality of the arm" EXACT [] synonym: "Abnormality of the upper limb" EXACT layperson [] xref: UMLS:C4020900 is_a: HP:0040064 ! Abnormality of limbs [Term] id: HP:0002818 name: Abnormality of the radius def: "An abnormality of the radius." [HPO:probinson] subset: hposlim_core xref: UMLS:C4025675 is_a: HP:0040072 ! Abnormality of forearm bone [Term] id: HP:0002821 name: Neuropathic arthropathy synonym: "Charcot arthropathy" EXACT [ORCID:0000-0001-6908-9849] synonym: "Charcot joint" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:D001177 xref: SNOMEDCT_US:359554008 xref: SNOMEDCT_US:67536000 xref: UMLS:C0003892 is_a: HP:0003040 ! Arthropathy [Term] id: HP:0002822 name: Hyperplasia of the femoral trochanters synonym: "Hyperplastic femoral trochanters" EXACT [] xref: UMLS:C3277120 is_a: HP:0003366 ! Abnormality of the femoral neck or head region [Term] id: HP:0002823 name: Abnormality of femur morphology alt_id: HP:0001439 def: "Any anomaly of the structure of the femur." [HPO:probinson] comment: The femur (plural: femora) is the thigh bone. synonym: "Abnormality of the femora" EXACT [] synonym: "Abnormality of the thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021750 is_a: HP:0040066 ! Abnormal morphology of bones of the lower limbs [Term] id: HP:0002825 name: Caudal appendage def: "The presence of a tail-like skin appendage located adjacent to the sacrum." [HPO:probinson] subset: hposlim_core synonym: "Coccygeal tail" EXACT [] synonym: "Human tail" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C3277117 is_a: HP:0008519 ! Abnormality of the coccyx [Term] id: HP:0002826 name: Halberd-shaped pelvis def: "An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle)." [HPO:probinson, PMID:19232556] synonym: "Halberd-shaped pelvis bone" EXACT [] xref: UMLS:C3277119 is_a: HP:0040163 ! Abnormal pelvis bone morphology [Term] id: HP:0002827 name: Hip dislocation alt_id: HP:0001375 def: "Displacement of the femur from its normal location in the hip joint." [HPO:probinson] synonym: "Dislocated hips" EXACT layperson [] synonym: "Dislocation of hip" EXACT layperson [] synonym: "Hip dislocation" EXACT layperson [] xref: MSH:D006617 xref: SNOMEDCT_US:157265008 xref: UMLS:C0019554 is_a: HP:0001384 ! Abnormality of the hip joint is_a: HP:0030311 ! Lower extremity joint dislocation [Term] id: HP:0002828 name: Multiple joint contractures xref: SNOMEDCT_US:19393004 xref: SNOMEDCT_US:202264009 xref: UMLS:C0158118 is_a: HP:0001371 ! Flexion contracture [Term] id: HP:0002829 name: Arthralgia def: "Joint pain." [HPO:probinson] synonym: "Arthralgias" EXACT [] synonym: "Arthritic pain" RELATED [] synonym: "Joint pain" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Joint pains" RELATED layperson [HPO:skoehler] xref: MSH:D018771 xref: SNOMEDCT_US:57676002 xref: UMLS:C0003862 is_a: HP:0012531 ! Pain [Term] id: HP:0002831 name: Long coccyx synonym: "Long tailbone" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C3277116 is_a: HP:0008519 ! Abnormality of the coccyx [Term] id: HP:0002832 name: Calcific stippling alt_id: HP:0005738 def: "An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs)." [HPO:curators] synonym: "Discrete calcific stippling" EXACT [] xref: UMLS:C1849993 is_a: HP:0010766 ! Ectopic calcification [Term] id: HP:0002833 name: Cystic angiomatosis of bone def: "Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping." [HPO:probinson, pmid:11930062] comment: The term Cystic angiomatosis is used to describe a disease entity that includes cystic angiomatosis of bone and of visceral organs. synonym: "Lytic cystic lesions in appendicular bones" EXACT [] xref: UMLS:C4021749 is_a: HP:0012062 ! Bone cyst [Term] id: HP:0002834 name: Flared femoral metaphysis synonym: "Flared metaphysis of thigh bone" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4025674 is_a: HP:0006489 ! Abnormality of the femoral metaphysis is_a: HP:0030307 ! Flared lower limb metaphysis [Term] id: HP:0002835 name: Aspiration def: "Inspiration of a foreign object into the airway." [HPO:probinson] synonym: "Pulmonary aspiration" RELATED [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:413585005 xref: SNOMEDCT_US:68052005 xref: UMLS:C0700198 xref: UMLS:C2712334 is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002836 name: Bladder exstrophy def: "Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall." [HPO:probinson, pmid:23650202] comment: Exstrophy of the bladder can be associated with epispadias and bifid penis or in females with bifid clitoris, a bifid uterus, and a septated vagina, each of which should be coded separately. synonym: "Ectopia vesicae" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:D001746 xref: SNOMEDCT_US:61758007 xref: UMLS:C0005689 is_a: HP:0025487 ! Abnormality of bladder morphology is_a: HP:0100548 ! Exstrophy [Term] id: HP:0002837 name: Recurrent bronchitis alt_id: HP:0002785 def: "An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis." [HPO:probinson, ISBN:0199747725, PMID:28261574] synonym: "Bronchitis, recurrent" EXACT [HPO:skoehler] xref: UMLS:C0741796 is_a: HP:0002788 ! Recurrent upper respiratory tract infections is_a: HP:0012387 ! Bronchitis is_a: HP:0025426 ! Abnormal bronchus morphology [Term] id: HP:0002839 name: Urinary bladder sphincter dysfunction alt_id: HP:0000018 def: "Abnormal function of a sphincter of the urinary bladder." [HPO:probinson] synonym: "Sphincter disturbance" EXACT [] synonym: "Sphincter disturbances" EXACT [] xref: UMLS:C1843663 is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0002840 name: Lymphadenitis def: "Inflammation of a lymph node." [HPO:probinson] synonym: "Inflammation of the lymph nodes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D008199 xref: SNOMEDCT_US:19471005 xref: UMLS:C0024205 is_a: HP:0002733 ! Abnormality of the lymph nodes is_a: HP:0012649 ! Increased inflammatory response [Term] id: HP:0002841 name: Recurrent fungal infections alt_id: HP:0005350 alt_id: HP:0005380 alt_id: HP:0005388 def: "Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection." [HPO:probinson] synonym: "Recurrent fungal infections" EXACT layperson [] xref: UMLS:C1844384 is_a: HP:0002719 ! Recurrent infections is_a: HP:0020100 ! Unusual fungal infection [Term] id: HP:0002842 name: Recurrent Burkholderia cepacia infections def: "Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent." [HPO:probinson] xref: UMLS:C4025673 is_a: HP:0005420 ! Recurrent gram-negative bacterial infections [Term] id: HP:0002843 name: Abnormal T cell morphology alt_id: HP:0002734 alt_id: HP:0030332 def: "An abnormality of T cells." [HPO:curators] comment: T-cells are lymphocytes whose principle function in the adaptive immune system is to mediate cell-mediated immunity. synonym: "Abnormal T cells" EXACT [HPO:skoehler] synonym: "Abnormality of T cells" EXACT [] synonym: "Cellular immune defect" EXACT [] synonym: "Defective cellular immunity" EXACT [] xref: UMLS:C1855752 is_a: HP:0004332 ! Abnormal lymphocyte morphology [Term] id: HP:0002845 name: obsolete Increased proportion of peripheral CD3+ T cells is_obsolete: true replaced_by: HP:0002851 [Term] id: HP:0002846 name: Abnormal B cell morphology def: "A structural abnormality of B cells." [HPO:probinson, PMID:18725575] comment: B cells are bursal or bone marrow-derived lymphocytes whose principle function in the adaptive immune system is to make antibodies against antigens. A simple definition of B lymphocytes is a population of cells that express clonally diverse cell surface immunoglobulin (Ig) receptors recognizing specific antigenic epitopes. Over 10 B cell-specific cell surface molecules have been identified by monoclonal antibodies, including CD19, which is considered a pan-B cell and possibly follicular dendritic cell marker, and CD20, which is considered to be a marker for mature B cells. synonym: "Abnormal B cells" EXACT [HPO:skoehler] synonym: "Abnormality of B cells" EXACT [] xref: UMLS:C4021748 is_a: HP:0004332 ! Abnormal lymphocyte morphology [Term] id: HP:0002847 name: Impaired memory B cell generation def: "Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge." [HPO:probinson] xref: UMLS:C4025672 is_a: HP:0005372 ! Abnormality of B cell physiology [Term] id: HP:0002848 name: Specific anti-polysaccharide antibody deficiency def: "The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides." [HPO:probinson] comment: Specific anti-polysaccharide antibody deficiency is associated with an increased risk of infection with Streptococcus pneumoniae, Haemophilus influenzae type b, and Staphylococcus aureus. synonym: "Depressed antibody response to polysaccharide antigens" EXACT [] xref: UMLS:C4021747 is_a: HP:0012475 ! Decreased circulating level of specific antibody [Term] id: HP:0002849 name: Absence of lymph node germinal center def: "Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses." [HPO:probinson] synonym: "Lymph nodes lack germinal center" EXACT [] synonym: "Lymphoid germinal center defect" EXACT [] xref: UMLS:C1847383 is_a: HP:0002733 ! Abnormality of the lymph nodes [Term] id: HP:0002850 name: Decreased circulating total IgM alt_id: HP:0003147 alt_id: HP:0005385 def: "An abnormally decreased level of immunoglobulin M (IgM) in blood." [HPO:probinson] synonym: "Decreased IgM" EXACT [] synonym: "Decreased IgM level" EXACT [] synonym: "IgM deficiency" EXACT [] synonym: "Reduced IgM levels" EXACT [] xref: UMLS:C0239989 is_a: HP:0004313 ! Decreased antibody level in blood is_a: HP:0410243 ! Abnormal IgM level [Term] id: HP:0002851 name: Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells alt_id: HP:0002845 def: "An abnormally increased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells." [] synonym: "Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors" EXACT [] xref: UMLS:C1858973 is_a: HP:0031399 ! Abnormal proportion of double-negative alpha-beta regulatory T cell [Term] id: HP:0002853 name: Increased proportion of HLA DR+ T cells def: "An elevated proportion of T cells that express human leukocyte antigen (HLA)-DR. HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation." [PMID:11531958] xref: UMLS:C1858974 is_a: HP:0025540 ! Abnormal T cell subset distribution [Term] id: HP:0002857 name: Genu valgum alt_id: HP:0004999 def: "The legs angle inward, such that the knees are close together and the ankles far apart." [HPO:probinson] subset: hposlim_core synonym: "Genu valga" EXACT [] synonym: "Genu valgus" EXACT [] synonym: "Genua valga" EXACT [] synonym: "Knee joint valgus deformity" EXACT [] synonym: "Knock knees" EXACT layperson [] xref: MEDDRA:10023480 "Knock-knee" xref: MSH:D056304 xref: SNOMEDCT_US:299330008 xref: UMLS:C0576093 is_a: HP:0002815 ! Abnormality of the knee is_a: HP:0002979 ! Bowing of the legs [Term] id: HP:0002858 name: Meningioma alt_id: HP:0006754 def: "The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater." [HPO:probinson] synonym: "Noncancerous growth of membranes covering brain" BROAD layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D008579 xref: NCIT:C3230 xref: UMLS:C0025286 is_a: HP:0100835 ! Benign neoplasm of the central nervous system [Term] id: HP:0002859 name: Rhabdomyosarcoma xref: MSH:D012208 xref: NCIT:C3359 xref: SNOMEDCT_US:302847003 xref: SNOMEDCT_US:30924005 xref: UMLS:C0035412 is_a: HP:0009728 ! Neoplasm of striated muscle is_a: HP:0030448 ! Soft tissue sarcoma [Term] id: HP:0002860 name: Squamous cell carcinoma def: "The presence of squamous cell carcinoma of the skin." [HPO:probinson] synonym: "Squamous cell cancer" BROAD [ORCID:0000-0001-6908-9849] xref: MSH:D002294 xref: MSH:D018307 xref: NCIT:C2929 xref: SNOMEDCT_US:28899001 xref: SNOMEDCT_US:402815007 xref: UMLS:C0007137 xref: UMLS:C0751688 is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0002861 name: Melanoma alt_id: HP:0002887 alt_id: HP:0006777 alt_id: HP:0007474 def: "The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea)." [HPO:probinson] comment: A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis. synonym: "Cancer of skin pigment cells" BROAD layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Malignant melanoma" EXACT [] synonym: "Skin cancer (melanoma)" BROAD layperson [] xref: MSH:D008545 xref: NCIT:C3224 xref: SNOMEDCT_US:2092003 xref: SNOMEDCT_US:372244006 xref: UMLS:C0025202 is_a: HP:0011792 ! Neoplasm by histology [Term] id: HP:0002862 name: Bladder carcinoma def: "The presence of a carcinoma of the urinary bladder." [HPO:probinson] xref: NCIT:C2916 xref: SNOMEDCT_US:255108000 xref: UMLS:C0699885 is_a: HP:0009725 ! Bladder neoplasm [Term] id: HP:0002863 name: Myelodysplasia alt_id: HP:0004832 alt_id: HP:0006730 def: "Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia." [HPO:probinson] synonym: "Hypoplastic myelodysplasia" RELATED [] synonym: "Myelodysplastic syndrome" EXACT [] xref: MSH:D009190 xref: SNOMEDCT_US:109995007 xref: SNOMEDCT_US:128623006 xref: SNOMEDCT_US:188736006 xref: UMLS:C1851971 xref: UMLS:C3463824 is_a: HP:0004377 ! Hematological neoplasm [Term] id: HP:0002864 name: Paraganglioma of head and neck synonym: "Paragangliomas, head and neck" EXACT [] xref: UMLS:C1333944 is_a: HP:0002668 ! Paraganglioma [Term] id: HP:0002865 name: Medullary thyroid carcinoma def: "The presence of a medullary carcinoma of the thyroid gland." [HPO:probinson] synonym: "Medullary thyroid cancer" BROAD [ORCID:0000-0001-6908-9849] xref: MSH:C536914 xref: NCIT:C3879 xref: SNOMEDCT_US:128916007 xref: SNOMEDCT_US:255032005 xref: UMLS:C0238462 is_a: HP:0002890 ! Thyroid carcinoma [Term] id: HP:0002866 name: Hypoplastic iliac wing alt_id: HP:0003169 alt_id: HP:0003181 alt_id: HP:0008837 def: "Underdevelopment of the ilium ala." [HPO:probinson] subset: hposlim_core synonym: "Hypoplastic iliac alae" EXACT [] synonym: "Hypoplastic iliac wings" EXACT [] synonym: "Small iliac wings" EXACT [] xref: UMLS:C1865027 is_a: HP:0000946 ! Hypoplastic ilia is_a: HP:0011867 ! Abnormality of the wing of the ilium [Term] id: HP:0002867 name: Abnormality of the ilium def: "An abnormality of the ilium, the largest and uppermost bone of the pelvis." [HPO:probinson] subset: hposlim_core synonym: "Iliac abnormalities" EXACT [] xref: UMLS:C4021746 is_a: HP:0003272 ! Abnormality of the hip bone [Term] id: HP:0002868 name: Narrow iliac wings def: "Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally)." [HPO:probinson] subset: hposlim_core xref: UMLS:C1836688 is_a: HP:0011867 ! Abnormality of the wing of the ilium [Term] id: HP:0002869 name: Flared iliac wings def: "Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing." [HPO:probinson] subset: hposlim_core synonym: "Flared iliac wing" EXACT [] xref: UMLS:C1865841 is_a: HP:0011867 ! Abnormality of the wing of the ilium [Term] id: HP:0002870 name: Obstructive sleep apnea def: "A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow." [HPO:probinson] synonym: "Obstructive sleep apnoea" RELATED [] xref: MSH:D020181 xref: SNOMEDCT_US:78275009 xref: UMLS:C0520679 is_a: HP:0010535 ! Sleep apnea [Term] id: HP:0002871 name: Central apnea def: "Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow." [HPO:curators] synonym: "Central apnoea" EXACT [] xref: MSH:D020182 xref: UMLS:C0520680 is_a: HP:0002104 ! Apnea [Term] id: HP:0002872 name: Apneic episodes precipitated by illness, fatigue, stress def: "Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress." [HPO:curators] synonym: "Episodic apnea induced by febrile illness or stress" EXACT [] xref: UMLS:C3806462 is_a: HP:0002104 ! Apnea [Term] id: HP:0002875 name: Exertional dyspnea xref: SNOMEDCT_US:60845006 xref: UMLS:C0231807 is_a: HP:0002094 ! Dyspnea [Term] id: HP:0002876 name: Episodic tachypnea alt_id: HP:0002881 def: "Episodes of very rapid breathing." [HPO:probinson] synonym: "Hyperpnea, episodic" EXACT [] xref: UMLS:C3806218 is_a: HP:0002789 ! Tachypnea [Term] id: HP:0002877 name: Nocturnal hypoventilation synonym: "Nocturnal hypopnea" EXACT [ORCID:0000-0001-6908-9849] synonym: "Nocturnal slow breathing" EXACT [ORCID:0000-0001-6908-9849] synonym: "Nocturnal under breathing" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C1843643 is_a: HP:0002791 ! Hypoventilation [Term] id: HP:0002878 name: Respiratory failure alt_id: HP:0004877 def: "A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits." [HPO:probinson] comment: Respiratory failure is classified as type 1 with hypoxemia (arterial partial pressure of oxygen less than 60 mmHg) without hypercapnea, and type 2 with hypoxemia in the present of hypercapnea (partial pressure of carbon dioxide over 50 mmHg). synonym: "Respiratory failure" EXACT layperson [] xref: MSH:D012131 xref: SNOMEDCT_US:409622000 xref: UMLS:C1145670 is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0002879 name: Anisospondyly def: "Abnormally increased variability of the size of the vertebral bodies." [HPO:probinson] xref: UMLS:C1857101 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0002880 name: obsolete Respiratory difficulties is_obsolete: true replaced_by: HP:0002098 [Term] id: HP:0002882 name: Sudden episodic apnea def: "Recurrent bouts of sudden, severe apnea that may be life-threatening." [HPO:probinson] xref: UMLS:C4025671 is_a: HP:0002104 ! Apnea [Term] id: HP:0002883 name: Hyperventilation def: "Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide." [HPO:probinson] synonym: "Rapid breathing" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D006985 xref: SNOMEDCT_US:68978004 xref: UMLS:C0020578 is_a: HP:0002793 ! Abnormal pattern of respiration [Term] id: HP:0002884 name: Hepatoblastoma def: "A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts." [eMedicine:986802, HPO:probinson] comment: Hepatoblastoma occurs nearly exclusively in infants and children. xref: MSH:D018197 xref: NCIT:C3728 xref: SNOMEDCT_US:109843000 xref: SNOMEDCT_US:45024009 xref: UMLS:C0206624 is_a: HP:0002896 ! Neoplasm of the liver is_a: HP:0002898 ! Embryonal neoplasm [Term] id: HP:0002885 name: Medulloblastoma def: "A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults." [HPO:probinson] comment: Medulloblastoma is a highly malignant primary brain tumor that originates in the cerebellum or posterior fossa and belonging to the family of cranial primitive neuroectodermal tumors. xref: MSH:D008527 xref: NCIT:C3222 xref: SNOMEDCT_US:443333004 xref: SNOMEDCT_US:83217000 xref: UMLS:C0025149 is_a: HP:0100836 ! Malignant neoplasm of the central nervous system [Term] id: HP:0002886 name: Vagal paraganglioma def: "A tumor that develops in the retrostyloid compartment of the parapharyngeal space, arising from an island of paraganglion tissue derived from the neural crest that is located on the vagus nerve." [HPO:probinson, PMID:17268589] synonym: "Glomus vagale paraganglioma" RELATED [] synonym: "Glomus vagale tumor" EXACT [] synonym: "Vagal nerve tumors" EXACT [] xref: SNOMEDCT_US:253030004 xref: UMLS:C0474819 is_a: HP:0002864 ! Paraganglioma of head and neck [Term] id: HP:0002888 name: Ependymoma def: "The presence of an ependymoma of the central nervous system." [HPO:probinson] comment: According to MPATH, ependymomas are neoplasms derived from the ependymal cells lining the ventricles and aqueduct of the brain and the central canal of the spinal cord and may be malignant or benign. xref: MSH:D004806 xref: NCIT:C3017 xref: SNOMEDCT_US:443643007 xref: SNOMEDCT_US:57706008 xref: UMLS:C0014474 is_a: HP:0009733 ! Glioma [Term] id: HP:0002890 name: Thyroid carcinoma def: "The presence of a carcinoma of the thyroid gland." [HPO:probinson] xref: MSH:D013964 xref: NCIT:C2916 xref: UMLS:C0549473 is_a: HP:0100031 ! Neoplasm of the thyroid gland [Term] id: HP:0002891 name: Uterine leiomyosarcoma def: "The presence of a leiomyosarcoma of the uterus." [HPO:probinson] comment: Leiomyosarcoma is a malignant tumor derived form pluripotential mesenchymal stem cells or smooth muscle cells [MPATH]. xref: NCIT:C3158 xref: SNOMEDCT_US:447389009 xref: UMLS:C0280631 is_a: HP:0010784 ! Uterine neoplasm is_a: HP:0100243 ! Leiomyosarcoma [Term] id: HP:0002893 name: Pituitary adenoma def: "A benign epithelial tumor derived from intrinsic cells of the adenohypophysis." [DDD:spark] comment: In most cases pituitary adenoma are histologically benign, slow-growing, small neoplasms confined to the sella turcica. Some pituitary adenomas are more aggressive, grow faster, invade surrounding tissues, and cause local symptoms such as visual disturbances, headache, and varying degrees of hypopituitarism. synonym: "Noncancerous tumor in pituitary gland" EXACT layperson [ORCID:0000-0002-6548-5200] xref: ICD-O:M8272/0 "Pituitary adenoma" xref: MSH:D010911 xref: NCIT:C2855 xref: SNOMEDCT_US:128664001 xref: SNOMEDCT_US:254956000 xref: UMLS:C0032000 is_a: HP:0011750 ! Neoplasm of the anterior pituitary [Term] id: HP:0002894 name: Neoplasm of the pancreas alt_id: HP:0004511 def: "A tumor (abnormal growth of tissue) of the pancreas." [HPO:probinson] synonym: "Cancer of the pancreas" EXACT layperson [] synonym: "increased risk of pancreatic cancer" RELATED layperson [] synonym: "Neoplasia of the pancreas" EXACT [] synonym: "Pancreatic cancer" BROAD layperson [] synonym: "Pancreatic tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D010190 xref: NCIT:C3262 xref: SNOMEDCT_US:126859007 xref: SNOMEDCT_US:363418001 xref: UMLS:C0030297 xref: UMLS:C0346647 xref: UMLS:C1842408 is_a: HP:0001732 ! Abnormality of the pancreas is_a: HP:0011793 ! Neoplasm by anatomical site [Term] id: HP:0002895 name: Papillary thyroid carcinoma def: "The presence of a papillary adenocarcinoma of the thyroid gland." [HPO:probinson] synonym: "Papillary carcinoma of thyroid" EXACT [] synonym: "Thyroid papillary carcinoma" EXACT [] xref: MSH:C536915 xref: NCIT:C2853 xref: SNOMEDCT_US:255029007 xref: UMLS:C0238463 is_a: HP:0002890 ! Thyroid carcinoma [Term] id: HP:0002896 name: Neoplasm of the liver def: "A tumor (abnormal growth of tissue) of the liver." [HPO:probinson] synonym: "Liver cancer" EXACT layperson [] synonym: "Liver tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D008113 xref: NCIT:C3262 xref: SNOMEDCT_US:126851005 xref: SNOMEDCT_US:93870000 xref: UMLS:C0023903 xref: UMLS:C0345904 is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract [Term] id: HP:0002897 name: Parathyroid adenoma alt_id: HP:0008257 def: "A benign tumor of the parathyroid gland that can cause hyperparathyroidism." [HPO:probinson] synonym: "Parathyroid adenomas" EXACT [] xref: ICD-10:D35.1 "Benign neoplasm: Parathyroid gland" xref: MSH:D010282 xref: NCIT:C2855 xref: SNOMEDCT_US:128474007 xref: UMLS:C0262587 is_a: HP:0100733 ! Neoplasm of the parathyroid gland [Term] id: HP:0002898 name: Embryonal neoplasm synonym: "Embryonal neoplasia" EXACT [] synonym: "Embryonal tumors" EXACT [] xref: MSH:D009373 xref: UMLS:C0027654 is_a: HP:0011792 ! Neoplasm by histology [Term] id: HP:0002900 name: Hypokalemia def: "An abnormally decreased potassium concentration in the blood." [HPO:probinson] synonym: "Low blood potassium levels" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D007008 xref: SNOMEDCT_US:166690008 xref: SNOMEDCT_US:43339004 xref: UMLS:C0020621 is_a: HP:0011042 ! Abnormal blood potassium concentration [Term] id: HP:0002901 name: Hypocalcemia def: "An abnormally decreased calcium concentration in the blood." [HPO:curators] synonym: "Hypocalcaemia" EXACT [] synonym: "Low blood calcium levels" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D006996 xref: SNOMEDCT_US:5291005 xref: UMLS:C0020598 is_a: HP:0004363 ! Abnormal circulating calcium concentration [Term] id: HP:0002902 name: Hyponatremia def: "An abnormally decreased sodium concentration in the blood." [HPO:probinson] synonym: "Low blood sodium levels" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D007010 xref: SNOMEDCT_US:89627008 xref: UMLS:C0020625 is_a: HP:0010931 ! Abnormal blood sodium concentration [Term] id: HP:0002904 name: Hyperbilirubinemia def: "An increased amount of bilirubin in the blood." [HPO:probinson] synonym: "High blood bilirubin levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:26165005 xref: UMLS:C0311468 is_a: HP:0032180 ! Abnormal circulating metabolite concentration [Term] id: HP:0002905 name: Hyperphosphatemia def: "An abnormally increased phosphate concentration in the blood." [HPO:gcarletti] synonym: "High blood phosphate levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D054559 xref: SNOMEDCT_US:20165001 xref: UMLS:C0085681 xref: UMLS:C0553706 is_a: HP:0100529 ! Abnormal blood phosphate concentration [Term] id: HP:0002907 name: Microscopic hematuria def: "Microscopic hematuria detected by dipstick or microscopic examination of the urine." [HPO:sdoelken] synonym: "Microhematuria" EXACT [] synonym: "Occult hematuria" EXACT [] synonym: "Small amount of blood in urine" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:197940006 xref: UMLS:C0239937 is_a: HP:0000790 ! Hematuria [Term] id: HP:0002908 name: Conjugated hyperbilirubinemia alt_id: HP:0008351 synonym: "Direct hyperbilirubinemia" EXACT [] xref: SNOMEDCT_US:9326001 xref: UMLS:C0268307 is_a: HP:0002904 ! Hyperbilirubinemia [Term] id: HP:0002909 name: Generalized aminoaciduria alt_id: HP:0008284 alt_id: HP:0008317 def: "An increased concentration of all types of amino acid in the urine." [HPO:probinson] comment: This abnormality is distinct from aminoacidurias in which the urinary concentration of a single amino acid, or a of single group of amino acids, is increased. synonym: "Generalized nonspecific aminoaciduria" EXACT [] xref: UMLS:C1847868 is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0002910 name: Elevated hepatic transaminase alt_id: HP:0001411 alt_id: HP:0003143 alt_id: HP:0003156 alt_id: HP:0003293 alt_id: HP:0006567 alt_id: HP:0006578 alt_id: HP:0008267 alt_id: HP:0008342 def: "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:probinson] synonym: "Abnormal liver enzymes" EXACT [] synonym: "Abnormal liver function" EXACT [] synonym: "Abnormal liver function tests" EXACT [] synonym: "Elevated liver enzymes" EXACT [] synonym: "Elevated liver function tests" RELATED [] synonym: "Elevated serum transaminases" EXACT [] synonym: "Elevated transaminases" EXACT [] synonym: "High liver enzymes" EXACT layperson [] synonym: "Increased liver enzymes" EXACT [] synonym: "Increased liver function tests" EXACT [] synonym: "Increased transaminases" EXACT [] synonym: "Subclinical abnormal liver function tests" EXACT [] xref: MSH:D008107 xref: SNOMEDCT_US:166603001 xref: SNOMEDCT_US:166643006 xref: SNOMEDCT_US:75183008 xref: UMLS:C0086565 xref: UMLS:C0151766 xref: UMLS:C0235996 xref: UMLS:C0438237 xref: UMLS:C0438717 xref: UMLS:C0877359 xref: UMLS:C1842003 xref: UMLS:C1848701 is_a: HP:0410042 ! Abnormal liver morphology [Term] id: HP:0002912 name: Methylmalonic acidemia alt_id: HP:0003123 alt_id: HP:0008295 def: "Increased concentration of methylmalonic acid in the blood." [HPO:probinson] comment: Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. xref: MSH:C537358 xref: SNOMEDCT_US:42393006 xref: UMLS:C0268583 is_a: HP:0004341 ! Abnormality of vitamin B12 metabolism is_a: HP:0010995 ! Abnormal circulating dicarboxylic acid concentration is_a: HP:0032368 ! Acidemia [Term] id: HP:0002913 name: Myoglobinuria def: "Presence of myoglobin in the urine." [HPO:probinson] comment: Myoglobinuria is usually associated with rhabdomyolysis or muscle destruction. xref: MSH:D009212 xref: SNOMEDCT_US:48165008 xref: UMLS:C0027080 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0002914 name: Hyperchloriduria def: "An increased concentration of chloride in the urine." [HPO:probinson] synonym: "Increased urinary chloride" EXACT layperson [] xref: UMLS:C1846352 is_a: HP:0012600 ! Abnormal urine chloride concentration [Term] id: HP:0002916 name: Abnormality of chromosome segregation def: "An abnormality of chromosome segregation." [HPO:probinson] xref: UMLS:C4025670 is_a: HP:0011017 ! Abnormal cellular physiology [Term] id: HP:0002917 name: Hypomagnesemia alt_id: HP:0003284 def: "An abnormally decreased magnesium concentration in the blood." [HPO:probinson] synonym: "Low blood magnesium levels" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Low blood Mg levels" EXACT HP:0045077 [] xref: SNOMEDCT_US:190855004 xref: UMLS:C0151723 is_a: HP:0004921 ! Abnormal magnesium concentration [Term] id: HP:0002918 name: Hypermagnesemia def: "An abnormally increased magnesium concentration in the blood." [HPO:probinson] synonym: "High blood magnesium levels" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "High blood Mg levels" EXACT HP:0045077 [] xref: SNOMEDCT_US:66978005 xref: UMLS:C0151714 is_a: HP:0004921 ! Abnormal magnesium concentration [Term] id: HP:0002919 name: Ketonuria def: "High levels of ketone bodies in the urine." [HPO:probinson] comment: Acetone is the main component of the ketone bodies. synonym: "Acetonuria" RELATED [] synonym: "Ketoaciduria" RELATED [HPO:skoehler] synonym: "Ketonaciduria" EXACT [] synonym: "Ketone bodies in urine" EXACT [https://orcid.org/0000-0002-6548-5200] xref: MSH:D007662 xref: SNOMEDCT_US:274783007 xref: SNOMEDCT_US:36815008 xref: UMLS:C0162275 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0002920 name: Decreased circulating ACTH level def: "An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood." [HPO:probinson] xref: UMLS:C4025669 is_a: HP:0011043 ! Abnormality of circulating adrenocorticotropin level [Term] id: HP:0002921 name: Abnormality of the cerebrospinal fluid def: "An abnormality of the cerebrospinal fluid (CSF)." [HPO:probinson] comment: The cerebrospinal fluid (CSF) is secreted by the choroid plexus, and flows uninterrupted throughout the central nervous system (the central cerebrospinal canal of the spinal cord and through the four interconnected cerebral ventricles in the brain). synonym: "Abnormal CSF findings" EXACT HP:0045077 [] synonym: "Abnormality of the CSF" EXACT HP:0045077 [] xref: UMLS:C0151583 is_a: HP:0002011 ! Morphological abnormality of the central nervous system [Term] id: HP:0002922 name: Increased CSF protein def: "Increased concentration of protein in the cerebrospinal fluid." [KI:phemming, PMID:29114301] synonym: "Cerebrospinal fluid protein increased" EXACT [] synonym: "Cerebrospinal fluid with increased protein" EXACT [] synonym: "Elevated cerebrospinal fluid protein" EXACT [] synonym: "Elevated csf protein" EXACT [] synonym: "Hyperproteinorrhachia" EXACT [] synonym: "Increased protein in csf" EXACT [] synonym: "Spinal fluid protein elevated" EXACT [] xref: UMLS:C1806780 is_a: HP:0025456 ! Abnormal CSF protein level [Term] id: HP:0002923 name: Rheumatoid factor positive def: "The presence in the serum of an autoantibody directed against the Fc portion of IgG." [HPO:probinson] xref: SNOMEDCT_US:165839004 xref: UMLS:C0151379 is_a: HP:0030057 ! Autoimmune antibody positivity [Term] id: HP:0002924 name: obsolete Decreased circulating aldosterone level is_obsolete: true replaced_by: HP:0004319 [Term] id: HP:0002925 name: Increased thyroid-stimulating hormone level def: "Overproduction of thyroid-stimulating hormone (TSH) by the anterior pituitary gland." [DDD:spark] synonym: "Elevated thyroid stimulating hormone" EXACT [] synonym: "Elevated thyroid stimulating hormone levels" EXACT [] synonym: "High TSH" EXACT HP:0045077 [] synonym: "Increased serum thyroid-stimulating hormone" EXACT [] synonym: "Increased thyroid-stimulating hormone" EXACT [] synonym: "Increased thyrotropin level" EXACT [] synonym: "Thyroid-stimulating hormone excess" EXACT [] synonym: "TSH excess" EXACT HP:0045077 [] xref: SNOMEDCT_US:309080005 xref: UMLS:C0586553 is_a: HP:0031097 ! Abnormal thyroid-stimulating hormone level [Term] id: HP:0002926 name: Abnormality of thyroid physiology def: "An abnormal functionality of the thyroid gland." [HPO:probinson] synonym: "Abnormal thyroid function" EXACT layperson [HPO:skoehler] xref: UMLS:C0857576 is_a: HP:0000820 ! Abnormality of the thyroid gland [Term] id: HP:0002927 name: Histidinuria alt_id: HP:0010905 def: "An increased concentration of histidine in the urine." [HPO:probinson, pmid:18901181, pmid:20240447] comment: Normal urinary histidine total (free and combined form) excretion is around 190 mg per 24 hours. synonym: "High urine histidine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:C538321 xref: SNOMEDCT_US:78311009 xref: UMLS:C0268642 is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0002928 name: Decreased activity of the pyruvate dehydrogenase complex synonym: "Decreased activity of the PDH complex" EXACT [] synonym: "Pyruvate dehydrogenase complex deficiency" EXACT [] xref: UMLS:C1839888 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0002929 name: Leydig cell insensitivity to gonadotropin xref: UMLS:C4025668 is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0002930 name: Thyroid hormone receptor defect alt_id: HP:0008215 alt_id: HP:0008243 alt_id: HP:0008262 def: "Thyroid hormone resistance because of a defect in the thyroid hormone receptor." [DDD:spark] synonym: "End-organ unresponsiveness to thyroid hormone" EXACT [] synonym: "Resistance to thyroid hormone" EXACT [] synonym: "Thyroid hormone resistance" EXACT [] xref: MSH:D018382 xref: SNOMEDCT_US:111567006 xref: SNOMEDCT_US:237559000 xref: SNOMEDCT_US:237560005 xref: SNOMEDCT_US:50375007 xref: UMLS:C2940786 is_a: HP:0002926 ! Abnormality of thyroid physiology [Term] id: HP:0002932 name: Aldehyde oxidase deficiency def: "A reduction in aldehyde oxidase activity." [HPO:probinson] comment: Aldehyde oxidase generates carboxylic acids from aldehydes. xref: SNOMEDCT_US:124161002 xref: UMLS:C1291266 is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity [Term] id: HP:0002933 name: Ventral hernia def: "Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall." [HPO:probinson, HPO:skoehler] xref: MSH:D006555 xref: SNOMEDCT_US:414396006 xref: UMLS:C0019326 is_a: HP:0004299 ! Hernia of the abdominal wall [Term] id: HP:0002936 name: Distal sensory impairment alt_id: HP:0003476 alt_id: HP:0006843 alt_id: HP:0006845 alt_id: HP:0006922 alt_id: HP:0006971 alt_id: HP:0006993 alt_id: HP:0007138 alt_id: HP:0007292 alt_id: HP:0007296 def: "An abnormal reduction in sensation in the distal portions of the extremities." [HPO:probinson] synonym: "Decreased distal sensation" EXACT [] synonym: "Decreased sensation in extremities" EXACT layperson [orcid.org/0000-0002-6548-5200] synonym: "Distal sensation loss" EXACT [] synonym: "Distal sensory impairment in lower limbs" EXACT [] synonym: "Distal sensory impairment of the lower extremities" EXACT [] synonym: "Distal sensory loss" EXACT [] synonym: "Distal sensory loss, upper and lower limbs" EXACT [] synonym: "Loss of distal sensation" EXACT [] xref: UMLS:C1847584 is_a: HP:0003474 ! Sensory impairment [Term] id: HP:0002937 name: Hemivertebrae def: "Absence of one half of the vertebral body." [HPO:probinson] comment: Lateral hemivertebrae represent a developmental defect resulting from the failure of the contralateral chondral center to develop. Dorsal hemivertebrae result from a developmental defect in which the anterior chondral centers fail to develop, and ventral hemivertebrae result from failure of the posterior centers to ossify. The affected half of the vertebral body may by hypoplastic or absent, as is the pedicle, and (for thoracic vetebrae) the corresponding rib. The affected half of the vertebral body may also show a fusion or segmentation defect. subset: hposlim_core synonym: "Hemi-vertebrae" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Hemivertebra" EXACT [] synonym: "Missing part of vertebrae" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:68359008 xref: UMLS:C0265677 is_a: HP:0003312 ! Abnormal form of the vertebral bodies is_a: HP:0003422 ! Vertebral segmentation defect [Term] id: HP:0002938 name: Lumbar hyperlordosis alt_id: HP:0002941 alt_id: HP:0004560 alt_id: HP:0004574 alt_id: HP:0004596 def: "An abnormal accentuation of the inward curvature of the spine in the lumbar region." [HPO:probinson] synonym: "Exaggerated lumbar lordosis" EXACT [] synonym: "Excessive inward curvature of lower spine" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Increased lumbar lordosis" EXACT [] synonym: "Lumbar lordosis" EXACT [] synonym: "Prominent lumbar lordosis" EXACT [] xref: UMLS:C1184923 is_a: HP:0003307 ! Hyperlordosis [Term] id: HP:0002942 name: Thoracic kyphosis def: "Over curvature of the thoracic region, leading to a round back or if sever to a hump." [HPO:probinson] synonym: "Accentuated thoracic kyphosis" EXACT [] synonym: "Exaggerated thoracic kyphosis" EXACT [] xref: UMLS:C1184919 is_a: HP:0002808 ! Kyphosis is_a: HP:0100711 ! Abnormality of the thoracic spine [Term] id: HP:0002943 name: Thoracic scoliosis alt_id: HP:0004615 xref: UMLS:C1857790 is_a: HP:0002650 ! Scoliosis is_a: HP:0100711 ! Abnormality of the thoracic spine [Term] id: HP:0002944 name: Thoracolumbar scoliosis alt_id: HP:0004567 alt_id: HP:0004585 synonym: "Scoliosis, thoracolumbar" EXACT [] xref: UMLS:C0749379 is_a: HP:0002650 ! Scoliosis [Term] id: HP:0002945 name: Intervertebral space narrowing def: "Decreased height of the intervertebral disk." [HPO:probinson] comment: A decrease in the height of the intervertebral disks is usually observed as a narrowing of the space between the vertebrae on X-ray examination. synonym: "Narrow intervertebral disc spaces" EXACT [] synonym: "Narrow intervertebral spaces" EXACT [] xref: SNOMEDCT_US:11301007 xref: UMLS:C0263870 is_a: HP:0005108 ! Abnormality of the intervertebral disk [Term] id: HP:0002946 name: Supernumerary vertebrae xref: SNOMEDCT_US:87294007 xref: UMLS:C0265681 is_a: HP:0009144 ! Supernumerary bones of the axial skeleton is_a: HP:0030304 ! Abnormal number of vertebrae [Term] id: HP:0002947 name: Cervical kyphosis def: "Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance." [HPO:probinson] synonym: "Rounded neck" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:298393001 xref: UMLS:C0575170 is_a: HP:0002808 ! Kyphosis is_a: HP:0005905 ! Abnormal cervical curvature [Term] id: HP:0002948 name: Vertebral fusion alt_id: HP:0002807 alt_id: HP:0008471 alt_id: HP:0008485 def: "A developmental defect leading to the union of two adjacent vertebrae." [HPO:probinson] subset: hposlim_core synonym: "Fused vertebrae" EXACT [] synonym: "Fusion of vertebral bodies" EXACT [] synonym: "Spinal fusion" EXACT layperson [] synonym: "Vertebral body fusion" EXACT [] xref: UMLS:C1835763 xref: UMLS:C1849073 xref: UMLS:C3278509 is_a: HP:0003422 ! Vertebral segmentation defect is_a: HP:0100240 ! Synostosis of joints [Term] id: HP:0002949 name: Fused cervical vertebrae def: "A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another." [] synonym: "Cervical spine fusion" EXACT [ORCID:0000-0001-6908-9849] synonym: "Cervical vertebral fusion" EXACT [] synonym: "Fused neck" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Fusion of cervical vertebrae" EXACT [] xref: UMLS:C3887527 is_a: HP:0002948 ! Vertebral fusion [Term] id: HP:0002951 name: Partial absence of cerebellar vermis def: "Congenital absence of a part of the vermis of cerebellum." [HPO:probinson] xref: UMLS:C4025667 is_a: HP:0006817 ! Aplasia/Hypoplasia of the cerebellar vermis [Term] id: HP:0002953 name: Vertebral compression fractures synonym: "Compression fracture" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Fractures of vertebral bodies" EXACT [] synonym: "Vertebral body compression" EXACT [] synonym: "Vertebral collapse" EXACT [] synonym: "Vertebral compression" EXACT [] synonym: "Vertebral compression or collapse" EXACT [] xref: SNOMEDCT_US:42942008 xref: SNOMEDCT_US:84138006 xref: UMLS:C0262431 xref: UMLS:C0410550 is_a: HP:0003468 ! Abnormal vertebral morphology [Term] id: HP:0002955 name: Granulomatosis def: "A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity." [HPO:probinson, PMID:10908370, PMID:937513] comment: This finding can be demonstrated by tissue biopsy. A granuloma is a compact (organized) collection of mature mononuclear phagocytes (macrophages and/or epithelioid cells) which may or may not be accompanied by accessory features such as necrosis or the infiltration of other inflammatory leukocytes (Adams DO. The granulomatous inflammatory response. Am J Pathol 1976:84:163-192). xref: SNOMEDCT_US:443138004 xref: SNOMEDCT_US:44328006 xref: UMLS:C0521173 is_a: HP:0004311 ! Abnormal macrophage morphology [Term] id: HP:0002958 name: Immune dysregulation def: "Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications." [PMID:26233425] synonym: "Immune dysregulation" EXACT layperson [] synonym: "Unregulated immune response" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1844666 is_a: HP:0010978 ! Abnormality of immune system physiology [Term] id: HP:0002959 name: Impaired Ig class switch recombination def: "An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE." [HPO:probinson, pmid:11544001] comment: The generation of the antibody repertoire requires two successive steps. The first is antigen- and T-cell-independent; it takes place in the fetal liver and the bone marrow. Immature B lymphocytes rearrange their immunoglobulin-gene variable segments (V segments), diversity segments (D segments) and joining segments (J segments), producing a functionally integrated VDJ segment linked to the mu constant region (C-mu), which determines the primary antibody repertoire composed of IgM antibodies. The second step is antigen- and T-cell-dependent and takes place in secondary lymphoid organs. After encountering antigen, B cells proliferate and form germinal centers. In this unique anatomic formation, two genetic events lead to generation of the secondary antibody repertoire: class-switch recombination (CSR) and somatic hypermutation (SHM). CSR of immunoglobulins occurs by a recombination process between two different switch regions (S regions) located upstream of each C region. Replacement of C-mu by a constant region of another class of immunoglobulin (C-gamma, C-alpha or C-epsilon) ensues and leads to the production of IgG, IgA or IgE. synonym: "Impaired B-lymphocyte isotype switching" EXACT [] xref: UMLS:C1842528 is_a: HP:0005372 ! Abnormality of B cell physiology [Term] id: HP:0002960 name: Autoimmunity def: "The occurrence of an immune reaction against the organism's own cells or tissues." [HPO:probinson] synonym: "Autoimmune condition" EXACT [] synonym: "Autoimmune disease" EXACT layperson [] synonym: "Autoimmune disorder" EXACT layperson [] synonym: "Autoimmunity" EXACT layperson [] xref: MSH:D001327 xref: SNOMEDCT_US:85828009 xref: UMLS:C0004364 is_a: HP:0010978 ! Abnormality of immune system physiology [Term] id: HP:0002961 name: Dysgammaglobulinemia def: "Selective deficiency of one or more, but not all, classes of immunoglobulins." [HPO:probinson] xref: MSH:D004406 xref: SNOMEDCT_US:123782009 xref: UMLS:C0013374 is_a: HP:0004313 ! Decreased antibody level in blood [Term] id: HP:0002963 name: Abnormal delayed hypersensitivity skin test def: "Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter." [HPO:probinson] comment: This is an immune function test measuring the presence of activated T cells that recognize a certain substance. xref: UMLS:C1833172 is_a: HP:0011840 ! Abnormality of T cell physiology [Term] id: HP:0002965 name: Cutaneous anergy alt_id: HP:0005427 def: "Inability to react to a delayed hypersensitivity skin test." [HPO:probinson] comment: Anergy skin testing assesses the responses to skin-test antigens to which a cell-mediated, delayed-type hypersensitivity (DTH) response is expected. synonym: "Absence of delayed hypersensitivity skin test" EXACT [] synonym: "Lack of delayed skin hypersensitivity reaction" EXACT [] xref: UMLS:C1855781 is_a: HP:0002963 ! Abnormal delayed hypersensitivity skin test [Term] id: HP:0002967 name: Cubitus valgus def: "Abnormal positioning in which the elbows are turned out." [HPO:probinson] subset: hposlim_core synonym: "Outward turned elbows" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:54583007 xref: UMLS:C0158465 is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0002970 name: Genu varum alt_id: HP:0003052 def: "A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together." [HPO:probinson] subset: hposlim_core synonym: "Genu vara" EXACT [] synonym: "Genua vara" EXACT [] synonym: "Outward bow-leggedness" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Outward bowing at knees" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D056305 xref: SNOMEDCT_US:299331007 xref: UMLS:C0544755 is_a: HP:0002815 ! Abnormality of the knee is_a: HP:0002979 ! Bowing of the legs [Term] id: HP:0002971 name: Absent microvilli on the surface of peripheral blood lymphocytes def: "Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes." [PMID:15130947] xref: UMLS:C1833173 is_a: HP:0004332 ! Abnormal lymphocyte morphology [Term] id: HP:0002972 name: Reduced delayed hypersensitivity alt_id: HP:0005434 def: "Decreased ability to react to a delayed hypersensitivity skin test." [HPO:probinson] synonym: "Decreased reactivity to skin test antigens" EXACT [] synonym: "Deficiency of delayed skin hypersensitivity" EXACT [] synonym: "Impaired delayed hypersensitivity" EXACT [] xref: UMLS:C1843386 is_a: HP:0002963 ! Abnormal delayed hypersensitivity skin test [Term] id: HP:0002973 name: Abnormality of the forearm def: "An abnormality of the lower arm." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the forearm" EXACT layperson [] xref: UMLS:C4025666 is_a: HP:0002817 ! Abnormality of the upper limb [Term] id: HP:0002974 name: Radioulnar synostosis alt_id: HP:0003962 def: "An abnormal osseous union (fusion) between the radius and the ulna." [HPO:probinson] subset: hposlim_core synonym: "Fused forearm bones" EXACT layperson [] xref: MEDDRA:10037798 "Radioulnar synostosis" xref: MSH:C562408 xref: SNOMEDCT_US:33313004 xref: UMLS:C0158761 is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0002997 ! Abnormality of the ulna is_a: HP:0100238 ! Synostosis involving bones of the upper limbs [Term] id: HP:0002977 name: Aplasia/Hypoplasia involving the central nervous system alt_id: HP:0001323 def: "Absence or underdevelopment of tissue in the central nervous system." [HPO:probinson] synonym: "Absent/underdeveloped central nervous system tissue" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia/Hypoplasia involving the CNS" EXACT HP:0045077 [] xref: UMLS:C4025665 is_a: HP:0002011 ! Morphological abnormality of the central nervous system created_by: peter creation_date: 2008-03-31T05:13:00Z [Term] id: HP:0002979 name: Bowing of the legs alt_id: HP:0006428 def: "A bending or abnormal curvature affecting a long bone of the leg." [HPO:probinson] synonym: "Bow legs" EXACT [] synonym: "Bow-leggedness" EXACT [] synonym: "Bowed legs" EXACT layperson [] synonym: "Bowed lower limbs" EXACT layperson [] xref: MSH:D056305 xref: SNOMEDCT_US:299331007 xref: UMLS:C0544755 is_a: HP:0002981 ! Abnormality of the calf is_a: HP:0006487 ! Bowing of the long bones [Term] id: HP:0002980 name: Femoral bowing alt_id: HP:0004998 def: "Bowing (abnormal curvature) of the femur." [HPO:probinson] subset: hposlim_core synonym: "Bowed femur" EXACT [] synonym: "Bowed femura" EXACT [HPO:skoehler] synonym: "Bowed femurs" EXACT [HPO:skoehler] synonym: "Bowed thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1859461 is_a: HP:0002823 ! Abnormality of femur morphology is_a: HP:0002979 ! Bowing of the legs [Term] id: HP:0002981 name: Abnormality of the calf def: "An abnormality of the calf, i.e. of the posterior part of the lower leg." [HPO:probinson] synonym: "Abnormality of the calf" EXACT layperson [] xref: UMLS:C4021832 is_a: HP:0002814 ! Abnormality of the lower limb [Term] id: HP:0002982 name: Tibial bowing alt_id: HP:0006363 def: "A bending or abnormal curvature of the tibia." [HPO:probinson] comment: A developmental defect with posteromedial tibial angulation. subset: hposlim_core synonym: "Bowed shankbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bowed shinbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bowed tibia" EXACT [] synonym: "Bowing of the tibia" EXACT [] xref: UMLS:C1837081 is_a: HP:0002979 ! Bowing of the legs is_a: HP:0002992 ! Abnormality of tibia morphology [Term] id: HP:0002983 name: Micromelia alt_id: HP:0003030 alt_id: HP:0005753 def: "The presence of abnormally small extremities." [HPO:probinson] subset: hposlim_core synonym: "Smaller or shorter than typical limbs" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MEDDRA:10027546 "Micromelia" xref: SNOMEDCT_US:74370006 xref: UMLS:C0025995 is_a: HP:0009826 ! Limb undergrowth [Term] id: HP:0002984 name: Hypoplasia of the radius alt_id: HP:0002995 alt_id: HP:0004989 alt_id: HP:0005014 alt_id: HP:0005081 alt_id: HP:0005714 alt_id: HP:0006418 def: "Underdevelopment of the radius." [HPO:probinson] subset: hposlim_core synonym: "Hypoplastic radii" EXACT [] synonym: "Hypoplastic radius" EXACT [] synonym: "Radial hypoplasia" EXACT [] synonym: "Radial ray hypoplasia" RELATED [] synonym: "Short radii" EXACT [] synonym: "Short radius" EXACT [] synonym: "Shortening of radius" EXACT [] synonym: "Underdeveloped outer large forearm bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:205170001 xref: SNOMEDCT_US:93288001 xref: UMLS:C0685381 xref: UMLS:C1840087 is_a: HP:0006501 ! Aplasia/Hypoplasia of the radius is_a: HP:0009821 ! Forearm undergrowth is_a: HP:0045009 ! Abnormal morphology of the radius [Term] id: HP:0002986 name: Radial bowing alt_id: HP:0004996 def: "A bending or abnormal curvature of the radius." [HPO:probinson] subset: hposlim_core synonym: "Bowed radii" EXACT [] synonym: "Bowed radius" EXACT [] synonym: "Bowing of outer large bone of the forearm" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Bowing of radius bone of the forearm" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1859399 is_a: HP:0003956 ! Bowed forearm bones is_a: HP:0045008 ! Abnormal shape of the radius [Term] id: HP:0002987 name: Elbow flexion contracture alt_id: HP:0003937 alt_id: HP:0004984 alt_id: HP:0005654 def: "A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow." [HPO:probinson] synonym: "Contracture of elbow joint" EXACT [] synonym: "Contractures of elbows" EXACT layperson [] synonym: "Contractures of the elbows" EXACT [] synonym: "Elbow contracture" EXACT layperson [] synonym: "Elbow contractures" EXACT layperson [] synonym: "Elbow flexion contractures" EXACT [] synonym: "Elbow flexion deformity" EXACT [] synonym: "Fixed flexion at the elbow joint" EXACT [] xref: SNOMEDCT_US:202271004 xref: UMLS:C0409338 is_a: HP:0002996 ! Limited elbow movement is_a: HP:0100360 ! Contractures of the joints of the upper limbs [Term] id: HP:0002990 name: Fibular aplasia alt_id: HP:0006373 def: "Absence of the fibula." [HPO:probinson] subset: hposlim_core synonym: "Absent calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent fibulae" EXACT [] synonym: "Absent-hypoplastic fibulae" EXACT [] xref: MEDDRA:10054882 "Fibula agenesis" xref: UMLS:C1836186 is_a: HP:0006492 ! Aplasia/Hypoplasia of the fibula [Term] id: HP:0002991 name: Abnormality of fibula morphology def: "An anomaly of the calf bone (fibula), one of the two bones of the calf." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025664 is_a: HP:0002981 ! Abnormality of the calf is_a: HP:0040066 ! Abnormal morphology of bones of the lower limbs [Term] id: HP:0002992 name: Abnormality of tibia morphology def: "Abnormality of the tibia (shinbone)." [HPO:curators] synonym: "Abnormality of the shankbone" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Abnormality of the shinbone" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4025663 is_a: HP:0002981 ! Abnormality of the calf is_a: HP:0040066 ! Abnormal morphology of bones of the lower limbs [Term] id: HP:0002996 name: Limited elbow movement alt_id: HP:0006395 synonym: "Decreased elbow mobility" EXACT layperson [] synonym: "Limited elbow mobility" EXACT layperson [] synonym: "Limited elbow movement" EXACT layperson [] synonym: "Restricted elbow motion" EXACT layperson [] xref: UMLS:C1849955 is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0002997 name: Abnormality of the ulna def: "An abnormality of the ulna bone of the forearm." [HPO:probinson] subset: hposlim_core xref: UMLS:C4025662 is_a: HP:0040072 ! Abnormality of forearm bone [Term] id: HP:0002999 name: Patellar dislocation def: "The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove." [HPO:probinson] synonym: "Dislocated kneecap" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Dislocated patellae" EXACT [] synonym: "Dislocation of patella" EXACT [] xref: MSH:D031222 xref: SNOMEDCT_US:263029007 xref: UMLS:C1135812 is_a: HP:0003045 ! Abnormal patella morphology is_a: HP:0030311 ! Lower extremity joint dislocation [Term] id: HP:0003001 name: Glomus jugular tumor synonym: "Glomus jugulare tumor" EXACT [] synonym: "Glomus jugulare tumors" EXACT [] xref: MSH:D005925 xref: SNOMEDCT_US:127030001 xref: SNOMEDCT_US:32037004 xref: UMLS:C0017671 is_a: HP:0002864 ! Paraganglioma of head and neck [Term] id: HP:0003002 name: Breast carcinoma def: "The presence of a carcinoma of the breast." [HPO:probinson] synonym: "Breast cancer" EXACT layperson [] xref: MSH:D001943 xref: NCIT:C2916 xref: SNOMEDCT_US:254838004 xref: UMLS:C0678222 is_a: HP:0100013 ! Neoplasm of the breast [Term] id: HP:0003003 name: Colon cancer alt_id: HP:0006718 synonym: "Colon cancer" EXACT layperson [] xref: MSH:D003110 xref: SNOMEDCT_US:363406005 xref: UMLS:C0007102 is_a: HP:0100273 ! Neoplasm of the colon [Term] id: HP:0003005 name: Ganglioneuroma def: "A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells." [HPO:probinson] comment: Ganglioneuromas and ganglioneuroblastomas are tumors of the sympathetic nervous system. They originate from neural crest sympathogonia, which are completely undifferentiated cells of the sympathetic nervous system. xref: MSH:D005729 xref: SNOMEDCT_US:116371000119107 xref: SNOMEDCT_US:128919000 xref: SNOMEDCT_US:53801007 xref: UMLS:C0017075 is_a: HP:0030450 ! Neuroplasm of the autonomic nervous system [Term] id: HP:0003006 name: Neuroblastoma alt_id: HP:0006738 def: "Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum." [HPO:probinson] synonym: "Cancer of early nerve cells" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D009447 xref: NCIT:C3270 xref: SNOMEDCT_US:432328008 xref: SNOMEDCT_US:87364003 xref: UMLS:C0027819 is_a: HP:0004376 ! Neuroblastic tumors is_a: HP:0030067 ! Peripheral primitive neuroectodermal neoplasm [Term] id: HP:0003009 name: Enhanced neurotoxicity of vincristine xref: UMLS:C4025661 is_a: HP:0000759 ! Abnormal peripheral nervous system morphology [Term] id: HP:0003010 name: Prolonged bleeding time alt_id: HP:0008294 alt_id: HP:0008337 def: "Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding." [DDD:mumford] comment: The bleeding time test measures the time taken for blood vessel constriction and platelet plug formation to occur. No clot is allowed to form, so that the arrest of bleeding depends exclusively on blood vessel constriction and platelet action. To perform the test, pressure is maintained throughout the test by inflating a sphygmomanometer cuff on the upper arm. The dorsal surface of the forearm is then cleaned, and the bleeding time device placed onto the skin and the trigger is depressed. At 30-second intervals, the flow of blood is blotted with filter paper. The time from puncture to cessation of bleeding is then recorded as the bleeding time. Normal values depend on the device used and other parameters, but are around 2 to 9 minutes. synonym: "Increased bleeding time" EXACT [] synonym: "Prolonged bleeding time" EXACT layperson [] xref: UMLS:C0151529 is_a: HP:0001892 ! Abnormal bleeding [Term] id: HP:0003011 name: Abnormality of the musculature alt_id: HP:0003197 alt_id: HP:0003708 def: "Abnormality originating in one or more muscles, i.e., of the set of muscles of body." [HPO:probinson] synonym: "Muscular abnormality" EXACT layperson [] xref: UMLS:C4021745 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0003013 name: Bulging epiphyses def: "A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant)." [HPO:probinson] synonym: "Bulging end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1833329 is_a: HP:0010580 ! Enlarged epiphyses [Term] id: HP:0003015 name: Flared metaphysis alt_id: HP:0000945 alt_id: HP:0003047 alt_id: HP:0004994 alt_id: HP:0005015 alt_id: HP:0005095 alt_id: HP:0200002 def: "The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones." [HPO:probinson, pmid:12853662] comment: Figure 11 of pmid:12853662 shows metaphyseal flaring. synonym: "Flared wide portion of long bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Flared, widened metaphyses" EXACT [] synonym: "marked metaphyseal flaring of long bones" EXACT [] synonym: "Metaphyseal flaring" EXACT [] synonym: "Metaphyseal flaring of long bones" EXACT [] synonym: "Metaphyseal splaying" EXACT [] synonym: "Metaphyses flared" EXACT [] synonym: "Splayed metaphyses" EXACT [] xref: UMLS:C1850135 is_a: HP:0003016 ! Metaphyseal widening [Term] id: HP:0003016 name: Metaphyseal widening alt_id: HP:0005074 def: "Abnormal widening of the metaphyseal regions of long bones." [HPO:probinson] synonym: "Broad wide portion of long bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide metaphyses" EXACT [] synonym: "Widened long bone metaphyses" EXACT [] synonym: "Widened metaphyses" EXACT [] xref: UMLS:C1849039 is_a: HP:0000944 ! Abnormality of the metaphysis [Term] id: HP:0003019 name: Abnormality of the wrist alt_id: HP:0001224 def: "Abnormality of the wrist, the structure connecting the hand and the forearm." [HPO:probinson] subset: hposlim_core synonym: "Abnormalities of the wrists" EXACT layperson [] synonym: "Abnormality of the wrist" EXACT layperson [] xref: UMLS:C4021744 is_a: HP:0009810 ! Abnormality of upper limb joint [Term] id: HP:0003020 name: Enlargement of the wrists synonym: "Enlargement of the wrists" EXACT layperson [] xref: UMLS:C1838663 is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0003021 name: Metaphyseal cupping def: "Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance." [HPO:probinson] xref: UMLS:C1837082 is_a: HP:0000944 ! Abnormality of the metaphysis [Term] id: HP:0003022 name: Hypoplasia of the ulna alt_id: HP:0002998 alt_id: HP:0005842 alt_id: HP:0006388 alt_id: HP:0006444 def: "Underdevelopment of the ulna." [HPO:curators] subset: hposlim_core synonym: "Hypoplastic ulna" EXACT [] synonym: "Short ulna" EXACT [] synonym: "Short ulnae" EXACT [] synonym: "Ulnar hypoplasia" EXACT [] synonym: "Underdeveloped inner large forearm bone" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Underdeveloped ulna" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:C538069 xref: UMLS:C1860614 xref: UMLS:C1862132 is_a: HP:0006495 ! Aplasia/Hypoplasia of the ulna is_a: HP:0009821 ! Forearm undergrowth is_a: HP:0040071 ! Abnormal morphology of ulna [Term] id: HP:0003023 name: Bowing of limbs due to multiple fractures def: "Curvature of the shafts of the long bones due to multiple fractures." [HPO:curators] synonym: "Bowed limbs due to multiple fractures" EXACT [] xref: UMLS:C1850178 is_a: HP:0002659 ! Increased susceptibility to fractures [Term] id: HP:0003025 name: Metaphyseal irregularity alt_id: HP:0003017 alt_id: HP:0004995 alt_id: HP:0005016 alt_id: HP:0005032 alt_id: HP:0005038 alt_id: HP:0005058 alt_id: HP:0005062 alt_id: HP:0005065 alt_id: HP:0005078 alt_id: HP:0005896 def: "Irregularity of the normally smooth surface of the metaphyses." [HPO:probinson] synonym: "Frayed, irregular metaphyses" EXACT [] synonym: "Frayed, irregular, metaphyses" EXACT [] synonym: "Irregular metaphyses" EXACT [] synonym: "Irregular wide portion of a long bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Metaphyseal fraying" EXACT [] synonym: "Metaphyseal irregularities" EXACT [] xref: UMLS:C1838662 is_a: HP:0000944 ! Abnormality of the metaphysis [Term] id: HP:0003026 name: Short long bone alt_id: HP:0000949 alt_id: HP:0004983 alt_id: HP:0004988 alt_id: HP:0005000 alt_id: HP:0005029 alt_id: HP:0005044 alt_id: HP:0005052 alt_id: HP:0005077 alt_id: HP:0005083 alt_id: HP:0005647 alt_id: HP:0005822 alt_id: HP:0006382 alt_id: HP:0006457 alt_id: HP:0006472 def: "One or more abnormally short long bone." [HPO:probinson] comment: Long bones are also known as tubular bones. synonym: "Long bone shortening" EXACT layperson [] synonym: "Short long bone" EXACT layperson [] synonym: "Short tubular bones" EXACT [] synonym: "shortened long tubular bones" EXACT [] xref: UMLS:C1854912 is_a: HP:0011314 ! Abnormality of long bone morphology [Term] id: HP:0003027 name: Mesomelia def: "Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments." [HPO:sdoelken] comment: Shortening of the limbs where the predominant shortness is in the middle bones. synonym: "Disproportionately short middle portion of limb" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Mesomelic limb shortening" EXACT [] synonym: "Mesomelic shortening of limbs" EXACT [] synonym: "Symmetric mesomelic limb shortness" EXACT [] xref: UMLS:C0549306 is_a: HP:0009826 ! Limb undergrowth [Term] id: HP:0003028 name: Abnormality of the ankles subset: hposlim_core synonym: "Abnormality of the ankles" EXACT layperson [] xref: UMLS:C4025660 is_a: HP:0100491 ! Abnormality of lower limb joint [Term] id: HP:0003029 name: Enlargement of the ankles synonym: "Enlargement of the ankles" EXACT layperson [] xref: UMLS:C1838664 is_a: HP:0003028 ! Abnormality of the ankles [Term] id: HP:0003031 name: Ulnar bowing alt_id: HP:0003983 def: "Bending of the diaphysis (shaft) of the ulna." [HPO:probinson] comment: Ulnar bowing is usually in the convex posterior direction. subset: hposlim_core synonym: "Bowed ulna" EXACT [] synonym: "Curved ulna" EXACT [] synonym: "Curving of inner forearm bone" EXACT layperson [ORCID:0000-0002-6548-5200] xref: UMLS:C1865847 is_a: HP:0002997 ! Abnormality of the ulna is_a: HP:0003956 ! Bowed forearm bones [Term] id: HP:0003034 name: Diaphyseal sclerosis alt_id: HP:0005611 def: "An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Craniodiaphyseal osteosclerosis" EXACT [] synonym: "Diaphyseal osteosclerosis" EXACT [] synonym: "Increased bone density in shaft of long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D003966 xref: SNOMEDCT_US:318761000119105 xref: SNOMEDCT_US:34643004 xref: UMLS:C0011989 is_a: HP:0000940 ! Abnormal diaphysis morphology is_a: HP:0006392 ! Increased density of long bones [Term] id: HP:0003037 name: Enlarged joints def: "Increase in size of one or more joints." [HPO:probinson] subset: hposlim_core synonym: "Enlarged joints" EXACT layperson [] synonym: "Prominent joints" RELATED [] xref: UMLS:C1859111 is_a: HP:0001367 ! Abnormal joint morphology [Term] id: HP:0003038 name: Fibular hypoplasia alt_id: HP:0002985 alt_id: HP:0005887 alt_id: HP:0006401 def: "Underdevelopment of the fibula." [HPO:probinson] subset: hposlim_core synonym: "Hypoplastic fibula" EXACT [] synonym: "Short calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short fibula" EXACT [] synonym: "Short fibulae" EXACT [] xref: UMLS:C1832119 is_a: HP:0003026 ! Short long bone is_a: HP:0006492 ! Aplasia/Hypoplasia of the fibula [Term] id: HP:0003040 name: Arthropathy synonym: "Disease of the joints" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D007592 xref: SNOMEDCT_US:399269003 xref: UMLS:C0022408 is_a: HP:0001367 ! Abnormal joint morphology [Term] id: HP:0003041 name: Humeroradial synostosis alt_id: HP:0003936 def: "An abnormal osseous union (fusion) between the radius and the humerus." [HPO:sdoelken] synonym: "Fusion of upper and lower arm bones" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Humeral radial synostosis" EXACT [] synonym: "Humeral-radial synostosis" EXACT [] synonym: "Radiohumeral synostosis of elbow" EXACT [] synonym: "Synostosis of radius and humerus" EXACT [] xref: MSH:C535284 xref: SNOMEDCT_US:205329008 xref: UMLS:C1863360 xref: UMLS:C2930865 is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0003938 ! Synostosis involving the elbow is_a: HP:0100744 ! Abnormality of the humeroradial joint [Term] id: HP:0003042 name: Elbow dislocation alt_id: HP:0006411 def: "Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet." [HPO:probinson] synonym: "Dislocations of the elbows" EXACT layperson [] synonym: "Elbow dislocation" EXACT layperson [] synonym: "Elbow dislocations" EXACT layperson [] synonym: "Radiocapitellar dislocation" EXACT [] synonym: "Radiohumeral dislocation" EXACT [] synonym: "Ulnohumeral dislocation" EXACT [] xref: SNOMEDCT_US:125617002 xref: SNOMEDCT_US:417558002 xref: UMLS:C1403299 xref: UMLS:C1403321 xref: UMLS:C2720437 is_a: HP:0009811 ! Abnormality of the elbow is_a: HP:0030310 ! Upper extremity joint dislocation [Term] id: HP:0003043 name: Abnormality of the shoulder def: "An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the shoulder" EXACT layperson [] xref: UMLS:C4025659 is_a: HP:0000765 ! Abnormality of the thorax is_a: HP:0011844 ! Abnormal appendicular skeleton morphology [Term] id: HP:0003044 name: Shoulder flexion contracture def: "Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement." [HPO:probinson] xref: SNOMEDCT_US:202265005 xref: UMLS:C0409336 is_a: HP:0003043 ! Abnormality of the shoulder is_a: HP:0100360 ! Contractures of the joints of the upper limbs [Term] id: HP:0003045 name: Abnormal patella morphology def: "Abnormality of the patella (knee cap)." [HPO:probinson] subset: hposlim_core synonym: "Abnormal kneecap" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the patella" EXACT [] synonym: "Patellar abnormality" EXACT [] xref: UMLS:C4021743 is_a: HP:0002815 ! Abnormality of the knee [Term] id: HP:0003048 name: Radial head subluxation def: "Partial dislocation of the head of the radius." [HPO:curators] synonym: "Radial subluxation" EXACT [] synonym: "Radial-head subluxation" EXACT [] xref: SNOMEDCT_US:417109008 xref: SNOMEDCT_US:95854004 xref: UMLS:C0149977 is_a: HP:0032153 ! Joint subluxation [Term] id: HP:0003049 name: Ulnar deviation of the wrist synonym: "Ulnar deviation of wrists" EXACT [] xref: SNOMEDCT_US:43689004 xref: UMLS:C0231678 is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0003051 name: Enlarged metaphyses alt_id: HP:0005018 def: "Abnormal increase in size of one or more metaphyses." [HPO:probinson] synonym: "Enlarged wide portion of a long bone" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1855544 is_a: HP:0000944 ! Abnormality of the metaphysis [Term] id: HP:0003053 name: Epiphyseal deformities of tubular bones xref: UMLS:C1854786 is_a: HP:0005930 ! Abnormality of epiphysis morphology [Term] id: HP:0003057 name: Tetraamelia def: "Amelia of all four limbs." [HPO:sdoelken] synonym: "Tetra-amelia" EXACT [HPO:sdoelken] xref: MSH:C536498 xref: SNOMEDCT_US:702313004 xref: UMLS:C2931216 is_a: HP:0009827 ! Amelia [Term] id: HP:0003059 name: Abnormality of the radioulnar joints xref: UMLS:C4025658 is_a: HP:0002973 ! Abnormality of the forearm is_a: HP:0005262 ! Abnormality of the synovia [Term] id: HP:0003063 name: Abnormality of the humerus alt_id: HP:0002988 def: "An abnormality of the humerus (i.e., upper arm bone)." [HPO:curators] synonym: "Abnormality of the humeri" EXACT [] xref: UMLS:C4021742 is_a: HP:0001454 ! Abnormality of the upper arm is_a: HP:0040070 ! Abnormal upper limb bone morphology [Term] id: HP:0003065 name: Patellar hypoplasia alt_id: HP:0005020 def: "Underdevelopment of the patella." [HPO:curators] synonym: "Hypoplastic patellae" EXACT [] synonym: "Small kneecap" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Small patella" EXACT [] synonym: "Small patellae" EXACT [] synonym: "Underdeveloped kneecap" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1840068 is_a: HP:0006498 ! Aplasia/Hypoplasia of the patella [Term] id: HP:0003066 name: Limited knee extension synonym: "Limited knee extension" EXACT layperson [] xref: UMLS:C1844690 is_a: HP:0002815 ! Abnormality of the knee [Term] id: HP:0003067 name: Madelung deformity def: "An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna." [HPO:probinson, pmid:12362035] subset: hposlim_core synonym: "Madelung wrist deformity" EXACT [] xref: MSH:C562398 xref: SNOMEDCT_US:4530000 xref: UMLS:C0152441 is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0003068 name: Madelung-like forearm deformities xref: UMLS:C1851419 is_a: HP:0002818 ! Abnormality of the radius [Term] id: HP:0003070 name: Elbow ankylosis xref: SNOMEDCT_US:202307002 xref: UMLS:C0409477 is_a: HP:0009811 ! Abnormality of the elbow is_a: HP:0031013 ! Ankylosis [Term] id: HP:0003071 name: Flattened epiphysis alt_id: HP:0004982 alt_id: HP:0005051 alt_id: HP:0005076 alt_id: HP:0005080 def: "Abnormal flatness (decreased height) of epiphyses." [HPO:probinson] synonym: "Flat end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Flat epiphyses" EXACT [] xref: UMLS:C1857527 is_a: HP:0005930 ! Abnormality of epiphysis morphology [Term] id: HP:0003072 name: Hypercalcemia def: "An abnormally increased calcium concentration in the blood." [HPO:curators] synonym: "High blood calcium levels" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Hypercalcaemia" EXACT [] synonym: "Increased calcium in blood" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D006934 xref: SNOMEDCT_US:166702002 xref: SNOMEDCT_US:66931009 xref: UMLS:C0020437 is_a: HP:0004363 ! Abnormal circulating calcium concentration [Term] id: HP:0003073 name: Hypoalbuminemia def: "Reduction in the concentration of albumin in the blood." [HPO:probinson] synonym: "Hypoalbuminaemia" EXACT [] synonym: "Low albumin" BROAD layperson [] synonym: "Low blood albumin" EXACT layperson [] xref: MSH:D034141 xref: SNOMEDCT_US:119247004 xref: UMLS:C0239981 is_a: HP:0012116 ! Abnormal albumin level [Term] id: HP:0003074 name: Hyperglycemia def: "An increased concentration of glucose in the blood." [HPO:probinson] synonym: "High blood glucose" EXACT [ORCID:0000-0001-6908-9849] synonym: "High blood sugar" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D006943 xref: SNOMEDCT_US:237598005 xref: SNOMEDCT_US:80394007 xref: UMLS:C0020456 is_a: HP:0011015 ! Abnormal blood glucose concentration [Term] id: HP:0003075 name: Hypoproteinemia def: "A decreased concentration of protein in the blood." [HPO:gcarletti] synonym: "Decreased protein levels in blood" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D007019 xref: SNOMEDCT_US:8900005 xref: UMLS:C0020639 is_a: HP:0010876 ! Abnormal circulating protein level [Term] id: HP:0003076 name: Glycosuria alt_id: HP:0003122 def: "An increased concentration of glucose in the urine." [HPO:gcarletti] comment: Glycosuria, the excretion of abnormal amounts of glucose in the urine, generally results in osmotic diuresis. synonym: "Glucose in urine" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Glucosuria" EXACT [] xref: MSH:D006029 xref: SNOMEDCT_US:45154002 xref: UMLS:C0017979 is_a: HP:0011016 ! Abnormality of urine glucose concentration [Term] id: HP:0003077 name: Hyperlipidemia alt_id: HP:0008159 alt_id: HP:0008356 def: "An elevated lipid concentration in the blood." [HPO:probinson] comment: Hyperlipidemia is an elevation of the blood levels of lipids including primarily cholesterol, phospholipids and triglycerides and cholesterol esters. The lipids are transported on lipoproteins some of which are commonly used for clinical measurements, including chylomicrons, very-low density lipoproteins (VLDL), intermediate-density lipoproteins (IDL), low-density lipoproteins, and high-density lipoproteins (HDL). synonym: "Elevated lipids in blood" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D006949 xref: SNOMEDCT_US:55822004 xref: UMLS:C0020473 is_a: HP:0003119 ! Abnormal circulating lipid concentration [Term] id: HP:0003079 name: Defective DNA repair after ultraviolet radiation damage xref: UMLS:C1968564 is_a: HP:0003254 ! Abnormality of DNA repair [Term] id: HP:0003080 name: Hydroxyprolinuria def: "An increased concentration of 4-hydroxy-L-proline the urine." [HPO:gcarletti] synonym: "Elevated urinary hydroxyproline" EXACT layperson [] xref: UMLS:C0948585 is_a: HP:0003355 ! Aminoaciduria is_a: HP:0010907 ! Abnormal circulating proline concentration [Term] id: HP:0003081 name: Increased urinary potassium def: "An increased concentration of potassium(1+) in the urine." [HPO:probinson] synonym: "Hyperkaliuresis" EXACT [] synonym: "Increased urinary K" EXACT HP:0045077 [] synonym: "Increased urinary potassium" EXACT layperson [] xref: UMLS:C1846351 is_a: HP:0012598 ! Abnormal urine potassium concentration [Term] id: HP:0003083 name: Dislocated radial head alt_id: HP:0002975 alt_id: HP:0005673 alt_id: HP:0005836 def: "A dislocation of the head of the radius from its socket in the elbow joint." [HPO:curators] synonym: "Congenital radial head dislocation" EXACT [] synonym: "Dislocated radial heads" RELATED [HPO:skoehler] synonym: "Dislocated radius" EXACT [] synonym: "Dislocation of radial head" EXACT [] synonym: "Dislocation of the radial head" EXACT [] synonym: "Radial dislocation" EXACT [] synonym: "Radial head dislocation" EXACT [] synonym: "Radial head dislocation/subluxation" EXACT [] xref: SNOMEDCT_US:9634000 xref: UMLS:C0265563 is_a: HP:0003042 ! Elbow dislocation is_a: HP:0003995 ! Abnormality of the radial head is_a: HP:0100744 ! Abnormality of the humeroradial joint [Term] id: HP:0003084 name: Fractures of the long bones alt_id: HP:0005847 def: "An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula,humerus, radius, and ulna)." [HPO:curators] synonym: "Increased long bone fracture rate" EXACT [] xref: UMLS:C0240231 is_a: HP:0002757 ! Recurrent fractures is_a: HP:0011314 ! Abnormality of long bone morphology [Term] id: HP:0003085 name: Long fibula def: "Disproportionately long fibulae." [HPO:probinson] subset: hposlim_core synonym: "Disproportionately long fibula" EXACT [] synonym: "Long calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Long fibula" EXACT layperson [] xref: UMLS:C1848109 is_a: HP:0002991 ! Abnormality of fibula morphology [Term] id: HP:0003086 name: Acromesomelia def: "Small hands and feet." [HPO:probinson, pmid:22286749] xref: UMLS:C1864365 is_a: HP:0003027 ! Mesomelia [Term] id: HP:0003088 name: Premature osteoarthritis synonym: "Premature arthritis" EXACT layperson [] synonym: "Premature osteoarthritis" EXACT layperson [] xref: UMLS:C1835121 is_a: HP:0002758 ! Osteoarthritis [Term] id: HP:0003089 name: Hamstring contractures synonym: "Hamstring contractures" EXACT layperson [] xref: SNOMEDCT_US:203074005 xref: UMLS:C0410266 is_a: HP:0005750 ! Contractures of the joints of the lower limbs [Term] id: HP:0003090 name: Hypoplasia of the capital femoral epiphysis alt_id: HP:0003374 alt_id: HP:0008791 alt_id: HP:0008792 def: "Underdevelopment of the proximal epiphysis of the femur." [HPO:probinson] synonym: "Small capital femoral epiphyses" EXACT [] synonym: "Small femoral capital epiphyses" EXACT [] synonym: "Small innermost thighbone end part" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Small proximal femoral epiphyses" EXACT [] synonym: "Underdevelopment of the innermost thighbone end part" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1839254 is_a: HP:0005003 ! Aplasia/Hypoplasia of the capital femoral epiphysis [Term] id: HP:0003091 name: Trophic limb changes def: "Trophic changes occurring in a limb." [HPO:probinson] xref: UMLS:C4025657 is_a: HP:0010834 ! Trophic changes related to pain [Term] id: HP:0003093 name: Limited hip extension alt_id: HP:0008810 def: "Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward." [HPO:probinson] comment: Reduced ability to straighten out the femur. synonym: "Limited hip extension" EXACT layperson [] synonym: "Restricted hip extension" EXACT layperson [] xref: UMLS:C3553368 is_a: HP:0008800 ! Limited hip movement [Term] id: HP:0003095 name: Septic arthritis synonym: "Infected joint" BROAD layperson [ORCID:0000-0001-6908-9849] xref: MSH:D001170 xref: SNOMEDCT_US:372939007 xref: SNOMEDCT_US:396234004 xref: UMLS:C0003869 xref: UMLS:C4280547 is_a: HP:0001369 ! Arthritis created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0003097 name: Short femur alt_id: HP:0009749 def: "An abnormal shortening of the femur." [HPO:probinson] subset: hposlim_core synonym: "Femoral hypoplasia" EXACT [] synonym: "Hypoplasia of the femora" EXACT [] synonym: "Short femurs" EXACT [] synonym: "Short thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:93255008 xref: UMLS:C0345375 is_a: HP:0003026 ! Short long bone is_a: HP:0005613 ! Aplasia/hypoplasia of the femur [Term] id: HP:0003099 name: Fibular overgrowth def: "Relatively increased growth of the fibula compared to that of the tibia." [HPO:probinson, pmid:17259417] synonym: "Overgrowth of calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1864298 is_a: HP:0002991 ! Abnormality of fibula morphology [Term] id: HP:0003100 name: Slender long bone alt_id: HP:0003060 alt_id: HP:0003061 alt_id: HP:0003096 alt_id: HP:0005064 def: "Reduced diameter of a long bone." [HPO:probinson] synonym: "Gracile long bones" EXACT [] synonym: "Long bones slender" EXACT layperson [] synonym: "Slender long bone" EXACT layperson [] synonym: "Slender long bones" RELATED layperson [HPO:skoehler] synonym: "Slender, gracile long tubular bones" EXACT [] synonym: "Thin gracile long bones" RELATED [] synonym: "Thin long bones" EXACT layperson [] synonym: "Thin, gracile long bones" EXACT [] xref: UMLS:C1833144 is_a: HP:0011314 ! Abnormality of long bone morphology [Term] id: HP:0003102 name: Increased carrying angle def: "An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm." [HPO:probinson, pmid:18506557] comment: Anatomically, the carrying angle in human adults is approximately 10 degrees in men and 13 degrees in women. Increasing the carrying angle may lead to elbow instability and pain during exercise or in throwing activities of sports, may reduce function of elbow flexion, predispose to risk of elbow dislocation, and increase evidence of elbow fracture when falling on the outstretched hand and fracture of the distal humeral epiphysis. xref: UMLS:C1855478 is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003103 name: Abnormal cortical bone morphology def: "An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones." [HPO:sdoelken] synonym: "Abnormal compact bone morphology" EXACT [] synonym: "Abnormality of cortical bone" EXACT [] xref: UMLS:C4021741 is_a: HP:0003330 ! Abnormal bone structure [Term] id: HP:0003105 name: Protuberances at ends of long bones def: "The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones." [HPO:probinson] synonym: "Protuberances at ends of long bones" EXACT layperson [] xref: UMLS:C1851418 is_a: HP:0011314 ! Abnormality of long bone morphology [Term] id: HP:0003106 name: Subperiosteal bone resorption def: "Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone." [PMID:24849102] synonym: "Subperiosteal erosions" EXACT [] xref: UMLS:C1848541 is_a: HP:0002813 ! Abnormality of limb bone morphology [Term] id: HP:0003107 name: Abnormal circulating cholesterol concentration alt_id: HP:0003464 def: "Any deviation from the normal concentration of cholesterol in the blood circulation." [] synonym: "Abnormal cholesterol homeostasis" EXACT [] synonym: "Abnormality of cholesterol metabolism" EXACT layperson [] xref: UMLS:C4025656 is_a: HP:0003119 ! Abnormal circulating lipid concentration created_by: peter creation_date: 2008-03-17T01:02:00Z [Term] id: HP:0003108 name: Hyperglycinuria alt_id: HP:0002931 def: "An increased concentration of glycine in the urine." [HPO:gcarletti, pmid:18901181, pmid:20240447] comment: Normal urinary glycine total (free and combined form) excretion is around 450 mg per 24 hours. synonym: "Glycinuria" EXACT [] synonym: "High urine glycine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:C563009 xref: SNOMEDCT_US:236477004 xref: UMLS:C0341706 xref: UMLS:C0543541 is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0003109 name: Hyperphosphaturia alt_id: HP:0003266 def: "An increased excretion of phosphates in the urine." [HPO:curators] synonym: "High urine phosphate levels" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Phosphaturia" EXACT [] xref: SNOMEDCT_US:22450000 xref: UMLS:C0268079 xref: UMLS:C0948023 is_a: HP:0012599 ! Abnormal urine phosphate concentration [Term] id: HP:0003110 name: Abnormality of urine homeostasis alt_id: HP:0011865 alt_id: HP:0011866 def: "An abnormality of the composition of urine or the levels of its components." [HPO:probinson] synonym: "Pee issues" EXACT layperson [] synonym: "Urine issues" EXACT layperson [] xref: UMLS:C4025655 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis is_a: HP:0011277 ! Abnormality of the urinary system physiology [Term] id: HP:0003111 name: Abnormal blood ion concentration alt_id: HP:0003253 def: "Abnormality of the homeostasis (concentration) of a monoatomic ion." [HPO:probinson] synonym: "Abnormality of ion homeostasis" EXACT [] synonym: "Electrolyte disorders" EXACT layperson [] xref: SNOMEDCT_US:237840007 xref: UMLS:C1704431 xref: UMLS:C4025654 is_a: HP:0032180 ! Abnormal circulating metabolite concentration [Term] id: HP:0003112 name: Abnormality of serum amino acid level def: "The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation." [HPO:curators] synonym: "Abnormality of serum amino acid levels" EXACT layperson [] xref: UMLS:C4025653 is_a: HP:0004354 ! Abnormal circulating carboxylic acid concentration [Term] id: HP:0003113 name: Hypochloremia def: "An abnormally decreased chloride concentration in the blood." [HPO:probinson] synonym: "Low blood chloride levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:10399008 xref: UMLS:C0085680 xref: UMLS:C0595901 is_a: HP:0011422 ! Abnormal blood chloride concentration [Term] id: HP:0003114 name: obsolete Abnormal cardiological findings is_obsolete: true replaced_by: HP:0001626 [Term] id: HP:0003115 name: Abnormal EKG def: "Abnormal rhythm of the heart." [] synonym: "Abnormal ECG" EXACT layperson [] synonym: "Abnormal EKG" EXACT layperson [] synonym: "Abnormal electrocardiogram" EXACT [] synonym: "EKG abnormality" EXACT HP:0045077 [] xref: SNOMEDCT_US:102594003 xref: UMLS:C0522055 is_a: HP:0030956 ! Abnormality of cardiovascular system electrophysiology is_a: HP:0500015 ! Abnormal cardiac test [Term] id: HP:0003116 name: Abnormal echocardiogram def: "An abnormality detectable by sonography of the heart (echocardiography)." [HPO:probinson] comment: Note that while structural heart anomalies can cause abnormal echocardiograpy findings, structural abnormalities are detectable by multiple imaging modalities and should be coded using terms from the hierarchy under 'Abnormality of cardiac morphology' (HP:0001627). synonym: "Abnormal echocardiogram" EXACT layperson [] synonym: "Abnormal echocardiography" EXACT layperson [] xref: SNOMEDCT_US:169241000 xref: UMLS:C0476369 is_a: HP:0011025 ! Abnormal cardiovascular system physiology is_a: HP:0500015 ! Abnormal cardiac test [Term] id: HP:0003117 name: Abnormal circulating hormone level def: "An abnormal concentration of a hormone in the blood." [HPO:probinson] synonym: "Abnormality of circulating hormone level" EXACT layperson [] xref: UMLS:C4025652 is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0003118 name: Increased circulating cortisol level alt_id: HP:0000850 alt_id: HP:0001578 alt_id: HP:0004316 def: "Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features." [DDD:spark] synonym: "Cushing syndrome" EXACT [] synonym: "Hypercortisolism" EXACT [HPO:skoehler] synonym: "Increased circulating cortisol level" EXACT layperson [] synonym: "Increased cortisol production" EXACT [] xref: MSH:D000308 xref: SNOMEDCT_US:237735008 xref: SNOMEDCT_US:275437005 xref: SNOMEDCT_US:47270006 xref: UMLS:C0001622 xref: UMLS:C0342443 xref: UMLS:C4025651 is_a: HP:0002717 ! Adrenal overactivity is_a: HP:0011731 ! Abnormality of circulating cortisol level [Term] id: HP:0003119 name: Abnormal circulating lipid concentration alt_id: HP:0003611 def: "An abnormality in the of lipid metabolism." [HPO:probinson] comment: According to CHEBI:18059 'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids. synonym: "Dyslipidemia" RELATED [] xref: MSH:D050171 xref: SNOMEDCT_US:370992007 xref: UMLS:C0242339 xref: UMLS:C4025650 is_a: HP:0032180 ! Abnormal circulating metabolite concentration [Term] id: HP:0003121 name: Limb joint contracture alt_id: HP:0005631 alt_id: HP:0005839 def: "A contrqacture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs." [HPO:probinson] synonym: "Limb contractures" EXACT layperson [] xref: UMLS:C1969879 is_a: HP:0001371 ! Flexion contracture [Term] id: HP:0003124 name: Hypercholesterolemia alt_id: HP:0008154 alt_id: HP:0008173 alt_id: HP:0008359 def: "An increased concentration of cholesterol in the blood." [HPO:gcarletti] synonym: "Elevated serum cholesterol" EXACT layperson [] synonym: "Elevated total cholesterol" EXACT layperson [] synonym: "High cholesterol" BROAD layperson [] synonym: "Increased total cholesterol" EXACT layperson [] xref: MSH:D006937 xref: SNOMEDCT_US:13644009 xref: SNOMEDCT_US:166830008 xref: UMLS:C0020443 xref: UMLS:C0595929 is_a: HP:0003107 ! Abnormal circulating cholesterol concentration [Term] id: HP:0003125 name: Reduced factor VIII activity alt_id: HP:0008349 alt_id: HP:0008355 def: "Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X." [HPO:probinson] synonym: "Factor VIII deficiency" RELATED [] xref: MSH:D006467 xref: SNOMEDCT_US:234440005 xref: UMLS:C3494187 xref: UMLS:C4025649 is_a: HP:0030976 ! Abnormal factor VIII activity [Term] id: HP:0003126 name: Low-molecular-weight proteinuria def: "Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD)." [pmid:95574] synonym: "Tubular proteinuria" EXACT [] xref: UMLS:C1839606 is_a: HP:0000093 ! Proteinuria [Term] id: HP:0003127 name: Hypocalciuria def: "An abnormally decreased calcium concentration in the urine." [HPO:probinson] synonym: "Low urine calcium levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:86353007 xref: UMLS:C0020599 is_a: HP:0011280 ! Abnormality of urine calcium concentration [Term] id: HP:0003128 name: Lactic acidosis alt_id: HP:0003255 alt_id: HP:0005960 def: "An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids." [HPO:probinson] comment: Note that the term acidemia is used to describe the state of low pH in the blood, whereas acidosis is used to describe the processes that lead to acidemia. In medical jargon, however, the two terms are used interchangeably. synonym: "Hyperlacticacidemia" EXACT [] synonym: "Increased lactate in body" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Lactic acidemia" EXACT [] synonym: "Lacticacidemia" EXACT [] synonym: "Lacticacidosis" EXACT [] xref: MSH:D000140 xref: SNOMEDCT_US:190882007 xref: SNOMEDCT_US:91273001 xref: UMLS:C0001125 xref: UMLS:C0347959 is_a: HP:0001941 ! Acidosis [Term] id: HP:0003130 name: Abnormal peripheral myelination alt_id: HP:0003408 def: "An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense." [DDD:fmunitoni, HPO:jbaets] comment: This finding may be observed upon biopsy of the sural nerve. Myelination, i.e., the presence of a segmented lipid-rich sheath (myelin), enables faster and more energetically efficient conduction of electrical impulses. The sheath is formed by the cell membranes of Schwann cells in the peripheral nervous system (GO:0022011). xref: UMLS:C4025648 is_a: HP:0000759 ! Abnormal peripheral nervous system morphology is_a: HP:0012447 ! Abnormal myelination [Term] id: HP:0003131 name: Cystinuria def: "An increased concentration of cystine in the urine." [HPO:gcarletti] comment: Cystine is a sulfur-containing amino acid. synonym: "High urine cystine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D003555 xref: SNOMEDCT_US:85020001 xref: UMLS:C0010691 is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0003133 name: Abnormality of the spinocerebellar tracts def: "An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract." [HPO:probinson] xref: UMLS:C4025647 is_a: HP:0002143 ! Abnormality of the spinal cord [Term] id: HP:0003134 name: Abnormality of peripheral nerve conduction alt_id: HP:0006832 alt_id: HP:0007186 def: "An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS)." [HPO:probinson] comment: A nerve conduction study (NCS) is commonly conducted together with electromyography in order to evaluate muscle disorders. For the NCS, dermal electrodes are placed at intervals over the nerve to be examined, and a low-intensity current is introducted to generate action potentials. The velocity of the action potential is related to the diameter of the nerve fiber and the presence of a myelin sheath. Diseases of the myelin sheath characteristically reduce the nerve conduction velocity (NCV). The amplitude of the response is also measured. synonym: "Abnormal peripheral nerve transmission" RELATED [] synonym: "Sensory and motor nerve conduction abnormalities" EXACT [] xref: UMLS:C4020690 is_a: HP:0030177 ! Abnormality of peripheral nervous system electrophysiology is_a: HP:0045010 ! Abnormality of peripheral nerves [Term] id: HP:0003137 name: Prolinuria def: "An increased concentration of proline in the urine." [HPO:probinson] comment: Normal urinary proline total (free and combined form) excretion is around 40 mg per 24 hours. xref: SNOMEDCT_US:53124003 xref: UMLS:C0268534 is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0003138 name: Increased blood urea nitrogen def: "An increased amount of nitrogen in the form of urea in the blood." [HPO:gcarletti] synonym: "Increased blood urea nitrogen" EXACT layperson [] synonym: "Increased BUN" EXACT HP:0045077 [] xref: UMLS:C0151539 is_a: HP:0002157 ! Azotemia is_a: HP:0031970 ! Abnormal blood urea nitrogen concentration [Term] id: HP:0003139 name: Panhypogammaglobulinemia def: "A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes." [PMID:23726535] synonym: "Panypogammaglobulinemia" EXACT [] xref: UMLS:C1328587 is_a: HP:0004313 ! Decreased antibody level in blood [Term] id: HP:0003140 name: T-wave inversion in the right precordial leads xref: UMLS:C4025646 is_a: HP:0010872 ! T-wave inversion [Term] id: HP:0003141 name: Increased LDL cholesterol concentration alt_id: HP:0008343 def: "An elevated concentration of low-density lipoprotein cholesterol in the blood." [HPO:probinson] synonym: "Hyperbetalipoproteinemia" EXACT [] synonym: "Increased beta-lipoproteins" EXACT [] synonym: "Increased circulating LDL level" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased circulating low-density lipoprotein cholesterol" EXACT [] synonym: "Increased circulating low-density lipoprotein levels" EXACT [] synonym: "Increased LDL cholesterol" EXACT layperson [] synonym: "Increased LDLc concentration" EXACT HP:0045077 [] synonym: "Increased plasma LDL levels" EXACT HP:0045077 [] xref: MSH:D006938 xref: SNOMEDCT_US:190773008 xref: SNOMEDCT_US:398036000 xref: UMLS:C0020445 xref: UMLS:C0549399 is_a: HP:0010980 ! Hyperlipoproteinemia is_a: HP:0031886 ! Abnormal LDL cholesterol concentration [Term] id: HP:0003142 name: Excessive purine production xref: UMLS:C4025645 is_a: HP:0012337 ! Abnormal homeostasis [Term] id: HP:0003144 name: Increased serum serotonin def: "A increased concentration of serotonin in the blood." [HPO:probinson] synonym: "Increased serum serotonin" EXACT layperson [] xref: UMLS:C0877243 is_a: HP:0003117 ! Abnormal circulating hormone level [Term] id: HP:0003145 name: Decreased adenosylcobalamin def: "Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12." [HPO:probinson] synonym: "Decreased ADOCBL" EXACT [] xref: UMLS:C1848556 is_a: HP:0040126 ! Abnormal vitamin B12 level [Term] id: HP:0003146 name: Hypocholesterolemia def: "An decreased concentration of cholesterol in the blood." [HPO:gcarletti] synonym: "Decreased circulating cholesterol level" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:61336008 xref: UMLS:C0151718 is_a: HP:0003107 ! Abnormal circulating cholesterol concentration [Term] id: HP:0003148 name: Elevated serum acid phosphatase comment: Acid phosphatase can free attached phosphate groups from other molecules. It is a lysosomal enzyme. synonym: "Acid phosphatase elevated" EXACT layperson [] synonym: "Elevated serum acid phosphatase" EXACT layperson [] xref: UMLS:C1839866 is_a: HP:0004356 ! Abnormality of lysosomal metabolism [Term] id: HP:0003149 name: Hyperuricosuria def: "An abnormally high level of uric acid in the urine." [HPO:probinson] synonym: "High urine uric acid level" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C0948643 is_a: HP:0003110 ! Abnormality of urine homeostasis is_a: HP:0004364 ! Abnormal circulating nitrogen compound concentration [Term] id: HP:0003150 name: Glutaric aciduria alt_id: HP:0003490 def: "An increased concentration of glutaric acid in the urine." [HPO:gcarletti] synonym: "Glutarate aciduria" EXACT [https://orcid.org/0000-0001-9969-8610] synonym: "Glutaricaciduria" EXACT [] synonym: "Increased glutarate level in urine" EXACT [CHEBI:24329, https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:28987007 xref: UMLS:C0268594 is_a: HP:0003215 ! Dicarboxylic aciduria [Term] id: HP:0003152 name: Increased serum 1,25-dihydroxyvitamin D3 synonym: "Increased serum calcitriol" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C1833331 is_a: HP:0003117 ! Abnormal circulating hormone level [Term] id: HP:0003153 name: Cystathioninuria def: "An elevated urinary concentration of cystathionine." [HPO:probinson] comment: Cystathionine can be directly interconverted to cysteine. Normal cystathione urinary values are under 150 micromole per gram creatinine. synonym: "High urine cystathionine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:13003007 xref: UMLS:C0220993 is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0003154 name: Increased circulating ACTH level def: "An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood." [HPO:probinson] synonym: "High blood corticotropin levels" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased circulating ACTH level" EXACT layperson [] synonym: "Increased plasma ACTH" EXACT [] xref: UMLS:C4021740 is_a: HP:0011043 ! Abnormality of circulating adrenocorticotropin level [Term] id: HP:0003155 name: Elevated alkaline phosphatase alt_id: HP:0002911 alt_id: HP:0003636 alt_id: HP:0008296 def: "Abnormally increased serum levels of alkaline phosphatase activity." [HPO:probinson] synonym: "Elevated alkaline phosphatase" EXACT layperson [] synonym: "Elevated ALP" EXACT HP:0045077 [] synonym: "Greatly elevated alkaline phosphatase" EXACT layperson [] synonym: "High serum alkaline phosphatase" EXACT layperson [] synonym: "Hyperphosphatasemia" EXACT [] synonym: "Hyperphosphatasia" EXACT [HPO:probinson] synonym: "Increased alkaline phosphatase" EXACT layperson [] synonym: "Increased serum alkaline phosphatase" EXACT layperson [] xref: UMLS:C0750857 is_a: HP:0004379 ! Abnormality of alkaline phosphatase activity [Term] id: HP:0003158 name: Hyposthenuria def: "An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine." [HPO:probinson] comment: Hyposthenuria may occur with impaired renal concentrating power or upon abnormally low hormonal stimulation, as in diabetes insipidus. synonym: "Reduced urinary osmolality" EXACT [] xref: SNOMEDCT_US:76023003 xref: UMLS:C0232831 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003159 name: Hyperoxaluria def: "Increased excretion of oxalates in the urine." [HPO:probinson] synonym: "High urine oxalate levels" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased level of oxalate in urine" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-9969-8610, PMID:11135054] xref: MSH:D006959 xref: SNOMEDCT_US:367621000119107 xref: UMLS:C0020500 is_a: HP:0001992 ! Organic aciduria [Term] id: HP:0003160 name: Abnormal isoelectric focusing of serum transferrin def: "Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded." [HPO:probinson, pmid:22516080] comment: Human serum transferrin has two N-glycosylation sites, which are normally both fully occupied by disialylated biantennary glycans to generate tetrasialotransferrin. synonym: "Abnormal isoelectric focusing of serum transferrin" EXACT [] synonym: "Abnormal transferrin isoelectric focusing" EXACT [] xref: UMLS:C2749688 is_a: HP:0012347 ! Abnormal protein N-linked glycosylation [Term] id: HP:0003161 name: 4-Hydroxyphenylpyruvic aciduria def: "Increased concentration of pyruvic acid in the urine." [HPO:probinson] synonym: "Hydroxyphenylpyruvic aciduria" EXACT [] xref: UMLS:C1848678 is_a: HP:0040156 ! Elevated urinary carboxylic acid [Term] id: HP:0003162 name: Fasting hypoglycemia synonym: "Low blood sugar when fasting" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D007003 xref: SNOMEDCT_US:6974005 xref: UMLS:C0271708 is_a: HP:0003117 ! Abnormal circulating hormone level [Term] id: HP:0003163 name: Elevated urinary delta-aminolevulinic acid def: "An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine." [HPO:probinson] comment: Delta-aminolevulinic acid synthesis is a rate-controlling step in heme synthesis. synonym: "Elevated urinary delta-aminolevulinic acid" EXACT layperson [] xref: UMLS:C1848702 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003164 name: Hypothalamic gonadotropin-releasing hormone deficiency synonym: "Hypothalamic GNRH deficiency" EXACT [] xref: UMLS:C4025644 is_a: HP:0012285 ! Abnormal hypothalamus physiology is_a: HP:0500012 ! Abnormality of gonadotropin-releasing hormone level [Term] id: HP:0003165 name: Elevated circulating parathyroid hormone level def: "An abnormal increased concentration of parathyroid hormone." [HPO:probinson] synonym: "Elevated circulating PTH level" EXACT [] synonym: "Elevated serum parathyroid hormone" EXACT [] synonym: "Elevated serum parathyroid hormone level" EXACT [] synonym: "Elevated serum pth" EXACT [] synonym: "Increased serum parathyroid hormone" EXACT [] xref: UMLS:C0857973 is_a: HP:0100530 ! Abnormal calcium-phosphate regulating hormone level [Term] id: HP:0003166 name: Increased urinary taurine def: "Increased concentration of taurine in the urine." [HPO:probinson] synonym: "Increased urinary taurine" EXACT layperson [] xref: UMLS:C3806447 is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0003167 name: Carnosinuria def: "An increased concentration of carnosine in the urine." [HPO:probinson] comment: Carnosine is the N-(beta-alanyl) derivative of L-histidine. synonym: "High urine carnosine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:410051001 xref: UMLS:C3495558 is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0003168 name: Dibasicaminoaciduria xref: UMLS:C4025643 is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0003170 name: Abnormality of the acetabulum def: "An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the hipbone socket" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Acetabular abnormality" EXACT [] xref: UMLS:C4021739 is_a: HP:0001384 ! Abnormality of the hip joint [Term] id: HP:0003172 name: Abnormality of the pubic bone def: "An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (publis, ilium, ischium) of the hip bone." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the pubic bone" EXACT layperson [] synonym: "Abnormality of the pubic bones" EXACT layperson [] synonym: "Abnormality of the pubis" EXACT layperson [] xref: UMLS:C4021738 is_a: HP:0003272 ! Abnormality of the hip bone [Term] id: HP:0003173 name: Hypoplastic pubic bone def: "Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone." [HPO:probinson] synonym: "Hypoplastic pubic bones" EXACT [] synonym: "Hypoplastic pubis" EXACT [] xref: UMLS:C1865030 is_a: HP:0009104 ! Aplasia/Hypoplasia of the pubic bone [Term] id: HP:0003174 name: Abnormality of the ischium def: "An anomaly of the ischium, which forms the lower and back part of the hip bone." [HPO:probinson] comment: The ischium, together with the ilium and the pubis, forms the hip bone (os coxae). synonym: "Abnormality of the ischial bones" EXACT [] synonym: "Anomaly of the ischium" EXACT [] xref: SNOMEDCT_US:93008005 xref: UMLS:C0685661 is_a: HP:0003272 ! Abnormality of the hip bone [Term] id: HP:0003175 name: Hypoplastic ischia def: "Underdevelopment of the ischium, which forms the lower and back part of the hip bone." [HPO:probinson] subset: hposlim_core synonym: "Hypoplastic ischial bones" EXACT [] synonym: "Hypoplastic ischii" EXACT [] synonym: "Hypoplastic ischium" EXACT [] xref: UMLS:C1859447 is_a: HP:0003174 ! Abnormality of the ischium [Term] id: HP:0003177 name: Squared iliac bones def: "A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance." [HPO:probinson] synonym: "Square iliac bones" EXACT [] synonym: "Squaring of iliac bones" EXACT [] xref: UMLS:C1838186 is_a: HP:0002867 ! Abnormality of the ilium [Term] id: HP:0003179 name: Protrusio acetabuli def: "Intrapelvic bulging of the medial acetabular wall." [HPO:probinson] comment: Protrusion of the acetabulum, which is the socket that together with the head of the femur forms the hip joint. The protrusion is the result of increased depth of the socket and results in medial displacement of the femoral head. subset: hposlim_core synonym: "Protrusio acetabulae" EXACT [] xref: SNOMEDCT_US:59606006 xref: UMLS:C0409495 is_a: HP:0003170 ! Abnormality of the acetabulum [Term] id: HP:0003180 name: Flat acetabular roof alt_id: HP:0003171 alt_id: HP:0008832 alt_id: HP:0008834 def: "Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does." [HPO:probinson] subset: hposlim_core synonym: "Flat acetabular roofs" EXACT [] synonym: "Flattened acetabular roof" EXACT [] synonym: "Horizontal acetabulae" EXACT [] synonym: "Horizontal acetabular roof" EXACT [] synonym: "Horizontal acetabular roofs" EXACT [] xref: UMLS:C1837485 is_a: HP:0003170 ! Abnormality of the acetabulum [Term] id: HP:0003182 name: Shallow acetabular fossae synonym: "Shallow acetabula" EXACT [] synonym: "Shallow acetabulae" EXACT [] synonym: "Shallow acetabular fossa" EXACT [] synonym: "Shallow acetabulum" EXACT [] xref: UMLS:C1854910 xref: UMLS:C1860796 is_a: HP:0003170 ! Abnormality of the acetabulum [Term] id: HP:0003183 name: Wide pubic symphysis def: "Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones." [HPO:probinson] subset: hposlim_core synonym: "Wide symphysis of pubis" EXACT [] xref: UMLS:C1857190 is_a: HP:0003172 ! Abnormality of the pubic bone [Term] id: HP:0003184 name: Decreased hip abduction def: "Reduced ability to move the femur outward to the side." [HPO:probinson] synonym: "Limited hip abduction" EXACT [] xref: UMLS:C1836589 is_a: HP:0008800 ! Limited hip movement [Term] id: HP:0003185 name: Short sacroiliac notch alt_id: HP:0008815 def: "The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch." [HPO:probinson] synonym: "Shortened sacroiliac notches" EXACT [] synonym: "Small sacroiliac notch" EXACT [] xref: UMLS:C1866689 is_a: HP:0030266 ! Abnormality of the sacroiliac notch [Term] id: HP:0003186 name: Inverted nipples def: "The presence of nipples that instead of pointing outward are retracted inwards." [HPO:sdoelken] synonym: "Invaginated nipples" EXACT [HPO:curators] synonym: "Inverted nipples" EXACT layperson [] xref: SNOMEDCT_US:82231009 xref: UMLS:C0269269 is_a: HP:0004404 ! Abnormal nipple morphology [Term] id: HP:0003187 name: Breast hypoplasia alt_id: HP:0000784 def: "Underdevelopment of the breast." [HPO:probinson] synonym: "Underdeveloped breasts" EXACT layperson [] xref: SNOMEDCT_US:8915006 xref: UMLS:C0266013 is_a: HP:0010311 ! Aplasia/Hypoplasia of the breasts [Term] id: HP:0003189 name: Long nose alt_id: HP:0005283 alt_id: HP:0200142 def: "Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base." [pmid:19152422] synonym: "Elongated nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased height of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased length of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased nasal height" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased nasal length" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Long nose" EXACT layperson [] synonym: "Nasal elongation" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1839798 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0003191 name: Cleft ala nasi alt_id: HP:0004412 def: "The presence of a notch in the margin of the ala nasi." [HPO:probinson, pmid:19152422] comment: The alae nasi are the lateral portions of the nose or the wings of the nostrils, which partly encircle the nostrils (nares). They are usually about the width of the columella, but vary greatly depending on the shape of the nostril. Note that individuals may be described as having a cleft ala nasi, but have a severely Underdeveloped ala nasi. In an underdeveloped ala the continuity of the tissue encircling the nostril is undisturbed while in a cleft it is disrupted. The term coloboma has been replaced because a coloboma is a remnant of a physiologically occurring discontinuity of tissue; the alae nasi do not have such a discontinuity. synonym: "Ala nasi, cleft" EXACT [] synonym: "Alar clefts" EXACT [] synonym: "Cleft nasal alae" EXACT [ORCID:0000-0001-5889-4463] synonym: "Cleft nostril" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Nostril coloboma" RELATED [] synonym: "Notched nasal alae" EXACT [] xref: UMLS:C1844537 is_a: HP:0000429 ! Abnormality of the nasal alae [Term] id: HP:0003193 name: Allergic rhinitis def: "It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea." [PMID:11449200] synonym: "Hay fever" EXACT layperson [] synonym: "Hayfever" EXACT layperson [] synonym: "Nasal allergies" RELATED layperson [ORCID:0000-0001-5889-4463] xref: MSH:D065631 xref: SNOMEDCT_US:61582004 xref: UMLS:C0847614 xref: UMLS:C2607914 is_a: HP:0012384 ! Rhinitis is_a: HP:0012393 ! Allergy [Term] id: HP:0003194 name: Short nasal bridge synonym: "Decreased length of bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased length of nasal bridge" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Short bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Short nasal bridge" EXACT layperson [] xref: UMLS:C1854689 is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0003196 name: Short nose alt_id: HP:0000440 alt_id: HP:0000449 alt_id: HP:0000450 alt_id: HP:0003192 alt_id: HP:0003195 alt_id: HP:0005270 alt_id: HP:0200092 def: "Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip." [HPO:probinson, pmid:19152422] comment: Note: a small nose has both decreased height and a decreased width. These should be coded separately. subset: hposlim_core synonym: "Decreased length of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Hypoplastic nose" EXACT [] synonym: "Nasal hypoplasia" EXACT [] synonym: "Short nose" EXACT layperson [] synonym: "Shortened nose" EXACT layperson [HPO:skoehler] synonym: "Small nose" RELATED layperson [] xref: SNOMEDCT_US:249310005 xref: UMLS:C0426414 xref: UMLS:C1854114 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0003198 name: Myopathy alt_id: HP:0003569 alt_id: HP:0003705 alt_id: HP:0003742 alt_id: HP:0003802 def: "A disorder of muscle unrelated to impairment of innervation or neuromuscular junction." [HPO:probinson] comment: The diagnosis of myopathy is often confirmed on the basis of myopathic changes in muscle biopsy. synonym: "Muscle tissue disease" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Myopathic changes" EXACT [] xref: MSH:D009135 xref: SNOMEDCT_US:129565002 xref: UMLS:C0026848 is_a: HP:0011805 ! Abnormal muscle morphology [Term] id: HP:0003199 name: Decreased muscle mass alt_id: HP:0003732 synonym: "Decreased muscle mass" EXACT layperson [] synonym: "Underdeveloped muscles" EXACT layperson [] xref: UMLS:C1837108 is_a: HP:0011805 ! Abnormal muscle morphology [Term] id: HP:0003200 name: Ragged-red muscle fibers alt_id: HP:0009076 def: "An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm." [HPO:probinson, pmid:12075011, pmid:16537564] comment: This finding is demonstrated by muscle biopsy. Note that additionally, muscle fibers with mitochondrial proliferation stain darkly for succinic dehydrogenase (SDH). synonym: "Mitochondrial proliferation in muscle tissue" EXACT [] synonym: "Ragged red muscle fibers" EXACT [] synonym: "Ragged-red fibers" EXACT [] xref: UMLS:C3275417 is_a: HP:0004303 ! Abnormal muscle fiber morphology [Term] id: HP:0003201 name: Rhabdomyolysis def: "Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream." [HPO:probinson] synonym: "Breakdown of skeletal muscle" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:D012206 xref: SNOMEDCT_US:240131006 xref: SNOMEDCT_US:89010004 xref: UMLS:C0035410 is_a: HP:0011805 ! Abnormal muscle morphology [Term] id: HP:0003202 name: Skeletal muscle atrophy alt_id: HP:0001299 alt_id: HP:0003545 alt_id: HP:0003671 alt_id: HP:0003702 alt_id: HP:0003746 alt_id: HP:0006995 alt_id: HP:0007171 alt_id: HP:0007356 alt_id: HP:0009010 alt_id: HP:0009048 alt_id: HP:0100868 def: "The presence of skeletal muscular atrophy (which is also known as amyotrophy)." [HPO:probinson] synonym: "Amyotrophy" EXACT [] synonym: "Amyotrophy involving the extremities" EXACT [] synonym: "Muscle atrophy" EXACT [] synonym: "Muscle atrophy, neurogenic" EXACT [] synonym: "Muscle degeneration" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Muscle hypotrophy" EXACT [] synonym: "Muscle wasting" EXACT layperson [] synonym: "Muscular atrophy" EXACT [] synonym: "Neurogenic muscle atrophy" EXACT [] synonym: "Neurogenic muscle atrophy, especially in the lower limbs" EXACT [] synonym: "Neurogenic muscular atrophy" EXACT [] xref: MSH:D009133 xref: SNOMEDCT_US:74035001 xref: UMLS:C0234958 xref: UMLS:C0270948 xref: UMLS:C0541794 xref: UMLS:C1843479 is_a: HP:0030236 ! Abnormality of muscle size is_a: HP:0040290 ! Abnormality of skeletal muscles [Term] id: HP:0003203 name: Impaired oxidative burst def: "In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria." [HPO:probinson] comment: The NBT test measures the ability of neutrophils to convert nitroblue tetrazolium (NBT), to a deep blue color. This test can be abnormal in chronic granulomatous disease. synonym: "Negative NBT reduction test" EXACT [] synonym: "Negative nitroblue tetrazolium reduction test" EXACT [] xref: UMLS:C4280805 is_a: HP:0011993 ! Impaired neutrophil bactericidal activity [Term] id: HP:0003204 name: Intracellular accumulation of autofluorescent lipopigment storage material def: "The intracellular accumulation of autofluorescent storage material." [HPO:probinson, pmid:16455164] comment: Accumulation of intracellular autofluorescent material or aging pigment has been characterized as a normal aging event. Lipofuscin (from the Greek word for fat and the Latin word for dark), refers to intracellular autofluorescent material that accumulates in aging cells with a excitation wavelength between 320 and 480 nm and an emission wavelength between 460 and 630 nm. Lpofuscin consists of a mixture of oxidized proteins and lipids, carbohydrates and trace amount of metals. Ceroid iss a lipofuscin-like lipopigment that arises from pathological conditions such as disease, malnutrition, and cell stress. Subunit c of mitochondrial ATP synthase makes up approximately 40% of this lipopigment/ceroid accumulation. xref: UMLS:C4025642 is_a: HP:0011017 ! Abnormal cellular physiology [Term] id: HP:0003205 name: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material def: "An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern." [HPO:probinson] synonym: "'curvilinear profiles' ultrastructurally" EXACT [] synonym: "'Curvilinear profiles' ultrastructurally in cells" EXACT [] synonym: "Curvilinear profiles ultrastructurally" EXACT [] synonym: "Intracellular curvilinear profiles on ultrastructural analysis" EXACT [] xref: UMLS:C1836852 is_a: HP:0003204 ! Intracellular accumulation of autofluorescent lipopigment storage material [Term] id: HP:0003206 name: Decreased activity of NADPH oxidase xref: UMLS:C1844394 is_a: HP:0004358 ! Abnormality of superoxide metabolism [Term] id: HP:0003207 name: Arterial calcification alt_id: HP:0012455 def: "Pathological deposition of calcium salts in one or more arteries." [HPO:probinson, pmid:18519861] comment: Most individuals aged over 60 years have progressively enlarging deposits of calcium mineral in their major arteries. This vascular calcification reduces aortic and arterial elastance, which impairs cardiovascular hemodynamics, resulting in substantial morbidity and mortality in the form of hypertension, aortic stenosis, cardiac hypertrophy, myocardial and lower-limb ischemia, congestive heart failure, and compromised structural integrity.The severity and extent of mineralization reflect atherosclerotic plaque burden and strongly and independently predict cardiovascular morbidity and mortality. (From PMID:18519861). xref: UMLS:C1168153 is_a: HP:0004934 ! Vascular calcification is_a: HP:0011004 ! Abnormal systemic arterial morphology created_by: peter creation_date: 2008-03-26T04:05:00Z [Term] id: HP:0003208 name: Fingerprint intracellular accumulation of autofluorescent lipopigment storage material def: "An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern." [HPO:probinson] synonym: "'Fingerprint profiles' ultrastructurally in cells" EXACT [] synonym: "Fingerprint profiles ultrastructurally" EXACT [] xref: UMLS:C1836851 is_a: HP:0003204 ! Intracellular accumulation of autofluorescent lipopigment storage material [Term] id: HP:0003209 name: Decreased pyruvate carboxylase activity def: "A decreased rate of pyruvate carboxylase activity." [HPO:probinson] comment: Pyruvate carboxylase (EC 6.4.1.1) is a nuclear-encoded mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate, a precursor for the citric acid cycle. xref: UMLS:C4025641 is_a: HP:0000816 ! Abnormality of Krebs cycle metabolism [Term] id: HP:0003210 name: Decreased methylmalonyl-CoA mutase activity def: "An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity." [HPO:probinson] comment: The product of the enzyme, succinyl-CoA, is a key molecule of the TCA (Krebs) cycle. The substrate of the enzyme, methylmalonyl-CoA, is primarily derived from propionyl-CoA, a substance formed from the catabolism of isoleucine, valine, threonine, methionine, thymine, uracil, cholesterol, or odd-chain fatty acids. synonym: "Decreased methylmalonyl CoA mutase activity" EXACT [] xref: UMLS:C1848579 is_a: HP:0000816 ! Abnormality of Krebs cycle metabolism [Term] id: HP:0003212 name: Increased circulating total IgE level alt_id: HP:0005382 alt_id: HP:0005418 alt_id: HP:0005433 def: "An abnormally increased overall level of immunoglobulin E in blood." [HPO:probinson] synonym: "Elevated immunoglobulin E" EXACT [] synonym: "Elevated serum IgE" EXACT [] synonym: "High immunoglobulin E" EXACT [] xref: UMLS:C0236175 is_a: HP:0010702 ! Increased antibody level in blood is_a: HP:0410241 ! Abnormal IgE level [Term] id: HP:0003213 name: Deficient excision of UV-induced pyrimidine dimers in DNA xref: UMLS:C4025640 is_a: HP:0003254 ! Abnormality of DNA repair [Term] id: HP:0003214 name: Prolonged G2 phase of cell cycle xref: UMLS:C4025639 is_a: HP:0011018 ! Abnormality of the cell cycle [Term] id: HP:0003215 name: Dicarboxylic aciduria def: "An increased concentration of dicarboxylic acid in the urine." [HPO:gcarletti] comment: Dicarboxylic aciduria occurs during increased mobilization or inhibited beta-oxidation of fatty acids, where a number of 3-hydroxydicarboxylic acids are excreted in the urine. xref: UMLS:C1856432 is_a: HP:0001992 ! Organic aciduria [Term] id: HP:0003216 name: Generalized amyloid deposition def: "A diffuse form of amyloidosis." [HPO:probinson] comment: According to MeSH (D000682), Amyloid is fibrous protein complex that consists of proteins folded into a specific cross beta-pleated sheet structure. This fibrillar structure has been found as an alternative folding pattern for a variety of functional proteins. Deposits of amyloid in the form of amyloid plaques are associated with a variety of degenerative diseases. The amyloid structure has also been found in a number of functional proteins that are unrelated to disease. xref: UMLS:C1862968 is_a: HP:0011034 ! Amyloidosis [Term] id: HP:0003217 name: Hyperglutaminemia def: "An increased concentration of glutamine in the blood." [HPO:gcarletti, pmid:4696900] comment: Normal glutamine blood levels are around 550-600 micromole per liter. synonym: "High plasma glutamine" EXACT layperson [] xref: UMLS:C1839533 is_a: HP:0010903 ! Abnormal circulating glutamine concentration [Term] id: HP:0003218 name: Oroticaciduria alt_id: HP:0000810 alt_id: HP:0010928 def: "An increased concentration of orotic acid in the urine." [HPO:gcarlotti] comment: Orotic acid is an intermediate in the biosynthesis of pyrimidine nucleotides. Some enzymatic deficiencies can cause the excretion of a large amount of orotic acid in the urine and a defect in pyrimidine biosynthesis. synonym: "High urine orotic acid levels" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased urinary orotic acid concentration" EXACT [] synonym: "Orotic aciduria" RELATED [HPO:skoehler] xref: SNOMEDCT_US:124277009 xref: SNOMEDCT_US:47641009 xref: UMLS:C0268128 is_a: HP:0031980 ! Abnormal urine carboxylic acid level [Term] id: HP:0003219 name: Ethylmalonic aciduria def: "An increased concentration of ethylmalonic acid in the urine." [HPO:probinson] comment: Ethylmalonic acid is a dicarboxylic acid obtained by substitution of one of the methylene hydrogens of malonic acid by an ethyl group. xref: UMLS:C1865353 is_a: HP:0003215 ! Dicarboxylic aciduria [Term] id: HP:0003220 name: Abnormality of chromosome stability alt_id: HP:0002915 alt_id: HP:0008307 def: "A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration." [HPO:probinson] xref: MSH:D019457 xref: UMLS:C0376628 xref: UMLS:C1859424 is_a: HP:0011017 ! Abnormal cellular physiology [Term] id: HP:0003221 name: Chromosomal breakage induced by crosslinking agents def: "Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C." [HPO:sdoelken] comment: Increased tendency to chromosomal breakage induced by crosslinking agents is typical for the various forms of Fanconi anemia. synonym: "Chromosomal breakage induced by diepoxybutane" EXACT [] synonym: "Chromosomal breakage induced by mitomycin C" EXACT [] xref: UMLS:C4021737 is_a: HP:0040012 ! Chromosome breakage [Term] id: HP:0003223 name: Decreased methylcobalamin alt_id: HP:0008287 def: "Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12." [HPO:probinson] synonym: "Methylcobalamin deficiency" EXACT [] xref: UMLS:C4021736 is_a: HP:0040126 ! Abnormal vitamin B12 level [Term] id: HP:0003224 name: Increased cellular sensitivity to UV light xref: UMLS:C1857707 is_a: HP:0011017 ! Abnormal cellular physiology [Term] id: HP:0003225 name: Reduced coagulation factor V activity def: "Decreased activity of coagulation factor V." [HPO:probinson] comment: Factor V is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex. synonym: "Factor V deficiency" RELATED [] synonym: "Reduced factor V activity" EXACT [] xref: MSH:D005166 xref: SNOMEDCT_US:4320005 xref: SNOMEDCT_US:88776002 xref: UMLS:C0015499 is_a: HP:0031899 ! Abnormal coagulation factor V activity [Term] id: HP:0003226 name: Rectilinear intracellular accumulation of autofluorescent lipopigment storage material def: "An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern." [HPO:probinson] synonym: "Rectilinear profiles ultrastructurally" EXACT [] xref: UMLS:C1850447 is_a: HP:0003204 ! Intracellular accumulation of autofluorescent lipopigment storage material [Term] id: HP:0003228 name: Hypernatremia def: "An abnormally increased sodium concentration in the blood." [HPO:probinson] synonym: "High blood sodium levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D006955 xref: SNOMEDCT_US:286926003 xref: SNOMEDCT_US:39355002 xref: UMLS:C0020488 is_a: HP:0010931 ! Abnormal blood sodium concentration [Term] id: HP:0003231 name: Hypertyrosinemia def: "An increased concentration of tyrosine in the blood." [HPO:probinson] comment: Defect in fumarylacetoacetase. synonym: "Increased tyrosine in blood" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Tyrosinemia" EXACT [] xref: SNOMEDCT_US:56595005 xref: UMLS:C1879362 is_a: HP:0010917 ! Abnormal circulating tyrosine concentration [Term] id: HP:0003232 name: Mitochondrial malic enzyme reduced synonym: "Decreased mitochondrial malic enzyme" EXACT [HPO:skoehler] xref: UMLS:C1856697 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0003233 name: Decreased HDL cholesterol concentration def: "An decreased concentration of high-density lipoprotein cholesterol in the blood." [HPO:gcarletti] synonym: "Decreased circulating high-density lipoprotein cholesterol" EXACT layperson [] synonym: "Decreased circulating high-density lipoprotein levels" EXACT [] synonym: "Decreased HDL cholesterol" EXACT layperson [] synonym: "Hypoalphalipoproteinemia" EXACT [] synonym: "Low HDL-cholesterol" EXACT layperson [] xref: MSH:D052456 xref: SNOMEDCT_US:190785000 xref: UMLS:C0151691 xref: UMLS:C0473527 is_a: HP:0010981 ! Hypolipoproteinemia is_a: HP:0031888 ! Abnormal HDL cholesterol concentration [Term] id: HP:0003234 name: Decreased plasma carnitine def: "A decreased concentration of carnitine in the blood." [HPO:gcarletti] comment: Carnitine is responsible for the transport of fatty acids from the cytosol into the mitochondria. synonym: "Carnitine deficiency" RELATED layperson [] synonym: "Decreased plasma carnitine" EXACT layperson [] xref: SNOMEDCT_US:421784001 xref: UMLS:C1142132 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism is_a: HP:0010967 ! Abnormal circulating carnitine concentration [Term] id: HP:0003235 name: Hypermethioninemia def: "An increased concentration of methionine in the blood." [HPO:gcarletti] comment: Elevated blood methionine levels in the range of 500-2000 micromolar. synonym: "Increased methionine in blood" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Methioninemia" EXACT [] xref: MSH:C564683 xref: SNOMEDCT_US:124283007 xref: SNOMEDCT_US:43123004 xref: SNOMEDCT_US:57835009 xref: UMLS:C0268621 is_a: HP:0010901 ! Abnormal circulating methionine concentration [Term] id: HP:0003236 name: Elevated serum creatine kinase alt_id: HP:0002147 alt_id: HP:0002906 alt_id: HP:0003078 alt_id: HP:0003525 alt_id: HP:0003531 alt_id: HP:0008164 def: "An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy." [HPO:probinson] comment: 'has part' some \n('increased amount' and ('inheres in' some \n(IMR_0002602 and ('part of' some blood))) and ('has modifier' some abnormal)) synonym: "Elevated blood creatine phosphokinase" EXACT layperson [] synonym: "Elevated circulating creatine phosphokinase" EXACT layperson [] synonym: "Elevated creatine kinase" EXACT layperson [] synonym: "Elevated serum CPK" EXACT layperson [] synonym: "Elevated serum creatine kinase" EXACT layperson [] synonym: "Elevated serum creatine phosphokinase" EXACT layperson [] synonym: "High serum creatine kinase" EXACT layperson [] synonym: "Increased CPK" EXACT layperson [] synonym: "Increased creatine kinase" EXACT layperson [] synonym: "Increased creatine phosphokinase" EXACT layperson [] synonym: "Increased serum CK" EXACT layperson [] synonym: "Increased serum creatine kinase" EXACT layperson [] synonym: "Increased serum creatine phosphokinase" EXACT layperson [] xref: UMLS:C0151576 xref: UMLS:C0241005 is_a: HP:0040081 ! Abnormal circulating creatine kinase concentration [Term] id: HP:0003237 name: Increased circulating IgG level def: "An abnormally increased level of immunoglobulin G in blood." [HPO:probinson] synonym: "Increased IgG level" EXACT [] synonym: "Increased levels of IgG" EXACT [] synonym: "Increased total IgG in blood" EXACT [] xref: UMLS:C1858977 is_a: HP:0010702 ! Increased antibody level in blood is_a: HP:0410242 ! Abnormal IgG level [Term] id: HP:0003238 name: Hyperpepsinogenemia I xref: UMLS:C4025638 is_a: HP:0010876 ! Abnormal circulating protein level [Term] id: HP:0003239 name: Phosphoethanolaminuria def: "An increased concentration of phosphoethanolamine in the urine." [HPO:probinson] synonym: "High urine phosphoethanolamine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:C562646 xref: SNOMEDCT_US:55236002 xref: UMLS:C0268412 is_a: HP:0003109 ! Hyperphosphaturia [Term] id: HP:0003240 name: Increased phosphoribosylpyrophosphate synthetase activity def: "Abnormally elevated activity of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate." [PMID:4200723] synonym: "Increased phosphoribosyl pyrophosphate synthetase activity" EXACT [] synonym: "Increased PRPS1 activity" EXACT [] xref: UMLS:C4025637 is_a: HP:0032459 ! Abnormal phosphoribosylpyrophosphate synthetase activity [Term] id: HP:0003241 name: External genital hypoplasia alt_id: HP:0000788 alt_id: HP:0003245 def: "Underdevelopment of part or all of the external reproductive organs." [HPO:probinson] comment: Partial or complete failure of the genitalia to develop, often as a consequence of hypogonadism. synonym: "Hypogenitalism" EXACT [] synonym: "Small genitalia" EXACT [] synonym: "Underdevelopment of external reproductive organs" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1855333 is_a: HP:0000811 ! Abnormal external genitalia [Term] id: HP:0003244 name: Penile hypospadias def: "Location of the urethral opening on the inferior aspect of the penis." [HPO:curators] xref: SNOMEDCT_US:204888000 xref: UMLS:C1691215 is_a: HP:0000047 ! Hypospadias [Term] id: HP:0003246 name: Prominent scrotal raphe def: "Increased size of the ridge of tissue that extends along the midline of the scrotum." [HPO:probinson] synonym: "Prominent perineal raphe" EXACT [] xref: UMLS:C1852407 is_a: HP:0000045 ! Abnormality of the scrotum [Term] id: HP:0003247 name: Overgrowth of external genitalia synonym: "Overgrowth of external genitalia" EXACT layperson [] xref: UMLS:C1851722 is_a: HP:0000811 ! Abnormal external genitalia [Term] id: HP:0003248 name: Gonadal tissue inappropriate for external genitalia or chromosomal sex xref: UMLS:C1860268 is_a: HP:0000062 ! Ambiguous genitalia [Term] id: HP:0003249 name: Genital ulcers synonym: "Genital ulcers" EXACT layperson [] xref: UMLS:C0151281 is_a: HP:0012243 ! Abnormal reproductive system morphology [Term] id: HP:0003250 name: Aplasia of the vagina alt_id: HP:0008709 def: "Aplasia of the vagina." [HPO:probinson] synonym: "Absent vagina" EXACT layperson [] synonym: "Congenital absence of the vagina" EXACT [] xref: MSH:C536523 xref: SNOMEDCT_US:248871003 xref: SNOMEDCT_US:87380008 xref: UMLS:C0220763 xref: UMLS:C1321884 xref: UMLS:C1841990 is_a: HP:0011026 ! Aplasia/Hypoplasia of the vagina [Term] id: HP:0003251 name: Male infertility synonym: "Male infertility" EXACT layperson [] xref: MSH:D007248 xref: SNOMEDCT_US:2904007 xref: UMLS:C0021364 is_a: HP:0000789 ! Infertility is_a: HP:0012041 ! Decreased fertility in males [Term] id: HP:0003252 name: Anteriorly displaced genitalia xref: UMLS:C1848653 is_a: HP:0012243 ! Abnormal reproductive system morphology [Term] id: HP:0003254 name: Abnormality of DNA repair def: "An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage." [HPO:probinson] xref: UMLS:C4021848 is_a: HP:0011017 ! Abnormal cellular physiology [Term] id: HP:0003256 name: Abnormality of the coagulation cascade alt_id: HP:0001925 def: "An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators." [HPO:probinson] synonym: "Coagulopathy" EXACT [] xref: MSH:D001778 xref: SNOMEDCT_US:362970003 xref: SNOMEDCT_US:64779008 xref: UMLS:C0005779 is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0003258 name: Glyoxalase deficiency xref: UMLS:C3279658 is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity [Term] id: HP:0003259 name: Elevated serum creatinine alt_id: HP:0003227 def: "An increased amount of creatinine in the blood." [HPO:gcarletti] synonym: "Elevated creatinine" EXACT layperson [] synonym: "High blood creatinine level" EXACT layperson [] synonym: "Increased creatinine" EXACT layperson [] synonym: "Increased serum creatinine" EXACT layperson [] xref: SNOMEDCT_US:166717003 xref: UMLS:C0700225 is_a: HP:0002157 ! Azotemia is_a: HP:0012100 ! Abnormal circulating creatinine level [Term] id: HP:0003260 name: Hydroxyprolinemia def: "An increased concentration of hydroxyproline in the blood." [HPO:gcarletti] comment: Hydroxyproline is an imino acid normally present in human plasma and is derived primarily from endogenous collagen turnover and the breakdown of dietary collagen. Hyperhydroxyprolinemic patients show hydroxyproline blood levels between 150 and 500 micromole per liter. Normal levels are around 10-20 micromole per liter. synonym: "High blood hydroxyproline levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:C562669 xref: SNOMEDCT_US:25739007 xref: UMLS:C0268531 is_a: HP:0010907 ! Abnormal circulating proline concentration [Term] id: HP:0003261 name: Increased circulating IgA level alt_id: HP:0004436 alt_id: HP:0005351 alt_id: HP:0005417 def: "An abnormally increased level of immunoglobulin A in blood." [HPO:probinson] synonym: "Elevated IgA" EXACT [] synonym: "Elevated serum IgA" EXACT [] synonym: "IgA hypergammaglobulinemia" EXACT [] synonym: "Increased levels of IgA" EXACT [] synonym: "Increased serum IgA" EXACT [] xref: UMLS:C0239984 is_a: HP:0010702 ! Increased antibody level in blood is_a: HP:0410240 ! Abnormal IgA level [Term] id: HP:0003262 name: Smooth muscle antibody positivity def: "The presence in serum of antibodies against smooth muscle." [HPO:probinson] comment: Anti smooth muscle antibody (SMA) may be present in a number of conditions including chronic active hepatitis, autoimmune hepatitis, cirrhosis, and infectious mononucleosis. synonym: "Anti-smooth muscle antibody positivity" EXACT [] synonym: "Smooth muscle antibody positive" EXACT [] xref: SNOMEDCT_US:310290006 xref: UMLS:C0241185 is_a: HP:0030057 ! Autoimmune antibody positivity [Term] id: HP:0003264 name: Deficiency of N-acetylglucosamine-1-phosphotransferase comment: N-acetylglucosamine-1-phosphotransferase catalyzes the initial step in the synthesis of the mannose 6-phosphate determinant required for efficient intracellular targeting of newly synthesized lysosomal hydrolases to the lysosome. xref: MSH:D009081 xref: SNOMEDCT_US:70199000 xref: UMLS:C0020725 is_a: HP:0004356 ! Abnormality of lysosomal metabolism [Term] id: HP:0003265 name: Neonatal hyperbilirubinemia alt_id: HP:0008152 def: "A type of hyperbilirubinemia with neonatal onset." [HPO:probinson] synonym: "High blood bilirubin levels in neonate" EXACT [ORCID:0000-0001-5208-3432] synonym: "Hyperbilirubinemia, neonatal" EXACT [] xref: MSH:D051556 xref: SNOMEDCT_US:281610001 xref: UMLS:C0857007 is_a: HP:0002904 ! Hyperbilirubinemia [Term] id: HP:0003267 name: Reduced orotidine 5-prime phosphate decarboxylase activity def: "An abnormal decrease in orotidine 5'-phosphate decarboxylase activity." [HPO:gcarletti] comment: The enzyme orotidine-5-prime-phosphate decarboxylase (EC 4.1.1.23) catalyzes the reaction H(+) + orotidine 5'-phosphate = CO(2) + UMP (uridine monophosphate). The enzyme is thusinvolved in pyrimidine biosynthesis. synonym: "Orotidine-5-prime-phosphate decarboxylase defect" RELATED [] xref: UMLS:C4020845 xref: UMLS:C4025636 is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity [Term] id: HP:0003268 name: Argininuria def: "A increased concentration of arginine in the urine." [HPO:probinson, pmid:18901181, pmid:20240447] comment: Normal urinary arginine total (free and combined form) excretion is around 30 mg per 24 hours. synonym: "High urine arginine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025635 is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0003269 name: Sudanophilic leukodystrophy xref: MSH:D020371 xref: SNOMEDCT_US:64855000 xref: UMLS:C0205711 is_a: HP:0002415 ! Leukodystrophy [Term] id: HP:0003270 name: Abdominal distention alt_id: HP:0001542 alt_id: HP:0003364 def: "Distention of the abdomen." [HPO:probinson] comment: Abdominal distention can be a secondary feature associated with a number of conditions such as bowel obstruction. subset: hposlim_core synonym: "Abdominal bloating" EXACT layperson [] synonym: "Abdominal distension" EXACT [] synonym: "Abdominal swelling" EXACT layperson [] synonym: "Belly bloating" EXACT layperson [] synonym: "Bloating" EXACT layperson [] synonym: "Distended abdomen" EXACT [] xref: SNOMEDCT_US:41931001 xref: SNOMEDCT_US:60728008 xref: UMLS:C0000731 is_a: HP:0011458 ! Abdominal symptom [Term] id: HP:0003271 name: Visceromegaly def: "Abnormal increased size of the viscera of the abdomen." [HPO:probinson] comment: Visceromegaly is enlargement of the internal organs in the abdomen, including liver, spleen, stomach, kidneys, or pancreas. xref: SNOMEDCT_US:28543008 xref: UMLS:C0042782 is_a: HP:0001438 ! Abnormality of abdomen morphology [Term] id: HP:0003272 name: Abnormality of the hip bone def: "An abnormality of the hip bone." [HPO:probinson] comment: The hip region comprises the vasculature of hip, skin of hip, superficial fascia of hip, the hip bone, hip joint, and musculature of hip. The hip is part of the pelvic girdle. synonym: "Abnormality of the hip bone" EXACT layperson [] synonym: "Abnormality of the hips" EXACT layperson [] xref: UMLS:C4021735 is_a: HP:0002644 ! Abnormality of pelvic girdle bone morphology [Term] id: HP:0003273 name: Hip contracture synonym: "Flexion contracture of hips" EXACT [] synonym: "Flexion contractures of hips" EXACT [] synonym: "Hip contractures" EXACT [] synonym: "Hip flexion contractures" EXACT [] xref: SNOMEDCT_US:202283002 xref: UMLS:C0409354 is_a: HP:0005750 ! Contractures of the joints of the lower limbs is_a: HP:0008800 ! Limited hip movement [Term] id: HP:0003274 name: Hypoplastic acetabulae def: "Underdeveloped acetabulae." [HPO:probinson] subset: hposlim_core synonym: "Acetabular hypoplasia" EXACT [] synonym: "Hypoplastic acetabula" EXACT [] xref: UMLS:C1846442 is_a: HP:0003170 ! Abnormality of the acetabulum [Term] id: HP:0003275 name: Narrow pelvis bone def: "Reduced side to side width of the pelvis." [HPO:probinson] subset: hposlim_core synonym: "Narrow pelvis" BROAD layperson [HPO:skoehler] synonym: "Narrow pelvis bone" EXACT layperson [] xref: UMLS:C1848103 is_a: HP:0040163 ! Abnormal pelvis bone morphology [Term] id: HP:0003276 name: Pelvic bone exostoses def: "A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage." [HPO:probinson] synonym: "Pelvic exostoses" BROAD [HPO:skoehler] xref: UMLS:C1844689 is_a: HP:0040163 ! Abnormal pelvis bone morphology is_a: HP:0100777 ! Exostoses [Term] id: HP:0003277 name: Constricted iliac wings xref: UMLS:C1854785 is_a: HP:0011867 ! Abnormality of the wing of the ilium [Term] id: HP:0003278 name: Square pelvis bone def: "An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure." [HPO:probinson] synonym: "Square pelvis" BROAD layperson [HPO:skoehler] synonym: "Square pelvis bone" EXACT layperson [] synonym: "Squared off pelvis" RELATED [] xref: UMLS:C1849953 is_a: HP:0040163 ! Abnormal pelvis bone morphology [Term] id: HP:0003279 name: Coxa magna def: "Widening of the femoral head and neck." [HPO:probinson] comment: Coxa magna can occur as a result of developmental dysplasia of the hip, Perthes disease, septic arthritis, Kniest dysplasia, among others. xref: MSH:D000070603 xref: SNOMEDCT_US:296041000119103 xref: UMLS:C1860826 is_a: HP:0003272 ! Abnormality of the hip bone [Term] id: HP:0003281 name: Increased serum ferritin def: "Abnormal raised concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood." [HPO:probinson] comment: Ferritin levels measured in serum usually have a direct correlation with the total amount of iron stored in the body, but ferritin levels may also be increased with anemia of chronic disease or in the course of an acute phase reaction. synonym: "Elevated serum ferritin" EXACT layperson [] synonym: "High ferritin level" EXACT layperson [] synonym: "Hyperferritinaemia" EXACT [] synonym: "Hyperferritinemia" EXACT [] synonym: "Increased ferritin" EXACT layperson [] synonym: "Increased plasma ferritin" EXACT [] synonym: "Increased serum ferritin level" EXACT layperson [] xref: UMLS:C0241013 xref: UMLS:C0743912 xref: UMLS:C3854388 is_a: HP:0040133 ! Abnormal serum ferritin [Term] id: HP:0003282 name: Low alkaline phosphatase def: "Abnormally reduced serum levels of alkaline phosphatase activity." [HPO:probinson] synonym: "Decreased serum alkaline phosphatase" EXACT layperson [] synonym: "Low ALP" EXACT HP:0045077 [] xref: UMLS:C1860130 is_a: HP:0004379 ! Abnormality of alkaline phosphatase activity [Term] id: HP:0003286 name: Cystathioninemia def: "An increased concentration of cystathionine in the blood." [HPO:gcarletti, pmid:16902722] comment: Cystathionine can be directly interconverted to cysteine. Cystathionine is not normally detectable in plasma. synonym: "High blood cystathionine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:6669004 xref: UMLS:C0268618 is_a: HP:0004339 ! Abnormal circulating sulfur amino acid concentration [Term] id: HP:0003287 name: Abnormality of mitochondrial metabolism def: "A functional anomaly of mitochondria." [ORCID:0000-0001-5208-3432] synonym: "Mitochondrial dysfunction" EXACT [] xref: UMLS:C4021734 is_a: HP:0012103 ! Abnormality of the mitochondrion [Term] id: HP:0003288 name: Mitochondrial propionyl-CoA carboxylase defect synonym: "Mitochondrial PCC defect" EXACT [] xref: UMLS:C4025634 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0003292 name: Decreased serum leptin def: "A decreased concentration of leptin in the blood." [HPO:probinson, pmid:16932309] comment: Leptin is an adipocyte-secreted hormone with a key role in energy homeostasis. synonym: "Decreased serum leptin" EXACT layperson [] synonym: "Reduced circulating leptin level" EXACT [] xref: UMLS:C1837802 is_a: HP:0004361 ! Abnormality of circulating leptin level [Term] id: HP:0003295 name: obsolete Impaired FSH and LH secretion is_obsolete: true consider: HP:0030339 [Term] id: HP:0003296 name: Hyperthreoninuria def: "An increased concentration of threonine in the urine." [HPO:probinson, pmid:18901181, pmid:20240447] comment: Normal urinary threonine total (free and combined form) excretion is around 50 mg per 24 hours. synonym: "High urine threonine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C2673931 is_a: HP:0008353 ! Neutral hyperaminoaciduria [Term] id: HP:0003297 name: Hyperlysinuria alt_id: HP:0002158 def: "An increased concentration of lysine in the urine." [HPO:probinson, pmid:18901181, pmid:20240447] comment: Normal urinary lysine total (free and combined form) excretion is around 80 mg per 24 hours. synonym: "High urine lysine levels" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Lysinuria" EXACT [] xref: UMLS:C4021733 is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0003298 name: Spina bifida occulta def: "The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin." [HPO:probinson] comment: May be asymptomatic. subset: hposlim_core xref: MSH:D016136 xref: SNOMEDCT_US:76916001 xref: UMLS:C0080174 is_a: HP:0002414 ! Spina bifida [Term] id: HP:0003300 name: Ovoid vertebral bodies alt_id: HP:0004559 def: "When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval." [HPO:probinson] synonym: "Bullet vertebral body" RELATED [] synonym: "Oval vertebral bodies" EXACT [] synonym: "Ovoid vertebrae" EXACT [] synonym: "Ovoid-shaped vertebral bodies" EXACT [] xref: UMLS:C1855665 xref: UMLS:C4020844 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0003301 name: Irregular vertebral endplates alt_id: HP:0003420 alt_id: HP:0004583 alt_id: HP:0004628 def: "An irregular surface of the vertebral end plates, which are normally relatively smooth." [HPO:probinson] subset: hposlim_core synonym: "end-plate irregularities" EXACT [] synonym: "endplate irregularities" EXACT [] synonym: "endplate irregularity" EXACT [] synonym: "Irregular end plates" EXACT [] synonym: "Irregular endplates" EXACT [] synonym: "irregular vertebral plates" EXACT [] synonym: "vertebral endplate irregularity" EXACT [] xref: UMLS:C1842153 is_a: HP:0005106 ! Abnormality of the vertebral endplates [Term] id: HP:0003302 name: Spondylolisthesis def: "Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra." [HPO:probinson, pmid:20411054] synonym: "Displacement of one backbone compared to another" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Slipped backbone" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Spondylolithesis" EXACT [] xref: MSH:D013168 xref: SNOMEDCT_US:274152003 xref: UMLS:C0038016 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003304 name: Spondylolysis def: "Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma." [HPO:probinson, pmid:20440613] comment: The pars interarticularis is one of the bony bridges that connect the upper with the lower facet joints of the vertebra. Lumbar spondylolysis is a common cause of lower back pain. The vast majority of cases of spondylolysis occur at the L5 or L4 levels, and is usually diagnosed radiographically. Over half of patients affected by spondylolysis have associated spondylolisthesis. subset: hposlim_core xref: MSH:D013169 xref: SNOMEDCT_US:240221008 xref: UMLS:C0038018 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003305 name: Block vertebrae def: "Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies)." [HPO:probinson] xref: UMLS:C1844753 is_a: HP:0002948 ! Vertebral fusion [Term] id: HP:0003306 name: Spinal rigidity def: "Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion." [HPO:probinson, pmid:11601420, pmid:2246660] synonym: "Reduced spine movement" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Rigid spine" EXACT [] xref: UMLS:C1858025 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003307 name: Hyperlordosis alt_id: HP:0002939 def: "Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine." [HPO:probinson] subset: hposlim_core synonym: "Lordosis" EXACT [] synonym: "Prominent swayback" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D008141 xref: SNOMEDCT_US:249710008 xref: SNOMEDCT_US:61960001 xref: UMLS:C0024003 is_a: HP:0010674 ! Abnormality of the curvature of the vertebral column [Term] id: HP:0003308 name: Cervical subluxation def: "A partial dislocation of one or more intervertebral joints in the cervical vertebral column." [HPO:probinson] xref: UMLS:C1846798 is_a: HP:0003319 ! Abnormality of the cervical spine is_a: HP:0032153 ! Joint subluxation [Term] id: HP:0003309 name: Ovoid thoracolumbar vertebrae synonym: "Ovoid thoracic and lumbar vertebrae" EXACT [] xref: UMLS:C1868556 is_a: HP:0003300 ! Ovoid vertebral bodies [Term] id: HP:0003310 name: Abnormality of the odontoid process alt_id: HP:0004600 def: "Abnormality of the dens of the axis, which is also known as the odontoid process." [HPO:probinson] comment: The dens of the axis is a protuberance of the C2 vertebral body around which the first vertebra rotates. synonym: "Abnormal odontoid peg" EXACT [] synonym: "Abnormal odontoid process" EXACT [] xref: UMLS:C1864794 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003311 name: Hypoplasia of the odontoid process alt_id: HP:0003299 alt_id: HP:0004613 alt_id: HP:0008481 def: "Developmental hypoplasia of the dens of the axis." [HPO:probinson] subset: hposlim_core synonym: "Hypoplastic odontoid process" EXACT [] synonym: "Odontoid hypoplasia" EXACT [] synonym: "Small odontoid peg" EXACT [ORCID:0000-0001-5208-3432] synonym: "Small odontoid process" EXACT [] xref: UMLS:C1846439 is_a: HP:0003310 ! Abnormality of the odontoid process is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column [Term] id: HP:0003312 name: Abnormal form of the vertebral bodies def: "Abnormal morphology of vertebral body." [] synonym: "Abnormally shaped vertebrae" EXACT [] xref: UMLS:C1839326 is_a: HP:0003468 ! Abnormal vertebral morphology [Term] id: HP:0003316 name: Butterfly vertebrae def: "In the orthopedic and radiological literature, sagittally cleft vertebra is generally known as a butterfly vertebra." [HPO:probinson, pmid:3693103] synonym: "Butterfly vertebrae" EXACT layperson [] xref: UMLS:C1844752 is_a: HP:0008428 ! Vertebral clefting [Term] id: HP:0003318 name: Cervical spine hypermobility xref: SNOMEDCT_US:298186005 xref: UMLS:C0574967 is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0003319 name: Abnormality of the cervical spine alt_id: HP:0004587 def: "Any abnormality of the cervical vertebral column." [HPO:probinson] synonym: "Abnormal cervical spine" EXACT layperson [] synonym: "Abnormality of cervical vertebra" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the cervical vertebrae" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Cervical spine abnormalities" EXACT [] synonym: "Cervical vertebral abnormalities" EXACT [] synonym: "Cervical vertebral anomalies" RELATED [HPO:skoehler] synonym: "Disorder of cervical vertebra" EXACT [] xref: UMLS:C1852464 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003320 name: C1-C2 subluxation def: "A partial dislocation of the atlantoaxial joints." [HPO:curators] comment: A subluxation affecting the intervertebral joint between the first and second cervical vertebrae. xref: UMLS:C1848446 is_a: HP:0003308 ! Cervical subluxation is_a: HP:0008440 ! C1-C2 vertebral abnormality [Term] id: HP:0003321 name: Biconcave flattened vertebrae alt_id: HP:0005782 xref: UMLS:C1833753 is_a: HP:0000926 ! Platyspondyly is_a: HP:0004586 ! Biconcave vertebral bodies [Term] id: HP:0003323 name: Progressive muscle weakness alt_id: HP:0009032 synonym: "Muscle weakness, progressive" EXACT [] synonym: "Progressive muscular weakness" EXACT [] xref: UMLS:C0240421 is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003324 name: Generalized muscle weakness alt_id: HP:0003686 alt_id: HP:0003723 def: "Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature." [HPO:probinson] synonym: "Generalized weakness" EXACT [] synonym: "Muscle weakness, diffuse" EXACT [] synonym: "Muscle weakness, generalized" EXACT [] xref: UMLS:C0746674 is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003325 name: Limb-girdle muscle weakness alt_id: HP:0008971 def: "Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis." [HPO:curators] synonym: "Limb girdle weakness" EXACT [] synonym: "Muscle weakness, limb-girdle" EXACT [] synonym: "Muscular weakness, limb-girdle" EXACT [] xref: UMLS:C1858127 is_a: HP:0001324 ! Muscle weakness is_a: HP:0009127 ! Abnormality of the musculature of the limbs [Term] id: HP:0003326 name: Myalgia alt_id: HP:0003718 def: "Pain in muscle." [HPO:probinson] synonym: "Muscle ache" EXACT layperson [ORCID:0000-0002-0736-9199] synonym: "Muscle pain" EXACT layperson [ORCID:0000-0002-0736-9199] synonym: "Myalgias" RELATED HP:0045078 [HPO:skoehler] xref: MSH:D063806 xref: SNOMEDCT_US:68962001 xref: UMLS:C0231528 is_a: HP:0012531 ! Pain [Term] id: HP:0003327 name: Axial muscle weakness def: "Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs)." [HPO:curators] xref: UMLS:C1843697 is_a: HP:0001324 ! Muscle weakness is_a: HP:0040286 ! Abnormality of axial muscles [Term] id: HP:0003328 name: Abnormal hair laboratory examination xref: UMLS:C4025632 is_a: HP:0001595 ! Abnormal hair morphology [Term] id: HP:0003329 name: Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes xref: UMLS:C4025631 is_a: HP:0003328 ! Abnormal hair laboratory examination [Term] id: HP:0003330 name: Abnormal bone structure def: "Any anomaly in the composite material or the layered arrangement of the bony skeleton." [HPO:probinson] xref: UMLS:C4025630 is_a: HP:0011842 ! Abnormality of skeletal morphology [Term] id: HP:0003332 name: Absent primary metaphyseal spongiosa xref: UMLS:C3277126 is_a: HP:0005089 ! Abnormal metaphyseal trabeculation [Term] id: HP:0003333 name: Increased serum beta-hexosaminidase alt_id: HP:0008299 comment: This enzyme removes a beta-1,4-linked N-acetylhexosamine residue from the GM2 ganglioside. xref: UMLS:C2673361 is_a: HP:0010876 ! Abnormal circulating protein level [Term] id: HP:0003334 name: Elevated circulating catecholamine level def: "An abnormal increase in catecholamine concentration in the blood." [HPO:probinson] comment: Elevated circulating catecholamine level is a common feature in patients with pheochromocytoma. xref: UMLS:C4025629 is_a: HP:0012099 ! Abnormality of circulating catecholamine level [Term] id: HP:0003335 name: obsolete Low gonadotropins (secondary hypogonadism) is_obsolete: true replaced_by: HP:0000044 [Term] id: HP:0003336 name: Abnormal enchondral ossification alt_id: HP:0003331 def: "An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage." [HPO:probinson] comment: This term is intended to describe histological abnormalities of enchondral ossification observed upon bone biopsy. xref: UMLS:C4025628 is_a: HP:0011849 ! Abnormal bone ossification [Term] id: HP:0003337 name: Reduced prothrombin consumption alt_id: HP:0008172 def: "The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia." [HPO:probinson] synonym: "Poor prothrombin consumption" EXACT [] xref: UMLS:C4021732 is_a: HP:0012200 ! Abnormality of prothrombin [Term] id: HP:0003338 name: Focal necrosis of right ventricular muscle cells xref: UMLS:C4025627 is_a: HP:0001637 ! Abnormal myocardium morphology [Term] id: HP:0003339 name: Pyrimidine-responsive megaloblastic anemia def: "A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid." [HPO:probinson] synonym: "Anemia corrected by uridylic acid and cytidylic acid" EXACT [] xref: UMLS:C4021731 is_a: HP:0001889 ! Megaloblastic anemia [Term] id: HP:0003340 name: obsolete Abnormal dermatological laboratory findings is_obsolete: true consider: HP:0000951 [Term] id: HP:0003341 name: Junctional split def: "The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin." [HPO:probinson] synonym: "Subepidermal blistering with cleavage in the lamina lucida" EXACT [] xref: UMLS:C4021730 is_a: HP:0008066 ! Abnormal blistering of the skin [Term] id: HP:0003343 name: Reduced glutathione synthetase activity def: "Reduced activity of the enzyme glutathione synthetase, which catalyzes the last step in the synthesis of glutathione and a deficiency results in low levels of glutathione. Acidosis is due to reduced feedback inhibition of gamma-glutamyl cysteine synthetase in the gamma-glutamyl cycle, which ultimately leads to overproduction and accumulation of 5-oxoproline." [PMID:17397529] synonym: "Glutathione synthetase deficiency" EXACT [] xref: MSH:C536835 xref: SNOMEDCT_US:124706000 xref: SNOMEDCT_US:234589002 xref: SNOMEDCT_US:39112005 xref: UMLS:C0398746 is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity [Term] id: HP:0003344 name: 3-Methylglutaric aciduria synonym: "3-Methylglutaconicaciduria" EXACT [] synonym: "3-methylglutaricaciduria" EXACT [] xref: UMLS:C3151952 is_a: HP:0003535 ! 3-Methylglutaconic aciduria [Term] id: HP:0003345 name: Elevated urinary norepinephrine def: "An increased concentration of noradrenaline in the urine." [HPO:probinson] xref: UMLS:C4025626 is_a: HP:0011976 ! Elevated urinary catecholamines [Term] id: HP:0003347 name: Impaired lymphocyte transformation with phytohemagglutinin def: "Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes." [HPO:probinson] comment: The response of lymphocytes to PHA is measured by their ability to transform and to undergo mitosis. xref: UMLS:C4025625 is_a: HP:0004332 ! Abnormal lymphocyte morphology [Term] id: HP:0003348 name: Hyperalaninemia def: "An increased concentration of alanine in the blood." [HPO:gcarletti, pmid:16902722, pmid:4696900] comment: This class referring to the clinical feature Hyperalaninemia and not to the disease entry. Normal alanine blood levels are around 350-400 micromole per liter. synonym: "Increased blood alanine" EXACT layperson [] synonym: "Increased serum alanine" EXACT layperson [] xref: MSH:C562684 xref: SNOMEDCT_US:2359002 xref: UMLS:C0268630 xref: UMLS:C1839424 xref: UMLS:C1849489 is_a: HP:0010916 ! Abnormal circulating alanine concentration [Term] id: HP:0003349 name: Low cholesterol esterification rate def: "A reduction in the rate of cholesterol esterification." [HPO:probinson, PMID:3378364] comment: Cholesterol esterification convers free cholesterol to cholesteryl esters between the carboxylate group of a fatty acid and the hydroxyl group of cholesterol. Esterification allows more cholesterol to be packaged into the interior of lipoproteins. Cholesterol esterification rates can be measured in skin fibroblasts using for instance a non-lipoprotein [3H]cholesterol source. xref: UMLS:C1843371 is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity [Term] id: HP:0003351 name: Decreased circulating renin level alt_id: HP:0003263 def: "An decreased level of renin (PRO:000013883) in the blood." [HPO:probinson] synonym: "Decreased plasma renin activity" EXACT [] synonym: "Low plasma renin activity" EXACT [] synonym: "Suppressed plasma renin activity" EXACT [] xref: UMLS:C1845206 is_a: HP:0040084 ! Abnormal circulating renin [Term] id: HP:0003352 name: Endopolyploidy on chromosome studies of bone marrow def: "An increase in the number of chromosome sets per cell in bone marrow cells." [HPO:probinson] comment: Endopolyploidy is caused by replication without cell division. xref: UMLS:C4025624 is_a: HP:0002916 ! Abnormality of chromosome segregation [Term] id: HP:0003353 name: Propionyl-CoA carboxylase deficiency def: "An abnormality of amino acid metabolism characterized by a decreased rate of propionyl-CoA carboxylase activity." [HPO:probinson] comment: Propionyl-CoA is an important intermediate in the metabolism of several amino acids and is also produced by oxidation of odd-numbered fatty acids. xref: MSH:D056693 xref: SNOMEDCT_US:124718009 xref: SNOMEDCT_US:69080001 xref: UMLS:C0268579 is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity [Term] id: HP:0003354 name: Hyperthreoninemia def: "An increased concentration of threonine in the blood." [HPO:probinson] synonym: "Elevated circulating threonine" EXACT [] synonym: "High blood threonine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1848861 is_a: HP:0010900 ! Abnormal circulating threonine concentration [Term] id: HP:0003355 name: Aminoaciduria alt_id: HP:0002903 alt_id: HP:0200014 def: "An increased concentration of an amino acid in the urine." [HPO:SKOEHLER] synonym: "Abnormal urinary amino-acid findings" RELATED layperson [] synonym: "High urine amino acid levels" EXACT layperson [orcid.org/0000-0001-5208-3432] synonym: "Hyperaminoaciduria" EXACT [] synonym: "Increased levels of animo acids in urine" EXACT layperson [orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:35912001 xref: UMLS:C0238621 xref: UMLS:C4020843 is_a: HP:0012072 ! Aciduria [Term] id: HP:0003357 name: Thymic hormone decreased def: "A reduction in the level of thymic horomone." [PMID:7058086] synonym: "Decreased thymic hormone" EXACT [] xref: UMLS:C1857652 is_a: HP:0000777 ! Abnormality of the thymus [Term] id: HP:0003358 name: Elevated intracellular cystine def: "An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells." [HPO:probinson] comment: Cystine is a dimeric amino acid formed by the oxidation of two cysteine residues to form a disulfide bond. xref: UMLS:C4025623 is_a: HP:0011017 ! Abnormal cellular physiology [Term] id: HP:0003359 name: Decreased urinary sulfate def: "Decreased concentration of sulfate in the urine." [HPO:probinson] synonym: "Decreased urinary sulfate" EXACT layperson [] xref: UMLS:C1848958 is_a: HP:0012612 ! Abnormal urinary sulfate concentration [Term] id: HP:0003361 name: Tryptophanuria def: "An increased concentration of tryptophan in the urine." [HPO:gcarletti, pmid:18901181] comment: Normal urinary tryptophan total (free and combined form) excretion is around 40 mg per 24 hours. synonym: "High urine tryptophan levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:18789002 xref: UMLS:C0268472 is_a: HP:0008353 ! Neutral hyperaminoaciduria [Term] id: HP:0003362 name: Increased VLDL cholesterol concentration def: "An increase in the amount of very-low-density lipoprotein cholesterol in the blood." [HPO:gcarletti] synonym: "Increased circulating very-low-density lipoprotein cholesterol" EXACT [] synonym: "Increased circulating very-low-density lipoprotein levels" EXACT [] synonym: "Increased plasma VLDL cholesterol" EXACT HP:0045077 [] xref: UMLS:C4021729 is_a: HP:0010980 ! Hyperlipoproteinemia is_a: HP:0031889 ! Abnormal VLDL cholesterol concentration [Term] id: HP:0003363 name: Abdominal situs inversus def: "A left-right reversal (or \"mirror reflection\") of the anatomical location of the viscera of the abdomen." [HPO:probinson] synonym: "Situs inversus visceralis" EXACT [] synonym: "Situs inversus viscerum" EXACT [] xref: Fyler:3816 xref: MSH:D012857 xref: SNOMEDCT_US:27317008 xref: SNOMEDCT_US:43876007 xref: UMLS:C0037221 is_a: HP:0011620 ! Abnormality of abdominal situs [Term] id: HP:0003365 name: Arthralgia of the hip def: "Joint pain affecting the hip." [HPO:probinson] synonym: "Coxalgia" EXACT [] synonym: "Hip arthralgia" EXACT [] synonym: "Hip joint pain" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:49218002 xref: UMLS:C0019559 is_a: HP:0003272 ! Abnormality of the hip bone [Term] id: HP:0003366 name: Abnormality of the femoral neck or head region synonym: "Abnormal neck or head of thigh bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025622 is_a: HP:0002823 ! Abnormality of femur morphology [Term] id: HP:0003367 name: Abnormality of the femoral neck def: "An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [HPO:probinson] synonym: "Abnormal neck of thigh bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025621 is_a: HP:0003366 ! Abnormality of the femoral neck or head region [Term] id: HP:0003368 name: Abnormality of the femoral head def: "An abnormality of the femoral head." [HPO:probinson] synonym: "Abnormal head of thigh bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025620 is_a: HP:0003366 ! Abnormality of the femoral neck or head region [Term] id: HP:0003370 name: Flat capital femoral epiphysis alt_id: HP:0006393 def: "An abnormal flattening of the proximal epiphysis of the femur." [HPO:probinson] synonym: "Flat capital femoral epiphyses" EXACT [] synonym: "Flat end part of innermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Flat femoral capital epiphyses" EXACT [] synonym: "Flat proximal femoral epiphyses" EXACT [] synonym: "Flattened proximal femoral epiphyses" EXACT [] xref: UMLS:C1842155 is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head is_a: HP:0030289 ! Flattened femoral epiphysis [Term] id: HP:0003371 name: Enlargement of the proximal femoral epiphysis def: "An abnormal enlargement of the proximal epiphysis of the femur." [HPO:probinson] synonym: "Enlarged capital femoral epiphyses" EXACT [] synonym: "Enlarged end part of innermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1859697 is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head is_a: HP:0010580 ! Enlarged epiphyses [Term] id: HP:0003375 name: Narrow greater sacrosciatic notches alt_id: HP:0008805 alt_id: HP:0008813 alt_id: HP:0008840 alt_id: HP:0008842 def: "A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium." [HPO:curators] synonym: "Narrow sacrosciatic notch" EXACT [] synonym: "Narrow sciatic notches" EXACT [] synonym: "Narrowed greater sciatic notch" EXACT [] synonym: "Narrowed sacrosciatic notch" EXACT [] synonym: "Small sacrosciatic notch" EXACT [] synonym: "Small sacrosciatic notches" EXACT [] xref: SNOMEDCT_US:289457006 xref: UMLS:C0566888 is_a: HP:0010456 ! Abnormality of the greater sacrosciatic notch [Term] id: HP:0003376 name: Steppage gait def: "An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again." [HPO:probinson, PMID:27770207] synonym: "'steppage' gait" EXACT [] synonym: "High stepping" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D020233 xref: SNOMEDCT_US:27253007 xref: UMLS:C0427149 is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0003378 name: Axonal degeneration/regeneration def: "A pattern of simultaneous degeneration and regeneration of axons (see comment)." [HPO:probinson] comment: This finding is typically demonstrated by nerve biopsy. Following focal damage to an axon, the part of the axon that is distal to the lesion invariably degenerates, a process that is known as anterograde (or Wallerian) degeneration. During Wallerian degeneration, often a microenvironment is created that can allow successful regrowth of nerve fibres from the proximal nerve segment. synonym: "Axon degeneration and regeneration" EXACT [] xref: UMLS:C1968790 is_a: HP:0000764 ! Peripheral axonal degeneration [Term] id: HP:0003380 name: Decreased number of peripheral myelinated nerve fibers alt_id: HP:0003385 alt_id: HP:0003386 alt_id: HP:0007093 alt_id: HP:0007135 alt_id: HP:0007177 alt_id: HP:0007320 alt_id: HP:0007322 def: "A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy)." [HPO:probinson] comment: This finding can be demonstrated by nerve biopsy. synonym: "Decreased number of large and small myelinated fibers" EXACT [] synonym: "Loss of myelinated fibers" EXACT [] xref: UMLS:C1858285 is_a: HP:0003130 ! Abnormal peripheral myelination [Term] id: HP:0003382 name: Hypertrophic nerve changes xref: UMLS:C1832776 is_a: HP:0000759 ! Abnormal peripheral nervous system morphology [Term] id: HP:0003383 name: Onion bulb formation alt_id: HP:0003389 alt_id: HP:0007013 alt_id: HP:0007022 alt_id: HP:0007084 alt_id: HP:0008276 def: "Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves." [HPO:probinson] comment: This feature is characteristic of chronic demyelinating neuropathies as well as certain hereditary neuropathies. Onion-bulb formation may be observed in electron microscopic examinations of peripheral nerve biopsy material. Often, this examination is performed on the sural nerve. synonym: "'Onion bulb' formations" EXACT [] synonym: "Onion bulb formations" RELATED [HPO:skoehler] xref: UMLS:C1847906 is_a: HP:0003130 ! Abnormal peripheral myelination [Term] id: HP:0003384 name: Peripheral axonal atrophy def: "Atrophic changes of axons of the peripheral nervous system." [HPO:probinson] comment: This finding is typically demonstrated by nerve biopsy. xref: UMLS:C4025619 is_a: HP:0000764 ! Peripheral axonal degeneration [Term] id: HP:0003387 name: Decreased number of large peripheral myelinated nerve fibers alt_id: HP:0006868 alt_id: HP:0007031 alt_id: HP:0007315 def: "A reduced number of large myelinated nerve fibers." [HPO:probinson] comment: This finding can be demonstrated by nerve biopsy. synonym: "Depletion of large myelinated fibers" EXACT [] synonym: "Loss of large myelinated fibers" EXACT [] synonym: "Loss of larger myelinated nerve fibers" EXACT [] xref: UMLS:C1859606 is_a: HP:0003380 ! Decreased number of peripheral myelinated nerve fibers [Term] id: HP:0003388 name: Easy fatigability def: "Increased susceptibility to fatigue." [HPO:probinson] comment: Fatigue describes the inability to continue performing a task after multiple repetitions. synonym: "Tired easily" BROAD layperson [https://orcid.org/0000-0002-6548-5200, ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:248268002 xref: UMLS:C0424585 xref: UMLS:C1837098 is_a: HP:0004302 ! Functional motor deficit is_a: HP:0012638 ! Abnormality of nervous system physiology [Term] id: HP:0003390 name: Sensory axonal neuropathy alt_id: HP:0006883 alt_id: HP:0007248 alt_id: HP:0007345 def: "An axonal neuropathy of peripheral sensory nerves." [HPO:curators] synonym: "Axonal sensory neuropathy" EXACT [] synonym: "Peripheral sensory axonal neuropathy" RELATED [] xref: UMLS:C1842587 xref: UMLS:C1970883 is_a: HP:0000763 ! Sensory neuropathy is_a: HP:0003477 ! Peripheral axonal neuropathy [Term] id: HP:0003391 name: Gowers sign def: "A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs." [HPO:probinson] synonym: "Gower sign" EXACT [] synonym: "Positive Gower sign" EXACT [] synonym: "Positive Gowers sign" EXACT [] xref: SNOMEDCT_US:298294005 xref: SNOMEDCT_US:85905009 xref: UMLS:C0234182 xref: UMLS:C0575071 is_a: HP:0003701 ! Proximal muscle weakness [Term] id: HP:0003392 name: First dorsal interossei muscle weakness xref: UMLS:C1832277 is_a: HP:0002460 ! Distal muscle weakness [Term] id: HP:0003393 name: Thenar muscle atrophy def: "Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb." [] xref: UMLS:C1864715 is_a: HP:0009130 ! Hand muscle atrophy [Term] id: HP:0003394 name: Muscle spasm alt_id: HP:0009018 alt_id: HP:0031988 def: "Sudden and involuntary contractions of one or more muscles." [HPO:probinson] synonym: "Muscle cramps" EXACT HP:0045078 [] xref: MSH:D009120 xref: SNOMEDCT_US:55300003 xref: UMLS:C0026821 is_a: HP:0011804 ! Abnormal muscle physiology [Term] id: HP:0003396 name: Syringomyelia alt_id: HP:0006933 def: "Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord." [HPO:sdoelken] synonym: "Fluid-filled cyst in spinal cord" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Syrinx" EXACT [] xref: MSH:D013595 xref: SNOMEDCT_US:111496009 xref: UMLS:C0039144 is_a: HP:0100561 ! Spinal cord lesion [Term] id: HP:0003397 name: Generalized hypotonia due to defect at the neuromuscular junction xref: UMLS:C1853950 is_a: HP:0001290 ! Generalized hypotonia is_a: HP:0003398 ! Abnormal synaptic transmission at the neuromuscular junction [Term] id: HP:0003398 name: Abnormal synaptic transmission at the neuromuscular junction def: "Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers." [HPO:probinson] synonym: "Abnormality of neuromuscular transmission" RELATED [] xref: UMLS:C4020842 xref: UMLS:C4025618 is_a: HP:0030191 ! Abnormal peripheral nervous system synaptic transmission [Term] id: HP:0003400 name: Basal lamina onion bulb formation def: "A type of onion bulb formation prominently affecting the area of the basal lamina." [HPO:probinson] synonym: "Basal lamina 'onion bulb' formations on nerve biopsy" EXACT [] xref: UMLS:C1866637 is_a: HP:0003383 ! Onion bulb formation [Term] id: HP:0003401 name: Paresthesia alt_id: HP:0002082 def: "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:probinson] synonym: "Paresthesias" EXACT [] synonym: "Pins and needles feeling" EXACT layperson [] synonym: "Tingling" EXACT layperson [] xref: MSH:D010292 xref: SNOMEDCT_US:91019004 xref: UMLS:C0030554 is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0003402 name: Decreased miniature endplate potentials def: "An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction." [HPO:probinson] comment: Miniature end plate potentials are the small (about 0.5mV) depolarisations of the postsynaptic terminal caused by the release of a single vesicle into the synaptic cleft. synonym: "Decreased MEPP" EXACT [] synonym: "Small miniature endplate currents" EXACT [] synonym: "Small miniature endplate potentials" EXACT [] xref: UMLS:C1853952 is_a: HP:0003398 ! Abnormal synaptic transmission at the neuromuscular junction [Term] id: HP:0003403 name: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation alt_id: HP:0003430 alt_id: HP:0003478 def: "A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation." [HPO:probinson] comment: The result of this test is abnormal if progressively fewer muscle fibers respond to nerve stimulation during a train of stimuli, thereby yielding a decrementing pattern in the CMAP. synonym: "EMG: decrement at repetitive stimulation" RELATED [] synonym: "EMG: decremental response of CMAP to repetitive nerve stimulation" EXACT [] xref: UMLS:C4020841 xref: UMLS:C4021728 is_a: HP:0100285 ! EMG: impaired neuromuscular transmission [Term] id: HP:0003405 name: Diffuse axonal swelling xref: UMLS:C1865417 is_a: HP:0000759 ! Abnormal peripheral nervous system morphology [Term] id: HP:0003406 name: Peripheral nerve compression xref: UMLS:C1851414 is_a: HP:0045010 ! Abnormality of peripheral nerves [Term] id: HP:0003409 name: Distal sensory impairment of all modalities synonym: "Distal sensory loss to all modalities" EXACT [] xref: UMLS:C1836527 is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0003411 name: Proximal femoral metaphyseal irregularity def: "Irregularity of the normally smooth surface of the proximal metaphysis of the femur." [] synonym: "Irregular proximal femoral metaphyses" EXACT [] xref: UMLS:C1836320 is_a: HP:0003366 ! Abnormality of the femoral neck or head region is_a: HP:0006431 ! Proximal femoral metaphyseal abnormality is_a: HP:0030291 ! Lower-limb metaphyseal irregularity [Term] id: HP:0003413 name: Atlantoaxial abnormality def: "An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae." [HPO:probinson] xref: UMLS:C4025617 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003414 name: Atlantoaxial dislocation def: "Partial dislocation of the atlantoaxial joint." [HPO:curators] synonym: "Atlanto-axial subluxation" EXACT [] synonym: "Atlantoaxial subluxation" EXACT [] xref: SNOMEDCT_US:263042007 xref: SNOMEDCT_US:45179004 xref: UMLS:C0263905 is_a: HP:0003413 ! Atlantoaxial abnormality [Term] id: HP:0003416 name: Spinal canal stenosis alt_id: HP:0008446 def: "An abnormal narrowing of the spinal canal." [HPO:probinson] comment: Stenosis of the spinal canal can result in neurological symptoms because of compression of the spinal cord or spinal nerve roots, depending on the location of the stenosis in the vertebral column. subset: hposlim_core synonym: "Narrow spinal canal" EXACT layperson [] synonym: "Spinal stenosis" EXACT [] xref: UMLS:C1861329 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003417 name: Coronal cleft vertebrae alt_id: HP:0003673 def: "Frontal schisis (cleft or cleavage) of vertebral bodies." [HPO:probinson] comment: Coronal cleft vertebrae result when there are two, instead of one, primary ossification centers in a vertebral body. An unossified cartilaginous brdige may be observed radiographically with the shape of a cleft. If the two ossification centers are ventral/dorsal, a coronal cleft is observed, and if the two ossification centers are left/right, than a sagittal cleft is observed. synonym: "coronal cleft of vertebrae" EXACT [] synonym: "Coronal clefts" EXACT [] synonym: "Coronal vertebral clefts" EXACT [] synonym: "Vertebral coronal clefts" EXACT [] xref: UMLS:C1834954 is_a: HP:0008428 ! Vertebral clefting [Term] id: HP:0003418 name: Back pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back." [] synonym: "Back pain" EXACT layperson [] xref: MSH:D001416 xref: SNOMEDCT_US:161891005 xref: UMLS:C0004604 is_a: HP:0000925 ! Abnormality of the vertebral column is_a: HP:0012531 ! Pain [Term] id: HP:0003419 name: Low back pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back." [] synonym: "Lower back pain" EXACT [] xref: MSH:D017116 xref: SNOMEDCT_US:279039007 xref: UMLS:C0024031 is_a: HP:0003418 ! Back pain [Term] id: HP:0003421 name: obsolete Platyspondyly (childhood) is_obsolete: true replaced_by: HP:0000926 [Term] id: HP:0003422 name: Vertebral segmentation defect alt_id: HP:0005705 def: "An abnormality related to a defect of vertebral separation during development." [HPO:probinson, pmid:23653580, pmid:23801490] comment: The vertebral column derives from somites, transient paired segments of mesoderm that surround the neural tube in the early embryo. The formation of the vertebrar involves many processes including resegmentation of the rostral and caudal regions of adjacent somites that then fuse to form vertebral elements. Disruption of these processes can a cause of severe segmentation defects of the vetebrae. The frequency of segmentation defects of the vetebra has been estimated at 0.5 of 1000 births. The range of segmentation defects includes left-right uneven formation of somites that results in hemivertebrae or wedge vertebrae. Incomplete segmentation can result in fused segments such as block vertebrae. A failure of the process of resegmentation and migration of the sclerotomal compartment can result in a failure of midline fusion, such as butterlfy vertebrae. subset: hposlim_core synonym: "Abnormal spinal segmentation" EXACT [] xref: SNOMEDCT_US:205455005 xref: UMLS:C0432163 is_a: HP:0003468 ! Abnormal vertebral morphology [Term] id: HP:0003423 name: Thoracolumbar kyphoscoliosis synonym: "Dorsolumbar kyphosis" EXACT [] xref: UMLS:C1859335 is_a: HP:0002751 ! Kyphoscoliosis is_a: HP:0002944 ! Thoracolumbar scoliosis is_a: HP:0005619 ! Thoracolumbar kyphosis [Term] id: HP:0003426 name: First dorsal interossei muscle atrophy xref: UMLS:C1832278 is_a: HP:0007181 ! Interosseus muscle atrophy [Term] id: HP:0003427 name: Thenar muscle weakness xref: UMLS:C1832276 is_a: HP:0030237 ! Hand muscle weakness [Term] id: HP:0003429 name: CNS hypomyelination def: "Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis." [HPO:probinson] synonym: "hypomyelination" RELATED [] xref: SNOMEDCT_US:111007000 xref: UMLS:C0544820 xref: UMLS:C4025616 is_a: HP:0011400 ! Abnormal CNS myelination [Term] id: HP:0003431 name: Decreased motor nerve conduction velocity alt_id: HP:0000760 alt_id: HP:0003379 alt_id: HP:0003395 alt_id: HP:0003437 alt_id: HP:0006907 alt_id: HP:0008170 def: "A type of decreased nerve conduction velocity that affects the motor neuron." [HPO:probinson] comment: Newborn infants have values that are approximately half that of adults, and adult values are normally reached by age 3 or 4. Motor nerve conduction is evaluated by recording the compound muscle action potential (CMAP) associated with a mechanical contraction of a given muscle in response to electrical stimulation of the motor nerve fibers supplying that muscle. The CMAP is the sum of all the action potentials occurring individually in the contracting muscle fibers. synonym: "Decreased motor NCV" EXACT [] synonym: "Decreased motor nerve conduction velocities" EXACT [] synonym: "Reduced motor nerve conduction velocity" EXACT [] xref: UMLS:C1858729 is_a: HP:0000762 ! Decreased nerve conduction velocity is_a: HP:0040131 ! Abnormal motor nerve conduction velocity [Term] id: HP:0003434 name: Sensory ataxic neuropathy xref: UMLS:C1843859 is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0003435 name: Cold-induced hand cramps xref: UMLS:C1832279 is_a: HP:0003449 ! Cold-induced muscle cramps [Term] id: HP:0003436 name: Prolonged miniature endplate currents alt_id: HP:0003479 def: "An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction." [HPO:probinson] synonym: "Prolonged MEPC" EXACT [] synonym: "Prolonged MEPP" EXACT [] synonym: "Prolonged miniature endplate potentials" EXACT [] xref: UMLS:C1864238 is_a: HP:0003398 ! Abnormal synaptic transmission at the neuromuscular junction [Term] id: HP:0003438 name: Absent Achilles reflex alt_id: HP:0007032 alt_id: HP:0007241 def: "Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed." [HPO:probinson] synonym: "Absent ankle reflexes" EXACT layperson [] xref: MSH:D012021 xref: SNOMEDCT_US:274818004 xref: UMLS:C0558845 is_a: HP:0200101 ! Decreased/absent ankle reflexes [Term] id: HP:0003440 name: Horizontal sacrum subset: hposlim_core xref: UMLS:C1850558 is_a: HP:0005107 ! Abnormal sacrum morphology [Term] id: HP:0003443 name: Decreased size of nerve terminals def: "A reduction in the size of nerve terminals." [HPO:probinson] comment: Nerve terminals are the output region of nerves located presynaptically and (in the case of chemical synapses) containing vesicles of chemical neurotransmitters. Presynaptic nerve terminals normally are larger in diameter than the axon and have the appearance of a bud. This feature can be demonstrated by muscle biopsy. xref: UMLS:C4025615 is_a: HP:0000759 ! Abnormal peripheral nervous system morphology [Term] id: HP:0003444 name: EMG: chronic denervation signs alt_id: HP:0007059 def: "Evidence of chronic denervation on electromyography." [HPO:probinson] comment: This is a bundled term that is kept for convenience. It is preferable to annotate the precise clinical abnormalities observed. xref: UMLS:C4025614 is_a: HP:0003445 ! EMG: neuropathic changes [Term] id: HP:0003445 name: EMG: neuropathic changes alt_id: HP:0002178 alt_id: HP:0002547 alt_id: HP:0007279 def: "The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials)." [HPO:probinson] comment: This is a bundled term. It is preferable to annotate the precise clinical observations, but the term is kept now for convenience. synonym: "EMG: neurogenic abnormalities" EXACT [] synonym: "EMG: neurogenic changes" EXACT [] synonym: "EMG: neurogenic findings" EXACT [] xref: UMLS:C4021727 is_a: HP:0003457 ! EMG abnormality [Term] id: HP:0003447 name: Axonal loss alt_id: HP:0003360 def: "A reduction in the number of axons in the peripheral nervous system." [DDD:probinson] comment: This finding can be observed upon nerve biopsy. xref: UMLS:C1832338 is_a: HP:0000764 ! Peripheral axonal degeneration [Term] id: HP:0003448 name: Decreased sensory nerve conduction velocity alt_id: HP:0006914 def: "Reduced speed of conduction of the action potential along a sensory nerve." [HPO:probinson] comment: The sensory nerve action potential (SNAP) in response to electrical stimulation is recorded from the nerve itself by means of dermal recording electrodes. The SNAP is the sum of all the action potentials generated in sensory nerve fibres by the applied electrical impulse. synonym: "Decreased sensory NCV" EXACT [] synonym: "Decreased sensory nerve conduction velocities" EXACT [] xref: UMLS:C1849148 is_a: HP:0000762 ! Decreased nerve conduction velocity is_a: HP:0040132 ! Abnormal sensory nerve conduction velocity [Term] id: HP:0003449 name: Cold-induced muscle cramps def: "Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures." [HPO:probinson] xref: UMLS:C1861675 is_a: HP:0003394 ! Muscle spasm [Term] id: HP:0003450 name: Axonal regeneration def: "The presence of axonal regeneration following a previous axonal lesion." [HPO:probinson] comment: This finding is typically demonstrated by nerve biopsy. See the comment of term HP:0003378 for further information. synonym: "Regenerative activity on nerve biopsy" EXACT [] xref: UMLS:C1854454 is_a: HP:0000764 ! Peripheral axonal degeneration [Term] id: HP:0003451 name: Increased rate of premature chromosome condensation def: "An increased rate of premature chromosome condensation." [HPO:probinson] xref: UMLS:C4025613 is_a: HP:0011019 ! Abnormality of chromosome condensation [Term] id: HP:0003452 name: Increased serum iron xref: SNOMEDCT_US:165624002 xref: UMLS:C0151900 is_a: HP:0040130 ! Abnormal serum iron concentration [Term] id: HP:0003453 name: Antineutrophil antibody positivity def: "The presence of autoantibodies in the serum that react against neutrophils." [HPO:probinson] comment: Circulating serum antibodies are measured by flow cytometry after incubation with normal neutrophils. Values greater than 2 standard deviations of a normal control population are interpreted as weakly positive and greater than 3 standard deviations as positive. synonym: "Antineutrophil antibodies" EXACT [] synonym: "Neutrophil antibody positive" EXACT [] xref: UMLS:C1858981 is_a: HP:0030057 ! Autoimmune antibody positivity [Term] id: HP:0003454 name: Platelet antibody positive def: "The presence in the serum of autoantibodies directed against thrombocytes." [HPO:probinson] synonym: "Platelet antibody" EXACT [] xref: UMLS:C1858980 is_a: HP:0030057 ! Autoimmune antibody positivity [Term] id: HP:0003455 name: Elevated circulating long chain fatty acid concentration alt_id: HP:0008333 alt_id: HP:0045016 def: "Increased concentration of long-chain fatty acids in the blood circulation." [HPO:probinson] comment: This feature can be measured in plasma, as well as in cultured fibroblasts of amniocytes. synonym: "Elevated long chain fatty acids" EXACT [] synonym: "Elevated serum long-chain fatty acids" EXACT [] synonym: "Increased serum long-chain fatty acids" EXACT [] xref: UMLS:C1859241 is_a: HP:0010964 ! Abnormal circulating long-chain fatty-acid concentration [Term] id: HP:0003456 name: Low urinary cyclic AMP response to PTH administration xref: UMLS:C1864105 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003457 name: EMG abnormality alt_id: HP:0002177 alt_id: HP:0003751 alt_id: HP:0003753 alt_id: HP:0100286 def: "Abnormal results of investigations using electromyography (EMG)." [HPO:probinson, pmid:18751841] synonym: "Abnormal electromyography finding" EXACT [] synonym: "Abnormal EMG" EXACT [] synonym: "Electromyogram abnormal" EXACT [] synonym: "EMG abnormalities" EXACT [] xref: SNOMEDCT_US:274523007 xref: UMLS:C0476403 is_a: HP:0011804 ! Abnormal muscle physiology [Term] id: HP:0003458 name: EMG: myopathic abnormalities alt_id: HP:0003322 alt_id: HP:0003711 alt_id: HP:0009021 def: "The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials." [HPO:curators] synonym: "EMG: myopathic changes" EXACT [] synonym: "EMG: myopathy" EXACT [] synonym: "Myopathic electromyogram" EXACT [] xref: UMLS:C4021726 is_a: HP:0003198 ! Myopathy is_a: HP:0003457 ! EMG abnormality [Term] id: HP:0003459 name: Polyclonal elevation of IgM def: "A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis." [PMID:11508831] xref: UMLS:C4025612 is_a: HP:0003496 ! Increased circulating IgM level [Term] id: HP:0003460 name: Decreased circulating total IgA def: "Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L)." [HPO:probinson] synonym: "Decreased total IgA in blood" EXACT [] synonym: "Total immunoglobulin A deficiency" EXACT [] xref: UMLS:C4025611 is_a: HP:0002720 ! Decreased circulating IgA level [Term] id: HP:0003461 name: Increased urinary O-linked sialopeptides def: "Excretion of peptides conjugated to sialic acid in the urine." [HPO:probinson] xref: UMLS:C1836533 is_a: HP:0012067 ! Glycopeptiduria [Term] id: HP:0003462 name: Elevated 8-dehydrocholesterol xref: UMLS:C1840013 is_a: HP:0003107 ! Abnormal circulating cholesterol concentration [Term] id: HP:0003463 name: Increased extraneuronal autofluorescent lipopigment def: "Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient." [HPO:probinson, pmid:11406682] synonym: "Lipopigment in extraneuronal cells" RELATED [] xref: UMLS:C1859828 is_a: HP:0011813 ! Increased cerebral lipofuscin [Term] id: HP:0003464 name: obsolete Abnormal cholesterol homeostasis is_obsolete: true replaced_by: HP:0003107 [Term] id: HP:0003465 name: Elevated 8(9)-cholestenol xref: UMLS:C1840014 is_a: HP:0003107 ! Abnormal circulating cholesterol concentration [Term] id: HP:0003466 name: Paradoxical increased cortisol secretion on dexamethasone suppression test xref: UMLS:C1968855 is_a: HP:0011731 ! Abnormality of circulating cortisol level [Term] id: HP:0003467 name: Atlantoaxial instability def: "Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly." [HPO:probinson] comment: Neurological deficits ensue if the odontoid process, or posterior arch of the atlas, impinges on the spinal cord. subset: hposlim_core xref: SNOMEDCT_US:202820009 xref: UMLS:C0410653 is_a: HP:0003413 ! Atlantoaxial abnormality [Term] id: HP:0003468 name: Abnormal vertebral morphology alt_id: HP:0005719 def: "An abnormality of one or more of the vertebrae." [HPO:probinson] comment: A vertebra is one of 33 bony segments that form the spinal column of humans. There are 7 cervical, 12 thoracic, 5 lumbar, 5 sacral and 4 coccygeal vertebrae (the coccygeal vertebrae are fused into one coccyx bone). synonym: "Abnormal vertebrae" EXACT [] synonym: "Abnormal vertebral bodies" RELATED [] synonym: "Abnormality of the vertebrae" EXACT [] synonym: "Multiple vertebral anomalies" RELATED [HPO:skoehler] synonym: "Vertebral anomalies" EXACT [] xref: Fyler:4108 xref: SNOMEDCT_US:205043005 xref: SNOMEDCT_US:74877002 xref: UMLS:C0158775 xref: UMLS:C4020839 xref: UMLS:C4020840 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003469 name: Peripheral dysmyelination def: "Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination." [HPO:probinson] xref: UMLS:C4025610 is_a: HP:0003130 ! Abnormal peripheral myelination [Term] id: HP:0003470 name: Paralysis def: "Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement." [HPO:curators] synonym: "Inability to move" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Paralysis" EXACT layperson [] xref: MSH:D010243 xref: SNOMEDCT_US:44695005 xref: UMLS:C0522224 is_a: HP:0011442 ! Abnormality of central motor function [Term] id: HP:0003472 name: Hypocalcemic tetany def: "Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms." [HPO:probinson] xref: SNOMEDCT_US:190869004 xref: UMLS:C0151940 is_a: HP:0002901 ! Hypocalcemia is_a: HP:0012638 ! Abnormality of nervous system physiology [Term] id: HP:0003473 name: Fatigable weakness alt_id: HP:0003399 alt_id: HP:0003428 alt_id: HP:0100794 def: "A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [HPO:probinson] comment: This type of weakness is pathognomonic for an abnormality of the neuromuscular junction such as myasthenia gravis. A characteristic form of muscular weakness that worsens after use of affected muscles. Myasthenia is caused by failure of neuromuscular transmission, which results from the binding of autoantibodies to proteins involved in signaling at the neuromuscular junction, including especially the nicotinic acetyl choline receptor (AChR) or, less frequently, a muscle-specific tyrosine kinase involved in AChR clustering. synonym: "Fatigable weakness of limb muscles" EXACT [] synonym: "Generalized muscle weakness due to defect at the neuromuscular junction" EXACT [] synonym: "Myasthenia" EXACT [] synonym: "Myasthenic weakness" EXACT [] synonym: "Proximal muscle weakness due to defect at the neuromuscular junction" EXACT [] xref: UMLS:C0947912 is_a: HP:0001324 ! Muscle weakness is_a: HP:0003398 ! Abnormal synaptic transmission at the neuromuscular junction [Term] id: HP:0003474 name: Sensory impairment alt_id: HP:0100964 def: "An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing." [HPO:probinson] comment: This term does not include abnormalities of cortical sensation such as two-point discrimination, stereognosis, and graphesthesia. synonym: "Hypoaesthesia" EXACT [] synonym: "Hypoesthesia" EXACT [] xref: MSH:D006987 xref: SNOMEDCT_US:397974008 xref: SNOMEDCT_US:398026008 xref: SNOMEDCT_US:59073000 xref: UMLS:C0020580 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0003477 name: Peripheral axonal neuropathy alt_id: HP:0006814 alt_id: HP:0006842 alt_id: HP:0007169 alt_id: HP:0008304 def: "An abnormality characterized by disruption of the normal functioning of peripheral axons." [HPO:probinson] comment: This abnormality can be assay by electromyography (EMG) or by nerve biopsy. synonym: "Axonal neuropathy" EXACT [] synonym: "Axonal peripheral neuropathy" EXACT [] xref: SNOMEDCT_US:128208007 xref: SNOMEDCT_US:60703000 xref: UMLS:C0270921 xref: UMLS:C1263857 is_a: HP:0000764 ! Peripheral axonal degeneration is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0003481 name: Segmental peripheral demyelination/remyelination alt_id: HP:0003425 def: "A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves." [HPO:probinson] synonym: "Segmental demyelination/remyelination" EXACT [] xref: UMLS:C1843077 is_a: HP:0011096 ! Peripheral demyelination [Term] id: HP:0003482 name: EMG: axonal abnormality def: "Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials." [HPO:probinson] comment: This is a bundled term that is kept for convenience. It is preferable to record the precise clinical observations. xref: UMLS:C4025609 is_a: HP:0003457 ! EMG abnormality [Term] id: HP:0003484 name: Upper limb muscle weakness def: "Weakness of the muscles of the arms." [HPO:probinson] synonym: "Decreased arm strength" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Weak arm" EXACT layperson [ORCID:0000-0002-6548-5200] xref: SNOMEDCT_US:713512009 xref: UMLS:C1698196 is_a: HP:0003690 ! Limb muscle weakness [Term] id: HP:0003487 name: Babinski sign alt_id: HP:0001352 def: "Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract." [HPO:curators] comment: A positive Babinski sign can indicate damage to the corticospinal tract. synonym: "Extensor plantar reflexes" EXACT [] synonym: "Extensor plantar response" EXACT [] synonym: "Extensor plantar responses" EXACT [] xref: SNOMEDCT_US:246586009 xref: SNOMEDCT_US:366575004 xref: UMLS:C0034935 is_a: HP:0007256 ! Abnormal pyramidal sign is_a: HP:0031828 ! Abnormal superficial reflex [Term] id: HP:0003489 name: Acute episodes of neuropathic symptoms comment: Neuropathic symptoms include numbness, dysesthesias, and a characteristic form of pain (neuralgia). xref: UMLS:C1867971 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0003490 name: obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA is_obsolete: true replaced_by: HP:0003150 [Term] id: HP:0003491 name: Elevated urine pyrophosphate def: "An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate." [HPO:probinson] xref: UMLS:C4025607 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003492 name: High urinary gonadotropin level def: "An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism." [] comment: 'has part' some \n('increased amount' and ('inheres in' some \n('Gonadotropin (adult human)' and ('part of' some urine))) and ('has modifier' some abnormal)) xref: UMLS:C4025606 is_a: HP:0012029 ! Abnormal urine hormone level [Term] id: HP:0003493 name: Antinuclear antibody positivity def: "The presence of autoantibodies in the serum that react against nuclei or nuclear components." [HPO:probinson] comment: Antinuclear antibodies (ANAs) are found in patients with a number of different autoimmune diseases, such as systemic lupus erythematosus, Sjogren's syndrome, rheumatoid arthritis, polymyositis, scleroderma, Hashimoto's thyroiditis, juvenile diabetes mellitus, Addison disease, vitiligo, pernicious anemia, glomerulonephritis, and pulmonary fibrosis. ANAs can display various staining patterns such as homogeneous or diffuse; speckled; nucleolar; and peripheral or rim. synonym: "Antinuclear antibodies" EXACT [] synonym: "Antinuclear antibody positive" EXACT [] synonym: "Elevated antinuclear antibody" EXACT [] synonym: "Serum antinuclear antibody" EXACT [] xref: SNOMEDCT_US:165850001 xref: UMLS:C0151480 is_a: HP:0030057 ! Autoimmune antibody positivity [Term] id: HP:0003494 name: obsolete Loss of heterozygosity, multiple chromosomes is_obsolete: true consider: HP:0001428 [Term] id: HP:0003495 name: GM2-ganglioside accumulation def: "Cellular accumulation of GM2 gangliosides." [PMID:30524313] comment: Gangliosides are the main glycolipids of neuronal cell plasma membranes which ensure normal cellular activities. GM2-gangliosidosis can be caused by mutations in three genes: HEXA, HEXB, and GM2A. In patients with HexA deficiency GM2 ganglioside accumulates inside lysosomes, which form characteristic inclusions within the cells, so called membranous cytoplasmic bodies, which are enlarged lysosomes filled with gangliosides. The highest concentration of GM2 ganglioside is found in neuronal cells, therefore, the HexA deficiency primarily affects the nervous system, causing mental and motor developmental delay in patients. Later, progressive destruction of neurons, proliferation of microglia and accumulation of complex lipids in macrophages are observed in the brain tissue. xref: UMLS:C1848920 is_a: HP:0004345 ! Ganglioside accumulation [Term] id: HP:0003496 name: Increased circulating IgM level alt_id: HP:0002962 def: "An abnormally increased level of immunoglobulin M in blood." [HPO:probinson] synonym: "Increased IgM levels" EXACT [] synonym: "Increased levels of IgM" EXACT [] xref: UMLS:C1839972 is_a: HP:0010702 ! Increased antibody level in blood is_a: HP:0410243 ! Abnormal IgM level [Term] id: HP:0003498 name: Disproportionate short stature alt_id: HP:0008895 alt_id: HP:0008900 def: "A kind of short stature in which different regions of the body are shortened to differing extents." [HPO:probinson] synonym: "Short stature, disproportionate" EXACT [] synonym: "Short stature, severe disproportionate" RELATED [HPO:skoehler] xref: UMLS:C0878659 xref: UMLS:C1846797 is_a: HP:0004322 ! Short stature [Term] id: HP:0003502 name: Mild short stature alt_id: HP:0003503 alt_id: HP:0008879 alt_id: HP:0008908 def: "A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex." [DDD:hfirth] synonym: "Relative short stature" RELATED [] synonym: "short stature, mild" EXACT [HPO:skoehler] xref: UMLS:C3150077 xref: UMLS:C4020838 is_a: HP:0003508 ! Proportionate short stature [Term] id: HP:0003508 name: Proportionate short stature alt_id: HP:0003499 def: "A kind of short stature in which different regions of the body are shortened to a comparable extent." [HPO:probinson] synonym: "Proportionate small stature" EXACT [] synonym: "Short stature, proportionate" EXACT [] xref: UMLS:C0878660 is_a: HP:0004322 ! Short stature [Term] id: HP:0003510 name: Severe short stature alt_id: HP:0001424 alt_id: HP:0001516 alt_id: HP:0003504 alt_id: HP:0008867 alt_id: HP:0008884 alt_id: HP:0008907 alt_id: HP:0008920 alt_id: HP:0008930 def: "A severe degree of short stature, more than -4 SD from the mean corrected for age and sex." [HPO:probinson] comment: The term severe short stature is to be preferred over dwarfism, which has been used in the past to refer to individuals with an adult height under 4 feet 10 inches (147 cm). synonym: "Dwarfism" EXACT layperson [] synonym: "Proportionate dwarfism" EXACT layperson [] synonym: "Severe short stature" EXACT layperson [] synonym: "Short stature, extreme" EXACT [HPO:skoehler] synonym: "Short stature, severe" EXACT layperson [HPO:skoehler] xref: MSH:D004392 xref: SNOMEDCT_US:237836003 xref: SNOMEDCT_US:237837007 xref: SNOMEDCT_US:422065006 xref: UMLS:C0013336 is_a: HP:0003508 ! Proportionate short stature [Term] id: HP:0003513 name: Reduced ratio of renal calcium clearance to creatinine clearance def: "A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01." [HPO:probinson] synonym: "Reduced ration of kidney calcium clearance to creatinine clearance" EXACT layperson [https://orcid.org/0000-0001-7941-2961] synonym: "Reduced ration of renal Ca clearance to creatinine clearance" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] synonym: "Reduced ration of renal Ca2+ to creatinine clearance" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] xref: UMLS:C4025605 is_a: HP:0011280 ! Abnormality of urine calcium concentration [Term] id: HP:0003514 name: Deficiency or absence of cytochrome b(-245) synonym: "Deficiency or absence of cytochrome b" EXACT [] xref: UMLS:C1844390 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0003517 name: Birth length greater than 97th percentile xref: UMLS:C1839271 is_a: HP:0000098 ! Tall stature [Term] id: HP:0003521 name: Disproportionate short-trunk short stature alt_id: HP:0001524 alt_id: HP:0003500 alt_id: HP:0008923 def: "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs." [HPO:probinson] synonym: "Disproportionate short-trunked dwarfism" EXACT layperson [] synonym: "Disproportionate short-trunked short stature" EXACT layperson [] synonym: "Short-trunked dwarfism" EXACT layperson [] xref: UMLS:C1846435 is_a: HP:0003498 ! Disproportionate short stature is_a: HP:0009121 ! Abnormal axial skeleton morphology [Term] id: HP:0003524 name: Decreased methionine synthase activity def: "A reduction in methionine synthase activity." [HPO:probins] comment: Cobalamin-dependent methionine synthase catalyzes the transfer of a methyl group from N5-methyltetrahydrofolate to homocysteine, producing tetrahydrofolate and methionine, i.e., (6S)-5-methyl-5,6,7,8-tetrahydrofolate + L-homocysteine = (6S)-5,6,7,8-tetrahydrofolate + L-methionine. synonym: "Decreased activity of methionine synthase" EXACT [] synonym: "Methionine synthase activity decreased" EXACT [] synonym: "Methionine synthase deficiency" EXACT [] synonym: "Reduced methionine synthase activity" EXACT [] xref: UMLS:C1848580 is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity [Term] id: HP:0003526 name: Orotic acid crystalluria def: "Formation of crystals owing to an increased concentration of orotic acid in the urine." [HPO:probinson] xref: UMLS:C3278626 is_a: HP:0020074 ! Crystalluria [Term] id: HP:0003527 name: Hyperprostaglandinuria def: "An increased concentration of prostaglandin in the urine." [HPO:probinson] synonym: "High urine prostaglandin levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1866498 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003528 name: Elevated calcitonin comment: Calcitonin is a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid. It acts to reduce blood calcium (Ca2+), opposing the effects of parathyroid hormone. synonym: "Elevated calcitonin" EXACT layperson [] xref: UMLS:C1868394 is_a: HP:0100530 ! Abnormal calcium-phosphate regulating hormone level [Term] id: HP:0003529 name: Parathormone-independent increased renal tubular calcium reabsorption def: "An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels." [HPO:probinson, pmid:23802516] comment: This feature is seen with familial hypocalciuric hypercalcemia. This disease has three known genetic etiologies, in type 1 there is a loss of function mutation in the calcium-sensing receptor (encoded by CASR), in type 2 there is a gain of function mutation in GNA11, which is involved in calcium-sensing receptor signaling, and in type 3 there is a mutation in AP2S1, which encodes the adaptor-related protein complex 2, sigma 1 subunit, which alters calcium-sensing receptor endocytosis. synonym: "Parathormone-independent increased renal tubular Ca reabsorption" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] synonym: "Parathormone-independent increased renal tubular Ca2+ reabsorption" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] xref: UMLS:C4025604 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003530 name: Glutaric acidemia def: "An increased concentration of glutaric acid in the blood." [HPO:gcarletti] synonym: "Glutarate acidemia" EXACT [https://orcid.org/0000-0001-9969-8610] xref: UMLS:C4025603 is_a: HP:0010995 ! Abnormal circulating dicarboxylic acid concentration is_a: HP:0032368 ! Acidemia [Term] id: HP:0003532 name: Ornithinuria def: "An increased concentration of ornithine in the urine." [HPO:probinson] xref: UMLS:C4025602 is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0003533 name: Reduced acetaldehyde dehydrogenase activity def: "Decreased activity of acetaldehyde dehydrogenase (ADH). ADH and alcohol dehydrogenase (ALDH) are the primary enzymes involved in alcohol metabolism." [PMID:17718394] comment: In the liver, alcohol dehydrogenase converts ethanol into acetaldehyde, which is then converted into acetic acid by acetaldehyde dehydrogenase. synonym: "Delayed oxidation of acetaldehyde" EXACT [] xref: UMLS:C4025601 is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity [Term] id: HP:0003534 name: Reduced xanthine dehydrogenase activity def: "An abnormal reduction in xanthine dehydrogenase activity." [HPO:probinson] comment: This enzyme is on the purine degradation pathway and catalzyes the reaction xanthine + NAD+ + H2O = urate + NADH + H+. synonym: "Xanthine dehydrogenase deficiency" RELATED [] xref: MSH:C562584 xref: SNOMEDCT_US:124147007 xref: SNOMEDCT_US:72682008 xref: UMLS:C0268118 xref: UMLS:C4025600 is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity [Term] id: HP:0003535 name: 3-Methylglutaconic aciduria comment: 3-methylglutaconic aciduria describes five different disorders that impair mitochondrial function and resulting in buildup of 3-methylglutaconic acid and 3-methylglutaric acid and consequent increased excretion in the urine. xref: MSH:C579867 xref: SNOMEDCT_US:237950009 xref: UMLS:C3696376 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0003536 name: Decreased fumarate hydratase activity def: "An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity." [HPO:probinson] comment: Fumarate hydratase belongs to the tricarboxylic acid (Krebs) cycle. It catalyzes the conversion of fumarate to malate. xref: UMLS:C1853903 is_a: HP:0000816 ! Abnormality of Krebs cycle metabolism [Term] id: HP:0003537 name: Hypouricemia def: "An abnormally low level of uric acid in the blood." [HPO:curators] synonym: "Low blood uric acid levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:4519003 xref: UMLS:C0221333 is_a: HP:0002157 ! Azotemia is_a: HP:0004369 ! Decreased purine level [Term] id: HP:0003538 name: Increased serum iduronate sulfatase activity def: "An increased rate of iduronate-2-sulfatase activity in the blood." [HPO:probinson] comment: Iduronate-2-sulfatase is required for the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this X-chromosome gene are associated with Mucopolysaccharidosis Type II. Increased serum iduronate-2-sulfatase is observed in mucolipidosis II alpha/beta. synonym: "Increased serum iduronate sulfatase" RELATED [] xref: UMLS:C2673363 xref: UMLS:C4025599 is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity [Term] id: HP:0003540 name: Impaired platelet aggregation alt_id: HP:0008177 def: "An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent." [DDD:wouwehand] synonym: "Defective platelet aggregation" EXACT [] synonym: "Deficient platelet aggregation" EXACT [] synonym: "Platelet aggregation defect" EXACT [] xref: UMLS:C1855853 is_a: HP:0030402 ! Abnormal platelet aggregation [Term] id: HP:0003541 name: Urinary glycosaminoglycan excretion def: "Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit." [HPO:probinson] xref: UMLS:C4025598 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003542 name: Increased serum pyruvate def: "An increased concentration of pyruvate in the blood." [HPO:gcarletti] comment: An abnormal increase in the concentration of pyruvate in the blood. Pyruvate is involved in energy metabolism, forming part of glycolysis and the citric acid cycle. synonym: "Increased serum pyruvic acid" EXACT [] xref: UMLS:C1849488 is_a: HP:0004366 ! Abnormality of glycolysis [Term] id: HP:0003546 name: Exercise intolerance def: "A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender." [PMID:10617757] synonym: "Decreased ability to exercise" EXACT layperson [https://orcid.org/0000-0002-6548-5200, PMID:10617757] synonym: "Inability to exercise" EXACT layperson [https://orcid.org/0000-0002-6548-5200, PMID:10617757] synonym: "Poor exercise tolerance" EXACT [] xref: SNOMEDCT_US:267044007 xref: UMLS:C0424551 is_a: HP:0004302 ! Functional motor deficit [Term] id: HP:0003547 name: Shoulder girdle muscle weakness alt_id: HP:0003695 alt_id: HP:0009009 def: "The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders." [HPO:curators] synonym: "Muscle weakness, shoulder-girdle" EXACT [] synonym: "Shoulder girdle weakness" EXACT [] synonym: "Shoulder weakness" EXACT [] synonym: "Weak shoulder muscles" EXACT layperson [ORCID:0000-0002-6548-5200] xref: SNOMEDCT_US:249940002 xref: UMLS:C0427063 xref: UMLS:C0748691 is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature is_a: HP:0003325 ! Limb-girdle muscle weakness [Term] id: HP:0003548 name: Subsarcolemmal accumulations of abnormally shaped mitochondria def: "An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology." [HPO:probinson] comment: This finding can be demonstrated by electron microscopy. This finding is typical of mitochondrial myopathies. xref: UMLS:C4025597 is_a: HP:0003800 ! Muscle abnormality related to mitochondrial dysfunction [Term] id: HP:0003549 name: Abnormality of connective tissue def: "Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat)." [HPO:curators] xref: UMLS:C4025596 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0003550 name: Predominantly lower limb lymphedema def: "Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs." [HPO:probinson] xref: UMLS:C1835228 is_a: HP:0001004 ! Lymphedema [Term] id: HP:0003551 name: Difficulty climbing stairs alt_id: HP:0007019 def: "Reduced ability to climb stairs." [HPO:probinson] synonym: "Difficulty walking up stairs" EXACT layperson [] xref: SNOMEDCT_US:282195009 xref: UMLS:C0239067 is_a: HP:0004302 ! Functional motor deficit [Term] id: HP:0003552 name: Muscle stiffness alt_id: HP:0009014 def: "A condition in which muscles cannot be moved quickly without accompanying pain or spasm." [HPO:probinson] xref: SNOMEDCT_US:16046003 xref: UMLS:C0221170 is_a: HP:0011804 ! Abnormal muscle physiology [Term] id: HP:0003553 name: obsolete Cellulitis due to immunodeficiency is_obsolete: true replaced_by: HP:0100658 [Term] id: HP:0003554 name: Type 2 muscle fiber atrophy def: "Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy." [HPO:probinson] comment: This finding can be demonstrated by muscle biopsy. synonym: "Type 2 fiber atrophy" EXACT [] xref: UMLS:C1864580 is_a: HP:0100295 ! Muscle fiber atrophy [Term] id: HP:0003555 name: Muscle fiber splitting def: "Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches." [pmid:6123177] synonym: "Fiber splitting" EXACT [] synonym: "Fibre splitting" EXACT [] synonym: "Muscle fibre splitting" EXACT [] xref: UMLS:C1836057 is_a: HP:0004303 ! Abnormal muscle fiber morphology [Term] id: HP:0003557 name: Increased variability in muscle fiber diameter alt_id: HP:0003556 def: "An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy." [HPO:curators] comment: This finding can be demonstrated by muscle biopsy. synonym: "Increased fiber size variation" EXACT [] synonym: "Increased variability in muscle fiber size" EXACT [] synonym: "Increased variation in fiber size" EXACT [] synonym: "Increased variation in muscle fiber size" EXACT [] synonym: "Variation in muscle fiber size" EXACT [] xref: UMLS:C1843700 is_a: HP:0012084 ! Abnormality of skeletal muscle fiber size [Term] id: HP:0003558 name: Viral infection-induced rhabdomyolysis def: "Rhabdomyolysis induced by a viral infection." [HPO:probinson] xref: UMLS:C4025595 is_a: HP:0003201 ! Rhabdomyolysis [Term] id: HP:0003559 name: Muscle hyperirritability xref: UMLS:C1853701 is_a: HP:0011804 ! Abnormal muscle physiology [Term] id: HP:0003560 name: Muscular dystrophy alt_id: HP:0003544 alt_id: HP:0003806 def: "The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities." [HPO:probinson, Neuromics:vstraub] comment: Muscular dystrophy can be demonstrated by muscle biopsy. synonym: "Muscle biopsy shows dystrophic changes" RELATED [HPO:skoehler] xref: MSH:D009136 xref: SNOMEDCT_US:193225000 xref: SNOMEDCT_US:73297009 xref: UMLS:C0026850 xref: UMLS:C1864711 is_a: HP:0011805 ! Abnormal muscle morphology [Term] id: HP:0003561 name: Birth length less than 3rd percentile synonym: "Birth length < 3rd percentile" EXACT [] synonym: "Birth length <3rd percentile" EXACT [] xref: UMLS:C1855650 is_a: HP:0004322 ! Short stature [Term] id: HP:0003562 name: Abnormal metaphyseal vascular invasion xref: UMLS:C3277127 is_a: HP:0000944 ! Abnormality of the metaphysis [Term] id: HP:0003563 name: Decreased LDL cholesterol concentration def: "An decreased concentration of low-density lipoprotein cholesterol in the blood." [HPO:gcarletti] comment: Beta-lipoprotein cholesterol is a synonym for low-density lipoprotein (LDL) cholesterol. synonym: "Decreased circulating low-density lipoprotein levels" EXACT [] synonym: "Decreased LDL" RELATED HP:0045077 [] synonym: "Decreased LDLc concentration" EXACT HP:0045077 [] synonym: "Hypobetalipoproteinemia" EXACT [] xref: MSH:D006995 xref: SNOMEDCT_US:190786004 xref: UMLS:C0020597 xref: UMLS:C0853085 is_a: HP:0010981 ! Hypolipoproteinemia is_a: HP:0031886 ! Abnormal LDL cholesterol concentration [Term] id: HP:0003564 name: Folate-dependent fragile site at Xq28 def: "The presence of a folate sensitive fragile site at chromosome Xq28." [HPO:probinson] comment: Fragile sites can be defined as heritable specific loci on human chromosomes that exhibit non-random gaps, constrictions or breaks when chromosomes are exposed to specific cell culture conditions. Over 120 different fragile sites have been identified in the human genome. Some of these sites are sensitive to folate, that is, they can be induced by a culture medium deficient in folic acid and thymidine, and hence a medium with lowered levels of dTTP or dCTP, two immediate components of DNA, or by a medium enriched either in methotrexate, an inhibitor of folate metabolism, or in fluorodeoxyuridine, an inhibitor of thymidylate synthesis. The folate-dependent fragile phenotype occurs if more than a critical number of CCG/CGG repeats are present (e.g., > 230 repeats for FRAXA). xref: UMLS:C1839785 is_a: HP:0040012 ! Chromosome breakage [Term] id: HP:0003565 name: Elevated erythrocyte sedimentation rate def: "An increased erythrocyte sedimentation rate (ESR). The ESR a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen." [PMID:10524488] synonym: "Elevated ESR" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] synonym: "Elevated sedimentation rate" EXACT [] synonym: "High erythrocyte sedimentation rate" EXACT [] synonym: "High ESR" EXACT layperson [] synonym: "Increased erythrocyte sedimentation rate" EXACT [] synonym: "Raised erythrocyte sedimentation rate" EXACT [] xref: SNOMEDCT_US:165468009 xref: UMLS:C0151632 is_a: HP:0025021 ! Abnormal erythrocyte sedimentation rate [Term] id: HP:0003566 name: Increased serum prostaglandin E2 alt_id: HP:0008298 def: "An increased concentration of prostaglandin E2 in the blood." [HPO:probinson] synonym: "Elevated prostaglandin E2" EXACT [] xref: UMLS:C3150358 is_a: HP:0011023 ! Abnormal circulating prostaglandin circulation [Term] id: HP:0003568 name: Decreased glucosephosphate isomerase activity alt_id: HP:0003290 def: "A decreased rate of glucose-6-phosphate isomerase activity." [HPO:gcarletti] comment: Deficiency of glucose-6-phosphate isomerase (EC 5.3.1.9). synonym: "Decreased glucose phosphate isomerase activity" EXACT [] synonym: "Glucosephosphate isomerase deficiency" EXACT [] synonym: "Phosphohexose isomerase deficiency" EXACT [] xref: SNOMEDCT_US:124669001 xref: UMLS:C1291611 is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity [Term] id: HP:0003570 name: Molybdenum cofactor deficiency def: "Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase." [HPO:probinson] xref: MSH:C535811 xref: SNOMEDCT_US:29692004 xref: UMLS:C0268119 is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity [Term] id: HP:0003571 name: Propionicacidemia xref: MSH:D056693 xref: SNOMEDCT_US:124718009 xref: SNOMEDCT_US:69080001 xref: UMLS:C0268579 is_a: HP:0032368 ! Acidemia [Term] id: HP:0003572 name: Low plasma citrulline def: "A decreased concentration of citrulline in the blood." [HPO:gcarletti] xref: UMLS:C1839532 is_a: HP:0011965 ! Abnormal circulating citrulline concentration [Term] id: HP:0003573 name: Increased total bilirubin alt_id: HP:0008168 def: "Increased concentration of total (conjugated and unconjugated) bilirubin in the blood." [HPO:probinson] synonym: "High bili total" EXACT layperson [] synonym: "Increased bilirubin" EXACT [] xref: SNOMEDCT_US:176271000119108 xref: UMLS:C0741494 is_a: HP:0002904 ! Hyperbilirubinemia [Term] id: HP:0003574 name: Positive regitine blocking test def: "A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension." [HPO:probinson] comment: Regitine produces an alpha-adrenergic block of relatively short duration. In the regitine blocking test, regitine is injected rapidly and bood pressure is recorded immediately after injection, at 30-second intervals for the first 3 minutes, and at 60-second intervals for the next 7 minutes. A positive response to the reginitine blocking test is present when the blood pressure is reduced more than 35 mmHg systolic and 25 mmHg diastolic. A typical positive response is a reduction in pressure of 60 mmHg systolic and 25 mmHg diastolic. A positive response is suggestive of pheochromocytoma and should generally be confirmed by other diagnostic procedures such as measurement of urinary catecholamines or their metabolites. xref: UMLS:C4025594 is_a: HP:0002640 ! Hypertension associated with pheochromocytoma [Term] id: HP:0003575 name: Increased intracellular sodium def: "An abnormally increased sodium concentration in the cytosol." [HPO:gcarletti] synonym: "High intracellular Na" EXACT [] synonym: "Increased intracellular Na+ levels" EXACT [] xref: UMLS:C4025593 is_a: HP:0011017 ! Abnormal cellular physiology [Term] id: HP:0003577 name: Congenital onset alt_id: HP:0003595 alt_id: HP:0003601 alt_id: HP:0003624 alt_id: HP:0003660 alt_id: HP:0003666 def: "A phenotypic abnormality that is present at birth." [HPO:probinson] comment: Congenital onset literally means present at birth. Congenital abnormalities are thus generally acquired during fetal development. Congenital abnormalities are often but not always hereditary in nature. Whether a disease manifestation is diagnosed to be intrauterine or congenital may depend on the time at which diagnostic procedures are performed. Thus, most congenital abnormalities are also intrauterine. This term should be used for phenotypic abnormalities or diseases initially observed at the time of birth. For abnormalities observed prior to (e.g., by fetal ultrasound), use the term Antenatal onset (HP:0030674). synonym: "Intrauterine onset" EXACT [] synonym: "Onset at birth" EXACT [] synonym: "Onset in utero" EXACT [] synonym: "Prenatal onset" RELATED [HPO:curators] synonym: "Symptoms present at birth" EXACT layperson [orcid.org/0000-0002-6548-5200] xref: UMLS:C1836142 xref: UMLS:C2752013 is_a: HP:0003674 ! Onset [Term] id: HP:0003581 name: Adult onset alt_id: HP:0003585 alt_id: HP:0003598 alt_id: HP:0003627 alt_id: HP:0003662 alt_id: HP:0003669 def: "Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later." [HPO:probinson] synonym: "Onset in adulthood" EXACT [] synonym: "Onset in early adulthood" EXACT [] synonym: "Symptoms begin in adulthood" EXACT layperson [orcid.org/0000-0002-6548-5200] xref: UMLS:C1853562 is_a: HP:0003674 ! Onset [Term] id: HP:0003584 name: Late onset def: "A type of adult onset with onset of symptoms after the age of 60 years." [HPO:probinson] xref: UMLS:C4025592 is_a: HP:0003581 ! Adult onset [Term] id: HP:0003587 name: Insidious onset def: "Gradual, very slow onset of disease manifestations." [HPO:probinson] synonym: "Gradual onset" EXACT layperson [] xref: SNOMEDCT_US:367326009 xref: SNOMEDCT_US:61751001 xref: UMLS:C0332164 xref: UMLS:C1298634 is_a: HP:0011008 ! Temporal pattern [Term] id: HP:0003593 name: Infantile onset alt_id: HP:0003576 alt_id: HP:0003579 alt_id: HP:0003591 alt_id: HP:0003594 alt_id: HP:0003599 alt_id: HP:0003600 alt_id: HP:0003629 alt_id: HP:0003631 alt_id: HP:0003667 alt_id: HP:0003672 alt_id: HP:0010573 def: "Onset of signs or symptoms of disease between 28 days to one year of life." [HPO:probinson] comment: Onset of signs or symptoms of disease within the first 12 months of life. synonym: "Infantile onset" EXACT layperson [] synonym: "Onset in first year of life" EXACT layperson [] synonym: "Onset in infancy" EXACT layperson [] xref: UMLS:C1848924 is_a: HP:0410280 ! Pediatric onset [Term] id: HP:0003596 name: Middle age onset def: "A type of adult onset with onset of symptoms at the age of 40 to 60 years." [HPO:probinson] comment: Middle age is of course not amenable to precise definitions. We suggest using this term for onset of disease symptoms between the age of 40 and 60 years. xref: UMLS:C1969363 is_a: HP:0003581 ! Adult onset [Term] id: HP:0003606 name: Absent urinary urothione def: "Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine." [HPO:probinson] comment: Urothione, a sulfur-containing pterin, is the normal metabolic degradation product of the molybdenum cofactor. xref: UMLS:C4025591 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003607 name: 4-Hydroxyphenylacetic aciduria def: "Increased concentration of 4-hydroxyphenylacetic acid in the urine." [HPO:probinson] comment: 4-Hydroxyphenylpyruvate dioxygenase participates in the tyrosine catabolic pathway by catalyzing the conversion of 4-hydroxyphenylpyruvate to homogentisate. A deficiency in this enzyme can result in 4-Hydroxyphenylacetic aciduria. xref: MSH:C535315 xref: UMLS:C1848680 is_a: HP:0040156 ! Elevated urinary carboxylic acid [Term] id: HP:0003609 name: Foam cells with lamellar inclusion bodies def: "The presence of foam cells that contain lamellar inclusion bodies." [HPO:probinson] comment: Foam cells with lamellar inclusion bodies are thought to be a hallmark of cellular phospholipidosis, i.e., of the excess accumulation of phospholipids. This abnormality can be assayed by electron microscopy. xref: UMLS:C4025590 is_a: HP:0003651 ! Foam cells [Term] id: HP:0003610 name: Fibroblast metachromasia def: "Increased cytoplasmic staining of fibroblasts with toluidine blue." [HPO:probinson, pmid:4195824] comment: Cultured fibroblasts from the genetic mucopolysaccharidoses store higher than normal amounts of glycosaminoglyeans. Histochemical stains such as toluidine blue and Alcian blue can be used to detect such intracellular glycosaminoglycans which, being negatively charged, are bound and precipitated by the cationic dyes. Cultured fibroblasts from homozygotes -and heterozygotes for the genetic mucopolysaccharidoses accumulate excessive quantities of glycosaminoglycans. The cytoplasmic staining with toluidine blue is referred to as metachromasia (pink) and orthochromasia (blue) and that with Alcian blue as alcianophilia. xref: UMLS:C1835008 is_a: HP:0003653 ! Cellular metachromasia [Term] id: HP:0003612 name: Positive ferric chloride test def: "If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood." [HPO:probinson] comment: The ferric chloride test indicates presence of high levels of phenylpyruvate in urine, because ferric ion forms a blue-green colored complex with phenylpyruvate. Some other compounds can also lead to a positive ferric chloride test. The ferric chloride test is no longer used in modern clinical practice, but this term is kept for historical reasons. The urine phenylpyruvate concentration is elevanted in phenylketonuria. synonym: "Positive FeCl3 test" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] xref: UMLS:C4025589 is_a: HP:0010893 ! Abnormal circulating phenylalanine concentration [Term] id: HP:0003613 name: Antiphospholipid antibody positivity def: "The presence of circulating autoantibodies to phospholipids." [HPO:probinson] comment: This group of autoantibodies comprises anticardiolipin, antiphosphatidylinositol, atiphosphatidylglycerol, and antiphosphatidylserine antibodies. synonym: "Antiphospholipid antibodies" EXACT [] synonym: "Antiphospholipid antibody" EXACT [] synonym: "Phospholipid antibody positivity" EXACT [] xref: UMLS:C4019436 is_a: HP:0030057 ! Autoimmune antibody positivity [Term] id: HP:0003614 name: Trimethylaminuria def: "Increased concentration of trimethylamine in the urine." [HPO:probinson] comment: Increased concentration of trimethylamine, an organic amino compound with an oder characterized as that of rotting fish, in the urine. Trimethylaminuria is generally caused by impaired oxidation of trimethylamine into the odorless compound trimethylamine N-oxide. synonym: "High urine trimethylamine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:C536561 xref: SNOMEDCT_US:237959005 xref: UMLS:C0342739 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003616 name: Premature separation of centromeric heterochromatin xref: UMLS:C1849316 is_a: HP:0200024 ! Premature chromatid separation [Term] id: HP:0003621 name: Juvenile onset alt_id: HP:0003578 alt_id: HP:0003580 alt_id: HP:0003582 alt_id: HP:0003583 alt_id: HP:0003589 alt_id: HP:0003592 alt_id: HP:0003604 alt_id: HP:0003619 alt_id: HP:0003620 alt_id: HP:0003625 alt_id: HP:0003659 alt_id: HP:0003661 alt_id: HP:0003670 def: "Onset of signs or symptoms of disease between the age of 5 and 15 years." [HPO:probinson] synonym: "Signs and symptoms begin before 15 years of age" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: UMLS:C4025588 is_a: HP:0410280 ! Pediatric onset [Term] id: HP:0003623 name: Neonatal onset alt_id: HP:0003622 def: "Onset of signs or symptoms of disease within the first 28 days of life." [HPO:probinson] synonym: "Neonatal onset" EXACT layperson [] synonym: "Onset in first weeks of life" EXACT [] synonym: "Onset in neonatal period" EXACT [] xref: UMLS:C1855106 is_a: HP:0003674 ! Onset [Term] id: HP:0003634 name: Amyoplasia alt_id: HP:0008990 def: "Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue." [HPO:probinson, Neuromics:vstraub] synonym: "Absent muscles since birth" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Congenital absence of muscles" EXACT [] xref: SNOMEDCT_US:205532005 xref: UMLS:C0432185 is_a: HP:0100854 ! Aplasia of the musculature [Term] id: HP:0003635 name: Loss of subcutaneous adipose tissue in limbs alt_id: HP:0003757 def: "Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg." [HPO:probinson] subset: hposlim_core synonym: "Loss of fat tissue below the skin in limbs" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Loss of subcutaneous adipose tissue from extremities" EXACT [] xref: UMLS:C1837764 is_a: HP:0008887 ! Adipose tissue loss [Term] id: HP:0003637 name: Reduced 4-Hydroxyphenylpyruvate dioxygenase activity def: "An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase activity." [HPO:curators] comment: Note: 4-hydroxyphenylpyruvate dioxygenase corresponds to EC 1.13.11.27. 4-Hydroxyphenylpyruvate dioxygenase participates in the tyrosine catabolic pathway by catalyzing the conversion of 4-hydroxyphenylpyruvate to homogentisate. A deficiency in this enzyme can result in 4-Hydroxyphenylacetic aciduria. synonym: "Reducted HPPD activity" EXACT HP:0045077 [] xref: UMLS:C4025587 is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity [Term] id: HP:0003639 name: Elevated urinary epinephrine def: "An increased concentration of adrenaline in the urine." [HPO:probinson] synonym: "Increased urinary epinephrine" EXACT [] xref: UMLS:C1868393 is_a: HP:0011976 ! Elevated urinary catecholamines [Term] id: HP:0003640 name: Foam cells in visceral organs and CNS xref: UMLS:C1843373 is_a: HP:0003651 ! Foam cells [Term] id: HP:0003641 name: Hemoglobinuria def: "The presence of free hemoglobin in the urine." [HPO:probinson] comment: If, following hemolysis, haptoglobins (hemoglobin-binding proteins) are saturated, then free hemoglobin appears in the urine. synonym: "Hemoglobin in urine" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D006456 xref: SNOMEDCT_US:68600005 xref: UMLS:C0019048 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003642 name: Type I transferrin isoform profile def: "Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II." [HPO:probinson, pmid:15105360, pmid:22516080] comment: There are several methods in use with which this feature can be diagnosed. Using HPLC analysis an increased asialo- and disialotransferrin and reduced tetrasialotransferrin are observed. Using immunoaffinity column analysis, the mono-oligosaccharide/di-oligosaccharide transferrin ratio, and/or the a-oligosaccharide/di-oligosaccharide transferrin ratio are abnormal. synonym: "Abnormal isoelectric focusing of serum transferrin, type I pattern" EXACT [] synonym: "Isoelectric focusing of serum transferrin consistent with CDG type I" EXACT [] synonym: "Type 1 transferrin isoform profile" EXACT [] xref: UMLS:C1837899 is_a: HP:0003160 ! Abnormal isoelectric focusing of serum transferrin [Term] id: HP:0003643 name: Sulfite oxidase deficiency def: "Abnormally reduced sulfite oxidase activity." [HPO:probinson] comment: Sulfite oxidase is responsible for the oxidation of sulfite to sulfate and is the terminal enzyme in the oxidative degradation pathway of sulfur-containing amino acids. xref: MSH:C538141 xref: SNOMEDCT_US:367368009 xref: UMLS:C0268624 is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity [Term] id: HP:0003645 name: Prolonged partial thromboplastin time def: "Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms." [HPO:probinson] synonym: "Abnormal partial thromboplastin time" EXACT [] synonym: "Delayed thromboplastin generation" EXACT [] synonym: "Partial thromboplastin time prolonged" EXACT [] synonym: "Prolonged activated partial thromboplastin time" EXACT [] synonym: "Prolonged PTT" EXACT HP:0045077 [] xref: SNOMEDCT_US:409675001 xref: UMLS:C0240671 is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0003646 name: Bicarbonaturia def: "Abnormally increased concentration of hydrogencarbonate in the urine." [HPO:probinson] synonym: "Increased urine bicarbonate concentration" EXACT HP:0045077 [] synonym: "Increased urine HCO3 concentration" EXACT [] xref: UMLS:C1839865 is_a: HP:0011279 ! Abnormality of urine bicarbonate concentration [Term] id: HP:0003647 name: Electron transfer flavoprotein-ubiquinone oxidoreductase defect xref: UMLS:C4025586 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0003648 name: Lacticaciduria def: "An increased concentration of lactic acid in the urine." [HPO:probinson] synonym: "High urine lactic acid levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025585 is_a: HP:0012072 ! Aciduria [Term] id: HP:0003649 name: Abnormality of glycoside metabolism def: "Abnormality of glycoside metabolism." [HPO:probinson] comment: Glycosides are molecules with a suger moiety bound to some other moiety. xref: UMLS:C4025584 is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity created_by: peter creation_date: 2008-03-08T08:32:00Z [Term] id: HP:0003651 name: Foam cells alt_id: HP:0003650 def: "The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance." [HPO:probinson] comment: Foam cells may contain polymorphic cytoplasmic inclusions consisting of lamellar osmiophilic membranes on electron microscopy. synonym: "Foamy histiocytes" EXACT [] synonym: "Foamy macrophages" EXACT [] synonym: "Lipid-laden histiocytes" EXACT [] synonym: "Presence of foam cells" EXACT [] xref: MSH:D005487 xref: SNOMEDCT_US:16980002 xref: UMLS:C0016390 is_a: HP:0002621 ! Atherosclerosis [Term] id: HP:0003652 name: Recurrent myoglobinuria alt_id: HP:0008313 def: "Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue." [HPO:probinson] synonym: "Myoglobinuria, episodic" EXACT [] synonym: "Myoglobinuria, recurrent" EXACT [HPO:skoehler] xref: MSH:C564018 xref: UMLS:C1838877 is_a: HP:0002913 ! Myoglobinuria [Term] id: HP:0003653 name: Cellular metachromasia def: "Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans." [HPO:probinson, pmid:4195824] comment: This investigation is no longer in common use. xref: UMLS:C4025583 is_a: HP:0011020 ! Abnormality of mucopolysaccharide metabolism [Term] id: HP:0003654 name: Reduced dihydropyrimidine dehydrogenase activity def: "An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) activity." [HPO:gcarletti] comment: Pyrimidine 5-prime nucleotidase catalyzes the dephosphorylation of the pyrimidine 5-prime monophosphates to the corresponding nucleosides. synonym: "Dihydropyrimidine dehydrogenase deficiency" RELATED [] xref: MSH:D054067 xref: SNOMEDCT_US:77365006 xref: UMLS:C1959620 xref: UMLS:C4025582 is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity [Term] id: HP:0003655 name: Reduced activity of N-acetylglucosaminyltransferase II def: "An abnormality of glycoprotein metabolism related to a decreased rate of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity." [HPO:gcarletti] synonym: "Deficient N-acetylglucosaminyltransferase II" EXACT [] xref: UMLS:C4021725 is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity [Term] id: HP:0003656 name: Decreased beta-glucocerebrosidase activity def: "Reduced activity of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose." [] comment: An enzyme that hydrolyzes beta-glucosides in cerebrosides. synonym: "Decreased lysosomal acid glucosylceramidase activity" EXACT [] xref: UMLS:C1842710 is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity [Term] id: HP:0003657 name: Granular osmiophilic deposits (GROD) in cells xref: UMLS:C1859833 is_a: HP:0004356 ! Abnormality of lysosomal metabolism [Term] id: HP:0003658 name: Hypomethioninemia def: "A decreased concentration of methionine in the blood." [HPO:gcarletti] comment: Normal methionine blood levels are around 30 micromole per liter. synonym: "Decreased plasma methionine" EXACT layperson [] synonym: "Decreased serum methionine" EXACT layperson [] xref: UMLS:C1848555 is_a: HP:0010901 ! Abnormal circulating methionine concentration [Term] id: HP:0003665 name: Amyotrophy of the musculature of the pelvis def: "Muscular atrophy affecting the muscles of the pelvis." [HPO:curators] xref: UMLS:C4025581 is_a: HP:0008988 ! Pelvic girdle muscle atrophy created_by: peter creation_date: 2008-04-07T10:57:00Z [Term] id: HP:0003674 name: Onset alt_id: HP:0003588 alt_id: HP:0003590 alt_id: HP:0003597 alt_id: HP:0003602 alt_id: HP:0003603 alt_id: HP:0003618 alt_id: HP:0003626 alt_id: HP:0003628 alt_id: HP:0003630 alt_id: HP:0003663 alt_id: HP:0003664 alt_id: HP:0003668 alt_id: HP:0011007 def: "The age group in which disease manifestations appear." [HPO:probinson] comment: Adolescent is defined by WHO as a person between 10-19 years of age. synonym: "Age of onset" EXACT [] synonym: "Age symptoms begin" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:D017668 xref: UMLS:C0206132 is_a: HP:0031797 ! Clinical course [Term] id: HP:0003676 name: Progressive synonym: "Progressive disorder" RELATED [] synonym: "Worsens with time" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:252157006 xref: SNOMEDCT_US:255314001 xref: UMLS:C0205329 xref: UMLS:C1864985 is_a: HP:0003679 ! Pace of progression [Term] id: HP:0003677 name: Slow progression alt_id: HP:0003675 alt_id: HP:0003681 synonym: "Signs and symptoms worsen slowly with time" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Slow disease progression" EXACT [] synonym: "Slowly progressive" EXACT [] synonym: "Slowly progressive disorder" EXACT [] xref: UMLS:C1854494 is_a: HP:0003679 ! Pace of progression [Term] id: HP:0003678 name: Rapidly progressive synonym: "Rapid progression" EXACT [] synonym: "Rapidly progressive disorder" RELATED [HPO:skoehler] synonym: "Worsening quickly" EXACT layperson [ORCID:0000-0002-6548-5200] xref: UMLS:C1838681 xref: UMLS:C1850776 is_a: HP:0003679 ! Pace of progression [Term] id: HP:0003679 name: Pace of progression xref: UMLS:C4025580 is_a: HP:0031797 ! Clinical course [Term] id: HP:0003680 name: Nonprogressive alt_id: HP:0003685 synonym: "Does not worsen" EXACT [http://purl.obolibrary.org/obo/hp.owl#layperson, ORCID:0000-0002-6548-5200] synonym: "Non-progressive" EXACT [] synonym: "Nonprogressive course" EXACT [] synonym: "Nonprogressive disorder" EXACT [] synonym: "Stationary" EXACT [] xref: SNOMEDCT_US:702322003 xref: UMLS:C3839460 is_a: HP:0003679 ! Pace of progression [Term] id: HP:0003682 name: Variable progression rate xref: UMLS:C1970284 is_a: HP:0003679 ! Pace of progression [Term] id: HP:0003683 name: Large beaked nose synonym: "Large beaked nose" EXACT layperson [] xref: UMLS:C4025579 is_a: HP:0011119 ! Abnormality of the nasal dorsum [Term] id: HP:0003687 name: Centrally nucleated skeletal muscle fibers def: "An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells)." [HPO:probinson, PMID:20181480] comment: Normally, the nuclei of muscle cells are located peripherally, immediately under the plasma membrane (sarcolemma). synonym: "Central nuclei" EXACT [] synonym: "Centralized nuclei" EXACT [] synonym: "Centralized sarcomeric nuclei" EXACT [] xref: UMLS:C1842170 is_a: HP:0004303 ! Abnormal muscle fiber morphology [Term] id: HP:0003688 name: Cytochrome C oxidase-negative muscle fibers alt_id: HP:0003734 alt_id: HP:0009006 def: "An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue." [HPO:probinson] comment: This abnormality can be assayed by muscle biopsy. Cytochrome C oxidase is an enzyme of the respiratory electron transport chain of mitochondria that is located in the mitochondrial membrane. synonym: "Cytochrome c oxidase deficiency in skeletal muscle" EXACT [] synonym: "Decreased activity of cytochrome C oxidase in muscle tissue" EXACT [] synonym: "Decreased skeletal muscle cytochrome c oxidase activity" EXACT [] xref: UMLS:C4021724 is_a: HP:0003800 ! Muscle abnormality related to mitochondrial dysfunction [Term] id: HP:0003689 name: Multiple mitochondrial DNA deletions alt_id: HP:0003801 def: "The presence of multiple deletions of mitochondrial DNA (mtDNA)." [HPO:probinson] comment: This feature can be demonstrated by muscle biopsy. synonym: "Multiple mtDNA deletions" EXACT [] xref: UMLS:C3277376 is_a: HP:0009141 ! Depletion of mitochondrial DNA in muscle tissue [Term] id: HP:0003690 name: Limb muscle weakness alt_id: HP:0002534 def: "Reduced strength and weakness of the muscles of the arms and legs." [HPO:sdoelken] synonym: "Limb muscle weakness" EXACT layperson [] synonym: "Limb weakness" EXACT layperson [] xref: SNOMEDCT_US:713514005 xref: UMLS:C0587246 is_a: HP:0001324 ! Muscle weakness is_a: HP:0009127 ! Abnormality of the musculature of the limbs [Term] id: HP:0003691 name: Scapular winging alt_id: HP:0000783 def: "Abnormal protrusion of the scapula away from the surface of the back." [HPO:probinson] comment: The serratus anterior muscle is responsible for controlling the scapula (shoulder blade), and weakness of this muscle (which may be caused by damage to the long thoracic nerve) can manifest as scular winging. subset: hposlim_core synonym: "Scapula alata" EXACT [] synonym: "Scapular weakness" RELATED [] synonym: "Winged scapulae" EXACT [] synonym: "Winged scapulas" EXACT [] synonym: "Winged shoulder blade" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MEDDRA:10067628 "Winged scapula" xref: SNOMEDCT_US:17211005 xref: UMLS:C0240953 xref: UMLS:C4072849 is_a: HP:0000782 ! Abnormality of the scapula is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature [Term] id: HP:0003693 name: Distal amyotrophy alt_id: HP:0002484 alt_id: HP:0002934 alt_id: HP:0003486 alt_id: HP:0003699 alt_id: HP:0006786 alt_id: HP:0006864 alt_id: HP:0008937 alt_id: HP:0008958 alt_id: HP:0009015 alt_id: HP:0009040 alt_id: HP:0009065 def: "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators] comment: Most polyneuropathies affect distal lower extremity miuscles early on. Polyneuropathies are roughly symmeetric in distribution and tend to affect nerves in a length-dependent manner, with the longest nerves first (stocking-glove distribution). synonym: "Amyotrophy of distal limb muscles" EXACT [] synonym: "Distal amyotrophy, especially of the hands and feet" EXACT [] synonym: "Distal limb muscle atrophy" EXACT [] synonym: "Distal muscle atrophy" EXACT [] synonym: "Distal muscle atrophy, upper and lower limbs" EXACT [] synonym: "Distal muscle degeneration" EXACT [ORCID:0000-0001-5208-3432] synonym: "Distal muscle wasting" EXACT layperson [] synonym: "Distal muscular atrophy" EXACT [] synonym: "Muscle atrophy, distal" EXACT [] xref: UMLS:C1848736 is_a: HP:0003202 ! Skeletal muscle atrophy [Term] id: HP:0003694 name: Late-onset proximal muscle weakness def: "Lack of strength of the proximal musculature occurring late in the clinical course." [HPO:curators] xref: UMLS:C4025578 is_a: HP:0003701 ! Proximal muscle weakness [Term] id: HP:0003696 name: Absent epiphysis of the distal phalanx of the 5th finger def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger." [HPO:curators] synonym: "Absent end part of the outermost bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent end part of the outermost bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent end part of the outermost bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025577 is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009382 ! Absent epiphyses of the 5th finger is_a: HP:0010246 ! Absent epiphyses of the distal phalanges of the hand created_by: peter creation_date: 2008-12-22T01:37:43Z [Term] id: HP:0003697 name: Scapuloperoneal amyotrophy alt_id: HP:0006920 alt_id: HP:0008957 def: "Muscular atrophy in the distribution of shoulder girdle and peroneal muscles." [HPO:probinson] synonym: "Scapuloperoneal atrophy" EXACT [] xref: UMLS:C1842162 is_a: HP:0003202 ! Skeletal muscle atrophy [Term] id: HP:0003698 name: Difficulty standing synonym: "Difficulty in standing" EXACT layperson [] synonym: "Standing instability" EXACT [] xref: SNOMEDCT_US:249902000 xref: UMLS:C0241237 is_a: HP:0004302 ! Functional motor deficit [Term] id: HP:0003700 name: Generalized amyotrophy alt_id: HP:0008977 alt_id: HP:0008987 alt_id: HP:0008996 alt_id: HP:0009043 alt_id: HP:0009052 alt_id: HP:0009068 alt_id: HP:0009074 def: "Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles." [HPO:probinson] synonym: "Diffuse amyotrophy" EXACT [] synonym: "Diffuse muscle atrophy" EXACT [] synonym: "Diffuse muscle wasting" EXACT [] synonym: "Diffuse skeletal muscle wasting" EXACT layperson [] synonym: "Generalized muscle atrophy" EXACT [] synonym: "Generalized muscle degeneration" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Muscle atrophy, diffuse" EXACT [] synonym: "Muscle atrophy, generalized" EXACT layperson [] synonym: "Muscular atrophy, generalized" EXACT [] xref: UMLS:C1389113 is_a: HP:0003202 ! Skeletal muscle atrophy [Term] id: HP:0003701 name: Proximal muscle weakness alt_id: HP:0003432 alt_id: HP:0003475 alt_id: HP:0007195 alt_id: HP:0008950 alt_id: HP:0008961 alt_id: HP:0008975 alt_id: HP:0009033 alt_id: HP:0009075 def: "A lack of strength of the proximal muscles." [HPO:probinson] comment: Removed logical definition that used anonymous class. Outstanding term request in UBERON for proximal muscle organ. synonym: "Muscle weakness, proximal" EXACT [] synonym: "Proximal limb muscle weakness" EXACT [] synonym: "Proximal limb weakness" EXACT [] synonym: "Proximal neurogenic muscle weakness" RELATED layperson [] synonym: "Weakness in muscles of upper arms and upper legs" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:249939004 xref: UMLS:C0221629 xref: UMLS:C1838869 is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003704 name: Scapuloperoneal weakness synonym: "Neurogenic scapuloperoneal syndrome" EXACT [] xref: UMLS:C1842161 is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003707 name: Calf muscle pseudohypertrophy def: "Enlargement of the muscles of the calf due to their replacement by connective tissue or fat." [HPO:probinson] comment: Pseudohypertrophy of the calf musculature is commonly seen in certain muscular dystrophies but also with spinal muscular atrophy and other denervating conditions. synonym: "Pseudohypertrophy of the calves" EXACT [] xref: UMLS:C1839666 is_a: HP:0001430 ! Abnormality of the calf musculature [Term] id: HP:0003710 name: Exercise-induced muscle cramps alt_id: HP:0008983 alt_id: HP:0009000 def: "Sudden and involuntary contractions of one or more muscles brought on by physical exertion." [HPO:probinson] synonym: "Exercise-induced muscle cramping" EXACT layperson [] synonym: "Exercise-induced muscle cramps" EXACT layperson [] synonym: "Muscle cramps following exercise" EXACT layperson [] synonym: "Muscle cramps on exercise" EXACT layperson [] synonym: "Muscle cramps on exertion" EXACT layperson [] synonym: "Muscle cramps with exertion" EXACT layperson [] xref: UMLS:C1855578 is_a: HP:0003394 ! Muscle spasm [Term] id: HP:0003712 name: Skeletal muscle hypertrophy def: "Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells)." [HPO:curators] comment: Increased muscle bulk based on clinical observation. synonym: "Hypertrophic muscles" EXACT [] synonym: "Increased skeletal muscle cells" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Muscle hypertrophy" EXACT [] synonym: "Muscular hypertrophy" EXACT [] xref: UMLS:C2265792 is_a: HP:0030236 ! Abnormality of muscle size is_a: HP:0040290 ! Abnormality of skeletal muscles [Term] id: HP:0003713 name: Muscle fiber necrosis alt_id: HP:0003726 def: "Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers." [HPO:curators] xref: UMLS:C1850848 is_a: HP:0004303 ! Abnormal muscle fiber morphology [Term] id: HP:0003715 name: Myofibrillar myopathy def: "Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins." [HPO:probinson] comment: This feature is demonstrated by muscle biopsy. synonym: "Myofibrillar changes" EXACT [] xref: MSH:C580316 xref: SNOMEDCT_US:699269005 xref: UMLS:C2678065 is_a: HP:0003198 ! Myopathy [Term] id: HP:0003716 name: Generalized muscular appearance from birth xref: UMLS:C1837799 is_a: HP:0011805 ! Abnormal muscle morphology [Term] id: HP:0003717 name: Minimal subcutaneous fat synonym: "Minimal fat below the skin" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1859442 is_a: HP:0003758 ! Reduced subcutaneous adipose tissue [Term] id: HP:0003719 name: Muscle mounding comment: Transient swelling of muscle induced by percussion. xref: UMLS:C1853702 is_a: HP:0010548 ! Percussion myotonia [Term] id: HP:0003720 name: Generalized muscle hypertrophy def: "Hypertrophy (increase in size) of muscle cells in a generalized (not localized) distribution." [HPO:curators] synonym: "Generalized increase in muscle cell size" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3805639 is_a: HP:0003712 ! Skeletal muscle hypertrophy [Term] id: HP:0003722 name: Neck flexor weakness alt_id: HP:0000469 def: "Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior)." [HPO:curators] synonym: "Neck flexion weakness" EXACT layperson [] synonym: "Neck flexor muscle weakness" EXACT [] xref: UMLS:C1843637 is_a: HP:0000467 ! Neck muscle weakness [Term] id: HP:0003724 name: Shoulder girdle muscle atrophy def: "Amyotrophy affecting the muscles of the shoulder girdle." [HPO:curators] synonym: "Shoulder girdle atrophy" EXACT [] synonym: "Shoulder girdle muscle wasting" EXACT layperson [] synonym: "Shoulder-girdle muscle atrophy" EXACT layperson [] xref: UMLS:C1847766 is_a: HP:0003797 ! Limb-girdle muscle atrophy [Term] id: HP:0003725 name: Firm muscles xref: UMLS:C1850656 is_a: HP:0011805 ! Abnormal muscle morphology [Term] id: HP:0003729 name: Enteroviral dermatomyositis syndrome xref: UMLS:C3806660 is_a: HP:0002743 ! Recurrent enteroviral infections [Term] id: HP:0003730 name: EMG: myotonic runs def: "Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG)." [HPO:probinson] comment: This is a characteristic abnormality seen in the myotonias and periodic paralyses. synonym: "EMG: spontaneous, repetitive electrical activity" RELATED [] xref: UMLS:C4020837 xref: UMLS:C4025576 is_a: HP:0002486 ! Myotonia [Term] id: HP:0003731 name: Quadriceps muscle weakness def: "Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris)." [HPO:curators] synonym: "Quadriceps weakness" EXACT layperson [] xref: SNOMEDCT_US:300948004 xref: UMLS:C0577655 is_a: HP:0008994 ! Proximal muscle weakness in lower limbs [Term] id: HP:0003733 name: Thigh hypertrophy def: "Muscle hypertrophy affecting the thighs." [HPO:probinson] comment: Proximal lower limb hypertrophy synonym: "Increased thigh size" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1846674 is_a: HP:0008968 ! Muscle hypertrophy of the lower extremities [Term] id: HP:0003736 name: Autophagic vacuoles def: "The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue." [HPO:probinson, pmid:17027858] xref: UMLS:C0544966 is_a: HP:0004303 ! Abnormal muscle fiber morphology [Term] id: HP:0003737 name: Mitochondrial myopathy alt_id: HP:0008960 def: "A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers." [HPO:probinson] comment: This is a bundled term that should not be used for future annotations. xref: MSH:D017240 xref: SNOMEDCT_US:16851005 xref: UMLS:C0162670 is_a: HP:0003800 ! Muscle abnormality related to mitochondrial dysfunction [Term] id: HP:0003738 name: Exercise-induced myalgia def: "The occurrence of an unusually high amount of muscle pain following exercise." [HPO:probinson] synonym: "Exercise-induced muscle pain" EXACT layperson [] synonym: "Muscle pain on exercise" EXACT layperson [] synonym: "Muscle pain with exercise" EXACT layperson [] synonym: "Muscle pain, exercise-induced" EXACT layperson [] xref: UMLS:C1850830 is_a: HP:0003326 ! Myalgia [Term] id: HP:0003739 name: Myoclonic spasms alt_id: HP:0006963 xref: UMLS:C3806442 is_a: HP:0001336 ! Myoclonus [Term] id: HP:0003740 name: Myotonia with warm-up phenomenon def: "Myotonia that occurs after a period of rest and decreases with continuing exercise." [HPO:probinson, pmid:7678441] xref: UMLS:C4025575 is_a: HP:0002486 ! Myotonia [Term] id: HP:0003741 name: Congenital muscular dystrophy alt_id: HP:0003793 synonym: "Muscular dystrophy, congenital" EXACT [] xref: SNOMEDCT_US:240059009 xref: UMLS:C0699743 is_a: HP:0003560 ! Muscular dystrophy [Term] id: HP:0003743 name: Genetic anticipation def: "A mode of inheritance in which the severity of a disorder increases or the age of onset decreases as the disorder is passed from one generation to the next." [HPO:probinson] comment: This mode of inheritance is characteristic of trinucleotide and some other repeat disorders. xref: MSH:D020132 xref: UMLS:C0600498 is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0003744 name: Genetic anticipation with paternal anticipation bias def: "A type of genetic anticipation observed predominantly upon transmission from affected males." [HPO:probinson] synonym: "Paternal anticipation bias" RELATED [] xref: UMLS:C1834002 xref: UMLS:C4025574 is_a: HP:0003743 ! Genetic anticipation [Term] id: HP:0003745 name: Sporadic alt_id: HP:0001420 alt_id: HP:0003747 alt_id: HP:0003769 def: "Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected." [HPO:probinson] synonym: "Isolated cases" EXACT [] synonym: "No previous family history" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1853237 is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0003749 name: Pelvic girdle muscle weakness alt_id: HP:0003692 alt_id: HP:0008999 alt_id: HP:0009036 def: "Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis." [HPO:probinson] synonym: "Hip girdle muscle weakness" EXACT [] synonym: "Hip girdle weakness" EXACT [] synonym: "Hip-girdle muscle weakness" EXACT [] synonym: "Pelvic girdle weakness" EXACT [] xref: SNOMEDCT_US:249941003 xref: UMLS:C0427064 is_a: HP:0001445 ! Abnormality of the hip-girdle musculature is_a: HP:0003325 ! Limb-girdle muscle weakness [Term] id: HP:0003750 name: Increased muscle fatiguability def: "An abnormal, increased fatiguability of the musculature." [HPO:curators] synonym: "Muscle fatigue" RELATED [] xref: MSH:D018763 xref: SNOMEDCT_US:80449002 xref: UMLS:C0242979 xref: UMLS:C4025573 is_a: HP:0011804 ! Abnormal muscle physiology [Term] id: HP:0003752 name: Episodic flaccid weakness def: "Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching." [HPO:probinson] xref: UMLS:C4025572 is_a: HP:0010547 ! Muscle flaccidity [Term] id: HP:0003755 name: Type 1 fibers relatively smaller than type 2 fibers def: "The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers." [HPO:curators] comment: This feature can only be observed on muscle biopsy. xref: UMLS:C4025571 is_a: HP:0012084 ! Abnormality of skeletal muscle fiber size [Term] id: HP:0003756 name: Skeletal myopathy xref: SNOMEDCT_US:75047002 xref: UMLS:C1533847 is_a: HP:0003198 ! Myopathy [Term] id: HP:0003758 name: Reduced subcutaneous adipose tissue alt_id: HP:0001002 alt_id: HP:0007409 def: "A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness." [] synonym: "Decreased subcutaneous adipose tissue" EXACT [] synonym: "Decreased subcutaneous fat" EXACT [] synonym: "Reduced fat tissue below the skin" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Reduced subcutaneous fat" EXACT [] synonym: "Scanty adipose tissue" EXACT [] xref: SNOMEDCT_US:248316006 xref: UMLS:C0424631 xref: UMLS:C1857657 is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue is_a: HP:0040063 ! Decreased adipose tissue [Term] id: HP:0003759 name: Hypoplasia of lymphatic vessels def: "Congenital underdevelopment of lymph vessels." [HPO:probinson] comment: This feature can be demonstrated by lymphography. synonym: "Underdeveloped lymphatic vessels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025570 is_a: HP:0100766 ! Abnormal lymphatic vessel morphology [Term] id: HP:0003760 name: Percussion-induced rapid rolling muscle contractions def: "Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle." [HPO:probinson] xref: UMLS:C4280804 is_a: HP:0010548 ! Percussion myotonia [Term] id: HP:0003761 name: Calcinosis def: "Formation of calcium deposits in any soft tissue." [HPO:probinson] synonym: "Calcium buildup in soft tissues of body" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D002114 xref: SNOMEDCT_US:6595006 xref: UMLS:C0006663 is_a: HP:0011805 ! Abnormal muscle morphology [Term] id: HP:0003762 name: Uterus didelphys def: "A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis." [HPO:probinson] synonym: "Double uterus" RELATED layperson [] xref: SNOMEDCT_US:15545001 xref: SNOMEDCT_US:22504001 xref: UMLS:C0152240 xref: UMLS:C0266393 is_a: HP:0031105 ! Abnormal uterus morphology [Term] id: HP:0003763 name: Bruxism def: "Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep." [HPO:sdoelken] synonym: "Teeth grinding" EXACT layperson [ORCID:0000-0002-0736-9199] xref: MSH:D002012 xref: SNOMEDCT_US:191983006 xref: SNOMEDCT_US:90207007 xref: UMLS:C0006325 is_a: HP:0002360 ! Sleep disturbance [Term] id: HP:0003764 name: Nevus def: "A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin." [HPO:probinson] comment: The word Nevus derives from the Latin word Knee-vus meaning birthmark or mole. synonym: "Mole" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Naevi" RELATED [] synonym: "Naevus" EXACT [] synonym: "Nevi" RELATED [] xref: MSH:D009506 xref: MSH:D009508 xref: SNOMEDCT_US:21119008 xref: SNOMEDCT_US:400096001 xref: SNOMEDCT_US:51697005 xref: UMLS:C0027960 xref: UMLS:C0027962 is_a: HP:0011355 ! Localized skin lesion [Term] id: HP:0003765 name: Psoriasiform dermatitis def: "A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales)." [HPO:probinson] comment: The label Psoriaform dermatitis is used to emphasize that this term is meant to describe the morhpological abnormality of the skin and not all of the manifestations of the disease psoriasis (which can also include itching and nail pitsand other manifestations). synonym: "Psoriasis" EXACT [] xref: MSH:D011565 xref: SNOMEDCT_US:9014002 xref: UMLS:C0033860 is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0003768 name: Periodic paralysis def: "Episodes of muscle weakness." [HPO:probinson] synonym: "Episodic paralysis" EXACT [] xref: SNOMEDCT_US:198030008 xref: UMLS:C1279412 is_a: HP:0003470 ! Paralysis [Term] id: HP:0003771 name: Pulp stones def: "Multiple punctate calcifications in the dental pulp." [HPO:ibailleulforestier] synonym: "False denticles" NARROW [ORCID:0000-0001-5889-4463] synonym: "False pulp stones" NARROW [ORCID:0000-0001-5889-4463] synonym: "Pulp calcifications" EXACT [ORCID:0000-0001-5889-4463] synonym: "Pulp denticles" EXACT [ORCID:0000-0001-5889-4463] synonym: "Pulp stones" EXACT layperson [] synonym: "True denticles" NARROW [ORCID:0000-0001-5889-4463] synonym: "True pulp stones" NARROW [ORCID:0000-0001-5889-4463] xref: MSH:D003784 xref: SNOMEDCT_US:57602001 xref: UMLS:C1527284 xref: UMLS:C4280259 xref: UMLS:C4280546 is_a: HP:0006479 ! Abnormality of the dental pulp [Term] id: HP:0003774 name: Stage 5 chronic kidney disease alt_id: HP:0000101 alt_id: HP:0004720 alt_id: HP:0004725 alt_id: HP:0004733 alt_id: HP:0004738 alt_id: HP:0005570 def: "A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine." [HPO:probinson] comment: Equivalent with the National Kidney Foundation's definition of stage 5 chronic kidney disease. synonym: "Chronic renal failure" EXACT [] synonym: "End stage renal disease" EXACT [] synonym: "End stage renal failure" EXACT [] synonym: "End-stage renal disease" EXACT [] synonym: "End-stage renal failure" EXACT [HPO:skoehler] synonym: "Renal failure, endstage" RELATED layperson [HPO:skoehler] synonym: "Stage 5 chronic kidney disease" EXACT layperson [] xref: SNOMEDCT_US:433146000 xref: UMLS:C2316810 is_a: HP:0012622 ! Chronic kidney disease [Term] id: HP:0003777 name: Pili torti def: "Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope." [HPO:probinson] subset: hposlim_core synonym: "Flattened and twisted hair" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:C562485 xref: SNOMEDCT_US:17170005 xref: UMLS:C0263491 is_a: HP:0003328 ! Abnormal hair laboratory examination [Term] id: HP:0003778 name: Short mandibular rami alt_id: HP:0005447 synonym: "Decreased height of mandibular ramus" NARROW [ORCID:0000-0001-5889-4463] synonym: "Decreased size of mandibular ramus" BROAD [ORCID:0000-0001-5889-4463] synonym: "Short body and ramus of mandible" EXACT [] synonym: "Short mandibular ramus" EXACT [] synonym: "Underdeveloped mandibular rami" EXACT [] xref: UMLS:C1841648 xref: UMLS:C4280545 is_a: HP:0000347 ! Micrognathia is_a: HP:3000003 ! Abnormal mandibular ramus morphology [Term] id: HP:0003779 name: Antegonial notching of mandible synonym: "Deep antegonial notch of mandible" EXACT [ORCID:0000-0001-5889-4463] synonym: "Large antegonial notch of mandible" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1844509 is_a: HP:0010753 ! Midline defect of mandible [Term] id: HP:0003781 name: Excessive salivation def: "Excessive production of saliva." [HPO:probinson] synonym: "Excessive production of saliva" EXACT [] synonym: "Excessive salivation" EXACT layperson [] synonym: "Hypersalivation" EXACT [] synonym: "Mouth watering" EXACT layperson [] synonym: "Oversalivation" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Ptyalism" EXACT [] synonym: "Watery mouth" EXACT layperson [] xref: MSH:D012798 xref: SNOMEDCT_US:275295002 xref: SNOMEDCT_US:53827007 xref: SNOMEDCT_US:62718007 xref: UMLS:C0013132 xref: UMLS:C0037036 is_a: HP:0100755 ! Abnormality of salivation [Term] id: HP:0003782 name: Eunuchoid habitus def: "A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more)." [HPO:probinson] xref: UMLS:C4025569 is_a: HP:0004325 ! Decreased body weight [Term] id: HP:0003783 name: Externally rotated/abducted legs xref: UMLS:C1970461 is_a: HP:0002814 ! Abnormality of the lower limb [Term] id: HP:0003784 name: Type 1 collagen overmodification xref: UMLS:C1970463 is_a: HP:0011862 ! Abnormal bone collagen fibril morphology [Term] id: HP:0003785 name: Decreased CSF homovanillic acid def: "Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine." [KI:phemming, pmid:12615172] xref: UMLS:C4280803 is_a: HP:0025454 ! Abnormal CSF metabolite level [Term] id: HP:0003787 name: Type 1 and type 2 muscle fiber minicore regions def: "Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers." [HPO:probinson] xref: UMLS:C4025568 is_a: HP:0003789 ! Minicore myopathy [Term] id: HP:0003789 name: Minicore myopathy alt_id: HP:0003804 def: "Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers." [HPO:probinson] xref: MSH:C564969 xref: UMLS:C1850674 is_a: HP:0003198 ! Myopathy [Term] id: HP:0003791 name: Deposits immunoreactive to beta-amyloid protein xref: UMLS:C1853934 is_a: HP:0004303 ! Abnormal muscle fiber morphology [Term] id: HP:0003795 name: Short middle phalanx of toe def: "Developmental hypoplasia (shortening) of middle phalanx of toe." [HPO:probinson] synonym: "Short middle bones (feet)" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short middle phalanges of toes" EXACT [] xref: UMLS:C4021723 is_a: HP:0001831 ! Short toe is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes [Term] id: HP:0003796 name: Irregular iliac crest def: "Irregularity of the iliac crest, which is the superior border of the wing of the ilium." [HPO:curators] xref: UMLS:C1855180 is_a: HP:0002867 ! Abnormality of the ilium [Term] id: HP:0003797 name: Limb-girdle muscle atrophy def: "Muscular atrophy affecting the muscles of the limb girdle." [HPO:curators] synonym: "Limb-girdle myopathy" BROAD [] synonym: "Wasting of limb-girdle muscle" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1404521 xref: UMLS:C1842552 is_a: HP:0003202 ! Skeletal muscle atrophy is_a: HP:0009127 ! Abnormality of the musculature of the limbs [Term] id: HP:0003798 name: Nemaline bodies def: "Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces." [HPO:curators, PMID:11333380] comment: This finding can be demonstrated by muscle biopsy, which shows nemaline bodies (rods) on Gomori trichrome staining. Rod bodies characteristically stain red with\nMGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative with ATPase, NADH and SDH as they lack myosin and mitochondria. Rods are characteristic of nemaline myopathy but also seen in central core disease and various other diseases which include neurogenic disorders (amyotrophic lateral sclerosis, spinal muscular atrophy, undefined), inflammatory myopathies (dermatomyositis, polymyositis, periarteritis nodosa), metabolic myopathy (mitochondrial myopathy), muscular dystrophy (LGMD) and some undefined myopathies (Liouet al; Diagnostic role of nemaline rod in neuromuscular disease. Acta Neurol Sinica 1992;1: 218-23). synonym: "Nemaline rods" EXACT [] xref: UMLS:C3808039 is_a: HP:0100303 ! Muscle fiber cytoplasmatic inclusion bodies [Term] id: HP:0003799 name: Marked delay in bone age alt_id: HP:0005742 alt_id: HP:0005843 synonym: "Marked delay in bone age" EXACT layperson [] synonym: "Marked retardation in skeletal maturation" EXACT [] synonym: "Markedly retarded bone age" EXACT layperson [] xref: UMLS:C1868549 is_a: HP:0002750 ! Delayed skeletal maturation [Term] id: HP:0003800 name: Muscle abnormality related to mitochondrial dysfunction xref: UMLS:C4025566 is_a: HP:0003011 ! Abnormality of the musculature [Term] id: HP:0003803 name: Type 1 muscle fiber predominance alt_id: HP:0003721 alt_id: HP:0003807 def: "An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy)." [HPO:probinson] comment: This finding is demonstrated by muscle biopsy. synonym: "Type I muscle fiber predominance" EXACT [] xref: UMLS:C1854387 is_a: HP:0004303 ! Abnormal muscle fiber morphology [Term] id: HP:0003805 name: Rimmed vacuoles alt_id: HP:0009029 def: "Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions." [HPO:probinson] comment: Rimmed vacuoles are characteristic for inclusion-bosy myositis, but are also seen an a number of other diseases. This term implies that rimmed vacuoles are found histologically. In some cases, the majority of muscle fibers are involved, but in others, rimmed vacuoles can be found in only a minority of fibers. synonym: "'rimmed vacuoles' on biopsy" EXACT [] synonym: "'rimmed' vacuoles on biopsy" EXACT [] xref: UMLS:C1853932 is_a: HP:0004303 ! Abnormal muscle fiber morphology [Term] id: HP:0003808 name: Abnormal muscle tone synonym: "Abnormal muscle tone" EXACT layperson [] xref: UMLS:C0852413 is_a: HP:0011804 ! Abnormal muscle physiology [Term] id: HP:0003809 name: Reduced intrathoracic adipose tissue def: "An abnormally reduced amount of adipose tissue in the thoracic cavity." [] xref: UMLS:C1837797 is_a: HP:0040063 ! Decreased adipose tissue [Term] id: HP:0003810 name: Late-onset distal muscle weakness alt_id: HP:0003728 xref: UMLS:C4025565 is_a: HP:0002460 ! Distal muscle weakness [Term] id: HP:0003811 name: Neonatal death alt_id: HP:0003820 alt_id: HP:0003824 def: "Death within the first 28 days of life." [HPO:probinson] synonym: "Neonatal lethal" EXACT layperson [] xref: MSH:D066087 xref: SNOMEDCT_US:276506001 xref: UMLS:C0410916 is_a: HP:0011420 ! Age of death [Term] id: HP:0003812 name: Phenotypic variability alt_id: HP:0003813 alt_id: HP:0003815 alt_id: HP:0003821 alt_id: HP:0003822 def: "A variability of phenotypic features." [HPO:probinson] comment: This term can be applied to disease entities but not to individuals. It may be made obsolete in future versions of the HPO. synonym: "Clinical heterogeneity" EXACT [HPO:skoehler] synonym: "Highly variable clinical phenotype" EXACT [] synonym: "Highly variable phenotype" EXACT [] synonym: "Highly variable phenotype and severity" EXACT [] synonym: "Highly variable phenotype, even within families" EXACT [] synonym: "Variable phenotype" EXACT [] synonym: "Variable phenotypic severity" EXACT [] xref: UMLS:C1837514 xref: UMLS:C1839039 xref: UMLS:C1850667 xref: UMLS:C1866210 is_a: HP:0012823 ! Clinical modifier [Term] id: HP:0003819 name: Death in childhood alt_id: HP:0001432 alt_id: HP:0004149 def: "Death in during childhood, defined here as between the ages of 2 and 10 years." [HPO:probinson] comment: previous def was: 'has part' some \n(premature and ('inheres in' some death) and ('has modifier' some abnormal)) synonym: "Death in childhood" EXACT layperson [] xref: UMLS:C1843392 is_a: HP:0011420 ! Age of death [Term] id: HP:0003826 name: Stillbirth alt_id: HP:0001624 alt_id: HP:0001625 def: "Death of the fetus in utero after at least 20 weeks of gestation." [HPO:probinson] synonym: "Fetal death" RELATED layperson [] synonym: "Stillbirth" EXACT layperson [] synonym: "Stillborn" EXACT layperson [] xref: MSH:D005313 xref: MSH:D050497 xref: SNOMEDCT_US:237364002 xref: SNOMEDCT_US:276507005 xref: UMLS:C0015927 xref: UMLS:C0595939 is_a: HP:0011420 ! Age of death [Term] id: HP:0003828 name: Variable expressivity alt_id: HP:0003814 alt_id: HP:0003825 def: "A variable severity of phenotypic features." [HPO:probinson] comment: This term can be applied to disease entities but not to individuals. It may be made obsolete in future versions of the HPO. synonym: "Highly variable severity" RELATED [HPO:skoehler] synonym: "Variable severity" EXACT [] xref: UMLS:C1861403 xref: UMLS:C1866862 is_a: HP:0003812 ! Phenotypic variability [Term] id: HP:0003829 name: Incomplete penetrance alt_id: HP:0003830 def: "A situation in which mutation carriers do not show clinically evident phenotypic abnormalities." [HPO:probinson] comment: This term can be applied to disease entities but not to individuals. It may be made obsolete in future versions of the HPO. synonym: "Reduced penetrance" EXACT [] xref: UMLS:C1836598 is_a: HP:0003812 ! Phenotypic variability [Term] id: HP:0003831 name: Age-dependent penetrance def: "A situation in which phenotypic abnormalities become evident with age." [HPO:probinson] synonym: "Age dependent penetrance" EXACT [] xref: UMLS:C1835978 is_a: HP:0003829 ! Incomplete penetrance [Term] id: HP:0003832 name: Abnormality of the tibial plateaux xref: UMLS:C4025564 is_a: HP:0002992 ! Abnormality of tibia morphology [Term] id: HP:0003833 name: Laterally deficient tibial plateaux xref: UMLS:C4025563 is_a: HP:0003832 ! Abnormality of the tibial plateaux [Term] id: HP:0003834 name: Shoulder dislocation def: "A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation." [HPO:curators] synonym: "Shoulder dislocation" EXACT layperson [] xref: MSH:D012783 xref: SNOMEDCT_US:125615005 xref: SNOMEDCT_US:417076003 xref: UMLS:C0037005 is_a: HP:0003043 ! Abnormality of the shoulder is_a: HP:0030310 ! Upper extremity joint dislocation [Term] id: HP:0003835 name: Shoulder subluxation def: "A partial dislocation of the shoulder joint." [HPO:curators] synonym: "Partial shoulder dislocation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:263051004 xref: UMLS:C0434744 is_a: HP:0032153 ! Joint subluxation [Term] id: HP:0003836 name: Stippled calcification of the shoulder xref: UMLS:C4025562 is_a: HP:0003043 ! Abnormality of the shoulder [Term] id: HP:0003837 name: Soft-tissue ossification around the shoulders def: "Formation of calcified tissue in the soft tissues surrounding the shoulder." [HPO:probinson] synonym: "Calcification of the soft-tissue around the shoulders" RELATED layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025561 is_a: HP:0011986 ! Ectopic ossification [Term] id: HP:0003839 name: Abnormality of upper limb epiphysis morphology alt_id: HP:0003845 synonym: "Abnormal shape of end part of upper limb long bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality involving the epiphyses of the upper limbs" EXACT [] synonym: "Epihyseal plate abnormality of the upper limbs" EXACT [] xref: UMLS:C4021722 is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0006505 ! Abnormality of limb epiphysis morphology [Term] id: HP:0003840 name: Delayed upper limb epiphyseal ossification def: "A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs." [HPO:probinson] synonym: "Delayed maturation fo the end part of the upper limb bone" RELATED layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025560 xref: UMLS:C4280544 is_a: HP:0002663 ! Delayed epiphyseal ossification is_a: HP:0003839 ! Abnormality of upper limb epiphysis morphology [Term] id: HP:0003841 name: Fragmented epiphyses of the upper limbs synonym: "Fragmented end part of upper limb bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025559 is_a: HP:0003839 ! Abnormality of upper limb epiphysis morphology is_a: HP:0100168 ! Fragmented epiphyses [Term] id: HP:0003842 name: Irregular epiphyses of the upper limbs synonym: "Irregular end part of upper limb bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025558 is_a: HP:0003839 ! Abnormality of upper limb epiphysis morphology is_a: HP:0010582 ! Irregular epiphyses [Term] id: HP:0003843 name: Round epiphyses of the upper limbs synonym: "Round end part of upper limb bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025557 is_a: HP:0003839 ! Abnormality of upper limb epiphysis morphology [Term] id: HP:0003844 name: Small epiphyses of the upper limbs synonym: "Small end part of upper limb bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025556 is_a: HP:0003839 ! Abnormality of upper limb epiphysis morphology is_a: HP:0010585 ! Small epiphyses [Term] id: HP:0003846 name: Wide epiphyseal plates of the upper limbs synonym: "Broad epiphyseal plates of the upper limbs" EXACT [] synonym: "Broad growth plates of upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4020913 is_a: HP:0003839 ! Abnormality of upper limb epiphysis morphology [Term] id: HP:0003848 name: Cupped metaphyses of the upper limbs synonym: "Cupped wide portion of the upper limb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025555 is_a: HP:0003021 ! Metaphyseal cupping is_a: HP:0009809 ! Abnormality of upper limb metaphysis [Term] id: HP:0003849 name: Flared upper limb metaphysis def: "The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm." [HPO:probinson] synonym: "Flared metaphyses of the upper limbs" EXACT [] synonym: "Flared wide portion of the upper limb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021721 is_a: HP:0003015 ! Flared metaphysis is_a: HP:0003856 ! Upper limb metaphyseal widening [Term] id: HP:0003850 name: Upper-limb metaphyseal irregularity synonym: "Irregular metaphyses of the upper limbs" EXACT [] synonym: "Irregular wide portion of upper limb bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021720 is_a: HP:0003025 ! Metaphyseal irregularity is_a: HP:0009809 ! Abnormality of upper limb metaphysis [Term] id: HP:0003851 name: Lytic defects in metaphyses of the upper limbs xref: UMLS:C4025554 is_a: HP:0009809 ! Abnormality of upper limb metaphysis [Term] id: HP:0003852 name: Normal density transverse bands in metaphyses of the upper limbs xref: UMLS:C4025553 is_a: HP:0009809 ! Abnormality of upper limb metaphysis [Term] id: HP:0003853 name: Sclerosis with transverse striations in metaphyses of the upper limbs xref: UMLS:C4025552 is_a: HP:0003854 ! Sclerosis of metaphyses of the upper limbs [Term] id: HP:0003854 name: Sclerosis of metaphyses of the upper limbs synonym: "Increased bone density in wide portion of the upper limb bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025551 is_a: HP:0009809 ! Abnormality of upper limb metaphysis [Term] id: HP:0003855 name: Spurred metaphyses of the upper limbs synonym: "Spurred wide portion of upper limb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025550 is_a: HP:0005054 ! Metaphyseal spurs is_a: HP:0009809 ! Abnormality of upper limb metaphysis [Term] id: HP:0003856 name: Upper limb metaphyseal widening def: "Increased width (breadth) of metaphyses of the arms." [HPO:probinson] synonym: "Broad wide portion of upper limb bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide/broad metaphyses of the upper limbs" EXACT [] xref: UMLS:C4021719 is_a: HP:0003016 ! Metaphyseal widening is_a: HP:0009809 ! Abnormality of upper limb metaphysis [Term] id: HP:0003858 name: Cortical diaphyseal irregularity of the upper limbs xref: UMLS:C4025549 is_a: HP:0009808 ! Anomaly of the upper limb diaphyses [Term] id: HP:0003859 name: Cortical diaphyseal thickening of the upper limbs xref: UMLS:C4025548 is_a: HP:0009808 ! Anomaly of the upper limb diaphyses [Term] id: HP:0003860 name: Diaphyseal sclerosis of the upper limbs def: "An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Increased bone density in central part of long bone of upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025547 is_a: HP:0003034 ! Diaphyseal sclerosis is_a: HP:0009808 ! Anomaly of the upper limb diaphyses [Term] id: HP:0003861 name: Broad diaphyses of the upper limbs synonym: "Broad shaft of long bone of the upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide diaphyses of the upper limbs" EXACT [] synonym: "Wide shaft of long bone of the upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021718 is_a: HP:0009808 ! Anomaly of the upper limb diaphyses [Term] id: HP:0003862 name: Absent humerus def: "Missing humerus bone associated with congenital failure of development." [HPO:probinson] subset: hposlim_core synonym: "Absent long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia of the humerus" EXACT [] synonym: "Aplastic humerus" EXACT [] xref: UMLS:C2678399 is_a: HP:0006507 ! Aplasia/hypoplasia of the humerus [Term] id: HP:0003863 name: Angulated humerus synonym: "Angulated long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025546 is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003864 name: Bifid humerus def: "Clefting affecting the humerus." [HPO:curators] synonym: "Notched long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025545 is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003865 name: Bowed humerus def: "A bending or abnormal curvature of the humerus." [HPO:probinson] subset: hposlim_core synonym: "Bowed long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bowing of the humerus" EXACT [] synonym: "Humeral bowing" EXACT [] xref: UMLS:C1859460 is_a: HP:0006488 ! Bowing of the arm is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003866 name: Coarse humeral trabeculae xref: UMLS:C4025544 is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003867 name: Humeral cortical irregularity xref: UMLS:C4025543 is_a: HP:0005731 ! Cortical irregularity is_a: HP:0010629 ! Abnormal morphology of the cortex of the humerus [Term] id: HP:0003868 name: Humeral cortical thickening xref: UMLS:C4025542 is_a: HP:0000935 ! Thickened cortex of long bones is_a: HP:0010629 ! Abnormal morphology of the cortex of the humerus [Term] id: HP:0003869 name: Humeral cortical thinning xref: UMLS:C4025541 is_a: HP:0002753 ! Thin bony cortex is_a: HP:0010629 ! Abnormal morphology of the cortex of the humerus [Term] id: HP:0003870 name: Crumpled humerus alt_id: HP:0003873 synonym: "Crumpled long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025540 is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003871 name: Deformed humerus synonym: "Deformed long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025539 is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003872 name: Humeral exostoses def: "Presence of more than one exostosis originating in one or noth humerus bones. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage." [HPO:probinson] xref: UMLS:C4025538 is_a: HP:0002762 ! Multiple exostoses is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003874 name: Humerus varus subset: hposlim_core xref: UMLS:C4025537 is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003875 name: Humeral lytic defects def: "Destruction of an area of humerus bone due to a disease process, such as cancer." [] comment: Osteolytic defects can be observed by radiology studies such as an X-ray; however, the type of condition that is causing the lesion cannot be fully determined by the X-ray alone. synonym: "Lytic defects of the humerus" EXACT [] xref: UMLS:C4025536 is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003876 name: Osteoporotic humerus xref: UMLS:C4025535 is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003877 name: Oval transradiancy of humerus synonym: "Humeral oval transradiancy" EXACT [] xref: UMLS:C4025534 is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003878 name: Periosteal new bone of humerus xref: UMLS:C4025533 is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0030314 ! Periostosis [Term] id: HP:0003879 name: Humeral pseudarthrosis synonym: "False joint (long bone in upper arm)" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025532 is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003880 name: Sclerotic foci of the humerus synonym: "Humeral sclerotic foci" EXACT [] xref: UMLS:C4021717 is_a: HP:0003881 ! Humeral sclerosis [Term] id: HP:0003881 name: Humeral sclerosis synonym: "Increased bone density in long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of humerus" EXACT [] xref: UMLS:C4021716 is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0006392 ! Increased density of long bones [Term] id: HP:0003882 name: Slender humerus def: "Reduction in diameter of the humerus." [HPO:probinson] synonym: "Slender long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021851 is_a: HP:0003100 ! Slender long bone is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003883 name: Tapered humerus synonym: "Tapered long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025531 is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003884 name: Triangular humerus synonym: "Triangular long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025530 is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003885 name: Undermodeled humerus xref: UMLS:C4025529 is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003886 name: Wide humerus synonym: "Broad humerus" EXACT [] synonym: "Wide long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021715 is_a: HP:0005622 ! Broad long bones is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003887 name: Abnormality of the humeral heads synonym: "Abnormal head of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025528 is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003888 name: Flattened humeral heads synonym: "Flattended head of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3808869 is_a: HP:0003887 ! Abnormality of the humeral heads [Term] id: HP:0003889 name: Abnormality of the deltoid tuberosities xref: UMLS:C4025527 is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003890 name: Prominent deltoid tuberosities xref: UMLS:C2674600 is_a: HP:0003889 ! Abnormality of the deltoid tuberosities [Term] id: HP:0003891 name: Abnormality of the humeral epiphysis def: "An anomaly of the humeral epiphysis." [HPO:probinson] synonym: "Abnormality of end part of the long bone of the upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the humeral epiphyses" EXACT [] xref: UMLS:C4021714 is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0003839 ! Abnormality of upper limb epiphysis morphology [Term] id: HP:0003892 name: Absent humeral epiphyseal ossification def: "Lack of formation of bone in the epiphysis of the humerus." [HPO:probinson] comment: Normally, the proximal humeral epiphysis can be visualized at about 40 weeks of gestation. synonym: "Absent maturation of end part of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent ossification of the humeral epiphyses" EXACT [] xref: UMLS:C4021713 is_a: HP:0003891 ! Abnormality of the humeral epiphysis is_a: HP:0012791 ! Abnormal humeral ossification [Term] id: HP:0003893 name: Advanced ossification of the humeral epiphysis def: "Ossification of the humeral epiphysis at an earlier age than normal." [HPO:probinson] synonym: "Accelerated maturation of end part of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Advanced maturation of the humeral epiphyses" RELATED [] xref: UMLS:C4020836 xref: UMLS:C4025526 is_a: HP:0003891 ! Abnormality of the humeral epiphysis is_a: HP:0010656 ! Abnormal epiphyseal ossification [Term] id: HP:0003894 name: Delayed humeral epiphyseal ossification def: "A delay in the process of formation and maturation of the humeral epiphysis." [HPO:probinson] synonym: "Delayed maturation of the end part of the long bone in upper arm" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Delayed maturation/delayed ossification of the humeral epiphyses" EXACT [] xref: UMLS:C4021712 xref: UMLS:C4280543 is_a: HP:0003840 ! Delayed upper limb epiphyseal ossification is_a: HP:0003891 ! Abnormality of the humeral epiphysis [Term] id: HP:0003895 name: Flattened humeral epiphyses synonym: "Flattened end part of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025525 is_a: HP:0003071 ! Flattened epiphysis is_a: HP:0003891 ! Abnormality of the humeral epiphysis [Term] id: HP:0003896 name: Irregular humeral epiphyses synonym: "Irregular end part of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025524 is_a: HP:0003842 ! Irregular epiphyses of the upper limbs is_a: HP:0003891 ! Abnormality of the humeral epiphysis [Term] id: HP:0003897 name: Irregular ossification of the humeral epiphyses synonym: "Irregular maturation of the end part of the long bone in upper arm" RELATED layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025523 xref: UMLS:C4280542 is_a: HP:0003891 ! Abnormality of the humeral epiphysis is_a: HP:0010656 ! Abnormal epiphyseal ossification is_a: HP:0012791 ! Abnormal humeral ossification [Term] id: HP:0003898 name: Large humeral epiphyses synonym: "Large end part of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025522 is_a: HP:0003891 ! Abnormality of the humeral epiphysis is_a: HP:0010580 ! Enlarged epiphyses [Term] id: HP:0003899 name: Round humeral epiphyses synonym: "Round end part of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025521 is_a: HP:0003843 ! Round epiphyses of the upper limbs is_a: HP:0003891 ! Abnormality of the humeral epiphysis [Term] id: HP:0003900 name: Small humeral epiphyses synonym: "Small end part of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025520 is_a: HP:0003844 ! Small epiphyses of the upper limbs is_a: HP:0003891 ! Abnormality of the humeral epiphysis [Term] id: HP:0003901 name: Stippled calcification of the humeral epiphyses xref: UMLS:C4025519 is_a: HP:0003891 ! Abnormality of the humeral epiphysis [Term] id: HP:0003902 name: Epiphyseal stippling of the humerus def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis." [HPO:probinson] synonym: "Stippled ossification of the humeral epiphyses" EXACT [] xref: UMLS:C4021711 is_a: HP:0003897 ! Irregular ossification of the humeral epiphyses is_a: HP:0010655 ! Epiphyseal stippling [Term] id: HP:0003903 name: Broad humeral epiphyses def: "Increased width of the humeral epiphysis." [HPO:probinson] synonym: "Wide end part of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide humeral epiphyses" EXACT [] xref: UMLS:C4021710 is_a: HP:0003891 ! Abnormality of the humeral epiphysis is_a: HP:0003904 ! Wide epiphyses of the upper limbs [Term] id: HP:0003904 name: Wide epiphyses of the upper limbs synonym: "Broad epiphyses of the upper limbs" EXACT [] synonym: "Wide end part of upper limb bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021709 is_a: HP:0003839 ! Abnormality of upper limb epiphysis morphology is_a: HP:0010580 ! Enlarged epiphyses [Term] id: HP:0003905 name: Abnormality of the humeral epiphyseal plate synonym: "Abnormality of arm long bone growth plate" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025518 xref: UMLS:C4280541 is_a: HP:0003891 ! Abnormality of the humeral epiphysis [Term] id: HP:0003906 name: Broad humeral epiphyseal plate def: "Increased width of the humeral epiphyseal growth plate." [HPO:probinson] synonym: "Wide humeral epiphyseal plate" EXACT [] synonym: "Wide long bone of arm growth plate" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021708 xref: UMLS:C4280540 is_a: HP:0003846 ! Wide epiphyseal plates of the upper limbs is_a: HP:0003905 ! Abnormality of the humeral epiphyseal plate [Term] id: HP:0003907 name: Abnormality of the humeral metaphyses synonym: "Abnormality of the wide portion of the long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025517 is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0009809 ! Abnormality of upper limb metaphysis [Term] id: HP:0003908 name: Corner fracture of metaphysis def: "Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias." [PMID:15206413, PMID:20544318] comment: A corner fracture is a subepiphyseal planer fracture through immature metaphyseal bone. The appearance of a corner, avulsion or bucket handle depends on the extent of bone failure and radiographic projection. Bone can fail in this pattern from both shearing and tensile stresses. The weakest area of bone for a given loading condition determines the injury threshold for that structure. synonym: "Bucket handle fracture" EXACT [] synonym: "Metaphyseal corner fracture" EXACT [] xref: UMLS:C4025516 is_a: HP:0000944 ! Abnormality of the metaphysis [Term] id: HP:0003909 name: Cortical subperiosteal resorption of humeral metaphyses xref: UMLS:C4025515 is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003910 name: Enlarged humeral metaphyses synonym: "Enlarged wide portion of long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Expanded humeral metaphyses" EXACT [] xref: UMLS:C4021707 is_a: HP:0003051 ! Enlarged metaphyses is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003911 name: Flared humeral metaphysis alt_id: HP:0003925 def: "Flaring (increase of width with a splayed appearance) of the humeral metaphysis." [HPO:probinson] synonym: "Flared humerus" RELATED [] synonym: "Flared wide portion of long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide/broad humeral metaphysis" EXACT [] xref: UMLS:C4020835 xref: UMLS:C4020912 is_a: HP:0003849 ! Flared upper limb metaphysis is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003912 name: Frayed humeral metaphyses xref: UMLS:C4025514 is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003913 name: Humeral metaphyseal irregularity synonym: "Irregular humeral metaphyses" EXACT [] synonym: "Irregular wide portion of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021706 is_a: HP:0003850 ! Upper-limb metaphyseal irregularity is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003914 name: Irregular ossification of humeral metaphyses synonym: "Irregular bone maturation of the wide portion of the long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025513 is_a: HP:0003907 ! Abnormality of the humeral metaphyses is_a: HP:0012791 ! Abnormal humeral ossification [Term] id: HP:0003915 name: Lytic defects of the humeral metaphysis xref: UMLS:C4025512 is_a: HP:0003851 ! Lytic defects in metaphyses of the upper limbs is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003916 name: Normal-density transverse humeral bands comment: Normal-density transverse bands of the humerus xref: UMLS:C4025511 is_a: HP:0003852 ! Normal density transverse bands in metaphyses of the upper limbs is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003917 name: Pointed humeral metaphysis synonym: "Pointed wide portion of long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025510 is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003918 name: Sclerotic humeral metaphysis synonym: "Hardening of wide portion of long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Stiffening of wide portion of long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025509 is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003919 name: Sclerotic humeral metaphysis with longitudinal striations xref: UMLS:C4025508 is_a: HP:0003918 ! Sclerotic humeral metaphysis [Term] id: HP:0003920 name: Sloping humeral metaphysis synonym: "Sloping metaphysis of long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025507 is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003921 name: Laterally sloping humeral metaphysis synonym: "Laterally sloping metaphysis of long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025506 is_a: HP:0003920 ! Sloping humeral metaphysis [Term] id: HP:0003922 name: Spurred humeral metaphysis synonym: "Spurred metaphysis of long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025505 is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003923 name: Square humeral metaphysis synonym: "Square metaphysis of long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025504 is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003924 name: Stippled calcification of humeral metaphysis synonym: "Speckled calcification in metaphysis of long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025503 is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003926 name: Abnormality of the humeral diaphysis def: "An anomaly of the humeral diaphysis." [HPO:probinson] synonym: "Abnormality of shaft of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025502 is_a: HP:0009808 ! Anomaly of the upper limb diaphyses is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0003927 name: Cortical irregularity of humeral diaphysis def: "An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus." [HPO:curators] xref: UMLS:C4025501 is_a: HP:0003858 ! Cortical diaphyseal irregularity of the upper limbs is_a: HP:0003867 ! Humeral cortical irregularity is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003928 name: Cortical thickening of humeral diaphysis xref: UMLS:C4025500 is_a: HP:0003859 ! Cortical diaphyseal thickening of the upper limbs is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003929 name: Ground glass opacity of humeral diaphysis xref: UMLS:C4025499 is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003930 name: Lytic defects of humeral diaphysis synonym: "Humeral diaphyseal lysis" EXACT [] xref: UMLS:C4021705 is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003931 name: Periosteal new bone of humeral diaphysis xref: UMLS:C4025498 is_a: HP:0003926 ! Abnormality of the humeral diaphysis is_a: HP:0030314 ! Periostosis [Term] id: HP:0003932 name: Sclerotic foci of humeral diaphysis xref: UMLS:C4025497 is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003933 name: Sclerosis of humeral diaphysis synonym: "Increased bone density in shaft of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025496 is_a: HP:0003860 ! Diaphyseal sclerosis of the upper limbs is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003934 name: Slender humeral diaphysis synonym: "Slender shaft of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025495 is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003935 name: Wide humeral diaphysis def: "Increased width of the humeral diaphysis." [HPO:probinson] synonym: "Broad humeral diaphysis" EXACT [] synonym: "Broad shaft of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide shaft of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021704 is_a: HP:0003861 ! Broad diaphyses of the upper limbs is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003938 name: Synostosis involving the elbow synonym: "Bone fusion involving the elbow" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025494 is_a: HP:0009811 ! Abnormality of the elbow is_a: HP:0100238 ! Synostosis involving bones of the upper limbs [Term] id: HP:0003939 name: Humeroulnar synostosis def: "An abnormal osseous union (fusion) between the ulna and the humerus." [HPO:curators] synonym: "Humeral ulnar synostosis" EXACT [] xref: SNOMEDCT_US:205330003 xref: UMLS:C0431799 is_a: HP:0003938 ! Synostosis involving the elbow is_a: HP:0100745 ! Abnormality of the humeroulnar joint [Term] id: HP:0003940 name: Osteoarthritis of the elbow xref: SNOMEDCT_US:239866002 xref: UMLS:C0409954 is_a: HP:0002758 ! Osteoarthritis is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003941 name: Stippled calcification of the elbow xref: UMLS:C4025493 is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003942 name: Synovial chondromatosis of the elbow xref: UMLS:C4025492 is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003943 name: Abnormality of the joint spaces of the elbow synonym: "Abnormality of the joint spaces of the elbow" EXACT layperson [] xref: UMLS:C4025491 is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003944 name: Narrow joint spaces of the elbow synonym: "Narrow joint spaces of the elbow" EXACT layperson [] xref: UMLS:C4025490 is_a: HP:0003943 ! Abnormality of the joint spaces of the elbow [Term] id: HP:0003945 name: Irregular articular surfaces of the elbow joints xref: UMLS:C4025489 is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003946 name: Abnormality of the epiphyses of the elbow synonym: "Abnormality of end part of the elbow bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025488 is_a: HP:0003839 ! Abnormality of upper limb epiphysis morphology is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003947 name: Delayed elbow epiphyseal ossification def: "A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow." [HPO:probinson] synonym: "Delayed maturation of the end part of the elbow bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025487 is_a: HP:0003840 ! Delayed upper limb epiphyseal ossification is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow [Term] id: HP:0003948 name: Irregular epiphyses of the elbow synonym: "Irregular end part of the elbow bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025486 is_a: HP:0003842 ! Irregular epiphyses of the upper limbs is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow [Term] id: HP:0003949 name: Abnormality of the elbow metaphyses synonym: "Abnormal wide portion of elbow bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025485 is_a: HP:0009809 ! Abnormality of upper limb metaphysis is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003950 name: Flared elbow metaphyses synonym: "Flared wide portion of elbow bone" EXACT layperson [] xref: UMLS:C4025484 is_a: HP:0003849 ! Flared upper limb metaphysis is_a: HP:0003949 ! Abnormality of the elbow metaphyses [Term] id: HP:0003951 name: Distal humeral metaphyseal irregularity def: "Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow)." [HPO:probinson] synonym: "Irregular metaphyses of elbow" EXACT [] synonym: "Irregular wide portion of elbow bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021703 is_a: HP:0003913 ! Humeral metaphyseal irregularity is_a: HP:0003949 ! Abnormality of the elbow metaphyses [Term] id: HP:0003952 name: Sclerotic foci of metaphyses of the elbow synonym: "Vertical linear mixed lucent and sclerotic pattern of metaphyses" EXACT [] xref: UMLS:C4021702 is_a: HP:0003854 ! Sclerosis of metaphyses of the upper limbs is_a: HP:0003949 ! Abnormality of the elbow metaphyses [Term] id: HP:0003953 name: Absent forearm bone def: "Absence of one or more forearm bones associated with congenital failure of development." [HPO:probinson] synonym: "Absent forearm bone" EXACT layperson [] synonym: "Aplasia of the forearm bones" EXACT [] xref: UMLS:C4021701 is_a: HP:0006503 ! Aplasia/hypoplasia involving forearm bones [Term] id: HP:0003954 name: Angulated forearm bones synonym: "Angulated forearm bones" EXACT layperson [] xref: UMLS:C4025483 is_a: HP:0040073 ! Abnormal forearm bone morphology [Term] id: HP:0003955 name: Bone-in-a-bone appearance of forearm def: "A descriptive term for a forearm bone that appears to have an additional bone within it on radiography." [HPO:probinson] synonym: "Bone-in-a-bone appearance of forearm" EXACT layperson [] xref: UMLS:C4025482 is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003956 name: Bowed forearm bones def: "A bending or abnormal curvature affecting either the radius, the ulna, or both." [HPO:probinson] synonym: "Bowed forearm bones" EXACT layperson [] xref: UMLS:C4025481 is_a: HP:0006488 ! Bowing of the arm is_a: HP:0040073 ! Abnormal forearm bone morphology [Term] id: HP:0003957 name: Cortical thickening of the forearm bones xref: UMLS:C4021842 is_a: HP:0040065 ! Abnormal morphology of bones of the upper limbs is_a: HP:0040072 ! Abnormality of forearm bone [Term] id: HP:0003958 name: Cross-fusion of the forearm bones xref: UMLS:C4025480 is_a: HP:0040072 ! Abnormality of forearm bone [Term] id: HP:0003959 name: Deformed forearm bones synonym: "Deformed forearm bones" EXACT layperson [] xref: UMLS:C4025479 is_a: HP:0040073 ! Abnormal forearm bone morphology [Term] id: HP:0003960 name: Exostoses of the forearm bones xref: UMLS:C4025478 is_a: HP:0040072 ! Abnormality of forearm bone is_a: HP:0100777 ! Exostoses [Term] id: HP:0003961 name: Fractured forearm bones synonym: "Fractured forearm bones" EXACT layperson [] xref: UMLS:C4025477 is_a: HP:0003330 ! Abnormal bone structure is_a: HP:0040073 ! Abnormal forearm bone morphology [Term] id: HP:0003963 name: Lytic defects of the forearm bones xref: UMLS:C4025476 is_a: HP:0040072 ! Abnormality of forearm bone [Term] id: HP:0003964 name: Osteoporotic forearm bones xref: UMLS:C4025475 is_a: HP:0040072 ! Abnormality of forearm bone [Term] id: HP:0003965 name: Pseudarthrosis of the forearm bones xref: UMLS:C4025474 is_a: HP:0040072 ! Abnormality of forearm bone [Term] id: HP:0003966 name: Sclerotic foci in forearm bones xref: UMLS:C4025473 is_a: HP:0040072 ! Abnormality of forearm bone [Term] id: HP:0003967 name: Sclerotic forearm bones synonym: "Increased bone density of forearm bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025472 is_a: HP:0040072 ! Abnormality of forearm bone [Term] id: HP:0003969 name: Slender forearm bones xref: UMLS:C4025471 is_a: HP:0040073 ! Abnormal forearm bone morphology [Term] id: HP:0003970 name: Undermodelled forearm bones xref: UMLS:C4025470 is_a: HP:0040072 ! Abnormality of forearm bone [Term] id: HP:0003971 name: Broad forearm bones def: "Abnormally wide bone of the skeleton of forearm." [HPO:probinson] synonym: "Broad forearm bones" EXACT layperson [] synonym: "Wide forearm bones" EXACT layperson [] xref: UMLS:C4021700 is_a: HP:0040073 ! Abnormal forearm bone morphology [Term] id: HP:0003973 name: Wide radioulnar joints synonym: "Broad radioulnar joints" EXACT [] xref: UMLS:C4021699 is_a: HP:0003037 ! Enlarged joints is_a: HP:0003059 ! Abnormality of the radioulnar joints [Term] id: HP:0003974 name: Absent radius alt_id: HP:0002819 alt_id: HP:0005012 def: "Missing radius bone associated with congenital failure of development." [HPO:probinson] subset: hposlim_core synonym: "absence of radius and ulna" EXACT [] synonym: "Absent ossification/absence of radius" EXACT [] synonym: "Aplasia of the radius" EXACT [] synonym: "Missing outer large bone of forearm" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Radial aplasia" EXACT [] xref: UMLS:C1405984 xref: UMLS:C1838608 xref: UMLS:C1849314 is_a: HP:0003953 ! Absent forearm bone is_a: HP:0006501 ! Aplasia/Hypoplasia of the radius is_a: HP:0009822 ! Aplasia involving forearm bones [Term] id: HP:0003975 name: obsolete Chevron-shaped/cone-shaped radius is_obsolete: true replaced_by: HP:0004000 [Term] id: HP:0003976 name: Constricted radius xref: UMLS:C4025468 is_a: HP:0003330 ! Abnormal bone structure is_a: HP:0045009 ! Abnormal morphology of the radius [Term] id: HP:0003977 name: Deformed radius alt_id: HP:0005046 xref: UMLS:C4025467 is_a: HP:0003959 ! Deformed forearm bones is_a: HP:0045009 ! Abnormal morphology of the radius [Term] id: HP:0003978 name: Fractured radius xref: MSH:D011885 xref: SNOMEDCT_US:12676007 xref: UMLS:C0034628 is_a: HP:0003084 ! Fractures of the long bones is_a: HP:0003961 ! Fractured forearm bones is_a: HP:0045009 ! Abnormal morphology of the radius [Term] id: HP:0003979 name: Lytic defects of the radius xref: UMLS:C4021841 is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0003963 ! Lytic defects of the forearm bones [Term] id: HP:0003980 name: Pseudarthrosis of the radius xref: UMLS:C4025466 is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0003965 ! Pseudarthrosis of the forearm bones [Term] id: HP:0003981 name: Broad radius def: "Increased width of the radius." [HPO:probinson] synonym: "Wide radius" EXACT [] xref: UMLS:C4021698 is_a: HP:0003971 ! Broad forearm bones is_a: HP:0005622 ! Broad long bones is_a: HP:0045009 ! Abnormal morphology of the radius [Term] id: HP:0003982 name: Aplasia of the ulna def: "Missing ulna bone associated with congenital failure of development." [HPO:probinson] subset: hposlim_core synonym: "Absent ossification/absent ulna" EXACT [] synonym: "Absent ulna" EXACT [] synonym: "Absent ulnae" RELATED [HPO:skoehler] xref: UMLS:C2678397 is_a: HP:0003953 ! Absent forearm bone is_a: HP:0006495 ! Aplasia/Hypoplasia of the ulna is_a: HP:0009822 ! Aplasia involving forearm bones [Term] id: HP:0003984 name: Posteriorly dislocated ulna xref: UMLS:C4025465 is_a: HP:0002997 ! Abnormality of the ulna [Term] id: HP:0003985 name: Exostoses of the ulna xref: UMLS:C4025464 is_a: HP:0002997 ! Abnormality of the ulna is_a: HP:0003960 ! Exostoses of the forearm bones [Term] id: HP:0003986 name: Exostoses of the radius xref: UMLS:C4025463 is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0003960 ! Exostoses of the forearm bones [Term] id: HP:0003987 name: Fractured ulna xref: MSH:D014458 xref: SNOMEDCT_US:54556006 xref: UMLS:C0041601 is_a: HP:0002997 ! Abnormality of the ulna is_a: HP:0003084 ! Fractures of the long bones is_a: HP:0003961 ! Fractured forearm bones [Term] id: HP:0003988 name: Long ulna alt_id: HP:0006435 def: "Increased length of the ulna." [HPO:probinson] subset: hposlim_core synonym: "Disproportionately long ulnae" EXACT [] xref: UMLS:C1848108 is_a: HP:0002997 ! Abnormality of the ulna [Term] id: HP:0003989 name: Notched ulna xref: UMLS:C4025462 is_a: HP:0002997 ! Abnormality of the ulna [Term] id: HP:0003990 name: Pointed ulna xref: UMLS:C4025461 is_a: HP:0002997 ! Abnormality of the ulna [Term] id: HP:0003991 name: Osteosclerosis of the ulna def: "Osteosclerosis (increased density related to increased bone mass) of the ulna." [HPO:curators] synonym: "Sclerotic ulna" EXACT [] xref: UMLS:C4021697 is_a: HP:0002997 ! Abnormality of the ulna is_a: HP:0003967 ! Sclerotic forearm bones is_a: HP:0006392 ! Increased density of long bones [Term] id: HP:0003992 name: Slender ulna def: "Reduction in diameter of the ulna." [HPO:probinson] xref: UMLS:C1968814 is_a: HP:0002997 ! Abnormality of the ulna is_a: HP:0003100 ! Slender long bone is_a: HP:0003969 ! Slender forearm bones [Term] id: HP:0003993 name: Broad ulna alt_id: HP:0200081 def: "Increased width of the ulna." [HPO:probinson] synonym: "Wide ulna" RELATED [] xref: UMLS:C4020692 xref: UMLS:C4025460 is_a: HP:0003971 ! Broad forearm bones is_a: HP:0005622 ! Broad long bones is_a: HP:0040071 ! Abnormal morphology of ulna [Term] id: HP:0003994 name: Dislocated wrist alt_id: HP:0004992 def: "An injury of the wrist with displacement of any of the eight carpal bones." [HPO:probinson] synonym: "Dislocated wrist" EXACT layperson [] synonym: "Dislocations of the wrists" EXACT layperson [] xref: MEDDRA:10013184 "Dislocation of wrist" xref: SNOMEDCT_US:125618007 xref: UMLS:C0159941 is_a: HP:0003019 ! Abnormality of the wrist is_a: HP:0030310 ! Upper extremity joint dislocation [Term] id: HP:0003995 name: Abnormality of the radial head synonym: "Deformity of radial heads" EXACT [] xref: UMLS:C4021696 is_a: HP:0002818 ! Abnormality of the radius [Term] id: HP:0003996 name: Flattened radial head xref: UMLS:C4025459 is_a: HP:0003995 ! Abnormality of the radial head [Term] id: HP:0003997 name: Hypoplastic radial head synonym: "Small radial head" EXACT [] xref: UMLS:C4021695 is_a: HP:0003995 ! Abnormality of the radial head [Term] id: HP:0003998 name: Constricted radial neck xref: UMLS:C4025458 is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0003999 name: Abnormality of radial epiphyses alt_id: HP:0004011 synonym: "Abnormality of radial epiphyseal plates" EXACT [] xref: UMLS:C4021694 is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0003839 ! Abnormality of upper limb epiphysis morphology [Term] id: HP:0004000 name: Cone-shaped distal radial epiphysis alt_id: HP:0003975 def: "The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance." [] comment: The phrase chevron-shaped (having the shape of a V or an inverted V) is synonymous. synonym: "Chevron-shaped distal radial epiphysis" EXACT [] xref: UMLS:C4025457 is_a: HP:0003999 ! Abnormality of radial epiphyses is_a: HP:0010579 ! Cone-shaped epiphysis [Term] id: HP:0004001 name: Medially deficient radial epiphyses xref: UMLS:C4025456 is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004002 name: Flattened radial epiphyses xref: UMLS:C4025455 is_a: HP:0003071 ! Flattened epiphysis is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004003 name: Medially flattened radial epiphyses xref: UMLS:C4025454 is_a: HP:0004002 ! Flattened radial epiphyses [Term] id: HP:0004004 name: Irregular radial epiphyses xref: UMLS:C4025453 is_a: HP:0003999 ! Abnormality of radial epiphyses is_a: HP:0010582 ! Irregular epiphyses [Term] id: HP:0004005 name: Large radial epiphyses xref: UMLS:C4025452 is_a: HP:0003999 ! Abnormality of radial epiphyses is_a: HP:0010580 ! Enlarged epiphyses [Term] id: HP:0004006 name: Round radial epiphyses xref: UMLS:C4025451 is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004007 name: Sclerotic radial epiphyses xref: UMLS:C4025450 is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004008 name: Sloping radial epiphyses xref: UMLS:C4025449 is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004009 name: Medially sloping radial epiphyses xref: UMLS:C4025448 is_a: HP:0004008 ! Sloping radial epiphyses [Term] id: HP:0004010 name: Small radial epiphyses xref: UMLS:C4025447 is_a: HP:0003999 ! Abnormality of radial epiphyses is_a: HP:0010585 ! Small epiphyses [Term] id: HP:0004012 name: Premature fusion of the radial epiphyseal plates def: "A premature fusion of the epiphyseal plates of the radius. Epiphyseal plates are located at the distal and proximal ends of the long bones, in this case of the radius and premature fusion will have an effect on the growh of the radial bone, inhibiting or at least disturbing the normal growth and development of the bone." [HPO:sdoelken] comment: The epiphyseal plate (or epiphysial plate, physis, or growth plate) is a hyaline cartilage plate in the metaphysis at each end of a long bone. The plate is found in children and adolescents; in adults, who have stopped growing, the plate is replaced by an epiphyseal line. The growth plate has a very specific morphology in having a zonal arrangement. The growth plate includes a relatively inactive reserve zone at the epiphyseal end, moving distally into a proliferative and then hyper trophic zone and ending with a band of ossifying cartilage (the metaphysis). xref: UMLS:C4025446 is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004013 name: Medially fused radial epiphyseal plates xref: UMLS:C4025445 is_a: HP:0004012 ! Premature fusion of the radial epiphyseal plates [Term] id: HP:0004014 name: Broad radial epiphyseal plate def: "Abnormal increase in width of the epiphyseal growth plate of the radius." [HPO:probinson] synonym: "Wide radial epiphyseal plates" EXACT [] xref: UMLS:C4021693 is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004015 name: Abnormality of radial metaphyses xref: UMLS:C4025444 is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0009809 ! Abnormality of upper limb metaphysis [Term] id: HP:0004016 name: Cupped radial metaphyses xref: UMLS:C4025443 is_a: HP:0003848 ! Cupped metaphyses of the upper limbs is_a: HP:0004015 ! Abnormality of radial metaphyses [Term] id: HP:0004017 name: Exostoses of the radial metaphysis xref: UMLS:C4025442 is_a: HP:0003986 ! Exostoses of the radius is_a: HP:0004015 ! Abnormality of radial metaphyses [Term] id: HP:0004018 name: Flared radial metaphysis def: "The presence of a splayed (i.e.,flared) metaphyseal segment of the radius." [HPO:probinson] synonym: "Broadening of the distal radius" RELATED [] xref: UMLS:C4025441 is_a: HP:0003849 ! Flared upper limb metaphysis is_a: HP:0004015 ! Abnormality of radial metaphyses [Term] id: HP:0004019 name: Radial metaphyseal irregularity def: "Irregularity of the normally smooth surface of the metaphysis of the radius." [HPO:probinson] synonym: "Irregular radial metaphysis" EXACT [] xref: UMLS:C4021692 is_a: HP:0003850 ! Upper-limb metaphyseal irregularity is_a: HP:0004015 ! Abnormality of radial metaphyses [Term] id: HP:0004020 name: Irregular ossification of the radial metaphysis xref: UMLS:C4025440 is_a: HP:0003336 ! Abnormal enchondral ossification is_a: HP:0004015 ! Abnormality of radial metaphyses [Term] id: HP:0004021 name: Lytic defects of radial metaphysis xref: UMLS:C4025439 is_a: HP:0003851 ! Lytic defects in metaphyses of the upper limbs is_a: HP:0004015 ! Abnormality of radial metaphyses [Term] id: HP:0004022 name: Sclerotic radial metaphysis with longitudinal striations xref: UMLS:C4025438 is_a: HP:0003854 ! Sclerosis of metaphyses of the upper limbs is_a: HP:0004015 ! Abnormality of radial metaphyses [Term] id: HP:0004023 name: Sloping radial metaphysis xref: UMLS:C4025437 is_a: HP:0004015 ! Abnormality of radial metaphyses [Term] id: HP:0004024 name: Medially sloping radial metaphysis xref: UMLS:C4025436 is_a: HP:0004023 ! Sloping radial metaphysis [Term] id: HP:0004025 name: Spurred radial metaphysis xref: UMLS:C4025435 is_a: HP:0004015 ! Abnormality of radial metaphyses [Term] id: HP:0004026 name: Broad radial metaphysis def: "Increase in width (breadth) of the radial metaphysis." [HPO:probinson] synonym: "Wide radial metaphysis" EXACT [] xref: UMLS:C4021691 is_a: HP:0003856 ! Upper limb metaphyseal widening is_a: HP:0003981 ! Broad radius is_a: HP:0004015 ! Abnormality of radial metaphyses [Term] id: HP:0004027 name: Abnormality of radial diaphysis def: "An anomaly of the radial diaphysis." [HPO:probinson] xref: UMLS:C4025434 is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0009808 ! Anomaly of the upper limb diaphyses [Term] id: HP:0004028 name: Spurs of radial diaphysis xref: UMLS:C4025433 is_a: HP:0004027 ! Abnormality of radial diaphysis [Term] id: HP:0004029 name: Lytic defects of radial diaphysis xref: UMLS:C4025432 is_a: HP:0004027 ! Abnormality of radial diaphysis [Term] id: HP:0004030 name: Patchy sclerosis of radial diaphysis xref: UMLS:C4025431 is_a: HP:0004027 ! Abnormality of radial diaphysis [Term] id: HP:0004031 name: Broad radial diaphysis def: "Increase in width of the diaphysis of radius." [HPO:probinson] comment: Increased diameter of the shaft (diaphysis) of the radius. synonym: "Wide radial diaphysis" EXACT [] xref: UMLS:C4021690 is_a: HP:0004027 ! Abnormality of radial diaphysis [Term] id: HP:0004032 name: Abnormality of the olecranon xref: UMLS:C4025430 is_a: HP:0002997 ! Abnormality of the ulna [Term] id: HP:0004033 name: Curved olecranon xref: UMLS:C4025429 is_a: HP:0004032 ! Abnormality of the olecranon [Term] id: HP:0004034 name: Irregular olecranon xref: UMLS:C4025428 is_a: HP:0004032 ! Abnormality of the olecranon [Term] id: HP:0004035 name: Abnormality of the styloid process of ulna xref: UMLS:C4025427 is_a: HP:0004037 ! Abnormality of the ulnar epiphyses [Term] id: HP:0004036 name: Long styloid process of ulna xref: UMLS:C4025426 is_a: HP:0004035 ! Abnormality of the styloid process of ulna [Term] id: HP:0004037 name: Abnormality of the ulnar epiphyses synonym: "Abnormality of the epiphyseal plate of the ulna" EXACT [] xref: UMLS:C4021689 is_a: HP:0002997 ! Abnormality of the ulna is_a: HP:0003839 ! Abnormality of upper limb epiphysis morphology [Term] id: HP:0004038 name: Bony spicule of ulnar epiphyseal plate xref: UMLS:C4025425 is_a: HP:0004037 ! Abnormality of the ulnar epiphyses [Term] id: HP:0004039 name: Abnormality of ulnar metaphysis xref: UMLS:C4025424 is_a: HP:0002997 ! Abnormality of the ulna is_a: HP:0009809 ! Abnormality of upper limb metaphysis [Term] id: HP:0004040 name: Corner fragments of ulnar metaphysis xref: UMLS:C4025423 is_a: HP:0004039 ! Abnormality of ulnar metaphysis [Term] id: HP:0004041 name: Cupped ulnar metaphysis xref: UMLS:C4025422 is_a: HP:0004039 ! Abnormality of ulnar metaphysis [Term] id: HP:0004042 name: Ulnar metaphyseal irregularity def: "Irregularity of the normally smooth surface of the metaphysis of the ulna." [HPO:probinson] synonym: "Irregular ulnar metaphysis" EXACT [] xref: UMLS:C4021688 is_a: HP:0003850 ! Upper-limb metaphyseal irregularity is_a: HP:0004039 ! Abnormality of ulnar metaphysis [Term] id: HP:0004043 name: Lytic defects of ulnar metaphysis xref: UMLS:C4025421 is_a: HP:0004039 ! Abnormality of ulnar metaphysis is_a: HP:0045039 ! Osteolysis involving bones of the upper limbs [Term] id: HP:0004044 name: Pointed ulnar metaphysis xref: UMLS:C4025420 is_a: HP:0004039 ! Abnormality of ulnar metaphysis [Term] id: HP:0004045 name: Sloping ulnar metaphysis def: "A sloped configuration of the metaphysis (shaft) of the ulna." [HPO:curators] xref: UMLS:C4025419 is_a: HP:0004039 ! Abnormality of ulnar metaphysis [Term] id: HP:0004046 name: Spurred ulnar metaphysis xref: UMLS:C4025418 is_a: HP:0003855 ! Spurred metaphyses of the upper limbs is_a: HP:0004039 ! Abnormality of ulnar metaphysis [Term] id: HP:0004047 name: Wide ulnar metaphysis def: "Increase in width (breadth) of the ulnar metaphysis." [HPO:probinson] synonym: "Broad ulnar metaphysis" EXACT [] xref: UMLS:C4021687 is_a: HP:0003856 ! Upper limb metaphyseal widening is_a: HP:0004039 ! Abnormality of ulnar metaphysis [Term] id: HP:0004048 name: Narrow joint spaces of wrist xref: UMLS:C4025417 is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0004049 name: Decreased carpal angles of wrist xref: UMLS:C4025416 is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0004050 name: Absent hand def: "The total absence of the hand, with no bony elements distal to the radius or ulna." [pmid:19125433] subset: hposlim_core synonym: "Absent hand" EXACT layperson [] synonym: "Acheiria" EXACT [] xref: SNOMEDCT_US:371199008 xref: UMLS:C0265594 is_a: HP:0005927 ! Aplasia/hypoplasia involving bones of the hand [Term] id: HP:0004051 name: Advanced ossification of the hand bones def: "Ossification of hand bones at an earlier age than normal." [HPO:probinson] synonym: "Accelerated maturation of hand bones" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Advanced maturation of the hand bones" RELATED [] xref: UMLS:C4020834 is_a: HP:0010660 ! Abnormal hand bone ossification [Term] id: HP:0004052 name: Delayed ossification of the hand bones def: "Ossification of hand bones is less advanced than would be expected according to age-adjusted norms." [HPO:probinson] synonym: "Delay maturation/delayed ossification of the hand" EXACT [] synonym: "Delayed maturation of the hand bones" RELATED layperson [] xref: UMLS:C4020833 xref: UMLS:C4021686 is_a: HP:0010660 ! Abnormal hand bone ossification [Term] id: HP:0004053 name: Dysharmonic maturation of the hand bones alt_id: HP:0006204 def: "Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand." [HPO:probinson] synonym: "Disharmonic maturation of the hand bones" EXACT [] synonym: "Dysharmonic ossification of the hand bones" EXACT [] xref: UMLS:C4021685 is_a: HP:0010660 ! Abnormal hand bone ossification [Term] id: HP:0004054 name: Sclerosis of hand bone alt_id: HP:0004055 def: "Osteosclerosis affecting one or more bones of the hand." [HPO:probinson] synonym: "Generalized sclerosis of hand bones" EXACT [] synonym: "Hand bone sclerosis" EXACT [] synonym: "Increased bone density in hand bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021684 is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0004057 name: Mitten deformity def: "Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a \"mitten\" hand deformity." [HPO:probinson, pmid:20301304] comment: Mitten deformity is also referred to as pseudosyndactyly, which should not be confused with true syndactyly (actual and complete fusion of fingers). Antenatally, pseudosyndactyly can be misinterpreted as syndactyly. synonym: "Pseudosyndactyly" EXACT [] xref: UMLS:C1969236 is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0004058 name: Hand monodactyly xref: UMLS:C4025415 is_a: HP:0001180 ! Hand oligodactyly [Term] id: HP:0004059 name: Radial club hand def: "Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius." [HPO:probinson] synonym: "Radial dysplasia" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4025414 is_a: HP:0006501 ! Aplasia/Hypoplasia of the radius is_a: HP:0009486 ! Radial deviation of the hand [Term] id: HP:0004060 name: Trident hand def: "A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits." [HPO:probinson] comment: This abnormality is often seen in patients with achondroplasia. subset: hposlim_core synonym: "trident abnormality" EXACT [] synonym: "trident deformity" EXACT [] xref: SNOMEDCT_US:249755001 xref: UMLS:C0426874 is_a: HP:0001167 ! Abnormality of finger [Term] id: HP:0004066 name: obsolete Laterally deviated thumb phalanges is_obsolete: true consider: HP:0009602 [Term] id: HP:0004083 name: obsolete Laterally deviated terminal thumb phalanx is_obsolete: true consider: HP:0005895 [Term] id: HP:0004090 name: obsolete Advanced maturation/advanced ossification of terminal thumb phalanx epiphysis is_obsolete: true consider: HP:0009662 [Term] id: HP:0004095 name: Curved fingers synonym: "Curved fingers" EXACT layperson [] xref: UMLS:C4025413 is_a: HP:0001167 ! Abnormality of finger is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0004097 name: Deviation of finger alt_id: HP:0006229 def: "Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges." [HPO:curators] synonym: "Atypical position of finger" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Deviated fingers" EXACT [] synonym: "Finger pointing in a different direction than usual" EXACT layperson [] xref: SNOMEDCT_US:203556007 xref: SNOMEDCT_US:26517000 xref: UMLS:C0410740 is_a: HP:0001167 ! Abnormality of finger is_a: HP:0009484 ! Deviation of the hand or of fingers of the hand [Term] id: HP:0004099 name: Macrodactyly def: "Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit." [pmid:19125433] comment: There are no recognized standards for the girth of digits and this finding can vary substantially in the population. This assessment relies on the judgment of the examiner to recognize when the difference between the expected and the observed is significant. The affected digits should be specified. The definition does not mandate the component of the increased size (bone, connective tissue, etc.), but should exclude edema. The requirement that the girth is most, or all, of the digit is intended to distinguish this from broad fingertips. This should be distinguished from Broad fingers or Broad fingertips as the girth is circumferential in macrodactyly, which is not the case for broad fingers or broad fingertips, which are increased only (or predominantly) in their lateral (A/P) width. subset: hposlim_core synonym: "Finger overgrowth" EXACT layperson [HPO:sdoelken] synonym: "Megalodactyly" EXACT [] xref: MEDDRA:10025386 "Macrodactyly" xref: MSH:C562546 xref: SNOMEDCT_US:48449000 xref: UMLS:C0265552 is_a: HP:0011297 ! Abnormal digit morphology [Term] id: HP:0004100 name: Abnormal 2nd finger morphology def: "An anomaly of the second finger, also known as the index finger." [HPO:probinson] synonym: "Abnormality of index finger" EXACT layperson [] synonym: "Abnormality of the 2nd finger" EXACT [] xref: UMLS:C4021683 is_a: HP:0001167 ! Abnormality of finger [Term] id: HP:0004110 name: obsolete Radially deviated index finger phalanges is_obsolete: true consider: HP:0009542 [Term] id: HP:0004112 name: Midline nasal groove def: "An abnormal groove on the midline of the nose that may extend to the nasal tip." [HPO:sdoelken] synonym: "Central nasal groove" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Midline nasal groove" EXACT layperson [] xref: UMLS:C4025412 is_a: HP:0004122 ! Midline defect of the nose created_by: peter creation_date: 2009-01-21T04:59:08Z [Term] id: HP:0004121 name: obsolete Radially displaced proximal index finger phalanx is_obsolete: true consider: HP:0009544 [Term] id: HP:0004122 name: Midline defect of the nose alt_id: HP:0003190 def: "This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip." [HPO:sdoelken] synonym: "Central cleft of nose" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Central defect of nose" EXACT [ORCID:0000-0001-5889-4463] synonym: "Central nasal defect" EXACT [ORCID:0000-0001-5889-4463] synonym: "Midline cleft of nose" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Midline defect of the nose" EXACT layperson [] synonym: "Midline nasal defect" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025411 xref: UMLS:C4280539 is_a: HP:0005105 ! Abnormal nasal morphology created_by: peter creation_date: 2009-01-21T04:59:54Z [Term] id: HP:0004132 name: Dimple on nasal tip def: "An abnormal indentation of the skin in the region of the nasal tip." [HPO:sdoelken] synonym: "Dimple on nasal tip" EXACT layperson [] synonym: "Dimpled tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1863349 is_a: HP:0000436 ! Abnormality of the nasal tip created_by: peter creation_date: 2009-01-21T05:05:55Z [Term] id: HP:0004138 name: obsolete Metaphyseal abnormality of middle phalanx of the 2nd finger is_obsolete: true consider: HP:0009541 [Term] id: HP:0004139 name: obsolete Flared metaphysis of middle phalanx of index finger is_obsolete: true consider: HP:0009569 [Term] id: HP:0004143 name: obsolete Radially deviated terminal index finger phalanx is_obsolete: true consider: HP:0009542 [Term] id: HP:0004144 name: obsolete Duplication of terminal index finger phalanx is_obsolete: true replaced_by: HP:0009948 [Term] id: HP:0004150 name: Abnormal 3rd finger morphology def: "An anomaly of the third finger." [HPO:probinson] synonym: "Abnormality of the 3rd finger" EXACT [] synonym: "Abnormality of the middle finger" EXACT [] xref: UMLS:C4021682 is_a: HP:0001167 ! Abnormality of finger [Term] id: HP:0004153 name: obsolete Overgrowth of middle finger is_obsolete: true consider: HP:0009316 [Term] id: HP:0004157 name: obsolete Accessory middle-finger phalanges is_obsolete: true replaced_by: HP:0009963 [Term] id: HP:0004161 name: obsolete Periosteal new bone of middle finger phalanges is_obsolete: true consider: HP:0009316 [Term] id: HP:0004162 name: obsolete Radially pointed middle finger phalanges is_obsolete: true consider: HP:0009316 [Term] id: HP:0004168 name: obsolete Radially pointed proximal middle-finger phalanx is_obsolete: true consider: HP:0009316 [Term] id: HP:0004172 name: Abnormality of the middle phalanx of the 3rd finger synonym: "Abnormal middle finger bone of the middle finger" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4025410 is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology [Term] id: HP:0004174 name: obsolete Accessory middle phalanx of middle finger is_obsolete: true replaced_by: HP:0009963 [Term] id: HP:0004175 name: obsolete Periosteal new bone of middle phalanx of middle-finger is_obsolete: true consider: HP:0004172 [Term] id: HP:0004180 name: Short distal phalanx of the 3rd finger alt_id: HP:0004182 def: "Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger." [HPO:sdoelken] synonym: "Hypoplastic/small distal phalanx of the 3rd finger" EXACT [] synonym: "Short distal phalanx of the third finger" EXACT [] synonym: "Short outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short terminal phalanx of middle finger" EXACT [] xref: UMLS:C4021681 is_a: HP:0009421 ! Aplasia/Hypoplasia of the distal phalanx of the 3rd finger is_a: HP:0009461 ! Short 3rd finger is_a: HP:0009882 ! Short distal phalanx of finger [Term] id: HP:0004183 name: obsolete Abnormality of the epiphyses of the terminal phalanx of the middle finger is_obsolete: true consider: HP:0009357 [Term] id: HP:0004184 name: obsolete Cone-shaped epiphysis of terminal phalanx of the middle finger is_obsolete: true consider: HP:0009423 [Term] id: HP:0004185 name: obsolete Fused epiphysis of terminal phalanx of the middle finger is_obsolete: true consider: HP:0009316 [Term] id: HP:0004186 name: obsolete Large epiphysis of terminal phalanx of the middle finger is_obsolete: true consider: HP:0009316 [Term] id: HP:0004187 name: obsolete Prematurely fused epiphysis of terminal phalanx of the middle finger is_obsolete: true consider: HP:0009316 [Term] id: HP:0004188 name: Abnormal 4th finger morphology synonym: "Abnormality of the 4th finger" EXACT [] synonym: "Abnormality of the ring finger" EXACT [] xref: UMLS:C4021680 is_a: HP:0001167 ! Abnormality of finger [Term] id: HP:0004192 name: obsolete Bracket epiphyses of the 4th finger is_obsolete: true replaced_by: HP:0009394 [Term] id: HP:0004193 name: obsolete Expanded phalanges of the ring finger is_obsolete: true consider: HP:0009172 [Term] id: HP:0004194 name: obsolete Hypoplastic phalanges of the ring finger is_obsolete: true consider: HP:0009408 [Term] id: HP:0004195 name: Osteolytic defects of the phalanges of the 4th finger def: "Osteolytic defects of the phalanges of the 4th (ring) finger." [HPO:curators] synonym: "Lytic defects of the phalanges of the ring finger" RELATED [] xref: UMLS:C4020832 xref: UMLS:C4025409 is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand [Term] id: HP:0004196 name: obsolete Short phalanges of the ring finger is_obsolete: true consider: HP:0009408 [Term] id: HP:0004197 name: Symphalangism of the 4th finger def: "Fusion of two or more bones of the 4th finger." [HPO:curators] synonym: "Fused ring finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Symphalangism of the ring finger" EXACT [] xref: UMLS:C4021679 is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology is_a: HP:0009700 ! Finger symphalangism is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand [Term] id: HP:0004198 name: obsolete Wide/broad phalanges of the ring finger is_obsolete: true consider: HP:0009172 [Term] id: HP:0004201 name: obsolete Expanded proximal phalanx of the ring finger is_obsolete: true replaced_by: HP:0009310 [Term] id: HP:0004202 name: obsolete Lytic defects of the proximal phalanx of the ring finger is_obsolete: true replaced_by: HP:0009312 [Term] id: HP:0004203 name: obsolete Short proximal phalanx of the ring finger is_obsolete: true replaced_by: HP:0009300 [Term] id: HP:0004207 name: Abnormal 5th finger morphology def: "An abnormality affecting one or both 5th fingers." [HPO:sdoelken] synonym: "Abnormality of the 5th finger" EXACT [] synonym: "Abnormality of the little finger" EXACT layperson [] synonym: "Abnormality of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021678 is_a: HP:0001167 ! Abnormality of finger [Term] id: HP:0004209 name: Clinodactyly of the 5th finger alt_id: HP:0001158 alt_id: HP:0001588 alt_id: HP:0004212 alt_id: HP:0006083 alt_id: HP:0006181 alt_id: HP:0009181 def: "Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger)." [HPO:curators, pmid:16252026] comment: Minor degrees of curvature of the small finger are so common as to be considered normal. synonym: "Bilateral fifth digit clinodactyly" EXACT [] synonym: "Bilateral fifth finger clinodactyly" EXACT [] synonym: "Clinodactyly of fifth digit" EXACT [] synonym: "Clinodactyly of the little finger" EXACT [] synonym: "Curvature of little finger" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Curvature of pinkie finger" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Curvature of pinky finger" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Fifth finger clinodactyly" EXACT [] synonym: "Permanent curving of the pinkie finger" EXACT layperson [orcid.org/0000-0002-6548-5200] xref: UMLS:C1850049 xref: UMLS:C4280538 is_a: HP:0009179 ! Deviation of the 5th finger is_a: HP:0040019 ! Finger clinodactyly [Term] id: HP:0004213 name: Abnormal 5th finger phalanx morphology def: "Abnormality of the phalanges of the 5th (little) finger." [HPO:sdoelken] synonym: "Abnormality of the little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the phalanges of the 5th finger" EXACT [] synonym: "Abnormality of the pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025408 is_a: HP:0004207 ! Abnormal 5th finger morphology is_a: HP:0005918 ! Abnormal finger phalanx morphology [Term] id: HP:0004214 name: Curved phalanges of the 5th finger def: "Curved phalanges of the 5th (little) finger." [HPO:curators] synonym: "Curved little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Curved pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Curved pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025407 is_a: HP:0004095 ! Curved fingers is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology is_a: HP:0009770 ! Curved phalanges of the hand [Term] id: HP:0004216 name: Osteolytic defects of the phalanges of the 5th finger def: "Dissolution or degeneration of bone tissue of the phalanges of the 5th finger." [HPO:curators] synonym: "Lytic defects of the phalanges of the little finger" EXACT [] xref: UMLS:C4021677 is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand [Term] id: HP:0004218 name: Symphalangism of the 5th finger def: "Fusion of two or more bones of the 5th finger." [HPO:curators] synonym: "Fused little finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fused pinkie finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fused pinky finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Symphalagism of the little finger" EXACT [] xref: UMLS:C4021676 is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology is_a: HP:0009700 ! Finger symphalangism is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand [Term] id: HP:0004219 name: Abnormality of the middle phalanx of the 5th finger synonym: "Abnormality of the middle bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the middle bone of pinkie finger" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Abnormality of the middle bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025406 is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology [Term] id: HP:0004220 name: Short middle phalanx of the 5th finger alt_id: HP:0001243 alt_id: HP:0003069 alt_id: HP:0004221 alt_id: HP:0005649 alt_id: HP:0005706 alt_id: HP:0005734 alt_id: HP:0005813 def: "Absence or underdevelopment (hypoplasia) of the middle phalanx of the fifth finger." [HPO:sdoelken, PMID:18494372] comment: Brachymesophalangia-V, a short and broad middle phalanx of the fifth digit, is the most common of all skeletal anomalies of the hand. When this feature appears alone, it is clinically known as brachydactyly type A3 (BDA3). synonym: "5th finger middle phalangeal hypoplasia" EXACT [] synonym: "Brachymesophalangism V" EXACT [] synonym: "Fifth finger mid-phalanx hypoplasia" EXACT [] synonym: "Hypoplastic fifth finger middle phalanx" EXACT [] synonym: "Hypoplastic middle phalanx of the 5th finger" EXACT [] synonym: "Hypoplastic/small middle phalanx of the 5th finger" EXACT [] synonym: "Hypoplastic/small middle phalanx of the little finger" EXACT [] synonym: "Short middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short middle phalanx of the little finger" EXACT [] synonym: "Type A3 brachydactyly" EXACT [] xref: UMLS:C1834060 is_a: HP:0005819 ! Short middle phalanx of finger is_a: HP:0009161 ! Aplasia/Hypoplasia of the middle phalanx of the 5th finger is_a: HP:0009237 ! Short 5th finger is_a: HP:0009370 ! Type A brachydactyly [Term] id: HP:0004222 name: Cone-shaped epiphysis of the distal phalanx of the 5th finger def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] synonym: "Cone-shaped end part of the outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cone-shaped end part of the outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cone-shaped end part of the outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cone-shaped epiphysis of the distal phalanx of the little finger" EXACT [] xref: UMLS:C4021675 is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009384 ! Cone-shaped epiphyses of the 5th finger is_a: HP:0010248 ! Cone-shaped epiphyses of the distal phalanges of the hand [Term] id: HP:0004223 name: Ivory epiphysis of the distal phalanx of the 5th finger alt_id: HP:0004229 def: "Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] synonym: "Increased bone density of end part of the outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased bone density of end part of the outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased bone density of end part of the outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Ivory epiphysis of the distal phalanx of the little finger" EXACT [] synonym: "Ivory epiphysis of the terminal phalanx of the little finger" EXACT [] xref: UMLS:C4021674 is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009388 ! Ivory epiphyses of the 5th finger is_a: HP:0010252 ! Ivory epiphyses of the distal phalanges of the hand [Term] id: HP:0004224 name: Abnormality of the epiphysis of the middle phalanx of the 5th finger def: "Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx." [HPO:curators] synonym: "Abnormality of the end part of middle little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the end part of middle pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the end part of middle pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025405 is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand [Term] id: HP:0004225 name: Abnormality of the distal phalanx of the 5th finger def: "Abnormality of the distal phalanx of the 5th (little) finger." [HPO:curators] synonym: "Abnormality of the distal phalanx of the little finger" EXACT [] synonym: "Abnormality of the outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the terminal phalanx of the little finger" EXACT [] xref: UMLS:C4021673 is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology [Term] id: HP:0004226 name: Curved distal phalanx of the 5th finger def: "Curved appearance of the distal phalanx of the 5th (little) finger." [HPO:curators] synonym: "Curved outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Curved outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Curved outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Curved terminal phalanx of the little finger" EXACT [] xref: UMLS:C4021672 is_a: HP:0004214 ! Curved phalanges of the 5th finger is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009838 ! Curved distal phalanges of the hand [Term] id: HP:0004227 name: Short distal phalanx of the 5th finger alt_id: HP:0006171 def: "Hypoplastic/small distal phalanx of the fifth finger." [HPO:sdoelken] synonym: "Brachytelophalangism V" EXACT [] synonym: "Fifth digit distal phalangeal hypoplasia" EXACT [] synonym: "Hypoplastic/small terminal phalanx of the little finger" EXACT [] synonym: "Short distal phalanx of the fifth finger" EXACT [] synonym: "Short outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1836674 is_a: HP:0009237 ! Short 5th finger is_a: HP:0009239 ! Aplasia/Hypoplasia of the distal phalanx of the 5th finger is_a: HP:0009882 ! Short distal phalanx of finger [Term] id: HP:0004230 name: Subluxation of the proximal interphalangeal joint of the little finger def: "A partial dislocation of the proximal interphalangeal joint of the little finger." [HPO:sdoelken] synonym: "Partially dislocated innermost hinge joint of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partially dislocated innermost hinge joint of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partially dislocated innermost hinge joint of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025404 is_a: HP:0004207 ! Abnormal 5th finger morphology is_a: HP:0032153 ! Joint subluxation [Term] id: HP:0004231 name: Carpal bone aplasia alt_id: HP:0005056 alt_id: HP:0006020 alt_id: HP:0006084 def: "Congenital absence of a carpal bone." [HPO:probinson] comment: Radiographically difficult to distinguish between absent ossification of a carpal bone. synonym: "Absent carpal bone" EXACT [] synonym: "Absent carpal bones" EXACT [] synonym: "Absent carpal ossification center" EXACT [] synonym: "Absent wrist bone" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Aplastic carpal bone" EXACT [] synonym: "Missing wrist bone" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1836219 xref: UMLS:C4280537 is_a: HP:0006502 ! Aplasia/Hypoplasia involving the carpal bones [Term] id: HP:0004232 name: Accessory carpal bones def: "The presence of more than the normal number of carpal bones." [HPO:curators] synonym: "Extra wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Supernumerary carpal bones" EXACT [] xref: SNOMEDCT_US:20136007 xref: SNOMEDCT_US:9181003 xref: UMLS:C0265609 is_a: HP:0001191 ! Abnormality of the carpal bones is_a: HP:0004275 ! Duplication of hand bones [Term] id: HP:0004233 name: Advanced ossification of carpal bones alt_id: HP:0006104 def: "Ossification of carpal bones at an abnormally early age." [HPO:probinson] synonym: "Accelerated carpal bone maturation" EXACT [] synonym: "Accelerated wrist bone maturation" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Advanced carpal bone age" EXACT [] synonym: "Advanced carpal ossification" EXACT [] synonym: "Precociously ossified carpal bones" EXACT [] xref: UMLS:C1849292 xref: UMLS:C4280536 is_a: HP:0006257 ! Abnormality of carpal bone ossification [Term] id: HP:0004234 name: Bone-in-a-bone appearance of carpal bones def: "The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones." [HPO:curators] synonym: "Bone-in-a-bone appearance of wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025403 is_a: HP:0009164 ! Abnormal calcification of the carpal bones is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0004235 name: Comma-shaped carpal bones synonym: "Comma-shaped wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025402 is_a: HP:0006014 ! Abnormally shaped carpal bones [Term] id: HP:0004236 name: Irregular carpal bones def: "Carpal bones with irregular or fragmented margins." [HPO:probinson] synonym: "Irregular wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025401 is_a: HP:0006014 ! Abnormally shaped carpal bones [Term] id: HP:0004237 name: Large carpal bones def: "Increased size of carpal bones." [HPO:probinson] subset: hposlim_core synonym: "Large carpals" EXACT [] synonym: "Large wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021671 is_a: HP:0006014 ! Abnormally shaped carpal bones [Term] id: HP:0004238 name: Lytic defects of carpal bones xref: UMLS:C4025400 is_a: HP:0001495 ! Carpal osteolysis [Term] id: HP:0004239 name: Proximally placed carpal bones xref: UMLS:C4025399 is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0004240 name: Sclerotic foci within carpal bones synonym: "Hardened spots within wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Stiffened spots within wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025398 xref: UMLS:C4280535 is_a: HP:0004054 ! Sclerosis of hand bone is_a: HP:0009164 ! Abnormal calcification of the carpal bones [Term] id: HP:0004241 name: Stippled calcification in carpal bones alt_id: HP:0006177 def: "Point-shaped (punctate) calcifications affecting the carpal bones." [HPO:curators] synonym: "Punctate calcifications of carpals" EXACT [] xref: UMLS:C1844846 is_a: HP:0004054 ! Sclerosis of hand bone is_a: HP:0009164 ! Abnormal calcification of the carpal bones [Term] id: HP:0004242 name: Broad carpal bones synonym: "Wide carpal bones" EXACT [] synonym: "Wide wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3554618 is_a: HP:0004237 ! Large carpal bones [Term] id: HP:0004243 name: Abnormality of the scaphoid xref: UMLS:C4025397 is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0004244 name: Accessory scaphoid xref: UMLS:C4025396 is_a: HP:0004232 ! Accessory carpal bones is_a: HP:0004243 ! Abnormality of the scaphoid [Term] id: HP:0004245 name: Comma-shaped scaphoid xref: UMLS:C4025395 is_a: HP:0004235 ! Comma-shaped carpal bones is_a: HP:0004243 ! Abnormality of the scaphoid [Term] id: HP:0004246 name: Delayed ossification of the scaphoid def: "Formation of bone tissue of scaphoid is less than expected for age." [HPO:sdoelken] synonym: "Delayed maturation of the scaphoid" EXACT [] xref: UMLS:C4021670 is_a: HP:0001216 ! Delayed ossification of carpal bones is_a: HP:0045003 ! Abnormal ossification of the scaphoid [Term] id: HP:0004247 name: Small scaphoid def: "Underdevelopment of the scaphoid." [HPO:probinson] xref: UMLS:C4025394 is_a: HP:0001498 ! Carpal bone hypoplasia is_a: HP:0004243 ! Abnormality of the scaphoid [Term] id: HP:0004248 name: Abnormality of the lunate bone xref: UMLS:C4025393 is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0004249 name: Accessory lunate xref: UMLS:C4025392 is_a: HP:0004232 ! Accessory carpal bones is_a: HP:0004248 ! Abnormality of the lunate bone [Term] id: HP:0004250 name: Proximally placed lunate xref: UMLS:C4025391 is_a: HP:0004239 ! Proximally placed carpal bones is_a: HP:0004248 ! Abnormality of the lunate bone [Term] id: HP:0004251 name: Lunate-triquetral fusion def: "Osseous fusion of the lunate and triquetrum." [PMID:23853014] comment: Synostosis of the carpal bones is a rare congenital condition. Lunate and triquetrum are the bones more commonly involved. synonym: "Lunotriquetral synostosis" EXACT [] xref: UMLS:C1867930 is_a: HP:0004248 ! Abnormality of the lunate bone [Term] id: HP:0004252 name: Abnormality of the trapezium def: "An anomaly of trapezium." [HPO:probinson] xref: UMLS:C4025390 is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0004253 name: Absent trapezium synonym: "Absent trapezium bone" EXACT [] xref: UMLS:C1847190 is_a: HP:0004252 ! Abnormality of the trapezium is_a: HP:0006257 ! Abnormality of carpal bone ossification [Term] id: HP:0004254 name: Delayed ossification of the trapezium def: "Formation of bone tissue of trapezium is less than expected for age." [HPO:probinson] synonym: "Delayed maturation of the trapezium" EXACT [] xref: UMLS:C4021669 is_a: HP:0001216 ! Delayed ossification of carpal bones is_a: HP:0045001 ! Abnormal ossification of the trapezium [Term] id: HP:0004255 name: Small trapezium def: "Underdevelopment of the trapezium." [HPO:probinson] xref: UMLS:C4025389 is_a: HP:0001498 ! Carpal bone hypoplasia is_a: HP:0004252 ! Abnormality of the trapezium [Term] id: HP:0004256 name: Abnormality of the trapezoid bone xref: UMLS:C4025388 is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0004257 name: Delayed ossification of the trapezoid bone def: "Formation of bone tissue of trapezoid is less than expected for age." [HPO:probinson] synonym: "Delayed maturation of the trapezoid bone" EXACT [] xref: UMLS:C4021668 is_a: HP:0001216 ! Delayed ossification of carpal bones is_a: HP:0045004 ! Abnormal ossification of the trapezoid bone [Term] id: HP:0004258 name: Small trapezoid bone def: "Underdevelopment of the trapezoid." [HPO:probinson] xref: UMLS:C4025387 is_a: HP:0001498 ! Carpal bone hypoplasia is_a: HP:0004256 ! Abnormality of the trapezoid bone [Term] id: HP:0004259 name: Abnormality of the hamate bone xref: UMLS:C4025386 is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0004260 name: Large hamate bone synonym: "Large unciform bone" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4025385 is_a: HP:0004237 ! Large carpal bones is_a: HP:0004259 ! Abnormality of the hamate bone [Term] id: HP:0004261 name: Wide hamate bone synonym: "Broad hamate bone" EXACT [] synonym: "Wide unciform bone" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4021667 is_a: HP:0004242 ! Broad carpal bones is_a: HP:0004260 ! Large hamate bone [Term] id: HP:0004262 name: Abnormality of the capitate bone xref: UMLS:C4025384 is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0004263 name: Large capitate bone xref: UMLS:C4025383 is_a: HP:0004237 ! Large carpal bones is_a: HP:0004262 ! Abnormality of the capitate bone [Term] id: HP:0004264 name: Narrow carpal joint spaces alt_id: HP:0004265 synonym: "Decreased carpal joint angles" EXACT [] xref: UMLS:C4021666 is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0004267 name: Narrow small joints of the hand synonym: "Narrow small joints of the hand" EXACT layperson [] xref: UMLS:C4025382 is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand [Term] id: HP:0004268 name: Osteoarthritis of the small joints of the hand xref: UMLS:C4025381 is_a: HP:0002758 ! Osteoarthritis is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand [Term] id: HP:0004269 name: Subluxation of the small joints of the hand def: "A partial dislocation of some or all of the small joints of the hand." [HPO:curators] synonym: "Partial dislocation of small joints of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025380 is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand is_a: HP:0032153 ! Joint subluxation [Term] id: HP:0004271 name: Cortical thickening of hand bones xref: UMLS:C4025379 is_a: HP:0005926 ! Abnormality of hand cortical bone is_a: HP:0100039 ! Thickened cortex of bones [Term] id: HP:0004272 name: Cortical thinning of hand bones xref: UMLS:C4025378 is_a: HP:0002753 ! Thin bony cortex is_a: HP:0005926 ! Abnormality of hand cortical bone [Term] id: HP:0004273 name: Cupped metaphyses of hand bones synonym: "Cupped metaphysis of hand bones" EXACT [ORCID:0000-0001-6908-9849] synonym: "Cupped wide portion of hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025377 is_a: HP:0005923 ! Abnormalities of the metaphyses of the hand [Term] id: HP:0004274 name: Deficient ossification of hand bones synonym: "Deficient maturation of hand bones" RELATED layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025376 xref: UMLS:C4280534 is_a: HP:0010660 ! Abnormal hand bone ossification [Term] id: HP:0004275 name: Duplication of hand bones synonym: "Duplication of hand bones" EXACT layperson [] xref: UMLS:C3276746 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0009142 ! Duplication of bones involving the upper extremities [Term] id: HP:0004276 name: Exostoses of hand bones def: "Abnormal formation of new bone on the surface of a bone of the hand." [HPO:curators] xref: UMLS:C4025375 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0100777 ! Exostoses [Term] id: HP:0004277 name: Fractured hand bones synonym: "Broken hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fractured hand bones" EXACT layperson [] xref: SNOMEDCT_US:20511007 xref: UMLS:C0435632 is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0004278 name: Synostosis involving bones of the hand def: "An abnormal union between bones or parts of bones of the hand." [HPO:sdoelken] synonym: "Fused hand bones" RELATED layperson [] xref: UMLS:C4020831 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0100238 ! Synostosis involving bones of the upper limbs [Term] id: HP:0004279 name: Short palm alt_id: HP:0001165 def: "Short palm." [HPO:probinson, pmid:19125433] comment: This term refers to a developmental finding resulting in short palms. This term is reserved for individuals with shortening of all four metacarpals 2-5. Individuals with fewer than four shortened metacarpals (in a eudactylous hand, the metacarpals of F2-5) should be coded as Metacarpal, short. See the entry for Hand, small for a discussion of this finding. "Short hand" should not be used as it is a bundle of two readily separable terms, Fingers, short (which, as noted above, can itself be a bundled term) and Palm, short. synonym: "Hypoplastic hands" RELATED [] synonym: "Short hands" RELATED layperson [] synonym: "Short palm" EXACT layperson [] synonym: "Short palms" RELATED layperson [HPO:skoehler] xref: UMLS:C1843108 is_a: HP:0005927 ! Aplasia/hypoplasia involving bones of the hand is_a: HP:0100871 ! Abnormality of the palm [Term] id: HP:0004280 name: Irregular ossification of hand bones synonym: "Irregular maturation of hand bones" RELATED layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025374 is_a: HP:0010660 ! Abnormal hand bone ossification [Term] id: HP:0004281 name: Irregular sclerosis of hand bones synonym: "Increased bone density in hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025373 is_a: HP:0004054 ! Sclerosis of hand bone [Term] id: HP:0004283 name: Narrow palm def: "For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length." [pmid:19125433] comment: Palm width is measured across the palm at the level of the MCPJ (radial aspect of the F2 MCPJ to the ulnar aspect of the F5 MCPJ). Norms are specified in [Hall et al., 2007]. Caution is advised for the subjective assessment as the breadth may be in the normal range with disproportionately increased length, which appears narrow. This finding may be associated with elongated/slender limbs in general, but that finding does not bear on the coding of this feature. Proximal narrowing may indicate small thenar or hypothenar eminences. This term replaces "narrow hands" as that term may leave the impression that it includes the thumb, which it does not. synonym: "Narrow hand" EXACT [] synonym: "Narrow hands" RELATED [HPO:skoehler] synonym: "Narrow palm" EXACT layperson [] xref: UMLS:C1857632 is_a: HP:0100871 ! Abnormality of the palm [Term] id: HP:0004284 name: Notched hand bones synonym: "Notched hand bones" EXACT layperson [] xref: UMLS:C4025372 is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0004285 name: Overmodelled hand bones xref: UMLS:C4025371 is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0004286 name: Patchy sclerosis of hand bones synonym: "Uneven increase in bone density in hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025370 is_a: HP:0004281 ! Irregular sclerosis of hand bones [Term] id: HP:0004287 name: Pointed hand bones synonym: "Pointed hand bones" EXACT layperson [] xref: UMLS:C4025369 is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0004288 name: Pseudoepiphyses of hand bones xref: UMLS:C4025368 is_a: HP:0005924 ! Abnormality of the epiphyses of the hand is_a: HP:0010584 ! Pseudoepiphyses [Term] id: HP:0004289 name: Sclerotic foci in hand bones xref: UMLS:C4025367 is_a: HP:0004281 ! Irregular sclerosis of hand bones [Term] id: HP:0004290 name: Sclerosis of hand bones with transverse striations xref: UMLS:C4025366 is_a: HP:0004281 ! Irregular sclerosis of hand bones [Term] id: HP:0004291 name: Stippled calcification of hand bones xref: UMLS:C4025365 is_a: HP:0004280 ! Irregular ossification of hand bones [Term] id: HP:0004292 name: Undermodelled hand bones xref: UMLS:C4025364 is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0004293 name: Synostosis of second metacarpal-trapezoid def: "Fusion of the second metacarpal-trapezoid." [HPO:probinson] synonym: "Fusion of second metacarpal-trapezoid" EXACT [] xref: UMLS:C4021665 is_a: HP:0009705 ! Synostosis involving the 2nd metacarpal is_a: HP:0100328 ! Carpometacarpal synostosis [Term] id: HP:0004294 name: Subluxation of metacarpal phalangeal joints def: "A partial dislocation affecting some or all of the metacarpophalangeal joints." [HPO:probinson] synonym: "Partial knuckle dislocation" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Subluxation of metacarpophalangeal joints" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4025363 is_a: HP:0011911 ! Abnormality of metacarpophalangeal joint is_a: HP:0032153 ! Joint subluxation [Term] id: HP:0004295 name: Abnormality of the gastric mucosa def: "An abnormality of the gastric mucous membrane." [HPO:probinson] synonym: "Abnormality of the mucous membrane layer of stomach" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025362 is_a: HP:0002577 ! Abnormality of the stomach created_by: peter creation_date: 2008-02-20T11:12:00Z [Term] id: HP:0004296 name: Abnormality of gastrointestinal vasculature synonym: "Abnormality of GI blood vessels" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of GI vasculature" EXACT HP:0045077 [] xref: UMLS:C4025361 is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0012718 ! Morphological abnormality of the gastrointestinal tract created_by: peter creation_date: 2008-02-20T11:24:00Z [Term] id: HP:0004297 name: Abnormality of the biliary system def: "An abnormality of the biliary system." [HPO:probinson] xref: UMLS:C0940767 is_a: HP:0001392 ! Abnormality of the liver created_by: peter creation_date: 2008-02-20T11:34:00Z [Term] id: HP:0004298 name: Abnormality of the abdominal wall alt_id: HP:0001462 def: "The presence of any abnormality affecting the abdominal wall." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of external features of the abdomen" EXACT [] synonym: "Abnormality of the abdominal wall" EXACT layperson [] xref: UMLS:C4021664 is_a: HP:0025031 ! Abnormality of the digestive system created_by: peter creation_date: 2008-02-20T11:40:00Z [Term] id: HP:0004299 name: Hernia of the abdominal wall def: "The presence of a hernia in the abdominal wall." [HPO:probinson] comment: A hernia refers to a sac formed by the lining of the abdominal cavity (peritoneum). The sac can protrude through a hole or weak area in the abdominal fascia. subset: hposlim_core synonym: "Herniated abdominal wall" EXACT [ORCID:0000-0001-5208-3432] xref: Fyler:4414 xref: SNOMEDCT_US:128545000 xref: UMLS:C1442978 is_a: HP:0010866 ! Abdominal wall defect is_a: HP:0100790 ! Hernia created_by: peter creation_date: 2008-02-20T11:42:00Z [Term] id: HP:0004302 name: Functional motor deficit synonym: "Functional motor problems" EXACT [] xref: UMLS:C4025360 is_a: HP:0011804 ! Abnormal muscle physiology created_by: peter creation_date: 2008-02-20T11:52:00Z [Term] id: HP:0004303 name: Abnormal muscle fiber morphology alt_id: HP:0003706 alt_id: HP:0011806 def: "Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers." [HPO:probinson, PMID:22938878] comment: Normal human muscle is composed of many individual muscle fibers bundled together by layers of connective tissue that are arranged in a nesting-doll like fashion. The inner most structure, the single muscle fiber, is covered by a thin layer of primarily reticular fibers called the endomysium. The endomysium is quite inconspicuous and muscle fibers appear to be in direct contact with each other. The finest capillaries, nerve twigs and lymphatic capillaries are found within the endomysium. Groups of muscle fibers are bound together by the thicker perimysium, forming structures called fascicles. Capillaries, nerve fibers and lymphatic vessels also track in the perimyseum. Bundles of fascicles are encased within the dense irregular connective tissue of the epimysium. These connective tissue layers provide mechanical protection for the muscle fibers and increase the tensile strength of the muscle. The layers are continuous with the tendon, which provides attachment to bone. Individual muscle fibers are syncytia, formed by embryonic fusion of many myoblasts or later, myosatellite cells. Each muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5 percent of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei. Each nucleus provides a segment of the cell with needed translated protein products. synonym: "Abnormal skeletal muscle fiber morphology" EXACT [] synonym: "Abnormality of muscle fibers" EXACT [] xref: UMLS:C4021663 is_a: HP:0011805 ! Abnormal muscle morphology created_by: peter creation_date: 2008-02-20T12:04:00Z [Term] id: HP:0004305 name: Involuntary movements alt_id: HP:0007120 def: "Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face." [HPO:probinson] synonym: "Involuntary movements" EXACT layperson [] synonym: "Involuntary muscle contractions" EXACT layperson [] xref: SNOMEDCT_US:102542000 xref: UMLS:C0235086 is_a: HP:0100022 ! Abnormality of movement created_by: peter creation_date: 2008-02-20T12:18:00Z [Term] id: HP:0004306 name: Abnormal endocardium morphology alt_id: HP:0005260 def: "An abnormality of the endocardium." [HPO:probinson] synonym: "Abnormality of the endocardium" EXACT [] synonym: "Abnormality of the endomycoardium" EXACT [] xref: UMLS:C4021662 is_a: HP:0001627 ! Abnormal heart morphology created_by: peter creation_date: 2008-02-20T01:23:00Z [Term] id: HP:0004307 name: Abnormal anatomic location of the heart def: "Thickening of the left ventricle wall with congenital onset." [PMID:154915] xref: UMLS:C4025359 is_a: HP:0001627 ! Abnormal heart morphology created_by: peter creation_date: 2008-02-20T01:23:00Z [Term] id: HP:0004308 name: Ventricular arrhythmia synonym: "Ventricular arrhythmias" EXACT [HPO:skoehler] xref: SNOMEDCT_US:44103008 xref: UMLS:C0085612 is_a: HP:0011675 ! Arrhythmia created_by: peter creation_date: 2008-02-20T01:28:00Z [Term] id: HP:0004309 name: Ventricular preexcitation alt_id: HP:0006676 def: "An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway." [HPO:probinson] comment: Pre-excitation syndromes are generally caused by accelerated conduction along an accessory pathway, but in some cases there is accelerated conduction through the normal AV node. synonym: "Pre-excitation syndrome" EXACT [] synonym: "Preexcitation" EXACT [] synonym: "Ventricular pre-excitation" EXACT [] xref: SNOMEDCT_US:195060002 xref: UMLS:C0559106 is_a: HP:0004308 ! Ventricular arrhythmia created_by: peter creation_date: 2008-02-20T01:29:00Z [Term] id: HP:0004311 name: Abnormal macrophage morphology alt_id: HP:0004310 def: "An abnormality of macrophages." [HPO:probinson] synonym: "Abnormality of histiocytes" EXACT [] synonym: "Abnormality of macrophages" EXACT [] xref: UMLS:C4021661 is_a: HP:0010974 ! Abnormal myeloid leukocyte morphology created_by: peter creation_date: 2008-02-20T03:14:00Z [Term] id: HP:0004312 name: Abnormal reticulocyte morphology def: "A reticulocyte abnormality." [HPO:probinson] comment: Reticulocytes are immature erythrocytes that show a basophilic reticulum under vital staining. synonym: "Abnormality of reticulocytes" EXACT [] xref: UMLS:C4025358 is_a: HP:0001877 ! Abnormal erythrocyte morphology created_by: peter creation_date: 2008-02-20T03:19:00Z [Term] id: HP:0004313 name: Decreased antibody level in blood alt_id: HP:0010703 def: "An abnormally decreased level of immunoglobulin in blood." [HPO:probinson] comment: In humans, immunoglobulins comprise the five antibody isotypes IgA, IgD, IgE, IgG and IgM. synonym: "Decreased immunoglobulin level" EXACT [] synonym: "Decreased serum immunoglobulin" EXACT [] synonym: "Hypogammaglobulinemia" EXACT [] synonym: "Immunoglobulin deficiency" EXACT [] synonym: "Reduced immunoglobulin levels" EXACT [] xref: MSH:D000361 xref: SNOMEDCT_US:119250001 xref: UMLS:C0086438 xref: UMLS:C4048270 is_a: HP:0010701 ! Abnormal immunoglobulin level created_by: peter creation_date: 2008-02-20T03:34:00Z [Term] id: HP:0004315 name: Decreased circulating IgG level alt_id: HP:0003289 alt_id: HP:0003294 alt_id: HP:0005394 alt_id: HP:0008325 alt_id: HP:0008340 def: "An abnormally decreased level of immunoglobulin G (IgG) in blood." [HPO:probinson] synonym: "Decreased gamma-globin expression" EXACT [] synonym: "Decreased IgG level" EXACT [] synonym: "Decreased immunoglobulin G" EXACT [] synonym: "Decreased serum IgG" EXACT [] synonym: "IgG deficiency" EXACT [] synonym: "Reduced IgG levels" EXACT [] xref: MSH:D017099 xref: SNOMEDCT_US:123785006 xref: SNOMEDCT_US:190981001 xref: UMLS:C0162539 is_a: HP:0004313 ! Decreased antibody level in blood is_a: HP:0410242 ! Abnormal IgG level created_by: peter creation_date: 2008-02-20T03:43:00Z [Term] id: HP:0004319 name: Decreased circulating aldosterone level alt_id: HP:0000355 alt_id: HP:0002924 alt_id: HP:0008184 alt_id: HP:0008190 def: "Abnormally reduced levels of aldosterone." [DDD:spark, HPO:probinson] comment: Aldosterone is a hormone that is produce by the adrenal cortex and that acts on the distal tubules and collecting ducts to favor retention of sodium excretion of potassium, and increased water retention, thereby tending to increase blood pressure. Aldosterone is sometimes called a mineralocorticoid because of its influence on sodium homeostasis. synonym: "Decreased aldosterone" EXACT [] synonym: "Decreased aldosterone production" EXACT [] synonym: "Decreased serum aldosterone" EXACT [] synonym: "Hypoaldosteronism" EXACT [] synonym: "Low blood aldosterone level" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Mineralocorticoid insufficiency" EXACT [] xref: MSH:D006994 xref: SNOMEDCT_US:60086000 xref: UMLS:C0020595 xref: UMLS:C0857899 xref: UMLS:C1846226 is_a: HP:0008207 ! Primary adrenal insufficiency created_by: peter creation_date: 2008-02-25T10:45:00Z [Term] id: HP:0004320 name: Vaginal fistula def: "The presence of a fistula of the vagina." [HPO:probinson] xref: MSH:D014624 xref: SNOMEDCT_US:45135002 xref: UMLS:C0042253 is_a: HP:0000142 ! Abnormal vagina morphology is_a: HP:0100589 ! Urogenital fistula created_by: peter creation_date: 2008-02-25T12:17:00Z [Term] id: HP:0004321 name: Bladder fistula def: "The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin." [HPO:curators] xref: MSH:D001747 xref: SNOMEDCT_US:68666001 xref: UMLS:C0005690 is_a: HP:0025487 ! Abnormality of bladder morphology is_a: HP:0100589 ! Urogenital fistula created_by: peter creation_date: 2008-02-25T12:32:00Z [Term] id: HP:0004322 name: Short stature alt_id: HP:0001509 alt_id: HP:0003501 alt_id: HP:0003507 alt_id: HP:0003512 alt_id: HP:0003518 alt_id: HP:0003519 alt_id: HP:0008871 alt_id: HP:0008882 alt_id: HP:0008888 alt_id: HP:0008913 def: "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] synonym: "Decreased body height" EXACT layperson [] synonym: "Height less than 3rd percentile" EXACT [] synonym: "Short stature" EXACT layperson [] synonym: "Small stature" EXACT layperson [] synonym: "Stature below 3rd percentile" EXACT [] xref: SNOMEDCT_US:237836003 xref: UMLS:C0349588 is_a: HP:0000002 ! Abnormality of body height is_a: HP:0001510 ! Growth delay created_by: peter creation_date: 2008-02-27T03:19:00Z [Term] id: HP:0004323 name: Abnormality of body weight alt_id: HP:0010718 def: "An abnormal increase or decrease of weight or an abnormal distribution of mass in the body." [HPO:probinson] synonym: "Abnormality of body weight" EXACT layperson [] synonym: "Abnormality of habitus" RELATED [] xref: UMLS:C0878621 xref: UMLS:C4025357 is_a: HP:0001507 ! Growth abnormality created_by: peter creation_date: 2008-02-27T03:21:00Z [Term] id: HP:0004324 name: Increased body weight alt_id: HP:0045083 def: "Abnormally increased body weight." [] synonym: "Increased body weight" EXACT layperson [] synonym: "Weight gain" RELATED layperson [] xref: MSH:D015430 xref: SNOMEDCT_US:161831008 xref: SNOMEDCT_US:262286000 xref: SNOMEDCT_US:8943002 xref: UMLS:C0043094 is_a: HP:0004323 ! Abnormality of body weight created_by: peter creation_date: 2008-02-27T03:21:00Z [Term] id: HP:0004325 name: Decreased body weight alt_id: HP:0001823 alt_id: HP:0001826 synonym: "Decreased body weight" EXACT layperson [] synonym: "Decreased weight" EXACT layperson [] synonym: "Low body weight" EXACT layperson [] synonym: "Low weight" EXACT layperson [] synonym: "Weight less than 3rd percentile" EXACT layperson [] xref: MSH:D013851 xref: MSH:D015431 xref: SNOMEDCT_US:161832001 xref: SNOMEDCT_US:248342006 xref: SNOMEDCT_US:262285001 xref: SNOMEDCT_US:89362005 xref: UMLS:C0041667 xref: UMLS:C1262477 xref: UMLS:C1844806 is_a: HP:0004323 ! Abnormality of body weight created_by: peter creation_date: 2008-02-27T03:22:00Z [Term] id: HP:0004326 name: Cachexia def: "Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease." [HPO:probinson] synonym: "Wasting syndrome" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D002100 xref: SNOMEDCT_US:238108007 xref: SNOMEDCT_US:285384003 xref: UMLS:C0006625 is_a: HP:0001824 ! Weight loss created_by: peter creation_date: 2008-02-27T03:23:00Z [Term] id: HP:0004327 name: Abnormal vitreous humor morphology def: "Any structural anomaly of the vitreous body." [HPO:probinson] comment: The vitreous humor is the clear gel that fills the space between the lens and the retina. subset: hposlim_core xref: UMLS:C4025356 is_a: HP:0004329 ! Abnormal posterior eye segment morphology created_by: peter creation_date: 2008-02-27T04:20:00Z [Term] id: HP:0004328 name: Abnormal anterior eye segment morphology def: "An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens)." [HPO:probinson] comment: The anterior segment comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens. synonym: "Abnormal anterior segment morphology" EXACT [] synonym: "Abnormality of the anterior segment of the eye" EXACT [] synonym: "Abnormality of the anterior segment of the eyeball" EXACT [] synonym: "Abnormality of the anterior segment of the globe" EXACT [] xref: UMLS:C4025355 is_a: HP:0012372 ! Abnormal eye morphology created_by: peter creation_date: 2008-02-27T04:23:00Z [Term] id: HP:0004329 name: Abnormal posterior eye segment morphology comment: The posterior segment comprises the anterior hyaloid membrane and all of the optical structures behind it: the vitreous humor, retina, choroid, and optic nerve. synonym: "Abnormal morphology of the posterior segment of the globe" EXACT [] synonym: "Abnormality of the posterior segment of the eye" EXACT [] synonym: "Abnormality of the posterior segment of the eyeball" EXACT [] synonym: "Abnormality of the posterior segment of the globe" EXACT [] xref: UMLS:C4025354 is_a: HP:0012372 ! Abnormal eye morphology created_by: peter creation_date: 2008-02-27T04:25:00Z [Term] id: HP:0004330 name: Increased skull ossification def: "An increase in the magnitude or amount of ossification of the skull." [HPO:probinson] subset: hposlim_core synonym: "Hyperossification of skull" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hyperostosis of skull" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased calcification of skull" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Increased Mineralization of skull" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Sclerosis of bones of skull" EXACT [ORCID:0000-0001-5889-4463] synonym: "Sclerosis of skull" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:17401000119104 xref: UMLS:C0020496 xref: UMLS:C4072850 xref: UMLS:C4072851 is_a: HP:0002703 ! Abnormality of skull ossification is_a: HP:0011001 ! Increased bone mineral density created_by: peter creation_date: 2008-02-28T11:54:00Z [Term] id: HP:0004331 name: Decreased skull ossification alt_id: HP:0003780 def: "A reduction in the magnitude or amount of ossification of the skull." [HPO:probinson] subset: hposlim_core synonym: "Decreased bone formation of skull" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Decreased calcification of skull" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased mineralization of skull" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Deficient skull ossification" EXACT [] synonym: "Hypoossification of skull" EXACT [ORCID:0000-0001-5889-4463] synonym: "Ossification defect of skull" EXACT [ORCID:0000-0001-5889-4463] synonym: "Poorly mineralized skull" EXACT [] synonym: "Poorly ossified skull" EXACT [ORCID:0000-0001-5889-4463] synonym: "Poorly ossified skull bones" EXACT [] xref: SNOMEDCT_US:253980008 xref: UMLS:C0432073 xref: UMLS:C4280533 is_a: HP:0002703 ! Abnormality of skull ossification is_a: HP:0011849 ! Abnormal bone ossification created_by: peter creation_date: 2008-02-28T11:54:00Z [Term] id: HP:0004332 name: Abnormal lymphocyte morphology alt_id: HP:0001887 alt_id: HP:0012140 def: "An abnormality of lymphocytes." [HPO:probinson] comment: A lymphocyte refers to a cell of the B cell, T cell, or natural killer cell lineage. synonym: "Abnormal lymphocytes" EXACT [] synonym: "Abnormality of cells of the lymphoid lineage" EXACT [] xref: SNOMEDCT_US:250284007 xref: UMLS:C0427546 is_a: HP:0001881 ! Abnormal leukocyte morphology created_by: peter creation_date: 2008-02-28T06:46:00Z [Term] id: HP:0004333 name: Bone-marrow foam cells alt_id: HP:0001979 def: "The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance." [HPO:probinson] synonym: "Bone marrow foam cells" EXACT [] synonym: "Large vacuolated foam cells ('NP cells') on bone marrow biopsy" EXACT [] synonym: "Large vacuolated foam cells on bone marrow biopsy" EXACT [] xref: UMLS:C1856560 is_a: HP:0004311 ! Abnormal macrophage morphology created_by: peter creation_date: 2008-02-28T06:48:00Z [Term] id: HP:0004334 name: Dermal atrophy alt_id: HP:0000985 alt_id: HP:0001077 def: "Partial or complete wasting (atrophy) of the skin." [HPO:probinson] subset: hposlim_core synonym: "Atrophic skin" EXACT [] synonym: "Skin atrophy" EXACT [] synonym: "Skin degeneration" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MEDDRA:10040799 "Skin atrophy" xref: SNOMEDCT_US:399979006 xref: SNOMEDCT_US:400190005 xref: UMLS:C0151514 is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin created_by: peter creation_date: 2008-03-04T06:24:00Z [Term] id: HP:0004336 name: Myelin outfoldings alt_id: HP:0003433 alt_id: HP:0006898 alt_id: HP:0007290 def: "The presence of excessive redundant myelin in the peripheral nerve sheath." [HPO:probinson, pmid:10932274] comment: This finding can be demonstrated by nerve biopsy (e.g., sural nerve biopsy). synonym: "Excessive focal folding of myelin sheaths" EXACT [] synonym: "Irregular myelin foldings" EXACT [] xref: UMLS:C1843168 is_a: HP:0030173 ! Peripheral hypermyelination created_by: peter creation_date: 2008-03-04T06:41:00Z [Term] id: HP:0004337 name: Abnormality of amino acid metabolism def: "Abnormality of an amino acid metabolic process." [HPO:probinson] synonym: "Amino acid levels abnormal" RELATED [] xref: UMLS:C1328440 is_a: HP:0032245 ! Abnormal metabolism created_by: peter creation_date: 2008-03-08T07:53:00Z [Term] id: HP:0004338 name: Abnormal circulating aromatic amino acid concentration def: "Any deviation from the normal concentration of a aromatic amino acid in the blood circulation." [HPO:probinson] synonym: "Abnormality of aromatic amino acid family metabolism" EXACT [] xref: UMLS:C4025352 is_a: HP:0003112 ! Abnormality of serum amino acid level created_by: peter creation_date: 2008-03-08T07:55:00Z [Term] id: HP:0004339 name: Abnormal circulating sulfur amino acid concentration def: "Any deviation from the normal concentration of a sulfur amino acid in the blood circulation." [HPO:gcarletti] comment: Cysteine and methionine contain a sulfur atom. synonym: "Abnormality of sulfur-containing amino acids" EXACT [] xref: UMLS:C4021660 is_a: HP:0003112 ! Abnormality of serum amino acid level created_by: peter creation_date: 2008-03-08T08:01:00Z [Term] id: HP:0004340 name: Abnormality of vitamin B metabolism synonym: "Abnormality of B-vitamin metabolism" EXACT [] xref: UMLS:C4021659 is_a: HP:0100508 ! Abnormality of vitamin metabolism created_by: peter creation_date: 2008-03-08T08:08:00Z [Term] id: HP:0004341 name: Abnormality of vitamin B12 metabolism synonym: "Abnormality of the vitamin B12 metabolism" EXACT [] xref: UMLS:C4021658 is_a: HP:0004340 ! Abnormality of vitamin B metabolism created_by: peter creation_date: 2008-03-08T08:09:00Z [Term] id: HP:0004342 name: Abnormality of galactoside metabolism def: "Abnormality of galactoside metabolism. A galactoside is a glycoside (a suger moiety bound to some other moiety) containing galactose." [HPO:gcarletti] xref: UMLS:C4025351 is_a: HP:0003649 ! Abnormality of glycoside metabolism created_by: peter creation_date: 2008-03-08T08:33:00Z [Term] id: HP:0004343 name: Abnormality of glycosphingolipid metabolism def: "An abnormality of glycosphingolipid metabolism." [HPO:probinson] comment: Glycosphingolipids are a subtype of glycolipids containing the amino alcohol sphingosine. A glycosphingolipid is a carbohydrate-containing derivative of a sphingoid or ceramide. It is understood that the carbohydrate residue is attached by a glycosidic linkage to O-1 of the sphingoid. xref: UMLS:C4025350 is_a: HP:0010969 ! Abnormality of glycolipid metabolism created_by: peter creation_date: 2008-03-08T08:35:00Z [Term] id: HP:0004344 name: Abnormality of cerebrosidase metabolism xref: UMLS:C4025349 is_a: HP:0004343 ! Abnormality of glycosphingolipid metabolism created_by: peter creation_date: 2008-03-08T08:36:00Z [Term] id: HP:0004345 name: Ganglioside accumulation def: "Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease)." [HPO:probinson, PMID:21937853] comment: A ganglioside is composed of a glycosphingolipid with one or more sialic acids linked on the sugar chain. xref: UMLS:C4025348 is_a: HP:0004343 ! Abnormality of glycosphingolipid metabolism created_by: peter creation_date: 2008-03-11T07:50:00Z [Term] id: HP:0004347 name: Weakness of muscles of respiration def: "Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles." [HPO:probinson] xref: UMLS:C4025347 is_a: HP:0001324 ! Muscle weakness is_a: HP:0002795 ! Functional respiratory abnormality created_by: peter creation_date: 2008-03-11T08:03:00Z [Term] id: HP:0004348 name: Abnormality of bone mineral density def: "This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ." [HPO:probinson] synonym: "Abnormality of bone mineralisation and ossification" EXACT [] xref: UMLS:C4021657 is_a: HP:0011849 ! Abnormal bone ossification created_by: peter creation_date: 2008-03-11T08:10:00Z [Term] id: HP:0004349 name: Reduced bone mineral density def: "A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones." [HPO:sdoelken] synonym: "Decreased bone mineral density" EXACT [HPO:skoehler] synonym: "Decreased bone mineral density Z score" EXACT [] synonym: "Low solidness and mass of the bones" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: UMLS:C2674432 is_a: HP:0004348 ! Abnormality of bone mineral density created_by: peter creation_date: 2008-03-11T08:10:00Z [Term] id: HP:0004352 name: Abnormal circulating purine concentration def: "Any deviation from the normal concentration of a purine in the blood circulation." [] comment: Purines are nitrogenous bases including the two nucleotide bases deoxyadenosine and deoxyguanosine. synonym: "Abnormal circulating purine level" EXACT [] xref: UMLS:C4025346 is_a: HP:0010932 ! Abnormal circulating nucleobase concentration created_by: peter creation_date: 2008-03-17T01:04:00Z [Term] id: HP:0004353 name: Abnormal circulating pyrimidine concentration def: "Any deviation from the normal concentration of a pyrimidine in the blood circulation." [HPO:probinson] xref: UMLS:C4025345 is_a: HP:0010932 ! Abnormal circulating nucleobase concentration created_by: peter creation_date: 2008-03-17T01:05:00Z [Term] id: HP:0004354 name: Abnormal circulating carboxylic acid concentration def: "Any deviation from the normal concentration of a carboxylic acid in the blood circulation." [HPO:gcarletti] comment: Carboxylic acid refers to an organic compound that contains a carboxyl group (-COOH). xref: UMLS:C4025344 is_a: HP:0032180 ! Abnormal circulating metabolite concentration created_by: peter creation_date: 2008-03-17T01:11:00Z [Term] id: HP:0004355 name: obsolete Abnormality of proteoglycan metabolism is_obsolete: true replaced_by: HP:0001939 creation_date: 2008-03-17T01:12:00Z [Term] id: HP:0004356 name: Abnormality of lysosomal metabolism comment: A major lysosomal function is the breakdown and recycling of macromolecules and organelles into basic precursors. xref: UMLS:C4025342 is_a: HP:0011017 ! Abnormal cellular physiology created_by: peter creation_date: 2008-03-17T02:40:00Z [Term] id: HP:0004357 name: Abnormal circulating leucine concentration def: "Any deviation from the normal circulation of leucine in the blood circulation." [HPO:probinson] xref: UMLS:C4025341 is_a: HP:0010892 ! Abnormal circulating branched chain amino acid concentration created_by: peter creation_date: 2008-03-17T03:02:00Z [Term] id: HP:0004358 name: Abnormality of superoxide metabolism comment: NADPH oxidase catalyzes the production of superoxide, which in turn can react to form hydrogen peroxide, HOCl, and hydroxyl radical. Together, these oxygen-derived species participate in bacterial killing. xref: UMLS:C4025340 is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity created_by: peter creation_date: 2008-03-17T03:22:00Z [Term] id: HP:0004359 name: Abnormal circulating fatty-acid concentration def: "A deviation from the normal concentration of a fatty acid in the blood circulation." [HPO:probinson] comment: A fatty acid is an aliphatic monocarboxylic acid derived from or contained in esterified form. Natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated. R-COOH. Fatty acids are usually derived from triglycerides or phospholipids. synonym: "Abnormality of fatty acid metabolism" EXACT [] synonym: "Fatty acids abnormal" RELATED [] xref: UMLS:C4020830 xref: UMLS:C4021656 is_a: HP:0003119 ! Abnormal circulating lipid concentration created_by: peter creation_date: 2008-03-17T03:28:00Z [Term] id: HP:0004360 name: Abnormality of acid-base homeostasis def: "An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH." [HPO:probinson] synonym: "Acid base imbalance" RELATED [] xref: MSH:D000137 xref: UMLS:C0001118 is_a: HP:0012337 ! Abnormal homeostasis created_by: peter creation_date: 2008-03-17T03:35:00Z [Term] id: HP:0004361 name: Abnormality of circulating leptin level def: "An abnormal concentration of leptin in the blood." [HPO:probinson] xref: UMLS:C4025339 is_a: HP:0003117 ! Abnormal circulating hormone level created_by: peter creation_date: 2008-03-17T03:37:00Z [Term] id: HP:0004362 name: Abnormality of enteric ganglion morphology alt_id: HP:0002596 alt_id: HP:0003283 def: "An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow." [HPO:probinson] synonym: "Abnormality of the enteric ganglia" RELATED [] xref: UMLS:C4025338 is_a: HP:0025028 ! Abnormality of enteric nervous system morphology created_by: peter creation_date: 2008-03-17T03:40:00Z [Term] id: HP:0004363 name: Abnormal circulating calcium concentration alt_id: HP:0040077 def: "Any deviation from the normal concentration of calcium in the blood circulation." [HPO:probinson] synonym: "Abnormal blood calcium concentration" EXACT [https://orcid.org/0000-0001-7941-2961] synonym: "Abnormal blood calcium levels" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormal circulating Ca concentration" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] synonym: "Abnormal circulating Ca2+ concentration" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] is_a: HP:0010927 ! Abnormal blood inorganic cation concentration created_by: peter creation_date: 2008-03-17T04:15:00Z [Term] id: HP:0004364 name: Abnormal circulating nitrogen compound concentration def: "Any deviation from the normal concentration of a nitrogen compound in the blood circulation." [HPO:gcarletti] comment: Ammonia (NH3), one of the most clinically important nitrogen compounds in human metabolism, is a substance containing nitrogen resulting from the catabolism of protein. It is converted to the less toxic substance urea prior to excretion in urine. xref: UMLS:C4025336 is_a: HP:0032180 ! Abnormal circulating metabolite concentration created_by: peter creation_date: 2008-03-17T04:51:00Z [Term] id: HP:0004365 name: Abnormal circulating tryptophan concentration def: "Any deviation from the normal concentration of tryptophan in the blood circulation." [HPO:probinson] synonym: "Abnormality of tryptophan metabolism" EXACT [] xref: UMLS:C4025335 is_a: HP:0004338 ! Abnormal circulating aromatic amino acid concentration created_by: peter creation_date: 2008-03-17T04:55:00Z [Term] id: HP:0004366 name: Abnormality of glycolysis def: "An abnormality of glycolysis." [HPO:probinson] xref: UMLS:C4025334 is_a: HP:0011013 ! Abnormal circulating carbohydrate concentration created_by: peter creation_date: 2008-03-17T05:00:00Z [Term] id: HP:0004367 name: obsolete Abnormality of glycoprotein metabolism is_obsolete: true replaced_by: HP:0001939 [Term] id: HP:0004368 name: Increased purine level synonym: "Increased purine levels" EXACT layperson [] xref: UMLS:C4025332 is_a: HP:0004352 ! Abnormal circulating purine concentration created_by: peter creation_date: 2008-03-18T06:31:00Z [Term] id: HP:0004369 name: Decreased purine level synonym: "Decreased purine levels" EXACT layperson [] xref: UMLS:C4025331 is_a: HP:0004352 ! Abnormal circulating purine concentration created_by: peter creation_date: 2008-03-18T06:32:00Z [Term] id: HP:0004370 name: Abnormality of temperature regulation def: "An abnormality of temperature homeostasis." [HPO:probinson] synonym: "Abnormality of temperature regulation" EXACT layperson [] synonym: "Body temperature changes" RELATED layperson [] synonym: "Poor temperature regulation" EXACT layperson [] xref: MSH:D001832 xref: UMLS:C0005904 xref: UMLS:C1832160 is_a: HP:0012337 ! Abnormal homeostasis created_by: peter creation_date: 2008-03-18T06:34:00Z [Term] id: HP:0004371 name: Abnormality of glycosaminoglycan metabolism def: "Abnormality of glycosaminoglycan metabolism." [HPO:probinson] comment: A glycosaminoglycan is any polysaccharide containing a substantial proportion of aminomonosaccharide residues. Glycosaminoglycan (GAG) are long unbranched polysaccharides consisting of a repeating disaccharide unit. Among the most common GAGs are chondroitin sulfate, dermatan sulfate, chondroitin sulfate, keratan sulfate, heparan sulfate, and hyaluronan. xref: UMLS:C4025330 is_a: HP:0011017 ! Abnormal cellular physiology created_by: peter creation_date: 2008-03-18T06:36:00Z [Term] id: HP:0004372 name: Reduced consciousness/confusion synonym: "Disturbances of consciousness" EXACT layperson [] synonym: "Lowered consciousness" EXACT layperson [] synonym: "Reduced consciousness/confusion" EXACT layperson [] xref: SNOMEDCT_US:3006004 xref: UMLS:C0234428 is_a: HP:0011446 ! Abnormality of higher mental function created_by: peter creation_date: 2008-03-18T07:12:00Z [Term] id: HP:0004373 name: Focal dystonia alt_id: HP:0007140 def: "A type of dystonia that is localized to a specific part of the body." [HPO:probinson] xref: MSH:D020821 xref: SNOMEDCT_US:445006008 xref: UMLS:C0743332 is_a: HP:0001332 ! Dystonia created_by: peter creation_date: 2008-03-18T07:33:00Z [Term] id: HP:0004374 name: Hemiplegia/hemiparesis def: "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength." [HPO:curators] synonym: "Paralysis or weakness of one side of body" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: UMLS:C0375206 is_a: HP:0010549 ! Weakness due to upper motor neuron dysfunction created_by: peter creation_date: 2008-03-18T07:35:00Z [Term] id: HP:0004375 name: Neoplasm of the nervous system def: "A tumor (abnormal growth of tissue) of the nervous system." [HPO:probinson] synonym: "Neoplasia of the nervous system" RELATED [] synonym: "Nervous system cancer" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Tumor of the nervous system" EXACT layperson [HPO:sdoelken] xref: MSH:D009423 xref: NCIT:C3262 xref: SNOMEDCT_US:126950007 xref: UMLS:C0027766 is_a: HP:0011793 ! Neoplasm by anatomical site is_a: HP:0012639 ! Abnormality of nervous system morphology created_by: peter creation_date: 2008-03-18T07:38:00Z [Term] id: HP:0004376 name: Neuroblastic tumors comment: Along with neuroblastomas, ganglioneuromas and ganglioneuroblastomas are collectively known as neuroblastic tumors. xref: UMLS:C1334953 is_a: HP:0100836 ! Malignant neoplasm of the central nervous system created_by: peter creation_date: 2008-03-18T07:39:00Z [Term] id: HP:0004377 name: Hematological neoplasm def: "Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue)." [http://www.ncbi.nlm.nih.gov/mesh?term=Hematologic%20Neoplasms] synonym: "Blood tumor" BROAD layperson [ORCID:0000-0001-5208-3432] xref: MSH:D019337 xref: SNOMEDCT_US:129154003 xref: SNOMEDCT_US:269475001 xref: UMLS:C0376545 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues is_a: HP:0011793 ! Neoplasm by anatomical site created_by: peter creation_date: 2008-03-18T07:44:00Z [Term] id: HP:0004378 name: Abnormality of the anus def: "Abnormality of the anal canal." [HPO:probinson] comment: The anal canal is continuous proximally with the rectum and distally terminates with the anus. synonym: "Abnormality of the anus" EXACT layperson [] xref: UMLS:C4025329 is_a: HP:0012732 ! Anorectal anomaly created_by: peter creation_date: 2008-03-18T08:11:00Z [Term] id: HP:0004379 name: Abnormality of alkaline phosphatase activity def: "An abnormality of alkaline phosphatase activity." [HPO:probinson] comment: Note that the alkaline phosphatase family has four isoenzymes in humans, each of which additionally can have different isoforms. The primary clinical importance of measuring alkaline phosphatase is to check the possibility of bone disease or liver disease. synonym: "Abnormality of ALP activity" EXACT HP:0045077 [] synonym: "Alkaline phosphatase abnormal" RELATED [] xref: UMLS:C4020829 xref: UMLS:C4025328 is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity created_by: peter creation_date: 2008-03-18T08:13:00Z [Term] id: HP:0004380 name: Aortic valve calcification alt_id: HP:0004759 alt_id: HP:0005173 def: "Deposition of calcium salts in the aortic valve." [HPO:probinson] xref: MSH:C562942 xref: SNOMEDCT_US:250978003 xref: UMLS:C0428791 is_a: HP:0001646 ! Abnormal aortic valve morphology is_a: HP:0005146 ! Cardiac valve calcification created_by: peter creation_date: 2008-03-18T08:52:00Z [Term] id: HP:0004381 name: Supravalvular aortic stenosis def: "A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow." [HPO:probinson] xref: Fyler:1430 xref: MSH:D021921 xref: SNOMEDCT_US:268185002 xref: UMLS:C0003499 is_a: HP:0001650 ! Aortic valve stenosis created_by: peter creation_date: 2008-03-18T08:54:00Z [Term] id: HP:0004382 name: Mitral valve calcification alt_id: HP:0005149 alt_id: HP:0200129 def: "Abnormal calcification of the mitral valve." [HPO:probinson] xref: SNOMEDCT_US:473372009 xref: UMLS:C0919718 is_a: HP:0001633 ! Abnormal mitral valve morphology is_a: HP:0005146 ! Cardiac valve calcification created_by: peter creation_date: 2008-03-18T08:55:00Z [Term] id: HP:0004383 name: Hypoplastic left heart def: "Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta." [HPO:probinson, PMID:22192721] comment: Hypoplastic left heart syndrome is an unsatisfactory term describing lethal underdevelopment of the left ventricle (LV). It represents the more severe end of a spectrum of LV hypoplasia, mandating single-ventricle palliation or cardiac transplantation. Less severe borderline ventricular hypoplasia may instead allow various biventricular therapeutic strategies and better long-term outcomes. synonym: "Heart left ventricle hypoplasia" EXACT [] synonym: "Left ventricular hypoplasia" EXACT [] synonym: "Underdeveloped left heart" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D018636 xref: SNOMEDCT_US:62067003 xref: UMLS:C0152101 is_a: HP:0001961 ! Hypoplastic heart is_a: HP:0045017 ! Congenital malformation of the left heart created_by: peter creation_date: 2008-03-18T08:56:00Z [Term] id: HP:0004384 name: Type I truncus arteriosus def: "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries." [DDD:dbrown, HPO:probinson] comment: According to the Van Praagh classification (pmid:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect. synonym: "Persistent truncus arteriosus type I" EXACT [] synonym: "Type 1 truncus arteriosus" EXACT [] xref: Fyler:0510 xref: Fyler:510 xref: UMLS:C1834934 is_a: HP:0001660 ! Truncus arteriosus created_by: peter creation_date: 2008-03-18T08:57:00Z [Term] id: HP:0004385 name: Protracted diarrhea xref: SNOMEDCT_US:236077008 xref: UMLS:C0473133 is_a: HP:0002014 ! Diarrhea created_by: peter creation_date: 2008-03-18T09:00:00Z [Term] id: HP:0004386 name: Gastrointestinal inflammation def: "Inflammation of the alimentary part of the gastrointestinal system." [] synonym: "Gastrointestinal inflammation" EXACT layperson [] synonym: "GI inflammation" EXACT HP:0045077 [] xref: UMLS:C1535950 is_a: HP:0012649 ! Increased inflammatory response is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract created_by: peter creation_date: 2008-03-18T09:01:00Z [Term] id: HP:0004387 name: Enterocolitis def: "An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine)." [HPO:sdoelken] xref: MSH:D004760 xref: SNOMEDCT_US:43752006 xref: UMLS:C0014356 is_a: HP:0100282 ! Acute colitis created_by: peter creation_date: 2008-03-18T09:02:00Z [Term] id: HP:0004388 name: Microcolon def: "A colon of abnormally small caliber." [pmid:3484569] synonym: "Microcolon on contrast enema" RELATED [HPO:skoehler] xref: MSH:C562563 xref: SNOMEDCT_US:18389004 xref: UMLS:C0266200 xref: UMLS:C3553395 is_a: HP:0100811 ! Aplasia/Hypoplasia of the colon created_by: peter creation_date: 2008-03-18T09:02:00Z [Term] id: HP:0004389 name: Intestinal pseudo-obstruction def: "A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded." [HPO:probinson] synonym: "Intestinal pseudoobstruction" EXACT [] xref: MSH:D007418 xref: SNOMEDCT_US:235825006 xref: SNOMEDCT_US:715201005 xref: UMLS:C0021847 is_a: HP:0002242 ! Abnormal intestine morphology is_a: HP:0002579 ! Gastrointestinal dysmotility created_by: peter creation_date: 2008-03-18T09:03:00Z [Term] id: HP:0004390 name: Hamartomatous polyposis def: "Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture." [HPO:sdoelken, pmid:17768394] comment: Patients with Cowden-Syndrom for example often have multiple hamartomatous gastrointestinal polyps. synonym: "Gastrointestinal hamartoma" EXACT [] synonym: "Gastrointestinal hamartomatous polyps" RELATED [HPO:skoehler] synonym: "Hamartomatous polyps" EXACT [] xref: SNOMEDCT_US:27391005 xref: UMLS:C0334092 xref: UMLS:C3277418 is_a: HP:0005266 ! Intestinal polyp is_a: HP:0010566 ! Hamartoma created_by: peter creation_date: 2008-03-18T09:04:00Z [Term] id: HP:0004392 name: Prune belly def: "A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants." [HPO:probinson] comment: Wrinkly folds of skin covering the abdomen as a result of partial or complete lack of abdominal muscles. synonym: "Prune belly" EXACT layperson [] xref: MSH:D011535 xref: SNOMEDCT_US:5187006 xref: UMLS:C0033770 is_a: HP:0004298 ! Abnormality of the abdominal wall created_by: peter creation_date: 2008-03-18T09:08:00Z [Term] id: HP:0004394 name: Multiple gastric polyps xref: MSH:C562464 xref: SNOMEDCT_US:78809005 xref: SNOMEDCT_US:87252009 xref: UMLS:C0236048 is_a: HP:0006753 ! Neoplasm of the stomach created_by: peter creation_date: 2008-03-18T09:11:00Z [Term] id: HP:0004395 name: Malnutrition synonym: "Malnutrition" EXACT layperson [] xref: MSH:D044342 xref: SNOMEDCT_US:248325000 xref: SNOMEDCT_US:2492009 xref: SNOMEDCT_US:47563007 xref: SNOMEDCT_US:65404009 xref: SNOMEDCT_US:70241007 xref: UMLS:C0162429 is_a: HP:0011458 ! Abdominal symptom created_by: peter creation_date: 2008-03-18T09:12:00Z [Term] id: HP:0004396 name: Poor appetite synonym: "Decreased appetite" EXACT layperson [] synonym: "No appetite" RELATED layperson [] synonym: "Poor appetite" EXACT layperson [] xref: SNOMEDCT_US:64379006 xref: UMLS:C0232462 is_a: HP:0011458 ! Abdominal symptom created_by: peter creation_date: 2008-03-18T09:12:00Z [Term] id: HP:0004397 name: Ectopic anus def: "Abnormal displacement or malposition of the anus." [HPO:probinson] subset: hposlim_core synonym: "Abnormal anus position" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Anus malposition" EXACT [] xref: SNOMEDCT_US:5153001 xref: UMLS:C0266231 is_a: HP:0004378 ! Abnormality of the anus created_by: peter creation_date: 2008-03-18T09:13:00Z [Term] id: HP:0004398 name: Peptic ulcer def: "An ulcer of the gastrointestinal tract." [HPO:probinson] comment: A peptic ulcer is defined as an erosion of the mucosa of the gastrointestinal tract, and can occur as esophageal ulcer, gastric ulcer, duodenal ulcer, and Meckel's Diverticulum ulcer. synonym: "Sore in the lining of gastrointestinal tract" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:D010437 xref: SNOMEDCT_US:13200003 xref: UMLS:C0030920 is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract created_by: peter creation_date: 2008-03-18T09:14:00Z [Term] id: HP:0004399 name: Congenital pyloric atresia def: "Congenital atresia of the pylorus." [HPO:probinson] subset: hposlim_core xref: UMLS:C4025327 is_a: HP:0004400 ! Abnormality of the pylorus created_by: peter creation_date: 2008-03-18T09:15:00Z [Term] id: HP:0004400 name: Abnormality of the pylorus def: "An abnormality of the pylorus." [HPO:probinson] xref: UMLS:C4025326 is_a: HP:0002577 ! Abnormality of the stomach created_by: peter creation_date: 2008-03-18T09:15:00Z [Term] id: HP:0004401 name: Meconium ileus alt_id: HP:0002610 alt_id: HP:0004402 def: "Obstruction of the intestine due to abnormally thick meconium." [HPO:probinson] comment: Obstruction of the intestine is known as ileus. synonym: "Distal intestinal obstruction syndrome" RELATED [] synonym: "Meconium ileus in neonates" EXACT [] synonym: "Meconium ileus on ultrasonography" RELATED [HPO:skoehler] xref: SNOMEDCT_US:206523001 xref: SNOMEDCT_US:233662009 xref: SNOMEDCT_US:86092005 xref: UMLS:C0398349 xref: UMLS:C2939175 xref: UMLS:C3553397 is_a: HP:0010676 ! Mechanical ileus created_by: peter creation_date: 2008-03-18T09:16:00Z [Term] id: HP:0004403 name: Proximal esophageal atresia xref: UMLS:C4025325 is_a: HP:0002032 ! Esophageal atresia created_by: peter creation_date: 2008-03-18T09:17:00Z [Term] id: HP:0004404 name: Abnormal nipple morphology def: "An abnormality of the nipple." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the nipple" EXACT layperson [] xref: SNOMEDCT_US:700153004 xref: UMLS:C3839073 is_a: HP:0031093 ! Abnormal breast morphology created_by: peter creation_date: 2008-03-18T09:18:00Z [Term] id: HP:0004405 name: Prominent nipples subset: hposlim_core synonym: "Prominent nipples" EXACT layperson [] xref: UMLS:C1855513 is_a: HP:0004404 ! Abnormal nipple morphology created_by: peter creation_date: 2008-03-18T09:19:00Z [Term] id: HP:0004406 name: Spontaneous, recurrent epistaxis alt_id: HP:0003684 synonym: "Recurrent epistaxes" EXACT [] synonym: "Recurrent epistaxis" EXACT [] synonym: "Recurring nosebleed" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Spontaneous, recurrent nosebleed" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3809715 is_a: HP:0000421 ! Epistaxis created_by: peter creation_date: 2008-03-18T09:20:00Z [Term] id: HP:0004407 name: Bony paranasal bossing xref: UMLS:C1857499 is_a: HP:0012812 ! Fullness of paranasal tissue created_by: peter creation_date: 2008-03-18T09:20:00Z [Term] id: HP:0004408 name: Abnormality of the sense of smell alt_id: HP:0004410 def: "An anomaly in the ability to perceive and distinguish scents (odors)." [] subset: hposlim_core synonym: "Abnormal sense of smell" EXACT layperson [HPO:skoehler] synonym: "Abnormality of olfaction" EXACT [] synonym: "Abnormality of the sense of smell" EXACT layperson [] synonym: "Smell defect" EXACT layperson [] xref: UMLS:C4021655 is_a: HP:0000366 ! Abnormality of the nose is_a: HP:0012638 ! Abnormality of nervous system physiology created_by: peter creation_date: 2008-03-18T09:21:00Z [Term] id: HP:0004409 name: Hyposmia def: "A decreased sensitivity to odorants (that is, a decreased ability to perceive odors)." [HPO:probinson] subset: hposlim_core synonym: "Decreased smell sensation" EXACT [] synonym: "Loss of smell" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Sense of smell impaired" EXACT [] xref: SNOMEDCT_US:83156004 xref: UMLS:C2364082 is_a: HP:0004408 ! Abnormality of the sense of smell created_by: peter creation_date: 2008-03-18T09:21:00Z [Term] id: HP:0004411 name: Deviated nasal septum def: "Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum." [HPO:probinson] subset: hposlim_core synonym: "Crooked nasal septum" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Crooked septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Deviated nasal septum" EXACT layperson [] synonym: "Deviated septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:126660000 xref: UMLS:C0549397 is_a: HP:0000419 ! Abnormality of the nasal septum created_by: peter creation_date: 2008-03-18T09:23:00Z [Term] id: HP:0004414 name: Abnormality of the pulmonary artery def: "An abnormality of the pulmonary artery." [HPO:probinson] synonym: "Abnormality of lung artery" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:128588008 xref: SNOMEDCT_US:198914002 xref: SNOMEDCT_US:36110001 xref: UMLS:C0009681 is_a: HP:0004930 ! Abnormality of the pulmonary vasculature created_by: peter creation_date: 2008-03-18T09:28:00Z [Term] id: HP:0004415 name: Pulmonary artery stenosis def: "An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [HPO:probinson] synonym: "Narrowing of lung artery" EXACT layperson [ORCID:0000-0001-5208-3432] xref: Fyler:1622 xref: MSH:D000071079 xref: SNOMEDCT_US:95441000 xref: UMLS:C0238397 is_a: HP:0030966 ! Abnormal pulmonary artery morphology created_by: peter creation_date: 2008-03-18T09:28:00Z [Term] id: HP:0004416 name: Precocious atherosclerosis synonym: "Premature atherosclerosis" EXACT [] synonym: "Premature plaque build-up in arteries" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021654 xref: UMLS:C4280264 is_a: HP:0002621 ! Atherosclerosis created_by: peter creation_date: 2008-03-18T09:28:00Z [Term] id: HP:0004417 name: Intermittent claudication def: "Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still." [PMID:27770207] comment: Vascular intermittent claudication caused by peripheral arterial disease most often related to severe atherosclerosis. xref: MSH:D007383 xref: SNOMEDCT_US:63491006 xref: UMLS:C0021775 is_a: HP:0025323 ! Abnormal arterial physiology created_by: peter creation_date: 2008-03-18T09:29:00Z [Term] id: HP:0004418 name: Thrombophlebitis def: "Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein)." [HPO:probinson] xref: MSH:D013924 xref: SNOMEDCT_US:64156001 xref: UMLS:C0040046 is_a: HP:0004936 ! Venous thrombosis created_by: peter creation_date: 2008-03-18T09:30:00Z [Term] id: HP:0004419 name: Recurrent thrombophlebitis def: "Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein)." [HPO:probinson] synonym: "Recurrent phlebitis" EXACT [] synonym: "Recurrent thrombosis" EXACT [] xref: UMLS:C3550150 is_a: HP:0004418 ! Thrombophlebitis created_by: peter creation_date: 2008-03-18T09:31:00Z [Term] id: HP:0004420 name: Arterial thrombosis def: "The formation of a blood clot inside an artery." [HPO:probinson] synonym: "Blood clot in artery" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:65198009 xref: UMLS:C0151942 is_a: HP:0001977 ! Abnormal thrombosis created_by: peter creation_date: 2008-03-18T09:32:00Z [Term] id: HP:0004421 name: Elevated systolic blood pressure alt_id: HP:0004956 def: "Abnormal increase in systolic blood pressure." [HPO:probinson] comment: Normal systolic blood pressure is less than 120 mmHg in adults. synonym: "Elevated systolic BP" EXACT HP:0045077 [] xref: UMLS:C1840374 is_a: HP:0032263 ! Increased blood pressure created_by: peter creation_date: 2008-03-18T09:33:00Z [Term] id: HP:0004422 name: Biparietal narrowing def: "A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull)." [HPO:curators] synonym: "Decreased width of the skull" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1854418 xref: UMLS:C4280532 is_a: HP:0002648 ! Abnormality of calvarial morphology created_by: peter creation_date: 2008-03-18T09:35:00Z [Term] id: HP:0004423 name: Cranium bifidum occultum xref: MSH:C566826 xref: SNOMEDCT_US:718099006 xref: UMLS:C1868598 is_a: HP:0002084 ! Encephalocele created_by: peter creation_date: 2008-03-18T09:37:00Z [Term] id: HP:0004425 name: Flat forehead alt_id: HP:0004659 def: "A forehead with abnormal flatness." [HPO:probinson] synonym: "Flat forehead" EXACT layperson [] synonym: "Flattened forehead" EXACT layperson [] synonym: "Frontal flattening" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1857485 is_a: HP:0000290 ! Abnormality of the forehead created_by: peter creation_date: 2008-03-18T09:41:00Z [Term] id: HP:0004426 name: Abnormality of the cheek def: "An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. \"Buccal\" means relating to the cheek. The cheek is part of the midface" [] synonym: "Abnormality of the cheek" EXACT layperson [] synonym: "Abnormality of the cheeks" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Anomaly of the cheeks" NARROW layperson [] synonym: "Deformity of the cheeks" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of the cheeks" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025324 is_a: HP:0000309 ! Abnormality of the midface created_by: peter creation_date: 2008-03-18T09:42:00Z [Term] id: HP:0004428 name: Elfin facies def: "This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations." [HPO:probinson] subset: hposlim_core synonym: "Elf-like facial appearance" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Elf-like facial features" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Leprechaun facies" RELATED [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:69288002 xref: UMLS:C0332606 is_a: HP:0001999 ! Abnormal facial shape created_by: peter creation_date: 2008-03-18T09:43:00Z [Term] id: HP:0004429 name: Recurrent viral infections alt_id: HP:0005364 def: "Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection." [HPO:probinson] xref: UMLS:C1837066 is_a: HP:0002719 ! Recurrent infections created_by: peter creation_date: 2008-03-18T09:45:00Z [Term] id: HP:0004430 name: Severe combined immunodeficiency def: "A combined immunodeficiency primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems." [HPO:curators] synonym: "Immunodeficiency, severe combined" EXACT [] xref: MSH:D016511 xref: SNOMEDCT_US:31323000 xref: UMLS:C0085110 is_a: HP:0005387 ! Combined immunodeficiency created_by: peter creation_date: 2008-03-18T09:46:00Z [Term] id: HP:0004431 name: Complement deficiency def: "An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins." [PMID:24161035] xref: SNOMEDCT_US:24743004 xref: UMLS:C0272242 is_a: HP:0005339 ! Abnormality of complement system created_by: peter creation_date: 2008-03-18T09:51:00Z [Term] id: HP:0004432 name: Agammaglobulinemia alt_id: HP:0008328 def: "Absence or extremely low level of IgA, IgM, and IgM in the circulation." [HPO:probinson] synonym: "Agammaglobulinaemia" EXACT [] xref: MSH:D000361 xref: SNOMEDCT_US:119249001 xref: UMLS:C0001768 is_a: HP:0004313 ! Decreased antibody level in blood created_by: peter creation_date: 2008-03-18T09:47:00Z [Term] id: HP:0004433 name: Secretory IgA deficiency def: "Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens." [HPO:probinson, pmid:2251975] xref: MSH:C562869 xref: SNOMEDCT_US:234554004 xref: UMLS:C0398709 is_a: HP:0002720 ! Decreased circulating IgA level created_by: peter creation_date: 2008-03-18T09:48:00Z [Term] id: HP:0004434 name: C8 deficiency def: "A reduced level of the complement component C8 in circulation." [PMID:8098723] comment: The eighth component of complement (C8) plays an important role in the function of membrane attack complex (MAC) that is generated on target cells upon activation of the complement system. MAC is generated by sequential addition of C5b, C6, C7, C8, and C9 molecules, which results in the transmembrane pore and eventual cell lysis. Individuals with C8 deficiency tend to have recurrent neisserial infections. xref: UMLS:C3151082 is_a: HP:0004431 ! Complement deficiency created_by: peter creation_date: 2008-03-18T09:53:00Z [Term] id: HP:0004437 name: Cranial hyperostosis alt_id: HP:0002698 def: "Excessive growth of the bones of cranium, i.e., of the skull." [HPO:probinson] synonym: "Enlargement of skull bones" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Excessive growth of skull bones" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Hyperostosis of cranial bones" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hyperostosis of cranial vault" EXACT [] synonym: "Hypertrophy of cranial bones" BROAD [ORCID:0000-0001-5889-4463] synonym: "Increased ossification of cranial bones" EXACT [ORCID:0000-0001-5889-4463] synonym: "Overgrowth of skull bones" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Thick skull bones" BROAD layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1832451 xref: UMLS:C4280528 xref: UMLS:C4280529 xref: UMLS:C4280530 xref: UMLS:C4280531 is_a: HP:0002683 ! Abnormality of the calvaria is_a: HP:0100774 ! Hyperostosis created_by: peter creation_date: 2008-03-18T09:57:00Z [Term] id: HP:0004438 name: Hyperostosis frontalis interna def: "Bony overgrowth of the internal (endosteal) surface of the frontal bone." [HPO:probinson] synonym: "Enlargement of the inner surface of the frontal bone" BROAD [ORCID:0000-0001-5889-4463] synonym: "Excessive growth of inner surface of the frontal bone" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hyperostosis of the internal surface of the frontal bone" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypertrophy of the internal surface of the frontal bone" BROAD [ORCID:0000-0001-5889-4463] synonym: "Increased ossification of the internal surface of the frontal bone" BROAD [ORCID:0000-0001-5889-4463] synonym: "Overgrowth of the inner surface of the frontal bone" EXACT [ORCID:0000-0001-5889-4463] synonym: "Overgrowth of the inside of the frontal bone" BROAD [ORCID:0000-0001-5889-4463] synonym: "Thick inner surface of the frontal bone" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Thick internal surface of the frontal bone" BROAD [ORCID:0000-0001-5889-4463] xref: MSH:D006957 xref: SNOMEDCT_US:82054006 xref: UMLS:C0020494 xref: UMLS:C4280524 xref: UMLS:C4280525 xref: UMLS:C4280526 xref: UMLS:C4280527 is_a: HP:0004437 ! Cranial hyperostosis created_by: peter creation_date: 2008-03-18T09:57:00Z [Term] id: HP:0004439 name: Craniofacial dysostosis def: "A characteristic appearance resulting from defective ossification of craniofacial bones." [HPO:probinson] comment: Note: This term is used in the medical literature to describe an appearance of the face of patients with Crouzon syndrome (also called craniofacial dysostosis), which is characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla. This is thus probably mainly used as a bundled term and should be replaced by better descriptions in the future. synonym: "Crouzon syndrome" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:D003394 xref: SNOMEDCT_US:28861008 xref: UMLS:C0010273 is_a: HP:0000271 ! Abnormality of the face is_a: HP:0000929 ! Abnormal skull morphology created_by: peter creation_date: 2008-03-18T09:58:00Z [Term] id: HP:0004440 name: Coronal craniosynostosis alt_id: HP:0002675 alt_id: HP:0002685 alt_id: HP:0002739 alt_id: HP:0004441 def: "Premature closure of the coronal suture of skull." [HPO:probinson] subset: hposlim_core synonym: "Coronal suture craniosynostosis" EXACT [ORCID:0000-0001-5889-4463] synonym: "Coronal suture synostosis" EXACT [ORCID:0000-0001-5889-4463] synonym: "Craniosynostosis of coronal suture" EXACT [] xref: UMLS:C1856266 is_a: HP:0001363 ! Craniosynostosis created_by: peter creation_date: 2008-03-18T09:59:00Z [Term] id: HP:0004442 name: Sagittal craniosynostosis def: "A kind of craniosynostosis affecting the sagittal suture." [HPO:probinson] subset: hposlim_core synonym: "Craniosynostosis, sagittal" EXACT [] synonym: "Craniosynostosis, sagittal suture" EXACT [] synonym: "Early closure of midline skull joint" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Midline skull joint closes early" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Sagittal suture synostosis" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:109418001 xref: UMLS:C0432123 is_a: HP:0001363 ! Craniosynostosis created_by: peter creation_date: 2008-03-18T10:01:00Z [Term] id: HP:0004443 name: Lambdoidal craniosynostosis alt_id: HP:0004486 def: "A kind of craniosynostosis affecting the lambdoidal suture." [HPO:probinson] subset: hposlim_core synonym: "Lambdoid suture craniosynostosis" EXACT [] synonym: "Lambdoid suture synostosis" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:D003398 xref: SNOMEDCT_US:109417006 xref: UMLS:C1833340 is_a: HP:0001363 ! Craniosynostosis created_by: peter creation_date: 2008-03-18T10:01:00Z [Term] id: HP:0004444 name: Spherocytosis alt_id: HP:0004816 def: "The presence of erythrocytes that are sphere-shaped." [HPO:probinson] comment: Erythrocytes are normally biconcave rather than spherical. xref: SNOMEDCT_US:17235000 xref: UMLS:C0553720 is_a: HP:0004447 ! Poikilocytosis created_by: peter creation_date: 2008-03-18T10:05:00Z [Term] id: HP:0004445 name: Elliptocytosis alt_id: HP:0004837 def: "The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear." [HPO:probinson, pmid:16304353] synonym: "Elliptocyte" RELATED [] synonym: "Hereditary elliptocytosis" RELATED [] synonym: "Ovalocytosis" EXACT [https://en.wikipedia.org/wiki/hereditary_elliptocytosis, ORCID:0000-0001-5208-3432] xref: MSH:D004612 xref: SNOMEDCT_US:178935009 xref: SNOMEDCT_US:191169008 xref: SNOMEDCT_US:250242004 xref: UMLS:C0013902 xref: UMLS:C0427480 is_a: HP:0004447 ! Poikilocytosis created_by: peter creation_date: 2008-03-18T10:05:00Z [Term] id: HP:0004446 name: Stomatocytosis alt_id: HP:0004801 def: "The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear." [HPO:probinson, pmid:16304353] synonym: "erythrocyte stomatocytes" EXACT [] synonym: "Red cell stomatocytosis" EXACT [] xref: UMLS:C0677598 is_a: HP:0004447 ! Poikilocytosis created_by: peter creation_date: 2008-03-18T10:05:00Z [Term] id: HP:0004447 name: Poikilocytosis def: "The presence of abnormally shaped erythrocytes." [HPO:probinson] comment: General description for abnormally shaped erythrocytes. xref: SNOMEDCT_US:165479004 xref: UMLS:C0221281 is_a: HP:0001877 ! Abnormal erythrocyte morphology created_by: peter creation_date: 2008-03-18T10:06:00Z [Term] id: HP:0004448 name: Fulminant hepatic failure def: "Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver." [HPO:curators] xref: MSH:D017114 xref: SNOMEDCT_US:197270009 xref: SNOMEDCT_US:235884008 xref: UMLS:C0162557 is_a: HP:0006554 ! Acute hepatic failure created_by: peter creation_date: 2008-03-18T10:09:00Z [Term] id: HP:0004450 name: Preauricular skin furrow def: "A groove of the skin immediately in front of the ear." [HPO:probinson] synonym: "Preauricular skin furrows" EXACT [] synonym: "Preauricular skin groove" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Preauricular skin sulcus" EXACT [ORCID:0000-0001-5889-4463] synonym: "Skin groove behind the ear" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Skin sulcus behind the ear" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1852411 is_a: HP:0000383 ! Abnormality of periauricular region [Term] id: HP:0004451 name: Postauricular skin tag def: "A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear)." [HPO:probinson] synonym: "Postauricular acrochordon" EXACT [ORCID:0000-0001-5889-4463] synonym: "Postauricular fibroepithelial polyp" EXACT [ORCID:0000-0001-5889-4463] synonym: "Skin tag behind the ear" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025323 is_a: HP:0000383 ! Abnormality of periauricular region [Term] id: HP:0004452 name: Abnormality of the middle ear ossicles alt_id: HP:0001759 def: "An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea)." [HPO:probinson] subset: hposlim_core synonym: "Malformed ossicles" EXACT [] synonym: "Ossicular malformation" EXACT [] xref: UMLS:C1836678 is_a: HP:0008609 ! Morphological abnormality of the middle ear [Term] id: HP:0004453 name: Overfolding of the superior helices def: "A condition in which the superior portion of the helix is folded over to a greater degree than normal." [HPO:probinson] synonym: "Overfolding of superior helix" EXACT [] synonym: "Reduced anterior-posterior diameter of vertebral bodies" EXACT [] xref: UMLS:C1865304 is_a: HP:0000396 ! Overfolded helix [Term] id: HP:0004454 name: Abnormal middle ear reflexes xref: UMLS:C1970887 is_a: HP:0011452 ! Functional abnormality of the middle ear [Term] id: HP:0004458 name: Dilatated internal auditory canal def: "The presence of a dilated inner part of external acoustic meatus." [HPO:probinson] synonym: "Bulbous internal auditory canal" EXACT [] synonym: "Enlarged internal auditory canal" EXACT [] xref: UMLS:C2676973 is_a: HP:0011384 ! Abnormality of the internal auditory canal [Term] id: HP:0004459 name: Exostosis of the external auditory canal def: "A benign bony growth projecting outward from a bone surface within the external auditory canal." [HPO:probinson] synonym: "External auditory canal exostoses" EXACT [] xref: SNOMEDCT_US:19560007 xref: UMLS:C0155411 is_a: HP:0000372 ! Abnormality of the auditory canal is_a: HP:0040095 ! Neoplasm of the outer ear is_a: HP:0100777 ! Exostoses [Term] id: HP:0004461 name: Congenital earlobe sinuses synonym: "Posterior wedging" EXACT [] xref: UMLS:C1969394 is_a: HP:0000363 ! Abnormality of earlobe [Term] id: HP:0004463 name: Absent brainstem auditory responses def: "Lack of measurable response to stimulation of auditory evoked potentials." [HPO:probinson] synonym: "No auditory brainstem response" EXACT [] xref: UMLS:C1836742 is_a: HP:0006958 ! Abnormal auditory evoked potentials [Term] id: HP:0004464 name: Postauricular pit def: "Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit." [HPO:sdoelken] subset: hposlim_core synonym: "Pit behind the ear" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Postauricular earpits" EXACT [ORCID:0000-0001-5889-4463] synonym: "Postauricular fistula" EXACT [] synonym: "Posterior auricular pit" EXACT [] synonym: "Posterior auricular sinus" EXACT [] xref: SNOMEDCT_US:43887004 xref: UMLS:C0395905 is_a: HP:0100277 ! Periauricular skin pits [Term] id: HP:0004466 name: Prolonged brainstem auditory evoked potentials xref: UMLS:C4025322 is_a: HP:0006958 ! Abnormal auditory evoked potentials [Term] id: HP:0004467 name: Preauricular pit alt_id: HP:0000392 alt_id: HP:0004460 alt_id: HP:0005118 alt_id: HP:0008552 alt_id: HP:0008578 def: "Small indentation anterior to the insertion of the ear." [HPO:sdoelken, pmid:19152421] comment: Preauricular cysts and sinuses are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral and are localized anterior to the tragus of the ear. The preauricular sinus is a benign congenital lesion of the preauricular soft tissue consisting of a blind-ending narrow tube or pit. It is also known as preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. It can be asymptomatic or present as an infected and discharging sinus. It presents as a small pit adjacent to the external ear usually located at the anterior margin of the ascending limb of the helix. The preauricular sinus is variably also termed a preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. synonym: "Ear pit" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Pit in front of the ear" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Preauricular earpits" EXACT [] synonym: "Preauricular fistulas" EXACT [] synonym: "Preauricular pits" EXACT [] synonym: "Preauricular sinus" EXACT [] xref: MSH:C563015 xref: SNOMEDCT_US:1955003 xref: SNOMEDCT_US:204271000 xref: SNOMEDCT_US:204272007 xref: UMLS:C0266610 xref: UMLS:C0266625 xref: UMLS:C0546969 is_a: HP:0100277 ! Periauricular skin pits [Term] id: HP:0004468 name: Anomalous tracheal cartilage def: "An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue)." [] synonym: "Abnormal tracheal cartilaginous ring" EXACT [] xref: UMLS:C1863406 is_a: HP:0002778 ! Abnormal trachea morphology created_by: HPO:probinson [Term] id: HP:0004469 name: Chronic bronchitis def: "Chronic inflammation of the bronchi." [HPO:probinson] xref: MSH:D029481 xref: SNOMEDCT_US:63480004 xref: UMLS:C0008677 is_a: HP:0012387 ! Bronchitis [Term] id: HP:0004470 name: Atretic occipital cephalocele def: "A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues." [HPO:probinson] xref: UMLS:C1836600 is_a: HP:0011815 ! Cephalocele [Term] id: HP:0004471 name: Aplasia cutis congenita over the scalp vertex def: "A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline." [HPO:curators] synonym: "Absent cutis congenita of vertex" EXACT [ORCID:0000-0001-5208-3432] synonym: "Aplasia cutis congenita of vertex" EXACT [] xref: UMLS:C1970112 is_a: HP:0007385 ! Aplasia cutis congenita of scalp [Term] id: HP:0004472 name: Mandibular hyperostosis def: "Hyperostosis (bony overgrowth) of the mandible." [HPO:probinson] comment: This bundled term will be made obsolete in future versions of the HPO. synonym: "Excessive growth of mandibular bone" BROAD [ORCID:0000-0001-5889-4463] synonym: "Hyperostosis of lower jaw" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hyperostosis of mandibular bone" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased ossification of lower jaw" RELATED [ORCID:0000-0001-5889-4463] synonym: "Increased ossification of mandible" RELATED [ORCID:0000-0001-5889-4463] synonym: "Increased ossification of mandibular bone" EXACT [ORCID:0000-0001-5889-4463] synonym: "Overgrowth of mandibular bone" BROAD [ORCID:0000-0001-5889-4463] synonym: "Thick lower jaw bone" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Thick mandibular bone" BROAD [ORCID:0000-0001-5889-4463] xref: UMLS:C4025321 xref: UMLS:C4280521 xref: UMLS:C4280522 xref: UMLS:C4280523 is_a: HP:0005465 ! Facial hyperostosis [Term] id: HP:0004474 name: Persistent open anterior fontanelle alt_id: HP:0004475 alt_id: HP:0004483 def: "The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age." [HPO:probinson] synonym: "Anterior fontanelle open in adults" RELATED [] synonym: "Front fontanelle stays open" EXACT [ORCID:0000-0001-5889-4463] synonym: "Persistent, open anterior fontanel" EXACT [] xref: UMLS:C1849537 is_a: HP:0001476 ! Delayed closure of the anterior fontanelle [Term] id: HP:0004476 name: Aplasia cutis congenita over parietal area def: "A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area." [HPO:curators] synonym: "Absent cutis congenita over parietal area" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C1863492 is_a: HP:0007385 ! Aplasia cutis congenita of scalp [Term] id: HP:0004478 name: Ethmoidal encephalocele xref: UMLS:C1843495 is_a: HP:0011817 ! Basal encephalocele [Term] id: HP:0004481 name: Progressive macrocephaly alt_id: HP:0000261 def: "The progressive development of an abnormally large skull." [HPO:probinson] synonym: "Macrocephaly, progressive" EXACT [] synonym: "Progressively abnormally enlarging cranium" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Progressively abnormally enlarging skull" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1859896 is_a: HP:0000256 ! Macrocephaly [Term] id: HP:0004482 name: Relative macrocephaly alt_id: HP:0000257 alt_id: HP:0001364 def: "A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account." [HPO:curators] synonym: "Disproportionately large head" EXACT [] synonym: "Macrocephaly, relative" EXACT [] synonym: "Relatively large head" EXACT layperson [] xref: SNOMEDCT_US:3961000119101 xref: UMLS:C1849075 is_a: HP:0000256 ! Macrocephaly [Term] id: HP:0004484 name: Craniofacial asymmetry def: "Asymmetry of the bones of the skull and the face." [HPO:curators] synonym: "Abnormality of craniofacial shape" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of craniofacial shape" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Uneven craniofacial structures" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025320 is_a: HP:0000267 ! Cranial asymmetry is_a: HP:0000324 ! Facial asymmetry is_a: HP:0011821 ! Abnormality of facial skeleton [Term] id: HP:0004485 name: Cessation of head growth def: "Stagnation of head growth seen as flattening of the head circumference curve." [HPO:probinson] synonym: "Cranium stopped growing" EXACT [ORCID:0000-0001-5889-4463] synonym: "Head stopped growing" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Skull stopped growing" BROAD layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025319 is_a: HP:0005484 ! Postnatal microcephaly [Term] id: HP:0004487 name: Acrobrachycephaly def: "An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures." [HPO:curators] xref: SNOMEDCT_US:711039004 xref: UMLS:C1863395 is_a: HP:0000248 ! Brachycephaly [Term] id: HP:0004488 name: Macrocephaly at birth def: "The presence of an abnormally large skull with onset at birth." [HPO:probinson] subset: hposlim_core synonym: "Big cranium present at birth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Big cranium present since birth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Big head present at birth" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Big head present since birth" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Big skull present at birth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Big skull present since birth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Congenital large cranium" EXACT [ORCID:0000-0001-5889-4463] synonym: "Congenital large head" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Congenital large skull" EXACT [ORCID:0000-0001-5889-4463] synonym: "Congenital macrocephaly" EXACT [] synonym: "Head circumference large for gestational age" EXACT [] synonym: "Large cranium present at birth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Large cranium present since birth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Large head present at birth" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Large head present since birth" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Large skull present at birth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Large skull present since birth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1836599 is_a: HP:0000256 ! Macrocephaly [Term] id: HP:0004490 name: Calvarial hyperostosis def: "Excessive growth of the calvaria." [HPO:probinson] comment: The calvaria (skull cap) is made up of the frontal, occipital, right and left parietal, right and left temporal, sphenoid, and ethmoid bones, and thus comprises the upper dome-like part of the skull and does not include the lower jaw. synonym: "Enlargement of calvarial bones" BROAD [ORCID:0000-0001-5889-4463] synonym: "Excessive growth of calvarial bones" BROAD [ORCID:0000-0001-5889-4463] synonym: "Hyperostosis of calvarial bones" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypertrophy of calvarial bones" BROAD [ORCID:0000-0001-5889-4463] synonym: "Increased ossification of calvarial bones" EXACT [ORCID:0000-0001-5889-4463] synonym: "Overgrowth of calvarial bones" BROAD [ORCID:0000-0001-5889-4463] synonym: "Overgrowth of skullcap" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Thick calvarial bones" BROAD [ORCID:0000-0001-5889-4463] xref: MSH:C537963 xref: UMLS:C1863351 xref: UMLS:C4280519 xref: UMLS:C4280520 is_a: HP:0004437 ! Cranial hyperostosis [Term] id: HP:0004491 name: Large posterior fontanelle def: "An enlargement of the posterior fontanelle relative to age-dependent norms." [HPO:probinson] synonym: "Large posterior fontanel" EXACT [] xref: UMLS:C1855233 is_a: HP:0000239 ! Large fontanelles [Term] id: HP:0004492 name: Widely patent fontanelles and sutures alt_id: HP:0002646 alt_id: HP:0005492 def: "An abnormally increased width of the cranial fontanelles and sutures." [HPO:probinson] comment: This term indicates that both the fontanelles and the sutures are widely patent and thus represents a severe form of delay in closure of the fontanelles/sutures. synonym: "Widely patent fontanels and sutures" EXACT [] xref: UMLS:C1849300 is_a: HP:0000239 ! Large fontanelles is_a: HP:0010537 ! Wide cranial sutures [Term] id: HP:0004493 name: Craniofacial hyperostosis def: "Excessive growth of the craniofacial bones." [HPO:probinson] subset: hposlim_core synonym: "Enlargement of craniofacial bones" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Excessive bone growth of the skull and face" EXACT layperson [orcid.org/0000-0002-6548-5200] synonym: "Excessive growth of craniofacial bones" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Hyperostosis of craniofacial bones" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypertrophy of craniofacial bones" BROAD [ORCID:0000-0001-5889-4463] synonym: "Increased ossification of craniofacial bones" EXACT [ORCID:0000-0001-5889-4463] synonym: "Overgrowth of craniofacial bones" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Thick craniofacial bones" BROAD layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1868085 xref: UMLS:C4280516 xref: UMLS:C4280517 xref: UMLS:C4280518 is_a: HP:0000271 ! Abnormality of the face is_a: HP:0004437 ! Cranial hyperostosis is_a: HP:0011821 ! Abnormality of facial skeleton [Term] id: HP:0004495 name: Thin anteverted nares comment: This bundled term will be made obsolete in future versions of the HPO and should not be used for new annotations. xref: UMLS:C1834056 is_a: HP:0000463 ! Anteverted nares [Term] id: HP:0004496 name: Posterior choanal atresia def: "Absence or abnormal closure of the posterior portion of the choana (the posterior nasal aperture)." [HPO:curators] xref: MSH:C562435 xref: UMLS:C0220723 is_a: HP:0000453 ! Choanal atresia [Term] id: HP:0004499 name: Chronic rhinitis due to narrow nasal airway synonym: "Chronic nasal inflammation due to narrow nasal airway" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025318 is_a: HP:0002257 ! Chronic rhinitis [Term] id: HP:0004502 name: Bilateral choanal atresia def: "Bilateral absence (atresia) of the posterior nasal aperture (choana)." [HPO:probinson] synonym: "Bilateral blockage of the rear opening of the nasal cavity" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Bilateral obstruction of the rear opening of the nasal cavity" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025317 is_a: HP:0000453 ! Choanal atresia [Term] id: HP:0004510 name: Pancreatic islet-cell hyperplasia alt_id: HP:0001736 alt_id: HP:0006275 def: "Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells." [HPO:probinson] comment: The islets of Langerhans contain the alpha cells (producing glucagon), beta cells (insulin and amylin), delta cells (somatostatin),PP cells (pancreatic polypeptide), and the epsilon cells (ghrelin). synonym: "Hyperplastic islets of langerhans" EXACT [] synonym: "Hypertrophic pancreatic islets" EXACT [] synonym: "Islet of Langerhans hyperplasia" EXACT [] synonym: "Islets of langerhans hypertrophy" EXACT [] synonym: "Pancreatic islet-cell hypertrophy" EXACT [] xref: UMLS:C0597167 is_a: HP:0006476 ! Abnormality of the pancreatic islet cells [Term] id: HP:0004523 name: Long eyebrows def: "Increased length of the hairs of the eyebrows." [HPO:probinson] synonym: "Elongated eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased horizontal length of eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased transverse length of eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Long eyebrows" EXACT layperson [] xref: UMLS:C3280131 is_a: HP:0000534 ! Abnormal eyebrow morphology [Term] id: HP:0004524 name: Temporal hypotrichosis def: "Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull)." [HPO:curators] synonym: "Reduced hair growth in temporal region" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025316 is_a: HP:0011361 ! Congenital abnormal hair pattern [Term] id: HP:0004527 name: Large clumps of pigment irregularly distributed along hair shaft synonym: "Large clumps of pigment irregularly distributed along hair shaft" EXACT layperson [] xref: UMLS:C4025315 is_a: HP:0002220 ! Melanin pigment aggregation in hair shafts [Term] id: HP:0004528 name: Generalized hypotrichosis alt_id: HP:0004513 def: "Reduced or lacking hair growth in a generalized distribution." [HPO:probinson] synonym: "Hypotrichosis, generalized" EXACT [] xref: UMLS:C4021653 is_a: HP:0001006 ! Hypotrichosis [Term] id: HP:0004529 name: Atrophic, patchy alopecia xref: UMLS:C4025314 is_a: HP:0002232 ! Patchy alopecia [Term] id: HP:0004532 name: Sacral hypertrichosis def: "Excessive, increased hair growth located in the sacral region." [HPO:probinson] xref: UMLS:C4025313 is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0004535 name: Anterior cervical hypertrichosis alt_id: HP:0004517 alt_id: HP:0004773 def: "Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence." [HPO:probinson, pmid:20400390] synonym: "Congenital cervical hypertrichosis" EXACT [] synonym: "Hypertrichosis, congenital anterior cervical" EXACT [] xref: MSH:C538390 xref: UMLS:C1838123 is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0004540 name: Congenital, generalized hypertrichosis alt_id: HP:0004547 alt_id: HP:0004769 def: "A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth." [HPO:probinson] comment: Hypertrichosis refers to excessive, abnormal hairiness. synonym: "Congenital generalized hypertrichosis" EXACT [] synonym: "Hypertrichosis universalis" EXACT [] xref: MSH:C538388 xref: UMLS:C1855900 is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0004544 name: Pointed frontal hairline synonym: "Pointed hairline at front of head" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025312 is_a: HP:0000599 ! Abnormality of the frontal hairline [Term] id: HP:0004552 name: Scarring alopecia of scalp synonym: "Cicatricial alopecia" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hair loss on scalp from scarring condition" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C3806301 is_a: HP:0000987 ! Atypical scarring of skin is_a: HP:0002293 ! Alopecia of scalp [Term] id: HP:0004554 name: Generalized hypertrichosis alt_id: HP:0004543 alt_id: HP:0004766 def: "Generalized excessive, abnormal hairiness." [HPO:probinson] xref: UMLS:C3277940 is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0004557 name: Anterior vertebral fusion xref: UMLS:C1969393 is_a: HP:0002948 ! Vertebral fusion [Term] id: HP:0004558 name: Cervical platyspondyly alt_id: HP:0005641 def: "A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine." [HPO:probinson] synonym: "Flattened cervical vertebral bodies" EXACT [] xref: UMLS:C1856641 is_a: HP:0000926 ! Platyspondyly is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0004562 name: Beaking of vertebral bodies T12-L3 xref: UMLS:C1854941 is_a: HP:0004568 ! Beaking of vertebral bodies [Term] id: HP:0004563 name: Increased spinal bone density def: "Increased bone density affecting the bones of the spine (vertebral column)." [HPO:curators] synonym: "Compact spinal bone" RELATED [ORCID:0000-0001-5889-4463] synonym: "Concrete spinal bone" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Dense spinal bone" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Eburnation of spinal bone" RELATED [ORCID:0000-0001-5889-4463] synonym: "Increased density of spinal bone" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "increased spinal bone density Z" RELATED [] synonym: "Ivory spinal bone" EXACT [ORCID:0000-0001-5889-4463] synonym: "Sclerosis of spinal bone" RELATED [ORCID:0000-0001-5889-4463] xref: UMLS:C4020828 xref: UMLS:C4280254 xref: UMLS:C4280513 xref: UMLS:C4280514 xref: UMLS:C4280515 is_a: HP:0004330 ! Increased skull ossification [Term] id: HP:0004565 name: Severe platyspondyly alt_id: HP:0004564 synonym: "platyspondyly, extreme" EXACT [] xref: UMLS:C1850293 is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0004566 name: Pear-shaped vertebrae def: "Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours." [HPO:probinson, pmid:16167086] synonym: "Pear-shaped vertebral bodies" EXACT [] xref: UMLS:C1866731 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004568 name: Beaking of vertebral bodies alt_id: HP:0003313 alt_id: HP:0003315 alt_id: HP:0004569 alt_id: HP:0004577 alt_id: HP:0004584 alt_id: HP:0005122 def: "Anterior tongue-like protrusions of the vertebral bodies." [HPO:probinson] subset: hposlim_core synonym: "anterior beaking" EXACT [] synonym: "Anterior beaking of vertebrae" EXACT [] synonym: "Anterior beaking of vertebral bodies" EXACT [] synonym: "anterior wedging" EXACT [] synonym: "Beaked vertebral bodies" EXACT [] synonym: "Vertebral tongue-like protrusion" EXACT [] synonym: "Wedged vertebrae" EXACT [] xref: SNOMEDCT_US:19888007 xref: UMLS:C0264112 xref: UMLS:C1856599 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004570 name: Increased vertebral height alt_id: HP:0005693 def: "Increased top to bottom height of vertebral bodies." [HPO:probinson] synonym: "Tall vertebral bodies" EXACT [] xref: UMLS:C1864853 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004571 name: Widening of cervical spinal canal xref: UMLS:C3807591 is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0004573 name: Anterior wedging of T11 def: "An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front)." [HPO:probinson] synonym: "Anterior wedging of the 11th thoracic vertebra" EXACT [] synonym: "Wedge-shaped 11th thoracic vertebra" EXACT [] xref: UMLS:C4021652 is_a: HP:0008422 ! Vertebral wedging [Term] id: HP:0004575 name: Fusion of midcervical facet joints xref: UMLS:C1847394 is_a: HP:0002949 ! Fused cervical vertebrae [Term] id: HP:0004576 name: Sclerotic vertebral endplates def: "Sclerosis (increased density) affecting vertebral end plates." [HPO:curators] synonym: "Large joint contractures" EXACT [] xref: UMLS:C1859698 is_a: HP:0005106 ! Abnormality of the vertebral endplates [Term] id: HP:0004580 name: Anterior scalloping of vertebral bodies def: "An excessive concavity of the anterior surface of one or more vertebral bodies." [HPO:curators] comment: One cause of anterior scalloping is an aortic aneurysm, which because of its pulsatile pressure can cause a convex defect along the anterior surface of an adjacent vertebra body. The defect may have a sclerotic margin. synonym: "Anterior scalloping vertebral bodies" RELATED [] xref: UMLS:C2673652 is_a: HP:0004586 ! Biconcave vertebral bodies [Term] id: HP:0004581 name: Increased anterior vertebral height xref: UMLS:C1866732 is_a: HP:0004570 ! Increased vertebral height [Term] id: HP:0004582 name: Irregularity of vertebral bodies xref: UMLS:C4025311 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004586 name: Biconcave vertebral bodies alt_id: HP:0002952 alt_id: HP:0004561 alt_id: HP:0004620 def: "Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward." [HPO:probinson] comment: This finding has been called fish or codfish vertebra because of the characteristic biconcave form of fish vertebral bodies. subset: hposlim_core synonym: "Biconcave 'codfish' vertebrae" EXACT [] synonym: "Biconcave vertebrae" EXACT [] synonym: "Codfish vertebrae" EXACT [] synonym: "Fish vertebrae" EXACT [] synonym: "Scalloping of vertebral bodies" EXACT [] xref: UMLS:C1856087 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004589 name: Dysplasia of second lumbar vertebra xref: UMLS:C4025310 is_a: HP:0003468 ! Abnormal vertebral morphology [Term] id: HP:0004590 name: Hypoplastic sacrum synonym: "Small sacrum" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1970816 is_a: HP:0008517 ! Aplasia/Hypoplasia of the sacrum [Term] id: HP:0004591 name: Disc-like vertebral bodies xref: UMLS:C1835444 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004592 name: Thoracic platyspondyly def: "A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine." [HPO:probinson] xref: UMLS:C1862428 is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0004594 name: Hump-shaped mound of bone in central and posterior portions of vertebral endplate xref: UMLS:C1839252 is_a: HP:0003301 ! Irregular vertebral endplates [Term] id: HP:0004598 name: Supernumerary vertebral ossification centers def: "Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine." [HPO:probinson] xref: UMLS:C4025309 is_a: HP:0000926 ! Platyspondyly is_a: HP:0100569 ! Abnormally ossified vertebrae [Term] id: HP:0004599 name: Absent or minimally ossified vertebral bodies xref: UMLS:C1832983 is_a: HP:0100569 ! Abnormally ossified vertebrae [Term] id: HP:0004601 name: Spina bifida occulta at L5 def: "The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin." [HPO:probinson] xref: UMLS:C4025308 is_a: HP:0003298 ! Spina bifida occulta [Term] id: HP:0004602 name: Cervical C2/C3 vertebral fusion alt_id: HP:0004636 def: "Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine." [HPO:probinson] synonym: "Fusion of cervical vertebrae c2-3" EXACT [] synonym: "Klippel-Feil syndrome" EXACT [] xref: MSH:D007714 xref: SNOMEDCT_US:388981000 xref: SNOMEDCT_US:5601008 xref: UMLS:C0022738 is_a: HP:0002949 ! Fused cervical vertebrae [Term] id: HP:0004603 name: Hyperconvex vertebral body endplates xref: UMLS:C4025307 is_a: HP:0005106 ! Abnormality of the vertebral endplates [Term] id: HP:0004605 name: Absent vertebral body mineralization def: "A lack of bone mineralization of the vertebral bodies." [HPO:probinson] xref: UMLS:C1860191 is_a: HP:0004599 ! Absent or minimally ossified vertebral bodies [Term] id: HP:0004606 name: Unossified vertebral bodies alt_id: HP:0008427 def: "A lack of ossification of the vertebral bodies." [HPO:probinson] xref: UMLS:C1860202 is_a: HP:0004599 ! Absent or minimally ossified vertebral bodies [Term] id: HP:0004607 name: Anterior beaking of lower thoracic vertebrae def: "Anterior tongue-like protrusions of the lower thoracic vertebral bodies." [HPO:probinson] xref: UMLS:C4025306 is_a: HP:0004568 ! Beaking of vertebral bodies [Term] id: HP:0004608 name: Anteriorly placed odontoid process def: "Anterior mislocalization of the dens of the axis." [HPO:probinson] xref: UMLS:C1844512 is_a: HP:0003310 ! Abnormality of the odontoid process [Term] id: HP:0004609 name: Patchy distortion of vertebrae xref: UMLS:C4025305 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004610 name: Lumbar spinal canal stenosis def: "An abnormal narrowing of the lumbar spinal canal." [HPO:probinson, pmid:3160275] comment: Symptoms of lumbar spinal canal stenosis include pseudoclaudication (pain, numbness,, or weakness induced by walking and relieved by rest; the prefix pseudo is used to differentiate this manifestation from claudication, which has similar symptoms but is caused by peripheral artery disease). synonym: "Lumbar spinal stenosis" EXACT [] synonym: "Narrow lumbar spinal canal" EXACT [] xref: SNOMEDCT_US:18347007 xref: UMLS:C0158288 is_a: HP:0003416 ! Spinal canal stenosis [Term] id: HP:0004611 name: Anterior concavity of thoracic vertebrae synonym: "Anteriorly concave vertebrae" EXACT [] xref: UMLS:C1839822 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004614 name: Spina bifida occulta at S1 def: "The closed form of spina bifida with incomplete closure of S1 with intact overlying skin." [HPO:probinson] xref: UMLS:C4025304 is_a: HP:0003298 ! Spina bifida occulta [Term] id: HP:0004616 name: Cleft vertebral arch def: "A discontinuity of the vertebral arch, i.e., of the posterior part of a vertebra." [HPO:probinson] synonym: "Cleft vertebral arches" RELATED [] xref: UMLS:C1859458 is_a: HP:0008438 ! Vertebral arch anomaly [Term] id: HP:0004617 name: Butterfly vertebral arch def: "Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends." [HPO:probinson] xref: UMLS:C1861627 is_a: HP:0008438 ! Vertebral arch anomaly [Term] id: HP:0004618 name: Sandwich appearance of vertebral bodies xref: UMLS:C1850134 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004619 name: Lumbar kyphoscoliosis xref: UMLS:C1834953 is_a: HP:0002751 ! Kyphoscoliosis is_a: HP:0004626 ! Lumbar scoliosis is_a: HP:0008454 ! Lumbar kyphosis [Term] id: HP:0004621 name: Enlarged vertebral pedicles def: "Increased size of the vertebral pedicle." [HPO:probinson] comment: The vertebral pedicles are the two short, thick processes, which connect the body of the spinal vertebra to the arch. synonym: "Hyperplastic vertebral pedicles" EXACT [] xref: UMLS:C4025303 is_a: HP:0030277 ! Abnormal vertebral pedicle morphology [Term] id: HP:0004622 name: Progressive intervertebral space narrowing def: "A progressive form of decreased height of the intervertebral disk." [HPO:probinson] xref: UMLS:C1837670 is_a: HP:0002945 ! Intervertebral space narrowing [Term] id: HP:0004625 name: Biconvex vertebral bodies def: "Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates." [HPO:probinson] comment: Note that biconvex vertebral bodies can be a normal finding in newborns. xref: UMLS:C1866675 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004626 name: Lumbar scoliosis xref: UMLS:C2748518 is_a: HP:0002944 ! Thoracolumbar scoliosis [Term] id: HP:0004629 name: Small cervical vertebral bodies alt_id: HP:0008429 def: "Reduced size of cervical vertebrae." [HPO:probinson] synonym: "Small cervical vertebrae" EXACT [] xref: UMLS:C1851130 is_a: HP:0008479 ! Hypoplastic vertebral bodies [Term] id: HP:0004630 name: Anterior beaking of thoracic vertebrae def: "Anterior tongue-like protrusions of thoracic vertebral bodies." [HPO:probinson] xref: UMLS:C4025302 is_a: HP:0004568 ! Beaking of vertebral bodies [Term] id: HP:0004631 name: Decreased cervical spine flexion due to contractures of posterior cervical muscles synonym: "Contracture of post-cervical muscles" EXACT [] synonym: "Inability to touch chin to chest" BROAD layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1839653 xref: UMLS:C4280512 is_a: HP:0001371 ! Flexion contracture [Term] id: HP:0004632 name: Cervical segmentation defect alt_id: HP:0004612 def: "An abnormality related to a defect of vertebral separation of cervical vertebrae during development." [HPO:probinson] synonym: "Cervical spine segmentation defect" EXACT [] xref: UMLS:C1862415 is_a: HP:0003422 ! Vertebral segmentation defect [Term] id: HP:0004633 name: Lower thoracic kyphosis def: "Over curvature of the lower thoracic region, leading to a round back or if sever to a hump." [HPO:probinson] synonym: "Round mid-back" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1864361 is_a: HP:0002942 ! Thoracic kyphosis [Term] id: HP:0004634 name: Cuboid-shaped vertebral bodies synonym: "Cuboid vertebral bodies" EXACT [] xref: UMLS:C2673653 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004635 name: Cervical C5/C6 vertebrae fusion def: "Fusion of the C5 and C6 cervical vertebrae." [HPO:probinson] xref: UMLS:C4025301 is_a: HP:0002949 ! Fused cervical vertebrae [Term] id: HP:0004637 name: Decreased cervical spine mobility synonym: "Limited neck movement" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1859692 is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0004639 name: Elevated amniotic fluid alpha-fetoprotein alt_id: HP:0005985 def: "An elevation of alpha-feto protein measured in the amniotic fluid." [HPO:curators] comment: This feature can be found in pregnancies with fetuses affected by a range of abnormalities including for instance encephalocele. synonym: "Elevated amniotic fluid alpha fetal protein" EXACT [https://en.wikipedia.org/wiki/alpha-fetoprotein, ORCID:0000-0001-5208-3432] synonym: "Elevated amniotic fluid alpha-1-fetoprotein" EXACT [https://en.wikipedia.org/wiki/alpha-fetoprotein, ORCID:0000-0001-5208-3432] synonym: "Elevated amniotic fluid alpha-fetoglobulin" EXACT [https://en.wikipedia.org/wiki/alpha-fetoprotein, ORCID:0000-0001-5208-3432] xref: UMLS:C1839860 is_a: HP:0006254 ! Elevated alpha-fetoprotein [Term] id: HP:0004646 name: Hypoplasia of the nasal bone def: "Underdevelopment of the nasal bone." [HPO:probinson] synonym: "Decreased size of nasal bone" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Deficiency of nasal bone" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Hypotrophic nasal bone" RELATED [ORCID:0000-0001-5889-4463] synonym: "Nasal bone hypoplasia" EXACT [] synonym: "Small nasal bone" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of nasal bone" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021651 is_a: HP:0009924 ! Aplasia/Hypoplasia involving the nose is_a: HP:0010940 ! Aplasia/Hypoplasia of the nasal bone [Term] id: HP:0004660 name: Hypoplasia of facial musculature def: "Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve)." [HPO:probinson] synonym: "Atrophy of facial musculature" RELATED [ORCID:0000-0001-5889-4463] synonym: "Decreased size of facial muscles" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Deficiency of facial musculature" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Hypotrophic facial musculature" RELATED [ORCID:0000-0001-5889-4463] synonym: "Small facial muscles" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of facial muscles" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1834042 xref: UMLS:C4280509 xref: UMLS:C4280510 xref: UMLS:C4280511 is_a: HP:0000301 ! Abnormality of facial musculature [Term] id: HP:0004661 name: Frontalis muscle weakness def: "Reduced strength of the frontalis muscle (which is located on the forehead)." [HPO:curators] synonym: "Weak frontalis muscle" EXACT [] synonym: "Weakness of forehead muscle" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1859438 is_a: HP:0010628 ! Facial palsy is_a: HP:3000004 ! Abnormality of frontalis muscle belly created_by: HPO:skoehler [Term] id: HP:0004664 name: Facial midline hemangioma def: "Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face." [HPO:curators] xref: UMLS:C1862496 is_a: HP:0000329 ! Facial hemangioma [Term] id: HP:0004673 name: Decreased facial expression def: "A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions." [HPO:probinson] synonym: "Decreased facial expression" EXACT layperson [] xref: UMLS:C1862474 is_a: HP:0005346 ! Abnormal facial expression [Term] id: HP:0004676 name: Prominent supraorbital arches in adult xref: UMLS:C1834993 is_a: HP:0000336 ! Prominent supraorbital ridges [Term] id: HP:0004679 name: Large tarsal bones synonym: "Large ankle bones" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1859116 is_a: HP:0001850 ! Abnormality of the tarsal bones [Term] id: HP:0004681 name: Deep longitudinal plantar crease def: "Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot." [pmid:19125433] subset: hposlim_core synonym: "Foot crease" BROAD layperson [ORCID:0000-0001-6908-9849] synonym: "Longitudinal groove on soles" EXACT [] xref: UMLS:C1859223 xref: UMLS:C4280508 is_a: HP:0001869 ! Deep plantar creases [Term] id: HP:0004684 name: Talipes valgus def: "Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot." [HPO:probinson] comment: The phrase talipes valgus is derived from the Latin words talus (ankle), pes (poot), and valgus (outward angulation of the distal segment of a bone). xref: SNOMEDCT_US:79807003 xref: UMLS:C0152236 is_a: HP:0003028 ! Abnormality of the ankles [Term] id: HP:0004686 name: Short third metatarsal alt_id: HP:0010673 def: "Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone." [HPO:probinson] synonym: "Hypoplasia of the 3rd metatarsal bone" EXACT [] synonym: "Short 3rd long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021650 is_a: HP:0010672 ! Abnormality of the third metatarsal bone is_a: HP:0010743 ! Short metatarsal [Term] id: HP:0004688 name: Irregular tarsal bones synonym: "Abnormal shape of ankle bones" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1855240 is_a: HP:0001850 ! Abnormality of the tarsal bones [Term] id: HP:0004689 name: Short fourth metatarsal def: "Short fourth metatarsal bone." [HPO:probinson] synonym: "Bilateral fourth metatarsal shortening" EXACT [] synonym: "Short 4th long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short fourth metatarsals" RELATED [HPO:skoehler] synonym: "Short fourth metatarsus" EXACT [] xref: UMLS:C1848514 is_a: HP:0010743 ! Short metatarsal is_a: HP:0040035 ! Abnormality of the fourth metatarsal bone [Term] id: HP:0004690 name: Thickened Achilles tendon def: "An abnormal thickening of the Achilles tendon." [HPO:probinson] synonym: "Thickened Achilles tendon" EXACT layperson [] xref: UMLS:C0919997 is_a: HP:0005109 ! Abnormality of the Achilles tendon [Term] id: HP:0004691 name: 2-3 toe syndactyly alt_id: HP:0001846 alt_id: HP:0001856 alt_id: HP:0003773 alt_id: HP:0004683 alt_id: HP:0004685 alt_id: HP:0004697 alt_id: HP:0004703 alt_id: HP:0008086 alt_id: HP:0008123 def: "Syndactyly with fusion of toes two and three." [HPO:sdoelken] synonym: "2-3 syndactyly of feet" EXACT [] synonym: "2-3 toe soft tissue syndactyly" EXACT [] synonym: "2-3 toes syndactyly" EXACT [] synonym: "Complete cutaneous syndactyly of second and third toes" EXACT [] synonym: "Cutaneous 2,3 toe syndactyly" EXACT [] synonym: "Cutaneous syndactyly of second and third toes" EXACT [] synonym: "partial or complete syndactyly 2nd-3rd toes" EXACT [] synonym: "Syndactyly of second and third toes" EXACT [] synonym: "Toe syndactyly, 2-3" EXACT [HPO:skoehler] synonym: "Webbed 2nd and 3rd toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:205145001 xref: UMLS:C0432040 is_a: HP:0001770 ! Toe syndactyly [Term] id: HP:0004692 name: 4-5 toe syndactyly alt_id: HP:0005826 alt_id: HP:0005861 def: "Syndactyly with fusion of toes four and five." [HPO:sdoelken] synonym: "Symmetric syndactyly, toes 4 and 5" EXACT [] synonym: "Syndactyly of toes 4 and 5" EXACT [] synonym: "Webbed 4th-5th toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1837836 is_a: HP:0001770 ! Toe syndactyly [Term] id: HP:0004695 name: Calcaneal epiphyseal stippling def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus." [HPO:probinson] xref: UMLS:C1861708 is_a: HP:0010655 ! Epiphyseal stippling [Term] id: HP:0004696 name: Talipes cavus equinovarus xref: UMLS:C1832342 is_a: HP:0001762 ! Talipes equinovarus [Term] id: HP:0004699 name: Osteoporotic metatarsal def: "Decrease in mass and density of the metatarsal bones." [HPO:probinson] xref: UMLS:C1836873 is_a: HP:0001832 ! Abnormal metatarsal morphology [Term] id: HP:0004704 name: Short fifth metatarsal alt_id: HP:0004702 alt_id: HP:0010671 def: "Short (hypoplastic) fifth metatarsal bone." [HPO:probinson] synonym: "Hypoplasia of the fifth metatarsal bone" EXACT [] synonym: "Short 5th long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021649 is_a: HP:0008089 ! Abnormality of the fifth metatarsal bone is_a: HP:0010743 ! Short metatarsal [Term] id: HP:0004712 name: Renal malrotation alt_id: HP:0004730 def: "An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney." [HPO:probinson] comment: The final kidney position in the renal fossa results from the rotation of the kidney with an orientation of the renal pelvis to the medial and the renal calyces to the lateral. Malrotation of the kidney can lead to orientation of the renal pelvis anteriorly, posteriorly and laterally. In most cases, renal malrotation does not cause any symptoms, but, hydronephrosis or stone formation can be observed as complications of renal malformation. synonym: "Abnormal rotation of the kidneys" EXACT layperson [] synonym: "Malrotation of the kidney" EXACT [] xref: SNOMEDCT_US:49008000 xref: UMLS:C0238210 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0004713 name: Reversible renal failure def: "Acute renal failure with resolution of manifestations." [HPO:probinson] synonym: "Reversible kidney failure" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Reversible renal failure" EXACT layperson [] xref: UMLS:C1843276 is_a: HP:0000083 ! Renal insufficiency [Term] id: HP:0004717 name: Axial malrotation of the kidney def: "An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney." [HPO:probinson] xref: UMLS:C4025300 is_a: HP:0004712 ! Renal malrotation [Term] id: HP:0004719 name: Hyperechogenic kidneys def: "An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal." [HPO:probinson] xref: UMLS:C3275899 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0004722 name: Thickening of the glomerular basement membrane def: "Increase in thickness of the basal lamina of the glomerulus of the kidney." [HPO:probinson] comment: This finding is demonstrated on renal biopsy. xref: SNOMEDCT_US:264932002 xref: UMLS:C0445347 is_a: HP:0000095 ! Abnormality of renal glomerulus morphology [Term] id: HP:0004724 name: Calcium nephrolithiasis def: "The presence of calcium-containing calculi (stones) in the kidneys." [HPO:probinson] comment: The overwhelming majority of renal calculi contain calcium. synonym: "Ca kidney stone" EXACT HP:0045077 [] synonym: "Ca nephrolithiasis" EXACT HP:0045077 [] synonym: "Ca2+ kidney stone" EXACT HP:0045077 [] synonym: "Ca2+ nephrolithiasis" EXACT HP:0045077 [] synonym: "Calcium kidney stone" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1855801 is_a: HP:0000787 ! Nephrolithiasis [Term] id: HP:0004727 name: Impaired renal concentrating ability alt_id: HP:0005568 def: "A defect in the ability to concentrate the urine." [HPO:probinson] comment: An impairment in renal concentrating ability can be easily recognized by the maximum concentrating ability (Umax) as determined by the urine osmolality reached after a fixed period of dehydration. Inability to maximally concentrate the urine is related to one or both of two basic tubular defects: 1) a failure of maximal free-water generation by the diluting segment in the ascending limb of Henle's loop; and 2) a failure of the distal tubular epithelium to achieve maximum permeability to water during water deprivation. synonym: "Urine concentrating defect" EXACT [] synonym: "Urine concentration defect" EXACT [] xref: UMLS:C1859819 is_a: HP:0011038 ! Abnormality of renal resorption [Term] id: HP:0004729 name: Acute tubulointerstitial nephritis def: "Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules." [HPO:probinson] xref: MSH:C564356 xref: UMLS:C1843274 is_a: HP:0001970 ! Tubulointerstitial nephritis [Term] id: HP:0004732 name: Impaired renal uric acid clearance def: "A reduction in the ability of the kidneys to remove uric acid from the serum." [HPO:probinson] xref: UMLS:C1969371 is_a: HP:0011036 ! Abnormality of renal excretion [Term] id: HP:0004734 name: Renal cortical microcysts alt_id: HP:0000814 def: "Cysts of microscopic size confined to the cortex of the kidney." [Eurenomics:ewuehl] synonym: "Cortical microcysts" EXACT [] synonym: "Multiple renal cortical microcysts" EXACT [] synonym: "Multiple small renal cortical cysts" EXACT [] xref: UMLS:C1865877 is_a: HP:0000803 ! Renal cortical cysts [Term] id: HP:0004736 name: Crossed fused renal ectopia def: "A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys." [HPO:probinson] synonym: "Ectopic kidney with fusion" EXACT [] xref: UMLS:C1835796 is_a: HP:0000086 ! Ectopic kidney [Term] id: HP:0004737 name: Global glomerulosclerosis def: "Complete and diffuse scarring of glomerulus." [Eurenomics:ewuehl] comment: All portions of all glomeruli are affected. xref: UMLS:C1865276 is_a: HP:0000096 ! Glomerulosclerosis [Term] id: HP:0004742 name: Abnormal renal collecting system morphology alt_id: HP:0004731 def: "An abnormality of the renal collecting system." [HPO:probinson] synonym: "Abnormal collecting system" EXACT [] synonym: "Abnormality of the renal collecting system" EXACT [] synonym: "Renal collecting system anomalies" EXACT [] xref: UMLS:C1851303 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0004743 name: Chronic tubulointerstitial nephritis def: "Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules." [HPO:probinson] xref: SNOMEDCT_US:60926001 xref: UMLS:C0238304 is_a: HP:0001970 ! Tubulointerstitial nephritis [Term] id: HP:0004746 name: Glomerular subendothelial electron-dense deposits def: "Electron dense deposits at the glomerular basement membrane," [Eurenomics:ewuehl, pmid:20301598] comment: Subendothelial electron-dense deposits are a characteristc feature of dense-deposit disease. synonym: "Dense deposit disease" RELATED [] synonym: "Membranoproliferative glomerulonephritis type II" RELATED [] xref: MSH:D015432 xref: SNOMEDCT_US:59479006 xref: UMLS:C0268743 is_a: HP:0030949 ! Glomerular deposits [Term] id: HP:0004749 name: Atrial flutter def: "A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit." [HPO:probinson] comment: Atrial flutter can lead to palpitations, fatigue, dyspnea, and chest pain. Atrial flutter can be paroxysmal or persistent. xref: MSH:D001282 xref: SNOMEDCT_US:5370000 xref: UMLS:C0004239 is_a: HP:0001692 ! Atrial arrhythmia [Term] id: HP:0004751 name: Paroxysmal ventricular tachycardia alt_id: HP:0005141 def: "Episodes of ventricular tachycardia that have a sudden onset and ending." [] synonym: "Episodes of ventricular tachycardia" EXACT [] xref: SNOMEDCT_US:66657009 xref: UMLS:C0030591 is_a: HP:0004756 ! Ventricular tachycardia [Term] id: HP:0004752 name: Congenital atrioventricular dissociation def: "A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset." [HPO:probinson] xref: UMLS:C4025299 is_a: HP:0011709 ! Atrioventricular dissociation [Term] id: HP:0004754 name: Permanent atrial fibrillation def: "AF that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent." [HPO:probinson, pmid:12860883] comment: The natural history of atrial fibrillation (AF) is characterized by a gradual worsening with time. AF itself produces changes in atrial function and structure. Note there is no precise definition of the duration of AF required to be regarded as chronic. synonym: "Chronic atrial fibrillation" RELATED [] xref: SNOMEDCT_US:426749004 xref: SNOMEDCT_US:440028005 xref: UMLS:C0694539 xref: UMLS:C2586056 is_a: HP:0005110 ! Atrial fibrillation [Term] id: HP:0004755 name: Supraventricular tachycardia def: "Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles." [DDD:dbrown, HPO:probinson] comment: A narrow complex (QRS width less than 120 milliseconds) reflects rapid activation of the ventricles via the normal conduction pathway, i.e. His-Purkinje system, which in turn suggests that the tachycardia originated above the AV node and is thus supraventricular. synonym: "Supraventricular tachyarrhythmia" EXACT [] synonym: "SVT" EXACT HP:0045077 [] xref: MSH:D013617 xref: SNOMEDCT_US:6456007 xref: UMLS:C0039240 xref: UMLS:C1698480 is_a: HP:0001649 ! Tachycardia is_a: HP:0005115 ! Supraventricular arrhythmia [Term] id: HP:0004756 name: Ventricular tachycardia def: "A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms)." [] comment: Ventricular tachycardia (VT) is a potentially life-threatening ventricular arrhythmia that presents as a wide QRS complex tachycardia, and is defined as three or more consecutive QRS complexes with a duration longer than 120 milliseconds (ms) and a rate of 100 beats per minute or more, whereby the complexes have a ventricular origin. VT can be subdivided as follows: (i) sustained VT persists for 30 seconds or more; (ii) non-sustained VT lasts less than 30 seconds; (iii) monomorphic VT displays a uniform QRS morphology; and (iv) polymorphic VT displays QRS morphologies that variy from beat to beat. VT is observed most commonly in individuals with structural heart disease or acute myocardial infarction (MI). VT may also be observed in in the setting of drug toxicity or electrolyte abnormalities or in individuals with Mendelian disease. xref: Fyler:7160 xref: MSH:D017180 xref: SNOMEDCT_US:25569003 xref: UMLS:C0042514 is_a: HP:0001649 ! Tachycardia [Term] id: HP:0004757 name: Paroxysmal atrial fibrillation def: "Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously." [HPO:probinson] synonym: "Atrial fibrillation, paroxysmal" EXACT [HPO:skoehler] xref: MSH:D001281 xref: SNOMEDCT_US:282825002 xref: UMLS:C0235480 is_a: HP:0005110 ! Atrial fibrillation [Term] id: HP:0004758 name: Effort-induced polymorphic ventricular tachycardia def: "Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration." [PMID:15913575] synonym: "Catecholaminergic polymorphic ventricular tachycardia" EXACT [] synonym: "Exercise-induced polymorphic ventricular tachycardia" EXACT [] xref: UMLS:C4025298 is_a: HP:0004756 ! Ventricular tachycardia [Term] id: HP:0004759 name: obsolete Nodular calcific aortic valve disease is_obsolete: true [Term] id: HP:0004760 name: obsolete Congenital septal defect is_obsolete: true consider: HP:0001671 [Term] id: HP:0004761 name: Post-angioplasty coronary artery restenosis xref: UMLS:C2676505 is_a: HP:0001677 ! Coronary artery atherosclerosis [Term] id: HP:0004762 name: Hypoplasia of right ventricle alt_id: HP:0004951 def: "Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells." [MP:0010422] synonym: "Heart right ventricle hypoplasia" EXACT [ORCID:0000-0001-5208-3432] synonym: "Small right heart chamber" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Underdeveloped right heart chamber" EXACT layperson [ORCID:0000-0001-6908-9849] xref: Fyler:1821 xref: UMLS:C4082954 is_a: HP:0001707 ! Abnormal right ventricle morphology [Term] id: HP:0004763 name: Paroxysmal supraventricular tachycardia alt_id: HP:0004765 def: "An episodic form of supraventricular tachycardia with abrupt onset and termination." [pmid:18025404] comment: PSVT is a term used to denote intermittent supraventricular tachycardia other than atrial fibrillation, atrial flutter and multifocal atrial tachycardia (AT). The major causes are atrioventricular reentrant tachycardia (AVNRT), atrioventricular reentrant tachycardia (AVRT), and sinoatrial node reentrant tachycardia (SNRT). synonym: "Episodic rapid heart beat" BROAD layperson [ORCID:0000-0001-6908-9849] synonym: "Episodic supraventricular tachycardia" EXACT [] xref: SNOMEDCT_US:67198005 xref: UMLS:C0030590 xref: UMLS:C4280507 is_a: HP:0004755 ! Supraventricular tachycardia [Term] id: HP:0004764 name: Myxomatous mitral valve degeneration def: "Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view." [HPO:probinson, pmid:21143934] xref: SNOMEDCT_US:253395003 xref: SNOMEDCT_US:42069006 xref: UMLS:C0264885 is_a: HP:0001634 ! Mitral valve prolapse [Term] id: HP:0004768 name: Sparse anterior scalp hair def: "Decreased number of head hairs per unit area on the anterior region of the scalp." [HPO:probinson] synonym: "Sparse scalp hair at front of head" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Thin scalp hair at front of head" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1866246 is_a: HP:0000599 ! Abnormality of the frontal hairline is_a: HP:0002209 ! Sparse scalp hair [Term] id: HP:0004771 name: Premature graying of body hair synonym: "Premature graying of body hair" EXACT layperson [] xref: UMLS:C1849125 is_a: HP:0002216 ! Premature graying of hair [Term] id: HP:0004779 name: Brittle scalp hair alt_id: HP:0004776 def: "Fragile, easily breakable scalp hair." [DDD:cmoss] synonym: "Brittle scalp hair" EXACT layperson [] xref: UMLS:C4025296 is_a: HP:0002299 ! Brittle hair [Term] id: HP:0004780 name: Elbow hypertrichosis def: "Excessive, increased hair growth located in the elbow region." [HPO:probinson] synonym: "Hairy elbow" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Hairy elbow syndrome" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Hypertrichosis cubiti" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4025295 is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0004782 name: Hypotrichosis of the scalp alt_id: HP:0004526 def: "Reduced or lacking hair growth of the scalp." [HPO:curators] synonym: "Hypotrichosis on scalp" EXACT [] synonym: "Reduced/lack of hair on scalp" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Scalp hypotrichosis" EXACT [] xref: UMLS:C1873509 is_a: HP:0001006 ! Hypotrichosis [Term] id: HP:0004783 name: Duodenal polyposis def: "Presence of multiple polyps in the duodenum." [HPO:probinson] synonym: "Multiple duodenal polyps" EXACT [] xref: SNOMEDCT_US:301797007 xref: UMLS:C0578477 is_a: HP:0030256 ! Small intestinal polyposis [Term] id: HP:0004784 name: Juvenile gastrointestinal polyposis def: "The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps." [HPO:probinson, pmid:25022750] synonym: "Juvenile GI polyposis" EXACT HP:0045077 [] xref: UMLS:C4025294 is_a: HP:0004390 ! Hamartomatous polyposis [Term] id: HP:0004785 name: Malrotation of colon def: "An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis." [HPO:probinson] xref: SNOMEDCT_US:6477005 xref: UMLS:C0266196 is_a: HP:0002250 ! Abnormal large intestine morphology is_a: HP:0002566 ! Intestinal malrotation [Term] id: HP:0004786 name: Jejunal diverticula xref: UMLS:C4025293 is_a: HP:0002256 ! Small bowel diverticula [Term] id: HP:0004787 name: Fulminant hepatitis def: "Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice." [HPO:probinson, pmid:18825677] comment: Note that different definitions of fulminant hepatitis are used in the medical literature. xref: SNOMEDCT_US:427044009 xref: UMLS:C0302809 is_a: HP:0004448 ! Fulminant hepatic failure is_a: HP:0012115 ! Hepatitis [Term] id: HP:0004788 name: Intestinal lymphedema def: "Fluid retention and edema in the intestine caused by a compromised lymphatic system." [HPO:probinson] xref: UMLS:C4025292 is_a: HP:0001004 ! Lymphedema is_a: HP:0005225 ! Intestinal edema [Term] id: HP:0004789 name: Lactose intolerance def: "An inability to digest lactose." [HPO:probinson] synonym: "Lactose intolerance" EXACT layperson [] synonym: "Milk intolerance" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D007787 xref: SNOMEDCT_US:267425008 xref: SNOMEDCT_US:700094005 xref: UMLS:C0022951 is_a: HP:0002024 ! Malabsorption [Term] id: HP:0004790 name: Hypoplasia of the small intestine def: "Underdevelopment of the small intestine." [HPO:probinson] synonym: "Underdeveloped small intestine" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4025291 is_a: HP:0002244 ! Abnormality of the small intestine is_a: HP:0005245 ! Intestinal hypoplasia [Term] id: HP:0004791 name: Esophageal ulceration def: "Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus." [HPO:probinson] synonym: "Esophagus ulcer" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Oesophagus ulceration" EXACT [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:30811009 xref: UMLS:C0151970 is_a: HP:0002031 ! Abnormal esophagus morphology [Term] id: HP:0004792 name: Rectoperineal fistula def: "The presence of a fistula between the perineum and the rectum." [HPO:probinson] xref: UMLS:C0240880 is_a: HP:0004871 ! Perineal fistula is_a: HP:0100590 ! Rectal fistula [Term] id: HP:0004794 name: Malrotation of small bowel def: "A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel." [HPO:probinson] comment: Malrotation results not only in the malposition of the bowel but also in the malfixation of the mesentery. The normally broad mesenteric attachment is shortened to a narrow pedicle that predisposes the patient to the complication of midgut volvulus. synonym: "Malrotation of the small intestine" EXACT [] xref: UMLS:C1860244 is_a: HP:0002244 ! Abnormality of the small intestine is_a: HP:0002566 ! Intestinal malrotation [Term] id: HP:0004795 name: Hamartomatous stomach polyps def: "Polyp-like protrusions which are histologically hamartomas located in the stomach." [HPO:probinson] xref: UMLS:C1862304 is_a: HP:0004390 ! Hamartomatous polyposis is_a: HP:0006753 ! Neoplasm of the stomach [Term] id: HP:0004796 name: Gastrointestinal obstruction synonym: "Gastrointestinal obstruction" EXACT layperson [] synonym: "GI obstruction" EXACT HP:0045077 [] synonym: "Obstruction in digestive tract" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:126765001 xref: UMLS:C0236124 is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract [Term] id: HP:0004797 name: Multiple small bowel atresias def: "The presence of multiple areas of atresia affecting the small intestine." [HPO:probinson] xref: UMLS:C1857476 is_a: HP:0011100 ! Intestinal atresia [Term] id: HP:0004798 name: Recurrent infection of the gastrointestinal tract def: "Recurrent infection of the gastrointestinal tract." [HPO:probinson] synonym: "Gastrointestinal infections" RELATED layperson [] synonym: "Gastrointestinal infections, recurrent" RELATED layperson [HPO:skoehler] synonym: "Recurrent gastrointestinal infections" EXACT layperson [] synonym: "Recurrent infection of the gastrointestinal tract" EXACT layperson [] synonym: "Recurrent infection of the GI tract" EXACT HP:0045077 [] xref: SNOMEDCT_US:715852004 xref: UMLS:C1854495 xref: UMLS:C4082764 is_a: HP:0002719 ! Recurrent infections is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract [Term] id: HP:0004799 name: Jejunoileal diverticula xref: UMLS:C4025290 is_a: HP:0002256 ! Small bowel diverticula [Term] id: HP:0004800 name: Duodenal diverticula xref: SNOMEDCT_US:197083003 xref: UMLS:C0341266 is_a: HP:0002256 ! Small bowel diverticula [Term] id: HP:0004802 name: Episodic hemolytic anemia def: "A form of hemolytic anemia that occurs in repeated episodes." [HPO:probinson] synonym: "Episodic hemolysis" EXACT [] xref: UMLS:C1859495 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004804 name: Congenital hemolytic anemia alt_id: HP:0004811 alt_id: HP:0004824 def: "A form of hemolytic anemia with congenital onset." [HPO:probinson] synonym: "Congenital haemolytic anemia" EXACT [] synonym: "Neonatal hemolytic anemia" RELATED [] xref: MSH:D000745 xref: SNOMEDCT_US:38911009 xref: SNOMEDCT_US:42601008 xref: UMLS:C0002881 xref: UMLS:C4020827 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004808 name: Acute myeloid leukemia alt_id: HP:0001914 alt_id: HP:0004843 alt_id: HP:0005516 alt_id: HP:0006724 alt_id: HP:0006728 def: "A form of leukemia characterized by overproduction of an early myeloid cell." [HPO:probinson] synonym: "Acute myeloblastic leukemia" EXACT [] synonym: "Acute myelocytic leukemia" EXACT [] synonym: "Acute myelogenous leukemia" EXACT [] synonym: "AML" EXACT HP:0045077 [] xref: MSH:D015470 xref: SNOMEDCT_US:17788007 xref: SNOMEDCT_US:413443009 xref: SNOMEDCT_US:91861009 xref: UMLS:C0023467 is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0004809 name: Neonatal alloimmune thrombocytopenia def: "Low platelet count associated with maternal platelet-specific alloantibodies." [HPO:probinson] comment: Neonatal alloimmune thrombocytopenia occurs following fetomaternal transfusions leading to generation of alloreactive antiplatelet antibodies. xref: MSH:D054098 xref: SNOMEDCT_US:240305000 xref: UMLS:C3853779 is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0004810 name: Congenital hypoplastic anemia alt_id: HP:0005545 def: "A type of hypoplastic anemia with congenital onset." [HPO:probinson] comment: In this condition, hematopoiesis must have been inadequate in fetal life. Affected infant have marked pallor and reticulocytopenia or absence of red blood cell precursors in an otherwise normally cellular bone marrow. This term does not refer to a particular diagnosis or etiology (or which several are known) but to the phenotypic feature. synonym: "Congenital dyserythropoietic anemia" EXACT [] xref: MSH:D000742 xref: MSH:D029503 xref: SNOMEDCT_US:234371002 xref: SNOMEDCT_US:52951008 xref: SNOMEDCT_US:88854002 xref: UMLS:C0002876 xref: UMLS:C1260899 is_a: HP:0001908 ! Hypoplastic anemia [Term] id: HP:0004812 name: B Acute Lymphoblastic Leukemia def: "A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood." [NCIT:C8644] synonym: "Pre-B-cell acute lymphoblastic leukemia" EXACT [] is_a: HP:0006721 ! Acute lymphoblastic leukemia [Term] id: HP:0004813 name: Post-transfusion thrombocytopenia def: "Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages." [DDD:kfreeson] comment: Post-transfusion thrombocytopenia is thought to be related to platelet-specific alloantibody from prior transfusion/pregnancy. synonym: "Post-transfusion purpura" RELATED [] xref: MSH:C562868 xref: SNOMEDCT_US:73162004 xref: UMLS:C0398648 xref: UMLS:C1868252 is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0004814 name: Fava bean-induced hemolytic anemia def: "A kind of hemolytic anemia that is induced by the ingestion of fava beans." [HPO:probinson] comment: Persons with glucose-6-phosphate dehydrogenase (G6PD) deficiency are susceptible to fava bean-induced hemolytic anemia because of the oxidative stress induced by compunds in Fava beans (thought to be vicine and isouramil). The same underlying defect can make affected persons susceptible to hemolysis induced by a number of mediciations. synonym: "Hemolytic anemia following ingestion of fava beans" EXACT [] xref: UMLS:C4021648 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004817 name: Drug-sensitive hemolytic anemia def: "A form of hemolytic anemia that is triggered by ingestion of certain drugs." [HPO:probinson] xref: UMLS:C4025289 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004818 name: Paroxysmal nocturnal hemoglobinuria synonym: "Paroxysmal nocturnal haemoglobinuria" EXACT [ORCID:0000-0001-5208-3432] xref: MSH:D006457 xref: SNOMEDCT_US:1963002 xref: UMLS:C0024790 is_a: HP:0003641 ! Hemoglobinuria [Term] id: HP:0004819 name: Normocytic hypoplastic anemia def: "A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits)." [HPO:probinson] xref: UMLS:C1835875 is_a: HP:0001908 ! Hypoplastic anemia [Term] id: HP:0004820 name: Acute myelomonocytic leukemia def: "An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors." [NCIT:C7463] xref: MSH:D015479 xref: SNOMEDCT_US:110005000 xref: SNOMEDCT_US:277601005 xref: SNOMEDCT_US:30962008 xref: UMLS:C0023479 is_a: HP:0002488 ! Acute leukemia is_a: HP:0012324 ! Myeloid leukemia [Term] id: HP:0004821 name: Hypersegmentation of neutrophil nuclei def: "An excessive division of the lobes of the nucleus of a neutrophil." [HPO:probinson] comment: Neutrophils usually display 3-4 nuclear lobes. Hypersegmented neutrophile nuclei display 5 or more lobes. This feature can be seen in vitamin B12 or folate deficiency or with other etiologies. synonym: "Hypermature neutrophils" EXACT [] synonym: "Hypersegmentation of neutrophil nuclei in peripheral blood" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-8169-9049] xref: UMLS:C4025288 is_a: HP:0011992 ! Abnormality of neutrophil morphology [Term] id: HP:0004822 name: Atypical elliptocytosis xref: MSH:C565598 xref: UMLS:C1857010 is_a: HP:0004445 ! Elliptocytosis [Term] id: HP:0004823 name: Anisopoikilocytosis def: "A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes." [HPO:probinson] xref: UMLS:C2675920 is_a: HP:0004447 ! Poikilocytosis [Term] id: HP:0004825 name: Increased hemoglobin oxygen affinity def: "An abnormal increase in the binding affinity of hemoglobin for oxygen." [HPO:probinson] synonym: "Increased haemoglobin oxygen affinity" EXACT [] synonym: "Increased Hb O2 affinity" EXACT HP:0045077 [] synonym: "Increased Hb oxygen affinity" EXACT HP:0045077 [] synonym: "Increased hemoglobin O2 affinity" EXACT HP:0045077 [] xref: UMLS:C4021647 is_a: HP:0020054 ! Abnormal erythrocyte physiology [Term] id: HP:0004826 name: Folate-unresponsive megaloblastic anemia def: "A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia." [HPO:probinson] xref: UMLS:C4025287 is_a: HP:0001889 ! Megaloblastic anemia [Term] id: HP:0004828 name: Refractory anemia with ringed sideroblasts def: "A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts." [HPO:probinson] synonym: "Myelodysplasia with sideroblastosis" EXACT [] xref: ICD-O:M9982/3 "Refractory anemia with ringed sideroblasts" xref: SNOMEDCT_US:109998009 xref: SNOMEDCT_US:128846006 xref: UMLS:C1264195 is_a: HP:0012150 ! Single lineage myelodysplasia [Term] id: HP:0004831 name: Recurrent thromboembolism def: "Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream." [HPO:probinson] synonym: "Recurrent thromboembolic disease" RELATED [] xref: UMLS:C0749398 xref: UMLS:C4025286 is_a: HP:0001907 ! Thromboembolism [Term] id: HP:0004835 name: Microspherocytosis def: "The presence of erythrocytes that are sphere-shaped and reduced in size." [HPO:probinson] xref: UMLS:C4025285 is_a: HP:0004444 ! Spherocytosis [Term] id: HP:0004836 name: Acute promyelocytic leukemia def: "A type of acute myeloid leukemia in which abnormal promyelocytes predominate." [HPO:probinson] xref: MSH:D015473 xref: SNOMEDCT_US:110004001 xref: SNOMEDCT_US:28950004 xref: UMLS:C0023487 is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0004839 name: Pyropoikilocytosis alt_id: HP:0004805 def: "A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn." [HPO:probinson, pmid:16304353] synonym: "hereditary pyropoikilocytosis" EXACT [] xref: MSH:C563004 xref: SNOMEDCT_US:9434008 xref: UMLS:C0520739 is_a: HP:0004447 ! Poikilocytosis [Term] id: HP:0004840 name: Hypochromic microcytic anemia alt_id: HP:0004842 def: "A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes." [HPO:probinson] synonym: "Hypochromic, microcytic anemia" EXACT [] xref: MSH:C536357 xref: SNOMEDCT_US:44666001 xref: UMLS:C0271901 is_a: HP:0001931 ! Hypochromic anemia is_a: HP:0001935 ! Microcytic anemia [Term] id: HP:0004841 name: Reduced factor XII activity alt_id: HP:0005514 alt_id: HP:0005551 alt_id: HP:0008286 def: "Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade." [HPO:probinson] synonym: "Factor XII deficiency" EXACT [] synonym: "Hageman factor deficiency" EXACT [] xref: MSH:D005175 xref: SNOMEDCT_US:46981006 xref: UMLS:C0015526 is_a: HP:0010989 ! Abnormality of the intrinsic pathway [Term] id: HP:0004844 name: Coombs-positive hemolytic anemia alt_id: HP:0003539 def: "A type of hemolytic anemia in which the Coombs test is positive." [HPO:probinson] comment: The Coombs test measures a coating of immunoglobulin or complement on the red cell surface. synonym: "Direct Coombs positive" EXACT [] xref: SNOMEDCT_US:74789008 xref: UMLS:C0520736 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004845 name: Acute monocytic leukemia alt_id: HP:0004833 def: "The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation." [PMID:24904835] synonym: "Acute monoblastic leukemia" EXACT [] synonym: "AML-M5" EXACT HP:0045077 [] synonym: "AMoL" EXACT HP:0045077 [] xref: MSH:D007948 xref: SNOMEDCT_US:22331004 xref: SNOMEDCT_US:413441006 xref: UMLS:C0023465 is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0004846 name: Prolonged bleeding after surgery def: "Bleeding that persists longer than the normal time following a surgical procedure." [HPO:probinson] synonym: "Excessive bleeding during surgery" EXACT layperson [] synonym: "Prolonged bleeding after surgery" EXACT layperson [] synonym: "Protracted bleeding after surgery" EXACT layperson [] xref: UMLS:C4021646 is_a: HP:0011890 ! Prolonged bleeding following procedure [Term] id: HP:0004848 name: Ph-positive acute lymphoblastic leukemia def: "A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity." [PMID:21472706] synonym: "Philadelphia-positive acute lymphoblastic leukemia" EXACT [] xref: SNOMEDCT_US:425688002 xref: SNOMEDCT_US:426955004 xref: UMLS:C1960397 is_a: HP:0006721 ! Acute lymphoblastic leukemia [Term] id: HP:0004850 name: Recurrent deep vein thrombosis def: "Repeated episodes of the formation of a blot clot in a deep vein." [HPO:probinson] synonym: "Recurrent deep vein blood clot" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Recurrent venous thrombosis" EXACT [] xref: SNOMEDCT_US:710167004 xref: UMLS:C1735901 is_a: HP:0002625 ! Deep venous thrombosis [Term] id: HP:0004851 name: Folate-responsive megaloblastic anemia def: "A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate." [HPO:probinson] xref: UMLS:C2749656 is_a: HP:0001889 ! Megaloblastic anemia [Term] id: HP:0004852 name: Reduced leukocyte alkaline phosphatase def: "A decreased alkaline phosphatase activity measured within leukocytes." [HPO:probinson] synonym: "Low leukocyte alkaline phosphatase" EXACT [] synonym: "Reduced leukocyte ALP" EXACT HP:0045077 [] xref: UMLS:C1850780 is_a: HP:0003282 ! Low alkaline phosphatase [Term] id: HP:0004854 name: Intermittent thrombocytopenia def: "Reduced platelet count that occurs sporadically, i.e., it comes and goes." [HPO:probinson, pmid:8384898] xref: UMLS:C1839167 is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0004855 name: Reduced protein S activity def: "An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C." [HPO:probinson] comment: Protein S functions as a cofactor to Protein C in the inactivation of Factors Va and VIIIa in the coagulation pathway. Therefore, a defect in protein S is associated with an increased risk of thrombosis. synonym: "Protein S deficiency" NARROW [] xref: MSH:D018455 xref: SNOMEDCT_US:1563006 xref: UMLS:C0242666 xref: UMLS:C4025284 is_a: HP:0030780 ! Abnormality of the protein C anticoagulant pathway [Term] id: HP:0004856 name: Normochromic microcytic anemia def: "A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes." [HPO:probinson] xref: SNOMEDCT_US:4984008 xref: UMLS:C0271902 is_a: HP:0001935 ! Microcytic anemia [Term] id: HP:0004857 name: Hyperchromic macrocytic anemia def: "A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin." [HPO:probinson] xref: UMLS:C3854594 is_a: HP:0001972 ! Macrocytic anemia [Term] id: HP:0004859 name: Amegakaryocytic thrombocytopenia def: "Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes." [HPO:probinson] xref: SNOMEDCT_US:234482009 xref: UMLS:C0398639 is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0004860 name: Thiamine-responsive megaloblastic anemia def: "A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine." [HPO:probinson] xref: SNOMEDCT_US:12907000 xref: UMLS:C0271972 is_a: HP:0001889 ! Megaloblastic anemia [Term] id: HP:0004861 name: Refractory macrocytic anemia xref: UMLS:C2675059 is_a: HP:0001972 ! Macrocytic anemia [Term] id: HP:0004863 name: Compensated hemolytic anemia xref: UMLS:C4025283 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004864 name: Refractory sideroblastic anemia def: "A type of sideroblastic anemia that is not responsive to treatment." [HPO:probinson] xref: MSH:D000756 xref: SNOMEDCT_US:41841004 xref: UMLS:C0002896 is_a: HP:0001924 ! Sideroblastic anemia [Term] id: HP:0004866 name: Impaired ADP-induced platelet aggregation def: "Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP." [HPO:probinson, pmid:11413156] xref: UMLS:C4025282 is_a: HP:0003540 ! Impaired platelet aggregation [Term] id: HP:0004870 name: Chronic hemolytic anemia alt_id: HP:0004815 def: "An chronic form of hemolytic anemia." [HPO:probinson] synonym: "hemolytic anemia, chronic" EXACT [] xref: SNOMEDCT_US:707480001 xref: UMLS:C1387532 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004871 name: Perineal fistula def: "The presence of a fistula between the bowel and the perineum." [HPO:probinson] comment: The perineum is the diamond-shaped region of the body between the pubic arch and the anus. xref: SNOMEDCT_US:284077005 xref: UMLS:C0561921 is_a: HP:0100589 ! Urogenital fistula [Term] id: HP:0004872 name: Incisional hernia def: "An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound." [HPO:probinson] synonym: "Recurrent abdominal hernia" EXACT [] xref: MSH:D000069290 xref: SNOMEDCT_US:236037000 xref: SNOMEDCT_US:241556001 xref: UMLS:C0267716 xref: UMLS:C4021645 is_a: HP:0004299 ! Hernia of the abdominal wall [Term] id: HP:0004875 name: Neonatal inspiratory stridor xref: UMLS:C4025281 is_a: HP:0002643 ! Neonatal respiratory distress is_a: HP:0005348 ! Inspiratory stridor [Term] id: HP:0004876 name: Spontaneous neonatal pneumothorax def: "Pneumothorax occurring neonatally without traumatic injury to the chest or lung." [HPO:probinson] synonym: "Neonatal pneumothorax" EXACT [] xref: UMLS:C1857021 is_a: HP:0002108 ! Spontaneous pneumothorax [Term] id: HP:0004878 name: Intercostal muscle weakness def: "Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall." [HPO:probinson] synonym: "Muscle weakness between ribs" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C0240017 is_a: HP:0000765 ! Abnormality of the thorax is_a: HP:0001324 ! Muscle weakness is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0004879 name: Intermittent hyperventilation def: "Episodic hyperventilation." [HPO:probinson] synonym: "Episodic hyperventilation" EXACT [] synonym: "Intermittent overbreathing" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:423427003 xref: UMLS:C1828017 is_a: HP:0002883 ! Hyperventilation [Term] id: HP:0004880 name: Respiratory infections in early life def: "Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections." [] xref: UMLS:C4025280 is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0004881 name: Episodic hypoventilation synonym: "Episodic slow breathing" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Episodic under breathing" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1844946 is_a: HP:0002791 ! Hypoventilation [Term] id: HP:0004885 name: Episodic respiratory distress synonym: "Episodic difficulty breathing" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "respiratory distress, episodic" EXACT [] xref: UMLS:C1844945 is_a: HP:0002098 ! Respiratory distress [Term] id: HP:0004886 name: Congenital laryngeal stridor xref: SNOMEDCT_US:55490007 xref: UMLS:C0265763 is_a: HP:0005348 ! Inspiratory stridor [Term] id: HP:0004887 name: Respiratory failure requiring assisted ventilation alt_id: HP:0004883 def: "A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation." [ORCID:0000-0002-7440-8864, PMID:18710593, PMID:28620428] synonym: "Respiratory distress necessitating mechanical ventilation" EXACT [] synonym: "Respiratory distress requiring endotracheal intubation" EXACT [] synonym: "Respiratory distress requiring mechanical ventilation" EXACT [] xref: UMLS:C4025279 is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0004889 name: Intermittent episodes of respiratory insufficiency due to muscle weakness xref: UMLS:C3807025 is_a: HP:0002747 ! Respiratory insufficiency due to muscle weakness [Term] id: HP:0004890 name: Elevated pulmonary artery pressure alt_id: HP:0004958 def: "An abnormally elevated blood pressure in the circulation of the pulmonary artery." [HPO:probinson] synonym: "Elevated lung artery pressure" EXACT [] synonym: "increased pulmonary artery pressure" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3805917 is_a: HP:0030875 ! Abnormality of pulmonary circulation [Term] id: HP:0004891 name: Recurrent infections due to aspiration def: "Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration." [] xref: UMLS:C3806285 is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0004894 name: Laryngotracheal stenosis xref: UMLS:C3806280 is_a: HP:0001602 ! Laryngeal stenosis is_a: HP:0002777 ! Tracheal stenosis [Term] id: HP:0004897 name: Stress/infection-induced lactic acidosis def: "A form of lactic acidemia that occurs in relation to stress or infection." [HPO:probinson] xref: UMLS:C4025278 is_a: HP:0003128 ! Lactic acidosis [Term] id: HP:0004898 name: Persistent lactic acidosis def: "A continuous form of lactic acidemia." [HPO:probinson] xref: UMLS:C3554538 is_a: HP:0003128 ! Lactic acidosis [Term] id: HP:0004900 name: Severe lactic acidosis def: "A severe form of lactic acidemia." [HPO:probinson] xref: UMLS:C1839436 is_a: HP:0003128 ! Lactic acidosis [Term] id: HP:0004901 name: Exercise-induced lactic acidemia def: "A form of lactic acidemia that occurs following exercise or exertion." [HPO:probinson, pmid:15308499] synonym: "Exercise-induced lactic acidosis" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4025277 is_a: HP:0003128 ! Lactic acidosis [Term] id: HP:0004902 name: Congenital lactic acidosis def: "A form of lactic acidemia with congenital onset." [HPO:probinson] xref: UMLS:C4025276 is_a: HP:0003128 ! Lactic acidosis [Term] id: HP:0004904 name: Maturity-onset diabetes of the young def: "The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistence, and lack of evidence of autoimmune destruction of the beta cells." [HPO:probinson] synonym: "Maturity onset diabetes of the young" EXACT [] synonym: "MODY" RELATED HP:0045077 [HPO:skoehler] xref: MSH:C562772 xref: SNOMEDCT_US:609561005 xref: UMLS:C0342276 is_a: HP:0000819 ! Diabetes mellitus [Term] id: HP:0004905 name: Low levels of vitamin A def: "A reduced concentration of vitamin A." [] synonym: "Vitamin A deficiency" EXACT layperson [] xref: MSH:D014802 xref: SNOMEDCT_US:72000004 xref: UMLS:C0042842 is_a: HP:0008372 ! Abnormality of vitamin A metabolism [Term] id: HP:0004906 name: Hypernatremic dehydration xref: SNOMEDCT_US:427784006 xref: UMLS:C1850544 is_a: HP:0001986 ! Hypertonic dehydration [Term] id: HP:0004909 name: Hypokalemic hypochloremic metabolic alkalosis xref: UMLS:C0740896 is_a: HP:0001960 ! Hypokalemic metabolic alkalosis is_a: HP:0005977 ! Hypochloremic metabolic alkalosis [Term] id: HP:0004910 name: Bicarbonate-wasting renal tubular acidosis synonym: "HCO3-wasting renal tubular acidosis" EXACT HP:0045077 [] synonym: "Renal bicarbonate wasting" EXACT [] xref: UMLS:C1858626 is_a: HP:0001947 ! Renal tubular acidosis [Term] id: HP:0004911 name: Episodic metabolic acidosis alt_id: HP:0005963 def: "Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids." [HPO:probinson] synonym: "Recurrent episodes of acidosis" EXACT [] xref: UMLS:C1859516 is_a: HP:0001942 ! Metabolic acidosis [Term] id: HP:0004912 name: Hypophosphatemic rickets xref: MSH:D063730 xref: SNOMEDCT_US:66266003 xref: UMLS:C1704375 is_a: HP:0002148 ! Hypophosphatemia is_a: HP:0002748 ! Rickets [Term] id: HP:0004913 name: Intermittent lactic acidemia def: "An intermittent (discontinuous) form of lactic acidemia." [HPO:probinson] xref: UMLS:C1844917 is_a: HP:0003128 ! Lactic acidosis [Term] id: HP:0004914 name: Recurrent infantile hypoglycemia alt_id: HP:0004917 def: "Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period." [HPO:probinson] synonym: "Episodic infantile hypoglycemia" EXACT [] synonym: "Recurrent low blood sugar in infant" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4021644 is_a: HP:0001988 ! Recurrent hypoglycemia [Term] id: HP:0004915 name: Impairment of galactose metabolism def: "An impairment of galactose metabolism." [HPO:probinson] synonym: "Impaired galactose metabolism" EXACT [HPO:skoehler] xref: UMLS:C4021643 is_a: HP:0032245 ! Abnormal metabolism [Term] id: HP:0004916 name: Generalized distal tubular acidosis xref: UMLS:C4025275 is_a: HP:0008341 ! Distal renal tubular acidosis [Term] id: HP:0004918 name: Hyperchloremic metabolic acidosis xref: UMLS:C1969073 is_a: HP:0001995 ! Hyperchloremic acidosis [Term] id: HP:0004919 name: Galactose intolerance xref: MSH:D005693 xref: SNOMEDCT_US:190745006 xref: SNOMEDCT_US:190749000 xref: UMLS:C0016952 is_a: HP:0004915 ! Impairment of galactose metabolism [Term] id: HP:0004920 name: Phenylpyruvic acidemia xref: UMLS:C1849926 is_a: HP:0032368 ! Acidemia [Term] id: HP:0004921 name: Abnormal magnesium concentration alt_id: HP:0008274 def: "An abnormality of magnesium ion homeostasis." [HPO:probinson] synonym: "Abnormal magnesium metabolism" RELATED [] synonym: "Abnormal Mg concentration" EXACT HP:0045077 [] synonym: "Abnormality of magnesium homeostasis" EXACT [] xref: UMLS:C4020826 xref: UMLS:C4025274 is_a: HP:0010927 ! Abnormal blood inorganic cation concentration [Term] id: HP:0004922 name: Atypical hyperphenylalaninemia xref: UMLS:C4025273 is_a: HP:0010893 ! Abnormal circulating phenylalanine concentration [Term] id: HP:0004923 name: Hyperphenylalaninemia def: "An increased concentration of L-phenylalanine in the blood." [HPO:probinson] xref: MSH:D010661 xref: SNOMEDCT_US:68528007 xref: UMLS:C0751435 is_a: HP:0010893 ! Abnormal circulating phenylalanine concentration [Term] id: HP:0004924 name: Abnormal oral glucose tolerance def: "An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose." [HPO:probinson] synonym: "Abnormal glucose oral tolerance test" EXACT [] xref: UMLS:C1847425 is_a: HP:0040270 ! Impaired glucose tolerance [Term] id: HP:0004925 name: Chronic lactic acidosis alt_id: HP:0004899 def: "A chronic form of lactic acidemia." [HPO:probinson] xref: UMLS:C1839437 is_a: HP:0003128 ! Lactic acidosis is_a: HP:0012468 ! Chronic acidosis [Term] id: HP:0004926 name: Orthostatic hypotension due to autonomic dysfunction xref: UMLS:C1868528 is_a: HP:0001278 ! Orthostatic hypotension [Term] id: HP:0004927 name: Pulmonary artery dilatation def: "An abnormal widening of the diameter of the pulmonary artery." [HPO:probinson] xref: SNOMEDCT_US:251047005 xref: UMLS:C0428851 is_a: HP:0030966 ! Abnormal pulmonary artery morphology [Term] id: HP:0004928 name: obsolete Peripheral arterial stenosis is_obsolete: true replaced_by: HP:0004950 [Term] id: HP:0004929 name: obsolete Coronary atherosclerosis is_obsolete: true replaced_by: HP:0001677 [Term] id: HP:0004930 name: Abnormality of the pulmonary vasculature synonym: "Abnormality of the lung blood vessels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025271 is_a: HP:0002088 ! Abnormal lung morphology is_a: HP:0002597 ! Abnormality of the vasculature created_by: peter creation_date: 2008-03-26T04:07:00Z [Term] id: HP:0004931 name: Arteriosclerosis of small cerebral arteries def: "Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain." [HPO:probinson] synonym: "Hardened artery wall in small cerebral arteries" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025270 xref: UMLS:C4280505 is_a: HP:0002634 ! Arteriosclerosis is_a: HP:0009145 ! Abnormal cerebral artery morphology [Term] id: HP:0004933 name: Ascending aortic dissection def: "A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space." [HPO:probinson] comment: According to the Stanford classification, type A aortic dissection affects the ascending aorta and arch. synonym: "Type A aortic dissection" EXACT [] xref: UMLS:C1836653 is_a: HP:0002647 ! Aortic dissection is_a: HP:0031784 ! Abnormal ascending aorta morphology [Term] id: HP:0004934 name: Vascular calcification def: "Abnormal calcification of the vasculature." [HPO:probinson] xref: MSH:D061205 xref: SNOMEDCT_US:237897009 xref: UMLS:C0342649 is_a: HP:0011915 ! Cardiovascular calcification is_a: HP:0025015 ! Abnormal vascular morphology [Term] id: HP:0004935 name: Pulmonary artery atresia def: "A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery." [HPO:probinson] comment: Pulmonary artery atresia means that unoxygenated blood in the right ventricle can not be effectively pumped into the lung for oxygenation. synonym: "Pulmonary atresia" EXACT [] xref: SNOMEDCT_US:10930001 xref: SNOMEDCT_US:204443008 xref: UMLS:C0265908 is_a: HP:0030966 ! Abnormal pulmonary artery morphology [Term] id: HP:0004936 name: Venous thrombosis def: "Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow." [HPO:probinson] synonym: "Blood clot in vein" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D020246 xref: SNOMEDCT_US:111293003 xref: UMLS:C0042487 is_a: HP:0001977 ! Abnormal thrombosis [Term] id: HP:0004937 name: Pulmonary artery aneurysm def: "An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery." [HPO:probinson] xref: SNOMEDCT_US:194892009 xref: UMLS:C0155676 is_a: HP:0004927 ! Pulmonary artery dilatation [Term] id: HP:0004938 name: Tortuous cerebral arteries def: "Excessive bending, twisting, and winding of a cerebral artery." [HPO:probinson] synonym: "Twisted cerebral arteries" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1836791 is_a: HP:0005116 ! Arterial tortuosity is_a: HP:0009145 ! Abnormal cerebral artery morphology [Term] id: HP:0004940 name: Generalized arterial calcification alt_id: HP:0004967 def: "Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body." [HPO:probinson] xref: UMLS:C4025269 is_a: HP:0003207 ! Arterial calcification [Term] id: HP:0004941 name: Extrahepatic portal hypertension def: "Increased pressure in the pre-hepatic portal vein." [HPO:probinson] comment: Hypertension in the portal venous tree proper. xref: UMLS:C4025268 is_a: HP:0001409 ! Portal hypertension property_value: editor_notes "previous def: 'has part' some \n('increased pressure' and ('inheres in' some \n('arterial blood' and ('part of' some 'Pre-hepatic portal vein (adult human)'))) and ('has modifier' some abnormal))" xsd:string [Term] id: HP:0004942 name: Aortic aneurysm alt_id: HP:0001724 def: "Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter." [] comment: Aneurysm is considered a severe (pathological) form of dilatation of a segment of a blood vessel. In clinical practice, dilatation and aneurysm are occasionally used interchangably. In this subhierarchy, we therefore use aneurysm as the primary label and list dilatation as a broad synonym. synonym: "Aortic dilatation" EXACT [] synonym: "Bulge in wall of large artery that carries blood away from heart" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: Fyler:2301 xref: Fyler:2708 xref: MSH:D001014 xref: SNOMEDCT_US:67362008 xref: UMLS:C0003486 is_a: HP:0001679 ! Abnormal aortic morphology is_a: HP:0002617 ! Dilatation [Term] id: HP:0004943 name: Accelerated atherosclerosis def: "Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors." [PMID:29040156] synonym: "Accelerated plaque build-up in arteries" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1849618 xref: UMLS:C4280504 is_a: HP:0002621 ! Atherosclerosis [Term] id: HP:0004944 name: Dilatation of the cerebral artery alt_id: HP:0002618 alt_id: HP:0006816 def: "The presence of a localized dilatation or ballooning of a cerebral artery." [HPO:probinson] comment: Aneurysm is considered a severe form of dilatation. synonym: "Brain aneurysm" BROAD layperson [ORCID:0000-0001-6908-9849] synonym: "Cerebral aneurysm" NARROW [] synonym: "Cerebral artery aneurysm" NARROW [] synonym: "Intracranial aneurysm" BROAD [] xref: MSH:D002532 xref: SNOMEDCT_US:128608001 xref: UMLS:C0751003 xref: UMLS:C1290398 is_a: HP:0002617 ! Dilatation is_a: HP:0009145 ! Abnormal cerebral artery morphology [Term] id: HP:0004945 name: Extracranial internal carotid artery dissection def: "A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall." [HPO:probinson] xref: UMLS:C4025267 is_a: HP:0005294 ! Arterial dissection is_a: HP:0012159 ! Internal carotid artery dissection [Term] id: HP:0004947 name: Arteriovenous fistula alt_id: HP:0004946 def: "An abnormal connection between an artery and vein." [https://www.mayoclinic.org/diseases-conditions/arteriovenous-fistula/symptoms-causes/syc-20369567] synonym: "Arteriovenous fistulas" EXACT [] xref: MSH:D001164 xref: SNOMEDCT_US:128617001 xref: SNOMEDCT_US:439470001 xref: UMLS:C0003855 is_a: HP:0100026 ! Arteriovenous malformation [Term] id: HP:0004948 name: Vascular tortuosity def: "Abnormal twisting of arteries or veins." [PMID:22433458] synonym: "Twisted blood vessels" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C2673776 is_a: HP:0025015 ! Abnormal vascular morphology [Term] id: HP:0004950 name: Peripheral arterial stenosis alt_id: HP:0004928 alt_id: HP:0004973 alt_id: HP:0005296 alt_id: HP:0005299 alt_id: HP:0005309 alt_id: HP:0005315 alt_id: HP:0005794 def: "Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication." [] comment: The ankle-brachial index (ABI; the ratio of systolic blood pressure in the ankle to that in the arm), is a measure of occlusion of peripheral arteries in the leg. Peripheral arterial stenosis may be observed with atherosclerosis and with increased intima media thickness as seen in diseases such as pseudoxanthoma elasticum. The most common cause of peripheral arterial stenosis in patients over 40 years of age is atherosclerosis. Cerebral and coronary arteries are by definition not included in peripheral artery disease. synonym: "Arterial disease of legs" RELATED [] synonym: "Occlusive arterial disease" RELATED [] synonym: "Occlusive vascular disease" RELATED [] synonym: "Peripheral artery disease" EXACT [ORCID:0000-0001-6908-9849] synonym: "Peripheral artery occlusive disease" RELATED [] synonym: "Peripheral vascular disease" RELATED [HPO:probinson] xref: MSH:D016491 xref: MSH:D058729 xref: SNOMEDCT_US:399957001 xref: SNOMEDCT_US:400047006 xref: UMLS:C0085096 xref: UMLS:C1704436 is_a: HP:0100545 ! Arterial stenosis [Term] id: HP:0004952 name: Pulmonary arteriovenous fistulas def: "A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed." [PMID:27122941] xref: MSH:C562404 xref: SNOMEDCT_US:111289009 xref: UMLS:C0155675 is_a: HP:0004947 ! Arteriovenous fistula [Term] id: HP:0004953 name: obsolete Dilatation of abdominal aorta is_obsolete: true replaced_by: HP:0005112 [Term] id: HP:0004954 name: obsolete Dilatation of the descending aorta is_obsolete: true replaced_by: HP:0004959 [Term] id: HP:0004955 name: Generalized arterial tortuosity def: "Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries." [HPO:probinson] synonym: "Arterial tortuosity, general" RELATED [HPO:skoehler] synonym: "Arterial tortuosity, generalized" RELATED [HPO:skoehler] synonym: "Generalized twisted arteries" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1836651 xref: UMLS:C3279191 is_a: HP:0005116 ! Arterial tortuosity [Term] id: HP:0004959 name: Descending thoracic aorta aneurysm alt_id: HP:0004954 def: "An abnormal localized widening (dilatation) of the descending thoracic aorta." [] synonym: "Dilatation of the descending thoracic aorta" BROAD [] xref: Fyler:2754 xref: UMLS:C4025266 is_a: HP:0012727 ! Thoracic aortic aneurysm created_by: peter creation_date: 2008-03-25T06:32:00Z [Term] id: HP:0004960 name: Absent pulmonary artery def: "A congenital defect with aplasia (absence) of one of the right or left pulmonary artery." [HPO:probinson, pmid:17192541] comment: This is a rare feature that has been observed in recessive lethal osteogenesis imperfecta with mutation in CRTAP. synonym: "Absent lung artery" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Missing pulmonary artery" EXACT [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:86252004 xref: UMLS:C0265905 is_a: HP:0030966 ! Abnormal pulmonary artery morphology [Term] id: HP:0004961 name: Pulmonary artery sling def: "An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum." [DDD:dbrown, pmid:16549603, pmid:18458183] xref: UMLS:C1856123 is_a: HP:0030966 ! Abnormal pulmonary artery morphology [Term] id: HP:0004962 name: Thoracic aorta calcification def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta." [HPO:probinson] xref: UMLS:C1969292 is_a: HP:0004963 ! Calcification of the aorta [Term] id: HP:0004963 name: Calcification of the aorta def: "Calcification, that is, pathological deposition of calcium salts in the aorta." [HPO:probinson] comment: Note that the phrase "aortic calcification" is mainly used to describe calcification of the aortic valve rather than of the aorta itself. xref: UMLS:C1096249 is_a: HP:0001679 ! Abnormal aortic morphology is_a: HP:0003207 ! Arterial calcification [Term] id: HP:0004964 name: Pulmonary arterial medial hypertrophy alt_id: HP:0004939 def: "Increase in mass of the tunica media of the arteries in the pulmonary circulation." [HPO:probinson] synonym: "Hypertrophy of the pulmonary artery wall" EXACT [] xref: UMLS:C1504382 is_a: HP:0030966 ! Abnormal pulmonary artery morphology [Term] id: HP:0004966 name: Medial calcification of large arteries def: "Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries." [HPO:probinson] xref: UMLS:C4025265 is_a: HP:0012456 ! Medial arterial calcification [Term] id: HP:0004968 name: Recurrent cerebral hemorrhage def: "Recurrent bleeding into the parenchyma of the brain." [DDD:dbrown] synonym: "Recurrent hemorrhagic stroke" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4025264 is_a: HP:0001342 ! Cerebral hemorrhage [Term] id: HP:0004969 name: Peripheral pulmonary artery stenosis alt_id: HP:0004957 def: "Stenosis of a peripheral branch of the pulmonary artery." [HPO:probinson] synonym: "Narrowing of peripheral lung artery" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "peripheral pulmonary stenosis" EXACT [] synonym: "Peripheral pulmonic stenosis" EXACT [] xref: SNOMEDCT_US:253631001 xref: UMLS:C0345030 is_a: HP:0004415 ! Pulmonary artery stenosis [Term] id: HP:0004970 name: Ascending tubular aorta aneurysm alt_id: HP:0005111 alt_id: HP:0005128 def: "An abnormal localized widening (dilatation) of the tubular part of the ascending aorta." [] comment: Aneurysm is considered a severe form of dilatation. synonym: "Aneurysm of the ascending tubular aorta" EXACT [] synonym: "Ascending aorta dilation" BROAD [] synonym: "Ascending aortic aneurysm" EXACT [] synonym: "Ascending aortic dilation" EXACT [] synonym: "Bulging of wall of large artery located above heart" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Dilatation of ascending aorta" EXACT [] xref: Fyler:2310 xref: Fyler:2701 xref: SNOMEDCT_US:253645007 xref: UMLS:C0345049 is_a: HP:0012727 ! Thoracic aortic aneurysm [Term] id: HP:0004971 name: Pulmonary artery hypoplasia def: "Underdevelopment of the pulmonary artery." [HPO:probinson] synonym: "Underdeveloped lung artery" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Underdeveloped pulmonary artery" EXACT [ORCID:0000-0001-6908-9849] xref: Fyler:2966 xref: SNOMEDCT_US:54682008 xref: UMLS:C0265910 is_a: HP:0030966 ! Abnormal pulmonary artery morphology [Term] id: HP:0004972 name: Elevated mean arterial pressure def: "An abnormal increase in the average blood pressure in an individual during a single cardiac cycle." [PMID:18451345] xref: UMLS:C1840376 is_a: HP:0032263 ! Increased blood pressure [Term] id: HP:0004974 name: Coarctation of abdominal aorta def: "Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta." [HPO:probinson] xref: UMLS:C4025263 is_a: HP:0001680 ! Coarctation of aorta [Term] id: HP:0004975 name: Erlenmeyer flask deformity of the femurs alt_id: HP:0006422 def: "Flaring of distal femur." [HPO:probinson] synonym: "Erlenmeyer flask deformity of distal femur" EXACT [] synonym: "Erlenmeyer flask femora" EXACT [] synonym: "Erlenmeyer flask shaped thighbone" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1855895 is_a: HP:0002823 ! Abnormality of femur morphology [Term] id: HP:0004976 name: Knee dislocation alt_id: HP:0006469 synonym: "Dislocations of the knees" EXACT [] synonym: "Knee dislocations" EXACT [] xref: MSH:D031221 xref: SNOMEDCT_US:58320001 xref: UMLS:C0159970 is_a: HP:0002815 ! Abnormality of the knee is_a: HP:0030311 ! Lower extremity joint dislocation [Term] id: HP:0004977 name: Bilateral radial aplasia alt_id: HP:0005870 def: "Missing radius bone on both sides associated with congenital failure of development." [HPO:probinson] synonym: "Bilateral absence of radius" EXACT [] xref: UMLS:C1848840 is_a: HP:0003974 ! Absent radius [Term] id: HP:0004979 name: Metaphyseal sclerosis def: "Abnormally increased density of metaphyseal bone." [HPO:probinson] synonym: "Increased bone density in wide portion of long bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerotic metaphyses" EXACT [] xref: UMLS:C3552526 is_a: HP:0000944 ! Abnormality of the metaphysis [Term] id: HP:0004980 name: Metaphyseal rarefaction def: "Reduction in density of metaphyseal bony tissue." [HPO:probinson] synonym: "Rarefaction of the metaphyses" EXACT [] xref: UMLS:C1832146 is_a: HP:0000944 ! Abnormality of the metaphysis [Term] id: HP:0004981 name: Prominent styloid process of ulna xref: UMLS:C4025262 is_a: HP:0004035 ! Abnormality of the styloid process of ulna [Term] id: HP:0004986 name: obsolete Rudimentary to absent fibulae is_obsolete: true replaced_by: HP:0006381 [Term] id: HP:0004987 name: Mesomelic leg shortening def: "Shortening of the middle parts of the leg in relation to the upper and terminal segments." [HPO:sdoelken] synonym: "Mesomelia of the lower limbs" EXACT [] synonym: "Mesomelic lower limb shortening" EXACT [] xref: UMLS:C1969178 is_a: HP:0003027 ! Mesomelia [Term] id: HP:0004990 name: Epiphyseal streaking xref: UMLS:C1858039 is_a: HP:0005930 ! Abnormality of epiphysis morphology [Term] id: HP:0004991 name: Rhizomelic arm shortening def: "Disproportionate shortening of the proximal segment of the arm (i.e. the humerus)." [HPO:probinson] xref: UMLS:C1969532 is_a: HP:0008905 ! Rhizomelia [Term] id: HP:0004993 name: Slender long bones with narrow diaphyses def: "Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones." [HPO:probinson] synonym: "Slender long bones with narrow shaft" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C2675547 is_a: HP:0000940 ! Abnormal diaphysis morphology is_a: HP:0003100 ! Slender long bone [Term] id: HP:0004997 name: Multicentric ossification of proximal humeral epiphyses xref: UMLS:C1857192 is_a: HP:0003897 ! Irregular ossification of the humeral epiphyses [Term] id: HP:0005001 name: Recurrent patellar dislocation def: "Patellar dislocation occurring repeated times." [HPO:curators] synonym: "Recurrent dislocation of patellas" EXACT [] xref: SNOMEDCT_US:202246002 xref: UMLS:C0409412 is_a: HP:0002999 ! Patellar dislocation is_a: HP:0031869 ! Recurrent joint dislocation [Term] id: HP:0005003 name: Aplasia/Hypoplasia of the capital femoral epiphysis def: "Absence or underdevelopment of the proximal epiphysis of the femur." [HPO:probinson] synonym: "Absent/small end part of innermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped end part of innermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025261 is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head is_a: HP:0010577 ! Absent epiphyses [Term] id: HP:0005004 name: Flattened proximal radial epiphyses def: "An abnormally flat form of the proximal epiphysis of the radius." [HPO:curators] xref: UMLS:C1849065 is_a: HP:0004002 ! Flattened radial epiphyses is_a: HP:0010597 ! Abnormality of the distal radial epiphysis [Term] id: HP:0005005 name: Femoral bowing present at birth, straightening with time def: "Congenital onset bending or abnormal curvature of the femur that normalizes with age." [HPO:probinson] comment: This feature can be diagnosed based on the medical history of congenital femoral bowing with spontaneous improvement. synonym: "Bowing of thighbone at birth, straightening with time" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1833754 is_a: HP:0002980 ! Femoral bowing [Term] id: HP:0005008 name: Large joint dislocations synonym: "Large joint dislocations" EXACT layperson [] xref: UMLS:C4025260 is_a: HP:0001373 ! Joint dislocation [Term] id: HP:0005009 name: Dumbbell-shaped humerus def: "The humerus is shortened and displays flaring (widening) of the metaphyses." [HPO:probinson] synonym: "Dumbbell-shaped long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025259 is_a: HP:0000947 ! Dumbbell-shaped long bone [Term] id: HP:0005010 name: Osteomyelitis leading to amputation due to slow healing fractures xref: UMLS:C1864975 is_a: HP:0002754 ! Osteomyelitis [Term] id: HP:0005011 name: Mesomelic arm shortening alt_id: HP:0005024 alt_id: HP:0006455 def: "Shortening of the middle parts of the arm in relation to the upper and terminal segments." [HPO:sdoelken] synonym: "Mesomelia of the upper limbs" EXACT [] synonym: "Upper limb brachymesomelia" EXACT [] xref: UMLS:C1862087 is_a: HP:0003027 ! Mesomelia [Term] id: HP:0005013 name: Dysplastic distal radial epiphyses def: "Abnormally developed (dysplastic) distal epiphysis of the radius." [HPO:curators] xref: UMLS:C1862131 is_a: HP:0010597 ! Abnormality of the distal radial epiphysis [Term] id: HP:0005017 name: Polyarticular chondrocalcinosis xref: UMLS:C4025258 is_a: HP:0000934 ! Chondrocalcinosis [Term] id: HP:0005019 name: Diaphyseal thickening synonym: "Thickening of shaft or central part of long bones" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1835473 is_a: HP:0000940 ! Abnormal diaphysis morphology [Term] id: HP:0005021 name: Bilateral elbow dislocations synonym: "Dislocated elbows on both sides" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3278429 is_a: HP:0003042 ! Elbow dislocation [Term] id: HP:0005025 name: Hypoplastic distal humeri def: "Underdevelopment of the distal portion of the humerus." [HPO:probinson] xref: UMLS:C1968607 is_a: HP:0006507 ! Aplasia/hypoplasia of the humerus [Term] id: HP:0005026 name: Mesomelic/rhizomelic limb shortening xref: UMLS:C1866239 is_a: HP:0008905 ! Rhizomelia [Term] id: HP:0005028 name: Widened proximal tibial metaphyses synonym: "Wide innermost wide portion of shankbone bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide innermost wide portion of shinbone bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1836187 is_a: HP:0003016 ! Metaphyseal widening [Term] id: HP:0005033 name: Distal ulnar hypoplasia alt_id: HP:0006474 def: "Underdevelopment of the distal portion of the ulna." [HPO:probinson] synonym: "Distal shortening of ulna" EXACT [] synonym: "Hypoplastic distal ulna" EXACT [] xref: UMLS:C1833145 is_a: HP:0003022 ! Hypoplasia of the ulna [Term] id: HP:0005035 name: Shortening of all phalanges of the toes def: "Developmental hypoplasia (shortening) of all phalanges of the foot." [HPO:probinson] synonym: "Short toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025257 is_a: HP:0001831 ! Short toe is_a: HP:0010161 ! Abnormality of the phalanges of the toes [Term] id: HP:0005036 name: Unilateral ulnar hypoplasia def: "Underdevelopment of the ulna on only one side." [HPO:probinson] xref: UMLS:C1837832 is_a: HP:0003022 ! Hypoplasia of the ulna [Term] id: HP:0005037 name: Proximal radio-ulnar synostosis def: "An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna." [HPO:curators] xref: UMLS:C2676443 is_a: HP:0002974 ! Radioulnar synostosis [Term] id: HP:0005039 name: Multiple long-bone exostoses def: "Multiple exostoses originating in long bones." [HPO:probinson] synonym: "Multiple exostoses of long tubular bones" EXACT [] xref: UMLS:C1835583 is_a: HP:0002762 ! Multiple exostoses [Term] id: HP:0005041 name: Irregular capital femoral epiphysis alt_id: HP:0008806 def: "Irregular surface of the normally relatively smooth capital femoral epiphysis." [HPO:probinson] synonym: "Irregular capital femoral epiphyses" RELATED [] synonym: "Irregular end part of innermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Irregular proximal femoral epiphyses" EXACT [] xref: UMLS:C4020825 is_a: HP:0006361 ! Irregular femoral epiphysis is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head [Term] id: HP:0005042 name: Irregular, rachitic-like metaphyses xref: UMLS:C1866700 is_a: HP:0003025 ! Metaphyseal irregularity [Term] id: HP:0005043 name: Proximal humeral metaphyseal irregularity def: "Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder)." [HPO:probinson] synonym: "Irregular proximal humeral metaphyses" EXACT [] xref: UMLS:C1865128 is_a: HP:0003913 ! Humeral metaphyseal irregularity [Term] id: HP:0005045 name: Diaphyseal cortical sclerosis def: "An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] xref: UMLS:C1833739 is_a: HP:0003034 ! Diaphyseal sclerosis [Term] id: HP:0005048 name: Synostosis of carpal bones synonym: "Fusion of carpal bones" EXACT [] synonym: "Fusion of wrist bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1836193 is_a: HP:0009702 ! Carpal synostosis [Term] id: HP:0005050 name: Anterolateral radial head dislocation def: "A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction." [HPO:probinson] synonym: "Anterior/lateral radial head dislocation" EXACT [] xref: UMLS:C1968610 is_a: HP:0003083 ! Dislocated radial head [Term] id: HP:0005054 name: Metaphyseal spurs alt_id: HP:0005088 def: "Bony outgrowths that extend laterally from the margin of the metaphysis." [HPO:probinson] xref: UMLS:C1832988 is_a: HP:0000944 ! Abnormality of the metaphysis [Term] id: HP:0005059 name: Arthralgia/arthritis synonym: "Joint pain/Joint inflammation" EXACT layperson [] xref: UMLS:C4025256 is_a: HP:0001369 ! Arthritis is_a: HP:0002829 ! Arthralgia [Term] id: HP:0005060 name: Limited elbow flexion/extension xref: UMLS:C1968605 is_a: HP:0001377 ! Limited elbow extension is_a: HP:0006376 ! Limited elbow flexion [Term] id: HP:0005063 name: Fragmented, irregular epiphyses synonym: "Fragmented, irregular end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1867494 is_a: HP:0010582 ! Irregular epiphyses is_a: HP:0100168 ! Fragmented epiphyses [Term] id: HP:0005066 name: Cone-shaped epiphyses fused within their metaphyses synonym: "Cone-shaped end part of long bone fused within their wide portion of wide bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025255 is_a: HP:0010579 ! Cone-shaped epiphysis [Term] id: HP:0005067 name: Proximal fibular overgrowth def: "Overgrowth of the proximal part of the fibula." [HPO:curators] synonym: "Overgrowth of innermost part of calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C2673395 is_a: HP:0003099 ! Fibular overgrowth [Term] id: HP:0005068 name: Absent styloid process of ulna xref: UMLS:C4025254 is_a: HP:0004035 ! Abnormality of the styloid process of ulna [Term] id: HP:0005069 name: Rhizo-meso-acromelic limb shortening xref: UMLS:C2673654 is_a: HP:0008905 ! Rhizomelia [Term] id: HP:0005070 name: Proximal radial head dislocation def: "A dislocation of the head of the radius from its socket in the elbow joint in an proximal direction." [HPO:probinson] xref: UMLS:C1865570 is_a: HP:0003083 ! Dislocated radial head [Term] id: HP:0005072 name: Hyperextensibility at wrists def: "The ability of the wrist joints to move beyond their normal range of motion." [HPO:curators] synonym: "Increased laxity of wrists" EXACT [] synonym: "Increased wrist mobility" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1850853 is_a: HP:0001382 ! Joint hypermobility [Term] id: HP:0005084 name: Anterior radial head dislocation def: "A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction." [HPO:probinson] synonym: "Anterior dislocation of radial head" EXACT [] xref: UMLS:C2674451 is_a: HP:0003083 ! Dislocated radial head [Term] id: HP:0005085 name: Limited knee flexion/extension def: "A limited ability of the knee joint extension and flexion." [HPO:curators] xref: UMLS:C1968606 is_a: HP:0003066 ! Limited knee extension is_a: HP:0006389 ! Limited knee flexion [Term] id: HP:0005086 name: Knee osteoarthritis xref: MSH:D020370 xref: SNOMEDCT_US:239873007 xref: UMLS:C0409959 is_a: HP:0002758 ! Osteoarthritis is_a: HP:0002815 ! Abnormality of the knee [Term] id: HP:0005089 name: Abnormal metaphyseal trabeculation alt_id: HP:0006360 def: "An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone." [HPO:probinson] xref: UMLS:C1857139 is_a: HP:0000944 ! Abnormality of the metaphysis [Term] id: HP:0005090 name: Lateral femoral bowing alt_id: HP:0005022 def: "A lateral bending or abnormal curvature of the femur." [HPO:probinson] xref: UMLS:C1866737 is_a: HP:0002980 ! Femoral bowing [Term] id: HP:0005092 name: Streaky metaphyseal sclerosis def: "The presence of streaks (bands) of abnormally increased density of metaphyseal bone." [HPO:probinson] synonym: "Streak increase in bone density in wide portion of wide bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025253 is_a: HP:0004979 ! Metaphyseal sclerosis [Term] id: HP:0005093 name: Absent proximal radial epiphyses def: "Absence of the proximal radial epiphysis." [HPO:curators] xref: UMLS:C1855301 is_a: HP:0010577 ! Absent epiphyses is_a: HP:0010596 ! Abnormality of the proximal radial epiphysis [Term] id: HP:0005096 name: Distal femoral bowing def: "A bending or abnormal curvature of the distal portion of the femur." [HPO:probinson] xref: UMLS:C1860107 is_a: HP:0002980 ! Femoral bowing [Term] id: HP:0005099 name: Severe hydrops fetalis synonym: "Severe hydrops" EXACT [] xref: UMLS:C1866048 is_a: HP:0001789 ! Hydrops fetalis [Term] id: HP:0005100 name: Premature birth following premature rupture of fetal membranes xref: UMLS:C1851833 is_a: HP:0001622 ! Premature birth is_a: HP:0001788 ! Premature rupture of membranes [Term] id: HP:0005101 name: High-frequency hearing impairment alt_id: HP:0008522 alt_id: HP:0008584 alt_id: HP:0008597 def: "A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz)." [HPO:probinson] comment: High frequency hearing impairment often involves loss of ability to hear consonants such as s, f, t, and z, even though vowels can be heard normally. synonym: "Hearing loss, high-frequency" EXACT layperson [] synonym: "High frequency hearing loss" EXACT layperson [] synonym: "High-frequency deafness" EXACT [] synonym: "Progressive high frequency hearing loss" EXACT layperson [] synonym: "Progressive high-frequency hearing loss" EXACT [] xref: MSH:D006316 xref: SNOMEDCT_US:232326009 xref: SNOMEDCT_US:48758008 xref: UMLS:C0018780 is_a: HP:0000365 ! Hearing impairment created_by: peter creation_date: 2008-03-25T05:03:00Z [Term] id: HP:0005102 name: Cochlear degeneration alt_id: HP:0008156 def: "Deterioration or loss of the tissues of the cochlea." [HPO:probinson] synonym: "Progressive cochlear degeneration" EXACT [] xref: UMLS:C1849095 is_a: HP:0000375 ! Abnormal cochlea morphology created_by: peter creation_date: 2008-03-25T05:06:00Z [Term] id: HP:0005103 name: Calcification of the auricular cartilage alt_id: HP:0008549 def: "Ossification affecting the external ear cartilage." [HPO:probinson, pmid:15523361, pmid:23259082] synonym: "Cartilaginous ossification of pinnae" EXACT [] synonym: "Ear cartilage calcification" RELATED [] synonym: "Ossification of pinnae" EXACT [] synonym: "Petrified ear" EXACT [] xref: UMLS:C1408806 is_a: HP:0000377 ! Abnormality of the pinna is_a: HP:0100593 ! Calcification of cartilage is_a: HP:3000022 ! Abnormality of cartilage of external ear created_by: peter creation_date: 2008-03-25T05:09:00Z [Term] id: HP:0005104 name: Hypoplastic nasal septum def: "Underdevelopment of the nasal septum." [HPO:curators] synonym: "Decreased size of nasal septum" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased size of septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Hypoplasia of septum of nose" EXACT [ORCID:0000-0001-5889-4463] synonym: "Small nasal septum" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Small septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1861328 is_a: HP:0009935 ! Aplasia/Hypoplasia of the nasal septum created_by: peter creation_date: 2008-03-25T05:15:00Z [Term] id: HP:0005105 name: Abnormal nasal morphology comment: This is a category for overall abnormal morphology that may be replaced later with more exact descriptions. synonym: "Abnormal nose morphology" EXACT [ORCID:0000-0001-5208-3432] synonym: "Abnormal of morphology of nose" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormal of nasal shape" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormal of shape of nose" EXACT layperson [ORCID:0000-0001-5889-4463] xref: Fyler:4870 xref: UMLS:C4025252 is_a: HP:0000366 ! Abnormality of the nose created_by: peter creation_date: 2008-03-25T05:21:00Z [Term] id: HP:0005106 name: Abnormality of the vertebral endplates def: "Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs." [HPO:curators] xref: UMLS:C4025251 is_a: HP:0003312 ! Abnormal form of the vertebral bodies created_by: peter creation_date: 2008-03-25T06:01:00Z [Term] id: HP:0005107 name: Abnormal sacrum morphology def: "An abnormality of the sacral bone." [HPO:probinson] comment: The sacrum is the large, roughly triangular bone at the base of the verterbal column that is formed by fusion of the five sacral vertebrae S1 to S5. subset: hposlim_core synonym: "Abnormality of the sacrum" EXACT [] xref: UMLS:C4025250 is_a: HP:0000925 ! Abnormality of the vertebral column created_by: peter creation_date: 2008-03-25T06:03:00Z [Term] id: HP:0005108 name: Abnormality of the intervertebral disk def: "An abnormality of the intervertebral disk." [HPO:probinson] comment: Any abnormality of the fibrocartilaginous structures that are located between adjacent vertebral bodies. subset: hposlim_core xref: UMLS:C4025249 is_a: HP:0000925 ! Abnormality of the vertebral column created_by: peter creation_date: 2008-03-25T06:05:00Z [Term] id: HP:0005109 name: Abnormality of the Achilles tendon def: "An abnormality of the Achilles tendon." [HPO:probinson] synonym: "Abnormality of the Achilles tendon" EXACT layperson [] synonym: "Abnormality of the calcaneal tendon" EXACT [] xref: UMLS:C4021642 is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0100261 ! Abnormal tendon morphology created_by: peter creation_date: 2008-03-25T06:21:00Z [Term] id: HP:0005110 name: Atrial fibrillation alt_id: HP:0001715 alt_id: HP:0005179 def: "An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute." [HPO:probinson] comment: The ventricular response to atrial fibrillation is irregularly irregular because of the large number of atrial impulses that transit the atrioventricular node, making the ventricle partially refractory to further impulses. Atrial fibrillation can cause a number of manifestations including excessive ventricular response with angina pectoris or hypotension in susceptible individuals, syncope, systemic embolization, fatigue, or anxiety. These features should be coded separately. synonym: "Quivering upper heart chambers resulting in irregular heartbeat" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D001281 xref: SNOMEDCT_US:49436004 xref: UMLS:C0004238 is_a: HP:0001692 ! Atrial arrhythmia created_by: peter creation_date: 2008-03-25T06:29:00Z [Term] id: HP:0005111 name: obsolete Dilatation of the ascending aorta is_obsolete: true replaced_by: HP:0004970 [Term] id: HP:0005112 name: Abdominal aortic aneurysm alt_id: HP:0004953 def: "An abnormal localized widening (dilatation) of the abdominal aorta." [] synonym: "Dilatation of the abdominal aorta" BROAD [] xref: UMLS:C4025248 is_a: HP:0004942 ! Aortic aneurysm created_by: peter creation_date: 2008-03-25T06:33:00Z [Term] id: HP:0005113 name: Aortic arch aneurysm alt_id: HP:0004965 def: "An abnormal localized widening (dilatation) of the aortic arch." [] synonym: "Aortic arch dilatation" BROAD [] synonym: "Dilatation of the aortic arch" BROAD [] xref: Fyler:2706 xref: UMLS:C1851119 is_a: HP:0012727 ! Thoracic aortic aneurysm created_by: peter creation_date: 2008-03-25T06:34:00Z [Term] id: HP:0005114 name: obsolete Abnormalities of the peripheral arteries is_obsolete: true replaced_by: HP:0011004 [Term] id: HP:0005115 name: Supraventricular arrhythmia def: "A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm." [HPO:probinson] comment: Supraventricular arrhythmia includes atrial arrhythmias (atrial tachycardia, atrial flutter, atrial fibrillation), atrioventricular nodal reentrant tachycardia, junctional ectopic tachycardia, atrioventricular reentrant tachycardia (Wolf-Parkinson-White Syndrome), orthodromic or antidromic. Supraventricular arrhythmia is distinct from ventricular tachycardia, which originates in the ventricles. synonym: "arrhythmias, Supraventricular" EXACT [HPO:skoehler] xref: SNOMEDCT_US:72654001 xref: UMLS:C0428974 is_a: HP:0011675 ! Arrhythmia created_by: peter creation_date: 2008-03-25T06:37:00Z [Term] id: HP:0005116 name: Arterial tortuosity def: "Abnormal tortuous (i.e., twisted) form of arteries." [HPO:curators] xref: UMLS:C3279191 is_a: HP:0004948 ! Vascular tortuosity is_a: HP:0011004 ! Abnormal systemic arterial morphology created_by: peter creation_date: 2008-03-25T06:39:00Z [Term] id: HP:0005117 name: Elevated diastolic blood pressure def: "Abnormal increase in diastolic blood pressure." [HPO:probinson] comment: Normal diastolic blood pressure is less than 80 mmHg. synonym: "Elevated diastolic BP" EXACT HP:0045077 [] xref: UMLS:C1840375 is_a: HP:0032263 ! Increased blood pressure created_by: peter creation_date: 2008-03-25T06:43:00Z [Term] id: HP:0005120 name: Abnormal cardiac atrium morphology def: "Any structural abnormality of a cardiac atrium." [HPO:probinson] synonym: "Abnormality of cardiac atrium morphology" EXACT [] synonym: "Abnormality of heart atrium" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025246 is_a: HP:0001627 ! Abnormal heart morphology created_by: peter creation_date: 2008-03-26T04:12:00Z [Term] id: HP:0005121 name: Posterior scalloping of vertebral bodies alt_id: HP:0004572 alt_id: HP:0004579 def: "An excessive concavity of the posterior surface of one or more vertebral bodies." [HPO:probinson] comment: The posterior vertebral scalloping sign appears on a lateral radiograph of the spine as an exaggeration of the normal concavity of the posterior surface of one or more vertebral bodies. Neurofibromatosis may be associated with marked scalloping of the posterior borders of the vertebral bodies resulting from intraspinal tumors. synonym: "Posterior vertebral body scalloping" EXACT [] xref: UMLS:C1850196 is_a: HP:0004586 ! Biconcave vertebral bodies [Term] id: HP:0005129 name: Congenital hypertrophy of left ventricle xref: UMLS:C1855901 is_a: HP:0001712 ! Left ventricular hypertrophy [Term] id: HP:0005130 name: obsolete Restrictive heart failure is_obsolete: true replaced_by: HP:0001723 [Term] id: HP:0005132 name: Pericardial constriction def: "Compression of the heart caused by rigid, thickened, or fused pericardial membranes." [PMID:14966039] xref: UMLS:C0240709 is_a: HP:0001697 ! Abnormal pericardium morphology [Term] id: HP:0005133 name: Right ventricular dilatation def: "Enlargement of the chamber of the right ventricle." [HPO:probinson, pmid:17715105] synonym: "Dilated heart right ventricle" EXACT [] xref: Fyler:1827 xref: Fyler:2333 xref: SNOMEDCT_US:253522006 xref: UMLS:C0344893 is_a: HP:0001707 ! Abnormal right ventricle morphology [Term] id: HP:0005134 name: Absence of the pulmonary valve alt_id: HP:0005131 def: "Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries." [DDD:dbrown] comment: The distinctive feature of APVS is the airway obstruction caused by tracheobronchial compression that results from massive dilatation of the main pulmonary artery (PA) and its first- and second-order branches. Consequential tracheomalacia and bronchomalacia determine the timing and severity of respiratory compromise, as well as the morbidity and mortality of these patients. synonym: "Absent pulmonary valve" EXACT [] xref: SNOMEDCT_US:6996004 xref: UMLS:C0265831 is_a: HP:0001641 ! Abnormal pulmonary valve morphology [Term] id: HP:0005135 name: Abnormal T-wave def: "An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles." [HPO:probinson] synonym: "EKG: T-wave abnormalities" EXACT [] synonym: "T-wave abnormalities" EXACT [] xref: UMLS:C4025245 is_a: HP:0003115 ! Abnormal EKG [Term] id: HP:0005136 name: Mitral annular calcification def: "Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus." [HPO:probinson, PMID:23587525] comment: MAC is a common degenerative process involving the fibrous annulus of the mitral valve, and is generally an incidental finding associated with aging. This term applies if MAC occurs at a substantially younger age than usual. synonym: "Premature calcification of mitral annulus" EXACT [] xref: UMLS:C1835130 is_a: HP:0004382 ! Mitral valve calcification [Term] id: HP:0005141 name: obsolete Episodes of ventricular tachycardia is_obsolete: true replaced_by: HP:0004751 [Term] id: HP:0005143 name: Anomalous origin of right pulmonary artery from ascending aorta def: "The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery." [DDD:dbrown] xref: SNOMEDCT_US:253634009 xref: UMLS:C0345037 is_a: HP:0011660 ! Anomalous origin of one pulmonary artery from ascending aorta [Term] id: HP:0005144 name: Ventricular septal hypertrophy def: "The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle." [http://www.heart.org/HEARTORG/Conditions/More/Cardiomyopathy/Hypertrophic-Cardiomyopathy_UCM_444317_Article.jsp#.WmePRJM-dL4, PMID:21349577] synonym: "Thickened interventricular septum" EXACT [] xref: UMLS:C1845019 is_a: HP:0010438 ! Abnormal ventricular septum morphology [Term] id: HP:0005145 name: Coronary artery stenosis def: "Abnormal narrowing of the coronary artery." [] synonym: "Narrowing of coronary artery" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D023921 xref: SNOMEDCT_US:233970002 xref: UMLS:C0242231 is_a: HP:0006704 ! Abnormal coronary artery morphology [Term] id: HP:0005146 name: Cardiac valve calcification def: "Abnormal calcification of a cardiac valve." [HPO:probinson] synonym: "Calcifications of the cardiac valves" EXACT [] xref: UMLS:C1856483 is_a: HP:0001654 ! Abnormal heart valve morphology is_a: HP:0011915 ! Cardiovascular calcification [Term] id: HP:0005147 name: Bidirectional ventricular ectopy xref: UMLS:C1969410 is_a: HP:0004308 ! Ventricular arrhythmia [Term] id: HP:0005148 name: Pulmonary valve defects def: "Any defect in the valve connecting the heart and the pulmonary artery." [] xref: UMLS:C1860165 is_a: HP:0001641 ! Abnormal pulmonary valve morphology [Term] id: HP:0005150 name: Abnormal atrioventricular conduction def: "An impairment of the electrical continuity between the atria and ventricles." [PMID:15372490] xref: UMLS:C4025244 is_a: HP:0031546 ! Cardiac conduction abnormality [Term] id: HP:0005151 name: Preductal coarctation of the aorta def: "Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch." [DDD:dbrown] comment: Blood flow to the aorta distal to the coarctation may be dependent on a patent ductus arteriosus, and hence closure of the ductus arteriosus can lead to serious ischemia of the affected tissues. synonym: "Proximal aortic coarctation" EXACT [] xref: SNOMEDCT_US:13867009 xref: UMLS:C0265878 is_a: HP:0012305 ! Coarctation of the descending aortic arch [Term] id: HP:0005152 name: Histiocytoid cardiomyopathy def: "A type of cardiomyopathy characterized pathologically by hamartomatous lesions of cardiac Purkinje cells." [PMID:21585276, PMID:28050600] comment: This HPO term intends to refer to the histological changes that characterize histiocytoid cardiomyopthy. The disease entity Histiocytoid cardiomyopathy is a rare arrhythmogenic disorder characterized by incessant ventricular tachycardia, cardiomegaly, and often sudden death by age 2 years. synonym: "Arachnocytosis of the myocardium" EXACT [] synonym: "Foamy myocardial transformation" EXACT [] synonym: "Focal lipid cardiomyopathy" EXACT [] synonym: "Infantile cardiomyopathy with histiocytoid changes" EXACT [] synonym: "Infantile xanthomatous cardiomyopathy" EXACT [] synonym: "Isolated cardiac lipidosis" EXACT [] synonym: "Myocardial or conduction system hamartoma" EXACT [] synonym: "Oncocytic cardiomyopathy" EXACT [] xref: MSH:C535584 xref: UMLS:C1708371 is_a: HP:0001638 ! Cardiomyopathy [Term] id: HP:0005155 name: Ventricular escape rhythm def: "A ventircular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms)." [] synonym: "Idioventricular escape rhythm" EXACT [] xref: SNOMEDCT_US:81898007 xref: UMLS:C0232216 is_a: HP:0004308 ! Ventricular arrhythmia [Term] id: HP:0005156 name: Hypoplastic left atrium def: "Underdeveloped, small left heart atrium" [] synonym: "Left atrium hypoplasia" EXACT [] synonym: "Underdeveloped left heart atrium" EXACT [] xref: Fyler:3040 xref: UMLS:C1970625 is_a: HP:0025579 ! Abnormal left atrium morphology [Term] id: HP:0005157 name: Concentric hypertrophic cardiomyopathy alt_id: HP:0001672 def: "Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy." [HPO:probinson] synonym: "Symmetric, concentric, hypertrophic cardiomyopathy" EXACT [] xref: UMLS:C0238044 is_a: HP:0001639 ! Hypertrophic cardiomyopathy [Term] id: HP:0005160 name: Total anomalous pulmonary venous return alt_id: HP:0005153 alt_id: HP:0005175 def: "Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium." [HPO:probinson] comment: Pulmonary veins drain through abnormal connections to the right atrium. synonym: "Total anomalous pulmonary venous connection" EXACT [] synonym: "Total anomalous pulmonary venous drainage" EXACT [] xref: Fyler:0900 xref: Fyler:900 xref: MSH:D012587 xref: SNOMEDCT_US:111323005 xref: SNOMEDCT_US:39905002 xref: UMLS:C0036400 is_a: HP:0010772 ! Anomalous pulmonary venous return [Term] id: HP:0005162 name: Left ventricular dysfunction alt_id: HP:0005154 def: "Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole." [http://www.heart.org/HEARTORG/Conditions/HeartFailure/AboutHeartFailure/Types-of-Heart-Failure_UCM_306323_Article.jsp#.WmeKyJM-dL4, PMID:10956313] synonym: "Impaired left ventricular function" EXACT [] synonym: "Left ventricular failure" EXACT [] synonym: "Left ventricular impairment" EXACT [] synonym: "Left-sided heart failure" EXACT [] xref: MSH:D006333 xref: SNOMEDCT_US:275514001 xref: SNOMEDCT_US:85232009 xref: UMLS:C0023212 xref: UMLS:C0553982 is_a: HP:0030872 ! Abnormal cardiac ventricular function [Term] id: HP:0005164 name: Dysplastic pulmonary valve def: "A congenital malformation of the pulmonary valve characterized by leaflet deformation." [PMID:7704986] xref: UMLS:C1866206 is_a: HP:0001641 ! Abnormal pulmonary valve morphology [Term] id: HP:0005165 name: Shortened PR interval def: "Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long." [HPO:probinson] synonym: "Electrocardiographic short PR interval" EXACT [] synonym: "Short P-R interval" EXACT [] synonym: "Shortened PR interval on EKG" EXACT [] xref: SNOMEDCT_US:49578007 xref: UMLS:C0520878 is_a: HP:0031593 ! Abnormal PR interval [Term] id: HP:0005168 name: Elevated right atrial pressure def: "An abnormal increase in magnitude of the pressure in the right atrium." [PMID:25211049] comment: Elevated mean right atrial pressure (RAP) can be measured by cardiac catheterization. xref: UMLS:C1867421 is_a: HP:0025443 ! Abnormal cardiac atrial physiology [Term] id: HP:0005170 name: Complete heart block with broad QRS complexes def: "A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex." [] xref: UMLS:C1861987 is_a: HP:0001709 ! Third degree atrioventricular block [Term] id: HP:0005172 name: Left posterior fascicular block def: "Conduction block in the posterior division of the left bundle branch of the bundle of His." [HPO:probinson] synonym: "Left posterior hemiblock" EXACT [] xref: SNOMEDCT_US:62026008 xref: UMLS:C0264913 is_a: HP:0011713 ! Left bundle branch block [Term] id: HP:0005173 name: obsolete Calcific aortic valve stenosis is_obsolete: true replaced_by: HP:0004380 [Term] id: HP:0005174 name: Membranous subvalvular aortic stenosis def: "Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency." [HPO:probinson, pmid:5817839] comment: An important feature in the differential diagnosis between valvular and subvalvular aortic stenosis is the fact that no ejection sound is present in the latter. xref: UMLS:C1848978 is_a: HP:0001682 ! Subvalvular aortic stenosis [Term] id: HP:0005176 name: Dysplastic aortic valve def: "A congenital malformation of the aortic valve characterized by leaflet deformation." [PMID:21349746] xref: UMLS:C1866207 is_a: HP:0001646 ! Abnormal aortic valve morphology [Term] id: HP:0005177 name: Premature arteriosclerosis def: "Arteriosclerosis occurring at an age that is younger than usual." [HPO:probinson] synonym: "Premature hardening of arteries" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1848486 xref: UMLS:C4280503 is_a: HP:0002634 ! Arteriosclerosis [Term] id: HP:0005178 name: Complete heart block with narrow QRS complexes def: "A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex." [] xref: UMLS:C1841661 is_a: HP:0001709 ! Third degree atrioventricular block [Term] id: HP:0005180 name: Tricuspid regurgitation alt_id: HP:0004753 def: "Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium." [HPO:probinson] comment: This term should not be applied to Ebstein's anomaly of the tricuspid valve (see HP:0010316). synonym: "Tricuspid insufficiency" EXACT [] synonym: "Tricuspid valve regurgitation" EXACT [ORCID:0000-0001-5208-3432] xref: Fyler:1161 xref: MSH:D014262 xref: SNOMEDCT_US:111287006 xref: UMLS:C0040961 is_a: HP:0031651 ! Abnormal tricuspid valve physiology [Term] id: HP:0005181 name: Premature coronary artery atherosclerosis def: "Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45." [PMID:28070240] synonym: "Premature coronary artery disease" EXACT layperson [] xref: UMLS:C1867743 is_a: HP:0001677 ! Coronary artery atherosclerosis [Term] id: HP:0005182 name: Bicuspid pulmonary valve def: "The presence of a bicuspid pulmonary valve." [HPO:probinson] comment: The pulmonary valve normally has three cusps (flaps), that is, it is normally tricuspid. xref: Fyler:1601 xref: SNOMEDCT_US:253599005 xref: UMLS:C0344987 is_a: HP:0031566 ! Abnormal pulmonary valve cusp morphology [Term] id: HP:0005183 name: Pericardial lymphangiectasia def: "An abnormal dilatation of lymph vessels in the pericardium." [PMID:18391124] xref: UMLS:C1856140 is_a: HP:0001697 ! Abnormal pericardium morphology is_a: HP:0031842 ! Lymphangiectasis [Term] id: HP:0005184 name: Prolonged QTc interval def: "A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations." [PMID:24097136] xref: UMLS:C1560305 is_a: HP:0001657 ! Prolonged QT interval [Term] id: HP:0005185 name: Global systolic dysfunction def: "A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly." [PMID:24173273, PMID:7713107] xref: UMLS:C1847397 is_a: HP:0006673 ! Reduced systolic function [Term] id: HP:0005186 name: Synovial hypertrophy xref: MSH:D013585 xref: SNOMEDCT_US:240206002 xref: UMLS:C0410574 is_a: HP:0005262 ! Abnormality of the synovia [Term] id: HP:0005187 name: Progressive joint destruction xref: UMLS:C4025243 is_a: HP:0001367 ! Abnormal joint morphology [Term] id: HP:0005190 name: Proximal finger joint hyperextensibility xref: UMLS:C4025242 is_a: HP:0001187 ! Hyperextensibility of the finger joints [Term] id: HP:0005191 name: Congenital knee dislocation synonym: "Dislocated knee since birth" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:59068006 xref: UMLS:C0265669 is_a: HP:0004976 ! Knee dislocation [Term] id: HP:0005193 name: Restricted large joint movement xref: UMLS:C4025241 is_a: HP:0001376 ! Limitation of joint mobility [Term] id: HP:0005194 name: Flattened metatarsal heads def: "Abnormally flat shape of the heads of the metatarsal bones." [HPO:probinson] comment: The metatarsal heads articulate with the proximal phalanges of the toes. synonym: "Flattened head of long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025240 is_a: HP:0001832 ! Abnormal metatarsal morphology [Term] id: HP:0005195 name: Polyarticular arthropathy xref: UMLS:C4025239 is_a: HP:0003040 ! Arthropathy [Term] id: HP:0005197 name: Generalized morning stiffness def: "A sensation of stiffness in the joints that occurs following waking up in the morning." [HPO:curators] xref: UMLS:C4025238 is_a: HP:0001387 ! Joint stiffness [Term] id: HP:0005198 name: Stiff interphalangeal joints def: "Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity." [HPO:curators] synonym: "Stiff hinge joints" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025237 is_a: HP:0001387 ! Joint stiffness is_a: HP:0005262 ! Abnormality of the synovia [Term] id: HP:0005199 name: Aplasia of the abdominal wall musculature def: "Absence of the abdominal musculature." [HPO:probinson] synonym: "Absent abdominal musculature" EXACT [] xref: UMLS:C3149223 is_a: HP:0010318 ! Aplasia/Hypoplasia of the abdominal wall musculature [Term] id: HP:0005200 name: Retroperitoneal fibrosis xref: MSH:D012185 xref: SNOMEDCT_US:49120005 xref: UMLS:C0035357 is_a: HP:0002585 ! Abnormality of the peritoneum [Term] id: HP:0005201 name: Anomalous splenoportal venous system xref: UMLS:C4025236 is_a: HP:0031941 ! Abnormal portal venous system morphology [Term] id: HP:0005202 name: Helicobacter pylori infection def: "A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach." [PMID:23652324] comment: The bacterial pathogen Helicobacter pylori has co-evolved with humans and colonizes approximately half of the human population, but only causes overt gastric disease in a subset of infected hosts. xref: UMLS:C0850666 is_a: HP:0004798 ! Recurrent infection of the gastrointestinal tract [Term] id: HP:0005203 name: Spontaneous esophageal perforation alt_id: HP:0005251 def: "The occurrence of the full-thickness tear (perforation) of the wall of the esophagus." [HPO:probinson] comment: Esophageal perforation can lead to retained gastric contents, saliva, bile, and other substances entering the mediastinum, resulting in mediastinitis, which in turn may lead to sepsis. synonym: "Boerhaave syndrome" RELATED [] synonym: "Spontaneous esophageal rupture" EXACT [] xref: MSH:C536571 xref: SNOMEDCT_US:19995004 xref: UMLS:C0238115 is_a: HP:0002031 ! Abnormal esophagus morphology [Term] id: HP:0005206 name: Pancreatic pseudocyst def: "Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis." [HPO:probinson] xref: MSH:D010192 xref: SNOMEDCT_US:111374002 xref: UMLS:C0030299 is_a: HP:0012090 ! Abnormal pancreas morphology [Term] id: HP:0005207 name: Gastric hypertrophy def: "Hypertrophy of the stomach." [HPO:probinson] synonym: "Increased stomach size" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1834341 xref: UMLS:C4280502 is_a: HP:0002577 ! Abnormality of the stomach [Term] id: HP:0005208 name: Secretory diarrhea def: "Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption." [HPO:probinson] xref: SNOMEDCT_US:15699003 xref: UMLS:C0267557 is_a: HP:0002014 ! Diarrhea [Term] id: HP:0005209 name: Intrahepatic bile duct cysts def: "The presence of cyst of the intrahepatic bile duct." [HPO:probinson] xref: SNOMEDCT_US:235925007 xref: UMLS:C0400991 is_a: HP:0011040 ! Abnormality of the intrahepatic bile duct [Term] id: HP:0005210 name: Hypoplastic colon def: "Underdevelopment of the colon." [HPO:probinson] synonym: "Hypoplasia of the colon" EXACT [] synonym: "Underdeveloped colon" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C1392839 is_a: HP:0100811 ! Aplasia/Hypoplasia of the colon [Term] id: HP:0005211 name: Midgut malrotation xref: UMLS:C1849706 is_a: HP:0002566 ! Intestinal malrotation [Term] id: HP:0005212 name: Anal mucosal leukoplakia def: "Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation." [HPO:probinson, pmid:13316552] xref: UMLS:C1844632 is_a: HP:0004378 ! Abnormality of the anus [Term] id: HP:0005213 name: Pancreatic calcification def: "The presence of abnormal calcium deposition lesions in the pancreas." [HPO:probinson] synonym: "Pancreatic calcifications" EXACT [] xref: UMLS:C1842406 is_a: HP:0010766 ! Ectopic calcification is_a: HP:0012090 ! Abnormal pancreas morphology [Term] id: HP:0005214 name: Intestinal obstruction alt_id: HP:0005239 def: "Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal." [HPO:probinson] synonym: "Bowel obstruction" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Intestinal blockage" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Intestinal obstruction" EXACT layperson [] xref: MSH:D007415 xref: SNOMEDCT_US:81060008 xref: UMLS:C0021843 is_a: HP:0002242 ! Abnormal intestine morphology is_a: HP:0004796 ! Gastrointestinal obstruction [Term] id: HP:0005215 name: Frequent Giardia lamblia infestation def: "Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection." [HPO:probinson] xref: UMLS:C4025235 is_a: HP:0004798 ! Recurrent infection of the gastrointestinal tract [Term] id: HP:0005216 name: Impaired mastication def: "An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing." [PMID:23713640] comment: Chewing and swallowing are interrelated. The act of chewing plays a fundamental role in the process of swallowing food. Mastication prepares food for swallowing by breaking it into small particles. Accordingly, loss of teeth has been associated with swallowing difficulties. Chewing difficulties may be caused by loss of teeth, partial dentures, or by tooth pain. Swallowing difficulties, in contrast, are often characterized by difficulties swallowing liquids, reflux, throat spasms, choking on dry food, or dysphagia. synonym: "Chewing difficulties" EXACT layperson [] synonym: "Chewing difficulty" EXACT layperson [] synonym: "Difficulty chewing" EXACT layperson [] xref: SNOMEDCT_US:162020001 xref: UMLS:C0239043 is_a: HP:0031815 ! Abnormal oral physiology [Term] id: HP:0005217 name: Duplication of internal organs xref: UMLS:C4025234 is_a: HP:0001438 ! Abnormality of abdomen morphology [Term] id: HP:0005218 name: Anoperineal fistula def: "The presence of a fistula (abnormal tunnel) between the anal canal and the perineum." [HPO:probinson] xref: UMLS:C1835798 is_a: HP:0004871 ! Perineal fistula is_a: HP:0010447 ! Anal fistula [Term] id: HP:0005219 name: Absence of intrinsic factor def: "Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12." [HPO:probinson] comment: This feature can be ascertained by immunoassay of gastric juices. synonym: "Intrinsic factor absent from gastric juice" EXACT [] xref: UMLS:C4021641 is_a: HP:0002577 ! Abnormality of the stomach [Term] id: HP:0005220 name: Multiple intestinal neurofibromatosis xref: UMLS:C4025233 is_a: HP:0001067 ! Neurofibromas is_a: HP:0002242 ! Abnormal intestine morphology is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract [Term] id: HP:0005222 name: Bowel diverticulosis def: "The presence of multiple diverticula of the intestine." [HPO:probinson] synonym: "Bowel diverticula" RELATED [] xref: UMLS:C1394691 xref: UMLS:C1395674 is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0005223 name: Duplicated colon xref: UMLS:C1850328 is_a: HP:0002250 ! Abnormal large intestine morphology is_a: HP:0100668 ! Intestinal duplication [Term] id: HP:0005224 name: Rectal abscess alt_id: HP:0002567 def: "A collection of pus in the area of the rectum." [HPO:probinson] synonym: "Perirectal abscess" EXACT [] xref: SNOMEDCT_US:197166005 xref: SNOMEDCT_US:91669008 xref: UMLS:C0149770 xref: UMLS:C0267566 is_a: HP:0002034 ! Abnormality of the rectum is_a: HP:0025615 ! Abscess [Term] id: HP:0005225 name: Intestinal edema def: "Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds." [HPO:6045396, HPO:probinson] comment: This finding can be observed upon abdominal radiography. The bowel lumen may be slightly dilated. Secondary to the fluid accumulation, there are anatomic and motor alterations in the intestine which are reflected in the roentgenogram. xref: UMLS:C1142262 is_a: HP:0000969 ! Edema is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0005227 name: Adenomatous colonic polyposis alt_id: HP:0005226 def: "Presence of multiple adenomatous polyps in the colon." [HPO:probinson] synonym: "Multiple adenomatous colon polyps" EXACT [] synonym: "Multiple colonic adenomatous polyps" EXACT [] xref: MEDDRA:10056981 "Adenomatous polyposis coli" xref: UMLS:C1868071 is_a: HP:0030255 ! Large intestinal polyposis is_a: HP:0100273 ! Neoplasm of the colon [Term] id: HP:0005229 name: Jejunoileal ulceration xref: UMLS:C4025232 is_a: HP:0001549 ! Abnormal ileum morphology is_a: HP:0005265 ! Abnormality of the jejunum [Term] id: HP:0005230 name: Biliary tract obstruction def: "Obstruction affecting the biliary tree." [HPO:probinson] xref: SNOMEDCT_US:235918000 xref: UMLS:C0400979 is_a: HP:0012440 ! Abnormal biliary tract morphology [Term] id: HP:0005231 name: Chronic gastritis def: "A chronic form of gastritis." [HPO:probinson] xref: SNOMEDCT_US:8493009 xref: UMLS:C0085695 is_a: HP:0005263 ! Gastritis [Term] id: HP:0005232 name: Pancreatic dysplasia def: "The presence of developmental dysplasia of the pancreas." [HPO:probinson] comment: Dysplasia is defined in MPATH as a distortion or deficiency of the tissue or cellular architecture. xref: UMLS:C4019084 is_a: HP:0012090 ! Abnormal pancreas morphology [Term] id: HP:0005233 name: Hypoplasia of the gallbladder def: "The presence of a hypoplastic gallbladder." [HPO:probinson] synonym: "Hypoplastic gallbladder" EXACT [] xref: SNOMEDCT_US:93259002 xref: UMLS:C0345282 is_a: HP:0011466 ! Aplasia/Hypoplasia of the gallbladder [Term] id: HP:0005234 name: Neonatal intestinal obstruction xref: UMLS:C0859974 is_a: HP:0005214 ! Intestinal obstruction [Term] id: HP:0005235 name: Jejunal atresia alt_id: HP:0011101 def: "A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum." [HPO:probinson] xref: MSH:D007409 xref: SNOMEDCT_US:204702007 xref: SNOMEDCT_US:360491009 xref: UMLS:C0266175 is_a: HP:0005265 ! Abnormality of the jejunum is_a: HP:0011100 ! Intestinal atresia [Term] id: HP:0005236 name: Chronic calcifying pancreatitis def: "A form of chronic pancreatitis that is characterized by calcification." [HPO:probinson] xref: UMLS:C4025231 is_a: HP:0001733 ! Pancreatitis [Term] id: HP:0005237 name: Degenerative liver disease def: "The presence of degenerative changes of the liver." [HPO:probinson] xref: UMLS:C4025230 is_a: HP:0410042 ! Abnormal liver morphology [Term] id: HP:0005238 name: Discrete intestinal polyps xref: UMLS:C4025229 is_a: HP:0200008 ! Intestinal polyposis [Term] id: HP:0005240 name: Esophageal obstruction xref: SNOMEDCT_US:405247003 xref: UMLS:C0239296 is_a: HP:0002031 ! Abnormal esophagus morphology is_a: HP:0004796 ! Gastrointestinal obstruction [Term] id: HP:0005241 name: Total intestinal aganglionosis def: "A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel." [HPO:probinson, pmid:596929] xref: MSH:C538058 xref: SNOMEDCT_US:204745000 xref: UMLS:C0345240 is_a: HP:0004362 ! Abnormality of enteric ganglion morphology [Term] id: HP:0005242 name: Extrahepatic biliary duct atresia alt_id: HP:0006553 def: "Atresia in the extrahepatic bile duct." [HPO:probinson] synonym: "Biliary atresia, extrahepatic" EXACT [] xref: MSH:D001656 xref: SNOMEDCT_US:77480004 xref: SNOMEDCT_US:82821008 xref: UMLS:C0005411 is_a: HP:0005912 ! Biliary atresia [Term] id: HP:0005243 name: Partial abdominal muscle agenesis def: "Failure to form of portions of the abdominal musculature." [HPO:probinson] xref: UMLS:C4025228 is_a: HP:0010318 ! Aplasia/Hypoplasia of the abdominal wall musculature [Term] id: HP:0005244 name: Gastrointestinal infarctions synonym: "Death of digestive organ tissue due to poor blood supply" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "GI infarctions" EXACT HP:0045077 [] xref: UMLS:C3152231 is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract [Term] id: HP:0005245 name: Intestinal hypoplasia def: "Developmental hypoplasia of the intestine." [HPO:probinson] synonym: "Hypoplastic intestines" EXACT [] synonym: "Underdeveloped instestine" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021640 is_a: HP:0002242 ! Abnormal intestine morphology [Term] id: HP:0005246 name: Giant hypertrophic gastritis def: "A type of gastritis characterized by excessive proliferation of the gastric mucosa and diffuse thickening of the gastric mucosal folds." [HPO:probinson] synonym: "Menetrier disease" RELATED [] xref: MSH:D005758 xref: SNOMEDCT_US:413219009 xref: SNOMEDCT_US:60002000 xref: UMLS:C0017155 is_a: HP:0005263 ! Gastritis [Term] id: HP:0005247 name: Hypoplasia of the abdominal wall musculature def: "Underdevelopment of the abdominal musculature." [HPO:probinson] synonym: "Abdominal muscular hypoplasia" EXACT [] xref: UMLS:C3279407 is_a: HP:0010318 ! Aplasia/Hypoplasia of the abdominal wall musculature [Term] id: HP:0005248 name: Intrahepatic biliary atresia def: "Atresia in the intrahepatic bile duct." [HPO:probinson] synonym: "Bile duct paucity" EXACT [https://orcid.org/0000-0001-5208-3432, PMID:6981794] synonym: "Intrahepatic atresia of biliary duct" EXACT [] xref: UMLS:C1855284 is_a: HP:0005912 ! Biliary atresia is_a: HP:0011040 ! Abnormality of the intrahepatic bile duct [Term] id: HP:0005249 name: Functional intestinal obstruction xref: UMLS:C3639956 is_a: HP:0004796 ! Gastrointestinal obstruction [Term] id: HP:0005250 name: High intestinal obstruction xref: UMLS:C4025227 is_a: HP:0005214 ! Intestinal obstruction [Term] id: HP:0005253 name: Increased anterioposterior diameter of thorax synonym: "Increased anterioposterior diameter of chest" EXACT [] xref: UMLS:C1848760 is_a: HP:0100625 ! Enlarged thorax [Term] id: HP:0005254 name: Unilateral chest hypoplasia synonym: "Small chest on one side" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Underdeveloped chest on one side" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1845576 is_a: HP:0005257 ! Thoracic hypoplasia [Term] id: HP:0005255 name: Absence of pectoralis minor muscle def: "Aplasia (congenital absence) of the pectoralis minor." [HPO:probinson] synonym: "Pectoralis minor aplasia" EXACT [] xref: UMLS:C1868158 is_a: HP:0011957 ! Abnormal pectoral muscle morphology [Term] id: HP:0005256 name: Unilateral absence of pectoralis major muscle def: "Aplasia (congenital absence) of the pectoralis minor on only one side of the chest." [HPO:probinson] synonym: "Unilateral aplasia of pectoralis major muscle" EXACT [] xref: UMLS:C4021639 is_a: HP:0011957 ! Abnormal pectoral muscle morphology [Term] id: HP:0005257 name: Thoracic hypoplasia alt_id: HP:0001590 synonym: "Small chest" EXACT layperson [] synonym: "Small thorax" EXACT layperson [] xref: UMLS:C1837482 is_a: HP:0000765 ! Abnormality of the thorax [Term] id: HP:0005258 name: Pectoral muscle hypoplasia/aplasia synonym: "Small/absent pec muscle" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Underdeveloped/absent pec muscle" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025226 is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature [Term] id: HP:0005259 name: Abnormal facility in opposing the shoulders xref: UMLS:C1861517 is_a: HP:0001547 ! Abnormality of the rib cage [Term] id: HP:0005261 name: Joint hemorrhage alt_id: HP:0001391 alt_id: HP:0005196 def: "Hemorrhage occurring within a joint." [HPO:gcarletti] synonym: "Bleeding within a joint" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hemarthroses" EXACT [] synonym: "Hemarthrosis" EXACT layperson [] synonym: "Joint haemorrhage" EXACT [] synonym: "Spontaneous joint hemorrhage" EXACT [] xref: MSH:D006395 xref: SNOMEDCT_US:81808003 xref: UMLS:C0018924 is_a: HP:0001367 ! Abnormal joint morphology is_a: HP:0011029 ! Internal hemorrhage created_by: peter creation_date: 2008-03-26T04:27:00Z [Term] id: HP:0005262 name: Abnormality of the synovia xref: UMLS:C4025225 is_a: HP:0001367 ! Abnormal joint morphology created_by: peter creation_date: 2008-03-26T04:27:00Z [Term] id: HP:0005263 name: Gastritis def: "The presence of inflammation of the gastric mucous membrane." [HPO:probinson] subset: hposlim_core synonym: "Stomach inflammation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MEDDRA:10017853 "Gastritis" xref: MSH:D005756 xref: SNOMEDCT_US:4556007 xref: UMLS:C0017152 is_a: HP:0004295 ! Abnormality of the gastric mucosa created_by: peter creation_date: 2008-03-26T04:32:00Z [Term] id: HP:0005264 name: Abnormality of the gallbladder def: "An abnormality of the gallbladder." [HPO:probinson] synonym: "Abnormality of the gallbladder" EXACT layperson [] synonym: "Anomaly of the gallbladder" EXACT [] xref: SNOMEDCT_US:253803008 xref: SNOMEDCT_US:49714001 xref: UMLS:C0266249 is_a: HP:0004297 ! Abnormality of the biliary system created_by: peter creation_date: 2008-03-26T04:40:00Z [Term] id: HP:0005265 name: Abnormality of the jejunum def: "An abnormality of the jejunum, i.e., of the middle section of the small intestine." [HPO:probinson] xref: UMLS:C4025224 is_a: HP:0002244 ! Abnormality of the small intestine created_by: peter creation_date: 2008-03-26T04:44:00Z [Term] id: HP:0005266 name: Intestinal polyp def: "A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base." [HPO:probinson] synonym: "Intestinal polyps" RELATED [] xref: MSH:D007417 xref: SNOMEDCT_US:254588001 xref: UMLS:C0021846 is_a: HP:0002242 ! Abnormal intestine morphology is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract created_by: peter creation_date: 2008-03-26T04:46:00Z [Term] id: HP:0005267 name: Premature delivery because of cervical insufficiency or membrane fragility xref: UMLS:C1851808 is_a: HP:0001622 ! Premature birth [Term] id: HP:0005268 name: Spontaneous abortion def: "A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 20th week of pregnancy." [HPO:probinson] synonym: "Miscarriage" EXACT [] xref: MSH:D000022 xref: SNOMEDCT_US:17369002 xref: UMLS:C0000786 is_a: HP:0001787 ! Abnormal delivery [Term] id: HP:0005272 name: Prominent nasolabial fold def: "Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure)." [pmid:19125428] subset: hposlim_core synonym: "Deep laugh lines" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Deep nasolabial crease" EXACT [ORCID:0000-0001-5889-4463] synonym: "Deep nasolabial fold" EXACT [ORCID:0000-0001-5889-4463] synonym: "Deep nasolabial groove" EXACT [ORCID:0000-0001-5889-4463] synonym: "Deep smile lines" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Nasolabial crease, prominent" EXACT [] synonym: "Prominent laugh lines" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Prominent nasolabial groove" EXACT [ORCID:0000-0001-5889-4463] synonym: "Prominent smile lines" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1866487 is_a: HP:0005289 ! Abnormality of the nasolabial region [Term] id: HP:0005273 name: Absent nasal septal cartilage def: "Lack of the cartilage of the nasal septum." [HPO:probinson] subset: hposlim_core synonym: "Absent nasal septal cartilage" EXACT layperson [] synonym: "Absent nasal septum" EXACT layperson [] synonym: "Ageneis of nasal septal cartilage" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of nasal septal cartilage" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021638 xref: UMLS:C4280501 is_a: HP:0009935 ! Aplasia/Hypoplasia of the nasal septum is_a: HP:3000034 ! Abnormality of cartilage of nasal septum [Term] id: HP:0005274 name: Prominent nasal tip synonym: "Bulbous tip of nose" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Hyperplasia of nasal tip" RELATED [ORCID:0000-0001-5889-4463] synonym: "Hyperplasia of tip of nose" RELATED [ORCID:0000-0001-5889-4463] synonym: "Hypertrophy of nasal tip" RELATED [ORCID:0000-0001-5889-4463] synonym: "Hypertrophy of tip of nose" RELATED [ORCID:0000-0001-5889-4463] synonym: "Large nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Large tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Prominent nasal tip" EXACT layperson [] synonym: "Prominent tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Pronounced nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Pronounced tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1856118 xref: UMLS:C4280498 xref: UMLS:C4280499 xref: UMLS:C4280500 is_a: HP:0000436 ! Abnormality of the nasal tip [Term] id: HP:0005275 name: Cartilaginous ossification of nose synonym: "Cartilaginous nasal ossification" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1855616 is_a: HP:0000429 ! Abnormality of the nasal alae [Term] id: HP:0005278 name: Hypoplastic nasal tip synonym: "Aplasia of nasal tip" NARROW [ORCID:0000-0001-5889-4463] synonym: "Decreased size of nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased size of tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Deficient nasal tip" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Hypoplasia of tip of nose" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypotrophic nasal tip" RELATED [ORCID:0000-0001-5889-4463] synonym: "Hypotrophic tip of nose" RELATED [ORCID:0000-0001-5889-4463] synonym: "Small nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Small tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1844731 xref: UMLS:C4280496 xref: UMLS:C4280497 is_a: HP:0000436 ! Abnormality of the nasal tip [Term] id: HP:0005280 name: Depressed nasal bridge alt_id: HP:0000425 alt_id: HP:0000428 alt_id: HP:0000439 alt_id: HP:0000459 alt_id: HP:0004413 alt_id: HP:0004505 alt_id: HP:0004506 alt_id: HP:0004666 alt_id: HP:0005119 alt_id: HP:0005284 def: "Posterior positioning of the nasal root in relation to the overall facial profile for age." [pmid:19152422] comment: The adjective "depressed" here does not indicate an active process but a status. A depressed nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed independently. In infancy, the nasal bridge is relatively more posterior than in the older person. The term depressed nasal bridge should only be used when the bridge is more posterior than is typical for age and ethnic background. subset: hposlim_core synonym: "Concave bridge of nose" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Concave nasal bridge" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Depressed bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Depressed nasal bridge" EXACT layperson [] synonym: "Depressed nasal root" EXACT [] synonym: "Depressed nasal root/bridge" RELATED [HPO:skoehler] synonym: "Flat bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Flat nasal bridge" EXACT layperson [] synonym: "Flat nasal root" EXACT [] synonym: "Flat, nasal bridge" EXACT layperson [] synonym: "Flattened nasal bridge" EXACT layperson [] synonym: "Low nasal bridge" EXACT layperson [] synonym: "Low nasal root" EXACT layperson [HPO:skoehler] synonym: "Retruded bridge of nose" EXACT [ORCID:0000-0001-5889-4463] synonym: "Retruded nasal bridge" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1836542 xref: UMLS:C3550546 xref: UMLS:C4280495 is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0005281 name: Hypoplastic nasal bridge synonym: "Decreased size of bridge of nose" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased size of nasal bridge" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Hypoplastic bridge of nose" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypotrophic bridge of nose" RELATED [ORCID:0000-0001-5889-4463] synonym: "Hypotrophic nasal bridge" RELATED [ORCID:0000-0001-5889-4463] synonym: "Small bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Small nasal bridge" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1865597 xref: UMLS:C4280494 is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0005285 name: Absent nasal bridge synonym: "Absent bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Absent nasal bridge" EXACT layperson [] synonym: "Agenesis of bridge of nose" EXACT [ORCID:0000-0001-5889-4463] synonym: "Agenesis of nasal bridge" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing bridge of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Missing nasal bridge" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1837888 is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0005288 name: Abnormality of the nares def: "Abnormality of the nostril." [HPO:curators] subset: hposlim_core synonym: "Abnormality of the nostrils" EXACT layperson [] synonym: "Anomaly of the nares" EXACT [ORCID:0000-0001-5889-4463] synonym: "Deformity of the nares" NARROW [ORCID:0000-0001-5889-4463] synonym: "Deformity of the nostrils" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of the nares" NARROW [ORCID:0000-0001-5889-4463] synonym: "Malformation of the nostrils" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021637 is_a: HP:0000366 ! Abnormality of the nose created_by: peter creation_date: 2008-03-26T06:04:00Z [Term] id: HP:0005289 name: Abnormality of the nasolabial region synonym: "Anomaly of the nasolabial region" EXACT [ORCID:0000-0001-5889-4463] synonym: "Deformity of the nasolabial region" NARROW [ORCID:0000-0001-5889-4463] synonym: "Malformation of the nasolabial region" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4025223 is_a: HP:0000366 ! Abnormality of the nose created_by: peter creation_date: 2008-03-26T06:07:00Z [Term] id: HP:0005290 name: Internal carotid artery hypoplasia synonym: "Aplasia of internal carotid artery" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased size of internal carotid artery" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Deficiency of internal carotid artery" RELATED [ORCID:0000-0001-5889-4463] synonym: "Hypotrophic internal carotid artery" RELATED [ORCID:0000-0001-5889-4463] synonym: "Small internal carotid artery" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1855736 xref: UMLS:C4280491 xref: UMLS:C4280492 xref: UMLS:C4280493 is_a: HP:3000062 ! Abnormal internal carotid artery morphology [Term] id: HP:0005291 name: Inflammatory arteriopathy xref: UMLS:C4025222 is_a: HP:0002633 ! Vasculitis [Term] id: HP:0005292 name: Intimal thickening in the coronary arteries xref: UMLS:C1968633 is_a: HP:0006704 ! Abnormal coronary artery morphology [Term] id: HP:0005293 name: Venous insufficiency synonym: "Poorly functioning veins" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:D014689 xref: SNOMEDCT_US:20696009 xref: UMLS:C0042485 is_a: HP:0002624 ! Abnormal venous morphology [Term] id: HP:0005294 name: Arterial dissection def: "A separation (dissection) of the layers of an artery." [HPO:probinson] xref: MSH:D000784 xref: SNOMEDCT_US:233992003 xref: SNOMEDCT_US:26845001 xref: SNOMEDCT_US:710864009 xref: SNOMEDCT_US:9406001 xref: UMLS:C0002949 is_a: HP:0011004 ! Abnormal systemic arterial morphology [Term] id: HP:0005295 name: Pseudocoarctation of the aorta def: "Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum." [HPO:probinson, pmid:17593995, pmid:18651460] comment: Note that the ligamentum arteriosum, which develops from the ductus arteriosus, is attached to the superior surface of the pulmonary artery and the inferior surface of the aortic arch. xref: SNOMEDCT_US:70602002 xref: UMLS:C0345088 is_a: HP:0012303 ! Abnormal aortic arch morphology [Term] id: HP:0005296 name: obsolete Occlusive vascular disease is_obsolete: true replaced_by: HP:0004950 [Term] id: HP:0005297 name: Premature occlusive vascular stenosis def: "Peripheral arterial stenosis with onset before the age of 50 years." [] xref: UMLS:C1867457 is_a: HP:0004950 ! Peripheral arterial stenosis [Term] id: HP:0005298 name: obsolete Atrioventricular canal defect with right ventricle aorta and pulmonary atresia is_obsolete: true replaced_by: HP:0006695 [Term] id: HP:0005299 name: obsolete Premature peripheral vascular disease is_obsolete: true replaced_by: HP:0004950 [Term] id: HP:0005300 name: Nodular inflammatory vasculitis xref: UMLS:C4025219 is_a: HP:0002633 ! Vasculitis [Term] id: HP:0005301 name: Persistent left superior vena cava def: "A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress." [PMID:18847480] synonym: "PLSVC" EXACT HP:0045077 [] xref: SNOMEDCT_US:77978002 xref: UMLS:C0265931 is_a: HP:0025575 ! Abnormal superior vena cava morphology [Term] id: HP:0005302 name: Carotid artery tortuosity def: "Abnormal tortuous (i.e., twisted) form of the carotid arteries." [HPO:probinson] synonym: "Tortuous carotid arteries" EXACT [] xref: SNOMEDCT_US:401051003 xref: UMLS:C1303076 is_a: HP:0005116 ! Arterial tortuosity is_a: HP:0005344 ! Abnormal carotid artery morphology [Term] id: HP:0005303 name: Aortic arch calcification def: "Calcification, that is, pathological deposition of calcium salts in the arch of aorta." [HPO:probinson] xref: UMLS:C1969291 is_a: HP:0004962 ! Thoracic aorta calcification [Term] id: HP:0005304 name: Hypoplastic pulmonary veins synonym: "Underdeveloped lung veins" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1970501 is_a: HP:0030968 ! Abnormal pulmonary vein morphology [Term] id: HP:0005305 name: Cerebral venous thrombosis def: "Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow." [HPO:probinson] synonym: "Blood clot in cerebral vein" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Cerebral thrombosis" EXACT [] synonym: "Cerebral vein thrombosis" EXACT [] xref: SNOMEDCT_US:95455008 xref: UMLS:C0151945 is_a: HP:0004936 ! Venous thrombosis [Term] id: HP:0005306 name: Capillary hemangioma def: "The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces." [HPO:probinson] subset: hposlim_core synonym: "Capillary hemangioma" EXACT [] synonym: "Strawberry birthmark" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D018324 xref: SNOMEDCT_US:195382003 xref: SNOMEDCT_US:254206003 xref: SNOMEDCT_US:402867006 xref: SNOMEDCT_US:56975005 xref: SNOMEDCT_US:83343001 xref: UMLS:C0206733 is_a: HP:0001028 ! Hemangioma [Term] id: HP:0005307 name: Postural hypotension with compensatory tachycardia xref: UMLS:C1850438 is_a: HP:0001278 ! Orthostatic hypotension [Term] id: HP:0005308 name: Pulmonary artery vasoconstriction xref: UMLS:C1867424 is_a: HP:0030967 ! Abnormal pulmonary artery physiology [Term] id: HP:0005309 name: obsolete Peripheral vascular insufficiency is_obsolete: true replaced_by: HP:0004950 [Term] id: HP:0005310 name: Large vessel vasculitis def: "A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta." [HPO:probinson, pmid:16088500] xref: UMLS:C4025218 is_a: HP:0002633 ! Vasculitis [Term] id: HP:0005311 name: Agenesis of pulmonary vessels synonym: "Absent lung vessels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1970630 is_a: HP:0004930 ! Abnormality of the pulmonary vasculature [Term] id: HP:0005312 name: Pulmonary aterial intimal fibrosis def: "Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation." [HPO:probinson] comment: Some causes of intimal fibrosis are hypertension, intimal fibroplasia, arterial atheroma, and CADASIL syndrome. xref: UMLS:C4025217 is_a: HP:0030966 ! Abnormal pulmonary artery morphology [Term] id: HP:0005313 name: Arterial fibromuscular dysplasia def: "An arterial lesion that is characterized by either intimal fibroplasia, with neointimal lesions of cells and matrix deposition, or medial fibroplasia, in which there is loss of smooth muscle cells and increased deposition of collagen and proteoglycans in the medial layer." [PMID:27939641] comment: Fibromuscular dysplasia (FMD) is distinct from atherosclerotic lesions in that FMD lesions do not contain inflammatory cells or lipids. Instead, the pathology of FMD. FMD can result in arterial stenosis or occlusion, and less commonly, arterial dissection or aneurysm formation. FMD can affect almost any artery but most commonly affects the renal arteries, presenting as hypertension, and the carotid and vertebral arteries, leading to ischemic stroke, transient ischemic attacks, headaches, and pulsatile tinnitus. xref: MSH:D005352 xref: SNOMEDCT_US:31653004 xref: SNOMEDCT_US:359553002 xref: UMLS:C0016052 is_a: HP:0011004 ! Abnormal systemic arterial morphology [Term] id: HP:0005314 name: Anomalous branches of internal carotid artery xref: UMLS:C1847886 is_a: HP:0005344 ! Abnormal carotid artery morphology [Term] id: HP:0005315 name: obsolete Peripheral artery occlusive disease is_obsolete: true replaced_by: HP:0004950 [Term] id: HP:0005316 name: Peripheral pulmonary vessel aplasia xref: UMLS:C1848877 is_a: HP:0004930 ! Abnormality of the pulmonary vasculature [Term] id: HP:0005317 name: Increased pulmonary vascular resistance comment: Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units. xref: UMLS:C1867423 is_a: HP:0030875 ! Abnormality of pulmonary circulation [Term] id: HP:0005318 name: Cerebral vasculitis def: "Inflammation of the blood vessels within the brain." [HPO:probinson] xref: MSH:D020293 xref: SNOMEDCT_US:427020007 xref: UMLS:C0238051 is_a: HP:0002633 ! Vasculitis is_a: HP:0100659 ! Abnormality of the cerebral vasculature [Term] id: HP:0005320 name: Lack of facial subcutaneous fat synonym: "Lack of facial fat below the skin" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C3277426 is_a: HP:0003717 ! Minimal subcutaneous fat [Term] id: HP:0005321 name: Mandibulofacial dysostosis def: "A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations." [HPO:probinson] synonym: "Treacher collins syndrome" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:D008342 xref: SNOMEDCT_US:82203000 xref: UMLS:C0242387 is_a: HP:0004439 ! Craniofacial dysostosis [Term] id: HP:0005322 name: Prominent nasal septum synonym: "Low hanging nasal septum" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Low hanging septum of nose" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Prominent nasal septum" EXACT layperson [] synonym: "Prominent septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Visible nasal septum" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Visible septum of nose" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025216 xref: UMLS:C4280489 xref: UMLS:C4280490 is_a: HP:0000419 ! Abnormality of the nasal septum [Term] id: HP:0005323 name: Hemifacial hypertrophy def: "Unilateral overgrowth of facial tissues, including muscles, bones and skin." [HPO:probinson] subset: hposlim_core synonym: "Enlargement of half of face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Facial hemihyperplasia" RELATED [ORCID:0000-0001-5889-4463] synonym: "Facial hemihypertophy" EXACT [ORCID:0000-0001-5889-4463] synonym: "Friedreich's disease" RELATED [ORCID:0000-0001-5889-4463] synonym: "Hemifacial enlargement" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Hypertrophy of half of face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increase in size of half of face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Overgrowth of half of face" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:C563014 xref: MSH:D005621 xref: SNOMEDCT_US:10394003 xref: SNOMEDCT_US:697962004 xref: UMLS:C0016719 xref: UMLS:C1399354 is_a: HP:0000324 ! Facial asymmetry [Term] id: HP:0005324 name: Disturbance of facial expression def: "An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed." [DDD:cwright] synonym: "Disturbance of facial expression" EXACT layperson [] xref: UMLS:C4025215 is_a: HP:0005346 ! Abnormal facial expression [Term] id: HP:0005325 name: Extension of hair growth on temples to lateral eyebrow def: "A pattern of hair growth in which there is hair exnteding from the temples to the lateral eyebrows." [HPO:probinson] synonym: "Unusual hairline with hair growth on temples extending to lateral eyebrow" EXACT [] xref: UMLS:C1857455 is_a: HP:0000599 ! Abnormality of the frontal hairline [Term] id: HP:0005326 name: Hypoplastic philtrum alt_id: HP:0005331 def: "Underdevelopment of the philtrum." [HPO:probinson] synonym: "Small philtrum" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1856886 is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0005327 name: Loss of facial expression synonym: "Loss of facial expression" EXACT layperson [] xref: UMLS:C1852476 is_a: HP:0004673 ! Decreased facial expression [Term] id: HP:0005328 name: Progeroid facial appearance alt_id: HP:0000335 alt_id: HP:0005333 def: "A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance." [HPO:probinson] synonym: "Aged facial appearance" EXACT [] synonym: "Premature aged appearance" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Prematurely aged face" EXACT [] synonym: "Prematurely aged facial appearance" EXACT [] synonym: "Wizened face" EXACT [] xref: UMLS:C1857710 is_a: HP:0007495 ! Prematurely aged appearance [Term] id: HP:0005329 name: Fixed facial expression synonym: "Fixed facial expression" EXACT layperson [] synonym: "Unchanging facial expression" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1855353 is_a: HP:0004673 ! Decreased facial expression [Term] id: HP:0005332 name: Recurrent mandibular subluxations def: "Recurrent partial dislocations of the mandible." [HPO:curators] xref: UMLS:C1857011 is_a: HP:0000277 ! Abnormality of the mandible is_a: HP:0032153 ! Joint subluxation [Term] id: HP:0005335 name: Sleepy facial expression synonym: "Sleepy facial expression" EXACT layperson [] synonym: "Somnolent facial expression" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025214 is_a: HP:0005324 ! Disturbance of facial expression [Term] id: HP:0005336 name: Forehead hyperpigmentation synonym: "Darkening of the forehead" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1969673 is_a: HP:0000290 ! Abnormality of the forehead is_a: HP:0007400 ! Irregular hyperpigmentation [Term] id: HP:0005338 name: Sparse lateral eyebrow alt_id: HP:0004521 alt_id: HP:0009923 def: "Decreased density/number and/or decreased diameter of lateral eyebrow hairs." [HPO:probinson] comment: Abnormal sparseness of the eyebrows laterally. subset: hposlim_core synonym: "Lateral hypoplasia of eyebrows" EXACT [] synonym: "Lateral thinning of eyebrows" EXACT [] synonym: "Laterally sparse eyebrow" EXACT [] synonym: "Laterally sparse eyebrows" EXACT [HPO:skoehler] synonym: "Limited hair on end of eyebrow" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Sparse lateral eyebrows" RELATED [HPO:skoehler] xref: UMLS:C1857206 is_a: HP:0045075 ! Sparse eyebrow [Term] id: HP:0005339 name: Abnormality of complement system alt_id: HP:0025541 def: "An abnormality of the complement system." [HPO:probinson, pmid:19388161] comment: The complement system represents a family of over 25 serum proteins and cell surface receptors that act in a cascade manner leading to innate functions such as inflammation and enhancement of adaptive immunity. Three general pathways, i.e. classical, lectin and alternative, activate the complement system. xref: UMLS:C4025213 is_a: HP:0005368 ! Abnormality of humoral immunity created_by: peter creation_date: 2008-03-26T07:58:00Z [Term] id: HP:0005340 name: Spastic/hyperactive bladder xref: UMLS:C1836904 is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0005341 name: Autonomic bladder dysfunction def: "Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system." [HPO:probinson] xref: UMLS:C4025212 is_a: HP:0012332 ! Abnormal autonomic nervous system physiology [Term] id: HP:0005343 name: Hypoplasia of the bladder alt_id: HP:0005342 def: "Underdevelopment of the urinary bladder." [HPO:probinson] synonym: "Hypoplastic bladder" EXACT [] synonym: "Underdeveloped bladder" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1855335 is_a: HP:0010476 ! Aplasia/Hypoplasia of the bladder [Term] id: HP:0005344 name: Abnormal carotid artery morphology def: "Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches." [] synonym: "Abnormality of the carotid arteries" EXACT [] xref: UMLS:C4025211 is_a: HP:0011004 ! Abnormal systemic arterial morphology created_by: peter creation_date: 2008-03-26T06:37:00Z [Term] id: HP:0005345 name: Abnormal vena cava morphology alt_id: HP:0030971 def: "An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava." [] synonym: "Abnormality of the vena cava" RELATED [] xref: UMLS:C4025210 is_a: HP:0002624 ! Abnormal venous morphology is_a: HP:0030962 ! Abnormal morphology of the great vessels created_by: peter creation_date: 2008-03-26T06:40:00Z [Term] id: HP:0005346 name: Abnormal facial expression synonym: "Abnormal facial expression" EXACT layperson [] xref: UMLS:C4025209 is_a: HP:0000271 ! Abnormality of the face created_by: peter creation_date: 2008-03-26T06:44:00Z [Term] id: HP:0005347 name: Cartilaginous trachea xref: UMLS:C1863363 is_a: HP:0002778 ! Abnormal trachea morphology [Term] id: HP:0005348 name: Inspiratory stridor def: "Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities." [HPO:curators] xref: SNOMEDCT_US:58596002 xref: UMLS:C0677600 is_a: HP:0010307 ! Stridor [Term] id: HP:0005349 name: Hypoplasia of the epiglottis alt_id: HP:0008746 def: "Hypoplasia of the epiglottis." [HPO:probinson] synonym: "Hypoplastic epiglottis" EXACT [] xref: UMLS:C1396772 is_a: HP:0010565 ! Aplasia/Hypoplasia of the Epiglottis [Term] id: HP:0005352 name: Severe T-cell immunodeficiency def: "A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms." [PMID:18755723] comment: Several diseases are classified as severe T cell immunodeficiencies: severe combined immunodeficiency syndrome (SCID), reticular dysgenesis, thymic dysplasia (Nezelof syndrome), combined immunodeficiency disease (CID), and Wiskott-Aldrich syndrome (WAS). synonym: "Severe T-cell immunodeficiency" EXACT layperson [] xref: UMLS:C4025208 is_a: HP:0005374 ! Cellular immunodeficiency [Term] id: HP:0005353 name: Recurrent herpes def: "Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus." [] synonym: "Susceptibility to herpesvirus" EXACT layperson [] xref: UMLS:C4025207 is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0005354 name: Lack of T cell function def: "Complete inability of T cells to perform their functions in cell-mediated immunity." [] synonym: "Absent cellular immunity" EXACT [] xref: UMLS:C1849426 is_a: HP:0011840 ! Abnormality of T cell physiology [Term] id: HP:0005356 name: Decreased serum complement factor I def: "A reduced level of the complement component Factor I in circulation." [https://emedicine.medscape.com/article/135478-overview] xref: UMLS:C1970257 is_a: HP:0004431 ! Complement deficiency [Term] id: HP:0005357 name: Defective B cell differentiation def: "Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity." [GO:0030183] xref: UMLS:C1859624 is_a: HP:0005384 ! Defective B cell activation [Term] id: HP:0005359 name: Aplasia of the thymus def: "Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination." [HPO:probinson] synonym: "Absent thymic shadow" RELATED [] synonym: "Absent thymus" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Athymia" EXACT [] synonym: "Lack of thymic shadow" RELATED [] xref: MSH:C536288 xref: SNOMEDCT_US:702623002 xref: SNOMEDCT_US:91918005 xref: UMLS:C0685894 is_a: HP:0010515 ! Aplasia/Hypoplasia of the thymus [Term] id: HP:0005360 name: Susceptibility to chickenpox def: "Increased susceptibility to chicken pox, as manifested by recurrent episodes of chicken pox." [] xref: UMLS:C1855205 is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0005363 name: Humoral immunodeficiency def: "A general term referring to a defect in immunity resulting from impaired antibody production." [] comment: If possible it is preferable to use a precise description of the observed manifestations leading to the inference of humoral immunodeficiency. xref: UMLS:C4025206 is_a: HP:0002721 ! Immunodeficiency [Term] id: HP:0005364 name: obsolete Severe viral infections is_obsolete: true replaced_by: HP:0004429 [Term] id: HP:0005365 name: Severe B lymphocytopenia alt_id: HP:0002856 def: "A severe form of B lymphocytopenia in which the count of B cells is very low or absent." [HPO:probinson] synonym: "Absence of B cells" RELATED [] synonym: "Absent B cells" EXACT [] xref: UMLS:C1863715 xref: UMLS:C4020824 is_a: HP:0010976 ! B lymphocytopenia [Term] id: HP:0005366 name: Recurrent streptococcus pneumoniae infections def: "Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae." [HPO:probinson] xref: UMLS:C2169794 is_a: HP:0002205 ! Recurrent respiratory infections is_a: HP:0020096 ! Recurrent streptococcal infections [Term] id: HP:0005368 name: Abnormality of humoral immunity def: "An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system." [HPO:probinson] synonym: "Defective humoral immunity" EXACT [] xref: UMLS:C3150510 is_a: HP:0010978 ! Abnormality of immune system physiology [Term] id: HP:0005369 name: Decreased serum complement factor H def: "A reduced level of the complement component Factor H in circulation." [https://emedicine.medscape.com/article/135478-overview] xref: UMLS:C1969222 is_a: HP:0004431 ! Complement deficiency [Term] id: HP:0005372 name: Abnormality of B cell physiology alt_id: HP:0005398 def: "An abnormality of the physiological functioning of B cells." [HPO:probinson] comment: This term refers to any abnormality of the B cells, which play a role in the humoral immune response. The main functions of B cells are to produce antibodies, to perform the role of antigen presenting cells, and to develop into memory cells. synonym: "Abnormality of B cell physiology" EXACT layperson [] synonym: "Reduced B cell function" EXACT layperson [] xref: UMLS:C1849242 is_a: HP:0031409 ! Abnormal lymphocyte physiology [Term] id: HP:0005374 name: Cellular immunodeficiency alt_id: HP:0005375 def: "An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity." [http://www.dictionary.com/browse/cellular-immunodeficiency] xref: UMLS:C1855204 is_a: HP:0002721 ! Immunodeficiency [Term] id: HP:0005375 name: obsolete Partial cellular immunodeficiency is_obsolete: true replaced_by: HP:0005374 [Term] id: HP:0005376 name: Recurrent Haemophilus influenzae infections def: "Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae." [HPO:probinson] synonym: "Recurrent H. influenzae infections" EXACT [] xref: UMLS:C4025204 is_a: HP:0005420 ! Recurrent gram-negative bacterial infections [Term] id: HP:0005379 name: obsolete Severe T lymphocytopenia is_obsolete: true consider: HP:0005403 [Term] id: HP:0005381 name: Recurrent meningococcal disease alt_id: HP:0005414 def: "Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus." [HPO:curators] synonym: "Increased susceptibility to neisseria meningitidis infections" EXACT layperson [] xref: UMLS:C1970263 is_a: HP:0005430 ! Recurrent Neisserial infections [Term] id: HP:0005384 name: Defective B cell activation def: "A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of" [GOC:mgi_curators, ISBN:0781735149] xref: UMLS:C1846551 is_a: HP:0005372 ! Abnormality of B cell physiology [Term] id: HP:0005386 name: Recurrent protozoan infections def: "Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection." [HPO:probinson] xref: UMLS:C4025202 is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0005387 name: Combined immunodeficiency def: "A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications." [PMID:23321211] xref: UMLS:C0494261 is_a: HP:0002721 ! Immunodeficiency [Term] id: HP:0005389 name: Depletion of components of the alternative complement pathway def: "An abnormal reduction in the components of the alternative complement pathway, such as the C3 protein or its cleavage products." [https://en.wikipedia.org/wiki/Alternative_complement_pathway] xref: UMLS:C1969220 is_a: HP:0005482 ! Abnormality of the alternative complement pathway [Term] id: HP:0005390 name: Recurrent opportunistic infections alt_id: HP:0005426 def: "Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system." [HPO:probinson] synonym: "Frequent opportunistic infections" EXACT [] xref: UMLS:C1832324 is_a: HP:0002719 ! Recurrent infections is_a: HP:0031690 ! Opportunistic infection [Term] id: HP:0005396 name: Susceptibility to coronavirus 229e def: "Increased susceptibility to coronavirus 229e, as manifested by recurrent episodes of coronavirus 229e." [] xref: UMLS:C1852539 is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0005397 name: obsolete Exaggerated cellular immune processes is_obsolete: true consider: HP:0011840 [Term] id: HP:0005400 name: Reduction of neutrophil motility def: "An abnormal reduction of the cell motility of neutrophils." [HPO:probinson] xref: UMLS:C4025201 is_a: HP:0011990 ! Abnormality of neutrophil physiology [Term] id: HP:0005401 name: Recurrent candida infections def: "An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections." [HPO:probinson] synonym: "Frequent candida infections" EXACT [] xref: UMLS:C1860128 is_a: HP:0002841 ! Recurrent fungal infections [Term] id: HP:0005402 name: obsolete Primary T-lymphocyte immune abnormalities is_obsolete: true replaced_by: HP:0011840 [Term] id: HP:0005403 name: Decrease in T cell count alt_id: HP:0005412 alt_id: HP:0045071 def: "An abnormally low count of T cells." [HPO:probinson] synonym: "Decrease in T cell number" EXACT [] synonym: "Decreased numbers of circulating T cells" EXACT [] synonym: "Low T cell count" EXACT layperson [] synonym: "Reduced number of T cells" EXACT layperson [] synonym: "T lymphocytopenia" EXACT [HPO:skoehler] xref: MSH:C536783 xref: UMLS:C2931322 is_a: HP:0001888 ! Lymphopenia [Term] id: HP:0005404 name: Increased B cell count def: "An abnormal increase from the normal count of B cells." [HPO:probinson] synonym: "Increase in B cell count" EXACT [] synonym: "Increase in B cell number" EXACT [] synonym: "Increased number of B cells" EXACT [] xref: UMLS:C1858972 is_a: HP:0010975 ! Abnormal B cell count is_a: HP:0100827 ! Lymphocytosis [Term] id: HP:0005406 name: Recurrent bacterial skin infections alt_id: HP:0000983 def: "Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis." [HPO:probinson] comment: Infectious dermatitis may manifest as impetigo, multiple purulent blisters, erythema, lymphadenopathy near the site of infection. synonym: "Recurrent bacterial skin infections" EXACT layperson [] synonym: "Recurrent cutaneous pyogenic infections" EXACT [] synonym: "Recurrent episodes of impetigo" EXACT [] synonym: "Recurrent episodes of infectious dermatitis" EXACT [] synonym: "Recurrent pyogenic skin infections" EXACT [] xref: UMLS:C1835686 is_a: HP:0001581 ! Recurrent skin infections is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005407 name: Decreased proportion of CD4-positive T cells alt_id: HP:0005480 def: "A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count." [HPO:probinson] synonym: "Abnormality of CD4+ T cells" EXACT [] synonym: "CD4 T cell lymphopenia" EXACT [] synonym: "CD4+ T-cell lymphopenia" EXACT [] xref: UMLS:C1839304 is_a: HP:0005403 ! Decrease in T cell count [Term] id: HP:0005409 name: obsolete Markedly reduced T cell function is_obsolete: true replaced_by: HP:0005435 [Term] id: HP:0005411 name: Chronic intestinal candidiasis def: "Persistent overgrowth of Candida albicans in the gastrointestinal tract." [HPO:probinson] synonym: "Candida overgrowth syndrome" RELATED [] xref: UMLS:C4020823 xref: UMLS:C4025199 is_a: HP:0002728 ! Chronic mucocutaneous candidiasis [Term] id: HP:0005413 name: Increased alpha-globulin def: "An abnormally increased level of circulationg alpha-globulin. Alpha globulins are a group of serum proteins defined by their mobility on serum electrophoresis. The alpha1-protein fraction is comprised of alpha1-antitrypsin, thyroid-binding globulin, and transcortin. Ceruloplasmin, alpha2-macroglobulin, and haptoglobin contribute to the alpha2-protein band. The alpha2 component is increased as an acute-phase reactant." [PMID:15663032] xref: SNOMEDCT_US:124022007 xref: UMLS:C1167806 is_a: HP:0032311 ! Increased circulating globulin level [Term] id: HP:0005415 name: Decreased proportion of CD8-positive T cells alt_id: HP:0005481 def: "A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells." [HPO:probinson] synonym: "CD8+ T-cell lymphopenia" EXACT [] synonym: "Decreased proportion of CD8+ T cells" EXACT [] xref: UMLS:C1839305 is_a: HP:0005403 ! Decrease in T cell count [Term] id: HP:0005416 name: Decreased serum complement factor B def: "A reduced level of the complement component factor B in circulation." [https://emedicine.medscape.com/article/135478-overview] synonym: "Decreased serum factor b" EXACT [] xref: UMLS:C4021636 is_a: HP:0004431 ! Complement deficiency [Term] id: HP:0005419 name: Decreased T cell activation alt_id: HP:0005370 alt_id: HP:0005436 def: "Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific." [ISBN:0781735149] synonym: "Decreased T lymphocyte activation" EXACT [] synonym: "Decreased T-cell activation" EXACT [] synonym: "Decreased T-lymphocyte activation" EXACT [] synonym: "Defective T cell activation" EXACT [] synonym: "Profound depletion of T4+ lymphocytes" EXACT [] xref: UMLS:C1846550 is_a: HP:0410035 ! Abnormal T cell activation [Term] id: HP:0005420 name: Recurrent gram-negative bacterial infections alt_id: HP:0005395 def: "Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents." [HPO:probinson] comment: Gram-negative bacteria have a unique outer membrane, a thinner layer of peptidoglycan compared to gram-positive bacteria, and a periplasmic space between the cell wall and the membrane. xref: UMLS:C4025198 is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005421 name: Decreased serum complement C3 alt_id: HP:0005408 def: "A reduced level of the complement component C3 in circulation." [https://emedicine.medscape.com/article/135478-overview] synonym: "Decreased serum C3" EXACT [] synonym: "Decreased serum complement C3 level" EXACT [] xref: UMLS:C1837512 is_a: HP:0004431 ! Complement deficiency [Term] id: HP:0005422 name: Absence of CD8-positive T cells def: "Lack of detectible CD8-positive T cells" [] synonym: "Absence of CD8+ T cells" EXACT [] xref: UMLS:C4025197 is_a: HP:0005415 ! Decreased proportion of CD8-positive T cells [Term] id: HP:0005423 name: Dysfunctional alternative complement pathway def: "An abnormality of the functioning of any aspect of the alternative complement pathway." [] xref: UMLS:C1839458 is_a: HP:0005482 ! Abnormality of the alternative complement pathway [Term] id: HP:0005424 name: Absent specific antibody response def: "Absence of specific immunoglobulins directed against a specific antigen or microorganism." [PMID:17100769] xref: UMLS:C1863246 is_a: HP:0005372 ! Abnormality of B cell physiology [Term] id: HP:0005425 name: Recurrent sinopulmonary infections def: "An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections." [HPO:probinson] synonym: "Chronic sinopulmonary infection" EXACT [] synonym: "Recurrent sinus and lung infections" EXACT layperson [ORCID:0000-0002-6548-5200] xref: UMLS:C1846546 is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0005428 name: Severe recurrent varicella xref: MSH:C563458 xref: UMLS:C1833487 is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0005429 name: Recurrent systemic pyogenic infections def: "Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections." [ORCID:0000-0001-7941-2961] xref: UMLS:C4025196 is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005430 name: Recurrent Neisserial infections alt_id: HP:0005377 alt_id: HP:0005378 def: "Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis)." [HPO:curators] synonym: "Episodes of neisserial infection" EXACT [] synonym: "Recurrent neisseria infections" EXACT [] xref: UMLS:C3151083 is_a: HP:0005420 ! Recurrent gram-negative bacterial infections [Term] id: HP:0005432 name: Transient hypogammaglobulinemia of infancy def: "At birth, newborns are endowed with maternal antibodies. IgG production normally begins at the age of two months. A delay in recovery from this physiological hypogammaglobulinemia between the 3rd and the 6th month of life, and of recovery period between 18 and 36 months defines transient newborn hypogammaglobulinemia." [HPO:probinson] synonym: "Newborn gammaglobulin deficiency" RELATED [] xref: SNOMEDCT_US:88714009 xref: UMLS:C0272238 xref: UMLS:C4020822 is_a: HP:0004313 ! Decreased antibody level in blood [Term] id: HP:0005435 name: Impaired T cell function alt_id: HP:0002844 alt_id: HP:0005373 alt_id: HP:0005383 alt_id: HP:0005409 def: "Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity." [ORCID:0000-0001-7941-2961] synonym: "Impaired T cell function" EXACT layperson [] synonym: "T-cell dysfunction" EXACT layperson [] xref: UMLS:C1860127 is_a: HP:0011840 ! Abnormality of T cell physiology [Term] id: HP:0005437 name: Recurrent infections in infancy and early childhood def: "Recurrent infections at an early age with improvement in later childhood." [HPO:probinson] xref: UMLS:C1844909 is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0005439 name: Maxillozygomatic hypoplasia def: "Hypoplasia of the maxillozygomatic complex." [HPO:probinson] synonym: "Decreased projection of zygomaticomaxillary bone complex" RELATED [ORCID:0000-0001-5889-4463] synonym: "Decreased size of zygomaticomaxillary bone complex" EXACT [ORCID:0000-0001-5889-4463] synonym: "Deficiency of zygomaticomaxillary bone complex" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypoplasia of malar bone complex" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypoplasia of zygomaticomaxillary complex" EXACT [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of zygomaticomaxillary bone complex" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1848908 xref: UMLS:C4280488 is_a: HP:0000327 ! Hypoplasia of the maxilla is_a: HP:0010669 ! Hypoplasia of the zygomatic bone [Term] id: HP:0005441 name: Sclerotic cranial sutures def: "An increased density in the cranial sutures following obliteration." [HPO:curators] xref: UMLS:C4025195 is_a: HP:0011329 ! Abnormality of cranial sutures [Term] id: HP:0005442 name: Widely patent coronal suture def: "The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed." [HPO:curators] xref: UMLS:C1856778 is_a: HP:0011329 ! Abnormality of cranial sutures [Term] id: HP:0005445 name: Widened posterior fossa xref: UMLS:C1855889 is_a: HP:0000932 ! Abnormality of the posterior cranial fossa [Term] id: HP:0005446 name: Obtuse angle of mandible def: "Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal." [HPO:probinson] comment: See pmid:17213440 Figure 1G for an example of an obtuse mandibular angle. synonym: "High mandibular plane angle" EXACT [ORCID:0000-0001-5889-4463] synonym: "Steep mandibular plane angle" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:709997007 xref: UMLS:C4038738 is_a: HP:0000277 ! Abnormality of the mandible [Term] id: HP:0005449 name: Bridged sella turcica xref: MSH:C566689 xref: UMLS:C1866959 is_a: HP:0002681 ! Deformed sella turcica [Term] id: HP:0005450 name: Calvarial osteosclerosis def: "An increase in bone density affecting the calvaria (roof of the skull)." [HPO:curators] xref: UMLS:C1855657 is_a: HP:0005464 ! Craniofacial osteosclerosis [Term] id: HP:0005451 name: Decreased cranial base ossification xref: UMLS:C1835442 is_a: HP:0004331 ! Decreased skull ossification [Term] id: HP:0005453 name: Absent/hypoplastic paranasal sinuses def: "Aplasia or hypoplasia of the paranasal sinuses." [HPO:probinson] subset: hposlim_core xref: UMLS:C1856639 is_a: HP:0009120 ! Aplasia/Hypoplasia involving the sinuses [Term] id: HP:0005456 name: Absent ethmoidal sinuses def: "Lack (aplasia) of the ethmoidal sinus." [HPO:probinson] synonym: "Agenesis of ethmoid sinuses" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of ethmoid sinuses" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing ethmoid sinuses" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025194 is_a: HP:0002689 ! Absent paranasal sinuses is_a: HP:3000040 ! Abnormality of ethmoid sinus [Term] id: HP:0005458 name: Premature closure of fontanelles def: "Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point." [DDD:awilkie, HPO:probinson] synonym: "Early closure of the bregma sutures" NARROW [ORCID:0000-0001-5889-4463] synonym: "Early closure of the cranial sutures" BROAD [ORCID:0000-0001-5889-4463] synonym: "Early closure of the fontanelles" EXACT [ORCID:0000-0001-5889-4463] synonym: "Obliterated fontanelles" EXACT [] synonym: "Premature closure of the bregma sutures" NARROW [ORCID:0000-0001-5889-4463] synonym: "Premature closure of the cranial sutures" BROAD [ORCID:0000-0001-5889-4463] xref: MSH:D003398 xref: SNOMEDCT_US:1667003 xref: SNOMEDCT_US:57219006 xref: UMLS:C0010278 xref: UMLS:C0277827 xref: UMLS:C4072853 is_a: HP:0011328 ! Abnormality of fontanelles [Term] id: HP:0005461 name: Craniofacial disproportion xref: UMLS:C1867114 is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0005462 name: Calcification of falx cerebri def: "The presence of calcium deposition in the falx cerebri." [HPO:probinson] xref: UMLS:C1397139 is_a: HP:0002514 ! Cerebral calcification is_a: HP:0010653 ! Abnormality of the falx cerebri [Term] id: HP:0005463 name: Elongated sella turcica xref: UMLS:C1863311 is_a: HP:0002681 ! Deformed sella turcica [Term] id: HP:0005464 name: Craniofacial osteosclerosis def: "Abnormally increased density of craniofacial bone tissue." [HPO:probinson] synonym: "Cranial sclerosis" RELATED [] xref: UMLS:C1845805 xref: UMLS:C4025193 is_a: HP:0011001 ! Increased bone mineral density is_a: HP:0011821 ! Abnormality of facial skeleton [Term] id: HP:0005465 name: Facial hyperostosis alt_id: HP:0008508 def: "Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton." [HPO:probinson] subset: hposlim_core synonym: "Enlargement of facial bones" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Enlargement of facial skeleton" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Enlargment of the facial bones" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Excessive growth of facial bones" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Excessive growth of facial skeleton" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Hyperostosis of facial bones" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hyperostosis of facial skeleton" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypertrophy of facial bones" BROAD [ORCID:0000-0001-5889-4463] synonym: "Hypertrophy of facial skeleton" BROAD [ORCID:0000-0001-5889-4463] synonym: "Hypertrophy of the facial bones" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increase in size of the facial bones" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased ossification of facial bones" RELATED [ORCID:0000-0001-5889-4463] synonym: "Increased ossification of facial skeleton" RELATED [ORCID:0000-0001-5889-4463] synonym: "Overgrowth of facial bones" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Overgrowth of facial skeleton" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Overgrowth of the facial bones" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1857501 xref: UMLS:C4280485 xref: UMLS:C4280486 xref: UMLS:C4280487 is_a: HP:0004493 ! Craniofacial hyperostosis [Term] id: HP:0005466 name: Hypoplasia of the frontal bone alt_id: HP:0005493 def: "Underdevelopment of the frontal bone." [HPO:probinson] synonym: "Decreased size of bone of forehead" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Hypoplastic frontal bones" EXACT [] synonym: "Hypotrophic frontal bone" RELATED [ORCID:0000-0001-5889-4463] synonym: "Hypotrophic frontal bones" RELATED [ORCID:0000-0001-5889-4463] synonym: "Small bone of forehead" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Thin bone of forehead" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of bone of forehead" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1845147 xref: UMLS:C4280483 xref: UMLS:C4280484 is_a: HP:0002692 ! Hypoplastic facial bones is_a: HP:0011218 ! Abnormal shape of the frontal region [Term] id: HP:0005469 name: Flat occiput alt_id: HP:0000247 alt_id: HP:0000249 def: "Reduced convexity of the occiput (posterior part of skull)." [pmid:19125436] comment: Reduced convexity of the occiput gives an appearance of flattening. There are no objective measures for convexity of the occiput, and evaluation depends heavily on the experience of the observer. This finding may or may not be accompanied by Brachycephaly (which should be coded separately), and may be observed more frequently when an infant is placed to sleep on his/her back. Occipital plagiocephaly can result from fusion or sclerosis of the lambdoid suture. If unilateral, this is accompanied by unilateral occipital flattening and bulging of the ispilateral frontal bone. subset: hposlim_core synonym: "Flat back of skull" BROAD layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Flat back of the head" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Flat back of the skull" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Flat posterior cranium" EXACT [ORCID:0000-0001-5889-4463] synonym: "Flat posterior head" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Posterior flattening of the skull" EXACT [] xref: UMLS:C1837402 xref: UMLS:C4280482 is_a: HP:0011217 ! Abnormal shape of the occiput [Term] id: HP:0005472 name: Orbital craniosynostosis xref: UMLS:C4025192 is_a: HP:0001363 ! Craniosynostosis is_a: HP:3000030 ! Abnormality of bony orbit of skull [Term] id: HP:0005473 name: Fusion of middle ear ossicles def: "Bony fusion of malleus, incus, and stapes." [HPO:probinson] xref: UMLS:C1862068 is_a: HP:0004452 ! Abnormality of the middle ear ossicles is_a: HP:0100240 ! Synostosis of joints [Term] id: HP:0005474 name: Decreased calvarial ossification alt_id: HP:0002701 alt_id: HP:0002702 alt_id: HP:0005454 alt_id: HP:0005471 def: "Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone)." [DDD:awilkie, HPO:probinson] synonym: "Poorly ossified calvaria" EXACT [] synonym: "Poorly ossified calvarium" EXACT [] synonym: "Skull soft on palpation" RELATED [] synonym: "Soft calvaria" EXACT [] synonym: "Soft skullcap" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Undermineralized calvarium" EXACT [] xref: UMLS:C1833762 is_a: HP:0002683 ! Abnormality of the calvaria is_a: HP:0004331 ! Decreased skull ossification [Term] id: HP:0005476 name: Widely patent sagittal suture def: "The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed." [HPO:curators] xref: UMLS:C1856779 is_a: HP:0011329 ! Abnormality of cranial sutures [Term] id: HP:0005477 name: Progressive sclerosis of skull base def: "Progressively increasing bone density of the skull base without significant changes in bony contour." [HPO:probinson] xref: UMLS:C1835470 is_a: HP:0002694 ! Sclerosis of skull base [Term] id: HP:0005478 name: Prominent frontal sinuses synonym: "Hyperplasia of frontal sinus" RELATED [ORCID:0000-0001-5889-4463] synonym: "Hypertrophy of frontal sinus" RELATED [ORCID:0000-0001-5889-4463] synonym: "Increased size of frontal sinus" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Increased volume of frontal sinus" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Large frontal sinus" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1969404 xref: UMLS:C4280265 xref: UMLS:C4280479 xref: UMLS:C4280480 xref: UMLS:C4280481 is_a: HP:0002687 ! Abnormality of frontal sinus [Term] id: HP:0005479 name: Decreased circulating total IgE alt_id: HP:0002854 def: "An abnormally decreased level of immunoglobulin E (IgE) in blood." [HPO:probinson] synonym: "Decreased IgE" EXACT [] synonym: "IgE deficiency" EXACT [] xref: UMLS:C0860904 is_a: HP:0004313 ! Decreased antibody level in blood is_a: HP:0410241 ! Abnormal IgE level created_by: peter creation_date: 2008-03-26T08:03:00Z [Term] id: HP:0005482 name: Abnormality of the alternative complement pathway def: "A deviation in any aspect of the alternative complement pathway." [] comment: The alternative complement pathway is one of three complement pathways, which is an innate component of the immune system's natural defense against infections. The alternative complement pathway has three unique components, factor B, factor D, and properdin. {xref="PMID:16424154"} xref: UMLS:C4025191 is_a: HP:0005339 ! Abnormality of complement system created_by: peter creation_date: 2008-03-26T08:12:00Z [Term] id: HP:0005483 name: Abnormal epiglottis morphology def: "An abnormality of the epiglottis." [HPO:probinson] synonym: "Abnormality of the epiglottis" EXACT [] xref: UMLS:C4025190 is_a: HP:0025423 ! Abnormal larynx morphology created_by: peter creation_date: 2008-03-26T08:25:00Z [Term] id: HP:0005484 name: Postnatal microcephaly alt_id: HP:0000241 alt_id: HP:0000259 alt_id: HP:0005499 def: "Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth." [HPO:probinson] synonym: "Acquired microcephaly" EXACT [ORCID:0000-0001-5889-4463] synonym: "Deceleration of head growth" EXACT [] synonym: "Development of small head that was not present at birth" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Microcephaly, acquired" EXACT [] synonym: "Microcephaly, postnatal" EXACT [] synonym: "Postnatal deceleration of head circumference" EXACT [] synonym: "Secondary microcephaly" EXACT [] xref: UMLS:C1847514 is_a: HP:0000252 ! Microcephaly [Term] id: HP:0005486 name: Small fontanelle def: "A fontanelle that is small for age." [HPO:probinson, pmid:12825844] subset: hposlim_core synonym: "Little cranial sutures" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Little fontanelle" EXACT [ORCID:0000-0001-5889-4463] synonym: "Microfontanelle" EXACT [ORCID:0000-0001-5889-4463] synonym: "Small bregma sutures" NARROW [ORCID:0000-0001-5889-4463] synonym: "Small cranial sutures" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Small soft spot" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:276710001 xref: UMLS:C0456133 xref: UMLS:C4072854 xref: UMLS:C4072855 is_a: HP:0011328 ! Abnormality of fontanelles [Term] id: HP:0005487 name: Prominent metopic ridge alt_id: HP:0005488 alt_id: HP:0005751 def: "Vertical bony ridge positioned in the midline of the forehead." [HPO:probinson, pmid:19125436] comment: The ridge may extend from the hairline to the glabella or may be partial. The frontal suture of the skull is a dense connective tissue structure that divides the two halves of the frontal bone of the skull in infants and children and usually undergoes closure by the age of six years. A persistent frontal suture is known as a metopic suture or sutura frontalis persistens. This can lead to a ridged appearance of the forehead. subset: hposlim_core synonym: "Prominent frontal ridge" EXACT [ORCID:0000-0001-5889-4463] synonym: "Prominent frontal suture" NARROW [ORCID:0000-0001-5889-4463] synonym: "Prominent metopic suture" EXACT [ORCID:0000-0001-5889-4463] synonym: "Ridging of frontal suture" NARROW [ORCID:0000-0001-5889-4463] synonym: "Ridging of metopic suture" EXACT [] xref: UMLS:C1857949 is_a: HP:0005556 ! Abnormality of the metopic suture [Term] id: HP:0005490 name: Postnatal macrocephaly def: "The postnatal development of an abnormally large skull (macrocephaly)." [HPO:probinson] synonym: "Macrocephaly, postnatal" EXACT [] xref: UMLS:C1854417 is_a: HP:0000256 ! Macrocephaly [Term] id: HP:0005494 name: Premature posterior fontanelle closure xref: UMLS:C1839126 is_a: HP:0005458 ! Premature closure of fontanelles [Term] id: HP:0005495 name: Metopic suture patent to nasal root def: "The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root." [HPO:probinson, pmid:11711818] comment: This feature is a characteristic of Schinzel-Giedion midface retraction syndrome. xref: UMLS:C4025189 is_a: HP:0005556 ! Abnormality of the metopic suture [Term] id: HP:0005498 name: Midline skin dimples over anterior/posterior fontanelles xref: UMLS:C1855690 is_a: HP:0000236 ! Abnormality of the anterior fontanelle [Term] id: HP:0005502 name: Increased red cell osmotic fragility synonym: "Increased erythrocyte osmotic fragility" EXACT [] synonym: "Increased red cell fragility" EXACT [] xref: UMLS:C1849478 is_a: HP:0020054 ! Abnormal erythrocyte physiology [Term] id: HP:0005505 name: Refractory anemia xref: MSH:D000753 xref: SNOMEDCT_US:128845005 xref: UMLS:C0002893 is_a: HP:0001903 ! Anemia [Term] id: HP:0005506 name: Chronic myelogenous leukemia alt_id: HP:0005544 def: "A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate." [HPO:probinson] synonym: "Chronic myelocytic leukemia" EXACT [] synonym: "Chronic myeloid leukemia" EXACT [] xref: DOID:8552 "chronic myeloid leukemia" xref: MSH:D015464 xref: SNOMEDCT_US:63364005 xref: SNOMEDCT_US:92818009 xref: UMLS:C0023473 is_a: HP:0005558 ! Chronic leukemia [Term] id: HP:0005507 name: Hemoglobin Barts def: "Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues." [HPO:probinson] comment: Hb Bart is normally not present in adult blood. It makes up about 85-90 percent of hemoglobin in Hb Bart hydrops fetalis syndrome, and about 2-5 percent in HbH disease. synonym: "Hb Barts" EXACT HP:0045077 [] xref: UMLS:C3539063 is_a: HP:0011902 ! Abnormal hemoglobin [Term] id: HP:0005508 name: Monoclonal immunoglobulin M proteinemia def: "Presence of a monoclonal immunoglobulin M protein in the serum." [HPO:probinson, PMID:25815903] comment: This is a characteristic feature of Waldenstrom macroglobulinemia (WM), which is defined as a B-cell lymphoplasmacytic lymphoma, characterized by monoclonal immunoglobulin M protein in the serum and infiltration of bone marrow with lymphoplasmacytic cells. synonym: "Waldenstrom macroglobulinemia" RELATED [] xref: MSH:D008258 xref: SNOMEDCT_US:190817009 xref: SNOMEDCT_US:190818004 xref: SNOMEDCT_US:35562000 xref: UMLS:C0024419 is_a: HP:0003496 ! Increased circulating IgM level is_a: HP:0005523 ! Lymphoproliferative disorder is_a: HP:0031047 ! Paraproteinemia [Term] id: HP:0005510 name: Transient erythroblastopenia def: "A transient reduction in the number of erythroblasts in the circulation." [HPO:probinson] comment: An erythroblast, the immediate precursor of a normal erythrocyte which, still retains a cell nucleus. synonym: "Transient decrease in blood erythrocyte number" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4082199 is_a: HP:0001903 ! Anemia [Term] id: HP:0005511 name: Heinz body anemia def: "Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells." [HPO:probinson] xref: MSH:C563030 xref: UMLS:C0700299 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0005512 name: Impaired neutrophil killing of staphylococci def: "A reduction in the ability of neutrophils to kill the gram-positive bacteria, staphylococcus, which is commonly known as staph." [https://en.wikipedia.org/wiki/Staphylococcus_aureus] xref: UMLS:C4025188 is_a: HP:0011993 ! Impaired neutrophil bactericidal activity [Term] id: HP:0005513 name: Increased megakaryocyte count def: "Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow." [HPO:probinson] xref: UMLS:C4025187 is_a: HP:0012143 ! Abnormal megakaryocyte morphology [Term] id: HP:0005517 name: T-cell lymphoma/leukemia def: "A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas." [HPO:probinson] comment: T-cell lymphoma/leukemia is linked to infection by the human T-cell lymphotropic virus 1 (HTLV-1). xref: UMLS:C4025186 is_a: HP:0012190 ! T-cell lymphoma [Term] id: HP:0005518 name: Increased mean corpuscular volume alt_id: HP:0005536 def: "Larger than normal size of erythrocytes." [HPO:probinson] comment: Macrocytosis refers to a mean cell volume (MCV) greater than 100 fL. If macrocytosis is an isolated abnormality, the amount of hemoglobin in the cell increases proportionately, so the mean cell hemoglobin concentration (MCHC) remains within normal limits. synonym: "Erythrocyte macrocytosis" EXACT [] synonym: "Increased MCV" EXACT HP:0045077 [] xref: UMLS:C0855791 is_a: HP:0025065 ! Abnormal mean corpuscular volume [Term] id: HP:0005520 name: Chronic disseminated intravascular coagulation def: "A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced." [HPO:probinson] synonym: "Chronic consumption coagulopathy" EXACT [] synonym: "Compensated disseminated intravascular coagulation" EXACT [] xref: UMLS:C1862184 is_a: HP:0005521 ! Disseminated intravascular coagulation [Term] id: HP:0005521 name: Disseminated intravascular coagulation def: "Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels." [HPO:probinson, pmid:10451465, pmid:11816725] comment: DIC is a complex syndrome in which there is pathological generation of thrombin and diffuse intravascular clot formation. DIC may occur as acute decompensated or chronic compensated form. In acute decompensated DIC, there is a sudden massive exposure of tissue factor over a brief time period; Intravascular coagulation can also compromise the blood supply to organs and, in conjunction with hemodynamic and metabolic derangements, may contribute to the failure of multiple organs. At the same time, the use and subsequent depletion of platelets and coagulation proteins resulting from the ongoing coagulation may induce severe bleeding. Chronic DIC, also known as compensated DIC, results from a persistent weak or intermittent activating stimulus. Under such conditions, destruction and production of coagulation factors and platelets are balanced. xref: MSH:D004211 xref: SNOMEDCT_US:67406007 xref: UMLS:C0012739 is_a: HP:0001977 ! Abnormal thrombosis [Term] id: HP:0005522 name: Pyridoxine-responsive sideroblastic anemia def: "A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment." [HPO:probinson] xref: SNOMEDCT_US:191260004 xref: SNOMEDCT_US:25443007 xref: UMLS:C0272027 is_a: HP:0001924 ! Sideroblastic anemia [Term] id: HP:0005523 name: Lymphoproliferative disorder synonym: "Lymphoproliferative disorders" RELATED [HPO:skoehler] xref: MSH:D008232 xref: SNOMEDCT_US:277466009 xref: SNOMEDCT_US:414629003 xref: SNOMEDCT_US:77121009 xref: SNOMEDCT_US:84631004 xref: UMLS:C0024314 is_a: HP:0004377 ! Hematological neoplasm [Term] id: HP:0005524 name: Macrocytic hemolytic disease xref: UMLS:C4025185 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0005525 name: Spontaneous hemolytic crises xref: UMLS:C4025184 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0005526 name: Lymphoid leukemia def: "A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias." [NCIT:C7539] xref: MSH:D007945 xref: SNOMEDCT_US:188725004 xref: SNOMEDCT_US:32280000 xref: UMLS:C0023448 is_a: HP:0001909 ! Leukemia [Term] id: HP:0005527 name: Reduced kininogen activity alt_id: HP:0004867 alt_id: HP:0005500 alt_id: HP:0005530 alt_id: HP:0005538 def: "Reduction in the amount of kininogen, which functions as a cofactor in the contact phase of the intrinsic blood coagulation cascade." [DDD:wouwehand, HPO:probinson] comment: Kininogen is cleaved into the following 6 chains: 1) Kininogen-1 heavy chain; 2) T-kinin; 3) Bradykinin; 4) Lysyl-bradykinin; 5) Kininogen-1 light chain; and 6) Low molecular weight growth-promoting factor. synonym: "Fitzgerald factor deficiency" EXACT [] synonym: "Kininogen deficiency" EXACT [] synonym: "Williams factor deficiency" EXACT [] synonym: "Williams-Fitzgerald-Flaujeac factor deficiency" EXACT [] xref: MSH:C537060 xref: SNOMEDCT_US:27312002 xref: UMLS:C0272340 is_a: HP:0005559 ! Abnormality of the kinin-kallikrein system is_a: HP:0010989 ! Abnormality of the intrinsic pathway [Term] id: HP:0005528 name: Bone marrow hypocellularity alt_id: HP:0005529 alt_id: HP:0100549 def: "A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat." [DDD:wouwehand, HPO:probinson] synonym: "Bone marrow failure" EXACT layperson [] synonym: "Bone marrow hypoplasia" EXACT [] synonym: "Hypoplastic bone marrow" EXACT [] xref: UMLS:C1855710 is_a: HP:0012145 ! Abnormality of multiple cell lineages in the bone marrow [Term] id: HP:0005531 name: Biphenotypic acute leukaemia def: "A type of actue leukemia with features characteristic of both the myeloid and lymphoid lineages. These leukemias are for this reason are designated mixed-lineage, hybrid or biphenotypic acute leukemias." [HPO:probinson, pmid:9107085] synonym: "Acute biphenotypic leukemia" EXACT [] synonym: "Myeloid/lymphoid leukemia" EXACT [] xref: MSH:D015456 xref: SNOMEDCT_US:128818009 xref: SNOMEDCT_US:278453007 xref: UMLS:C0023464 is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0005532 name: Macrocytic dyserythropoietic anemia xref: UMLS:C4025183 is_a: HP:0001972 ! Macrocytic anemia [Term] id: HP:0005534 name: Transient myeloproliferative syndrome def: "A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts." [PMID:22966823] synonym: "TMD" EXACT HP:0045077 [] synonym: "Transient leukemia of Down syndrome" EXACT [] synonym: "Transient myeloproliferative disorder" EXACT [] xref: MSH:C563551 xref: SNOMEDCT_US:450934005 xref: UMLS:C1834582 is_a: HP:0005547 ! Myeloproliferative disorder [Term] id: HP:0005535 name: Exercise-induced hemolysis def: "A form of hemolytic anemia that can be triggered by exertion." [HPO:probinson] xref: UMLS:C4025182 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0005537 name: Decreased mean platelet volume alt_id: HP:0001938 def: "Average platelet volume below the lower limit of the normal reference interval." [DDD:wouwehand] comment: Mean platelet volume (MPV) is a measure of the average size of platelets, with a typical reference range of 7.5 to 11.5 femtoliters (fL). synonym: "Small platelet size" EXACT layperson [] synonym: "Small platelets" EXACT layperson [] synonym: "Small platelets size" EXACT layperson [] xref: UMLS:C1096368 xref: UMLS:C1833182 is_a: HP:0011876 ! Abnormal platelet volume [Term] id: HP:0005539 name: T cell chronic lymphocytic lymphoma/leukemia def: "A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent." [ISBN:9780721600406] xref: UMLS:C4025181 is_a: HP:0005526 ! Lymphoid leukemia [Term] id: HP:0005540 name: Red blood cell keratocytosis def: "A form of poikilocytosis in which the abnormally shaped erythrocytes have notches that results in projections that look like horns." [HPO:probinson] comment: Kerato- is derived from the Greek word for horn. synonym: "Distorted red blood cells resembling keratocytes" EXACT [] synonym: "RBC keratocytosis" EXACT HP:0045077 [] xref: UMLS:C4021635 is_a: HP:0004447 ! Poikilocytosis [Term] id: HP:0005541 name: Congenital agranulocytosis def: "Congenital onset of a marked decrease in the number of granulocytes." [HPO:probinson] xref: MSH:C537592 xref: SNOMEDCT_US:89655007 xref: UMLS:C1853118 is_a: HP:0012234 ! Agranulocytosis [Term] id: HP:0005542 name: Prolonged whole-blood clotting time alt_id: HP:0003229 def: "An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot." [HPO:probinson] synonym: "Prolonged clotting time" EXACT [] xref: UMLS:C0151563 is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0005543 name: Reduced protein C activity def: "An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va." [HPO:probinson] comment: Protein C can function as an anticoagulant by irreversibly proteolytically inactivating Factor Va and Factor VIIIa. Therefore, a defect in protein C is associated with an increased risk of thrombosis. synonym: "Protein C deficiency" EXACT [] xref: MSH:D020151 xref: SNOMEDCT_US:76407009 xref: UMLS:C0398625 is_a: HP:0030780 ! Abnormality of the protein C anticoagulant pathway [Term] id: HP:0005546 name: Increased red cell osmotic resistance xref: UMLS:C1858628 is_a: HP:0020054 ! Abnormal erythrocyte physiology [Term] id: HP:0005547 name: Myeloproliferative disorder def: "Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential." [HPO:probinson] comment: There are four main myeloproliferative disroders, 1) chronic myelogenous leukemia (CML); 2) Polycythemia vera; 3) Essential thrombocytosis; and 4) Myelofibrosis. xref: MSH:D009196 xref: SNOMEDCT_US:414794006 xref: SNOMEDCT_US:425333006 xref: UMLS:C0027022 is_a: HP:0001909 ! Leukemia [Term] id: HP:0005548 name: Megakaryocytopenia def: "A reduced count of megakaryocytes." [HPO:probinson] comment: Megakaryocytes are giant cells in the bone marrow. Mature blood platelets are released from the cytoplasm of megakaryocytes. xref: UMLS:C1858312 is_a: HP:0012143 ! Abnormal megakaryocyte morphology [Term] id: HP:0005549 name: obsolete Congenital neutropenia def: "A form of neutropenia with congenital onset." [HPO:probinson] comment: This term was obsoleted - for annotation of congenital neutropenia, please use the class HP_0001875 Neutropenia and the Modifier Congenital Onset. synonym: "Low blood neutrophil level since birth" EXACT [ORCID:0000-0001-5208-3432] xref: MSH:C537592 xref: SNOMEDCT_US:89655007 xref: UMLS:C1853118 is_obsolete: true consider: HP:0001875 [Term] id: HP:0005550 name: Chronic lymphatic leukemia alt_id: HP:0006734 alt_id: HP:0006760 def: "A chronic lymphocytic/lymphatic/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias." [HPO:curators] synonym: "Chronic lymphocytic leukemia" EXACT [] xref: MSH:D015451 xref: SNOMEDCT_US:277473004 xref: SNOMEDCT_US:51092000 xref: SNOMEDCT_US:92814006 xref: UMLS:C0023434 is_a: HP:0005558 ! Chronic leukemia [Term] id: HP:0005556 name: Abnormality of the metopic suture def: "The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a \"metopic suture\"." [HPO:curators] xref: UMLS:C4025180 is_a: HP:0000290 ! Abnormality of the forehead is_a: HP:0011329 ! Abnormality of cranial sutures created_by: peter creation_date: 2008-03-27T10:04:00Z [Term] id: HP:0005557 name: Abnormality of the zygomatic arch def: "An abnormality of the zygomatic arch, also known as the cheek bone." [HPO:probinson] comment: The zygomatic arch is formed by the zygomatic process of temporal bone and the temporal process of the zygomatic bone. synonym: "Abnormality of the malar arch" EXACT [ORCID:0000-0001-5889-4463] synonym: "Anomaly of the malar arch" NARROW [ORCID:0000-0001-5889-4463] synonym: "Anomaly of the zygomatic arch" NARROW [ORCID:0000-0001-5889-4463] synonym: "Deformity of the malar arch" NARROW [ORCID:0000-0001-5889-4463] synonym: "Deformity of the zygomatic arch" NARROW [ORCID:0000-0001-5889-4463] synonym: "Malformation of the malar arch" NARROW [ORCID:0000-0001-5889-4463] synonym: "Malformation of the zygomatic arch" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4025179 is_a: HP:0010668 ! Abnormality of the zygomatic bone created_by: peter creation_date: 2008-03-27T10:20:00Z [Term] id: HP:0005558 name: Chronic leukemia def: "A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia." [NCIT:C3483] synonym: "Chronic blood cancer" BROAD layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:128933000 xref: SNOMEDCT_US:92812005 xref: UMLS:C1279296 xref: UMLS:C4280478 is_a: HP:0001909 ! Leukemia created_by: peter creation_date: 2008-03-27T10:32:00Z [Term] id: HP:0005559 name: Abnormality of the kinin-kallikrein system xref: UMLS:C4025178 is_a: HP:0010876 ! Abnormal circulating protein level created_by: peter creation_date: 2008-03-27T10:34:00Z [Term] id: HP:0005560 name: Imbalanced hemoglobin synthesis def: "Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia." [HPO:probinson] comment: While imbalanced hemoglobin synthesis can be inferred from other findings including those of hemoglobin electrophoresis, the determination of this feature requires investigation of hemoglobin synthesis in vitro, e.g., by incubation of washed peripheral blood erythrocytes and bone marrow cells with radioactively labeled leucine followed by column chromatography. synonym: "Imbalanced Hb synthesis" EXACT HP:0045077 [] xref: UMLS:C4025177 is_a: HP:0011902 ! Abnormal hemoglobin created_by: peter creation_date: 2008-03-27T10:44:00Z [Term] id: HP:0005561 name: Abnormality of bone marrow cell morphology def: "An anomaly of the form or number of cells in the bone marrow." [DDD:wouwehand, HPO:probinson] synonym: "Anomaly of the bone marrow cells" EXACT [] synonym: "Bone marrow disease" RELATED layperson [] xref: MSH:D001855 xref: SNOMEDCT_US:127035006 xref: UMLS:C0005956 xref: UMLS:C4021634 is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues created_by: peter creation_date: 2008-03-27T10:46:00Z [Term] id: HP:0005562 name: Multiple renal cysts def: "The presence of many cysts in the kidney." [Eurenomics:ewuehl] synonym: "Multiple kidney cysts" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:253883006 xref: UMLS:C0431718 is_a: HP:0000107 ! Renal cyst [Term] id: HP:0005563 name: Decreased numbers of nephrons def: "A reduction in the count of nephrons per kidney." [Eurenomics:ewuehl] synonym: "Decreased numbers of glomeruli" RELATED [] synonym: "Oligonephronia" EXACT [] xref: UMLS:C1841994 xref: UMLS:C2673888 is_a: HP:0012575 ! Abnormal nephron morphology [Term] id: HP:0005564 name: Absence of renal corticomedullary differentiation alt_id: HP:0005581 def: "A lack of differentiation between renal cortex and medulla on diagnostic imaging." [HPO:probinson] synonym: "Absent renal corticomedullary differentiation" EXACT [] synonym: "Loss of corticomedullary differentiation" EXACT [] xref: UMLS:C1849765 is_a: HP:0005932 ! Abnormal renal corticomedullary differentiation [Term] id: HP:0005565 name: Reduced renal corticomedullary differentiation alt_id: HP:0005573 def: "Reduced differentiation between renal cortex and medulla on diagnostic imaging." [HPO:probinson] synonym: "Loss of definition of corticomedullary differentiation" EXACT [] xref: UMLS:C3807131 is_a: HP:0005932 ! Abnormal renal corticomedullary differentiation [Term] id: HP:0005567 name: Renal magnesium wasting def: "High urine magnesium in the presence of hypomagnesemia." [Eurenomics:ewuehl] xref: MSH:C537152 xref: UMLS:C1835171 is_a: HP:0012607 ! Abnormal urine magnesium concentration [Term] id: HP:0005571 name: Increased renal tubular phosphate reabsorption synonym: "Increased percent tubular reabsorption of phosphorus" EXACT [] xref: UMLS:C1968910 is_a: HP:0011038 ! Abnormality of renal resorption [Term] id: HP:0005572 name: Decreased renal tubular phosphate excretion xref: UMLS:C1968899 is_a: HP:0011036 ! Abnormality of renal excretion [Term] id: HP:0005574 name: Non-acidotic proximal tubulopathy def: "A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss." [HPO:probinson] xref: UMLS:C4025176 is_a: HP:0000114 ! Proximal tubulopathy [Term] id: HP:0005575 name: Hemolytic-uremic syndrome synonym: "Hemolytic uremic syndrome" EXACT [] xref: MSH:D006463 xref: SNOMEDCT_US:111407006 xref: UMLS:C0019061 is_a: HP:0012211 ! Abnormal renal physiology [Term] id: HP:0005576 name: Tubulointerstitial fibrosis alt_id: HP:0000129 alt_id: HP:0004714 alt_id: HP:0008171 def: "A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney." [HPO:probinson, pmid:19144691] comment: This finding is usually shown by renal biopsy. Fibrosis involves an excess accumulation of extracellular matrix and usually results in loss of function when normal tissue is replaced with scar tissue. Tubulointerstitial renal fibrosis, characterized as a progressive detrimental connective tissue deposition on the kidney parenchyma, appears to be a harmful process leading inevitably to renal function deterioration, independently of the primary renal disease which causes the original kidney injury. Epithelial to Mesenchymal Transition (EMT) of tubular epithelial cells which are transformed to mesenchymal fibroblasts migrating to adjacent interstitial parenchyma constitutes the principal mechanism of renal fibrosis along with local and circulating cells. (PMID:20011086) synonym: "Renal interstitial fibrosis" EXACT [] synonym: "Tubulointerstitial renal fibrosis" EXACT [] synonym: "Tubulointerstitial scarring" RELATED [] xref: UMLS:C1969372 is_a: HP:0001969 ! Tubulointerstitial abnormality is_a: HP:0030760 ! Renal fibrosis [Term] id: HP:0005579 name: Impaired reabsorption of chloride def: "Any impairment of reabsorption of chloride by the kidney in order to not lose too much chloride in the urine." [PMID:25820368] synonym: "Impaired reabsorption of Cl" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] synonym: "Impaired reabsorption of Cl-" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] xref: UMLS:C1846349 is_a: HP:0011038 ! Abnormality of renal resorption [Term] id: HP:0005580 name: Duplication of renal pelvis def: "A duplication of the renal pelvis." [HPO:probinson] xref: UMLS:C1839269 is_a: HP:0000075 ! Renal duplication is_a: HP:0010944 ! Abnormal renal pelvis morphology [Term] id: HP:0005583 name: Tubular basement membrane disintegration alt_id: HP:0005577 def: "DIsruption and breaking up of the basement membrane of the tubules of the kidney." [HPO:probinson] comment: Throughout the rest of the nephron, tubule epithelial cells are attached to the tubular basement membrane that overlies the subjacent interstitial connective tissue. The disruption of cell-basement membrane adhesion results in loss of cell orientation, abnormal cell function, and can lead to tissue destruction. synonym: "Disintegration of the tubular basement membrane" EXACT [] xref: UMLS:C1968618 is_a: HP:0000091 ! Abnormal renal tubule morphology [Term] id: HP:0005584 name: Renal cell carcinoma alt_id: HP:0006720 def: "A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule." [HPO:probinson] comment: Renal cell carcinoma (also known as hypernephroma) is the most common form of kidney cancer arising from the proximal renal tubule. The tissue of origin for renal cell carcinoma is the proximal renal tubular epithelium. Renal cell carcinoma can be classified as 1) clear cell carcinoma, 2) papillary carcinoma, 3) chromophobe renal carcinoma, and 4) collecting duct carcinoma. synonym: "Cancer starting in small tubes in kidneys" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Hypernephroma" EXACT [] synonym: "Renal carcinoma" EXACT [] xref: MSH:D002292 xref: NCIT:C2916 xref: SNOMEDCT_US:41607009 xref: SNOMEDCT_US:702391001 xref: UMLS:C0007134 is_a: HP:0009726 ! Renal neoplasm [Term] id: HP:0005585 name: Spotty hyperpigmentation synonym: "Patchy depigmentation" EXACT [] synonym: "Patchy hyperpigmentation" EXACT [] synonym: "Spotty increased pigmentation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3806179 is_a: HP:0007400 ! Irregular hyperpigmentation [Term] id: HP:0005586 name: Hyperpigmentation in sun-exposed areas synonym: "Hyperpigmentation of exposed areas" EXACT [] synonym: "Increased pigmentation in sun-exposed areas" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3805877 is_a: HP:0000953 ! Hyperpigmentation of the skin [Term] id: HP:0005587 name: Profuse pigmented skin lesions xref: UMLS:C1834424 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0005588 name: Patchy palmoplantar keratoderma def: "A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected." [HPO:probinson] comment: Patchy palmoplantar keratoderma may develop at sites of recurrent friction. synonym: "Palmoplantar keratoderma, patchy" EXACT [] xref: UMLS:C4021633 is_a: HP:0000982 ! Palmoplantar keratoderma [Term] id: HP:0005590 name: Spotty hypopigmentation synonym: "Patchy hypopigmentation" EXACT layperson [] synonym: "Spotty decreased pigmentation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3806178 is_a: HP:0001053 ! Hypopigmented skin patches [Term] id: HP:0005592 name: Giant melanosomes in melanocytes alt_id: HP:0003342 def: "The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes." [HPO:probinson] comment: Giant melanosomes can be seen in cafe-au-lait spots and other melanocytic disorders. Giant melanosome and giant melanosome are synonymous. Macromelanosomes can be detected by electron microscopy of the skin. synonym: "Macromelanosomes" EXACT [] xref: UMLS:C3806221 is_a: HP:0011125 ! Abnormality of dermal melanosomes [Term] id: HP:0005593 name: Macular hypopigmented whorls, streaks, and patches xref: UMLS:C3806616 is_a: HP:0001053 ! Hypopigmented skin patches [Term] id: HP:0005595 name: Generalized hyperkeratosis synonym: "Hyperkeratosis, generalized" EXACT [] xref: UMLS:C1969913 is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0005597 name: Congenital alopecia totalis def: "Loss of all scalp hair with congenital onset." [HPO:probinson] xref: UMLS:C4025175 is_a: HP:0007418 ! Alopecia totalis [Term] id: HP:0005598 name: Facial telangiectasia in butterfly midface distribution def: "Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution." [HPO:curators] synonym: "Butterfly facial telangiectasia" EXACT [] xref: UMLS:C4021632 is_a: HP:0007380 ! Facial telangiectasia [Term] id: HP:0005599 name: Hypopigmentation of hair subset: hposlim_core synonym: "Hair hypopigmentation" EXACT [] synonym: "Loss of hair color" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C3278401 is_a: HP:0009887 ! Abnormality of hair pigmentation [Term] id: HP:0005600 name: Congenital giant melanocytic nevus alt_id: HP:0005604 def: "The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child." [HPO:probinson, pmid:21139903] comment: Between 4% and 6% of these lesions will develop into a malignant melanoma. synonym: "Giant pigmented hairy nevus" EXACT [] synonym: "Giant pigmented mole" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Giant pigmented nevus" EXACT [] xref: MSH:C536819 xref: SNOMEDCT_US:10291008 xref: SNOMEDCT_US:254815002 xref: UMLS:C1842036 is_a: HP:0000995 ! Melanocytic nevus [Term] id: HP:0005602 name: Progressive vitiligo xref: UMLS:C3806428 is_a: HP:0001045 ! Vitiligo [Term] id: HP:0005603 name: Numerous congenital melanocytic nevi xref: UMLS:C3806415 is_a: HP:0000995 ! Melanocytic nevus [Term] id: HP:0005605 name: Large cafe-au-lait macules with irregular margins def: "Large hypermelanotic macules with jagged borders." [HPO:probinson] comment: This type of lesionk is observed in McCune Albright syndrome. The cafe-au-lait macules are larger than those seen in neurofibromatosis, and have more irregular borders. The borders of these macules have been compared to the coast of Maine, whereas the cafe-au-lait spots in neurofibromatosis type 1 have been compared to the coast of California. xref: UMLS:C4025174 is_a: HP:0001034 ! Hypermelanotic macule [Term] id: HP:0005606 name: Hyperpigmented nevi and streak xref: UMLS:C3805692 is_a: HP:0000995 ! Melanocytic nevus [Term] id: HP:0005607 name: Abnormal tracheobronchial morphology alt_id: HP:0005940 synonym: "Tracheobronchial anomalies" EXACT [] xref: Fyler:4232 xref: UMLS:C4021631 is_a: HP:0002087 ! Abnormality of the upper respiratory tract created_by: peter creation_date: 2008-03-28T09:03:00Z [Term] id: HP:0005608 name: Bilobate gallbladder def: "The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium." [HPO:probinson, pmid:14571173, pmid:16553121, pmid:21170223] comment: During the fifth or early sixth embryonic week, occasionally, the gallbladder primordium bifurcates and results in duplication of gallbladder. Duplication results from a split primordium whilst a true accessory gallbladder results from an extra primordium. There are no specific symptoms or signs associated with multiple gallbladders. synonym: "Bilobed gallbladder" EXACT [] synonym: "Double gallbladder" EXACT [] synonym: "Gallbladder duplication" EXACT [] xref: UMLS:C1846422 is_a: HP:0012437 ! Abnormal gallbladder morphology [Term] id: HP:0005609 name: Gallbladder dysfunction synonym: "Gallbladder dysfunction" EXACT layperson [] xref: SNOMEDCT_US:51047007 xref: UMLS:C0232769 is_a: HP:0012438 ! Abnormal gallbladder physiology [Term] id: HP:0005612 name: Arthrogryposis-like hand anomaly xref: UMLS:C4025173 is_a: HP:0005684 ! Distal arthrogryposis [Term] id: HP:0005613 name: Aplasia/hypoplasia of the femur alt_id: HP:0006396 alt_id: HP:0006425 def: "Absence or underdevelopment of the femur." [HPO:probinson] synonym: "Absent/small thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hypoplastic to absent femora" EXACT [] synonym: "Hypoplastic/aplastic femora" EXACT [] xref: UMLS:C1851310 is_a: HP:0002823 ! Abnormality of femur morphology is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs [Term] id: HP:0005616 name: Accelerated skeletal maturation alt_id: HP:0002649 alt_id: HP:0005854 def: "An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] synonym: "Advanced bone age" EXACT layperson [] synonym: "Early bone maturation" EXACT layperson [] xref: SNOMEDCT_US:123982003 xref: UMLS:C0545053 is_a: HP:0000927 ! Abnormality of skeletal maturation [Term] id: HP:0005617 name: Bilateral camptodactyly xref: UMLS:C4021830 is_a: HP:0100490 ! Camptodactyly of finger [Term] id: HP:0005619 name: Thoracolumbar kyphosis alt_id: HP:0003439 def: "Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance." [HPO:probinson] synonym: "Thoracolumbar gibbus" EXACT [] synonym: "Thoracolumbar gibbus deformity" EXACT [] xref: UMLS:C1855418 is_a: HP:0002942 ! Thoracic kyphosis is_a: HP:0100712 ! Abnormality of the lumbar spine [Term] id: HP:0005620 name: Hypermobility of interphalangeal joints def: "The ability of the interphalangeal joints to move beyond their normal range of motion." [HPO:curators] synonym: "Increased mobility of hinge joints" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025172 is_a: HP:0001382 ! Joint hypermobility [Term] id: HP:0005621 name: Trapezoidal shaped vertebral bodies xref: UMLS:C4025171 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0005622 name: Broad long bones def: "Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately." [HPO:probinson] synonym: "Broad long bones" EXACT layperson [] synonym: "Wide long bones" EXACT layperson [] synonym: "Widened long bones" EXACT layperson [] xref: UMLS:C4021630 is_a: HP:0011314 ! Abnormality of long bone morphology [Term] id: HP:0005623 name: Absent ossification of calvaria def: "Absent ossification of the calvaria (vault of the skull)." [HPO:probinson] synonym: "Absent bone maturation of skullcap" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Absent ossification of skull vault" EXACT [] xref: UMLS:C4021629 is_a: HP:0005474 ! Decreased calvarial ossification [Term] id: HP:0005625 name: Osteoporosis of vertebrae def: "Osteoporosis affecting predominantly the vertebrae." [HPO:curators] xref: UMLS:C4025170 is_a: HP:0003468 ! Abnormal vertebral morphology is_a: HP:0040161 ! Localized osteoporosis [Term] id: HP:0005626 name: Posterior fusion of lumbosacral vertebrae def: "Bony fusion of the posterior part of the L5 vertebral body with the sacrum." [pmid:5443339] xref: UMLS:C4025169 is_a: HP:0002948 ! Vertebral fusion [Term] id: HP:0005627 name: Type D brachydactyly def: "This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes." [HPO:probinson] synonym: "Brachydactyly type D" EXACT [] xref: MSH:C562420 xref: UMLS:C0220664 is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0005632 name: Absent forearm synonym: "Absent forearm" EXACT layperson [] synonym: "Absent forearms" RELATED layperson [HPO:skoehler] xref: UMLS:C1408532 is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0005638 name: Decreased anterioposterior diameter of lumbar vertebral bodies xref: UMLS:C4025168 is_a: HP:0008473 ! Narrow anterio-posterior vertebral body diameter [Term] id: HP:0005639 name: Hyperextensible hand joints def: "The ability of the joints of the hand to move beyond their normal range of motion." [HPO:curators] xref: UMLS:C1856877 is_a: HP:0001382 ! Joint hypermobility [Term] id: HP:0005640 name: Abnormal vertebral segmentation and fusion xref: UMLS:C4025167 is_a: HP:0002948 ! Vertebral fusion [Term] id: HP:0005643 name: Short 3rd toe def: "Underdevelopment (hypoplasia) of the third toe." [HPO:probinson] synonym: "Brachydactyly of third toes" EXACT [] synonym: "Short 3rd toe" EXACT layperson [] synonym: "Short third toe" EXACT layperson [] xref: UMLS:C4021628 is_a: HP:0001831 ! Short toe [Term] id: HP:0005645 name: Intervertebral disk calcification def: "The presence of abnormal calcium deposition of the intervertebral disk." [HPO:probinson] subset: hposlim_core synonym: "Multiple intervertebral disk calcifications" EXACT [] xref: SNOMEDCT_US:240211000 xref: UMLS:C0410607 is_a: HP:0005108 ! Abnormality of the intervertebral disk is_a: HP:0010766 ! Ectopic calcification [Term] id: HP:0005648 name: Bilateral ulnar hypoplasia def: "Underdevelopment of the ulna on both sides." [HPO:probinson] comment: May be a symmetric finding. xref: UMLS:C4025166 is_a: HP:0003022 ! Hypoplasia of the ulna [Term] id: HP:0005650 name: Cutaneous syndactyly between fingers 2 and 5 def: "A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints." [HPO:probinson] xref: UMLS:C4025165 is_a: HP:0010554 ! Cutaneous finger syndactyly [Term] id: HP:0005652 name: Cortical sclerosis def: "Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity." [HPO:probinson] xref: UMLS:C4025164 is_a: HP:0003103 ! Abnormal cortical bone morphology is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0005653 name: Moderate generalized osteoporosis def: "Moderate osteoporosis." [HPO:curators] xref: UMLS:C4025163 is_a: HP:0040160 ! Generalized osteoporosis [Term] id: HP:0005655 name: Multiple digital exostoses def: "Multiple exostoses originating in the fingers and toes." [HPO:probinson] comment: This feature is characteristic of metachondromatosis (MIM:156250). xref: UMLS:C4025162 is_a: HP:0002762 ! Multiple exostoses [Term] id: HP:0005656 name: Positional foot deformity def: "A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies." [HPO:probinson] xref: UMLS:C4025161 is_a: HP:0001760 ! Abnormality of the foot [Term] id: HP:0005659 name: Thoracic kyphoscoliosis xref: UMLS:C4015465 is_a: HP:0002943 ! Thoracic scoliosis [Term] id: HP:0005661 name: Salmonella osteomyelitis def: "Osteomyelitis caused by infection with the bacteria, salmonella." [PMID:26668420] synonym: "Salmonella bone infection" EXACT layperson [] xref: SNOMEDCT_US:6803002 xref: UMLS:C0152491 is_a: HP:0002754 ! Osteomyelitis [Term] id: HP:0005665 name: Massively thickened long bone cortices def: "Extreme thickening of the cortex of long bones." [HPO:curators] xref: UMLS:C4025160 is_a: HP:0000935 ! Thickened cortex of long bones [Term] id: HP:0005667 name: Os odontoideum def: "Separation of the odontoid process from the body of the axis." [HPO:probinson, PMID:21543665, pmid:22224150] comment: With os odontoideum, the caudal fragment of the odontoid process may provide deficient stability for the atlantoaxial joint and lead to subsequent instability or dislocation and neurological deficits. xref: SNOMEDCT_US:445242006 xref: UMLS:C2919848 is_a: HP:0003310 ! Abnormality of the odontoid process [Term] id: HP:0005671 name: Bilateral intracranial calcifications def: "Deposition of calcium salts on both sides of the brain." [HPO:probinson] xref: UMLS:C4025159 is_a: HP:0002514 ! Cerebral calcification [Term] id: HP:0005676 name: Rudimentary postaxial polydactyly of hands xref: UMLS:C4025158 is_a: HP:0001162 ! Postaxial hand polydactyly [Term] id: HP:0005678 name: Anterior atlanto-occipital dislocation xref: UMLS:C4025157 is_a: HP:0003414 ! Atlantoaxial dislocation [Term] id: HP:0005679 name: Dupuytren contracture def: "An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints." [HPO:probinson] comment: A Dupuytren contracture usually affects the fourth and fifth digits (the ring and small fingers). Affected persons are not able to extend the 4th and 5th fingers. xref: MSH:D004387 xref: SNOMEDCT_US:203045001 xref: SNOMEDCT_US:203047009 xref: SNOMEDCT_US:274142002 xref: SNOMEDCT_US:410813000 xref: UMLS:C0013312 is_a: HP:0009473 ! Joint contracture of the hand [Term] id: HP:0005680 name: Tongue-like lumbar vertebral deformities def: "A tongue-like protusion from the anterior aspect of lumbar vertebral bodies." [PMID:25349664] xref: UMLS:C4025156 is_a: HP:0008430 ! Anterior beaking of lumbar vertebrae [Term] id: HP:0005681 name: Juvenile rheumatoid arthritis synonym: "Juvenile idiopathic arthritis" EXACT [https://en.wikipedia.org/wiki/subtalar_joint, ORCID:0000-0001-5208-3432] synonym: "Juvenile RA" EXACT HP:0045077 [] synonym: "Rheumatoid arthritis, juvenile" EXACT [] xref: SNOMEDCT_US:410795001 xref: UMLS:C3714757 is_a: HP:0001370 ! Rheumatoid arthritis [Term] id: HP:0005682 name: Talocalcaneal synostosis synonym: "Fusion of foot joint" BROAD layperson [https://en.wikipedia.org/wiki/subtalar_joint, ORCID:0000-0001-5208-3432] synonym: "Fusion of the subtalar joint" EXACT [https://en.wikipedia.org/wiki/subtalar_joint, ORCID:0000-0001-5208-3432] xref: UMLS:C4025155 xref: UMLS:C4255214 is_a: HP:0008368 ! Tarsal synostosis [Term] id: HP:0005684 name: Distal arthrogryposis def: "A form of arthrogryposis primarily affecting the hands and the feet." [HPO:probinson] xref: SNOMEDCT_US:24269006 xref: UMLS:C0265213 is_a: HP:0002803 ! Congenital contracture [Term] id: HP:0005686 name: Patchy osteosclerosis def: "Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:curators] synonym: "Patchy increase of bone mineral density" EXACT [HPO:curators] synonym: "Uneven increase in bone density" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1855845 is_a: HP:0010658 ! Patchy changes of bone mineral density is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0005687 name: Deformed humeral heads synonym: "Deformed head of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025154 is_a: HP:0003871 ! Deformed humerus [Term] id: HP:0005688 name: Dysplastic distal thumb phalanges with a central hole xref: UMLS:C4025153 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb [Term] id: HP:0005689 name: Dermatoglyphic ridges abnormal xref: UMLS:C4025152 is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0005692 name: Joint hyperflexibility def: "Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles." [https://orcid.org/0000-0002-6548-5200] synonym: "Joints move beyond expected range of motion" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: UMLS:C3553764 is_a: HP:0001382 ! Joint hypermobility [Term] id: HP:0005694 name: Partial fusion of proximal row of carpal bones synonym: "Partial fusion of innermost row of wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3152021 is_a: HP:0009702 ! Carpal synostosis [Term] id: HP:0005696 name: Postaxial polydactyly type A def: "Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal." [HPO:probinson] xref: MSH:C562429 xref: SNOMEDCT_US:715704001 xref: UMLS:C3887487 is_a: HP:0001162 ! Postaxial hand polydactyly [Term] id: HP:0005700 name: Increased bone density with cystic changes xref: UMLS:C4025151 is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0005701 name: Multiple enchondromatosis xref: MSH:D004687 xref: SNOMEDCT_US:268274005 xref: UMLS:C0014084 is_a: HP:0002763 ! Abnormal cartilage morphology is_a: HP:0030038 ! Enchondroma [Term] id: HP:0005707 name: Bilateral triphalangeal thumbs def: "A bilateral form of triphalangeal thumb." [HPO:probinson] synonym: "Bilateral digitalized thumb" EXACT [] xref: UMLS:C4021627 is_a: HP:0001199 ! Triphalangeal thumb [Term] id: HP:0005709 name: 2-3 toe cutaneous syndactyly synonym: "Webbed skin of 2nd-3rd toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:205145001 xref: UMLS:C0432040 is_a: HP:0010621 ! Cutaneous syndactyly of toes [Term] id: HP:0005715 name: Flattened knee epiphyses synonym: "Flattened end part of knee bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025150 is_a: HP:0002815 ! Abnormality of the knee is_a: HP:0003071 ! Flattened epiphysis [Term] id: HP:0005716 name: Lethal skeletal dysplasia alt_id: HP:0008898 synonym: "Lethal dwarfism identifiable at birth" EXACT layperson [] xref: UMLS:C4021626 is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0005720 name: Shortening of all metacarpals def: "Abnormal reduction in length of all metacarpal bones." [HPO:probinson] synonym: "Shortened long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025149 is_a: HP:0010049 ! Short metacarpal [Term] id: HP:0005722 name: Hyperextensible thumb def: "The ability of the thumb joints to move beyond their normal range of motion." [HPO:curators] synonym: "Double jointed thumb" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4025148 is_a: HP:0005639 ! Hyperextensible hand joints [Term] id: HP:0005723 name: Shoe-shaped sella turcica xref: UMLS:C4025147 is_a: HP:0002681 ! Deformed sella turcica [Term] id: HP:0005725 name: Nonopposable triphalangeal thumb def: "A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand." [HPO:probinson] xref: MSH:C536562 xref: UMLS:C2931238 is_a: HP:0001199 ! Triphalangeal thumb [Term] id: HP:0005726 name: Thumbs hypoplastic with bulbous tips synonym: "Short thumbs with bulbous tips" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025146 is_a: HP:0009778 ! Short thumb [Term] id: HP:0005731 name: Cortical irregularity def: "An abnormal irregularity of cortical bone." [HPO:curators] xref: UMLS:C4025145 is_a: HP:0003103 ! Abnormal cortical bone morphology [Term] id: HP:0005733 name: Spinal stenosis with reduced interpedicular distance alt_id: HP:0004597 def: "An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging)." [HPO:probinson] comment: The pedicles are two short, thick processes that connect the body of the vertebrae to the arch. synonym: "Spinal stenosis due to short pedicles" EXACT [] xref: UMLS:C4021625 is_a: HP:0003416 ! Spinal canal stenosis [Term] id: HP:0005736 name: Short tibia alt_id: HP:0002993 def: "Underdevelopment (reduced size) of the tibia." [HPO:probinson] synonym: "Hypoplasia of the tibia" EXACT [] synonym: "Hypoplastic tibia" EXACT [] synonym: "Short shinbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short skankbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short tibiae" EXACT [] xref: UMLS:C1850259 is_a: HP:0003026 ! Short long bone is_a: HP:0005772 ! Aplasia/Hypoplasia of the tibia [Term] id: HP:0005739 name: Posterior subluxation of radial head def: "Partial dislocation of the head of the radius in the posterior direction." [HPO:curators] xref: UMLS:C3149878 is_a: HP:0003048 ! Radial head subluxation [Term] id: HP:0005743 name: Avascular necrosis of the capital femoral epiphysis alt_id: HP:0003280 alt_id: HP:0006448 alt_id: HP:0010887 def: "Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature." [HPO:probinson, PMID:29481348, PMID:30020602] comment: In medical parlance, this is often referred to as Legg Calve Perthes disease. Here, the name 'Avascular necrosis of the capital femoral epiphysis' is preferred to emphasize that the term refers to a phenotypic feature rather than a disease entity. Avascular necrosis of the femoral head may result in pain in the hip, limp, stiffness and reduced range of motion, and some degree of atrophy of the affected leg. The phrase Legg Perthes syndrome or Legg Calve Perthes disease is also used to refer to a number of diseases, including the idiopathic form and a form that is related to mutation in the COL2A1 gene (MIM 150600). Legg-Calve-Perthes disease usually occurs in boys 4 to 10 years old, and is clinically characterized by limping, hip stiffness, limited range of motion, and can result in restriction of growth of the affected leg and wasting of the muscles of the upper thigh. synonym: "Coxa plana" RELATED [] synonym: "Legg-Calve-Perthes syndrome" RELATED [] synonym: "Legg-Perthes disease" RELATED [] synonym: "Morbus Legg-Calve-Perthes" RELATED [] synonym: "Osteochondrosis of the femoral head" EXACT [] synonym: "Osteonecrosis of the femoral head" EXACT [] synonym: "Perthes-like femoral head changes" EXACT [] xref: ICD-10:M91.1 xref: MSH:D007873 xref: SNOMEDCT_US:111255008 xref: SNOMEDCT_US:240241003 xref: UMLS:C0023234 is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head is_a: HP:0100323 ! Juvenile aseptic necrosis [Term] id: HP:0005744 name: obsolete Generalized osteoporosis with pathologic fractures is_obsolete: true replaced_by: HP:0040160 [Term] id: HP:0005745 name: Congenital foot contractures xref: UMLS:C4025144 is_a: HP:0002803 ! Congenital contracture is_a: HP:0005750 ! Contractures of the joints of the lower limbs [Term] id: HP:0005746 name: Osteosclerosis of the base of the skull def: "An increase in bone density affecting the basicranium (base of the skull)." [HPO:probinson] comment: Bundled term. Consider obsoleting it and splitting of osteosclerosis of base of skull. synonym: "Osteosclerosis of the skull base" EXACT [] xref: UMLS:C4021624 is_a: HP:0005464 ! Craniofacial osteosclerosis [Term] id: HP:0005747 name: Easily subluxated first metacarpophalangeal joints xref: UMLS:C4025143 is_a: HP:0004294 ! Subluxation of metacarpal phalangeal joints [Term] id: HP:0005750 name: Contractures of the joints of the lower limbs synonym: "Contractures, lower limbs" EXACT [] xref: UMLS:C1859523 is_a: HP:0003121 ! Limb joint contracture [Term] id: HP:0005752 name: Flattened moderately deformed vertebrae xref: UMLS:C4025142 is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0005756 name: Neonatal epiphyseal stippling def: "The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period." [HPO:probinson] synonym: "Epiphyseal stippling in neonates" EXACT [] synonym: "Speckled calcifications in bone end parts in neonates" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021623 is_a: HP:0010655 ! Epiphyseal stippling [Term] id: HP:0005758 name: Basilar impression def: "Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum." [HPO:probinson, pmid:10084535] xref: MSH:D010985 xref: SNOMEDCT_US:86587003 xref: UMLS:C0032209 is_a: HP:0000932 ! Abnormality of the posterior cranial fossa [Term] id: HP:0005759 name: Small flat posterior fossa def: "An abnormally small and flat configuration of the posterior cranial fossa." [HPO:curators] synonym: "Small and flat posterior fossa of skull" EXACT [ORCID:0000-0001-5889-4463] synonym: "Small and flat posterior skull bones" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025141 is_a: HP:0040010 ! Small posterior fossa is_a: HP:0040011 ! Flat posterior fossa [Term] id: HP:0005764 name: Polyarticular arthritis xref: MSH:D001168 xref: SNOMEDCT_US:416956002 xref: SNOMEDCT_US:417373000 xref: UMLS:C0162323 is_a: HP:0005195 ! Polyarticular arthropathy [Term] id: HP:0005765 name: Sacral meningocele xref: SNOMEDCT_US:95478002 xref: UMLS:C0521556 is_a: HP:0005107 ! Abnormal sacrum morphology [Term] id: HP:0005766 name: Disproportionate shortening of the tibia synonym: "Disproportionate shortening of the shankbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Disproportionate shortening of the shinbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3806516 is_a: HP:0005736 ! Short tibia [Term] id: HP:0005767 name: 1-2 toe complete cutaneous syndactyly synonym: "Webbed 1st-2nd toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025140 is_a: HP:0010621 ! Cutaneous syndactyly of toes [Term] id: HP:0005768 name: 2-4 toe cutaneous syndactyly def: "A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4." [HPO:probinson] synonym: "Soft tissue syndactyly of toes 2, 3, and 4" EXACT [] synonym: "Webbed 2nd, 3rd and 4th toes" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Webbed second, third and fourth toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021622 is_a: HP:0010621 ! Cutaneous syndactyly of toes [Term] id: HP:0005769 name: Fifth finger distal phalanx clinodactyly def: "Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger)." [HPO:probinson] synonym: "Curvature of outermost bone of little finger" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Curvature of outermost bone of pinkie finger" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Curvature of outermost bone of pinky finger" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025139 xref: UMLS:C4280477 is_a: HP:0004209 ! Clinodactyly of the 5th finger is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger [Term] id: HP:0005772 name: Aplasia/Hypoplasia of the tibia def: "Absence or underdevelopment of the tibia." [HPO:curators] synonym: "Absent/hypoplastic tibia" EXACT [] synonym: "Absent/small shankbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/small shinbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped shankbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped shinbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplastic/hypoplastic tibia" EXACT [] xref: UMLS:C1969181 is_a: HP:0002992 ! Abnormality of tibia morphology is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs [Term] id: HP:0005773 name: Short forearm def: "Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm." [HPO:probinson] synonym: "Short forearm" EXACT layperson [] xref: UMLS:C1855299 is_a: HP:0009821 ! Forearm undergrowth [Term] id: HP:0005775 name: Multiple skeletal anomalies xref: UMLS:C4025138 is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0005776 name: Carpal bone malsegmentation xref: UMLS:C4025137 is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0005780 name: Absent fourth finger distal interphalangeal crease def: "Absence of the distal interphalangeal flexion creases of the fourth finger." [HPO:probinson] synonym: "No fourth finger distal interphalangeal crease" EXACT [] xref: UMLS:C4021621 is_a: HP:0001032 ! Absent distal interphalangeal creases [Term] id: HP:0005781 name: Contractures of the large joints xref: UMLS:C1859698 is_a: HP:0001371 ! Flexion contracture [Term] id: HP:0005787 name: Lumbar platyspondyly alt_id: HP:0004588 def: "A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the lumbar spine." [HPO:probinson] xref: UMLS:C4025136 is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0005788 name: Abnormal cervical myelogram xref: UMLS:C4025135 is_a: HP:0002318 ! Cervical myelopathy [Term] id: HP:0005789 name: Generalized osteosclerosis alt_id: HP:0005805 def: "An abnormal increase of bone mineral density with generalized involvement of the skeleton." [HPO:probinson] synonym: "Diffuse, symmetrical osteosclerosis" EXACT [] synonym: "Increased bone density in skeletal bones" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Osteosclerosis, diffuse symmetrical" EXACT [] xref: UMLS:C1843331 xref: UMLS:C4280476 is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0005790 name: Short mandibular condyles synonym: "Bilateral hypoplasia of condylar process of mandible" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Bilateral hypoplasia of mandibular condylar head" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Bilateral hypoplasia of mandibular condylar neck" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Decreased height of condylar process of mandible" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased length of condylar process of mandible" EXACT [ORCID:0000-0001-5889-4463] synonym: "Short condylar head of mandible" NARROW [ORCID:0000-0001-5889-4463] synonym: "Short condylar neck of mandible" NARROW [ORCID:0000-0001-5889-4463] synonym: "Short condylar process of mandible" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025134 xref: UMLS:C4280474 xref: UMLS:C4280475 is_a: HP:0003778 ! Short mandibular rami is_a: HP:3000077 ! Abnormal mandible condylar process morphology [Term] id: HP:0005791 name: Cortical thickening of long bone diaphyses def: "Abnormal thickening of the cortex of the diaphyseal region of long bones." [HPO:curators] xref: UMLS:C4025133 is_a: HP:0000935 ! Thickened cortex of long bones is_a: HP:0000940 ! Abnormal diaphysis morphology [Term] id: HP:0005792 name: Short humerus alt_id: HP:0002989 alt_id: HP:0003014 alt_id: HP:0003064 alt_id: HP:0006419 alt_id: HP:0006464 alt_id: HP:0006468 def: "Underdevelopment of the humerus." [HPO:probinson] subset: hposlim_core synonym: "Humeral hypoplasia" EXACT [] synonym: "Humeral shortening" EXACT [] synonym: "Hypoplastic humerus" EXACT [] synonym: "Short humeri" EXACT [] synonym: "Short humerus" EXACT layperson [] synonym: "Short long bone of upper arm" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Short upper arms" EXACT layperson [] xref: UMLS:C1832117 is_a: HP:0003026 ! Short long bone is_a: HP:0006507 ! Aplasia/hypoplasia of the humerus [Term] id: HP:0005793 name: Shortening of all distal phalanges of the toes def: "Abnormally short distal phalanx of toe of all toes." [HPO:probinson] synonym: "Shortening of all outermost bone of the toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025132 is_a: HP:0001857 ! Short distal phalanx of toe [Term] id: HP:0005794 name: obsolete Arterial disease of legs is_obsolete: true replaced_by: HP:0004950 [Term] id: HP:0005798 name: Posterior radial head dislocation def: "A dislocation of the head of the radius from its socket in the elbow joint in an posterior direction." [HPO:probinson] xref: MSH:C566728 xref: UMLS:C1867398 is_a: HP:0003083 ! Dislocated radial head [Term] id: HP:0005802 name: Coalescence of tarsal bones xref: UMLS:C4025130 is_a: HP:0008368 ! Tarsal synostosis [Term] id: HP:0005807 name: Absent distal phalanges def: "Aplasia (absence) of the distal phalanges." [HPO:curators] synonym: "Absent outermost digital bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1861339 is_a: HP:0009835 ! Aplasia/Hypoplasia of the distal phalanges of the hand [Term] id: HP:0005815 name: Supernumerary ribs alt_id: HP:0000901 def: "The presence of more than 12 rib pairs." [HPO:probinson] subset: hposlim_core synonym: "Extra ribs" EXACT layperson [] xref: SNOMEDCT_US:205460009 xref: UMLS:C0345397 is_a: HP:0000772 ! Abnormality of the ribs is_a: HP:0009144 ! Supernumerary bones of the axial skeleton [Term] id: HP:0005817 name: Postaxial polysyndactyly of foot def: "Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe)." [HPO:probinson] xref: UMLS:C4021824 is_a: HP:0001830 ! Postaxial foot polydactyly [Term] id: HP:0005819 name: Short middle phalanx of finger alt_id: HP:0001208 alt_id: HP:0006068 alt_id: HP:0006081 alt_id: HP:0010240 def: "Short (hypoplastic) middle phalanx of finger, affecting one or more fingers." [HPO:probinson] synonym: "Brachymesophalangy" EXACT [] synonym: "Hypoplasia of the middle phalanges of the hand" EXACT [] synonym: "Hypoplastic middle phalanges" EXACT [] synonym: "Hypoplastic middle phalanx" EXACT [] synonym: "Midphalangeal hypoplasia" EXACT [] synonym: "Short middle bone of finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short middle phalanges" EXACT [] xref: UMLS:C1846950 is_a: HP:0009381 ! Short finger is_a: HP:0009803 ! Short phalanx of finger is_a: HP:0009843 ! Aplasia/Hypoplasia of the middle phalanges of the hand [Term] id: HP:0005820 name: Superior rib anomalies xref: UMLS:C4025129 is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0005824 name: Clinodactyly of the 2nd toe def: "Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe)." [HPO:probinson] synonym: "Clinodactyly of second toes" EXACT [] synonym: "Curvature of 2nd toe" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021620 xref: UMLS:C4280473 is_a: HP:0001863 ! Toe clinodactyly is_a: HP:0010326 ! Deviation of the 2nd toe [Term] id: HP:0005825 name: Mixed sclerosis of humeral metaphyses xref: UMLS:C4025128 is_a: HP:0003918 ! Sclerotic humeral metaphysis [Term] id: HP:0005828 name: Transient pulmonary infiltrates xref: UMLS:C3805920 is_a: HP:0002113 ! Pulmonary infiltrates [Term] id: HP:0005829 name: Maldevelopment of radioulnar joint xref: UMLS:C3149879 is_a: HP:0003059 ! Abnormality of the radioulnar joints [Term] id: HP:0005830 name: Flexion contracture of toe alt_id: HP:0001860 alt_id: HP:0008128 alt_id: HP:0008367 alt_id: HP:0200027 def: "One or more bent (flexed) toe joints that cannot be straightened actively or passively." [HPO:probinson] synonym: "Contractures involving the toes" EXACT [] synonym: "Contractures of the toes" EXACT [] synonym: "Toe contractures" EXACT [] xref: UMLS:C1406835 is_a: HP:0001780 ! Abnormality of toe is_a: HP:0008366 ! Contractures involving the joints of the feet is_a: HP:0030044 ! Flexion contracture of digit is_a: HP:0100492 ! Joint contractures involving the joints of the feet [Term] id: HP:0005831 name: Type B brachydactyly xref: MSH:C566196 xref: UMLS:C1862112 is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0005832 name: Dysharmonic delayed bone age alt_id: HP:0005840 def: "A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones." [HPO:probinson] xref: UMLS:C1859444 is_a: HP:0002750 ! Delayed skeletal maturation is_a: HP:0200000 ! Dysharmonic bone age [Term] id: HP:0005833 name: obsolete Joint swelling onset late infancy is_obsolete: true consider: HP:0001386 [Term] id: HP:0005834 name: obsolete Thumbs hypo/aplastic is_obsolete: true replaced_by: HP:0009658 [Term] id: HP:0005837 name: obsolete Joint dislocations in young adult is_obsolete: true replaced_by: HP:0001373 [Term] id: HP:0005841 name: Calcific stippling of infantile cartilaginous skeleton xref: UMLS:C1859135 is_a: HP:0003336 ! Abnormal enchondral ossification [Term] id: HP:0005844 name: Rounded middle phalanx of finger def: "An abnormally round shape of the middle phalanx of the finger." [HPO:probinson] synonym: "Rounded middle bone of finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025126 is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand [Term] id: HP:0005848 name: Bifid thumb distal phalanx def: "Cleft (split into two parts) distal phalanx of thumb." [HPO:probinson] synonym: "Notched outermost bone of thumb" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1860162 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb [Term] id: HP:0005849 name: Diffuse cerebral calcification def: "Generalized deposition of calcium salts within the brain." [HPO:probinson] xref: UMLS:C4025125 is_a: HP:0002514 ! Cerebral calcification [Term] id: HP:0005850 name: Congenital talipes calcaneovalgus xref: MSH:D005413 xref: SNOMEDCT_US:205083002 xref: SNOMEDCT_US:31668003 xref: UMLS:C0152237 is_a: HP:0001884 ! Talipes calcaneovalgus [Term] id: HP:0005852 name: Limited elbow extension and supination xref: UMLS:C4025124 is_a: HP:0001377 ! Limited elbow extension [Term] id: HP:0005853 name: Congenital foot contraction deformities xref: UMLS:C4025123 is_a: HP:0002803 ! Congenital contracture [Term] id: HP:0005855 name: Multiple prenatal fractures alt_id: HP:0002811 alt_id: HP:0005761 def: "The presence of bone fractures in the prenatal period that are diagnosed at birth or before." [HPO:curators] synonym: "Congenital bone fractures" EXACT [] synonym: "Multiple fractures present at birth" EXACT layperson [] synonym: "Multiple fractures, present at birth" EXACT layperson [] synonym: "Numerous multiple fractures present at birth" EXACT layperson [] synonym: "Numerous multiple fractures that are present at birth" EXACT layperson [] xref: UMLS:C1853171 is_a: HP:0002659 ! Increased susceptibility to fractures [Term] id: HP:0005856 name: Ulnar radial head dislocation def: "A dislocation of the head of the radius from its socket in the elbow joint in an ulnar direction." [HPO:probinson] synonym: "Ulnar dislocation of radial heads" EXACT [] xref: UMLS:C4021619 is_a: HP:0003083 ! Dislocated radial head [Term] id: HP:0005857 name: Cervical spina bifida xref: SNOMEDCT_US:32232003 xref: UMLS:C0266501 is_a: HP:0002414 ! Spina bifida [Term] id: HP:0005863 name: Type E brachydactyly alt_id: HP:0006115 def: "In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals." [HPO:probinson] xref: MSH:C566194 xref: UMLS:C1862102 is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0005864 name: Pseudoarthrosis def: "A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or \"false joint\")." [HPO:probinson] synonym: "Pseudoarthroses" EXACT [] xref: MSH:D011542 xref: SNOMEDCT_US:31511007 xref: SNOMEDCT_US:410818009 xref: UMLS:C0033785 is_a: HP:0011314 ! Abnormality of long bone morphology [Term] id: HP:0005866 name: Opposable triphalangeal thumb def: "A form of triphalangeal thumb that can be placed opposite the fingers of the same hand." [HPO:probinson] xref: UMLS:C4025122 is_a: HP:0001199 ! Triphalangeal thumb [Term] id: HP:0005867 name: Fused fourth and fifth metacarpals synonym: "Fused 4th-5th long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fused 4th-5th metacarpals" EXACT [] xref: UMLS:C1859768 is_a: HP:0009707 ! Synostosis involving the 4th metacarpal [Term] id: HP:0005868 name: Metaphyseal enchondromatosis def: "An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins." [HPO:probinson, pmid:20661403] xref: UMLS:C4025121 is_a: HP:0000944 ! Abnormality of the metaphysis [Term] id: HP:0005871 name: Metaphyseal chondrodysplasia alt_id: HP:0006377 def: "An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae." [HPO:probinson, pmid:335375] comment: The term metaphyseal chondrodysplasia is usually used to describe a disease but is often also used to describe the corresponding phenotypic appearance. This use is retained in the HPO for convenience, but if possible a precise phenotypic description is preferred. xref: SNOMEDCT_US:28681006 xref: UMLS:C0265290 is_a: HP:0100255 ! Metaphyseal dysplasia [Term] id: HP:0005872 name: Brachytelomesophalangy alt_id: HP:0005777 alt_id: HP:0006093 def: "Disproportionately short middle and distal phalanges compared to the hand/foot." [HPO:probinson] synonym: "Progressive brachydactyly of middle and distal phalanges" EXACT [] synonym: "Short middle and distal phalanges of digits ii through v" EXACT [] xref: UMLS:C1847408 is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0005873 name: Polysyndactyly of hallux def: "Combined syndactyly and polydactyly of the great toe." [HPO:probinson] synonym: "Polysyndactyly of big toe" EXACT [ORCID:0000-0001-5208-3432] synonym: "Polysyndactyly of great toe" EXACT [] xref: UMLS:C4021618 is_a: HP:0001841 ! Preaxial foot polydactyly [Term] id: HP:0005875 name: Increased dermatoglyphic whorls xref: UMLS:C4025120 is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0005876 name: Progressive flexion contractures def: "Progressively worsening joint contractures." [HPO:probinson] synonym: "Joint contractures, progressive" EXACT [] xref: UMLS:C3279322 is_a: HP:0001371 ! Flexion contracture [Term] id: HP:0005877 name: Multiple small vertebral fractures xref: UMLS:C4025119 is_a: HP:0003468 ! Abnormal vertebral morphology [Term] id: HP:0005878 name: Enlarged sagittal diameter of the cervical canal xref: UMLS:C4025118 is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0005879 name: Congenital finger flexion contractures def: "Multiple bent (flexed) finger joints that cannot be straightened actively or passively." [HPO:probinson] synonym: "Congenital finger contractures" EXACT [] xref: UMLS:C1393871 is_a: HP:0002803 ! Congenital contracture is_a: HP:0100490 ! Camptodactyly of finger [Term] id: HP:0005880 name: Metacarpophalangeal synostosis alt_id: HP:0100325 def: "Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint." [HPO:probinson] synonym: "Fused long bone of hand with innermost finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025117 is_a: HP:0009700 ! Finger symphalangism is_a: HP:0009701 ! Metacarpal synostosis is_a: HP:0011911 ! Abnormality of metacarpophalangeal joint [Term] id: HP:0005881 name: Spinal instability xref: SNOMEDCT_US:240220009 xref: UMLS:C0410648 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0005882 name: Dermatoglyphic variants xref: UMLS:C4025116 is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0005885 name: Absent ossification of cervical vertebral bodies def: "A lack of bone mineralization of one or more body of cervical vertebra." [HPO:probinson] xref: UMLS:C4025115 is_a: HP:0004599 ! Absent or minimally ossified vertebral bodies [Term] id: HP:0005886 name: Aphalangy of the hands def: "Absence of a digit or of one or more phalanges of a finger." [HPO:probinson] xref: UMLS:C4025114 is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand [Term] id: HP:0005890 name: Hyperostosis cranialis interna def: "Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull." [HPO:probinson] synonym: "Enlargement of the inner surface of the skull bones" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Excessive growth of inner surface of the skull bones" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Hyperostosis of the internal surface of the cranial bone" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hyperostosis of the internal surface of the cranial bones" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypertrophy of the internal surface of the cranial bones" BROAD [ORCID:0000-0001-5889-4463] synonym: "Increased ossification of the internal surface of the cranial bones" BROAD [ORCID:0000-0001-5889-4463] synonym: "Overgrowth of the inner surface of the skull bones" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Overgrowth of the inside of the skull" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Thick inner surface of the skull bones" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Thick internal surface of the cranial bones" BROAD [ORCID:0000-0001-5889-4463] xref: MSH:C564168 xref: UMLS:C1840404 xref: UMLS:C4280468 xref: UMLS:C4280469 xref: UMLS:C4280470 xref: UMLS:C4280471 xref: UMLS:C4280472 is_a: HP:0004437 ! Cranial hyperostosis [Term] id: HP:0005891 name: Progressive forearm bowing def: "Progressive bending or abnormal curvature of the forearm skeleton." [HPO:probinson] synonym: "Progressive forearm curvature" EXACT [] xref: UMLS:C3152020 is_a: HP:0003956 ! Bowed forearm bones is_a: HP:0006383 ! Progressive bowing of long bones [Term] id: HP:0005892 name: Proximal tibial and fibular fusion synonym: "Fusion of innermost shinbone and calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025113 is_a: HP:0005928 ! Synostosis involving the fibula is_a: HP:0005929 ! Synostosis involving the tibia [Term] id: HP:0005894 name: Double first metacarpals def: "Duplication of the metacarpal I bones." [HPO:curators] synonym: "Double 1st long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025112 is_a: HP:0005917 ! Supernumerary metacarpal bones [Term] id: HP:0005895 name: Radial deviation of thumb terminal phalanx xref: UMLS:C4025111 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb [Term] id: HP:0005897 name: Severe generalized osteoporosis alt_id: HP:0005838 def: "Severe degree of osteoporosis." [HPO:curators] synonym: "Severe, generalized osteoporosis" EXACT [] xref: UMLS:C1859443 is_a: HP:0040160 ! Generalized osteoporosis [Term] id: HP:0005899 name: Metaphyseal dysostosis def: "Abnormal mineralization of the metaphyseal area of bones." [HPO:probinson] xref: SNOMEDCT_US:28681006 xref: UMLS:C0265290 is_a: HP:0000944 ! Abnormality of the metaphysis [Term] id: HP:0005900 name: Fifth metacarpal with ulnar notch def: "Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger)." [HPO:probinson] synonym: "Fifth metacarpal notched on ulnar side" EXACT [] xref: UMLS:C3276324 is_a: HP:0010013 ! Abnormality of the 5th metacarpal [Term] id: HP:0005901 name: obsolete Chronic recurrent multifocal osteomyelitis is_obsolete: true replaced_by: HP:0002754 [Term] id: HP:0005905 name: Abnormal cervical curvature def: "The presence of an abnormal curvature of the cervical vertebral column." [HPO:probinson] synonym: "Abnormal neck curve" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C3151523 is_a: HP:0003319 ! Abnormality of the cervical spine is_a: HP:0010674 ! Abnormality of the curvature of the vertebral column [Term] id: HP:0005906 name: Delayed pneumatization of the mastoid process def: "An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms." [HPO:probinson] subset: hposlim_core synonym: "Mastoid processes poorly pneumatized" EXACT [] xref: UMLS:C4021617 is_a: HP:0000264 ! Abnormality of the mastoid [Term] id: HP:0005910 name: Rhomboid or triangular shaped 5th finger middle phalanx def: "Rhomboid or triangular shaped 5th (little) finger middle phalanx." [HPO:curators] synonym: "Rhomboid or triangular shaped fifth finger middle phalanx" EXACT [] xref: UMLS:C4021616 is_a: HP:0009182 ! Triangular shaped middle phalanx of the 5th finger [Term] id: HP:0005912 name: Biliary atresia def: "Atresia of the biliary tree." [HPO:probinson] synonym: "Biliary duct atresia" EXACT [] xref: MSH:D001656 xref: SNOMEDCT_US:77480004 xref: SNOMEDCT_US:82821008 xref: UMLS:C0005411 is_a: HP:0012440 ! Abnormal biliary tract morphology created_by: peter creation_date: 2008-03-27T02:07:00Z [Term] id: HP:0005913 name: Abnormality of metacarpal epiphyses synonym: "Abnormality of end part of long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025110 is_a: HP:0001163 ! Abnormality of the metacarpal bones is_a: HP:0005924 ! Abnormality of the epiphyses of the hand created_by: peter creation_date: 2008-03-27T02:13:00Z [Term] id: HP:0005914 name: Aplasia/Hypoplasia involving the metacarpal bones alt_id: HP:0006007 def: "Aplasia or Hypoplasia affecting the metacarpal bones." [HPO:curators] synonym: "Absent or hypoplastic metacarpals" EXACT [] synonym: "Absent/small long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplastic/hypoplastic metacarpals" EXACT [] synonym: "Hypoplastic metacarpals" EXACT [] synonym: "Hypoplastic/absent metacarpal bones" EXACT [] synonym: "Hypoplastic/absent metacarpals" EXACT [] synonym: "Metacarpal aplasia/hypoplasia" EXACT [] xref: UMLS:C1836192 is_a: HP:0005916 ! Abnormal metacarpal morphology is_a: HP:0005927 ! Aplasia/hypoplasia involving bones of the hand created_by: peter creation_date: 2008-03-27T02:14:00Z [Term] id: HP:0005916 name: Abnormal metacarpal morphology alt_id: HP:0010556 def: "Irregularly shaped metacarpal bones of varying degree." [HPO:curators] synonym: "Abnormal shape of long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormal shape of metacarpal bones" EXACT [] xref: UMLS:C4021615 is_a: HP:0001163 ! Abnormality of the metacarpal bones is_a: HP:0040065 ! Abnormal morphology of bones of the upper limbs created_by: peter creation_date: 2008-03-27T02:17:00Z [Term] id: HP:0005917 name: Supernumerary metacarpal bones def: "The presence of more than the normal number of metacarpal bones." [HPO:curators] synonym: "Extra long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:91846008 xref: UMLS:C0545617 is_a: HP:0001163 ! Abnormality of the metacarpal bones created_by: peter creation_date: 2008-03-27T02:18:00Z [Term] id: HP:0005918 name: Abnormal finger phalanx morphology alt_id: HP:0005786 alt_id: HP:0006259 def: "Abnormalities affecting the phalanx of finger." [HPO:probinson] comment: This category is a supercategory for abnormalties affect phalanges of the hand. synonym: "Abnormal form of phalanges of the hand" EXACT [] synonym: "Abnormality of phalanx of finger" EXACT [] synonym: "Abnormality of the finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the phalanges" EXACT [] synonym: "Abnormality of the phalanges of the hand" EXACT [] xref: UMLS:C4021614 is_a: HP:0001167 ! Abnormality of finger created_by: peter creation_date: 2008-03-27T02:19:00Z [Term] id: HP:0005920 name: Abnormal epiphysis morphology of the phalanges of the hand alt_id: HP:0009151 def: "Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits)." [HPO:curators] synonym: "Abnormality of the end part of the hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the epiphyses of the fingers" EXACT [] synonym: "Abnormality of the epiphyses of the phalanges of the hand" EXACT [] xref: UMLS:C4021613 is_a: HP:0005918 ! Abnormal finger phalanx morphology is_a: HP:0005924 ! Abnormality of the epiphyses of the hand created_by: peter creation_date: 2008-03-27T02:21:00Z [Term] id: HP:0005921 name: obsolete Abnormal ossification of hand bones is_obsolete: true replaced_by: HP:0010660 [Term] id: HP:0005922 name: Abnormal hand morphology alt_id: HP:0003098 def: "Any structural anomaly of the hand." [HPO:probinson] comment: This is a category to be used for general descriptions of hand dysmorphology. In time, it should be replaced by more accurate descriptions. synonym: "Abnormal shape of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025109 is_a: HP:0001155 ! Abnormality of the hand created_by: peter creation_date: 2008-03-27T02:25:00Z [Term] id: HP:0005923 name: Abnormalities of the metaphyses of the hand synonym: "Abnormality of the wide portion of the hand bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025108 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0009809 ! Abnormality of upper limb metaphysis created_by: peter creation_date: 2008-03-27T02:27:00Z [Term] id: HP:0005924 name: Abnormality of the epiphyses of the hand def: "Any abnormality of the epiphyses of the phalanges or metacarpal bones." [HPO:curators] synonym: "Abnormality of the end part of the hand bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025107 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0003839 ! Abnormality of upper limb epiphysis morphology created_by: peter creation_date: 2008-03-27T02:28:00Z [Term] id: HP:0005925 name: Abnormalities of the diaphyses of the hand synonym: "Abnormalities of shaft of long bone of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025106 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0009808 ! Anomaly of the upper limb diaphyses created_by: peter creation_date: 2008-03-27T02:28:00Z [Term] id: HP:0005926 name: Abnormality of hand cortical bone def: "An anomaly of the outer shell (cortex) of a hand bone." [] synonym: "Abnormality of the cortex of hand bones" EXACT [] xref: UMLS:C4025105 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0003103 ! Abnormal cortical bone morphology created_by: peter creation_date: 2008-03-27T02:29:00Z [Term] id: HP:0005927 name: Aplasia/hypoplasia involving bones of the hand def: "Absence (due to failure to form) or underdevelopment of the bones of the hand." [HPO:probinson] synonym: "Absent/small hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hypoplasia/absence of hand bones" EXACT [] xref: UMLS:C4021612 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs created_by: peter creation_date: 2008-03-27T02:29:00Z [Term] id: HP:0005928 name: Synostosis involving the fibula synonym: "Bone fusion involving the calf bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025104 is_a: HP:0002991 ! Abnormality of fibula morphology is_a: HP:0009138 ! Synostosis involving bones of the lower limbs created_by: peter creation_date: 2008-03-27T02:34:00Z [Term] id: HP:0005929 name: Synostosis involving the tibia synonym: "Bone fusion involving the shinbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025103 is_a: HP:0002992 ! Abnormality of tibia morphology is_a: HP:0009138 ! Synostosis involving bones of the lower limbs created_by: peter creation_date: 2008-03-27T02:34:00Z [Term] id: HP:0005930 name: Abnormality of epiphysis morphology alt_id: HP:0000936 def: "An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk." [HPO:probinson] synonym: "Abnormal shape of end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the epiphyses" EXACT [] synonym: "Anomaly of the epiphyses" EXACT [] synonym: "Epiphyseal abnormality" EXACT [] xref: UMLS:C4021611 is_a: HP:0011314 ! Abnormality of long bone morphology created_by: peter creation_date: 2008-03-27T03:00:00Z [Term] id: HP:0005932 name: Abnormal renal corticomedullary differentiation def: "An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla." [HPO:probinson] comment: On T1-weighted magnetic resonance imaging, the signal intensity of the normal renal cortex is typically higher than medulla, resulting in easily visualized corticomedullary differentiation (CMD). Loss of CMD can be seen in disorders such as glomerulonephritis, acute tubular necrosis, end-stage chronic renal failure, obstructive hydronephrosis, and acute allograft rejection. xref: UMLS:C4025102 is_a: HP:0011035 ! Abnormal renal cortex morphology is_a: HP:0100957 ! Abnormal renal medulla morphology created_by: peter creation_date: 2008-03-27T03:21:00Z [Term] id: HP:0005934 name: Imperfect vocal cord adduction xref: UMLS:C4025101 is_a: HP:0031801 ! Vocal cord dysfunction [Term] id: HP:0005938 name: Abnormal respiratory motile cilium morphology def: "Abnormal arrangement of the structures of the motile cilium." [HPO:probinson, MP:0011050] xref: UMLS:C4025100 is_a: HP:0012253 ! Abnormal respiratory epithelium morphology [Term] id: HP:0005939 name: Multiple bilateral pneumothoraces xref: UMLS:C4025099 is_a: HP:0002107 ! Pneumothorax [Term] id: HP:0005941 name: Intermittent hyperpnea at rest xref: UMLS:C4025098 is_a: HP:0004879 ! Intermittent hyperventilation [Term] id: HP:0005942 name: Desquamative interstitial pneumonitis xref: MSH:C562470 xref: SNOMEDCT_US:8549006 xref: UMLS:C0238378 is_a: HP:0006530 ! Interstitial pulmonary abnormality [Term] id: HP:0005943 name: Respiratory arrest synonym: "Breathing cessation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:87317003 xref: UMLS:C0162297 is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0005944 name: Bilateral lung agenesis alt_id: HP:0006550 def: "Bilateral lack of development of the lungs." [HPO:probinson] synonym: "Absent lungs" EXACT layperson [] synonym: "Bilateral pulmonary agenesis" EXACT [] xref: Fyler:4206 xref: UMLS:C4021610 is_a: HP:0006703 ! Aplasia/Hypoplasia of the lungs [Term] id: HP:0005945 name: Laryngeal obstruction def: "Blockage of the upper airway at the level of the larynx often accompanied by respiratory distress." [HPO:probinson] xref: SNOMEDCT_US:61169001 xref: UMLS:C0264306 is_a: HP:0025423 ! Abnormal larynx morphology [Term] id: HP:0005946 name: Ventilator dependence with inability to wean xref: UMLS:C4025097 is_a: HP:0004887 ! Respiratory failure requiring assisted ventilation [Term] id: HP:0005947 name: Decreased sensitivity to hypoxemia def: "Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration." [HPO:probinson] comment: Note that hypoxia is defined as lack of oxygen in tissues. Hypoxia is usually preceded by hypoxemia (decreased concentration of oxygen in blood). synonym: "Decreased sensitivity to hypoxaemia" EXACT [ORCID:0000-0001-6908-9849] synonym: "Decreased sensitivity to hypoxemia" EXACT layperson [] xref: UMLS:C3806286 is_a: HP:0005957 ! Breathing dysregulation [Term] id: HP:0005948 name: Multiple pulmonary cysts def: "The presence of multiple lung cysts." [PMID:20028879] comment: Emphysematous changes sometimes can be mistaken for multifocal lung cysts. In contrast to true cysts, the cystlike lucencies caused by the destruction of lung parenchyma in emphy-sema do not have walls. Nevertheless, emphysema can be accompanied by multiple cysts, such as bullae, or in association with LCH. synonym: "Cystic lung disease" EXACT [] synonym: "Multiple lung cysts" EXACT [] xref: MSH:C563237 xref: UMLS:C1384901 is_a: HP:0032445 ! Pulmonary cyst [Term] id: HP:0005949 name: Apneic episodes in infancy def: "Recurrent episodes of apnea occurring during infancy." [HPO:curators] xref: UMLS:C3807980 is_a: HP:0002104 ! Apnea [Term] id: HP:0005950 name: Laryngeal web def: "A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords." [HPO:probinson] comment: Manifestations may appear at any age (hoarse or weak voice and frequent upper respiratory infections) but onset usually occurs during infancy (respiratory distress, stridor and an unusual cry). synonym: "Laryngeal webs" EXACT [HPO:skoehler] synonym: "Partial laryngeal atresia" EXACT [] xref: SNOMEDCT_US:297159008 xref: UMLS:C0281890 is_a: HP:0025423 ! Abnormal larynx morphology [Term] id: HP:0005951 name: Progressive inspiratory stridor xref: UMLS:C4025096 is_a: HP:0005348 ! Inspiratory stridor [Term] id: HP:0005952 name: Decreased pulmonary function synonym: "Decreased lung function" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Impaired lung function" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Impaired pulmonary function" EXACT [ORCID:0000-0001-5208-3432] xref: MSH:D012131 xref: SNOMEDCT_US:80954004 xref: UMLS:C0235063 is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0005954 name: Pulmonary capillary hemangiomatosis synonym: "Pulmonary hemangiomas" EXACT [] xref: SNOMEDCT_US:233949008 xref: UMLS:C0340548 is_a: HP:0004930 ! Abnormality of the pulmonary vasculature is_a: HP:0005306 ! Capillary hemangioma is_a: HP:0007461 ! Hemangiomatosis [Term] id: HP:0005956 name: Anteroposteriorly shortened larynx def: "Abnormal shortening of the larynx in the anteroposterior (front to back) axis." [HPO:probinson] xref: UMLS:C3805994 is_a: HP:0025423 ! Abnormal larynx morphology [Term] id: HP:0005957 name: Breathing dysregulation synonym: "Abnormal breathing" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Breathing difficulty" EXACT layperson [] synonym: "Difficult to breathe" EXACT layperson [] xref: UMLS:C3808046 is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0005959 name: Impaired gluconeogenesis def: "An impairment of gluconeogenesis." [HPO:gcarletti] synonym: "Gluconeogenesis impaired" EXACT [] xref: UMLS:C3279336 is_a: HP:0011014 ! Abnormal glucose homeostasis [Term] id: HP:0005961 name: Hypoargininemia def: "A decreased concentration of arginine in the blood." [HPO:gcarletti] synonym: "Arginine deficiency" RELATED [] synonym: "Low blood arginine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1859735 xref: UMLS:C4025095 is_a: HP:0010909 ! Abnormal circulating arginine concentration [Term] id: HP:0005964 name: Intermittent hypothermia alt_id: HP:0005970 def: "Episodes of reduced body termperature." [HPO:probinson] synonym: "Intermittent abnormally low body temperature" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Intermittent hypothermia" EXACT layperson [] xref: UMLS:C1837639 is_a: HP:0002045 ! Hypothermia [Term] id: HP:0005967 name: Mixed respiratory and metabolic acidosis xref: UMLS:C1840372 is_a: HP:0001942 ! Metabolic acidosis [Term] id: HP:0005968 name: Temperature instability def: "Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature." [HPO:curators] synonym: "Body temperature instability" RELATED layperson [HPO:skoehler] synonym: "Temperature instability" EXACT layperson [] xref: UMLS:C1820737 xref: UMLS:C3279038 is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0005972 name: Respiratory acidosis def: "Acidosis because of respiratory retention of carbon dioxide." [HPO:probinson] xref: MSH:D000142 xref: SNOMEDCT_US:12326000 xref: UMLS:C0001127 is_a: HP:0001941 ! Acidosis [Term] id: HP:0005973 name: Fructose intolerance xref: MSH:D005633 xref: SNOMEDCT_US:20052008 xref: UMLS:C0016751 is_a: HP:0011033 ! Impairment of fructose metabolism [Term] id: HP:0005974 name: Episodic ketoacidosis alt_id: HP:0005981 alt_id: HP:0005983 def: "Intermittent episodes of ketoacidosis." [HPO:probinson] synonym: "Ketoacidosis, episodic" EXACT [] xref: UMLS:C1859860 is_a: HP:0001993 ! Ketoacidosis [Term] id: HP:0005976 name: Hyperkalemic metabolic acidosis xref: UMLS:C1865880 is_a: HP:0001942 ! Metabolic acidosis [Term] id: HP:0005977 name: Hypochloremic metabolic alkalosis xref: UMLS:C0740895 is_a: HP:0001948 ! Alkalosis [Term] id: HP:0005978 name: Type II diabetes mellitus alt_id: HP:0005965 alt_id: HP:0100652 def: "A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia." [HPO:probinson] comment: Persons with type II diabetes mellitus rarely develop ketoacidosis. synonym: "Diabetes mellitus type 2" RELATED [] synonym: "Diabetes mellitus Type II" EXACT [] synonym: "Diabetes mellitus, noninsulin-dependent" EXACT [] synonym: "NIDDM" EXACT HP:0045077 [HPO:skoehler] synonym: "NIDDM diabetes mellitus" EXACT [] synonym: "Non-insulin dependent diabetes" EXACT [] synonym: "Noninsulin dependent diabetes mellitus" EXACT [] synonym: "Noninsulin-dependent diabetes" EXACT layperson [] synonym: "Noninsulin-dependent diabetes mellitus" RELATED [] synonym: "Type 2 diabetes" EXACT layperson [] synonym: "Type II diabetes" EXACT layperson [] xref: MSH:D003924 xref: SNOMEDCT_US:44054006 xref: UMLS:C0011860 is_a: HP:0000819 ! Diabetes mellitus [Term] id: HP:0005979 name: Metabolic ketoacidosis alt_id: HP:0005971 xref: MSH:D007662 xref: UMLS:C1854704 is_a: HP:0001942 ! Metabolic acidosis is_a: HP:0001993 ! Ketoacidosis [Term] id: HP:0005982 name: Reduced phenylalanine hydroxylase activity def: "A reduction in phenylalanine 4-monooxygenase activity." [HPO:probinson] synonym: "Phenylalanine hydroxylase deficiency" RELATED [] xref: MSH:D010661 xref: SNOMEDCT_US:7573000 xref: UMLS:C0751434 xref: UMLS:C4025094 is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity [Term] id: HP:0005984 name: Elevated maternal serum alpha-fetoprotein def: "An elevation of alpha-feto protein in the maternal serum." [HPO:curators] xref: UMLS:C0740927 is_a: HP:0006254 ! Elevated alpha-fetoprotein [Term] id: HP:0005986 name: Limitation of neck motion synonym: "Limitation of neck motion" EXACT layperson [] synonym: "Limited neck mobility" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Restricted neck movement" EXACT [] xref: MSH:D009127 xref: SNOMEDCT_US:161882006 xref: SNOMEDCT_US:405947006 xref: UMLS:C0151315 xref: UMLS:C1320474 xref: UMLS:C1847392 is_a: HP:0000464 ! Abnormality of the neck [Term] id: HP:0005987 name: Multinodular goiter def: "Enlargement of the thyroid gland related to multiple nodules in the thyroid gland." [DDD:spark] xref: SNOMEDCT_US:237570007 xref: UMLS:C0342208 is_a: HP:0005994 ! Nodular goiter [Term] id: HP:0005988 name: Congenital muscular torticollis def: "A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending." [HPO:probinson] comment: Congenital muscular torticollis is thought to result from injury to the sternocleidomastoid muscle during birth trauma, resulting in fibrosis and unilateral shortening of the sternocleidomastoid muscle. Congenital muscular torticollis is thus etiologically and phenotypically distinct from spasmodic torticollis. synonym: "Torticollis, congenital" EXACT [] xref: MSH:C535425 xref: SNOMEDCT_US:268240006 xref: UMLS:C0079352 is_a: HP:0011006 ! Abnormality of the musculature of the neck [Term] id: HP:0005989 name: Redundant neck skin alt_id: HP:0005993 alt_id: HP:0005996 def: "Excess skin around the neck, often lying in horizontal folds." [pmid:19125436] comment: With age and increased vertical growth of the neck, excess nuchal skin may disappear and the neck may become broad or webbed. If the skin folds are vertical or paravertical, the term Neck webbing should be used. synonym: "Excess neck skin" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Excess skin over the neck" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Excessive nuchal skin" EXACT [] synonym: "Redundant neck skin" EXACT layperson [] synonym: "Redundant nuchal skin" EXACT [] synonym: "Redundant skin folds of neck" EXACT layperson [] synonym: "Redundant skin over the neck" EXACT layperson [] xref: UMLS:C1840319 is_a: HP:0000464 ! Abnormality of the neck is_a: HP:0001582 ! Redundant skin [Term] id: HP:0005990 name: Thyroid hypoplasia def: "Developmental hypoplasia of the thyroid gland." [HPO:probinson] synonym: "Hypoplastic thyroid" EXACT [] xref: MSH:D050033 xref: SNOMEDCT_US:367524008 xref: UMLS:C0151516 is_a: HP:0008188 ! Thyroid dysgenesis [Term] id: HP:0005991 name: Limited neck flexion synonym: "Limited cervical flexion" EXACT [ORCID:0000-0001-5889-4463] synonym: "Limited neck flexibility" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1864449 is_a: HP:0005986 ! Limitation of neck motion [Term] id: HP:0005994 name: Nodular goiter def: "Enlargement of the thyroid gland related to one or more nodules in the thyroid gland." [HPO:probinson] xref: MSH:D006044 xref: SNOMEDCT_US:419153005 xref: UMLS:C0018023 is_a: HP:0000853 ! Goiter [Term] id: HP:0005995 name: Decreased adipose tissue around neck def: "Reduced amount of adipose tissue in the region of the neck." [HPO:probinson] synonym: "Loss of adipose tissue around the neck" EXACT [] synonym: "Loss of fat around neck" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1837763 is_a: HP:0003758 ! Reduced subcutaneous adipose tissue [Term] id: HP:0005997 name: Restricted neck movement due to contractures synonym: "Neck flexion contracture" EXACT [] synonym: "Restricted neck mobility due to contractures" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Restricted neck movement due to contractures" EXACT layperson [] xref: UMLS:C1867006 is_a: HP:0001371 ! Flexion contracture is_a: HP:0005986 ! Limitation of neck motion [Term] id: HP:0005999 name: Ureteral atresia def: "A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter." [HPO:probinson] xref: SNOMEDCT_US:204974003 xref: SNOMEDCT_US:49534003 xref: UMLS:C0266320 is_a: HP:0025633 ! Abnormal ureter morphology [Term] id: HP:0006000 name: Ureteral obstruction def: "Obstruction of the flow of urine through the ureter." [HPO:probinson] xref: Fyler:4492 xref: MSH:D014517 xref: SNOMEDCT_US:20018005 xref: UMLS:C0041956 is_a: HP:0025634 ! Abnormal ureter physiology [Term] id: HP:0006006 name: Hypotrophy of the small hand muscles synonym: "Degeneration of small hand muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1843228 is_a: HP:0001421 ! Abnormality of the musculature of the hand [Term] id: HP:0006008 name: Unilateral brachydactyly synonym: "Short digits on one side" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1868164 xref: UMLS:C4280467 is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0006009 name: Broad phalanx alt_id: HP:0006030 alt_id: HP:0006249 def: "Increased side-to-side width of one or more phalanges of the fingers or toes." [HPO:probinson] synonym: "Broad phalanges" EXACT [] synonym: "Wide digital bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide phalanges" EXACT [] synonym: "Widened phalanges" EXACT [] xref: UMLS:C1855185 is_a: HP:0005622 ! Broad long bones is_a: HP:0011297 ! Abnormal digit morphology [Term] id: HP:0006011 name: Cuboidal metacarpal def: "Severely shortened metacarpal with a cuboidal appearance." [HPO:probinson] comment: The metacarpals are normally tubular in appearance. synonym: "Short, cube shaped long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025093 is_a: HP:0010049 ! Short metacarpal [Term] id: HP:0006012 name: Widened metacarpal shaft synonym: "Broad shaft of long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1850159 is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006014 name: Abnormally shaped carpal bones synonym: "Abnormally shaped wrist bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1860111 is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0006016 name: Delayed phalangeal epiphyseal ossification def: "Delay in the process of formation and maturation of the epiphysis of one or more phalanx." [HPO:probinson] synonym: "Delayed bone maturation of end part of digital bone" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Delayed phalangeal epiphyseal bone maturation" EXACT [] xref: UMLS:C4021609 is_a: HP:0002663 ! Delayed epiphyseal ossification [Term] id: HP:0006019 name: Reduced proximal interphalangeal joint space synonym: "Decreased space in hinge joint" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1861396 is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand [Term] id: HP:0006026 name: Rounded epiphyses synonym: "Rounded end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1850632 is_a: HP:0005924 ! Abnormality of the epiphyses of the hand [Term] id: HP:0006028 name: Metaphyseal cupping of metacarpals alt_id: HP:0006131 def: "Metaphyseal cupping affecting the metacarpal bones." [HPO:curators] synonym: "Cupping of wide portion of long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Metacarpal/metaphyseal cupping" EXACT [] xref: UMLS:C1855171 is_a: HP:0003021 ! Metaphyseal cupping [Term] id: HP:0006035 name: Cone-shaped epiphyses of phalanges 2 to 5 synonym: "Cone-shaped end part of digital bones 2 to 5" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1857005 is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand [Term] id: HP:0006040 name: Long second metacarpal synonym: "Long 2nd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1861531 is_a: HP:0010036 ! Aplasia/Hypoplasia of the 2nd metacarpal [Term] id: HP:0006042 name: Y-shaped metacarpals def: "Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly." [HPO:curators] synonym: "Y-shaped long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1861373 is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006045 name: Short pointed phalanges synonym: "Short pointed digital bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1849740 is_a: HP:0009803 ! Short phalanx of finger [Term] id: HP:0006048 name: Distal widening of metacarpals def: "Abnormal increase in width of the distal region of the metacarpal bones." [HPO:curators] synonym: "Wide outermost end of long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1865254 is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006051 name: Metacarpal periosteal thickening xref: UMLS:C1834347 is_a: HP:0001163 ! Abnormality of the metacarpal bones is_a: HP:0030313 ! Abnormal periosteum morphology [Term] id: HP:0006055 name: Ulnar deviated club hands xref: UMLS:C1833881 is_a: HP:0009487 ! Ulnar deviation of the hand [Term] id: HP:0006059 name: Cone-shaped metacarpal epiphyses def: "A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones." [HPO:curators] synonym: "Cone-shaped end part of long bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Metacarpal cone-shaped epiphyses" RELATED [] xref: UMLS:C1855239 is_a: HP:0005913 ! Abnormality of metacarpal epiphyses is_a: HP:0010579 ! Cone-shaped epiphysis [Term] id: HP:0006060 name: Tombstone-shaped proximal phalanges synonym: "Tombstone-shaped innermost digital bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1862420 is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand [Term] id: HP:0006064 name: Limited interphalangeal movement synonym: "Limited movement of hinge joints" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1840089 is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand [Term] id: HP:0006067 name: Multiple carpal ossification centers def: "A delay in the process of formation and maturation of the epiphysis of one or more long bones." [HPO:probinson] xref: UMLS:C1835573 is_a: HP:0006257 ! Abnormality of carpal bone ossification [Term] id: HP:0006069 name: Severe carpal ossification delay synonym: "Severe delay in maturation of wrist bone" RELATED layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1866703 xref: UMLS:C4280466 is_a: HP:0001216 ! Delayed ossification of carpal bones [Term] id: HP:0006070 name: Metacarpophalangeal joint contracture alt_id: HP:0005674 def: "A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement." [HPO:probinson] comment: In the literature this has been called metacarpophalangeal camptodactyly, but the term camptodactyly should be researved for a painless flexion contracture of the proximal interphalangeal (PIP) joint. synonym: "Metacarpal/phalangeal joint contractures" EXACT [] xref: UMLS:C2677209 is_a: HP:0011911 ! Abnormality of metacarpophalangeal joint [Term] id: HP:0006077 name: Absent proximal finger flexion creases def: "Absence of the proximal interphalangeal flexion creases of the fingers." [HPO:probinson] xref: UMLS:C1850048 is_a: HP:0006109 ! Absent phalangeal crease [Term] id: HP:0006086 name: Thin metacarpal cortices xref: UMLS:C1850160 is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006088 name: 1-5 finger complete cutaneous syndactyly synonym: "Webbed 1-5 fingers" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1861357 is_a: HP:0010554 ! Cutaneous finger syndactyly [Term] id: HP:0006089 name: Palmar hyperhidrosis synonym: "Excessive sweating of hands" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1856953 is_a: HP:0000975 ! Hyperhidrosis is_a: HP:0040211 ! Abnormality of the skin of the palm [Term] id: HP:0006092 name: Malaligned carpal bone def: "Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna)." [HPO:sdoelken] synonym: "Incorrect alignment of wrist bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1856742 is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0006094 name: Finger joint hypermobility synonym: "Increased mobility in finger joint" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:298193009 xref: UMLS:C0574974 is_a: HP:0001167 ! Abnormality of finger is_a: HP:0001382 ! Joint hypermobility is_a: HP:0006256 ! Abnormality of hand joint mobility [Term] id: HP:0006095 name: Wide tufts of distal phalanges synonym: "Wide tips of outermost digital bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1835101 is_a: HP:0006200 ! Widened distal phalanges [Term] id: HP:0006097 name: 3-4 finger syndactyly alt_id: HP:0006133 def: "Syndactyly with fusion of fingers three and four." [HPO:sdoelken] synonym: "Partial or complete syndactyly 3rd-4th fingers" EXACT [] synonym: "Webbed 3rd-4th fingers" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1856889 is_a: HP:0006101 ! Finger syndactyly [Term] id: HP:0006099 name: Metacarpophalangeal joint hyperextensibility def: "Increased mobility of one ore more metacarpophalangeal joint." [HPO:probinson] xref: UMLS:C4025092 is_a: HP:0011911 ! Abnormality of metacarpophalangeal joint [Term] id: HP:0006101 name: Finger syndactyly alt_id: HP:0006057 def: "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \"Symphalangism\"." [HPO:curators] synonym: "Partial syndactyly" EXACT [] xref: SNOMEDCT_US:249769001 xref: SNOMEDCT_US:268251006 xref: SNOMEDCT_US:34048007 xref: UMLS:C0221352 is_a: HP:0001159 ! Syndactyly [Term] id: HP:0006106 name: Absent trapezoid bone xref: UMLS:C1847191 is_a: HP:0004256 ! Abnormality of the trapezoid bone [Term] id: HP:0006107 name: Fingerpad telangiectases alt_id: HP:0006246 def: "Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers." [HPO:curators] synonym: "Finger pad telangiectases" EXACT [] synonym: "Small dilated blood vessels in fingerpads" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1861248 is_a: HP:0100585 ! Telangiectasia of the skin [Term] id: HP:0006108 name: Tapered metacarpals def: "Metacarpal that becomes thinner toward the distal end." [HPO:probinson] synonym: "Tapered long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025091 is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006109 name: Absent phalangeal crease alt_id: HP:0006031 def: "Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers)." [HPO:probinson] synonym: "Absent interphalangeal creases" EXACT [] synonym: "Aplasia of the interphalangeal creases" RELATED [] xref: UMLS:C1862479 xref: UMLS:C4020821 is_a: HP:0006143 ! Abnormal finger flexion creases [Term] id: HP:0006110 name: Shortening of all middle phalanges of the fingers def: "Short (hypoplastic middle phalanx of finger, affecting all fingers." [HPO:probinson] synonym: "Disproportionately short middle phalanges" EXACT [] synonym: "Shortened middle finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1856912 is_a: HP:0005819 ! Short middle phalanx of finger [Term] id: HP:0006112 name: Expanded phalanges with widened medullary cavities xref: UMLS:C1969287 is_a: HP:0009768 ! Broad phalanges of the hand [Term] id: HP:0006114 name: Multiple palmar creases def: "The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease)." [HPO:probinson] synonym: "Multiple palm lines" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1861872 is_a: HP:0010490 ! Abnormality of the palmar creases [Term] id: HP:0006118 name: Shortening of all distal phalanges of the fingers alt_id: HP:0005658 def: "Hypoplasia of all of the distal phalanx of finger." [HPO:probinson] synonym: "Brachytelephalangy" RELATED [] synonym: "Shortening of all outermost bones of the fingers" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021608 is_a: HP:0009882 ! Short distal phalanx of finger [Term] id: HP:0006119 name: Proximal tapering of metacarpals def: "Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance." [HPO:sdoelken] subset: hposlim_core synonym: "Pointed innermost long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Pointed proximal metacarpals" EXACT [HPO:sdoelken] xref: UMLS:C1854749 is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006121 name: Acral ulceration alt_id: HP:0001226 alt_id: HP:0001862 alt_id: HP:0005040 def: "A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe." [PMID:20862203] xref: UMLS:C1860099 is_a: HP:0007460 ! Autoamputation of digits is_a: HP:0031917 ! Digital ulcer [Term] id: HP:0006127 name: Long proximal phalanx of finger def: "Increased length of the proximal phalanx of finger." [HPO:probinson] synonym: "Long innermost finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025090 is_a: HP:0006155 ! Long phalanx of finger is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand [Term] id: HP:0006129 name: Drumstick terminal phalanges def: "Rounding and broadening of the tufts of the distal phalanges." [HPO:probinson] comment: This designation is supposed to refer to the widening of the meaty end of a chicken drumstick (lower leg). synonym: "Drumstick shaped digital bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1844822 is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger [Term] id: HP:0006134 name: Enlarged metacarpal epiphyses def: "Abnormally large size of the metaphyseal epiphyses." [HPO:curators] synonym: "Enlarged end part of long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1865035 is_a: HP:0005913 ! Abnormality of metacarpal epiphyses is_a: HP:0010580 ! Enlarged epiphyses [Term] id: HP:0006135 name: Decreased finger mobility synonym: "Decreased finger mobility" EXACT layperson [] synonym: "Decreased finger movement" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1862133 is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0006136 name: Bilateral postaxial polydactyly xref: UMLS:C1855003 is_a: HP:0001162 ! Postaxial hand polydactyly [Term] id: HP:0006140 name: Premature fusion of phalangeal epiphyses def: "Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth." [HPO:probinson] synonym: "Premature fusion of end part of digital bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1855620 is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand is_a: HP:0010656 ! Abnormal epiphyseal ossification [Term] id: HP:0006143 name: Abnormal finger flexion creases xref: UMLS:C1859481 is_a: HP:0001167 ! Abnormality of finger [Term] id: HP:0006144 name: Shortening of all proximal phalanges of the fingers alt_id: HP:0006021 def: "Congenital hypoplasia of proximal phalanx of finger or all fingers." [HPO:probinson] synonym: "Shortening of all innermost bones of the fingers" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025089 is_a: HP:0010241 ! Short proximal phalanx of finger [Term] id: HP:0006145 name: Central Y-shaped metacarpal def: "A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal." [HPO:curators] synonym: "Y-shaped central long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1848597 is_a: HP:0006042 ! Y-shaped metacarpals [Term] id: HP:0006146 name: Broad metacarpal epiphyses def: "Increased side-to-side width of the metacarpal epiphyses." [HPO:probinson] synonym: "Broad end part of long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025088 is_a: HP:0005913 ! Abnormality of metacarpal epiphyses [Term] id: HP:0006147 name: Progressive fusion 2nd-5th pip joints xref: UMLS:C1861310 is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand [Term] id: HP:0006149 name: Increased laxity of fingers xref: UMLS:C1850855 is_a: HP:0006094 ! Finger joint hypermobility [Term] id: HP:0006150 name: Swan neck-like deformities of the fingers def: "A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke." [HPO:curators] xref: UMLS:C1849152 is_a: HP:0001167 ! Abnormality of finger [Term] id: HP:0006152 name: Proximal symphalangism of hands alt_id: HP:0006005 def: "The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases." [HPO:sdoelken] synonym: "Fused innermost hinge joints" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Proximal interphalangeal joint synostoses" EXACT [] xref: UMLS:C4021607 is_a: HP:0009700 ! Finger symphalangism is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand is_a: HP:0100264 ! Proximal symphalangism [Term] id: HP:0006153 name: Disharmonious carpal bone synonym: "Disharmonious wrist bone" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C2675549 is_a: HP:0006014 ! Abnormally shaped carpal bones [Term] id: HP:0006155 name: Long phalanx of finger def: "Increased length of multiple or a single phalanx of finger." [HPO:probinson] synonym: "Long finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025087 is_a: HP:0005918 ! Abnormal finger phalanx morphology [Term] id: HP:0006156 name: Ulnar deviation of thumb def: "Bending or curvature of a thumb towards the ulnar side (towards the ring finger)." [HPO:probinson, pmid:10955488] synonym: "Curved thumb deviated towards palm" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Ulnar deviation of the 1st finger" EXACT [] xref: SNOMEDCT_US:299137000 xref: UMLS:C0575904 xref: UMLS:C4280465 is_a: HP:0009465 ! Ulnar deviation of finger [Term] id: HP:0006157 name: Prominent palmar flexion creases synonym: "Prominent life line" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1865131 xref: UMLS:C4280464 is_a: HP:0010490 ! Abnormality of the palmar creases [Term] id: HP:0006158 name: obsolete Finger joint hyperextensibility is_obsolete: true [Term] id: HP:0006159 name: Mesoaxial hand polydactyly alt_id: HP:0001496 alt_id: HP:0004056 def: "The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly." [HPO:probinson] subset: hposlim_core synonym: "Central hand polydactyly" RELATED [] synonym: "Interdigital finger polydactyly" EXACT [] xref: UMLS:C4021606 is_a: HP:0001161 ! Hand polydactyly is_a: HP:0100260 ! Mesoaxial polydactyly [Term] id: HP:0006160 name: Irregular metacarpals def: "Irregular morphology of one or more metacarpal bones." [HPO:probinson] synonym: "Irregular long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025086 is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006161 name: Short metacarpals with rounded proximal ends synonym: "Short long bone of hand with rounded innermost ends" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1856471 is_a: HP:0010049 ! Short metacarpal [Term] id: HP:0006162 name: Soft tissue swelling of interphalangeal joints synonym: "Soft tissue swelling of hinge joints" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1854913 is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand [Term] id: HP:0006163 name: Enlarged metacarpophalangeal joints xref: UMLS:C1859700 is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand [Term] id: HP:0006165 name: Proportionate shortening of all digits synonym: "Proportionate shortening of all digits" EXACT layperson [] xref: UMLS:C1862157 is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers [Term] id: HP:0006166 name: Tubular metacarpal bones synonym: "Cylindrical shaped long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1859369 is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006167 name: Prominent proximal interphalangeal joints synonym: "Prominent innermost hinge joints" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025085 is_a: HP:0006237 ! Prominent interphalangeal joints [Term] id: HP:0006169 name: Decreased mobility 3rd-5th fingers synonym: "Decreased mobility 3rd-5th fingers" EXACT layperson [] xref: UMLS:C1833882 is_a: HP:0006135 ! Decreased finger mobility [Term] id: HP:0006170 name: Chess-pawn distal phalanges def: "A morphological abnormality of distal phalanges such that they have the appearance of chess pawns." [HPO:probinson] synonym: "Chess-pawn shaped outermost bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1862097 is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger [Term] id: HP:0006172 name: Flattened, squared-off epiphyses of tubular bones synonym: "Flattened, squared-off end part of tubular bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1834961 is_a: HP:0003053 ! Epiphyseal deformities of tubular bones is_a: HP:0003071 ! Flattened epiphysis [Term] id: HP:0006174 name: Metacarpal diaphyseal endosteal sclerosis def: "Increase in bone denisty in the diaphyseal (shaft) region of a metacarpal bone." [HPO:probinson] xref: UMLS:C1840419 is_a: HP:0005916 ! Abnormal metacarpal morphology is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0006175 name: Proximal phalangeal periosteal thickening synonym: "Thickening of connective tissue of innermost finger bone" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1834348 xref: UMLS:C4280463 is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand is_a: HP:0030313 ! Abnormal periosteum morphology [Term] id: HP:0006176 name: Two carpal ossification centers present at birth xref: UMLS:C1839285 is_a: HP:0006257 ! Abnormality of carpal bone ossification [Term] id: HP:0006179 name: Pseudoepiphyses of second metacarpal synonym: "Extra bone on end of second long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1862693 is_a: HP:0009193 ! Pseudoepiphyses of the metacarpals [Term] id: HP:0006180 name: Crowded carpal bones synonym: "Crowded wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1863317 is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0006184 name: Decreased palmar creases alt_id: HP:0006178 def: "Poorly defined or shallow palmar creases." [pmid:19125433] subset: hposlim_core synonym: "Hypoplastic palmar creases" EXACT [] synonym: "Poorly formed palmar creases" EXACT [] synonym: "Shallow palm line" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Shallow palmar creases" EXACT [HPO:skoehler] xref: UMLS:C1857483 is_a: HP:0010488 ! Aplasia/Hypoplasia of the palmar creases [Term] id: HP:0006185 name: Enlarged proximal interphalangeal joints synonym: "Enlarged innermost hinge joint" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1861350 is_a: HP:0006247 ! Enlarged interphalangeal joints [Term] id: HP:0006187 name: Fusion of midphalangeal joints xref: UMLS:C1861332 is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand [Term] id: HP:0006189 name: Prominent interdigital folds xref: UMLS:C1866000 is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0006190 name: Radially deviated wrists xref: UMLS:C1861316 is_a: HP:0009486 ! Radial deviation of the hand [Term] id: HP:0006191 name: Deep palmar crease def: "Excessively deep creases of the palm." [pmid:19125433] subset: hposlim_core synonym: "Deep palm line" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Deep palmar creases" EXACT [] xref: UMLS:C1857539 is_a: HP:0010490 ! Abnormality of the palmar creases [Term] id: HP:0006192 name: Tapered phalanx of finger def: "Phalanges of the fingers becoming thinner toward the distal end." [HPO:probinson] synonym: "Tapered finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025084 is_a: HP:0005918 ! Abnormal finger phalanx morphology [Term] id: HP:0006193 name: Thimble-shaped middle phalanges of hand def: "The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat." [HPO:probinson] synonym: "Thimble-shaped middle bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025083 is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand [Term] id: HP:0006200 name: Widened distal phalanges synonym: "Widened outermost bone of limb" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1862421 is_a: HP:0006009 ! Broad phalanx [Term] id: HP:0006201 name: Hypermobility of distal interphalangeal joints synonym: "Increased mobility of outermost hinge joint" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1851811 is_a: HP:0005620 ! Hypermobility of interphalangeal joints [Term] id: HP:0006202 name: Osteolysis of scaphoids xref: UMLS:C4025082 is_a: HP:0004243 ! Abnormality of the scaphoid is_a: HP:0009699 ! Osteolytic defects of the hand bones [Term] id: HP:0006203 name: Decreased movement range in interphalangeal joints synonym: "Decreased range of movement range in hinge joints" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1836772 is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0006135 ! Decreased finger mobility [Term] id: HP:0006205 name: Irregular phalanges def: "Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance." [HPO:probinson] synonym: "Irregular finger bones" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4025081 is_a: HP:0005918 ! Abnormal finger phalanx morphology [Term] id: HP:0006206 name: Hypersegmentation of proximal phalanx of second finger def: "Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger." [HPO:probinson] comment: This anomaly is characteristic for brachydactyly type C. xref: UMLS:C4025080 is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger [Term] id: HP:0006207 name: Partial fusion of carpals xref: UMLS:C1844519 is_a: HP:0009702 ! Carpal synostosis [Term] id: HP:0006208 name: Metaphyseal cupping of proximal phalanges def: "Metaphyseal cupping affecting the proximal phalanges." [HPO:curators] xref: UMLS:C1834980 is_a: HP:0003021 ! Metaphyseal cupping [Term] id: HP:0006209 name: Partial-complete absence of 5th phalanges synonym: "Partial-complete absence of 5th digital bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1867928 is_a: HP:0006262 ! Aplasia/Hypoplasia of the 5th finger [Term] id: HP:0006210 name: Postaxial oligodactyly xref: UMLS:C1867927 is_a: HP:0001180 ! Hand oligodactyly [Term] id: HP:0006213 name: Thin proximal phalanges with broad epiphyses of the hand comment: removed the logical def: 'has part' some (('decreased thickness' and ('inheres in' some 'proximal phalanx of manus') and ('has modifier' some abnormal)) and ('has part' some ('increased width' and ('inheres in' some 'epiphysis of proximal phalanx of manus'))) and ('has modifier' some abnormal)) synonym: "Thin innermost bone with broad end part of the hand bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Thin proximal phalanges with broad epiphyses" BROAD [] xref: UMLS:C1862156 xref: UMLS:C4025079 is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand [Term] id: HP:0006216 name: Single interphalangeal crease of fifth finger alt_id: HP:0006245 def: "Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger." [HPO:probinson] synonym: "Fifth finger single interphalangeal crease" EXACT [] xref: UMLS:C1850336 is_a: HP:0006109 ! Absent phalangeal crease [Term] id: HP:0006217 name: Limited mobility of proximal interphalangeal joint synonym: "Limited mobility of innermost hinge joint" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1857288 is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand [Term] id: HP:0006224 name: Tapering pointed ends of distal finger phalanges def: "A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms)." [HPO:probinson, pmid:10662807] xref: UMLS:C4025078 is_a: HP:0009884 ! Tapered distal phalanges of finger [Term] id: HP:0006226 name: Osteoarthritis of the first carpometacarpal joint xref: SNOMEDCT_US:37895003 xref: UMLS:C0409956 is_a: HP:0004268 ! Osteoarthritis of the small joints of the hand [Term] id: HP:0006228 name: Valgus hand deformity xref: UMLS:C1860179 is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0006230 name: Unilateral oligodactyly xref: UMLS:C3805861 is_a: HP:0001180 ! Hand oligodactyly [Term] id: HP:0006232 name: Expanded metacarpals with widened medullary cavities xref: UMLS:C1969288 is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006233 name: Osteoarthritis of the distal interphalangeal joint xref: SNOMEDCT_US:239869009 xref: UMLS:C0409957 is_a: HP:0004268 ! Osteoarthritis of the small joints of the hand [Term] id: HP:0006234 name: Osteolysis involving tarsal bones alt_id: HP:0001858 def: "An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones." [HPO:sdoelken] synonym: "Tarsal bone osteolysis" EXACT [] synonym: "Tarsal osteolysis" EXACT [] xref: UMLS:C1833735 is_a: HP:0001850 ! Abnormality of the tarsal bones is_a: HP:0009134 ! Osteolysis involving bones of the feet created_by: peter creation_date: 2008-04-17T02:39:00Z [Term] id: HP:0006236 name: Slender metacarpals def: "Decreased width of the metacarpal bones (that is, reduced diameter)." [HPO:probinson] synonym: "Slender long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025077 is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006237 name: Prominent interphalangeal joints synonym: "Prominent hinge joints" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1859115 is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand [Term] id: HP:0006239 name: Shortening of all middle phalanges of the toes def: "Abnormal shortening of all middle phalanges of toes." [HPO:probinson] synonym: "Brachymesophalangy of feet" EXACT [] synonym: "Shortening of all the middle bones of the toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021605 is_a: HP:0003795 ! Short middle phalanx of toe [Term] id: HP:0006243 name: Phalangeal dislocation xref: UMLS:C2673396 is_a: HP:0001373 ! Joint dislocation is_a: HP:0005918 ! Abnormal finger phalanx morphology [Term] id: HP:0006247 name: Enlarged interphalangeal joints synonym: "Enlarged hinge joints" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1859701 is_a: HP:0003037 ! Enlarged joints is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand [Term] id: HP:0006248 name: Limited wrist movement def: "An abnormal limitation of the mobility of the wrist." [HPO:probinson] subset: hposlim_core synonym: "Limited movement of the wrist" EXACT layperson [] synonym: "Limited wrist movement" EXACT layperson [] xref: UMLS:C1840088 is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0006251 name: Limited wrist extension xref: UMLS:C1862481 is_a: HP:0006248 ! Limited wrist movement [Term] id: HP:0006252 name: Interphalangeal joint erosions xref: UMLS:C1850158 is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand [Term] id: HP:0006253 name: Swelling of proximal interphalangeal joints synonym: "Swelling of innermost hinge joints" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1860841 is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand [Term] id: HP:0006254 name: Elevated alpha-fetoprotein def: "An increased concentration of alpha-fetoprotein." [HPO:gcarletti] comment: An elevation of alpha-feto protein, which is produced by the fetal liver and the yolk sac and may be increased in the serum of pregnant women with a fetus with some types of developmental anomaly such as open neural tube defects and omphalocele. synonym: "Alpha fetoprotein abnormal" RELATED [] synonym: "Increased levels of alpha fetoprotein" EXACT [] synonym: "Increased serum alpha-fetoprotein" EXACT [] synonym: "Serum alpha-fetoprotein increased" EXACT [] xref: UMLS:C0235971 xref: UMLS:C0476489 is_a: HP:0045056 ! Abnormal levels of alpha-fetoprotein created_by: peter creation_date: 2008-03-28T09:17:00Z [Term] id: HP:0006256 name: Abnormality of hand joint mobility synonym: "Abnormality of hand joint mobility" EXACT layperson [] xref: UMLS:C4025076 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0011729 ! Abnormality of joint mobility created_by: peter creation_date: 2008-03-28T10:14:00Z [Term] id: HP:0006257 name: Abnormality of carpal bone ossification synonym: "Abnormal ankle bone maturation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025075 is_a: HP:0001191 ! Abnormality of the carpal bones is_a: HP:0010660 ! Abnormal hand bone ossification created_by: peter creation_date: 2008-03-28T02:29:00Z [Term] id: HP:0006261 name: Abnormal phalangeal joint morphology of the hand alt_id: HP:0004266 synonym: "Abnormality of phalangeal joints of the hand" EXACT [] synonym: "Abnormality of the small joints of the hand" EXACT layperson [] xref: UMLS:C4021604 is_a: HP:0005918 ! Abnormal finger phalanx morphology created_by: peter creation_date: 2008-03-28T02:55:00Z [Term] id: HP:0006262 name: Aplasia/Hypoplasia of the 5th finger def: "A small/hypoplastic or absent/aplastic 5th finger." [HPO:sdoelken] synonym: "Absent/small little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/small pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/small pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025074 is_a: HP:0004207 ! Abnormal 5th finger morphology is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers created_by: peter creation_date: 2008-03-28T02:59:00Z [Term] id: HP:0006263 name: Abnormality of the epiphyses of the 2nd finger def: "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 2nd finger." [HPO:curators] synonym: "Abnormality of the end part of the index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025073 is_a: HP:0004100 ! Abnormal 2nd finger morphology is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand created_by: peter creation_date: 2008-03-28T03:04:00Z [Term] id: HP:0006264 name: Aplasia/Hypoplasia of the 2nd finger def: "A small/hypoplastic or absent/aplastic 2nd finger." [HPO:curators] synonym: "Absent/small index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025072 is_a: HP:0004100 ! Abnormal 2nd finger morphology is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers created_by: peter creation_date: 2008-03-28T03:06:00Z [Term] id: HP:0006265 name: Aplasia/Hypoplasia of fingers def: "Small/hypoplastic or absent/aplastic fingers." [HPO:curators] synonym: "Absent/small fingers" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped fingers" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025071 is_a: HP:0001167 ! Abnormality of finger is_a: HP:0005927 ! Aplasia/hypoplasia involving bones of the hand created_by: peter creation_date: 2008-03-28T03:09:00Z [Term] id: HP:0006266 name: Small placenta def: "Reduced size of the placenta." [HPO:probinson] synonym: "Small placenta" EXACT layperson [] xref: SNOMEDCT_US:289264006 xref: UMLS:C0566694 is_a: HP:0012767 ! Abnormal placental size [Term] id: HP:0006267 name: Large placenta def: "Increased size of the placenta." [HPO:probinson] synonym: "Large placenta" EXACT layperson [] synonym: "Placental enlargement" EXACT [] xref: SNOMEDCT_US:289263000 xref: UMLS:C0566693 is_a: HP:0012767 ! Abnormal placental size [Term] id: HP:0006268 name: Fluctuating splenomegaly def: "Intermittently increased size of the spleen." [HPO:probinson] xref: UMLS:C1835882 is_a: HP:0001744 ! Splenomegaly [Term] id: HP:0006270 name: Hypoplastic spleen def: "Underdevelopment of the spleen." [HPO:curators] synonym: "Underdeveloped spleen" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1970617 is_a: HP:0010451 ! Aplasia/Hypoplasia of the spleen [Term] id: HP:0006273 name: Pancreatic lymphangiectasis def: "The presence of lymphangiectasis in the pancreas." [HPO:probinson] xref: UMLS:C1856162 is_a: HP:0012090 ! Abnormal pancreas morphology is_a: HP:0031842 ! Lymphangiectasis [Term] id: HP:0006274 name: Reduced pancreatic beta cells def: "Reduced number of beta cells in the pancreatic islets of Langerhans." [HPO:probinson] comment: The beta cells are responsible for producing insulin and amylin. xref: UMLS:C1856904 is_a: HP:0006476 ! Abnormality of the pancreatic islet cells [Term] id: HP:0006276 name: Hyperechogenic pancreas xref: UMLS:C1857945 is_a: HP:0012090 ! Abnormal pancreas morphology [Term] id: HP:0006277 name: Pancreatic hyperplasia def: "Hyperplasia of the pancreas." [HPO:probinson] comment: Hyperplasia is defined in MPATH as an increase in cell numbers in comparison to normal as a consequence of increased cell proliferation. Hyperplasia is a non -neoplastic process. xref: UMLS:C1851733 is_a: HP:0012094 ! Abnormal pancreas size [Term] id: HP:0006278 name: Ectopic pancreatic tissue def: "The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut." [HPO:curators] synonym: "Abnormal pancreas location" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:264304000 xref: UMLS:C0994638 is_a: HP:0012090 ! Abnormal pancreas morphology [Term] id: HP:0006279 name: Beta-cell dysfunction xref: UMLS:C1969875 is_a: HP:0006476 ! Abnormality of the pancreatic islet cells [Term] id: HP:0006280 name: Chronic pancreatitis def: "A chronic form of pancreatitis." [HPO:probinson] synonym: "Chronic pancreas inflammation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D050500 xref: SNOMEDCT_US:233870001 xref: SNOMEDCT_US:234689009 xref: SNOMEDCT_US:235494005 xref: UMLS:C0149521 is_a: HP:0001733 ! Pancreatitis [Term] id: HP:0006282 name: Generalized hypoplasia of dental enamel def: "A generalized form of developmental hypoplasia of the dental enamel." [HPO:ibailleulforestier] synonym: "Generalized dysplasia of tooth enamel" RELATED [ORCID:0000-0001-5889-4463] synonym: "Generalized hypoplasia of tooth enamel" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025070 xref: UMLS:C4280462 is_a: HP:0006297 ! Hypoplasia of dental enamel [Term] id: HP:0006283 name: Multiple unerupted teeth def: "The presence of multiple embedded tooth germs which have failed to erupt." [HPO:ibailleulforestier] synonym: "Failure of eruption of multiple teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Multiple non-erupting teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Multiple unerupted teeth" EXACT layperson [] xref: UMLS:C4025069 is_a: HP:0000706 ! Unerupted tooth [Term] id: HP:0006285 name: Hypomineralization of enamel alt_id: HP:0006359 def: "A decreased amount of enamel mineralization." [HPO:probinson] synonym: "Decreased enamel mineralisation" EXACT [] synonym: "Fluorosis of tooth enamel" RELATED [ORCID:0000-0001-5889-4463] synonym: "Increased porosity of tooth enamel" NARROW [ORCID:0000-0001-5889-4463] synonym: "Mottled tooth enamel" EXACT [ORCID:0000-0001-5889-4463] synonym: "Poorly mineralized tooth enamel" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "White spot lesions of tooth enamel" RELATED [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:109487003 xref: UMLS:C3665628 xref: UMLS:C4280253 xref: UMLS:C4280460 xref: UMLS:C4280461 is_a: HP:0000682 ! Abnormality of dental enamel [Term] id: HP:0006286 name: Yellow-brown discoloration of the teeth synonym: "Yellow-brown discoloration of the teeth" EXACT layperson [] synonym: "Yellow-brown discolored teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Yellow-brown tooth shade" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1863008 is_a: HP:0011073 ! Abnormality of dental color [Term] id: HP:0006288 name: Advanced eruption of teeth alt_id: HP:0006317 def: "Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age." [HPO:ibailleulforestier, pmid:19125428] comment: There are established norms for the timing of eruption in both deciduous and permanent teeth [Garn and Rohmann, [1966]; Lunt and Law, [1974]; McDonald et al. [2004]]. Eruption is defined by the appearance of a tooth that has pierced the gum. synonym: "Advanced dental eruption" EXACT [ORCID:0000-0001-5889-4463] synonym: "Early dental eruption" EXACT [ORCID:0000-0001-5889-4463] synonym: "Early eruption of teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Eruption, advanced" EXACT [] synonym: "Premature dental eruption" EXACT [ORCID:0000-0001-5889-4463] synonym: "Premature eruption of teeth" EXACT [] synonym: "Premature tooth eruption" EXACT [] xref: SNOMEDCT_US:16000003 xref: UMLS:C0266054 is_a: HP:0006292 ! Abnormality of dental eruption [Term] id: HP:0006289 name: Agenesis of central incisor alt_id: HP:0006320 def: "Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor." [HPO:ibailleulforestier] synonym: "Absent central incisor" EXACT layperson [] synonym: "Absent central incisors" RELATED layperson [] synonym: "Failure of development of central incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing central incisors" RELATED layperson [] xref: UMLS:C1855000 xref: UMLS:C4020819 is_a: HP:0006485 ! Agenesis of incisor [Term] id: HP:0006290 name: Discolored lateral incisors def: "The presence of discolored lateral incisors." [HPO:ibailleulforestier] synonym: "Abnormality of color of front teeth" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of color of lateral incisor" BROAD [ORCID:0000-0001-5889-4463] synonym: "Abnormality of shade of lateral incisor" BROAD [ORCID:0000-0001-5889-4463] synonym: "Discolored front teeth" BROAD layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1866510 xref: UMLS:C4280459 is_a: HP:0011063 ! Abnormality of incisor morphology [Term] id: HP:0006291 name: Marked delay in eruption of permanent teeth synonym: "Severe delay of eruption of adult teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Severe delay of eruption of permanent teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Very late eruption of adult teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Very late eruption of permanent teeth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1863009 is_a: HP:0000696 ! Delayed eruption of permanent teeth [Term] id: HP:0006292 name: Abnormality of dental eruption def: "An abnormality of tooth eruption." [HPO:ibailleulforestier] comment: The average ages for eruption of the primary teeth are: 6 months: lower central incisor, 7 months: upper central incisor, 8 months: upper lateral incisor, 9 months: lower lateral incisor, 12 months first molars, 18 months, canines, 2 years, second molars. synonym: "Abnormal dental eruption" EXACT [] synonym: "Abnormality of tooth eruption" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Anomaly of dental eruption" NARROW [ORCID:0000-0001-5889-4463] synonym: "Anomaly of tooth eruption" NARROW [ORCID:0000-0001-5889-4463] synonym: "Disorder of dental eruption" NARROW [ORCID:0000-0001-5889-4463] synonym: "Disorder of tooth eruption" NARROW [ORCID:0000-0001-5889-4463] synonym: "Disturbance of dental eruption" RELATED [ORCID:0000-0001-5889-4463] synonym: "Disturbance of tooth eruption" RELATED layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:1086101000119107 xref: SNOMEDCT_US:234949000 xref: UMLS:C0012767 xref: UMLS:C1859363 xref: UMLS:C3874458 is_a: HP:0000164 ! Abnormality of the dentition [Term] id: HP:0006293 name: Agenesis of maxillary central incisor def: "Agenesis of upper secondary incisor or of upper central primary incisor." [HPO:ibailleulforestier] synonym: "Absence of maxillary central incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Failure of development of maxillary central incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing maxillary central incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Missing upper central incisor" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025068 xref: UMLS:C4280458 is_a: HP:0006289 ! Agenesis of central incisor is_a: HP:0200160 ! Agenesis of maxillary incisor [Term] id: HP:0006297 name: Hypoplasia of dental enamel alt_id: HP:0000671 alt_id: HP:0001565 alt_id: HP:0003770 def: "Developmental hypoplasia of the dental enamel." [HPO:ibailleulforestier, pmid:18499550] comment: Note that the term enamel dysplasia was previously used for this feature but is no longer recommended. synonym: "Defective enamel matrix" BROAD [ORCID:0000-0001-5889-4463] synonym: "Dental enamel hypoplasia" EXACT [] synonym: "Dysplasia of tooth enamel" RELATED [ORCID:0000-0001-5889-4463] synonym: "Enamel dysplasia" RELATED [] synonym: "Enamel hypoplasia" EXACT [] synonym: "Hypoplasia of tooth enamel" EXACT [ORCID:0000-0001-5889-4463] synonym: "Thin dental enamel" BROAD layperson [] synonym: "Thin tooth enamel" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Underdeveloped teeth enamel" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D003744 xref: SNOMEDCT_US:26597004 xref: SNOMEDCT_US:699382004 xref: SNOMEDCT_US:699421005 xref: UMLS:C0011351 xref: UMLS:C1851854 xref: UMLS:C4280456 xref: UMLS:C4280457 is_a: HP:0000682 ! Abnormality of dental enamel is_a: HP:0000685 ! Hypoplasia of teeth [Term] id: HP:0006298 name: Prolonged bleeding after dental extraction def: "Prolonged bleeding post dental extraction sufficient to require medical intervention." [HPO:probinson, WWW:wouwehand] synonym: "Prolonged bleeding after dental extraction" EXACT layperson [] xref: UMLS:C1969572 is_a: HP:0011890 ! Prolonged bleeding following procedure [Term] id: HP:0006302 name: Dagger-shaped pulp calcifications def: "Dagger-shaped calcifications in the dental pulp." [HPO:ibailleulforestier] synonym: "Dagger shaped pulp denticles" EXACT [ORCID:0000-0001-5889-4463] synonym: "Dagger shaped pulp stones" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025067 is_a: HP:0006479 ! Abnormality of the dental pulp [Term] id: HP:0006304 name: Widely-spaced incisors synonym: "Anterior diastema of teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Diastema between front teeth" NARROW [ORCID:0000-0001-5889-4463] synonym: "Diastema between incisors" NARROW [ORCID:0000-0001-5889-4463] synonym: "Gap between front teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Widely spaced front teeth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:196409003 xref: UMLS:C0399545 is_a: HP:0000699 ! Diastema is_a: HP:0040159 ! Abnormal spaced incisors [Term] id: HP:0006308 name: Atrophy of alveolar ridges synonym: "Alveolar bone loss" RELATED [] synonym: "Atrophy of alveolar margins" EXACT [ORCID:0000-0001-5889-4463] synonym: "Atrophy of alveolar processes of jaw" EXACT [ORCID:0000-0001-5889-4463] synonym: "Flattening of alveolar margin" RELATED [ORCID:0000-0001-5889-4463] synonym: "Flattening of alveolar processes of jaw" RELATED [ORCID:0000-0001-5889-4463] synonym: "Flattening of alveolar ridges" RELATED [ORCID:0000-0001-5889-4463] synonym: "Flattening of gum ridges" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Resorption of alveolar margins" EXACT [ORCID:0000-0001-5889-4463] synonym: "Resorption of alveolar processes of jaw" EXACT [ORCID:0000-0001-5889-4463] synonym: "Resorption of alveolar ridges" EXACT [ORCID:0000-0001-5889-4463] synonym: "Shrinking of alveolar ridges" EXACT [ORCID:0000-0001-5889-4463] synonym: "Shrinking of gum ridges" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1855642 xref: UMLS:C4280454 xref: UMLS:C4280455 is_a: HP:0006477 ! Abnormality of the alveolar ridges [Term] id: HP:0006311 name: Generalized microdontia def: "A generalized form of microdontia." [HPO:ibailleulforestier] synonym: "Decreased size of all teeth" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased tooth mass" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased width of all teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Hypotrophy of all teeth" BROAD [ORCID:0000-0001-5889-4463] synonym: "Tooth mass insufficiency" BROAD [ORCID:0000-0001-5889-4463] xref: UMLS:C4025065 is_a: HP:0000691 ! Microdontia [Term] id: HP:0006313 name: Widely spaced primary teeth def: "Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia." [HPO:ibailleulforestier] synonym: "Generalized spacing of primary teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Wide gaps between baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Wide gaps between primary teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Widely spaced baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Widely spaced deciduous teeth" EXACT [] synonym: "Widely spaced milk teeth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021603 is_a: HP:0000687 ! Widely spaced teeth is_a: HP:0006481 ! Abnormality of primary teeth [Term] id: HP:0006315 name: Single median maxillary incisor alt_id: HP:0001568 alt_id: HP:0001573 alt_id: HP:0006356 def: "The presence of a single, median maxillary incisor, affecting both the primary maxillary incisor and the permanent maxillary incisor." [pmid:19125428] comment: If a single maxillary central incisor is present but not positioned in the midline, this could be hypodontia, but this cannot be evaluated without a radiograph. subset: hposlim_core synonym: "Only one upper front tooth" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Single central incisor" EXACT [] synonym: "Single central upper incisor" EXACT [] synonym: "Single maxillary central incisor" EXACT [] synonym: "Single median incisor" EXACT [] synonym: "Single median maxillary central incisor" EXACT [] synonym: "Single midline maxillary incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Single midline upper front tooth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Solitary median maxillary central incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Solitary median maxillary central incisor syndrome" NARROW [ORCID:0000-0001-5889-4463] synonym: "Solitary midline maxillary central incisor" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:C537342 xref: SNOMEDCT_US:707609006 xref: UMLS:C1840235 is_a: HP:0011064 ! Abnormal number of incisors [Term] id: HP:0006316 name: Irregularly spaced teeth alt_id: HP:0009081 def: "Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth." [HPO:ibailleulforestier] synonym: "Irregular dental spacing" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Irregularly spaced teeth" EXACT layperson [] synonym: "Variability of dental spacing" EXACT [ORCID:0000-0001-5889-4463] synonym: "Variability of spacing between teeth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1845878 is_a: HP:0000692 ! Misalignment of teeth [Term] id: HP:0006321 name: Multiple non-erupting secondary teeth synonym: "Failure of eruption of multiple adult teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of eruption of multiple permanent teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Multiple non-erupting adult teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Multiple non-erupting permanent teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Multiple unerupted adult teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Multiple unerupted permanent teeth" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1848904 is_a: HP:0000696 ! Delayed eruption of permanent teeth [Term] id: HP:0006323 name: Premature loss of primary teeth alt_id: HP:0006319 alt_id: HP:0006351 def: "Loss of the primary (also known as deciduous) teeth before the usual age." [HPO:sdoelken] comment: The primary teeth are usually shed and replaced by the permanent teeth, usually by the age of six years. With premature loss of primary teeth, there is a delay between the loss of the primary teeth and the eruption of the permanent teeth. subset: hposlim_core synonym: "Early loss of baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Early loss of deciduous teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Early loss of primary teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Premature deciduous tooth loss" EXACT [] synonym: "Premature exfoliation of deciduous teeth" NARROW [ORCID:0000-0001-5889-4463] synonym: "Premature exfoliation of primary teeth" NARROW [ORCID:0000-0001-5889-4463] synonym: "Premature loss of baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Premature loss of deciduous teeth" EXACT [] xref: SNOMEDCT_US:122483006 xref: SNOMEDCT_US:39034005 xref: UMLS:C0266052 is_a: HP:0006480 ! Premature loss of teeth is_a: HP:0006481 ! Abnormality of primary teeth [Term] id: HP:0006326 name: Buried teeth encased in mucopolysaccharide synonym: "Failure of dental eruption due to mucopolysaccharidoses" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of tooth eruption due to mucopolysaccharidoses" EXACT [ORCID:0000-0001-5889-4463] synonym: "Impacted teeth due to mucopolysaccharidoses" EXACT [ORCID:0000-0001-5889-4463] synonym: "Unerupted dentition due to mucopolysaccharidoses" EXACT [ORCID:0000-0001-5889-4463] synonym: "Unerupted teeth due to mucopolysaccharidoses" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025064 is_a: HP:0000164 ! Abnormality of the dentition [Term] id: HP:0006329 name: Alveolar process hypoplasia alt_id: HP:0006312 def: "Underdevelopment of the alveolar process (also known as alveolar bone)." [HPO:probinson] comment: The alveolar process is a thickened ridge of bone that contains the tooth sockets on the mandible and maxilla. synonym: "Decreased size of alveolar process of jaw" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased size of alveolar ridge" EXACT [ORCID:0000-0001-5889-4463] synonym: "Deficiency of alveolar process of jaw" RELATED [ORCID:0000-0001-5889-4463] synonym: "Deficiency of alveolar ridge" RELATED [ORCID:0000-0001-5889-4463] synonym: "Hypoplasia of alveolar ridge" EXACT [] synonym: "Hypoplastic alveolar bone" EXACT [] synonym: "Hypotrophic alveolar process of jaw" RELATED [ORCID:0000-0001-5889-4463] synonym: "Hypotrophic alveolar ridge" RELATED [ORCID:0000-0001-5889-4463] synonym: "Small alveolar process of jaw" EXACT [ORCID:0000-0001-5889-4463] synonym: "Small alveolar ridge" EXACT [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of alveolar process of jaw" EXACT [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of alveolar ridge" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:708494003 xref: UMLS:C1848905 xref: UMLS:C3872671 xref: UMLS:C4280451 xref: UMLS:C4280452 xref: UMLS:C4280453 is_a: HP:0006477 ! Abnormality of the alveolar ridges [Term] id: HP:0006330 name: Rotated maxillary central incisors synonym: "Rotated upper central incisors" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Rotated upper front teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Turned upper front teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Twisted upper front teeth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025063 is_a: HP:0011062 ! Misalignment of incisors [Term] id: HP:0006332 name: Supernumerary maxillary incisor def: "The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor." [HPO:ibailleulforestier] synonym: "Extra upper front tooth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025062 is_a: HP:0011064 ! Abnormal number of incisors is_a: HP:0011069 ! Increased number of teeth [Term] id: HP:0006333 name: Crowded maxillary incisors def: "A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor." [HPO:ibailleulforestier] synonym: "Crowded upper front teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Crowded upper incisors" EXACT layperson [] synonym: "Overlapped maxillary incisors" EXACT [ORCID:0000-0001-5889-4463] synonym: "Overlapped upper front teeth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021602 is_a: HP:0011062 ! Misalignment of incisors [Term] id: HP:0006334 name: Hypoplasia of the primary teeth alt_id: HP:0006318 def: "Developmental hypoplasia of the primary teeth." [HPO:ibailleulforestier] synonym: "Decreased size of baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased size of deciduous teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased size of milk teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased size of primary teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypoplastic deciduous teeth" EXACT [] synonym: "Small baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Small milk teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Small primary teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of milk teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of primary teeth" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1855694 is_a: HP:0000685 ! Hypoplasia of teeth is_a: HP:0006481 ! Abnormality of primary teeth [Term] id: HP:0006335 name: Persistence of primary teeth alt_id: HP:0003772 alt_id: HP:0006299 alt_id: HP:0006305 alt_id: HP:0006341 alt_id: HP:0006354 def: "Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth." [HPO:ibailleulforestier] comment: The primary teeth are usually shed and replaced by the permanent teeth, usually by the age of six years. Persistence of primary teeth may be related to agenesis of the permanent teeth. Molar primary teeth may be persistent because of the agenesis of the premolars. synonym: "Deciduous teeth retention" EXACT [] synonym: "Delayed loss of baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Delayed loss of deciduous teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Delayed loss of primary teeth" EXACT [] synonym: "Failure to exfoliate deciduous teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure to exfoliate primary teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure to lose baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Persistence of deciduous teeth" EXACT [] synonym: "Persistent deciduous dentition" EXACT [ORCID:0000-0001-5889-4463] synonym: "Persistent primary dentition" EXACT [] synonym: "Persistent primary teeth" EXACT [] synonym: "Retained baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Retained deciduous teeth" EXACT [] synonym: "Retained primary teeth" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:57650002 xref: UMLS:C0266050 is_a: HP:0006292 ! Abnormality of dental eruption is_a: HP:0006481 ! Abnormality of primary teeth [Term] id: HP:0006336 name: Short dental roots def: "Short dental root." [HPO:probinson] synonym: "Decreased length of dental roots" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased length of tooth roots" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Short dental roots" EXACT layperson [] synonym: "Short tooth roots" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Underdeveloped dental roots" EXACT layperson [] synonym: "Underdeveloped tooth roots" BROAD layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C2678330 is_a: HP:0040220 ! Abnormal size the dental root [Term] id: HP:0006337 name: Premature eruption of permanent teeth def: "Premature tooth eruption of the permanent dentition." [HPO:ibailleulforestier] subset: hposlim_core synonym: "Advanced tooth eruption" EXACT [] synonym: "Early eruption of adult teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Early eruption of permanent teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Precocious eruption of secondary dentition" EXACT [] synonym: "Precocious eruption of secondary teeth" EXACT [] synonym: "Premature eruption of adult teeth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021601 is_a: HP:0006288 ! Advanced eruption of teeth [Term] id: HP:0006338 name: Malformation of mandibular premolar def: "An abnormality of themorphology of secondary premolar tooth." [HPO:ibailleulforestier] synonym: "Malformation of lower premolar" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of mandibular bicuspid" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025061 is_a: HP:0011080 ! Abnormality of premolar morphology [Term] id: HP:0006339 name: Conical mandibular incisor def: "An abnormal conical morphology of the primary or permanent mandibular incisors." [HPO:ibailleulforestier] synonym: "Cone shaped lower front tooth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Conoid mandibular incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Lower front shark tooth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Peg shaped lower front tooth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Peg shaped mandibular incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Pointed mandibular incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Pointed mandibular incisors" RELATED [] xref: UMLS:C4020818 xref: UMLS:C4280449 xref: UMLS:C4280450 is_a: HP:0011065 ! Conical incisor [Term] id: HP:0006342 name: Peg-shaped maxillary lateral incisors def: "Peg-shaped upper lateral secondary incisor tooth." [HPO:ibailleulforestier] synonym: "Cone shaped upper lateral incisors" RELATED [ORCID:0000-0001-5889-4463] synonym: "Conical maxillary lateral incisors" RELATED [ORCID:0000-0001-5889-4463] synonym: "Conoid upper lateral incisors" RELATED [ORCID:0000-0001-5889-4463] synonym: "Peg laterals" BROAD [ORCID:0000-0001-5889-4463] synonym: "Peg shaped upper lateral incisors" EXACT [ORCID:0000-0001-5889-4463] synonym: "Pointed upper lateral incisors" RELATED [ORCID:0000-0001-5889-4463] xref: UMLS:C4025060 is_a: HP:0011065 ! Conical incisor [Term] id: HP:0006344 name: Abnormality of primary molar morphology def: "An abnormality of morphology of primary molar." [HPO:ibailleulforestier] synonym: "Abnormality of deciduous molar morphology" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of shape of baby molar" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of shape of primary molar" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4025059 is_a: HP:0006481 ! Abnormality of primary teeth is_a: HP:0011070 ! Abnormality of molar morphology [Term] id: HP:0006346 name: Screwdriver-shaped incisors def: "An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape." [HPO:ibailleulforestier] synonym: "Screwdriver shaped front teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Screwdriver-shaped incisors" EXACT layperson [] xref: UMLS:C4025058 is_a: HP:0011063 ! Abnormality of incisor morphology [Term] id: HP:0006347 name: Microdontia of primary teeth def: "Decreased size of the primary teeth." [HPO:ibailleulforestier] synonym: "Decreased size of primary tooth" BROAD [ORCID:0000-0001-5889-4463] synonym: "Decreased width of baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased width of deciduous teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased width of milk teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased width of primary tooth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Microdontia of deciduous teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Small deciduous teeth" EXACT [] xref: UMLS:C1855694 xref: UMLS:C1856203 is_a: HP:0000691 ! Microdontia is_a: HP:0006481 ! Abnormality of primary teeth [Term] id: HP:0006349 name: Agenesis of permanent teeth alt_id: HP:0000681 alt_id: HP:0006287 def: "A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth." [HPO:probinson] synonym: "Absence of permanent teeth" EXACT [] synonym: "Absent permanent teeth" EXACT [] synonym: "Agenesis of permanent dentition" EXACT [ORCID:0000-0001-5889-4463] synonym: "Agenesis of secondary dentition" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of permanent teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Failure of development of secondary teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing teeth" EXACT layperson [] xref: MSH:C563203 xref: SNOMEDCT_US:109444001 xref: SNOMEDCT_US:234948008 xref: UMLS:C0457756 xref: UMLS:C1290511 is_a: HP:0009804 ! Reduced number of teeth is_a: HP:0011044 ! Abnormal number of permanent teeth [Term] id: HP:0006350 name: Obliteration of the pulp chamber def: "Obliteration of the pulp chambers owing to mineralization of the dental pulp." [pmid:162890] synonym: "Crescent/chevron-shaped pulp chambers" RELATED [] synonym: "Narrowing of pulp chamber of tooth" NARROW [ORCID:0000-0001-5889-4463] synonym: "Pulp canal obliteration" EXACT [ORCID:0000-0001-5889-4463] synonym: "Reduced size of pulp chamber of tooth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Small pulp chamber of tooth" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4020817 xref: UMLS:C4025057 xref: UMLS:C4280448 is_a: HP:0006479 ! Abnormality of the dental pulp [Term] id: HP:0006352 name: Failure of eruption of permanent teeth alt_id: HP:0006309 def: "Lack of tooth eruption of the secondary dentition." [HPO:ibailleulforestier] synonym: "Failure of eruption of adult teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Unerupted adult dentition" BROAD [ORCID:0000-0001-5889-4463] synonym: "Unerupted adult teeth" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Unerupted permanent dentition" BROAD [ORCID:0000-0001-5889-4463] synonym: "Unerupted permanent teeth" BROAD layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025056 xref: UMLS:C4280447 is_a: HP:0000706 ! Unerupted tooth [Term] id: HP:0006353 name: Hypoplasia of the tooth germ def: "Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth." [HPO:ibailleulforestier] synonym: "Decreased size of tooth bud" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased size of tooth germ" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypoplastic tooth buds" RELATED [] synonym: "Hypotrophic tooth germ" EXACT [ORCID:0000-0001-5889-4463] synonym: "Small tooth bud" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Small tooth germ" EXACT [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of tooth bud" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of tooth germ" BROAD [ORCID:0000-0001-5889-4463] xref: UMLS:C4025055 is_a: HP:0000685 ! Hypoplasia of teeth [Term] id: HP:0006355 name: Agenesis of mandibular central incisor def: "Agenesis of lower secondary incisor or lower primary incisor." [HPO:ibailleulforestier] synonym: "Absence of lower central incisor" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Absence of mandibular central incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Failure of development of mandibular central incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing lower central incisor" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Missing mandibular central incisor" RELATED [ORCID:0000-0001-5889-4463] xref: UMLS:C1840225 xref: UMLS:C4025054 is_a: HP:0006289 ! Agenesis of central incisor is_a: HP:0200161 ! Agenesis of mandibular incisor [Term] id: HP:0006357 name: Premature loss of permanent teeth def: "Premature loss of the permanent teeth." [HPO:ibailleulforestier] synonym: "Early loss of adult teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Early loss of permanent teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Early loss of secondary dentition" EXACT [ORCID:0000-0001-5889-4463] synonym: "Premature loss of adult teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Premature loss of secondary teeth" EXACT [] xref: UMLS:C1969738 is_a: HP:0006480 ! Premature loss of teeth [Term] id: HP:0006358 name: Shovel-shaped maxillary central incisors def: "Incisors with a thick marginal ridge surrounding a deep lingual fossa are termed shovel-shaped incisors." [pmid:2212205] synonym: "Shovel-shaped upper front teeth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1833168 is_a: HP:0011063 ! Abnormality of incisor morphology [Term] id: HP:0006361 name: Irregular femoral epiphysis synonym: "Irregular thighbone end part" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1850658 is_a: HP:0006499 ! Abnormality of femoral epiphysis is_a: HP:0010582 ! Irregular epiphyses [Term] id: HP:0006362 name: Varus deformity of humeral neck xref: UMLS:C1854948 is_a: HP:0003887 ! Abnormality of the humeral heads [Term] id: HP:0006366 name: Adductor longus contractures xref: UMLS:C1859524 is_a: HP:0005750 ! Contractures of the joints of the lower limbs [Term] id: HP:0006367 name: Crumpled long bones def: "An crumpled radiographic appearance of the long bones, as is the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta." [HPO:probinson] synonym: "Crumpled long bones" EXACT layperson [] xref: UMLS:C1970497 is_a: HP:0011314 ! Abnormality of long bone morphology [Term] id: HP:0006368 name: Forearm reduction defects xref: UMLS:C1849327 is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0006369 name: Irregular patellae alt_id: HP:0006458 def: "An alteration of the normally relatively smooth margins of the kneecap in radiographic images leading to an irregular contour." [HPO:probinson] synonym: "Irregular patellar contour" EXACT [] synonym: "Irregular patellar margins" EXACT [] xref: UMLS:C1836870 is_a: HP:0003045 ! Abnormal patella morphology [Term] id: HP:0006370 name: Distal ulnar epiphyseal stippling def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna." [HPO:probinson] synonym: "Distal ulnar epiphyseal calcifications" EXACT [] xref: UMLS:C4021600 is_a: HP:0010600 ! Abnormality of the distal ulnar epiphysis is_a: HP:0010655 ! Epiphyseal stippling is_a: HP:0040073 ! Abnormal forearm bone morphology [Term] id: HP:0006371 name: Broad long bone diaphyses def: "Increased width of the diaphysis of long bones." [HPO:probinson] synonym: "Broad shaft of long bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide shaft of long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025053 is_a: HP:0006504 ! Anomaly of the limb diaphyses [Term] id: HP:0006375 name: Dumbbell-shaped femur def: "The femur is shortened and displays flaring (widening) of the metaphyses." [HPO:probinson] synonym: "Dumbbell-shaped thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025052 is_a: HP:0000947 ! Dumbbell-shaped long bone is_a: HP:0002823 ! Abnormality of femur morphology [Term] id: HP:0006376 name: Limited elbow flexion xref: UMLS:C1856922 is_a: HP:0002996 ! Limited elbow movement [Term] id: HP:0006378 name: Osteolysis of patellae xref: UMLS:C4025051 is_a: HP:0003045 ! Abnormal patella morphology is_a: HP:0009139 ! Osteolysis involving bones of the lower limbs [Term] id: HP:0006379 name: Proximal tibial hypoplasia comment: Removed logical definition that used anonymous class. Requested new term from UBERON: 'proximal tibia' synonym: "Proximal tibial hypopolasia" EXACT [] xref: UMLS:C1856029 is_a: HP:0005736 ! Short tibia [Term] id: HP:0006380 name: Knee flexion contracture alt_id: HP:0002978 def: "A bent (flexed) knee joint that cannot be straightened actively or passively." [HPO:probinson] subset: hposlim_core synonym: "Contractures of knees" EXACT [] synonym: "Contractures of the knees" EXACT [] synonym: "Flexion contracture of knees" EXACT [] synonym: "Flexion contractures at both knees" EXACT [HPO:skoehler] synonym: "Flexion contractures of knees" EXACT [] synonym: "Flexion deformity of the knee" EXACT [] synonym: "Inability to straighten knee" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Knee contracture" EXACT [] synonym: "Knee contractures" EXACT [] synonym: "Knee flexion contractures" EXACT [] synonym: "Knee flexion deformity" EXACT [] xref: SNOMEDCT_US:202289003 xref: UMLS:C0409355 is_a: HP:0002815 ! Abnormality of the knee is_a: HP:0005750 ! Contractures of the joints of the lower limbs [Term] id: HP:0006381 name: Rudimentary fibula alt_id: HP:0004986 def: "Absent or nearly absent fibula. (Does not include aplastic)" [] synonym: "Rudimentary to absent fibulae" EXACT [] synonym: "Small to absent calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Small to absent fibula" EXACT [] xref: UMLS:C1844706 is_a: HP:0003038 ! Fibular hypoplasia [Term] id: HP:0006383 name: Progressive bowing of long bones def: "Progressive bending or abnormal curvature of a long bone." [HPO:probinson] xref: UMLS:C1857137 is_a: HP:0006487 ! Bowing of the long bones [Term] id: HP:0006384 name: Club-shaped distal femur alt_id: HP:0006447 def: "An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis." [HPO:probinson] comment: previous def: 'has part' some \n(clavate and ('inheres in' some 'Distal end of femur (adult human)') and ('has modifier' some abnormal)) synonym: "Club-shaped distal femora" EXACT [] synonym: "Club-shaped outermost end of thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1857505 is_a: HP:0002823 ! Abnormality of femur morphology [Term] id: HP:0006385 name: Short lower limbs alt_id: HP:0003054 def: "Shortening of the legs related to developmental hypoplasia of the bones of the leg." [HPO:probinson] subset: hposlim_core synonym: "Short legs" EXACT layperson [] synonym: "Short lower limbs" EXACT layperson [] xref: SNOMEDCT_US:249786007 xref: UMLS:C0426901 is_a: HP:0009816 ! Lower limb undergrowth [Term] id: HP:0006386 name: Hypoplastic distal radial epiphyses def: "Underdevelopment of the distal epiphysis of the radius." [HPO:curators] xref: UMLS:C1969286 is_a: HP:0010597 ! Abnormality of the distal radial epiphysis [Term] id: HP:0006387 name: Wide distal femoral metaphysis def: "Increased width of the distal part of the shaft (metaphysis) of the femur." [HPO:probinson] synonym: "Broad outermost wide portion of thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide distal metaphysis of femur" EXACT [] xref: UMLS:C1849309 is_a: HP:0030299 ! Distal femoral metaphyseal abnormality [Term] id: HP:0006389 name: Limited knee flexion xref: UMLS:C1839512 is_a: HP:0002815 ! Abnormality of the knee [Term] id: HP:0006390 name: Anterior tibial bowing def: "An abnormal anterior bending or curvature of the tibia." [HPO:probinson] synonym: "Anterior bowing of tibia" EXACT [] xref: UMLS:C1861937 is_a: HP:0002982 ! Tibial bowing [Term] id: HP:0006391 name: Overtubulated long bones def: "Overconstriction, or narrowness of the diaphysis and metaphysis of long bones." [HPO:probinson] xref: UMLS:C1848769 is_a: HP:0011314 ! Abnormality of long bone morphology [Term] id: HP:0006392 name: Increased density of long bones def: "An abnormal increase in the bone density of the long bones." [HPO:curators] synonym: "Increased density of long bones" EXACT layperson [] xref: UMLS:C1849307 is_a: HP:0011001 ! Increased bone mineral density is_a: HP:0011314 ! Abnormality of long bone morphology [Term] id: HP:0006394 name: Limited pronation/supination of forearm def: "A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation)." [HPO:probinson] subset: hposlim_core synonym: "Limited pronation/supination of forearm" EXACT layperson [] xref: UMLS:C1861331 is_a: HP:0002996 ! Limited elbow movement [Term] id: HP:0006397 name: Lateral displacement of patellae xref: UMLS:C1860156 is_a: HP:0003045 ! Abnormal patella morphology [Term] id: HP:0006398 name: Flat distal femoral epiphysis def: "An abnormal flattening of the distal epiphysis of femur." [HPO:sdoelken] synonym: "Flat end part of outermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Flattened distal femoral epiphyses" EXACT [] xref: UMLS:C4021599 is_a: HP:0010590 ! Abnormality of the distal femoral epiphysis is_a: HP:0030289 ! Flattened femoral epiphysis [Term] id: HP:0006400 name: Absent knee epiphyses synonym: "Absent knee end part" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1859462 is_a: HP:0002815 ! Abnormality of the knee is_a: HP:0010577 ! Absent epiphyses [Term] id: HP:0006402 name: Distal shortening of limbs synonym: "Short outer part of limbs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1840307 is_a: HP:0009826 ! Limb undergrowth [Term] id: HP:0006406 name: Club-shaped proximal femur def: "An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis." [HPO:probinson] comment: previous def: 'has part' some \n(clavate and ('inheres in' some 'Proximal end of femur (adult human)') and ('has modifier' some abnormal)) synonym: "Club-shaped innermost end of thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1968611 is_a: HP:0002823 ! Abnormality of femur morphology [Term] id: HP:0006407 name: Irregular distal femoral epiphysis def: "Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular." [HPO:probinson] synonym: "Irregular outermost thighbone end part" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025050 is_a: HP:0006361 ! Irregular femoral epiphysis is_a: HP:0010590 ! Abnormality of the distal femoral epiphysis [Term] id: HP:0006408 name: Distal tapering femur synonym: "Tapering of outermost end of thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025049 is_a: HP:0002823 ! Abnormality of femur morphology [Term] id: HP:0006409 name: Progressive leg bowing def: "Progressive bending or abnormal curvature of the leg." [HPO:probinson] xref: UMLS:C1855191 is_a: HP:0006383 ! Progressive bowing of long bones [Term] id: HP:0006413 name: Broad tibial metaphyses synonym: "Broad wide portion of shankbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Broad wide portion of shinbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C2678328 is_a: HP:0006491 ! Abnormality of the tibial metaphysis [Term] id: HP:0006414 name: Distal tibial bowing def: "A bending or abnormal curvature of the distal portion of the tibia." [HPO:probinson] synonym: "Bowing of the distal tibia" EXACT [] synonym: "Tibial bowing at ankle" EXACT [] xref: UMLS:C4021598 is_a: HP:0002982 ! Tibial bowing is_a: HP:0003028 ! Abnormality of the ankles [Term] id: HP:0006415 name: Cortically dense long tubular bones def: "Increased density of the compact bone of long bone." [HPO:probinson] comment: Note that compact bone and cortical bone are synonymous. xref: UMLS:C1849276 is_a: HP:0000935 ! Thickened cortex of long bones [Term] id: HP:0006417 name: Broad femoral metaphyses synonym: "Broad wide portion of thigh bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1864854 is_a: HP:0006489 ! Abnormality of the femoral metaphysis [Term] id: HP:0006420 name: Asymmetric radial dysplasia def: "The presence of asymmetric developmental dysplasia of the radius." [HPO:probinson] xref: UMLS:C1969396 is_a: HP:0006433 ! Dysplastic radii [Term] id: HP:0006423 name: Peg-like central prominence of distal tibial metaphyses xref: UMLS:C1846160 is_a: HP:0006491 ! Abnormality of the tibial metaphysis [Term] id: HP:0006424 name: Elongated radius def: "Increased length of the radius." [HPO:probinson] xref: UMLS:C4025048 is_a: HP:0045009 ! Abnormal morphology of the radius [Term] id: HP:0006426 name: Rudimentary to absent tibiae xref: UMLS:C1968943 is_a: HP:0005772 ! Aplasia/Hypoplasia of the tibia [Term] id: HP:0006429 name: Broad femoral neck alt_id: HP:0003369 alt_id: HP:0003372 alt_id: HP:0008781 alt_id: HP:0008782 alt_id: HP:0008836 def: "An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [HPO:probinson] synonym: "Broadening of femoral neck" EXACT [] synonym: "Wide femoral neck" EXACT [] synonym: "Wide neck of thigh bone" EXACT [ORCID:0000-0001-5208-3432] synonym: "Widened femoral necks" EXACT [] xref: UMLS:C1849016 is_a: HP:0003367 ! Abnormality of the femoral neck [Term] id: HP:0006431 name: Proximal femoral metaphyseal abnormality def: "An anomaly of the metaphysis of the proximal femur (close to the hip)." [HPO:probinson] synonym: "Abnormal wide portion of innermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025047 is_a: HP:0006489 ! Abnormality of the femoral metaphysis [Term] id: HP:0006432 name: Trapezoidal distal femoral condyles xref: UMLS:C1843983 is_a: HP:0002823 ! Abnormality of femur morphology [Term] id: HP:0006433 name: Dysplastic radii synonym: "Radial longitudinal deficiency" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4025046 is_a: HP:0003330 ! Abnormal bone structure is_a: HP:0045009 ! Abnormal morphology of the radius [Term] id: HP:0006434 name: Hypoplasia of proximal radius alt_id: HP:0006365 def: "Proximal radial shortening owing to a congenital defect of development." [HPO:probinson] synonym: "Proximal radial shortening" EXACT [] xref: UMLS:C1859477 is_a: HP:0002984 ! Hypoplasia of the radius [Term] id: HP:0006436 name: Shortening of the tibia alt_id: HP:0006445 synonym: "Marked shortening of tibia" EXACT [] synonym: "Shortening of the shankbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Shortening of the shinbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1855277 is_a: HP:0005736 ! Short tibia [Term] id: HP:0006437 name: Disproportionate prominence of the femoral medial condyle xref: UMLS:C1834392 is_a: HP:0002823 ! Abnormality of femur morphology [Term] id: HP:0006438 name: Enlargement of the distal femoral epiphysis def: "An abnormal enlargement of the distal epiphysis of the femur." [HPO:probinson] synonym: "Enlargement of the outermost thighbone end part" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Large distal femoral epiphyses" EXACT [] xref: UMLS:C1843105 is_a: HP:0010590 ! Abnormality of the distal femoral epiphysis [Term] id: HP:0006439 name: Radioulnar dislocation alt_id: HP:0003972 synonym: "Dislocated radioulnar joints" EXACT [] xref: UMLS:C2673394 is_a: HP:0003059 ! Abnormality of the radioulnar joints [Term] id: HP:0006440 name: Increased density of long bone diaphyses synonym: "Increased density of shaft of long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1844516 is_a: HP:0006392 ! Increased density of long bones is_a: HP:0006504 ! Anomaly of the limb diaphyses [Term] id: HP:0006441 name: Lateral humeral condyle aplasia xref: UMLS:C1833878 is_a: HP:0031095 ! Abnormal humerus morphology [Term] id: HP:0006442 name: Hypoplasia of proximal fibula synonym: "Small innermost upper end of calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Underdeveloped innermost upper end of calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1859478 is_a: HP:0003038 ! Fibular hypoplasia [Term] id: HP:0006443 name: Patellar aplasia alt_id: HP:0003046 alt_id: HP:0006475 def: "Absence of the patella." [HPO:probinson] subset: hposlim_core synonym: "Absent kneecap" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Absent patella" EXACT [] synonym: "Absent patellae" EXACT [] synonym: "Absent patellas" EXACT [] synonym: "Aplastic patellae" EXACT [] xref: UMLS:C1868578 is_a: HP:0006498 ! Aplasia/Hypoplasia of the patella [Term] id: HP:0006446 name: Dysplastic patella xref: UMLS:C1849580 is_a: HP:0003045 ! Abnormal patella morphology is_a: HP:0003330 ! Abnormal bone structure [Term] id: HP:0006449 name: Distal radial epiphyseal osteolysis xref: UMLS:C1850145 is_a: HP:0010597 ! Abnormality of the distal radial epiphysis [Term] id: HP:0006450 name: Multicentric ossification of proximal femoral epiphyses xref: UMLS:C1857193 is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head [Term] id: HP:0006453 name: Lateral displacement of the femoral head def: "A developmental anomaly with lateral displacement of the femoral head." [HPO:probinson] synonym: "Laterally displaced femoral heads" EXACT [] xref: UMLS:C1855758 is_a: HP:0003368 ! Abnormality of the femoral head [Term] id: HP:0006454 name: Delayed patellar ossification def: "Formation of bone in the patella later than normal." [HPO:probinson, pmid:6729496] comment: The patella initially ossifies at between three and five years, commencing as multiple foci that rapidly coalesce. As the patellar ossification center enlarges the expanding margins may be irregular and associated with accessory ossification centers. These are most common superolaterally and may lead to the development of a bipartite patella. The bipartite patella has cartilaginous continuity despite the appearance of osseous discontinuity. The patella expands to all cartilaginous contours during late adolescence when the epiphyseal ossification centers around the knee are also in the final stages of maturation. The only cartilage not replaced is that occupying the superior two-thirds of the articular surface (the lower one-third is covered by the fat pad). The subchondral plate does not assume the actual articular contours until the late stages of osseous maturation (after ten to twelve years). Accordingly, typical measurements such as medial and lateral angulation cannot be accurately done prior to the final stages of patellar ossification expansion and maturation (pmid:6729496). synonym: "Delayed bone maturation of the knee cap" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Delayed patellae ossification" EXACT [] xref: UMLS:C4021597 xref: UMLS:C4280446 is_a: HP:0003045 ! Abnormal patella morphology is_a: HP:0003336 ! Abnormal enchondral ossification [Term] id: HP:0006456 name: Irregular proximal tibial epiphyses def: "Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular." [HPO:probinson] synonym: "Irregular innermost shankbone end part" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Irregular innermost shinbone end part" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025045 is_a: HP:0010582 ! Irregular epiphyses is_a: HP:0010591 ! Abnormality of the proximal tibial epiphysis [Term] id: HP:0006459 name: Dorsal subluxation of ulna def: "Partial dislocation of the ulna in the dorsal direction." [HPO:curators] xref: UMLS:C1851988 is_a: HP:0002997 ! Abnormality of the ulna [Term] id: HP:0006460 name: Increased laxity of ankles xref: UMLS:C1850854 is_a: HP:0003028 ! Abnormality of the ankles [Term] id: HP:0006461 name: Proximal femoral epiphysiolysis alt_id: HP:0003000 def: "Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt." [HPO:probinson] synonym: "Slipped capilal femoral epiphysis" EXACT [] synonym: "Slipped capital femoral epiphyses" EXACT [] synonym: "Slipped end part of innermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D060048 xref: UMLS:C0149887 is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head [Term] id: HP:0006462 name: Generalized bone demineralization def: "A generalized decrease in bone mineral density." [HPO:curators] comment: The terms Osteopenia or Osteoporosis should be prefered to this term, which may be obsoleted in the future. xref: UMLS:C1833326 is_a: HP:0004349 ! Reduced bone mineral density [Term] id: HP:0006463 name: Rickets of the lower limbs xref: UMLS:C1833323 is_a: HP:0002748 ! Rickets is_a: HP:0002814 ! Abnormality of the lower limb [Term] id: HP:0006465 name: Periosteal thickening of long tubular bones def: "Thickening of the periosteum of long bone." [HPO:probinson] xref: UMLS:C1834345 is_a: HP:0011314 ! Abnormality of long bone morphology is_a: HP:0030313 ! Abnormal periosteum morphology [Term] id: HP:0006466 name: Ankle flexion contracture alt_id: HP:0004985 alt_id: HP:0006403 def: "A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle." [HPO:probinson] synonym: "Ankle contracture" EXACT [] synonym: "Ankle contractures" EXACT [] synonym: "Contractures of the ankles" EXACT [] xref: UMLS:C1837407 is_a: HP:0003028 ! Abnormality of the ankles is_a: HP:0005750 ! Contractures of the joints of the lower limbs [Term] id: HP:0006467 name: Limited shoulder movement def: "A limitation of the range of movement of the shoulder joint." [HPO:probinson] subset: hposlim_core synonym: "Limited shoulder movement" EXACT layperson [] xref: UMLS:C1851313 is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0003043 ! Abnormality of the shoulder [Term] id: HP:0006470 name: Thin long bone diaphyses def: "Decreased width of the diaphysis of long bones." [HPO:probinson] synonym: "Thin diaphyses of long bones" EXACT [] synonym: "Thin shaft of long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1859449 is_a: HP:0006504 ! Anomaly of the limb diaphyses [Term] id: HP:0006471 name: Fixed elbow flexion xref: UMLS:C4025044 is_a: HP:0006376 ! Limited elbow flexion [Term] id: HP:0006473 name: Anterior bowing of long bones def: "An abnormal anterior curvature of a long bone." [HPO:probinson] xref: UMLS:C1850644 is_a: HP:0006487 ! Bowing of the long bones [Term] id: HP:0006476 name: Abnormality of the pancreatic islet cells alt_id: HP:0100567 def: "An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin." [HPO:probinson] xref: UMLS:C4025043 is_a: HP:0012093 ! Abnormality of endocrine pancreas physiology created_by: peter creation_date: 2008-03-28T04:41:00Z [Term] id: HP:0006477 name: Abnormality of the alveolar ridges def: "Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth." [HPO:probinson] synonym: "Abnormality of alveolar margin" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of alveolar processes of jaw" RELATED [ORCID:0000-0001-5889-4463] synonym: "Abnormality of dentoalveolar ridges" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of gum ridge" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Defect in alveolar ridge" EXACT [] xref: SNOMEDCT_US:235013007 xref: UMLS:C0341007 xref: UMLS:C4280445 is_a: HP:0000163 ! Abnormal oral cavity morphology created_by: peter creation_date: 2008-03-28T04:44:00Z [Term] id: HP:0006479 name: Abnormality of the dental pulp def: "An abnormality of the dental pulp." [HPO:ibailleulforestier] synonym: "Abnormality of tooth pulp" EXACT [ORCID:0000-0001-5889-4463] synonym: "Endodontic abnormality" RELATED [ORCID:0000-0001-5889-4463] xref: UMLS:C4025042 is_a: HP:0011061 ! Abnormality of dental structure created_by: peter creation_date: 2008-03-28T04:46:00Z [Term] id: HP:0006480 name: Premature loss of teeth alt_id: HP:0000701 alt_id: HP:0001564 alt_id: HP:0006343 def: "Premature loss of teeth not related to trauma or neglect." [HPO:ibailleulforestier] subset: hposlim_core synonym: "Early tooth loss" EXACT layperson [] synonym: "Loss of teeth" EXACT layperson [] synonym: "Premature exfoliation of teeth" NARROW [ORCID:0000-0001-5889-4463] synonym: "Premature teeth loss" EXACT layperson [] synonym: "Premature tooth loss" EXACT layperson [] xref: SNOMEDCT_US:234974002 xref: SNOMEDCT_US:42756003 xref: UMLS:C0232513 xref: UMLS:C0399385 is_a: HP:0000164 ! Abnormality of the dentition created_by: peter creation_date: 2008-03-28T05:03:00Z [Term] id: HP:0006481 name: Abnormality of primary teeth def: "Any abnormality of the primary tooth." [HPO:ibailleulforestier] comment: Primary teeth are also called temporary teeth or deciduous teeth. synonym: "Abnormality of baby teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of deciduous teeth" EXACT [] synonym: "Abnormality of milk teeth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021596 is_a: HP:0000164 ! Abnormality of the dentition created_by: peter creation_date: 2008-03-28T05:40:00Z [Term] id: HP:0006482 name: Abnormality of dental morphology alt_id: HP:0000697 def: "An abnormality of the morphology of the tooth." [HPO:ibailleulforestier] subset: hposlim_core synonym: "Abnormality of dental shape" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of shape of tooth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormally shaped teeth" EXACT layperson [] synonym: "Deformity of teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Dental deformity" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Dental malformations" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Malformed teeth" EXACT layperson [] synonym: "Misshapen teeth" EXACT layperson [] synonym: "Misshapened teeth" EXACT layperson [] xref: MSH:D014071 xref: SNOMEDCT_US:422775003 xref: UMLS:C0040427 xref: UMLS:C0262444 is_a: HP:0000164 ! Abnormality of the dentition created_by: peter creation_date: 2008-03-28T05:41:00Z [Term] id: HP:0006483 name: Abnormal number of teeth def: "The presence of an altered number of of teeth." [HPO:ibailleulforestier] comment: Humans usually have 20 primary teeth (also called deciduous teeth) and 32 permanent teeth. This term comprises anomalies with too many or too few teeth. synonym: "Abnormal complement of teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormal number of teeth" EXACT layperson [] synonym: "Abnormal tooth count" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:335443002 xref: UMLS:C1290508 is_a: HP:0000164 ! Abnormality of the dentition created_by: peter creation_date: 2008-03-28T05:44:00Z [Term] id: HP:0006485 name: Agenesis of incisor def: "Agenesis of incisor." [HPO:probinson] comment: Failure of one or more incisors to develop. synonym: "Absence of front tooth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Absence of incisors" RELATED layperson [] synonym: "Failure of development of incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing front tooth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Missing incisors" RELATED layperson [] xref: UMLS:C4020815 xref: UMLS:C4020816 xref: UMLS:C4083290 is_a: HP:0001592 ! Selective tooth agenesis is_a: HP:0011064 ! Abnormal number of incisors created_by: peter creation_date: 2008-03-28T05:49:00Z [Term] id: HP:0006486 name: Abnormality of the dental root def: "An abnormality of the dental root." [HPO:ibailleulforestier] synonym: "Abnormality of the dental root" EXACT layperson [] synonym: "Abnormality of tooth root" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4025041 is_a: HP:0006482 ! Abnormality of dental morphology created_by: peter creation_date: 2008-03-28T05:52:00Z [Term] id: HP:0006487 name: Bowing of the long bones alt_id: HP:0002976 alt_id: HP:0005087 alt_id: HP:0005908 alt_id: HP:0006404 alt_id: HP:0006451 alt_id: HP:0006452 def: "A bending or abnormal curvature of a long bone." [HPO:probinson] comment: Curvatures of a long bone such as femur, tibia, or fibula. synonym: "Bowed long bones" EXACT layperson [] synonym: "Bowing of long bones" EXACT layperson [] synonym: "Bowing of the long bones" EXACT layperson [] synonym: "Camptomelia" EXACT [] synonym: "Diaphyseal bowing" EXACT [] synonym: "Diaphyseal bowing of long bones" EXACT [] xref: UMLS:C1855340 is_a: HP:0006504 ! Anomaly of the limb diaphyses created_by: peter creation_date: 2008-03-28T05:56:00Z [Term] id: HP:0006488 name: Bowing of the arm def: "A bending or abnormal curvature affecting a long bone of the arm." [HPO:probinson] synonym: "Bending of the arm" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bowing of the arm" EXACT layperson [] xref: UMLS:C0426863 is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0006487 ! Bowing of the long bones created_by: peter creation_date: 2008-03-28T05:57:00Z [Term] id: HP:0006489 name: Abnormality of the femoral metaphysis def: "An anomaly of the femoral metaphysis." [HPO:probinson] synonym: "Abnormality of the wide portion of the femoral bone" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025040 xref: UMLS:C4280444 is_a: HP:0002823 ! Abnormality of femur morphology is_a: HP:0006490 ! Abnormality of lower-limb metaphyses created_by: peter creation_date: 2008-03-28T06:02:00Z [Term] id: HP:0006490 name: Abnormality of lower-limb metaphyses synonym: "Abnormality of the wide portion of the lower-limb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025039 is_a: HP:0000944 ! Abnormality of the metaphysis is_a: HP:0002814 ! Abnormality of the lower limb created_by: peter creation_date: 2008-03-28T06:02:00Z [Term] id: HP:0006491 name: Abnormality of the tibial metaphysis synonym: "Abnormality of the wide portion of shankbone" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the wide portion of shinbone" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025038 is_a: HP:0002992 ! Abnormality of tibia morphology is_a: HP:0006490 ! Abnormality of lower-limb metaphyses created_by: peter creation_date: 2008-03-28T06:03:00Z [Term] id: HP:0006492 name: Aplasia/Hypoplasia of the fibula alt_id: HP:0005672 alt_id: HP:0006421 def: "Absence or underdevelopment of the fibula." [HPO:curators] synonym: "Absent/small calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fibular aplasia/hypoplasia" EXACT [] synonym: "Hypoplastic/aplastic fibulae" EXACT [] xref: UMLS:C1856732 is_a: HP:0002991 ! Abnormality of fibula morphology is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs created_by: peter creation_date: 2008-03-28T06:03:00Z [Term] id: HP:0006493 name: Aplasia/hypoplasia involving bones of the lower limbs def: "Absence (due to failure to form) or underdevelopment of the bones of the lower limbs." [HPO:probinson] synonym: "Absent/small lower limb bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped lower limb bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025037 is_a: HP:0040069 ! Abnormal lower limb bone morphology is_a: HP:0045060 ! Aplasia/hypoplasia involving bones of the extremities created_by: peter creation_date: 2008-03-28T06:04:00Z [Term] id: HP:0006494 name: Aplasia/Hypoplasia involving bones of the feet synonym: "Absent/small foot bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped foot bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025036 is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs created_by: peter creation_date: 2008-03-28T06:08:00Z [Term] id: HP:0006495 name: Aplasia/Hypoplasia of the ulna alt_id: HP:0005097 alt_id: HP:0006372 alt_id: HP:0006410 def: "Absence or underdevelopment of the ulna." [HPO:curators] synonym: "Absence/underdevelopment of inner forearm bone" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Absent-hypoplastic ulnae" EXACT [] synonym: "Absent/small ulna" EXACT [ORCID:0000-0001-5208-3432] synonym: "Hypoplasia or unilateral/bilateral absence of ulna" EXACT [] synonym: "ulnar hypoplasia/aplasia" EXACT [] xref: UMLS:C1865571 is_a: HP:0002997 ! Abnormality of the ulna is_a: HP:0006503 ! Aplasia/hypoplasia involving forearm bones created_by: peter creation_date: 2008-03-28T06:15:00Z [Term] id: HP:0006496 name: Aplasia/hypoplasia involving bones of the upper limbs def: "Absence (due to failure to form) or underdevelopment of the bones of the upper limbs." [HPO:probinson] synonym: "Absent/small bones of the upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped bones of the upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025035 is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0045060 ! Aplasia/hypoplasia involving bones of the extremities created_by: peter creation_date: 2008-03-28T06:16:00Z [Term] id: HP:0006498 name: Aplasia/Hypoplasia of the patella alt_id: HP:0005006 alt_id: HP:0005027 alt_id: HP:0005702 alt_id: HP:0005729 alt_id: HP:0006374 def: "Absence or underdevelopment of the patella." [HPO:curators] synonym: "Absent or hypoplastic patellae" EXACT [] synonym: "Absent/hypoplastic patella" EXACT [] synonym: "Absent/small kneecap" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped kneecap" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplastic or hypoplastic patellae" EXACT [] synonym: "Hypoplastic or absent patella" EXACT [] synonym: "Patellar aplasia/hypoplasia" EXACT [] synonym: "Small to absent patellae" EXACT [] xref: MSH:C535568 xref: UMLS:C1868577 is_a: HP:0003045 ! Abnormal patella morphology is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs created_by: peter creation_date: 2008-03-28T06:25:00Z [Term] id: HP:0006499 name: Abnormality of femoral epiphysis alt_id: HP:0006412 alt_id: HP:0008811 def: "An anomaly of a growth plate of a femur." [HPO:probinson] synonym: "Abnormality of thighbone end part" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025034 is_a: HP:0002823 ! Abnormality of femur morphology is_a: HP:0006500 ! Abnormality of lower limb epiphysis morphology created_by: peter creation_date: 2008-03-28T06:28:00Z [Term] id: HP:0006500 name: Abnormality of lower limb epiphysis morphology def: "An anomaly of one or more epiphyses of one or both legs." [] synonym: "Abnormal shape of end part of lower limb end bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality involving the epiphyses of the lower limbs" EXACT [] xref: UMLS:C4021595 is_a: HP:0002814 ! Abnormality of the lower limb is_a: HP:0006505 ! Abnormality of limb epiphysis morphology created_by: peter creation_date: 2008-03-28T06:31:00Z [Term] id: HP:0006501 name: Aplasia/Hypoplasia of the radius alt_id: HP:0005718 def: "A small/hypoplastic or absent/aplastic radius." [HPO:probinson] synonym: "Absence or underdevelopment of the radius bone of the arm" EXACT [] synonym: "Absent/small radius" EXACT [ORCID:0000-0001-6908-9849] synonym: "Absent/underdeveloped radius" EXACT [ORCID:0000-0001-6908-9849] synonym: "Radial aplasia/hypoplasia" EXACT [] xref: UMLS:C2749463 is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0006503 ! Aplasia/hypoplasia involving forearm bones created_by: peter creation_date: 2008-03-28T06:32:00Z [Term] id: HP:0006502 name: Aplasia/Hypoplasia involving the carpal bones def: "Absence or underdevelopment of the carpal bones." [HPO:curators] synonym: "Absent/small wrist bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped wrist bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025033 is_a: HP:0001191 ! Abnormality of the carpal bones is_a: HP:0005927 ! Aplasia/hypoplasia involving bones of the hand created_by: peter creation_date: 2008-03-28T06:35:00Z [Term] id: HP:0006503 name: Aplasia/hypoplasia involving forearm bones def: "Absence (due to failure to form) or underdevelopment of one or more forearm bones." [HPO:probinson] synonym: "Absent/small forearm bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped forearm bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025032 is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs is_a: HP:0040072 ! Abnormality of forearm bone created_by: peter creation_date: 2008-03-28T06:45:00Z [Term] id: HP:0006504 name: Anomaly of the limb diaphyses def: "A structural abnormality of a diaphysis of the arm or leg." [HPO:probinson] synonym: "Abnormality involving the diaphyses of the limbs" EXACT [] synonym: "Abnormality of shaft of long bone of the limbs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021594 is_a: HP:0000940 ! Abnormal diaphysis morphology is_a: HP:0002813 ! Abnormality of limb bone morphology created_by: peter creation_date: 2008-03-28T06:47:00Z [Term] id: HP:0006505 name: Abnormality of limb epiphysis morphology def: "An anomaly of one or more epiphyses of a limb." [] comment: An epiphysis is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. synonym: "Abnormal shape of end part of limb bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality involving the epiphyses of the limbs" EXACT [] xref: UMLS:C4021593 is_a: HP:0002813 ! Abnormality of limb bone morphology is_a: HP:0005930 ! Abnormality of epiphysis morphology created_by: peter creation_date: 2008-03-28T06:48:00Z [Term] id: HP:0006507 name: Aplasia/hypoplasia of the humerus def: "Absence (due to failure to form) or underdevelopment of the humerus." [HPO:probinson] synonym: "Absent/small long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025031 is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs created_by: peter creation_date: 2008-03-29T09:15:00Z [Term] id: HP:0006508 name: Abnormality of tibial epiphyses synonym: "Abnormality of end part of shinbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025030 is_a: HP:0002992 ! Abnormality of tibia morphology is_a: HP:0006500 ! Abnormality of lower limb epiphysis morphology created_by: peter creation_date: 2008-03-29T09:19:00Z [Term] id: HP:0006509 name: Diverticulosis of trachea synonym: "Tracheal diverticulum" EXACT [http://radiopaedia.org/articles/tracheal-diverticulum, ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:14011008 xref: UMLS:C0340213 is_a: HP:0002778 ! Abnormal trachea morphology [Term] id: HP:0006510 name: Chronic obstructive pulmonary disease def: "An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities." [PMID:25943942] comment: COPD is usually conceptualized as a disease entity. It is heterogeneous histologically and pathogenically, and conventionally includes emphysema and chronic bronchitis, It is included as a phenotype term as COPD is often annotated as a feature of other diseases. synonym: "COPD" EXACT HP:0045077 [] xref: MSH:D029424 xref: SNOMEDCT_US:13645005 xref: UMLS:C0024117 is_a: HP:0006536 ! Obstructive lung disease [Term] id: HP:0006511 name: Laryngeal stridor def: "An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat." [HPO:probinson] comment: The laryngeal stridor sound is usually heard during inspiratory phase, also called inspiratory stridor, and may accompanied by inspiratory difficulty in breathing. It may be due to abnormal flaccidity of the epiglottis or arytenoids. synonym: "Laryngeal stidor" EXACT [] xref: MSH:D007826 xref: SNOMEDCT_US:406444002 xref: SNOMEDCT_US:41432000 xref: SNOMEDCT_US:53787002 xref: UMLS:C0023066 is_a: HP:0025424 ! Abnormal larynx physiology [Term] id: HP:0006514 name: Intraalveolar nodular calcifications xref: UMLS:C4025028 is_a: HP:0002088 ! Abnormal lung morphology is_a: HP:0010766 ! Ectopic calcification [Term] id: HP:0006515 name: Interstitial pneumonitis xref: MSH:D017563 xref: SNOMEDCT_US:64667001 xref: UMLS:C0206061 is_a: HP:0006530 ! Interstitial pulmonary abnormality [Term] id: HP:0006516 name: Hypersensitivity pneumonitis xref: MSH:D000542 xref: SNOMEDCT_US:37471005 xref: UMLS:C0002390 is_a: HP:0002088 ! Abnormal lung morphology [Term] id: HP:0006517 name: Alveolar proteinosis def: "Abnormal accumulation of surfactant-like, periodic acid-schiff-positive lipoproteinaceous material in macrophages within the alveolar spaces and distal bronchioles. This results in gas exchange impairment leading to dyspnea and alveolar infiltrates." [HPO:probinson, pmid:22891182] xref: MSH:D011649 xref: SNOMEDCT_US:10501004 xref: UMLS:C0034050 is_a: HP:0002088 ! Abnormal lung morphology [Term] id: HP:0006518 name: Pulmonary venous occlusion def: "Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition." [HPO:probinson, NIHR:ldaugherty, PMID:20456932, PMID:27009171] comment: This feature can be observed by histological examination of lung tissue. The feature can be seen in pulmonary veno-occlusive disease (PVOD). PVOD is characterised by diffuse occlusion of the pulmonary veins by fibrous tissue, pulmonary venous congestion and associated complications including severe pulmonary hypertension (pHTN), non-cardiogenic pulmonary oedema, hypoxia and right-ventricular failure. Clinical presentation is typically non-specific, including dyspnoea, fatigue and cough. synonym: "Pulmonary venoocclusive disease" RELATED [] synonym: "Pulmonary venous occlusion" EXACT [] synonym: "Pulmonary venous stenosis" EXACT [] xref: Fyler:3002 xref: MSH:D011668 xref: SNOMEDCT_US:89420002 xref: UMLS:C0034091 xref: UMLS:C4280802 is_a: HP:0030968 ! Abnormal pulmonary vein morphology [Term] id: HP:0006519 name: Alveolar cell carcinoma alt_id: HP:0006757 def: "Adenocarcinoma of the Bronchus." [HPO:probinson] xref: MSH:D002282 xref: SNOMEDCT_US:112677002 xref: SNOMEDCT_US:36310008 xref: SNOMEDCT_US:373627005 xref: UMLS:C0007120 is_a: HP:0100552 ! Neoplasm of the tracheobronchial system [Term] id: HP:0006520 name: Progressive pulmonary function impairment xref: UMLS:C1849570 is_a: HP:0005952 ! Decreased pulmonary function [Term] id: HP:0006521 name: Pulmonary lymphangiectasia alt_id: HP:0006526 alt_id: HP:0006551 def: "Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid." [HPO:probinson] synonym: "Pulmonary lymphangiectasis" EXACT [] xref: UMLS:C1855480 is_a: HP:0006529 ! Abnormal pulmonary lymphatics is_a: HP:0031842 ! Lymphangiectasis [Term] id: HP:0006522 name: Repeated pneumothoraces synonym: "Repeated pneumothorax" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4025027 is_a: HP:0002107 ! Pneumothorax [Term] id: HP:0006524 name: Tracheobronchial leiomyomatosis xref: UMLS:C3806786 is_a: HP:0100552 ! Neoplasm of the tracheobronchial system [Term] id: HP:0006525 name: obsolete Lung segmentation defects is_obsolete: true replaced_by: HP:0002101 [Term] id: HP:0006527 name: Lymphoid interstitial pneumonia def: "A lymphocyte-predominant infiltration of the lungs characterized by bibasilar pulmonary infiltrates with dense interstitial accumulations of lymphocytes and plasma cells." [HPO:probinson] comment: Associated clinical manifestations often include fever, cough, and shortness of breath. synonym: "Lymphoid interstitial pneumonitis" EXACT [] xref: MSH:C562489 xref: SNOMEDCT_US:44274007 xref: UMLS:C0264511 is_a: HP:0006530 ! Interstitial pulmonary abnormality [Term] id: HP:0006528 name: Chronic lung disease def: "According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities." [IMM:tkuijpers] synonym: "Chronic lung disease" EXACT layperson [] xref: SNOMEDCT_US:413839001 xref: UMLS:C0746102 is_a: HP:0002088 ! Abnormal lung morphology [Term] id: HP:0006529 name: Abnormal pulmonary lymphatics def: "An abnormality of the pulmonary lymphatic chain." [HPO:probinson] xref: UMLS:C4025026 is_a: HP:0002088 ! Abnormal lung morphology is_a: HP:0100763 ! Abnormality of the lymphatic system [Term] id: HP:0006530 name: Interstitial pulmonary abnormality alt_id: HP:0006513 alt_id: HP:0006547 def: "Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis." [HPO:probinson] synonym: "Abnormality in area between air sacs in lung" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Interstitial lung disease" EXACT [] synonym: "Interstitial pulmonary disease" EXACT [] xref: MSH:D017563 xref: SNOMEDCT_US:233703007 xref: UMLS:C0206062 is_a: HP:0002088 ! Abnormal lung morphology [Term] id: HP:0006531 name: Pleural lymphangiectasia xref: UMLS:C1856139 is_a: HP:0002103 ! Abnormality of the pleura is_a: HP:0031842 ! Lymphangiectasis [Term] id: HP:0006532 name: Recurrent pneumonia alt_id: HP:0002095 alt_id: HP:0002096 def: "An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia." [HPO:probinson, pmid:15750465] comment: Recurrent pneumonia is defined as two or more episodes in a single year, or at least three episodes ever, with radiographic clearing of densities between occurrences. synonym: "Multiple pulmonary infections" EXACT [] synonym: "Pneumonia, recurrent" EXACT [HPO:skoehler] synonym: "Pneumonia, recurrent episodes" EXACT [] synonym: "Pulmonary infection" EXACT [] synonym: "Pulmonary infections" EXACT [] synonym: "pulmonary infections, recurrent" EXACT [HPO:skoehler] synonym: "Recurrent pneumonia" EXACT layperson [] synonym: "Recurrent pulmonary infections" EXACT [] xref: SNOMEDCT_US:128601007 xref: SNOMEDCT_US:699014000 xref: UMLS:C0694550 xref: UMLS:C0748140 xref: UMLS:C0876973 xref: UMLS:C1859117 is_a: HP:0002090 ! Pneumonia is_a: HP:0002783 ! Recurrent lower respiratory tract infections [Term] id: HP:0006533 name: Bronchodysplasia xref: UMLS:C4025025 is_a: HP:0025426 ! Abnormal bronchus morphology [Term] id: HP:0006535 name: Recurrent intrapulmonary hemorrhage def: "A recurrent hemorrhage occurring within the lung." [HPO:gcarletti] synonym: "Recurrent bleeding into lungs" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Recurrent pulmonary hemorrhage" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C3805919 is_a: HP:0040223 ! Pulmonary hemorrhage [Term] id: HP:0006536 name: Obstructive lung disease alt_id: HP:0006512 def: "Obstruction of conducting airways of the lung." [HPO:probinson] synonym: "Obstructive lung disease" EXACT layperson [] xref: MSH:D008173 xref: UMLS:C0600260 is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0006538 name: Recurrent bronchopulmonary infections def: "An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections." [HPO:probinson] synonym: "Recurrent infections in bronchi and lungs" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C2169795 is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0006539 name: Bronchial cartilage hypoplasia synonym: "Underdevelopment of the bronical cartilage" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025024 is_a: HP:0025426 ! Abnormal bronchus morphology [Term] id: HP:0006541 name: Chronic obstructive airway disease from birth synonym: "Chronic obstructive airway disease from birth" EXACT layperson [] xref: UMLS:C3550579 is_a: HP:0006536 ! Obstructive lung disease [Term] id: HP:0006543 name: Cardiorespiratory arrest xref: MSH:D006323 xref: SNOMEDCT_US:410430005 xref: UMLS:C0600228 is_a: HP:0005943 ! Respiratory arrest [Term] id: HP:0006544 name: Extrapulmonary sequestrum def: "A type of pulmonary sequestration that is completely enclosed in its own pleural sac, occurring above, within, or below the diaphragm, and without communication with the tracheobronchial tree." [HPO:probinson] comment: Extrapulmonary sequestra nearly all appear on the left side. synonym: "Diaphragmatic sequestrum" RELATED [] xref: UMLS:C4020814 xref: UMLS:C4025023 is_a: HP:0100632 ! Pulmonary sequestration [Term] id: HP:0006548 name: Pulmonary arteriovenous malformation alt_id: HP:0002114 alt_id: HP:0006537 synonym: "Pulmonary av malformation" EXACT [] xref: Fyler:2210 xref: UMLS:C1857690 is_a: HP:0004930 ! Abnormality of the pulmonary vasculature is_a: HP:0100026 ! Arteriovenous malformation [Term] id: HP:0006549 name: Unilateral primary pulmonary dysgenesis synonym: "Primary pulmonary dysgenesis, unilateral" EXACT [] xref: UMLS:C4021592 is_a: HP:0002088 ! Abnormal lung morphology [Term] id: HP:0006552 name: Fibrocystic lung disease xref: UMLS:C1397290 is_a: HP:0005948 ! Multiple pulmonary cysts [Term] id: HP:0006554 name: Acute hepatic failure alt_id: HP:0006556 def: "Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver." [HPO:curators] synonym: "Acute liver failure" EXACT layperson [] xref: MSH:D017114 xref: SNOMEDCT_US:197270009 xref: SNOMEDCT_US:235884008 xref: UMLS:C0162557 is_a: HP:0001399 ! Hepatic failure [Term] id: HP:0006555 name: Diffuse hepatic steatosis def: "A diffuse form of hepatic steatosis." [HPO:probinson] synonym: "Hepatic steatosis, diffuse" EXACT [] xref: UMLS:C1849686 is_a: HP:0001397 ! Hepatic steatosis [Term] id: HP:0006557 name: Polycystic liver disease xref: MSH:C536330 xref: SNOMEDCT_US:72925005 xref: UMLS:C0158683 is_a: HP:0006706 ! Cystic liver disease [Term] id: HP:0006558 name: Decreased mitochondrial complex III activity in liver tissue def: "Decreased activity of complex III of the mitochondrion in the liver." [HPO:probinson] comment: Complex III, also known as ubiquinol-cytochrome c oxidoreductase or cytochrome bc1 complex, is a multisubunit integral membrane complex of the mitochondrial transport chain, which catalyzes electron transfer from ubiquinol to cytochrome c and couples this process to electrogenic translocation of protons across the mitochondrial inner membrane. Mitochondrial complex III is integrated in the inner mitochondrial membrane. xref: UMLS:C4025022 is_a: HP:0025155 ! Abnormality of hepatobiliary system physiology [Term] id: HP:0006559 name: Hepatic calcification def: "The presence of abnormal calcium deposition in the liver." [HPO:probinson] synonym: "Liver calcifications" EXACT [] xref: UMLS:C1696466 is_a: HP:0010766 ! Ectopic calcification is_a: HP:0410042 ! Abnormal liver morphology [Term] id: HP:0006560 name: Biliary hyperplasia def: "Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia." [HPO:probinson] synonym: "Bile duct hyperplasia" EXACT [] xref: UMLS:C3672440 xref: UMLS:C3686778 is_a: HP:0012440 ! Abnormal biliary tract morphology [Term] id: HP:0006561 name: Lipid accumulation in hepatocytes xref: UMLS:C1837257 is_a: HP:0031137 ! Storage in hepatocytes [Term] id: HP:0006562 name: Viral hepatitis def: "Inflammation of the liver due to infection with a virus." [HPO:probinson] xref: SNOMEDCT_US:3738000 xref: UMLS:C0042721 is_a: HP:0012115 ! Hepatitis [Term] id: HP:0006563 name: Malformation of the hepatic ductal plate xref: UMLS:C1857519 is_a: HP:0004297 ! Abnormality of the biliary system [Term] id: HP:0006564 name: Fluctuating hepatomegaly def: "Intermittently increased size of the liver." [HPO:probinson] xref: UMLS:C1835881 is_a: HP:0002240 ! Hepatomegaly [Term] id: HP:0006565 name: Increased hepatocellular lipid droplets def: "An abnormal increase in the amount of intracellular lipid droplets in hepatocytes." [HPO:probinson] comment: Lipid droplets, rich in triglycerides and cholesterol esters, are cellular ipid storage organelles. xref: UMLS:C4025021 is_a: HP:0006561 ! Lipid accumulation in hepatocytes [Term] id: HP:0006566 name: Neonatal cholestatic liver disease xref: UMLS:C1859162 is_a: HP:0002611 ! Cholestatic liver disease [Term] id: HP:0006568 name: Increased hepatic glycogen content def: "An increase in the amount of glycogen stored in hepatocytes compared to normal." [HPO:probinson] comment: Glycogen acts as secondary long-term energy storage in the liver and other organs. Its intracellular concentration can be increased in some disease states such as obesity. synonym: "Increased liver glycogen content" EXACT [] xref: UMLS:C1856285 is_a: HP:0500030 ! Abnormal hepatic glycogen storage [Term] id: HP:0006571 name: Reduced number of intrahepatic bile ducts def: "The presence of reduced numbers of intrahepatic bile duct than normal." [HPO:probinson] synonym: "Hepatic ductopenia" EXACT [] synonym: "Intrahepatic duct deficiency" RELATED [] xref: UMLS:C1861621 xref: UMLS:C4021591 is_a: HP:0011040 ! Abnormality of the intrahepatic bile duct [Term] id: HP:0006572 name: Subacute progressive viral hepatitis xref: UMLS:C1861901 is_a: HP:0006562 ! Viral hepatitis [Term] id: HP:0006573 name: Acute hepatic steatosis def: "An acute form of hepatic steatosis." [HPO:probinson] synonym: "Acute fatty liver" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4025020 is_a: HP:0001397 ! Hepatic steatosis [Term] id: HP:0006574 name: Hepatic arteriovenous malformation alt_id: HP:0006569 synonym: "Liver arteriovenous malformation" EXACT [] xref: SNOMEDCT_US:84150000 xref: UMLS:C0520557 is_a: HP:0006707 ! Abnormality of the hepatic vasculature is_a: HP:0100026 ! Arteriovenous malformation [Term] id: HP:0006575 name: Intrahepatic cholestasis with episodic jaundice xref: UMLS:C4025019 is_a: HP:0001406 ! Intrahepatic cholestasis [Term] id: HP:0006576 name: Hepatic vascular malformations synonym: "Liver vascular malformations" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C1861790 is_a: HP:0006707 ! Abnormality of the hepatic vasculature [Term] id: HP:0006577 name: Macronodular cirrhosis def: "A type of cirrhosis characterized by the presence of large regenerative nodules." [HPO:probinson] comment: In macronodular cirrhosis (post-necrotic cirrhosis), the nodules are larger than 3 mm. xref: SNOMEDCT_US:43904005 xref: SNOMEDCT_US:86454000 xref: UMLS:C2004456 is_a: HP:0001394 ! Cirrhosis [Term] id: HP:0006579 name: Prolonged neonatal jaundice alt_id: HP:0000986 def: "Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants." [HPO:probinson] synonym: "Jaundice, neonatal" RELATED [HPO:skoehler] synonym: "Neonatal jaundice" EXACT [] synonym: "Prolonged yellowing of skin in newborn" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D007567 xref: SNOMEDCT_US:387712008 xref: UMLS:C0022353 xref: UMLS:C1859236 is_a: HP:0000952 ! Jaundice [Term] id: HP:0006580 name: Portal fibrosis def: "Fibroblast proliferation and fiber expansion from the portal areas to the lobule." [HPO:probinson] comment: Portal fibrosis can be seen in viral hepatitis and other types of liver disease. synonym: "Portal fibrosis shown on biopsy" RELATED [HPO:skoehler] xref: UMLS:C2677002 xref: UMLS:C3805083 is_a: HP:0004297 ! Abnormality of the biliary system [Term] id: HP:0006581 name: Depletion of mitochondrial DNA in liver def: "An abnormal reduction in the number of mitochondria in hepatocytes." [HPO:probinson] xref: UMLS:C4025018 is_a: HP:0410042 ! Abnormal liver morphology [Term] id: HP:0006582 name: Reye syndrome-like episodes def: "Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure." [] comment: This feature has been observed in individuals withe mitochondrial DNA depletion syndrome-6 (MTDPS6), also known as Navajo neurohepatopathy [MIM:256810]. xref: UMLS:C1850413 is_a: HP:0025155 ! Abnormality of hepatobiliary system physiology [Term] id: HP:0006583 name: Fatal liver failure in infancy synonym: "Fatal liver failure in infancy" EXACT layperson [] xref: UMLS:C4025017 is_a: HP:0001399 ! Hepatic failure [Term] id: HP:0006584 name: Small abnormally formed scapulae alt_id: HP:0006629 synonym: "Small abnormally formed scapula" EXACT [] synonym: "Small abnormally formed shoulder blade" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1861226 is_a: HP:0000882 ! Hypoplastic scapulae [Term] id: HP:0006585 name: Congenital pseudoarthrosis of the clavicle alt_id: HP:0006612 alt_id: HP:0006661 def: "The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle." [HPO:probinson, pmid:22295044] comment: In congenital pseudarthrosis of the clavicle, the two primary ossification centers fail to unite, probably due to a disruption of diaphyseal membranous ossification. See pmid:22295044, Figure 1, for the radiographic appearance of this feature. synonym: "Bipartite clavicle" RELATED [] synonym: "Clavicle pseudoarthrosis" EXACT [] synonym: "Pseudoarthrosis of clavicle" EXACT [] xref: SNOMEDCT_US:249685004 xref: SNOMEDCT_US:249690001 xref: UMLS:C0426806 xref: UMLS:C0426811 is_a: HP:0005864 ! Pseudoarthrosis is_a: HP:0006710 ! Aplasia/Hypoplasia of the clavicles [Term] id: HP:0006587 name: Straight clavicles def: "An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved ." [HPO:probinson] synonym: "Straight collarbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025016 is_a: HP:0000889 ! Abnormality of the clavicle [Term] id: HP:0006589 name: Flaring of lower rib cage synonym: "Flaring of lower rib cage" EXACT layperson [] xref: UMLS:C1855196 is_a: HP:0000904 ! Flaring of rib cage [Term] id: HP:0006590 name: Premature sternal synostosis def: "Prematurely closed sternal sutures." [HPO:probinson, pmid:13542801] synonym: "Prematurely closed sternal sutures" EXACT [] xref: UMLS:C4021590 is_a: HP:0006714 ! Aplasia/Hypoplasia of the sternum [Term] id: HP:0006591 name: Absent glenoid fossa def: "Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus." [HPO:probinson] synonym: "Aplasia of the glenoid fossa" EXACT [] xref: UMLS:C4021589 is_a: HP:0011912 ! Abnormality of the glenoid fossa [Term] id: HP:0006593 name: Anomalous rib insertion to vertebrae xref: UMLS:C1861704 is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0006595 name: Scapulohumeral synostosis alt_id: HP:0010792 def: "Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint." [HPO:probinson] synonym: "Fusion of shoulder blade to long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Humero-scapulo synostosis" EXACT [] synonym: "Humeroscapular synostosis" EXACT [] synonym: "Synostosis of shoulder joint" EXACT [] xref: UMLS:C1865362 is_a: HP:0000782 ! Abnormality of the scapula is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0003043 ! Abnormality of the shoulder is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0100238 ! Synostosis involving bones of the upper limbs [Term] id: HP:0006596 name: Restricted chest movement synonym: "Restricted chest movement" EXACT layperson [] xref: UMLS:C4025015 is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0001547 ! Abnormality of the rib cage [Term] id: HP:0006597 name: Diaphragmatic paralysis def: "The presence of a paralyzed diaphragm." [HPO:probinson, pmid:3612666] comment: Loss of the ability to move the diaphragm for respiratory motions. Patients with complete diaphragm paralysis complain of gross orthopnoea, disturbed sleep and early morning headaches. They have shortness of breath on minimal exertion and, because they sleep poorly, they experience daytime fatigue. synonym: "Diaphragmatic paralysis" EXACT layperson [] synonym: "Paralyzed diaphragm" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D012133 xref: SNOMEDCT_US:64228003 xref: UMLS:C0035232 is_a: HP:0003470 ! Paralysis is_a: HP:0009113 ! Diaphragmatic weakness [Term] id: HP:0006598 name: Irregular ossification at anterior rib ends xref: UMLS:C1850083 is_a: HP:0012306 ! Abnormal rib ossification [Term] id: HP:0006599 name: Medial widening of clavicles xref: UMLS:C1866729 is_a: HP:0000889 ! Abnormality of the clavicle [Term] id: HP:0006600 name: Progressive calcification of costochondral cartilage xref: UMLS:C1968577 is_a: HP:0000919 ! Abnormality of the costochondral junction is_a: HP:0100593 ! Calcification of cartilage [Term] id: HP:0006603 name: Flared, irregular rib ends synonym: "Flared, irregular rib ends" EXACT layperson [] xref: UMLS:C1865833 is_a: HP:0000887 ! Cupped ribs [Term] id: HP:0006606 name: Irregular chondrocostal junctions alt_id: HP:0006658 def: "Irregular surface of the normally relatively smooth border between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum." [HPO:probinson] comment: The first seven pairs of ribs are connected with the sternum; the next three ribs are each articulated with the lower border of the cartilage of the preceding rib; the last two ribs have pointed extremities, which do not connect with the sternum. synonym: "Irregular costochondral margins" EXACT [] xref: UMLS:C1861199 is_a: HP:0000919 ! Abnormality of the costochondral junction [Term] id: HP:0006607 name: Precocious costochondral ossification def: "Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage." [HPO:probinson, pmid:10489169] comment: The costal cartilage typically calcifies with advancing age and is therefore easier to identify on radiographs obtained in older patients. xref: UMLS:C1849049 is_a: HP:0000919 ! Abnormality of the costochondral junction is_a: HP:0004348 ! Abnormality of bone mineral density is_a: HP:0012306 ! Abnormal rib ossification [Term] id: HP:0006608 name: Midclavicular hypoplasia def: "Underdevelopment of the middle portion of the clavicle." [HPO:probinson] synonym: "Underdeveloped middle portion of the collarbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1844530 is_a: HP:0000894 ! Short clavicles [Term] id: HP:0006610 name: Wide intermamillary distance alt_id: HP:0000779 alt_id: HP:0001554 def: "A larger than usual distance between the left and right nipple." [HPO:probinson] subset: hposlim_core synonym: "Wide-spaced nipples" EXACT layperson [] synonym: "Widely spaced nipples" EXACT layperson [] synonym: "Widely-spaced nipples" EXACT layperson [] xref: SNOMEDCT_US:423230008 xref: UMLS:C1827524 is_a: HP:0040157 ! Abnormal intermamillary distance [Term] id: HP:0006611 name: Decreased number of sternal ossification centers def: "A less than normal number of sternal ossification centers. The sternum is initially formed from bilateral sternal plates that chondrify and begin to fuse with ribs at 10 weeks gestational age. Ossification starts in the manubrium and upper part of the sternal body at the 6th month, in the middle of the sternal body at the 7th month, in the lower part of the body during the 1st postnatal year and in the xiphoid process between years 5 and 18. The number of ossification centers vary up to six, and it is the ossification centers that are visualized by prenatal ultrasound. This term describes a reduction in the number of ossification centers compared with age-related norms." [HPO:probinson, pmid:10204210] xref: UMLS:C1856223 is_a: HP:0011863 ! Abnormal sternal ossification [Term] id: HP:0006615 name: Absent in utero rib ossification def: "Lack of formation and mineralization of the ribs in utero." [HPO:probinson] synonym: "Absent rib calcification in utero" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1842695 is_a: HP:0012306 ! Abnormal rib ossification [Term] id: HP:0006619 name: Anterior rib punctate calcifications def: "Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs." [HPO:probinson] xref: UMLS:C1859120 is_a: HP:0012306 ! Abnormal rib ossification is_a: HP:0040059 ! Calcification of ribs [Term] id: HP:0006623 name: Costochondral joint sclerosis def: "Abnormal increase in density of the tissue at the costochondral junctions." [HPO:probinson] synonym: "Sclerotic costochondral joints" EXACT [] xref: UMLS:C4021588 is_a: HP:0000919 ! Abnormality of the costochondral junction [Term] id: HP:0006625 name: Multifocal breast carcinoma def: "Breast carcinoma that is bilateral or otherwise multifocal." [HPO:probinson] synonym: "Multifocal breast cancer" EXACT [] xref: UMLS:C2986662 is_a: HP:0003002 ! Breast carcinoma [Term] id: HP:0006628 name: Absent sternal ossification alt_id: HP:0006654 alt_id: HP:0006666 def: "Lack of formation of mineralized bony tissue of the sternum." [HPO:probinson] synonym: "Absent bone maturation in sternum" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Absent sternal mineralization" EXACT [] synonym: "Lack of sternal ossification" EXACT [] xref: UMLS:C1857074 xref: UMLS:C4280443 is_a: HP:0006714 ! Aplasia/Hypoplasia of the sternum is_a: HP:0011863 ! Abnormal sternal ossification [Term] id: HP:0006631 name: Hypoplastic distal segments of scapulae synonym: "Small distal segments of the shoulder blade" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Small outermost segments of shoulder blade" BROAD [] synonym: "Underdeveloped outermost segments of shoulder blade" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025014 is_a: HP:0000882 ! Hypoplastic scapulae [Term] id: HP:0006633 name: Glenoid fossa hypoplasia alt_id: HP:0006632 def: "Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus." [HPO:probinson] subset: hposlim_core synonym: "Glenoid hypoplasia" EXACT [] synonym: "Hypoplastic glenoid fossa" EXACT [] xref: UMLS:C1834384 is_a: HP:0011912 ! Abnormality of the glenoid fossa [Term] id: HP:0006634 name: Osteosclerosis of ribs def: "Osteosclerosis of ribs (increased density related to increased bone mass)." [HPO:probinson] synonym: "Increased bone density in ribs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4025013 is_a: HP:0012306 ! Abnormal rib ossification [Term] id: HP:0006637 name: Sternal punctate calcifications xref: UMLS:C1859121 is_a: HP:0000766 ! Abnormality of the sternum is_a: HP:0010766 ! Ectopic calcification [Term] id: HP:0006638 name: Midclavicular aplasia def: "Developmental defect resulting in congenital absence of the middle portion of the clavicle." [HPO:probinson] synonym: "Missing middle part of collarbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1844529 is_a: HP:0006710 ! Aplasia/Hypoplasia of the clavicles [Term] id: HP:0006640 name: Multiple rib fractures def: "More than one fracture of the ribs." [HPO:probinson] synonym: "Multiple rib fractures" EXACT layperson [] xref: SNOMEDCT_US:1261007 xref: UMLS:C0272567 is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0006641 name: Prominent floating ribs synonym: "Prominent floating ribs" EXACT layperson [] xref: UMLS:C4025012 is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0006642 name: Large sternal ossification centers xref: UMLS:C1865241 is_a: HP:0011863 ! Abnormal sternal ossification [Term] id: HP:0006643 name: Fused sternal ossification centers xref: UMLS:C1859376 is_a: HP:0011863 ! Abnormal sternal ossification [Term] id: HP:0006644 name: Thoracic dysplasia xref: UMLS:C1406921 is_a: HP:0001547 ! Abnormality of the rib cage [Term] id: HP:0006645 name: Thin clavicles def: "Abnormally reduced diameter (cross section) of the clavicles." [HPO:probinson] synonym: "Thin collarbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:298764003 xref: UMLS:C0575535 is_a: HP:0000889 ! Abnormality of the clavicle [Term] id: HP:0006646 name: Costal cartilage calcification alt_id: HP:0006662 def: "Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax." [HPO:probinson] synonym: "Cartilaginous ossification of rib" EXACT [] xref: UMLS:C1855608 is_a: HP:0012306 ! Abnormal rib ossification is_a: HP:0100593 ! Calcification of cartilage [Term] id: HP:0006647 name: Congenital microthorax xref: UMLS:C4025011 is_a: HP:0005257 ! Thoracic hypoplasia [Term] id: HP:0006649 name: Costochondral pain def: "Chest wall pain in the area of the costochondral junctions." [HPO:probinson] comment: Costochondral pain is in the differential diagnosis of chest pain, being a relatively benign cause compared to myocardial ischemia. Costochondral pain can be caused by costochondritis. synonym: "Costochondral junction pain" EXACT [] xref: UMLS:C4021587 is_a: HP:0000919 ! Abnormality of the costochondral junction is_a: HP:0012531 ! Pain [Term] id: HP:0006650 name: Thickening of the lateral border of the scapula synonym: "Thickening of the lateral border of the shoulder blade" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1834383 is_a: HP:0000782 ! Abnormality of the scapula [Term] id: HP:0006655 name: Rib segmentation abnormalities xref: UMLS:C1968999 is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0006657 name: Hypoplasia of first ribs alt_id: HP:0006614 alt_id: HP:0006653 synonym: "Hypoplastic first rib" EXACT [] synonym: "Hypoplastic first ribs" EXACT [] synonym: "Small first rib" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Underdeveloped first rib" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1834386 is_a: HP:0000773 ! Short ribs [Term] id: HP:0006659 name: Internally rotated shoulders synonym: "Internally rotated shoulders" EXACT layperson [] xref: UMLS:C1862491 is_a: HP:0003043 ! Abnormality of the shoulder [Term] id: HP:0006660 name: Aplastic clavicle def: "Absence of the clavicles as a developmental defect." [HPO:probinson] subset: hposlim_core synonym: "Absent clavicles" EXACT [] synonym: "Absent collarbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplastic clavicles" EXACT HP:0045078 [] xref: UMLS:C1857665 is_a: HP:0006710 ! Aplasia/Hypoplasia of the clavicles [Term] id: HP:0006665 name: Coat hanger sign of ribs def: "An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger)." [HPO:probinson, pmid:12712270, pmid:21607596] comment: The coat hanger abnormality of the ribs is said to be a useful diagnostic marker of paternal uniparental disomy of chromosome 14. synonym: "Coat hanger sign of ribs" EXACT layperson [] xref: UMLS:C4025010 is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0006668 name: Twelfth rib hypoplasia synonym: "Small twelfth rib" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Underdeveloped twelfth rib" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1859361 is_a: HP:0000773 ! Short ribs [Term] id: HP:0006670 name: Impaired myocardial contractility xref: UMLS:C4025009 is_a: HP:0006673 ! Reduced systolic function [Term] id: HP:0006671 name: Paroxysmal atrial tachycardia xref: SNOMEDCT_US:195069001 xref: UMLS:C0030587 is_a: HP:0004763 ! Paroxysmal supraventricular tachycardia [Term] id: HP:0006673 name: Reduced systolic function xref: UMLS:C4025008 is_a: HP:0011025 ! Abnormal cardiovascular system physiology [Term] id: HP:0006677 name: Prolonged QRS complex def: "Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec." [HPO:probinson] synonym: "Prolonged QRS complex on EKG" EXACT [] xref: SNOMEDCT_US:991002 xref: UMLS:C0235475 is_a: HP:0025074 ! Abnormal QRS complex [Term] id: HP:0006679 name: Granulomatous coronary arteritis def: "Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells." [HPO:probinson, PMID:937513] comment: A granuloma is a compact (organized) collection of mature mononuclear phagocytes (macrophages and/or epithelioid cells) which may or may not be accompanied by accessory features such as necrosis or the infiltration of other inflammatory leukocytes (Adams DO. The granulomatous inflammatory response. Am J Pathol 1976:84:163-192). xref: UMLS:C4025007 is_a: HP:0006704 ! Abnormal coronary artery morphology is_a: HP:0012089 ! Arteritis [Term] id: HP:0006681 name: Absent atrioventricular node xref: UMLS:C4025006 is_a: HP:0001678 ! Atrioventricular block [Term] id: HP:0006682 name: Ventricular extrasystoles alt_id: HP:0006678 def: "Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node." [HPO:probinson] comment: A premature ventricular contraction may be perceived as a skipped beat or as palpitations. synonym: "Extra heart beat" EXACT layperson [] synonym: "Missed heartbeat" RELATED layperson [] synonym: "Premature ventricular contractions" EXACT [] synonym: "Skipped heartbeat" RELATED layperson [] xref: MSH:D018879 xref: SNOMEDCT_US:17338001 xref: SNOMEDCT_US:251175005 xref: UMLS:C0151636 is_a: HP:0004308 ! Ventricular arrhythmia [Term] id: HP:0006683 name: Abnormal ventricular filling def: "An abnormality of filling of a ventricle with blood during diastole." [HPO:probinson] comment: Two diastolic properties, the rate of ventricular relaxation and the ventricular compliance are especially important determinants of ventricular filling. xref: UMLS:C4025005 is_a: HP:0030872 ! Abnormal cardiac ventricular function [Term] id: HP:0006684 name: Ventricular preexcitation with multiple accessory pathways def: "A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction." [HPO:probinson] xref: UMLS:C4025004 is_a: HP:0004309 ! Ventricular preexcitation [Term] id: HP:0006685 name: Endocardial fibrosis alt_id: HP:0005169 def: "The presence of excessive connective tissue in the endocardium." [HPO:probinson, PMID:29043203] synonym: "Endomyocardial fibrosis" EXACT [] xref: MSH:D004719 xref: SNOMEDCT_US:398716006 xref: UMLS:C0553980 is_a: HP:0004306 ! Abnormal endocardium morphology [Term] id: HP:0006687 name: Aortic tortuosity def: "Abnormal tortuous (i.e., twisted) form of the aorta." [HPO:probinson] xref: UMLS:C4025003 is_a: HP:0001679 ! Abnormal aortic morphology [Term] id: HP:0006688 name: Paroxysmal tachycardia xref: MSH:D013614 xref: SNOMEDCT_US:12026006 xref: UMLS:C0039236 is_a: HP:0001649 ! Tachycardia [Term] id: HP:0006689 name: Bacterial endocarditis def: "A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves." [HPO:sdoelken] synonym: "Infective endocarditis" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:D004697 xref: SNOMEDCT_US:301183007 xref: UMLS:C0014121 is_a: HP:0100584 ! Endocarditis created_by: doelkens creation_date: 2010-12-27T02:57:48Z [Term] id: HP:0006690 name: Myocardial calcification def: "Calcium deposition in the myocardium." [HPO:probinson] comment: Calcification affecting the muscle layer of the heart. synonym: "Calcified myocardium" EXACT [] xref: Fyler:1889 xref: UMLS:C1096561 is_a: HP:0001713 ! Abnormal cardiac ventricle morphology is_a: HP:0011915 ! Cardiovascular calcification [Term] id: HP:0006691 name: Pulmonic valve myxoma xref: UMLS:C4025002 is_a: HP:0001641 ! Abnormal pulmonary valve morphology [Term] id: HP:0006692 name: Short chordae tendineae of the tricuspid valve def: "Abnormally short chordae tendineae of the tricuspid valve." [HPO:probinson] comment: The chordae tendineae connect the papillary muscles to the tricuspid valve and the mitral valve. xref: UMLS:C4025001 is_a: HP:0031442 ! Abnormal tricuspid chordae tendinae morphology [Term] id: HP:0006693 name: Myocardial steatosis def: "Steatosis in the myocardium." [HPO:probinson] xref: UMLS:C4025000 is_a: HP:0001713 ! Abnormal cardiac ventricle morphology [Term] id: HP:0006694 name: Early progressive calcific cardiac valvular disease xref: UMLS:C4024999 is_a: HP:0005146 ! Cardiac valve calcification [Term] id: HP:0006695 name: Atrioventricular canal defect alt_id: HP:0005139 alt_id: HP:0005298 alt_id: HP:0010439 def: "A defect of the atrioventricular septum of the heart." [HPO:probinson, pmid:12632326] comment: During atrioventricular valvuloseptal morphogenesis, the endocardial cushions expand as they are infiltrated by extracellular matrix secreted from the surrounding myocardium. The cushions then fuse and are remodeled to form the atrioventricular valves and septa. Failure of this process results in AVSD, with the degree of severity dependent on the stage at which the developmental failure occurs. AVSD are a spectrum of cardiac malformations that result in a persistent common atrioventricular canal. synonym: "Atrioventricular septal defect" EXACT [] synonym: "Endocardial cushion defect" EXACT [] synonym: "Hole in center of heart" BROAD layperson [https://orcid.org/0000-0002-6548-5200] xref: Fyler:0606 xref: Fyler:1100 xref: Fyler:606 xref: MSH:C562831 xref: MSH:D004694 xref: SNOMEDCT_US:15459006 xref: UMLS:C0014116 xref: UMLS:C1389016 is_a: HP:0001671 ! Abnormal cardiac septum morphology [Term] id: HP:0006696 name: Polymorphic and polytopic ventricular extrasystoles xref: UMLS:C4024998 is_a: HP:0006682 ! Ventricular extrasystoles [Term] id: HP:0006698 name: Dilatation of the ventricular cavity def: "A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole." [HPO:probinson] comment: Aneurysm is considered a severe form of dilatation. Ventricular aneurysms may have rim of calcium in the affected regions of the ventricular wall (which can become fibrotic). Thromboembolism is a potential complication. Ventricular aneurysms can be diagnosed by ventriculography. synonym: "Ventricular aneurysm" NARROW [] xref: SNOMEDCT_US:90539001 xref: UMLS:C0392464 is_a: HP:0001713 ! Abnormal cardiac ventricle morphology is_a: HP:0002617 ! Dilatation [Term] id: HP:0006699 name: Premature atrial contractions def: "A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites." [] synonym: "Atrial ectopic beats" EXACT [] synonym: "Atrial premature complex" EXACT [] synonym: "Ectopic supraventricular rhythms" EXACT [] synonym: "PACs" EXACT HP:0045077 [] synonym: "Premature supraventricular beats" EXACT [] xref: MSH:D018880 xref: SNOMEDCT_US:284470004 xref: SNOMEDCT_US:287057009 xref: SNOMEDCT_US:406461004 xref: SNOMEDCT_US:63593006 xref: UMLS:C0033036 is_a: HP:0005115 ! Supraventricular arrhythmia [Term] id: HP:0006702 name: Coronary artery dissection def: "Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery." [HPO:probinson, pmid:20448134] xref: MSH:C565153 xref: UMLS:C1852540 is_a: HP:0006704 ! Abnormal coronary artery morphology [Term] id: HP:0006703 name: Aplasia/Hypoplasia of the lungs synonym: "Absent/small lungs" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped lungs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024996 is_a: HP:0002088 ! Abnormal lung morphology created_by: peter creation_date: 2008-03-29T03:17:00Z [Term] id: HP:0006704 name: Abnormal coronary artery morphology def: "Any structural abnormality of the coronary arteries." [HPO:probinson] xref: Fyler:3100 xref: SNOMEDCT_US:28574005 xref: UMLS:C0158623 is_a: HP:0011004 ! Abnormal systemic arterial morphology created_by: peter creation_date: 2008-03-29T03:33:00Z [Term] id: HP:0006705 name: Abnormal atrioventricular valve morphology alt_id: HP:0006675 def: "An abnormality of an atrioventricular valve." [HPO:probinson] synonym: "Abnormality of the atrioventricular valves" EXACT [] xref: UMLS:C4024995 is_a: HP:0001654 ! Abnormal heart valve morphology created_by: peter creation_date: 2008-03-29T03:34:00Z [Term] id: HP:0006706 name: Cystic liver disease xref: MSH:C536330 xref: SNOMEDCT_US:72925005 xref: UMLS:C0158683 is_a: HP:0410042 ! Abnormal liver morphology created_by: peter creation_date: 2008-03-29T03:37:00Z [Term] id: HP:0006707 name: Abnormality of the hepatic vasculature def: "An abnormality of the hepatic vasculature." [HPO:probinson] synonym: "Abnormality of liver blood vessels" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the liver vasculature" EXACT [] xref: UMLS:C4024994 is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0410042 ! Abnormal liver morphology created_by: peter creation_date: 2008-03-29T03:41:00Z [Term] id: HP:0006709 name: Aplasia/Hypoplasia of the nipples alt_id: HP:0006602 alt_id: HP:0006669 synonym: "Absent/rudimentary nipples" EXACT [] synonym: "Absent/small nipples" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped nipples" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Nipples absent or rudimentary" EXACT [] xref: UMLS:C3150086 is_a: HP:0004404 ! Abnormal nipple morphology created_by: peter creation_date: 2008-03-29T03:51:00Z [Term] id: HP:0006710 name: Aplasia/Hypoplasia of the clavicles def: "Absence or underdevelopment of the clavicles (collar bones)." [HPO:curators] synonym: "Absent/small collarbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped collarbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024993 is_a: HP:0000889 ! Abnormality of the clavicle is_a: HP:0006711 ! Aplasia/Hypoplasia involving bones of the thorax created_by: peter creation_date: 2008-03-29T03:53:00Z [Term] id: HP:0006711 name: Aplasia/Hypoplasia involving bones of the thorax synonym: "Absent/small outermost thorax bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped thorax bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024992 is_a: HP:0000765 ! Abnormality of the thorax is_a: HP:0009122 ! Aplasia/hypoplasia affecting bones of the axial skeleton created_by: peter creation_date: 2008-03-29T03:53:00Z [Term] id: HP:0006712 name: Aplasia/Hypoplasia of the ribs alt_id: HP:0006636 synonym: "Absent/small ribs" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped ribs" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hypoplastic or missing ribs" EXACT [] xref: UMLS:C1847363 is_a: HP:0000772 ! Abnormality of the ribs is_a: HP:0006711 ! Aplasia/Hypoplasia involving bones of the thorax created_by: peter creation_date: 2008-03-29T03:54:00Z [Term] id: HP:0006713 name: Aplasia/Hypoplasia of the scapulae synonym: "Absent/small shoulder blade" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped shoulder blade" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024991 is_a: HP:0000782 ! Abnormality of the scapula is_a: HP:0006711 ! Aplasia/Hypoplasia involving bones of the thorax created_by: peter creation_date: 2008-03-29T03:58:00Z [Term] id: HP:0006714 name: Aplasia/Hypoplasia of the sternum synonym: "Absent/small sternum" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped sternum" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024990 is_a: HP:0000766 ! Abnormality of the sternum is_a: HP:0006711 ! Aplasia/Hypoplasia involving bones of the thorax created_by: peter creation_date: 2008-03-29T04:01:00Z [Term] id: HP:0006715 name: Glomus tympanicum paraganglioma alt_id: HP:0002892 synonym: "Tympanic nerve tumor" EXACT [] synonym: "Tympanic nerve tumors" EXACT [] xref: UMLS:C1866555 is_a: HP:0002864 ! Paraganglioma of head and neck [Term] id: HP:0006716 name: Hereditary nonpolyposis colorectal carcinoma xref: UMLS:C4024989 is_a: HP:0002672 ! Gastrointestinal carcinoma is_a: HP:0100834 ! Neoplasm of the large intestine [Term] id: HP:0006717 name: Peripheral neuroepithelioma xref: SNOMEDCT_US:254764001 xref: UMLS:C3489398 is_a: HP:0100007 ! Neoplasm of the peripheral nervous system [Term] id: HP:0006719 name: Benign gastrointestinal tract tumors synonym: "Benign GI tract tumors" EXACT HP:0045077 [] synonym: "Non-cancerous GI tumors" EXACT layperson [ORCID:0000-0001-9114-8737] xref: SNOMEDCT_US:92118007 xref: UMLS:C0497538 is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract [Term] id: HP:0006721 name: Acute lymphoblastic leukemia alt_id: HP:0004803 alt_id: HP:0005555 def: "A form of acute leukemia characterized by excess lympoblasts." [HPO:probinson] synonym: "Acute lymphatic leukemia" EXACT [] synonym: "Acute lymphocytic leukemia" EXACT [] synonym: "Acute lymphoid leukemia" EXACT [] xref: SNOMEDCT_US:128822004 xref: SNOMEDCT_US:91857003 xref: UMLS:C0023449 is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0006722 name: Small intestine carcinoid xref: UMLS:C1868072 is_a: HP:0100570 ! Carcinoid tumor is_a: HP:0100833 ! Neoplasm of the small intestine [Term] id: HP:0006723 name: Intestinal carcinoid xref: UMLS:C4024988 is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract is_a: HP:0100570 ! Carcinoid tumor [Term] id: HP:0006725 name: Pancreatic adenocarcinoma def: "The presence of an adenocarcinoma of the pancreas." [HPO:probinson] xref: NCIT:C2852 xref: SNOMEDCT_US:700423003 xref: UMLS:C0281361 is_a: HP:0002894 ! Neoplasm of the pancreas [Term] id: HP:0006727 name: T-cell acute lymphoblastic leukemias def: "Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females." [NCIT:C3183] xref: MSH:D054218 xref: SNOMEDCT_US:128824003 xref: SNOMEDCT_US:277575008 xref: UMLS:C1961099 is_a: HP:0006721 ! Acute lymphoblastic leukemia [Term] id: HP:0006729 name: Retroperitoneal chemodectomas xref: NCIT:C3308 xref: UMLS:C4024987 is_a: HP:0011793 ! Neoplasm by anatomical site [Term] id: HP:0006731 name: Follicular thyroid carcinoma def: "The presence of an follicular adenocarcinoma of the thyroid gland." [HPO:probinson] xref: MSH:D018263 xref: NCIT:C8054 xref: SNOMEDCT_US:255028004 xref: SNOMEDCT_US:28173006 xref: SNOMEDCT_US:5257006 xref: UMLS:C0206682 is_a: HP:0002890 ! Thyroid carcinoma [Term] id: HP:0006732 name: Papillary renal cell carcinoma type 2 def: "A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification." [DDD:rscott, pmid:12429790] comment: Papillary renal cell carcinoma type 2 is a common feature of hereditary leiomyomatosis and renal cell cancer; HLRCC (OMIM 150800). xref: UMLS:C1336840 is_a: HP:0006766 ! Papillary renal cell carcinoma [Term] id: HP:0006733 name: Acute megakaryocytic leukemia def: "A rare subtype of acute myeloid leukemia evolving from primitive megakaryoblasts." [] synonym: "AMegL" EXACT HP:0045077 [] xref: MSH:D015470 xref: SNOMEDCT_US:17788007 xref: SNOMEDCT_US:413443009 xref: SNOMEDCT_US:91861009 xref: UMLS:C0023467 is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0006735 name: Renal cortical adenoma def: "The presence of an adenoma in the cortex of the kidney." [HPO:probinson] synonym: "Kidney cortical adenoma" EXACT [ORCID:0000-0001-5208-3432] xref: NCIT:C2855 xref: SNOMEDCT_US:254919009 xref: UMLS:C0346253 is_a: HP:0009726 ! Renal neoplasm [Term] id: HP:0006737 name: Extraadrenal pheochromocytoma alt_id: HP:0006764 def: "Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia." [HPO:probinson] synonym: "Pheochromocytoma, extraadrenal" EXACT [] xref: MSH:D010673 xref: UMLS:C1257877 is_a: HP:0002666 ! Pheochromocytoma [Term] id: HP:0006739 name: Squamous cell carcinoma of the skin alt_id: HP:0007614 def: "Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium." [HPO:curators] synonym: "Squamous skin carcinoma" EXACT [] xref: SNOMEDCT_US:254651007 xref: UMLS:C0553723 is_a: HP:0002860 ! Squamous cell carcinoma [Term] id: HP:0006740 name: Transitional cell carcinoma of the bladder def: "The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell." [HPO:probinson] synonym: "Transitional cell bladder carcinoma" EXACT [] xref: NCIT:C2930 xref: SNOMEDCT_US:255109008 xref: UMLS:C0279680 is_a: HP:0002862 ! Bladder carcinoma [Term] id: HP:0006742 name: Congenital neuroblastoma xref: UMLS:C4024986 is_a: HP:0003006 ! Neuroblastoma [Term] id: HP:0006743 name: Embryonal rhabdomyosarcoma xref: MSH:D018233 xref: NCIT:C8971 xref: SNOMEDCT_US:14269005 xref: SNOMEDCT_US:404051002 xref: UMLS:C0206656 is_a: HP:0002859 ! Rhabdomyosarcoma is_a: HP:0002898 ! Embryonal neoplasm [Term] id: HP:0006744 name: Adrenocortical carcinoma alt_id: HP:0002889 alt_id: HP:0006759 def: "A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone." [HPO:probinson] synonym: "Adrenal carcinoma" EXACT [] synonym: "Adrenal gland carinoma" EXACT [] xref: MSH:D018268 xref: NCIT:C2916 xref: SNOMEDCT_US:2227007 xref: SNOMEDCT_US:255035007 xref: UMLS:C0206686 is_a: HP:0100641 ! Neoplasm of the adrenal cortex [Term] id: HP:0006747 name: Ganglioneuroblastoma xref: MSH:D018305 xref: SNOMEDCT_US:116381000119105 xref: SNOMEDCT_US:69515008 xref: UMLS:C0206718 is_a: HP:0003006 ! Neuroblastoma [Term] id: HP:0006748 name: Adrenal pheochromocytoma alt_id: HP:0006752 def: "Pheochromocytoma originating from the adrenal medulla." [HPO:curators] synonym: "Pheochromocytoma, adrenal" EXACT [] synonym: "Pheochromocytomas, adrenal" EXACT [] xref: MSH:D010673 xref: NCIT:C3326 xref: SNOMEDCT_US:302835009 xref: SNOMEDCT_US:399343007 xref: SNOMEDCT_US:85583005 xref: UMLS:C0031511 is_a: HP:0002666 ! Pheochromocytoma is_a: HP:0100642 ! Neoplasm of the adrenal medulla [Term] id: HP:0006749 name: Malignant gastrointestinal tract tumors synonym: "Malignant GI tract tumors" EXACT HP:0045077 [ORCID:0000-0001-5208-3432] xref: MSH:D005770 xref: SNOMEDCT_US:428905002 xref: UMLS:C0685938 is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract [Term] id: HP:0006751 name: Paraspinal neurofibromas xref: UMLS:C4024985 is_a: HP:0001067 ! Neurofibromas [Term] id: HP:0006753 name: Neoplasm of the stomach def: "A tumor (abnormal growth of tissue) of the stomach." [HPO:probinson] synonym: "Increased gastric cancer" RELATED [] synonym: "Neoplasia of the stomach" RELATED [] synonym: "Stomach tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D013274 xref: NCIT:C3262 xref: SNOMEDCT_US:126824007 xref: UMLS:C0038356 xref: UMLS:C4020813 is_a: HP:0002577 ! Abnormality of the stomach is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract [Term] id: HP:0006755 name: Cutaneous leiomyosarcoma def: "The presence of leiomyosarcoma of the skin." [HPO:probinson] xref: NCIT:C3158 xref: SNOMEDCT_US:254771006 xref: UMLS:C0346067 is_a: HP:0008069 ! Neoplasm of the skin is_a: HP:0100243 ! Leiomyosarcoma [Term] id: HP:0006756 name: Diffuse leiomyomatosis xref: UMLS:C4024984 is_a: HP:0031459 ! Soft tissue neoplasm [Term] id: HP:0006758 name: Malignant genitourinary tract tumor def: "The presence of a malignant neoplasm of the genital system." [HPO:probinson] synonym: "Malignant GU tract tumor" EXACT HP:0045077 [] xref: UMLS:C1834728 is_a: HP:0007379 ! Neoplasm of the genitourinary tract [Term] id: HP:0006762 name: Renal pelvic carcinoma def: "The presence of a carcinoma in the renal pelvis." [HPO:probinson] xref: NCIT:C2916 xref: UMLS:C4024983 is_a: HP:0009726 ! Renal neoplasm [Term] id: HP:0006763 name: Anal canal squamous carcinoma xref: UMLS:C4024982 is_a: HP:0030437 ! Anal canal neoplasm [Term] id: HP:0006765 name: Chondrosarcoma def: "A slowly growing malignant neoplasm derived from cartilage cells." [HPO:probinson] xref: MSH:D002813 xref: NCIT:C2946 xref: SNOMEDCT_US:14990007 xref: SNOMEDCT_US:443520009 xref: UMLS:C0008479 is_a: HP:0010622 ! Neoplasm of the skeletal system is_a: HP:0100242 ! Sarcoma [Term] id: HP:0006766 name: Papillary renal cell carcinoma alt_id: HP:0006776 def: "The presence of renal cell carcinoma in the renal papilla." [HPO:probinson] xref: MSH:D002292 xref: NCIT:C2916 xref: UMLS:C1306837 is_a: HP:0005584 ! Renal cell carcinoma [Term] id: HP:0006767 name: Pituitary prolactin cell adenoma def: "A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women." [DDD:spark] synonym: "Pituitary prolactinoma" EXACT [] synonym: "Prolactin-secreting pituitary adenoma" EXACT [] xref: MSH:D015175 xref: SNOMEDCT_US:134209002 xref: SNOMEDCT_US:34337008 xref: UMLS:C0033375 is_a: HP:0002893 ! Pituitary adenoma [Term] id: HP:0006768 name: Localized neuroblastoma xref: UMLS:C4024981 is_a: HP:0003006 ! Neuroblastoma [Term] id: HP:0006769 name: Myxoid subcutaneous tumors xref: UMLS:C1834421 is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0006770 name: Clear cell renal cell carcinoma def: "A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron." [DDD:rscott] synonym: "Nonpapillary renal cell carcinoma" EXACT [] xref: MSH:D002292 xref: SNOMEDCT_US:188251003 xref: SNOMEDCT_US:254915003 xref: SNOMEDCT_US:41607009 xref: UMLS:C0279702 is_a: HP:0005584 ! Renal cell carcinoma [Term] id: HP:0006771 name: Duodenal adenocarcinoma def: "A malignant epithelial tumor with a glandular organization that originates in the duodenum." [HPO:probinson] synonym: "Duodenal cancer" RELATED [ORCID:0000-0001-6908-9849] xref: MSH:D004379 xref: NCIT:C2852 xref: SNOMEDCT_US:254570009 xref: SNOMEDCT_US:408644002 xref: UMLS:C0278804 xref: UMLS:C0541912 is_a: HP:0040274 ! Adenocarcinoma of the small intestine [Term] id: HP:0006772 name: Renal angiomyolipoma alt_id: HP:0100873 def: "A benign renal neoplasm composed of fat, vascular, and smooth muscle elements." [HPO:probinson] comment: Angiomyolipoma is a benign renal neoplasm composed of fat, vascular, and smooth muscle elements. synonym: "Angiomyolipoma" EXACT [] synonym: "Kidney angiomyolipoma" EXACT [ORCID:0000-0001-6908-9849] xref: NCIT:C3734 xref: SNOMEDCT_US:254921004 xref: UMLS:C0241961 is_a: HP:0008696 ! Renal hamartoma [Term] id: HP:0006773 name: Cutaneous angiolipomas xref: NCIT:C3733 xref: UMLS:C4024980 is_a: HP:0001012 ! Multiple lipomas is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0006774 name: Ovarian papillary adenocarcinoma def: "The presence of a papillary adenocarcinoma of the ovary." [HPO:probinson] xref: NCIT:C2853 xref: UMLS:C4024979 is_a: HP:0100615 ! Ovarian neoplasm [Term] id: HP:0006775 name: Multiple myeloma def: "A malignant plasma cell tumor growing within soft tissue or within the skeleton." [HPO:sdoelken] synonym: "Kahler's disease" RELATED [ORCID:0000-0001-6908-9849] synonym: "Plasmocytoma" RELATED [] xref: MSH:D009101 xref: MSH:D010954 xref: SNOMEDCT_US:10639003 xref: SNOMEDCT_US:109989006 xref: SNOMEDCT_US:415112005 xref: SNOMEDCT_US:55921005 xref: UMLS:C0026764 xref: UMLS:C0032131 is_a: HP:0004377 ! Hematological neoplasm [Term] id: HP:0006778 name: Benign genitourinary tract neoplasm def: "A non-malignant neoplasm of the genitourinary system." [HPO:probinson] synonym: "Benign genitourinary tract tumor" EXACT [] synonym: "Benign GU tract neoplasm" EXACT HP:0045077 [] xref: UMLS:C3804991 is_a: HP:0007379 ! Neoplasm of the genitourinary tract [Term] id: HP:0006779 name: Alveolar rhabdomyosarcoma xref: MSH:D018232 xref: NCIT:C3749 xref: SNOMEDCT_US:404053004 xref: SNOMEDCT_US:63449009 xref: UMLS:C0206655 is_a: HP:0002859 ! Rhabdomyosarcoma [Term] id: HP:0006780 name: Parathyroid carcinoma def: "A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism." [HPO:probinson] synonym: "Parathyroid Cancer" EXACT [] xref: MSH:D010282 xref: NCIT:C2916 xref: SNOMEDCT_US:255037004 xref: SNOMEDCT_US:363481002 xref: UMLS:C0687150 is_a: HP:0100733 ! Neoplasm of the parathyroid gland [Term] id: HP:0006781 name: Hurthle cell thyroid adenoma def: "A kind of thyroid adenoma characterized by the presence of oxyphil cells." [HPO:probinson] comment: Oxyphil cells of thyroid, defined by the Cell Ontology as oncocytes located in the thyroid, are also known as Hurthle cells. xref: UMLS:C1336750 is_a: HP:0000854 ! Thyroid adenoma [Term] id: HP:0006782 name: Malignant eosinophil proliferation xref: MSH:C565054 xref: UMLS:C1851585 is_a: HP:0004377 ! Hematological neoplasm [Term] id: HP:0006783 name: Posterior pharyngeal cleft xref: UMLS:C1848389 is_a: HP:0000600 ! Abnormality of the pharynx [Term] id: HP:0006784 name: Paranasal sinus hypoplasia def: "Underdevelopment of the paranasal sinuses." [HPO:probinson] synonym: "Atelectasis of paranasal sinus" RELATED [ORCID:0000-0001-5889-4463] synonym: "Decreased growth of paranasal sinus" NARROW [ORCID:0000-0001-5889-4463] synonym: "Decreased pneumatization of paranasal sinus" NARROW [ORCID:0000-0001-5889-4463] synonym: "Decreased size of paranasal sinus" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased volume of paranasal sinus" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypotrophic paranasal sinus" RELATED [ORCID:0000-0001-5889-4463] synonym: "Small paranasal sinus" BROAD [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of paranasal sinus" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C2749161 xref: UMLS:C4280256 xref: UMLS:C4280441 xref: UMLS:C4280442 is_a: HP:0005453 ! Absent/hypoplastic paranasal sinuses [Term] id: HP:0006785 name: Limb-girdle muscular dystrophy alt_id: HP:0009066 def: "Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders)." [HPO:curators] synonym: "limb girdle muscular dystrophy" EXACT [] xref: MSH:D049288 xref: SNOMEDCT_US:93153005 xref: UMLS:C0686353 is_a: HP:0003560 ! Muscular dystrophy is_a: HP:0003797 ! Limb-girdle muscle atrophy [Term] id: HP:0006789 name: Mitochondrial encephalopathy xref: MSH:C538525 xref: UMLS:C1852373 is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0006790 name: Cerebral cortex with spongiform changes xref: UMLS:C1857934 is_a: HP:0002538 ! Abnormality of the cerebral cortex [Term] id: HP:0006794 name: Loss of ability to walk in first decade synonym: "Loss of ability to walk in first decade" EXACT layperson [] xref: UMLS:C1846133 is_a: HP:0002505 ! Progressive inability to walk [Term] id: HP:0006799 name: Basal ganglia cysts alt_id: HP:0007244 synonym: "Cystic lesions in the basal ganglia" EXACT [] xref: UMLS:C1837251 is_a: HP:0002134 ! Abnormality of the basal ganglia is_a: HP:0010576 ! Intracranial cystic lesion [Term] id: HP:0006801 name: Hyperactive deep tendon reflexes alt_id: HP:0007259 synonym: "Brisk deep tendon reflexes" EXACT [] xref: UMLS:C1846176 is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0006802 name: Abnormal anterior horn cell morphology def: "Any anomaly of the anterior horn cell." [HPO:probinson] comment: Anterior horn cells are efferent neurons that passes from the central nervous system or a ganglion toward or to a muscle. They conduct nerve impulses that lead to movement of muscles. synonym: "Abnormality of the anterior horn cell" BROAD [] synonym: "Abnormality of the anterior horn cells" EXACT [] synonym: "Anomaly of the anterior horn cells" EXACT [] synonym: "Anterior horn cell disease" EXACT [] xref: MSH:D016472 xref: SNOMEDCT_US:85672005 xref: UMLS:C0154681 xref: UMLS:C4020812 is_a: HP:0000759 ! Abnormal peripheral nervous system morphology is_a: HP:0002450 ! Abnormal motor neuron morphology [Term] id: HP:0006803 name: Vivid hallucinations xref: UMLS:C4024978 is_a: HP:0000738 ! Hallucinations [Term] id: HP:0006808 name: Cerebral hypomyelination def: "Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system." [HPO:probinson] synonym: "Hypomyelination of the brain" EXACT [] xref: UMLS:C2677328 is_a: HP:0003429 ! CNS hypomyelination [Term] id: HP:0006812 name: White mater abnormalities in the posterior periventricular region xref: UMLS:C1836525 is_a: HP:0002500 ! Abnormality of the cerebral white matter created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0006813 name: Hemiclonic seizures synonym: "Unilateral clonic seizures" EXACT [] xref: UMLS:C1846620 is_a: HP:0002266 ! Focal clonic seizures [Term] id: HP:0006817 name: Aplasia/Hypoplasia of the cerebellar vermis alt_id: HP:0005690 alt_id: HP:0007080 def: "Absence or underdevelopment of the vermis of cerebellum." [HPO:curators] synonym: "Cerebellar vermis aplasia or hypoplasia" RELATED [HPO:skoehler] synonym: "Cerebellar vermis aplasia/hypoplasia" EXACT [] synonym: "Hypo/aplastic vermis" EXACT [] xref: UMLS:C1855676 xref: UMLS:C3280770 is_a: HP:0002334 ! Abnormality of the cerebellar vermis [Term] id: HP:0006818 name: 4-layered lissencephaly def: "A form of lissencephaly in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development. At neuropathological examination, a 4-layered cortex consists of an upper molecular layer, a second thin cellular layer containing pyramidal neurons usually observed in layer V, a third pale poorly cellular layer and a fourth thick deep layer made up of neurons which had failed to migrate. Radiologocally would manifest as agyria or pachygyria with cortical thickness greater than 10 mm." [COST:neuromig, HPO:probinson, PMID:28440899] synonym: "Classic lissencephaly" EXACT [ORCID:0000-0001-6908-9849] synonym: "Four-layered lissencephaly" EXACT [] synonym: "Lissencephaly, type I" EXACT [] synonym: "Type 1 lissencephaly" EXACT [] synonym: "Type I lissencephaly" EXACT [] xref: MSH:D054221 xref: SNOMEDCT_US:253147000 xref: UMLS:C0431375 is_a: HP:0001339 ! Lissencephaly [Term] id: HP:0006821 name: Frontal polymicrogyria def: "A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum." [COST:neuromig, PMID:20301504] synonym: "Polymicrogyria, anterior to posterior gradient" EXACT [] xref: UMLS:C1847356 is_a: HP:0002126 ! Polymicrogyria [Term] id: HP:0006824 name: Cranial nerve paralysis alt_id: HP:0001353 alt_id: HP:0002377 synonym: "Cranial nerve palsies" EXACT [] synonym: "Cranial nerve palsy" EXACT [] synonym: "Cranial nerve paresis" EXACT [] xref: MSH:D003389 xref: SNOMEDCT_US:73013002 xref: UMLS:C0151311 xref: UMLS:C4025709 is_a: HP:0031910 ! Abnormal cranial nerve physiology [Term] id: HP:0006825 name: Pallor of dorsal columns of the spinal cord xref: UMLS:C1865416 is_a: HP:0011397 ! Abnormality of the dorsal column of the spinal cord [Term] id: HP:0006827 name: Atrophy of the spinal cord synonym: "Degeneration of the spinal cord" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1389102 is_a: HP:0007344 ! Atrophy/Degeneration involving the spinal cord [Term] id: HP:0006829 name: Severe muscular hypotonia alt_id: HP:0002347 def: "A severe degree of muscular hypotonia characterized by markedly reduced muscle tone." [HPO:curators] synonym: "Hypotonia, severe" EXACT [] synonym: "Severely decreased muscle tone" EXACT layperson [ORCID:0000-0002-6548-5200] xref: UMLS:C1839630 is_a: HP:0001252 ! Muscular hypotonia [Term] id: HP:0006830 name: obsolete Severe neonatal hypotonia in males is_obsolete: true consider: HP:0001319 [Term] id: HP:0006834 name: Developmental stagnation at onset of seizures def: "A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy." [HPO:probinson] xref: UMLS:C1836829 is_a: HP:0007281 ! Developmental stagnation [Term] id: HP:0006837 name: Congenital Horner syndrome def: "A type of Horner syndrome with congenital onset." [HPO:probinson] xref: MSH:C564178 xref: UMLS:C1840475 is_a: HP:0002277 ! Horner syndrome [Term] id: HP:0006844 name: Absent patellar reflexes def: "Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella." [HPO:probinson] synonym: "Absent knee jerk reflex" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:274817009 xref: UMLS:C0558844 is_a: HP:0002522 ! Areflexia of lower limbs [Term] id: HP:0006846 name: Acute encephalopathy xref: SNOMEDCT_US:2776000 xref: UMLS:C1306587 is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0006849 name: Hypodysplasia of the corpus callosum xref: UMLS:C1850348 is_a: HP:0002079 ! Hypoplasia of the corpus callosum [Term] id: HP:0006850 name: Hypoplasia of the ventral pons def: "Underdevelopment of the ventral portion of the pons." [HPO:probinson] synonym: "Underdeveloped ventral pons" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C1843507 is_a: HP:0007361 ! Abnormality of the pons [Term] id: HP:0006851 name: Symmetric spinal nerve root neurofibromas def: "Multiple neurofibromas of the spinal nerve roots with a symmetric distribution." [HPO:probinson] synonym: "Spinal nerve root neurofibromas, symmetric, multiple" EXACT [] xref: UMLS:C1834236 is_a: HP:0009735 ! Spinal neurofibromas [Term] id: HP:0006852 name: Episodic generalized hypotonia def: "The occurrence of repeated episodes of generalized muscular hypotonia." [HPO:curators] xref: UMLS:C4024976 is_a: HP:0001290 ! Generalized hypotonia [Term] id: HP:0006855 name: Cerebellar vermis atrophy alt_id: HP:0007121 alt_id: HP:0007312 def: "Wasting (atrophy) of the vermis of cerebellum." [HPO:probinson] comment: This sign can be visualized with brain MRI. synonym: "Atrophy of cerebellar vermis" EXACT [] synonym: "Atrophy of the cerebellar vermis" EXACT [] xref: UMLS:C0742028 is_a: HP:0002334 ! Abnormality of the cerebellar vermis [Term] id: HP:0006858 name: Impaired distal proprioception alt_id: HP:0007056 alt_id: HP:0007148 def: "A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints." [HPO:probinson] synonym: "Distal sensory loss of proprioception" EXACT [] xref: UMLS:C4021585 is_a: HP:0002936 ! Distal sensory impairment is_a: HP:0010831 ! Impaired proprioception [Term] id: HP:0006859 name: Posterior leukoencephalopathy xref: UMLS:C4024975 is_a: HP:0002352 ! Leukoencephalopathy [Term] id: HP:0006863 name: Severe expressive language delay def: "A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts." [DDD:hvfirth] xref: SNOMEDCT_US:62221000119105 xref: UMLS:C1851085 is_a: HP:0002474 ! Expressive language delay [Term] id: HP:0006865 name: Sensorimotor polyneuropathy affecting arms more than legs xref: UMLS:C4024974 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0006866 name: Midline central nervous system lipomas synonym: "Midline CNS lipomas" EXACT HP:0045077 [] xref: UMLS:C4024973 is_a: HP:0100251 ! Multiple central nervous system lipomas [Term] id: HP:0006870 name: Lobar holoprosencephaly def: "A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally." [gc:hpe] xref: MSH:D016142 xref: SNOMEDCT_US:253136007 xref: UMLS:C0431362 is_a: HP:0001360 ! Holoprosencephaly [Term] id: HP:0006872 name: Cerebral hypoplasia alt_id: HP:0001322 def: "Underdevelopment of the cerebrum." [HPO:probinson] synonym: "Small cerebrum" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Underdeveloped cerebrum" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1855330 is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum [Term] id: HP:0006873 name: Symmetrical progressive peripheral demyelination def: "A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system." [HPO:probinson] xref: UMLS:C4024972 is_a: HP:0007262 ! Symmetric peripheral demyelination [Term] id: HP:0006877 name: obsolete Mental retardation, in some is_obsolete: true replaced_by: HP:0001249 [Term] id: HP:0006879 name: Pontocerebellar atrophy def: "Atrophy affecting the pons and the cerebellum." [HPO:probinson] xref: UMLS:C1853766 is_a: HP:0001272 ! Cerebellar atrophy [Term] id: HP:0006880 name: Cerebellar hemangioblastoma alt_id: HP:0006761 def: "A 'hemangioblastoma of the cerebellum." [HPO:probinson] synonym: "Hemangioblastoma, sporadic cerebellar" EXACT [] xref: NCIT:C3801 xref: UMLS:C1332900 is_a: HP:0001317 ! Abnormal cerebellum morphology is_a: HP:0010797 ! Hemangioblastoma [Term] id: HP:0006881 name: Diffuse peripheral demyelination def: "A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system." [HPO:probinson] xref: UMLS:C4024971 is_a: HP:0011096 ! Peripheral demyelination [Term] id: HP:0006882 name: Severe hydrocephalus xref: UMLS:C3278123 is_a: HP:0000238 ! Hydrocephalus [Term] id: HP:0006886 name: Impaired distal vibration sensation def: "A decrease in the ability to perceive vibration in the distal portions of the limbs." [HPO:probinson] synonym: "Decreased distal vibration sense" EXACT [] xref: UMLS:C1853767 is_a: HP:0002495 ! Impaired vibratory sensation [Term] id: HP:0006887 name: Intellectual disability, progressive alt_id: HP:0001261 alt_id: HP:0006924 alt_id: HP:0007025 alt_id: HP:0007044 alt_id: HP:0007243 def: "The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time." [HPO:probinson] synonym: "Intellectual disability, progressive" EXACT layperson [] synonym: "Mental retardation, progressive" EXACT layperson [] synonym: "Progressive mental retardation" EXACT layperson [] xref: UMLS:C1846149 is_a: HP:0001249 ! Intellectual disability [Term] id: HP:0006888 name: Meningoencephalocele xref: SNOMEDCT_US:52330001 xref: UMLS:C0266456 is_a: HP:0002084 ! Encephalocele [Term] id: HP:0006889 name: Intellectual disability, borderline def: "Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85." [HPO:probinson, PMID:20537050] comment: We choose to define the concept of borderline intellectual disability onthe basis of the commonly used range of 70-85 (IQ), but note that in DSM-5, IQ boundaries are no longer part of the classification. synonym: "Intellectual disability, borderline" EXACT layperson [] synonym: "Mental retardation, borderline" EXACT layperson [] xref: SNOMEDCT_US:77287004 xref: UMLS:C0006009 is_a: HP:0001249 ! Intellectual disability [Term] id: HP:0006891 name: Thick cerebral cortex xref: UMLS:C4024970 is_a: HP:0002538 ! Abnormality of the cerebral cortex [Term] id: HP:0006892 name: Frontotemporal cerebral atrophy def: "Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum." [HPO:probinson] synonym: "Cerebral atrophy, frontotemporal" EXACT [] xref: UMLS:C4021584 is_a: HP:0002059 ! Cerebral atrophy [Term] id: HP:0006893 name: Severely dysplastic cerebellum xref: UMLS:C4024969 is_a: HP:0007033 ! Cerebellar dysplasia [Term] id: HP:0006894 name: Hypoplastic olfactory lobes xref: UMLS:C1859231 is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system is_a: HP:0025057 ! Abnormality of olfactory lobe morphology [Term] id: HP:0006895 name: Lower limb hypertonia xref: UMLS:C1845245 is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs is_a: HP:0002509 ! Limb hypertonia [Term] id: HP:0006896 name: Hypnopompic hallucinations xref: MSH:D006212 xref: SNOMEDCT_US:69690008 xref: UMLS:C0424082 is_a: HP:0000738 ! Hallucinations [Term] id: HP:0006897 name: Cranial nerve VI palsy synonym: "Abducens nerve palsy" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Abducens nerve paralysis" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Abducens nerve paresis" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Lateral rectus muscle denervation paresis" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] xref: MSH:C564661 xref: MSH:D020434 xref: SNOMEDCT_US:398760006 xref: SNOMEDCT_US:398925009 xref: SNOMEDCT_US:398963001 xref: UMLS:C0271355 is_a: HP:0006824 ! Cranial nerve paralysis [Term] id: HP:0006899 name: Fusion of the cerebellar hemispheres xref: UMLS:C1866131 is_a: HP:0001317 ! Abnormal cerebellum morphology [Term] id: HP:0006901 name: Impaired thermal sensitivity xref: UMLS:C4024968 is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0006903 name: Congenital peripheral neuropathy xref: UMLS:C4024967 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0006904 name: Late-onset spinocerebellar degeneration xref: UMLS:C1856604 is_a: HP:0002503 ! Spinocerebellar tract degeneration [Term] id: HP:0006906 name: Congenital intracerebral calcification def: "The presence of calcium deposition within brain structures that is present already at the time of birth." [HPO:probinson] xref: UMLS:C4024966 is_a: HP:0002514 ! Cerebral calcification [Term] id: HP:0006913 name: Frontal cortical atrophy def: "Atrophy of the frontal cortex." [HPO:probinson] synonym: "Frontal cortex degeneration" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4024965 is_a: HP:0002120 ! Cerebral cortical atrophy [Term] id: HP:0006915 name: Inability to walk by childhood/adolescence synonym: "Inability to walk by childhood/adolescence" EXACT layperson [] xref: UMLS:C1859200 is_a: HP:0002505 ! Progressive inability to walk [Term] id: HP:0006916 name: Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material def: "Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons." [HPO:probinson] synonym: "Intraaxonal accumulation of curvilinear profiles" RELATED [] xref: UMLS:C1832339 xref: UMLS:C4024964 is_a: HP:0003205 ! Curvilinear intracellular accumulation of autofluorescent lipopigment storage material [Term] id: HP:0006918 name: Diffuse cerebral sclerosis xref: MSH:D002549 xref: SNOMEDCT_US:49692006 xref: UMLS:C0007795 is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0006919 name: Abnormal aggressive, impulsive or violent behavior synonym: "Aggressive/violent behavior" BROAD layperson [] xref: UMLS:C4024963 is_a: HP:0100851 ! Abnormal emotion/affect behavior [Term] id: HP:0006921 name: Axial muscle stiffness def: "Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature." [HPO:probinson] xref: UMLS:C4024962 is_a: HP:0003552 ! Muscle stiffness is_a: HP:0040286 ! Abnormality of axial muscles [Term] id: HP:0006926 name: Metachromatic leukodystrophy variant alt_id: HP:0007079 xref: UMLS:C4024961 is_a: HP:0002415 ! Leukodystrophy [Term] id: HP:0006927 name: Unilateral polymicrogyria def: "Excessive number of small gyri (convolutions) on the surface of one side of the brain." [HPO:probinson] xref: SNOMEDCT_US:715905006 xref: UMLS:C4024960 is_a: HP:0002126 ! Polymicrogyria [Term] id: HP:0006929 name: Hypoglycemic encephalopathy def: "Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage." [HPO:probinson] xref: SNOMEDCT_US:64624009 xref: UMLS:C0149877 is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0006930 name: Frontoparietal cortical dysplasia def: "The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe." [HPO:probinson] xref: UMLS:C4024959 is_a: HP:0002539 ! Cortical dysplasia [Term] id: HP:0006931 name: Lipoma of corpus callosum xref: UMLS:C1333160 is_a: HP:0001273 ! Abnormal corpus callosum morphology is_a: HP:0006866 ! Midline central nervous system lipomas [Term] id: HP:0006932 name: Transient psychotic episodes xref: UMLS:C4024958 is_a: HP:0000725 ! Psychotic episodes [Term] id: HP:0006934 name: Congenital nystagmus def: "Nystagmus dating from or present at birth." [HPO:curators] synonym: "Nystagmus, congenital" RELATED [HPO:skoehler] xref: MSH:D020417 xref: SNOMEDCT_US:64635004 xref: UMLS:C0700501 is_a: HP:0000639 ! Nystagmus [Term] id: HP:0006937 name: Impaired distal tactile sensation alt_id: HP:0006981 def: "A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus." [HPO:probinson] synonym: "Decreased distal touch sense" EXACT [] synonym: "Decreased touch sensation in extremities" EXACT layperson [orcid.org/0000-0002-6548-5200] xref: UMLS:C4021583 is_a: HP:0002936 ! Distal sensory impairment is_a: HP:0010830 ! Impaired tactile sensation [Term] id: HP:0006938 name: Impaired vibration sensation at ankles alt_id: HP:0007144 def: "A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles." [HPO:probinson] synonym: "Decreased vibration sense at ankles" EXACT layperson [] synonym: "Decreased vibration sense in feet" EXACT layperson [] synonym: "Impaired vibration sensation at ankles" EXACT layperson [] xref: UMLS:C1854372 is_a: HP:0002166 ! Impaired vibration sensation in the lower limbs is_a: HP:0006886 ! Impaired distal vibration sensation [Term] id: HP:0006943 name: Diffuse spongiform leukoencephalopathy xref: UMLS:C1858857 is_a: HP:0002352 ! Leukoencephalopathy [Term] id: HP:0006944 name: Abolished vibration sense def: "A complete loss of the ability to perceive vibration." [HPO:curators] xref: UMLS:C1837520 is_a: HP:0002495 ! Impaired vibratory sensation [Term] id: HP:0006946 name: Recurrent meningitis def: "An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis." [HPO:probinson] xref: UMLS:C0746495 is_a: HP:0011450 ! Unusual CNS infection [Term] id: HP:0006949 name: Episodic peripheral neuropathy xref: UMLS:C1848695 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0006951 name: Retrocerebellar cyst xref: UMLS:C1845370 is_a: HP:0002350 ! Cerebellar cyst [Term] id: HP:0006955 name: Olivopontocerebellar hypoplasia alt_id: HP:0007168 def: "Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus." [HPO:probinson] xref: UMLS:C1859341 is_a: HP:0001321 ! Cerebellar hypoplasia is_a: HP:0012110 ! Hypoplasia of the pons [Term] id: HP:0006956 name: Dilation of lateral ventricles alt_id: HP:0006796 alt_id: HP:0006945 alt_id: HP:0007173 synonym: "Dilatation of lateral cerebral ventricles" EXACT [] synonym: "Enlarged lateral ventricles" EXACT [] synonym: "Lateral ventricle dilatation" EXACT [] xref: UMLS:C1856409 is_a: HP:0002119 ! Ventriculomegaly is_a: HP:0030047 ! Abnormality of lateral ventricle [Term] id: HP:0006957 name: Loss of ability to walk synonym: "Loss of ability to walk" EXACT layperson [] xref: UMLS:C1849097 is_a: HP:0002505 ! Progressive inability to walk [Term] id: HP:0006958 name: Abnormal auditory evoked potentials alt_id: HP:0003151 alt_id: HP:0004462 alt_id: HP:0006923 def: "An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex." [HPO:probinson] comment: Auditory brainstem response audiometry typically uses a click stimulus that generates a response from the basilar region of the cochlea. synonym: "Abnormal brainstem auditory-evoked potentials" EXACT [] xref: SNOMEDCT_US:102971006 xref: UMLS:C0522216 is_a: HP:0030177 ! Abnormality of peripheral nervous system electrophysiology is_a: HP:0030178 ! Abnormality of central nervous system electrophysiology [Term] id: HP:0006959 name: Proximal spinal muscular atrophy def: "Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem." [HPO:curators] xref: UMLS:C4024957 is_a: HP:0007269 ! Spinal muscular atrophy [Term] id: HP:0006960 name: Choroid plexus calcification def: "The presence of calcium deposition in the choroid plexus." [HPO:probinson] synonym: "Calcified choroid plexus" EXACT [] xref: UMLS:C1863184 is_a: HP:0002514 ! Cerebral calcification is_a: HP:0007376 ! Abnormality of the choroid plexus [Term] id: HP:0006961 name: Jerky head movements synonym: "Head jerking" EXACT layperson [] synonym: "Jerking head movements" EXACT layperson [] xref: UMLS:C1855568 is_a: HP:0002457 ! Abnormal head movements [Term] id: HP:0006962 name: Gait instability, worse in the dark synonym: "Unstable walking, worse in the dark" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1837016 is_a: HP:0002317 ! Unsteady gait [Term] id: HP:0006964 name: Cerebral cortical neurodegeneration xref: UMLS:C1859863 is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum [Term] id: HP:0006965 name: Acute necrotizing encephalopathy xref: UMLS:C1855020 is_a: HP:0006846 ! Acute encephalopathy [Term] id: HP:0006970 name: Periventricular leukomalacia xref: MSH:D007969 xref: SNOMEDCT_US:230769007 xref: UMLS:C0023529 is_a: HP:0002518 ! Abnormality of the periventricular white matter [Term] id: HP:0006976 name: Necrotizing encephalopathy def: "A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue." [KI:phemming, pmid:23705127] comment: The disease acute necrotizing encephalopathy is characterized by acute onset encephalopathy with rapid, progressive neurologic deterioration, seizures and symmetric multifocal brain lesions. This term is kept for convenience. For new annotations, it is recommended that the specific phenotypic abnormalities be noted. xref: UMLS:C1396481 is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0006977 name: Grammar-specific speech disorder synonym: "Grammar-specific speech disorder" EXACT layperson [] xref: UMLS:C4024956 is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0006978 name: Dysmyelinating leukodystrophy xref: UMLS:C3278204 is_a: HP:0002415 ! Leukodystrophy [Term] id: HP:0006979 name: Sleep-wake cycle disturbance def: "Any abnormal alteration of an individual's circadian rhythm that affects the timing of sleeping and being awake." [] synonym: "Sleep-wake cycle disturbance" EXACT layperson [] xref: UMLS:C1833362 is_a: HP:0002360 ! Sleep disturbance [Term] id: HP:0006980 name: Progressive leukoencephalopathy def: "Leukoencephalopathy that gets more severe with time." [HPO:probinson] synonym: "Leukoencephalopathy, progressive" EXACT [] xref: UMLS:C1855010 is_a: HP:0002352 ! Leukoencephalopathy [Term] id: HP:0006983 name: Slowly progressive spastic quadriparesis xref: UMLS:C4024955 is_a: HP:0002478 ! Progressive spastic quadriplegia [Term] id: HP:0006984 name: Distal sensory loss of all modalities xref: UMLS:C1836527 is_a: HP:0003409 ! Distal sensory impairment of all modalities [Term] id: HP:0006986 name: Upper limb spasticity synonym: "Uncontrollable movement in upper arms" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:394680009 xref: UMLS:C1273957 is_a: HP:0001257 ! Spasticity [Term] id: HP:0006988 name: Alobar holoprosencephaly def: "A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged." [gc:hpe] xref: MSH:D016142 xref: SNOMEDCT_US:253137003 xref: UMLS:C0431363 is_a: HP:0001360 ! Holoprosencephaly [Term] id: HP:0006989 name: Dysplastic corpus callosum alt_id: HP:0006996 def: "Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium." [HPO:probinson, pmid:21263138] synonym: "Dysgenesis of corpus callosum" EXACT [] synonym: "Dysplasia of corpus callosum" EXACT [] xref: UMLS:C0431369 is_a: HP:0001273 ! Abnormal corpus callosum morphology [Term] id: HP:0006990 name: Myelin-dependent gliosis def: "A type of gliosis that occurs in the vicinity of injured neurons." [HPO:probinson] xref: UMLS:C4024954 is_a: HP:0002171 ! Gliosis [Term] id: HP:0006992 name: Anterior basal encephalocele xref: UMLS:C1850961 is_a: HP:0002084 ! Encephalocele [Term] id: HP:0006994 name: Diffuse leukoencephalopathy xref: UMLS:C1868514 is_a: HP:0002352 ! Leukoencephalopathy [Term] id: HP:0006999 name: Basal ganglia gliosis def: "Focal proliferation of glial cells in the basal ganglia." [HPO:probinson] comment: Gliosis refers to a proliferation of astrocytes in an area of damage of nervous tissue. synonym: "Gliosis in the basal ganglia" EXACT [] xref: UMLS:C1864114 xref: UMLS:C2750915 is_a: HP:0002134 ! Abnormality of the basal ganglia is_a: HP:0002171 ! Gliosis [Term] id: HP:0007000 name: Morning myoclonic jerks xref: UMLS:C1847164 is_a: HP:0001336 ! Myoclonus [Term] id: HP:0007001 name: Loss of Purkinje cells in the cerebellar vermis xref: UMLS:C1849146 is_a: HP:0002334 ! Abnormality of the cerebellar vermis [Term] id: HP:0007002 name: Motor axonal neuropathy alt_id: HP:0007349 def: "Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg." [HPO:probinson] comment: Distal motor neuropathy is a bundled term that should not be used if more detailed information about the phenotype is available. synonym: "Distal motor neuropathy" RELATED [] synonym: "Length dependent motor neuropathy" RELATED [] xref: UMLS:C1854570 xref: UMLS:C2749625 xref: UMLS:C4020811 is_a: HP:0003477 ! Peripheral axonal neuropathy [Term] id: HP:0007006 name: Dorsal column degeneration xref: UMLS:C4024953 is_a: HP:0011397 ! Abnormality of the dorsal column of the spinal cord [Term] id: HP:0007007 name: Cavitation of the basal ganglia alt_id: HP:0007246 def: "The formation of small cavities in the tissue of the basal ganglia." [HPO:probinson, pmid:8516046] comment: This feature can be observed in tissue upon autopsy or in magnetic resonance tomography (MRI) images. xref: UMLS:C4024952 is_a: HP:0002134 ! Abnormality of the basal ganglia [Term] id: HP:0007009 name: Central nervous system degeneration synonym: "CNS degeneration" EXACT HP:0045077 [] xref: UMLS:C3277687 is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system [Term] id: HP:0007010 name: Poor fine motor coordination def: "An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes." [] synonym: "Fine motor disability" EXACT [] synonym: "Fine motor impairment" EXACT [] synonym: "Fine motor skill dysfunction" EXACT [] synonym: "Impaired fine motor skills" EXACT [] xref: UMLS:C1867864 is_a: HP:0002275 ! Poor motor coordination [Term] id: HP:0007011 name: Fourth cranial nerve palsy def: "Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly." [ORCIRD:0000-0001-5208-3432] comment: The fourth cranial nerve crosses as it exits the midbrain dorsally and may be injured along its course through the intracranial space, cavernous sinus, superior orbital fissure, or orbit. synonym: "Trochlear nerve palsy" EXACT [] xref: MSH:D020432 xref: SNOMEDCT_US:20610004 xref: UMLS:C0271375 is_a: HP:0006824 ! Cranial nerve paralysis [Term] id: HP:0007015 name: Poor gross motor coordination def: "An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts." [] synonym: "Gross motor impairment" EXACT [] xref: UMLS:C1867863 is_a: HP:0002275 ! Poor motor coordination [Term] id: HP:0007016 name: Corticospinal tract hypoplasia xref: UMLS:C1844007 is_a: HP:0007365 ! Aplasia/Hypoplasia involving the corticospinal tracts [Term] id: HP:0007017 name: Progressive forgetfulness synonym: "Forgetfullness" BROAD layperson [] xref: UMLS:C3277688 is_a: HP:0002354 ! Memory impairment [Term] id: HP:0007018 name: Attention deficit hyperactivity disorder alt_id: HP:0001576 alt_id: HP:0001577 alt_id: HP:0006973 def: "Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient." [HPO:curators] synonym: "Attention deficit" EXACT layperson [] synonym: "Attention deficit disorder" EXACT layperson [] synonym: "Attention deficit-hyperactivity disorder" EXACT layperson [] synonym: "Attention deficits" EXACT layperson [] synonym: "Childhood attention deficit/hyperactivity disorder" EXACT layperson [] xref: MSH:D001289 xref: SNOMEDCT_US:406506008 xref: SNOMEDCT_US:7461003 xref: UMLS:C1263846 is_a: HP:0000736 ! Short attention span is_a: HP:0000752 ! Hyperactivity [Term] id: HP:0007020 name: Progressive spastic paraplegia alt_id: HP:0006875 alt_id: HP:0007255 xref: UMLS:C1855483 is_a: HP:0001258 ! Spastic paraplegia [Term] id: HP:0007021 name: Pain insensitivity alt_id: HP:0003404 def: "Inability to perceive painful stimuli." [HPO:probinson] comment: The word Anesthesia is occasionally used to refer to lack of pain sensation, although it is more usually used to denote a medical procedure design to relieve pain. synonym: "Absence of pain sensation" EXACT [] xref: SNOMEDCT_US:38433004 xref: UMLS:C0344307 is_a: HP:0007328 ! Impaired pain sensation [Term] id: HP:0007023 name: Antenatal intracerebral hemorrhage def: "Cerebral hemorrhage that occurs before birth." [HPO:probinson] xref: UMLS:C1837247 is_a: HP:0001342 ! Cerebral hemorrhage [Term] id: HP:0007024 name: Pseudobulbar paralysis alt_id: HP:0002201 alt_id: HP:0006819 def: "Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing." [HPO:sdoelken] synonym: "Pseudobulbar palsy" EXACT [] synonym: "Pseudobulbar syndrome" EXACT [] xref: MSH:D020828 xref: SNOMEDCT_US:7379000 xref: UMLS:C0033790 is_a: HP:0001260 ! Dysarthria is_a: HP:0001618 ! Dysphonia is_a: HP:0002015 ! Dysphagia is_a: HP:0002200 ! Pseudobulbar signs is_a: HP:0003470 ! Paralysis [Term] id: HP:0007027 name: Poorly formed metencephalon def: "A morphological abnormality of the metencephalon." [HPO:probinson] comment: The metencephalon comprises the pons and the cerebellum; contains a portion of the fourth ventricle; and the trigeminal nerve, abducens nerve, facial nerve, and a portion of the vestibulocochlear nerve. The metencephalon is part of the hindbrain. xref: UMLS:C4024951 is_a: HP:0011283 ! Abnormality of the metencephalon [Term] id: HP:0007029 name: Cerebral berry aneurysm def: "A small, sac-like aneurysm (outpouching) of a cerebral blood vessel." [HPO:probinson] comment: Saccular aneurysms are often said to have a berry-shaped appearance, whence the name. synonym: "Cerebral saccular aneurysm" EXACT [] xref: MSH:D000783 xref: SNOMEDCT_US:54002007 xref: UMLS:C2713497 is_a: HP:0004944 ! Dilatation of the cerebral artery [Term] id: HP:0007030 name: Nonprogressive encephalopathy xref: UMLS:C4024950 is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0007033 name: Cerebellar dysplasia def: "The presence of developmental dysplasia of the cerebellum." [HPO:probinson] xref: UMLS:C3278322 is_a: HP:0001317 ! Abnormal cerebellum morphology [Term] id: HP:0007034 name: Generalized hyperreflexia xref: UMLS:C4024949 is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0007035 name: Anterior encephalocele xref: UMLS:C4024948 is_a: HP:0002084 ! Encephalocele [Term] id: HP:0007036 name: Hypoplasia of olfactory tract synonym: "Underdeveloped olfactory tract" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C1856655 is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system [Term] id: HP:0007039 name: Symmetric lesions of the basal ganglia xref: UMLS:C4024947 is_a: HP:0002134 ! Abnormality of the basal ganglia [Term] id: HP:0007041 name: Chronic lymphocytic meningitis def: "Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF)." [PMID:27608867] xref: SNOMEDCT_US:230154004 xref: UMLS:C0393441 is_a: HP:0001287 ! Meningitis [Term] id: HP:0007042 name: Focal white matter lesions xref: UMLS:C4024946 is_a: HP:0002500 ! Abnormality of the cerebral white matter created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0007045 name: Midline brain calcifications xref: UMLS:C1855487 is_a: HP:0002514 ! Cerebral calcification [Term] id: HP:0007047 name: Atrophy of the dentate nucleus def: "Partial or complete wasting (loss) of dentate nucleus." [HPO:probinson] xref: UMLS:C1857788 is_a: HP:0100321 ! Abnormality of the dentate nucleus [Term] id: HP:0007048 name: Large basal ganglia def: "Increased size of the basal ganglia." [HPO:probinson] xref: UMLS:C1859470 is_a: HP:0002134 ! Abnormality of the basal ganglia [Term] id: HP:0007052 name: Multifocal cerebral white matter abnormalities xref: UMLS:C1833434 is_a: HP:0002500 ! Abnormality of the cerebral white matter created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0007054 name: Hyperreflexia proximally xref: UMLS:C1836012 is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0007057 name: Poor hand-eye coordination xref: UMLS:C1845864 is_a: HP:0002370 ! Poor coordination [Term] id: HP:0007058 name: Generalized cerebral atrophy/hypoplasia def: "Generalized atrophy or hypoplasia of the cerebrum." [HPO:sdoelken] synonym: "Generalized cerebral degeneration/underdevelopment" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024945 is_a: HP:0002059 ! Cerebral atrophy [Term] id: HP:0007063 name: Aplasia of the inferior half of the cerebellar vermis synonym: "Absent inferior half of the cerebellar vermis" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C1857787 is_a: HP:0006817 ! Aplasia/Hypoplasia of the cerebellar vermis [Term] id: HP:0007064 name: Progressive language deterioration def: "Progressive loss of previously present language abilities." [HPO:probinson] xref: UMLS:C1843793 is_a: HP:0002344 ! Progressive neurologic deterioration [Term] id: HP:0007065 name: Disorganization of the anterior cerebellar vermis xref: UMLS:C1845369 is_a: HP:0002334 ! Abnormality of the cerebellar vermis [Term] id: HP:0007066 name: Proximal limb muscle stiffness comment: Removed logical definition that used an anonymous class. Requested new term in UBERON: proximal musculature of limb xref: UMLS:C1861460 is_a: HP:0003552 ! Muscle stiffness is_a: HP:0009127 ! Abnormality of the musculature of the limbs [Term] id: HP:0007067 name: Distal peripheral sensory neuropathy def: "Peripheral sensory neuropathy affecting primarily distal sensation." [HPO:probinson] synonym: "Peripheral sensory neuropathy, distal" EXACT [] xref: UMLS:C4021582 is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0007068 name: Inferior vermis hypoplasia alt_id: HP:0005724 def: "Underdevelopment of the inferior portion of the vermis of cerebellum." [HPO:probinson, pmid:16580298] synonym: "Hypoplasia of inferior vermis" EXACT [] xref: UMLS:C1855350 is_a: HP:0001320 ! Cerebellar vermis hypoplasia [Term] id: HP:0007069 name: Profound static encephalopathy xref: UMLS:C4024944 is_a: HP:0007030 ! Nonprogressive encephalopathy [Term] id: HP:0007074 name: Thick corpus callosum alt_id: HP:0006805 alt_id: HP:0006807 alt_id: HP:0200009 alt_id: HP:0200010 def: "Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain." [KI:phemming, pmid:10029348] synonym: "Abnormal size of corpus callosum" EXACT [] synonym: "Large corpus callosum" EXACT [] xref: UMLS:C1835194 is_a: HP:0001273 ! Abnormal corpus callosum morphology [Term] id: HP:0007076 name: Extrapyramidal muscular rigidity def: "Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement)." [HPO:probinson] comment: This is a classic type of extrapyramidal movement disorder. xref: UMLS:C1852470 is_a: HP:0002063 ! Rigidity is_a: HP:0002071 ! Abnormality of extrapyramidal motor function [Term] id: HP:0007078 name: Decreased amplitude of sensory action potentials def: "A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies." [HPO:probinson] xref: UMLS:C4024943 is_a: HP:0030179 ! Abnormal peripheral action potential amplitude [Term] id: HP:0007081 name: Late-onset muscular dystrophy xref: UMLS:C4024942 is_a: HP:0003560 ! Muscular dystrophy [Term] id: HP:0007082 name: Dilated third ventricle def: "An increase in size of the third ventricle." [HPO:probinson] comment: The thrid ventricle is midline between the two lateral ventricles, and it communicates between them and the fourth ventricle. xref: UMLS:C4024941 is_a: HP:0002119 ! Ventriculomegaly [Term] id: HP:0007083 name: Hyperactive patellar reflex synonym: "Brisk knee jerk" RELATED layperson [] synonym: "Hyperreflexia in knees" EXACT [] synonym: "Overactive knee reflex" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C0240116 is_a: HP:0002395 ! Lower limb hyperreflexia [Term] id: HP:0007086 name: Social and occupational deterioration xref: UMLS:C1866986 is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0007087 name: obsolete Involuntary jerking movements is_obsolete: true replaced_by: HP:0001336 [Term] id: HP:0007089 name: Facial-lingual fasciculations def: "Fasciculations affecting the tongue muscle and the musculature of the face." [HPO:probinson] xref: UMLS:C1862359 is_a: HP:0002380 ! Fasciculations is_a: HP:0010546 ! Muscle fibrillation [Term] id: HP:0007095 name: Frontoparietal polymicrogyria def: "An excessive number of small gyri (convolutions) on the surface of the brain in the frontoparietal region." [HPO:probinson] xref: UMLS:C3279674 is_a: HP:0002126 ! Polymicrogyria [Term] id: HP:0007096 name: Hypoplasia of the optic tract synonym: "Underdeveloped optic tract" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1856654 is_a: HP:0011000 ! Aplasia/Hypoplasia of the optic tract [Term] id: HP:0007097 name: Cranial nerve motor loss xref: UMLS:C4024940 is_a: HP:0001291 ! Abnormal cranial nerve morphology [Term] id: HP:0007098 name: Paroxysmal choreoathetosis alt_id: HP:0002351 def: "Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements." [HPO:probinson] synonym: "Choreoathetosis, episodic" EXACT [] synonym: "Choreoathetosis, intermittent" EXACT [] xref: SNOMEDCT_US:49949003 xref: UMLS:C1851936 is_a: HP:0001266 ! Choreoathetosis [Term] id: HP:0007099 name: Arnold-Chiari type I malformation alt_id: HP:0002440 def: "Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle." [HPO:curators] synonym: "Arnold Chiari type I malformation" EXACT [] synonym: "Chiari I malformation" EXACT [] xref: MSH:D001139 xref: SNOMEDCT_US:253185002 xref: UMLS:C0750929 is_a: HP:0002308 ! Arnold-Chiari malformation [Term] id: HP:0007100 name: Progressive ventriculomegaly xref: UMLS:C1865119 is_a: HP:0002119 ! Ventriculomegaly [Term] id: HP:0007103 name: Hypointensity of cerebral white matter on MRI alt_id: HP:0006804 def: "A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter." [HPO:probinson] synonym: "White matter hypointensities on MRI" EXACT [] xref: UMLS:C4020908 is_a: HP:0002500 ! Abnormality of the cerebral white matter created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0007104 name: Prolonged somatosensory evoked potentials xref: UMLS:C4024939 is_a: HP:0007377 ! Abnormality of somatosensory evoked potentials [Term] id: HP:0007105 name: Infantile encephalopathy alt_id: HP:0006948 alt_id: HP:0007309 alt_id: HP:0007353 def: "Encephalopathy with onset in the infantile period." [HPO:probinson] xref: UMLS:C1856408 is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0007107 name: Segmental peripheral demyelination def: "A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system." [HPO:probinson] xref: UMLS:C4024938 is_a: HP:0011096 ! Peripheral demyelination [Term] id: HP:0007108 name: Demyelinating peripheral neuropathy alt_id: HP:0007205 def: "Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies." [HPO:probinson] xref: SNOMEDCT_US:23414001 xref: UMLS:C0270922 is_a: HP:0009830 ! Peripheral neuropathy is_a: HP:0012447 ! Abnormal myelination [Term] id: HP:0007109 name: Periventricular cysts xref: UMLS:C1839858 is_a: HP:0002518 ! Abnormality of the periventricular white matter is_a: HP:0010576 ! Intracranial cystic lesion [Term] id: HP:0007110 name: Central hypoventilation xref: UMLS:C3805839 is_a: HP:0002791 ! Hypoventilation [Term] id: HP:0007111 name: Chronic hepatic encephalopathy xref: UMLS:C4024937 is_a: HP:0002480 ! Hepatic encephalopathy [Term] id: HP:0007112 name: Temporal cortical atrophy def: "Atrophy of the temporal cortex." [HPO:probinson] xref: UMLS:C4024936 is_a: HP:0002120 ! Cerebral cortical atrophy [Term] id: HP:0007115 name: Orbital encephalocele xref: SNOMEDCT_US:15671007 xref: UMLS:C0271330 is_a: HP:0002084 ! Encephalocele [Term] id: HP:0007117 name: Corticospinal tract atrophy xref: UMLS:C1838868 is_a: HP:0007372 ! Atrophy/Degeneration involving the corticospinal tracts [Term] id: HP:0007123 name: Subcortical dementia def: "A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change." [HPO:probinson, pmid:4819905] xref: UMLS:C4024935 is_a: HP:0000726 ! Dementia [Term] id: HP:0007126 name: Proximal amyotrophy alt_id: HP:0006792 alt_id: HP:0006966 alt_id: HP:0008943 alt_id: HP:0008980 alt_id: HP:0009041 def: "Amyotrophy (muscular atrophy) affecting the proximal musculature." [HPO:probinson] comment: Proximal amyotrophy usually has a roughly symmetric distribution. synonym: "Muscle atrophy, proximal" EXACT [] synonym: "Proximal muscle atrophy" EXACT [] synonym: "Proximal muscle wasting" EXACT [] synonym: "Symmetric proximal muscular atrophy" EXACT [] synonym: "Symmetrical, proximal limb muscle atrophy" EXACT [] synonym: "Wasting of muscles near the body" EXACT layperson [ORCID:0000-0002-6548-5200] xref: UMLS:C1850794 is_a: HP:0003202 ! Skeletal muscle atrophy [Term] id: HP:0007129 name: Cerebellar medulloblastoma xref: UMLS:C4024934 is_a: HP:0002885 ! Medulloblastoma [Term] id: HP:0007131 name: Acute demyelinating polyneuropathy def: "Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration." [HPO:probinson] comment: This is a bundled term used to refer to the symptomatology associated with the Guillain-Barre syndrome. xref: UMLS:C4024933 is_a: HP:0007108 ! Demyelinating peripheral neuropathy [Term] id: HP:0007132 name: Pallidal degeneration def: "Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement." [HPO:probinson] xref: SNOMEDCT_US:230302004 xref: UMLS:C0393577 is_a: HP:0002453 ! Abnormal globus pallidus morphology is_a: HP:0012157 ! Subcortical cerebral atrophy [Term] id: HP:0007133 name: Progressive peripheral neuropathy alt_id: HP:0007329 synonym: "Progressive polyneuropathy" EXACT [] xref: UMLS:C1859178 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0007141 name: Sensorimotor neuropathy alt_id: HP:0007055 alt_id: HP:0007237 synonym: "Mixed polyneuropathy" EXACT [] synonym: "Nerve damage causing decreased feeling and movement" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Sensorimotor peripheral neuropathy" EXACT [] xref: UMLS:C1112256 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0007146 name: Bilateral basal ganglia lesions xref: UMLS:C4024932 is_a: HP:0002134 ! Abnormality of the basal ganglia [Term] id: HP:0007149 name: Distal upper limb amyotrophy def: "Muscular atrophy of distal arm muscles." [HPO:probinson] synonym: "Distal upper limb muscle atrophy" EXACT [] xref: UMLS:C4021581 is_a: HP:0003693 ! Distal amyotrophy is_a: HP:0009129 ! Upper limb amyotrophy [Term] id: HP:0007153 name: Progressive extrapyramidal movement disorder xref: UMLS:C2748610 is_a: HP:0002071 ! Abnormality of extrapyramidal motor function [Term] id: HP:0007156 name: Asymmetric limb muscle stiffness def: "Stiffness of the limbs (acondition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in an asymmetric pattern." [HPO:probinson] xref: UMLS:C4024931 is_a: HP:0003552 ! Muscle stiffness is_a: HP:0009127 ! Abnormality of the musculature of the limbs [Term] id: HP:0007158 name: Progressive extrapyramidal muscular rigidity def: "A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement)." [HPO:probinson] synonym: "Progressive extrapyramidal rigidity" EXACT [] xref: UMLS:C4021580 is_a: HP:0007076 ! Extrapyramidal muscular rigidity [Term] id: HP:0007159 name: Fluctuations in consciousness xref: UMLS:C1851959 is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0007162 name: Diffuse demyelination of the cerebral white matter def: "A diffuse loss of myelin from nerve fibers in the central nervous system." [HPO:probinson] xref: UMLS:C4024930 is_a: HP:0007305 ! CNS demyelination [Term] id: HP:0007163 name: obsolete Corticospinal tract disease in lower limbs is_obsolete: true consider: HP:0007256 [Term] id: HP:0007164 name: Slowed slurred speech synonym: "Slowed slurred speech" EXACT layperson [] xref: UMLS:C4024929 is_a: HP:0001350 ! Slurred speech [Term] id: HP:0007165 name: Periventricular heterotopia alt_id: HP:0002272 def: "A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass." [HPO:probinson, PMID:22427329] comment: Periventricular gray matter heterotopia can be seen for example in patients with Smith-Lemli-Opitz-Syndrome. synonym: "Periventricular gray matter heterotopia" EXACT [] synonym: "Periventricular neuronal heterotopia" EXACT [HPO:curators] synonym: "Subependymal gray matter heterotopia" EXACT [HPO:curators] synonym: "Subependymal neuronal heterotopia" EXACT [HPO:curators] xref: UMLS:C1849173 is_a: HP:0002282 ! Gray matter heterotopia [Term] id: HP:0007166 name: Paroxysmal dyskinesia def: "Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks." [HPO:probinson] synonym: "Involuntary dystonic or choreiform movements" RELATED [] xref: MSH:D002819 xref: UMLS:C0752210 xref: UMLS:C1836174 is_a: HP:0004305 ! Involuntary movements [Term] id: HP:0007178 name: Motor polyneuropathy alt_id: HP:0007278 synonym: "Peripheral motor neuropathy" EXACT [] xref: MSH:D009443 xref: MSH:D011115 xref: SNOMEDCT_US:85423005 xref: SNOMEDCT_US:95663000 xref: UMLS:C0235025 xref: UMLS:C0271683 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0007179 name: Absent smooth pursuit def: "A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion." [HPO:probinson] xref: UMLS:C4024928 is_a: HP:0007772 ! Impaired smooth pursuit [Term] id: HP:0007181 name: Interosseus muscle atrophy def: "Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones." [HPO:curators] comment: This term needs disambiguation. Palmar, plantar, or dorsal interosseus muscles. synonym: "Interosseous muscular atrophy" EXACT [] xref: UMLS:C1846829 is_a: HP:0003693 ! Distal amyotrophy [Term] id: HP:0007182 name: Peripheral hypomyelination alt_id: HP:0007012 alt_id: HP:0007160 alt_id: HP:0007226 def: "Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system." [HPO:probinson] comment: This finding can be demonstrated by nerve biopsy. xref: UMLS:C4024927 is_a: HP:0003130 ! Abnormal peripheral myelination [Term] id: HP:0007183 name: Focal T2 hyperintense basal ganglia lesion def: "A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia." [HPO:probinson] synonym: "Hyperintense lesions in the basal ganglia on MRI" RELATED [] xref: UMLS:C1865351 xref: UMLS:C4024926 is_a: HP:0012751 ! Abnormal basal ganglia MRI signal intensity [Term] id: HP:0007185 name: Loss of consciousness synonym: "Loss of consciousness" EXACT layperson [] synonym: "Passing out" EXACT layperson [] xref: MSH:D014474 xref: SNOMEDCT_US:418107008 xref: SNOMEDCT_US:419045004 xref: UMLS:C0041657 is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0007187 name: Focal lissencephaly def: "A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex." [KI:phemming] xref: UMLS:C1855230 is_a: HP:0001339 ! Lissencephaly [Term] id: HP:0007188 name: Congenital facial diplegia def: "Facial diplegia (that is, bilateral facial palsy) with congenital onset." [HPO:curators] synonym: "Congenital bilateral facial palsy" EXACT [ORCID:0000-0001-5889-4463] synonym: "Congenital bilateral facial weakness" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:C531747 xref: UMLS:C0853240 is_a: HP:0001349 ! Facial diplegia [Term] id: HP:0007190 name: Neuronal loss in the cerebral cortex xref: UMLS:C1849485 is_a: HP:0002538 ! Abnormality of the cerebral cortex [Term] id: HP:0007193 name: Generalized tonic-clonic seizures on awakening alt_id: HP:0007008 def: "Generalized tonic-clonic seizures on awakening are a form of Generalized tonic-clonic seizures that occur upon awaking." [HPO:probinson] synonym: "Morning generalized tonic-clonic seizures" EXACT layperson [] xref: UMLS:C1847165 is_a: HP:0002069 ! Generalized tonic-clonic seizures [Term] id: HP:0007199 name: Progressive spastic paraparesis xref: UMLS:C0747251 is_a: HP:0002313 ! Spastic paraparesis [Term] id: HP:0007200 name: Episodic hypersomnia xref: UMLS:C4024925 is_a: HP:0004372 ! Reduced consciousness/confusion is_a: HP:0100786 ! Hypersomnia [Term] id: HP:0007201 name: Cerebral artery atherosclerosis def: "Atherosclerosis (HP:0002621) of a cerebral artery." [HPO:probinson] synonym: "Plaque build-up in cerebral artery" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024924 is_a: HP:0002621 ! Atherosclerosis is_a: HP:0009145 ! Abnormal cerebral artery morphology [Term] id: HP:0007204 name: Diffuse white matter abnormalities comment: This finding is demonstrated by cerebral computer tomography or magnetic resonance imaging. xref: UMLS:C4024923 is_a: HP:0002500 ! Abnormality of the cerebral white matter created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0007206 name: Hemimegalencephaly def: "Enlargement of all or parts of one cerebral hemisphere." [HPO:probinson, pmid:17416820] comment: The affected hemisphere may have focal or diffuse neuronal migration defects, with areas of polymicrogyria, pachygyria, and heterotopia. xref: MSH:D065705 xref: SNOMEDCT_US:253170008 xref: UMLS:C0431391 is_a: HP:0001355 ! Megalencephaly [Term] id: HP:0007207 name: Photosensitive tonic-clonic seizures def: "Generalized tonic-clonic seizures that are triggered by flashing or flickering light." [HPO:probinson] synonym: "Seizures, tonic-clonic, photosensitive" EXACT [] xref: UMLS:C1846131 is_a: HP:0002069 ! Generalized tonic-clonic seizures [Term] id: HP:0007208 name: Irregular myelin loops def: "Presence of irregular redundant loops of focally folded myelin in a peripheral nerve." [pmid:20301641, pmid:8817346] xref: UMLS:C4024922 is_a: HP:0030173 ! Peripheral hypermyelination [Term] id: HP:0007209 name: Facial paralysis alt_id: HP:0007358 def: "Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve)." [HPO:probinson] comment: Facial paralysis can be caused by compression of the facial nerve.The main difference between facial paralysis and Palsy is cause for the paralysis can be identified, be it a tumor, infection, or nerve damage. Facial paralysis, in most cases, also appears more permanent than Bell's Palsy, with cases lasting for years to life if a patient doesn't seek treatment. subset: hposlim_core synonym: "Facial paralysis" EXACT layperson [] synonym: "Facial paresis" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:D005158 xref: SNOMEDCT_US:280816001 xref: SNOMEDCT_US:95666008 xref: UMLS:C0015469 xref: UMLS:C0427055 is_a: HP:0001293 ! Cranial nerve compression is_a: HP:0003470 ! Paralysis is_a: HP:0030319 ! Weakness of facial musculature [Term] id: HP:0007210 name: Lower limb amyotrophy def: "Muscular atrophy affecting the lower limb." [HPO:probinson] xref: UMLS:C4024921 is_a: HP:0003202 ! Skeletal muscle atrophy [Term] id: HP:0007215 name: Periodic hyperkalemic paralysis def: "Episodes of muscle weakness associated with elevated levels of potassium in the blood." [HPO:probinson] synonym: "Hyperkalemic periodic paralysis" EXACT [] xref: MSH:D020513 xref: SNOMEDCT_US:304737009 xref: UMLS:C0238357 is_a: HP:0003768 ! Periodic paralysis [Term] id: HP:0007220 name: Demyelinating motor neuropathy def: "Demyelination of peripheral motor nerves." [HPO:probinson] comment: Demyelinating motor neuropathy demonstrates slow motor nerve conduction velocities with reduced amplitudes of motor nerve conduction and prolonged distal latencies. xref: UMLS:C1969462 is_a: HP:0007108 ! Demyelinating peripheral neuropathy is_a: HP:0007178 ! Motor polyneuropathy [Term] id: HP:0007221 name: Progressive truncal ataxia xref: UMLS:C1849143 is_a: HP:0002078 ! Truncal ataxia [Term] id: HP:0007227 name: Macrogyria def: "Increased size of cerebral gyri, often associated with a moderate reduction in the number of sulci of the cerebrum." [HPO:probinson] xref: MSH:D054082 xref: SNOMEDCT_US:23024003 xref: UMLS:C0266483 is_a: HP:0002536 ! Abnormal cortical gyration [Term] id: HP:0007229 name: Intracerebral periventricular calcifications def: "The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles." [HPO:probinson] xref: UMLS:C1837246 is_a: HP:0002514 ! Cerebral calcification [Term] id: HP:0007230 name: Decreased distal sensory nerve action potential def: "A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies." [HPO:probinson] xref: UMLS:C4024920 is_a: HP:0007078 ! Decreased amplitude of sensory action potentials [Term] id: HP:0007232 name: Spinocerebellar tract disease in lower limbs xref: UMLS:C4024919 is_a: HP:0002503 ! Spinocerebellar tract degeneration [Term] id: HP:0007233 name: Clusters of axonal regeneration def: "Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration." [HPO:jbaets] xref: UMLS:C1843169 is_a: HP:0003450 ! Axonal regeneration [Term] id: HP:0007236 name: Recurrent subcortical infarcts xref: UMLS:C4024918 is_a: HP:0010993 ! Abnormality of the cerebral subcortex [Term] id: HP:0007238 name: Nonarteriosclerotic cerebral calcification synonym: "Cerebral calcification, nonarteriosclerotic" EXACT [] xref: UMLS:C4021579 is_a: HP:0002514 ! Cerebral calcification [Term] id: HP:0007239 name: Congenital encephalopathy xref: UMLS:C4024917 is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0007240 name: Progressive gait ataxia alt_id: HP:0002142 def: "A type of gait ataxia displaying progression of clinical severity." [HPO:probinson] synonym: "Gait ataxia, progressive" EXACT [] xref: UMLS:C1843885 is_a: HP:0002066 ! Gait ataxia [Term] id: HP:0007249 name: Decreased number of small peripheral myelinated nerve fibers xref: UMLS:C4024916 is_a: HP:0003380 ! Decreased number of peripheral myelinated nerve fibers [Term] id: HP:0007250 name: Recurrent external ophthalmoplegia def: "Alternating and recurrent weakness of the external ocular muscles." [HPO:probinson] xref: UMLS:C4024915 is_a: HP:0000544 ! External ophthalmoplegia [Term] id: HP:0007256 name: Abnormal pyramidal sign alt_id: HP:0003488 alt_id: HP:0007161 alt_id: HP:0007225 alt_id: HP:0007275 alt_id: HP:0007324 alt_id: HP:0007347 def: "Functional neurological abnormalities related to dysfunction of the pyramidal tract." [HPO:probinson] comment: Presence of these signs can indicate affection of the corticospinal (pyramidal) tracts. synonym: "Corticospinal signs" EXACT [] synonym: "Pyramidal signs" EXACT [] synonym: "Pyramidal tract signs" EXACT [] xref: SNOMEDCT_US:14648003 xref: UMLS:C0234132 is_a: HP:0002493 ! Upper motor neuron dysfunction is_a: HP:0031826 ! Abnormal reflex [Term] id: HP:0007258 name: Severe demyelination of the white matter def: "A severe loss of myelin from nerve fibers in the central nervous system." [HPO:probinson] xref: UMLS:C1856001 is_a: HP:0007305 ! CNS demyelination [Term] id: HP:0007260 name: Type II lissencephaly alt_id: HP:0006853 def: "A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers." [HPO:probinson] synonym: "Cobblestone lissencephaly" EXACT [] synonym: "Lissencephaly type II" EXACT [] synonym: "Type 2 lissencephaly" EXACT [] xref: MSH:D054222 xref: SNOMEDCT_US:253149002 xref: UMLS:C0431376 is_a: HP:0001339 ! Lissencephaly [Term] id: HP:0007262 name: Symmetric peripheral demyelination def: "A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system." [HPO:probinson] xref: UMLS:C4024914 is_a: HP:0011096 ! Peripheral demyelination [Term] id: HP:0007263 name: Spinocerebellar atrophy def: "Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord." [HPO:probinson] xref: MSH:D020754 xref: SNOMEDCT_US:129609000 xref: UMLS:C0087012 is_a: HP:0001272 ! Cerebellar atrophy [Term] id: HP:0007265 name: Absent mesencephalon def: "Agenesis of the midbrain." [KI:phemming] comment: Midbrain and mesencephalon are synonymous. xref: UMLS:C4024913 is_a: HP:0002418 ! Abnormality of midbrain morphology [Term] id: HP:0007266 name: Cerebral dysmyelination alt_id: HP:0007134 alt_id: HP:0007217 def: "Defective structure and function of myelin sheaths of the white matter of the brain." [HPO:probinson] synonym: "Areas of dysmyelination on MRI" EXACT [] synonym: "Dysmyelination of the brain" EXACT [] synonym: "White matter dysmyelination/demyelination" RELATED [] xref: UMLS:C1854885 xref: UMLS:C4020810 is_a: HP:0011400 ! Abnormal CNS myelination [Term] id: HP:0007267 name: Chronic axonal neuropathy alt_id: HP:0003446 def: "An abnormality characterized by chronic impairment of the normal functioning of the axons." [HPO:probinson] comment: This feature is assayed with sural nerve biopsy and is generally taken to be indicative of neuropathy in other peripheral nerves. synonym: "Chronic sural axonal neuropathy" EXACT [] xref: UMLS:C4021578 is_a: HP:0003477 ! Peripheral axonal neuropathy [Term] id: HP:0007268 name: Aprosencephaly xref: MSH:D000757 xref: SNOMEDCT_US:277922001 xref: UMLS:C0431349 is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum [Term] id: HP:0007269 name: Spinal muscular atrophy def: "Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem." [HPO:probinson] synonym: "Spinal muscle degeneration" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Spinal muscle wasting" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D009134 xref: SNOMEDCT_US:5262007 xref: UMLS:C0026847 is_a: HP:0003202 ! Skeletal muscle atrophy [Term] id: HP:0007270 name: Atypical absence seizure def: "An atypical absence seizure has less abrupt onset and offset of loss of awareness than typical absence seizures. They are often associated with other features such as loss of muscle tone of the head, trunk or limbs (often a gradual slump) and subtle myoclonic jerks. Atypical absence seizures often occur in individuals with intellectual impairment.The loss of awareness may be minimal with the patient continuing an activity, but more slowly or with mistakes." [HPO:probinson, PMID:28276062] synonym: "Atypical absence seizures" EXACT HP:0045078 [] synonym: "Atypical petit mal seizures" EXACT HP:0045078 [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:23374007 xref: UMLS:C0595948 is_a: HP:0002121 ! Absence seizure [Term] id: HP:0007271 name: Occipital myelomeningocele xref: UMLS:C4024912 is_a: HP:0002436 ! Occipital meningocele [Term] id: HP:0007272 name: Progressive psychomotor deterioration alt_id: HP:0006856 synonym: "Progressive mental and motor deterioration" EXACT [] xref: UMLS:C1856565 is_a: HP:0002344 ! Progressive neurologic deterioration [Term] id: HP:0007274 name: Recurrent bacterial meningitis def: "An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis." [HPO:probinson] xref: UMLS:C1845604 is_a: HP:0006946 ! Recurrent meningitis [Term] id: HP:0007277 name: Paucity of anterior horn motor neurons xref: UMLS:C2673351 is_a: HP:0002450 ! Abnormal motor neuron morphology [Term] id: HP:0007280 name: Acute infantile spinal muscular atrophy xref: UMLS:C4024911 is_a: HP:0007269 ! Spinal muscular atrophy [Term] id: HP:0007281 name: Developmental stagnation alt_id: HP:0007130 alt_id: HP:0007198 def: "A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills." [HPO:probinson] synonym: "Developmental arrest" EXACT [] xref: UMLS:C1848980 is_a: HP:0012759 ! Neurodevelopmental abnormality [Term] id: HP:0007285 name: Facial palsy secondary to cranial hyperostosis def: "Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve." [HPO:probinson] synonym: "Facial palsy caused by enlargement of cranial bones" EXACT [ORCID:0000-0001-5889-4463] synonym: "Facial palsy caused by excessive growth of facial bones" EXACT [ORCID:0000-0001-5889-4463] synonym: "Facial palsy caused by overgrowth of cranial bones" EXACT [ORCID:0000-0001-5889-4463] synonym: "Facial palsy secondary to hypertrophy of cranial bones" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1849260 is_a: HP:0005465 ! Facial hyperostosis [Term] id: HP:0007286 name: Horizontal jerk nystagmus def: "Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other." [HPO:probinson] comment: Pendular nystagmus refers to the situation in which the eye appeared to oscillate with equal speed in either direction, in contrast to jerk nystagmus, in which the movement in one direction is faster than in the other. xref: UMLS:C4024910 is_a: HP:0000666 ! Horizontal nystagmus [Term] id: HP:0007289 name: Limb fasciculations alt_id: HP:0007049 def: "Fasciculations affecting the musculature of the arms and legs." [HPO:curators] synonym: "Limb fasciculation" EXACT [] xref: UMLS:C1854657 is_a: HP:0002380 ! Fasciculations is_a: HP:0010546 ! Muscle fibrillation is_a: HP:0040064 ! Abnormality of limbs [Term] id: HP:0007291 name: Posterior fossa cyst alt_id: HP:0006985 def: "A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle." [HPO:probinson, pmid:2816648] xref: UMLS:C1857353 is_a: HP:0000932 ! Abnormality of the posterior cranial fossa is_a: HP:0010576 ! Intracranial cystic lesion [Term] id: HP:0007293 name: Anterior sacral meningocele xref: UMLS:C1867776 is_a: HP:0005765 ! Sacral meningocele [Term] id: HP:0007295 name: Chaotic rapid conjugate ocular movements xref: UMLS:C4024909 is_a: HP:0012547 ! Abnormal involuntary eye movements [Term] id: HP:0007299 name: Dysfunction of lateral corticospinal tracts xref: UMLS:C1832671 is_a: HP:0002493 ! Upper motor neuron dysfunction [Term] id: HP:0007301 name: Oromotor apraxia xref: UMLS:C4021845 is_a: HP:0002186 ! Apraxia [Term] id: HP:0007302 name: Bipolar affective disorder alt_id: HP:0000755 synonym: "Bipolar disorder" EXACT layperson [] xref: MSH:D001714 xref: SNOMEDCT_US:13746004 xref: UMLS:C0005586 is_a: HP:0031466 ! Impairment in personality functioning is_a: HP:0100754 ! Mania [Term] id: HP:0007305 name: CNS demyelination alt_id: HP:0007222 def: "A loss of myelin from nerve fibers in the central nervous system." [HPO:probinson] comment: CNS demyelination affects the white matter, which consists mostly of axons with their envelope of myelin, along with two types of neuroglia: oligo-dendrocytes and astrocytes. synonym: "Demyelination in central white matter" EXACT [] xref: UMLS:C0338474 is_a: HP:0011400 ! Abnormal CNS myelination [Term] id: HP:0007307 name: Rapid neurologic deterioration xref: UMLS:C4024908 is_a: HP:0002344 ! Progressive neurologic deterioration [Term] id: HP:0007308 name: Extrapyramidal dyskinesia xref: UMLS:C1848528 is_a: HP:0002071 ! Abnormality of extrapyramidal motor function is_a: HP:0100660 ! Dyskinesia [Term] id: HP:0007311 name: Short stepped shuffling gait synonym: "Short stepped shuffling walk" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3805715 is_a: HP:0002362 ! Shuffling gait [Term] id: HP:0007313 name: Cerebral degeneration alt_id: HP:0006874 synonym: "Neuroaxonal degeneration in the brain" EXACT [] xref: SNOMEDCT_US:418143002 xref: SNOMEDCT_US:52522001 xref: UMLS:C0154671 is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum [Term] id: HP:0007314 name: obsolete White matter neuronal heterotopia is_obsolete: true replaced_by: HP:0002282 [Term] id: HP:0007316 name: obsolete Involuntary writhing movements is_obsolete: true replaced_by: HP:0002305 [Term] id: HP:0007321 name: Deep white matter hypodensities def: "Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter." [HPO:probinson, pmid:16239634] comment: See also defintion for "Periventricular white matter hypodensities". These two entities are in contra-distinction to each other. synonym: "Deep cerebral white matter hypodensities" EXACT [] xref: UMLS:C1856979 is_a: HP:0007103 ! Hypointensity of cerebral white matter on MRI created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0007325 name: Generalized dystonia def: "A type of dystonia that affects all or most of the body." [HPO:probinson] xref: SNOMEDCT_US:425492002 xref: UMLS:C1848954 is_a: HP:0001332 ! Dystonia [Term] id: HP:0007326 name: Progressive choreoathetosis xref: UMLS:C1860216 is_a: HP:0001266 ! Choreoathetosis [Term] id: HP:0007327 name: Mixed demyelinating and axonal polyneuropathy xref: UMLS:C4024907 is_a: HP:0009830 ! Peripheral neuropathy is_a: HP:0012447 ! Abnormal myelination [Term] id: HP:0007328 name: Impaired pain sensation alt_id: HP:0002713 def: "Reduced ability to perceive painful stimuli." [HPO:probinson] synonym: "Decreased pain sensation" EXACT layperson [] synonym: "Decreased pinprick sensation" EXACT [] synonym: "Impaired pain sensation" EXACT layperson [] xref: UMLS:C1837522 is_a: HP:0010832 ! Abnormality of pain sensation [Term] id: HP:0007330 name: Frontal encephalocele xref: MSH:D004677 xref: SNOMEDCT_US:253103006 xref: UMLS:C0431289 is_a: HP:0002084 ! Encephalocele [Term] id: HP:0007332 name: Hemifacial seizures def: "Focal clonic seizures affecting one side of the face." [HPO:jalbers] comment: Used to describe rolandic seizures in familial epilepsy syndromes, such as Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (PMID 10072049). xref: UMLS:C4024906 is_a: HP:0002266 ! Focal clonic seizures [Term] id: HP:0007333 name: Hypoplasia of the frontal lobes alt_id: HP:0002424 def: "Underdevelopment of the frontal lobe of the cerebrum." [HPO:sdoelken] synonym: "Frontal lobe hypoplasia" EXACT [] synonym: "Hypoplastic frontal lobes" EXACT [] synonym: "Underdeveloped frontal lobe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1849172 is_a: HP:0002538 ! Abnormality of the cerebral cortex is_a: HP:0006872 ! Cerebral hypoplasia [Term] id: HP:0007334 name: Generalized tonic-clonic seizures with focal onset alt_id: HP:0002602 def: "Bilateral convulsive seizures are focal seizure with secondary bilateral motor phenomena, not primary generalized seizures." [HPO:probinson] synonym: "Bilateral convulsive seizures" EXACT [] synonym: "Partial seizures with secondary generalization" EXACT [] synonym: "Secondarily generalised tonic-clonic seizures" EXACT [] synonym: "Secondary generalized tonic clonic seizures" EXACT [] synonym: "Secondary generalized tonic-clonic seizures" EXACT [] xref: UMLS:C0877017 is_a: HP:0002069 ! Generalized tonic-clonic seizures [Term] id: HP:0007335 name: Recurrent encephalopathy alt_id: HP:0006947 def: "Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections." [HPO:probinson] synonym: "Recurrent cerebellar and extrapyramidal encephalopathy" EXACT [] xref: UMLS:C1850719 is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0007338 name: Hypermetric saccades def: "A saccade that overshoots the target with the dynamic saccade." [HPO:probinson, pmid:572501] xref: SNOMEDCT_US:246769000 xref: UMLS:C0423083 is_a: HP:0000570 ! Abnormal saccadic eye movements [Term] id: HP:0007340 name: Lower limb muscle weakness alt_id: HP:0002065 alt_id: HP:0002477 alt_id: HP:0009047 def: "Weakness of the muscles of the legs." [HPO:curators] comment: Inability to perform rapid, alternating movements. synonym: "Leg weakness" RELATED layperson [HPO:skoehler] synonym: "Lower extremity weakness" EXACT layperson [] synonym: "Lower limb muscle weakness" EXACT layperson [] synonym: "Lower limb weakness" EXACT layperson [] synonym: "Muscle weakness in lower limbs" EXACT layperson [] xref: SNOMEDCT_US:249945007 xref: UMLS:C0427068 xref: UMLS:C1836296 is_a: HP:0003690 ! Limb muscle weakness [Term] id: HP:0007341 name: Diffuse swelling of cerebral white matter xref: UMLS:C1858855 is_a: HP:0002500 ! Abnormality of the cerebral white matter [Term] id: HP:0007343 name: Abnormal morphology of the limbic system def: "Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex]." [] synonym: "Limbic malformation" EXACT [] xref: UMLS:C1863392 is_a: HP:0100547 ! Abnormality of forebrain morphology [Term] id: HP:0007344 name: Atrophy/Degeneration involving the spinal cord synonym: "Atrophic and degenerative changes in the spinal cord" EXACT [] xref: UMLS:C1843858 is_a: HP:0002143 ! Abnormality of the spinal cord is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system [Term] id: HP:0007346 name: Subcortical white matter calcifications xref: UMLS:C1851430 is_a: HP:0002500 ! Abnormality of the cerebral white matter is_a: HP:0002514 ! Cerebral calcification created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0007348 name: Hypoplasia of the pyramidal tract xref: UMLS:C1850871 is_a: HP:0007363 ! Aplasia/Hypoplasia of the pyramidal tract [Term] id: HP:0007350 name: Hyperreflexia in upper limbs xref: UMLS:C1843175 is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0007351 name: Upper limb postural tremor alt_id: HP:0007297 def: "A type of tremors that is triggered by holding an arm in a fixed position." [HPO:probinson] synonym: "Postural tremor of arms" EXACT [] xref: UMLS:C1867138 is_a: HP:0002174 ! Postural tremor is_a: HP:0200085 ! Limb tremor [Term] id: HP:0007352 name: Cerebellar calcifications xref: UMLS:C1851431 is_a: HP:0001317 ! Abnormal cerebellum morphology is_a: HP:0010766 ! Ectopic calcification [Term] id: HP:0007354 name: Amyotrophic lateral sclerosis synonym: "Lou Gehrig's disease" RELATED layperson [ORCID:0000-0001-5208-3432] xref: MSH:D000690 xref: SNOMEDCT_US:86044005 xref: UMLS:C0002736 is_a: HP:0007373 ! Motor neuron atrophy [Term] id: HP:0007359 name: Focal-onset seizure alt_id: HP:0002358 def: "Seizures of which initial semiology indicates, or is consistent with, initial activation of only part of one cerebral hemisphere." [HPO:jalbers] comment: Partial seizures can be classified as simple (consciousness is maintained) or complex (consciousness is impaired or lost). synonym: "Focal seizure" EXACT [] synonym: "Focal seizures" EXACT HP:0045078 [] synonym: "Focal-onset seizures" EXACT HP:0045078 [] synonym: "Partial seizures" EXACT [] synonym: "Seizure affecting one half of brain" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D012640 xref: SNOMEDCT_US:29753000 xref: UMLS:C0751495 is_a: HP:0001250 ! Seizures created_by: peter creation_date: 2008-03-31T05:27:00Z [Term] id: HP:0007360 name: Aplasia/Hypoplasia of the cerebellum alt_id: HP:0006857 alt_id: HP:0007368 synonym: "Absent/small cerebellum" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped cerebellum" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Atrophy/Degeneration affecting the cerebellum" EXACT [] synonym: "Atrophy/Hypoplasia of the cerebellum" EXACT [] synonym: "Cerebellar hypoplasia/atrophy" EXACT [] xref: UMLS:C3279222 is_a: HP:0001317 ! Abnormal cerebellum morphology is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system created_by: peter creation_date: 2008-03-31T05:30:00Z [Term] id: HP:0007361 name: Abnormality of the pons def: "An abnormality of the pons." [HPO:probinson] comment: The pons is the portion of the brainstem superior to the medulla oblongata. xref: UMLS:C4024905 is_a: HP:0002363 ! Abnormality of brainstem morphology is_a: HP:0011283 ! Abnormality of the metencephalon created_by: peter creation_date: 2008-03-31T05:32:00Z [Term] id: HP:0007362 name: Aplasia/Hypoplasia of the brainstem synonym: "Absent/small brainstem" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped brainstem" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024904 is_a: HP:0002363 ! Abnormality of brainstem morphology is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system created_by: peter creation_date: 2008-03-31T05:33:00Z [Term] id: HP:0007363 name: Aplasia/Hypoplasia of the pyramidal tract xref: UMLS:C4024903 is_a: HP:0002062 ! Morphological abnormality of the pyramidal tract is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system created_by: peter creation_date: 2008-03-31T05:41:00Z [Term] id: HP:0007364 name: Aplasia/Hypoplasia of the cerebrum synonym: "Absent/small cerebrum" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Absent/underdeveloped cerebrum" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024902 is_a: HP:0002060 ! Abnormality of the cerebrum is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system created_by: peter creation_date: 2008-03-31T05:43:00Z [Term] id: HP:0007365 name: Aplasia/Hypoplasia involving the corticospinal tracts xref: UMLS:C4024901 is_a: HP:0002492 ! Abnormality of the corticospinal tract is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system created_by: peter creation_date: 2008-03-31T05:45:00Z [Term] id: HP:0007366 name: Atrophy/Degeneration affecting the brainstem synonym: "Brainstem atrophy" EXACT [] xref: UMLS:C4024900 is_a: HP:0002363 ! Abnormality of brainstem morphology is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system created_by: peter creation_date: 2008-04-01T10:22:00Z [Term] id: HP:0007367 name: Atrophy/Degeneration affecting the central nervous system synonym: "Atrophy/Degeneration affecting the CNS" EXACT HP:0045077 [] xref: UMLS:C4024899 is_a: HP:0002011 ! Morphological abnormality of the central nervous system created_by: peter creation_date: 2008-04-01T10:23:00Z [Term] id: HP:0007369 name: Atrophy/Degeneration affecting the cerebrum def: "The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain." [HPO:probinson] xref: UMLS:C4024898 is_a: HP:0002060 ! Abnormality of the cerebrum is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system is_a: HP:0012444 ! Brain atrophy created_by: peter creation_date: 2008-04-01T10:28:00Z [Term] id: HP:0007370 name: Aplasia/Hypoplasia of the corpus callosum alt_id: HP:0007003 alt_id: HP:0007060 alt_id: HP:0007061 alt_id: HP:0007137 def: "Absence or underdevelopment of the corpus callosum." [HPO:probinson] synonym: "Absent/hypoplastic corpus callosum" EXACT [] synonym: "Agenesis/hypoplastic corpus callosum" EXACT [] synonym: "Complete or partial absence of the corpus callosum" EXACT [] synonym: "Hypoplasia or absence of the corpus callosum" EXACT [] synonym: "Hypoplastic or absent corpus callosum" EXACT [] xref: UMLS:C1861866 is_a: HP:0001273 ! Abnormal corpus callosum morphology is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum created_by: peter creation_date: 2008-04-01T10:35:00Z [Term] id: HP:0007371 name: Corpus callosum atrophy alt_id: HP:0005712 def: "The presence of atrophy (wasting) of the corpus callosum." [HPO:sdoelken] synonym: "Atrophic corpus callosum" EXACT [] synonym: "Atrophy of the corpus callosum" EXACT [] synonym: "Atrophy/Degeneration of the corpus callosum" EXACT [] xref: SNOMEDCT_US:253142006 xref: UMLS:C0431370 is_a: HP:0001273 ! Abnormal corpus callosum morphology is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum is_a: HP:0012762 ! Cerebral white matter atrophy created_by: peter creation_date: 2008-04-01T10:36:00Z [Term] id: HP:0007372 name: Atrophy/Degeneration involving the corticospinal tracts xref: UMLS:C4024897 is_a: HP:0002492 ! Abnormality of the corticospinal tract is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system created_by: peter creation_date: 2008-04-01T10:38:00Z [Term] id: HP:0007373 name: Motor neuron atrophy def: "Wasting involving the motor neuron." [HPO:probinson] synonym: "Motor neuron degeneration" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4024896 is_a: HP:0002450 ! Abnormal motor neuron morphology is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system created_by: peter creation_date: 2008-04-01T10:39:00Z [Term] id: HP:0007374 name: Atrophy/Degeneration involving the caudate nucleus xref: UMLS:C4024895 is_a: HP:0002339 ! Abnormal caudate nucleus morphology is_a: HP:0012444 ! Brain atrophy created_by: peter creation_date: 2008-04-01T10:47:00Z [Term] id: HP:0007375 name: Abnormality of the septum pellucidum def: "An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain." [HPO:probinson] xref: UMLS:C4024894 is_a: HP:0002060 ! Abnormality of the cerebrum created_by: peter creation_date: 2008-04-01T10:48:00Z [Term] id: HP:0007376 name: Abnormality of the choroid plexus def: "An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells." [HPO:probinson] comment: The choroid plexus is a structure in the ventricles of the brain where cerebrospinal fluid (CSF) is produced. xref: UMLS:C4024893 is_a: HP:0002118 ! Abnormality of the cerebral ventricles created_by: peter creation_date: 2008-04-01T10:52:00Z [Term] id: HP:0007377 name: Abnormality of somatosensory evoked potentials def: "An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex." [HPO:curators] synonym: "Abnormality of SSEPs" EXACT [] xref: UMLS:C4021577 is_a: HP:0030177 ! Abnormality of peripheral nervous system electrophysiology is_a: HP:0030178 ! Abnormality of central nervous system electrophysiology created_by: peter creation_date: 2008-04-01T11:23:00Z [Term] id: HP:0007378 name: Neoplasm of the gastrointestinal tract def: "A tumor (abnormal growth of tissue) of the gastrointestinal tract." [HPO:probinson] synonym: "Gastrointestinal tract neoplasia" EXACT [] synonym: "Gastrointestinal tract neoplasm" EXACT [] synonym: "Gastrointestinal tract tumor" EXACT layperson [] synonym: "GI tract tumor" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Neoplasm of the GI tract" EXACT HP:0045077 [] xref: MSH:D005770 xref: NCIT:C3262 xref: SNOMEDCT_US:126768004 xref: UMLS:C0017185 is_a: HP:0011024 ! Abnormality of the gastrointestinal tract is_a: HP:0011793 ! Neoplasm by anatomical site created_by: peter creation_date: 2008-04-01T11:55:00Z [Term] id: HP:0007379 name: Neoplasm of the genitourinary tract def: "A tumor (abnormal growth of tissue) of the genitourinary system." [HPO:probinson] synonym: "Genitourinary tract neoplasia" RELATED [] synonym: "Genitourinary tract neoplasm" EXACT [] synonym: "Genitourinary tract tumors" EXACT layperson [] synonym: "Neoplasm of the GU tract" EXACT HP:0045077 [] xref: MSH:D014565 xref: NCIT:C3262 xref: UMLS:C0042065 xref: UMLS:C4020809 is_a: HP:0000119 ! Abnormality of the genitourinary system is_a: HP:0011793 ! Neoplasm by anatomical site created_by: peter creation_date: 2008-04-01T12:00:00Z [Term] id: HP:0007380 name: Facial telangiectasia alt_id: HP:0007520 def: "Telangiectases (small dilated blood vessels) located near the surface of the skin of the face." [HPO:probinson] synonym: "Facial telangiectatic vessels" EXACT [] synonym: "Telangiectasia, facial" EXACT [] xref: UMLS:C0858684 is_a: HP:0100585 ! Telangiectasia of the skin [Term] id: HP:0007381 name: Congenital exfoliative erythroderma xref: UMLS:C4024892 is_a: HP:0001019 ! Erythroderma [Term] id: HP:0007383 name: Congenital localized absence of skin alt_id: HP:0007557 synonym: "Congenital localized skin absence" EXACT [] xref: UMLS:C2673597 is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0007384 name: Aberrant melanosome maturation xref: UMLS:C1969516 is_a: HP:0011125 ! Abnormality of dermal melanosomes [Term] id: HP:0007385 name: Aplasia cutis congenita of scalp alt_id: HP:0000994 alt_id: HP:0007568 def: "A developmental defect resulting in the congenital absence of skin on the scalp." [HPO:probinson] subset: hposlim_core synonym: "Defect of scalp" BROAD [] synonym: "Focal absence of scalp tissue" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Scalp aplasia cutis congenita" EXACT [] synonym: "Scalp defect" BROAD [] synonym: "Solitary scalp defect" BROAD [ORCID:0000-0001-5889-4463] xref: UMLS:C1855698 xref: UMLS:C4048801 xref: UMLS:C4072857 xref: UMLS:C4072858 is_a: HP:0001057 ! Aplasia cutis congenita [Term] id: HP:0007387 name: Hypoplastic sweat glands def: "Underdevelopment of the sweat glands." [HPO:curators] synonym: "Underdeveloped sweat glands" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1832455 is_a: HP:0011135 ! Aplasia/Hypoplasia of the sweat glands [Term] id: HP:0007390 name: Hyperkeratosis with erythema xref: UMLS:C4024891 is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007392 name: Excessive wrinkled skin synonym: "Excessive wrinkled skin" EXACT layperson [] xref: UMLS:C4024890 is_a: HP:0008067 ! Abnormally lax or hyperextensible skin is_a: HP:0100678 ! Premature skin wrinkling [Term] id: HP:0007394 name: Prominent superficial blood vessels alt_id: HP:0007577 synonym: "Prominent superficial blood vessels" EXACT layperson [] synonym: "Prominent superficial vasculature" EXACT layperson [] xref: UMLS:C1848771 is_a: HP:0011276 ! Vascular skin abnormality [Term] id: HP:0007395 name: Postnatal-onset ichthyosiform erythroderma def: "A type of ichthyosiform erythroderma with postnatal onset." [HPO:probinson] synonym: "Postnatal-onset ichthyosis" EXACT [] xref: UMLS:C4021576 is_a: HP:0008064 ! Ichthyosis [Term] id: HP:0007396 name: Early cutaneous photosensitivity def: "Photosensitivity of the skin occurring early in life." [HPO:probinson] synonym: "Sun sensitivity occurring early in life" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024889 is_a: HP:0000992 ! Cutaneous photosensitivity [Term] id: HP:0007397 name: Axillary apocrine gland hypoplasia def: "Developmental hypoplasia of the apocrine sweat glands in the region of the axilla." [HPO:probinson] xref: UMLS:C1867003 is_a: HP:0011135 ! Aplasia/Hypoplasia of the sweat glands [Term] id: HP:0007398 name: Asymmetric, linear skin defects xref: UMLS:C4024888 is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0007400 name: Irregular hyperpigmentation xref: UMLS:C1860236 is_a: HP:0000953 ! Hyperpigmentation of the skin [Term] id: HP:0007401 name: Macular atrophy def: "Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss." [ORCID:0000-0003-0986-4123] xref: MSH:D057088 xref: SNOMEDCT_US:238828009 xref: UMLS:C1288283 is_a: HP:0000608 ! Macular degeneration is_a: HP:0001105 ! Retinal atrophy [Term] id: HP:0007402 name: Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines xref: UMLS:C4024886 is_a: HP:0009123 ! Mixed hypo- and hyperpigmentation of the skin [Term] id: HP:0007403 name: Hypertrophy of skin of soles synonym: "Thick skin of soles" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1867617 is_a: HP:0100872 ! Abnormality of the plantar skin of foot [Term] id: HP:0007404 name: Nonepidermolytic palmoplantar keratoderma xref: MSH:C563422 xref: UMLS:C1833030 is_a: HP:0000982 ! Palmoplantar keratoderma [Term] id: HP:0007406 name: Hyperpigmentation of eyelids synonym: "Brown eyelids" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Dark eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Pigmentation of eyelids" RELATED layperson [ORCID:0000-0001-5889-4463] xref: MSH:C562400 xref: SNOMEDCT_US:41115008 xref: UMLS:C0155211 xref: UMLS:C0854438 xref: UMLS:C4280440 is_a: HP:0000492 ! Abnormal eyelid morphology is_a: HP:0007400 ! Irregular hyperpigmentation [Term] id: HP:0007407 name: Excessive skin wrinkling on dorsum of hands and fingers synonym: "Excessive skin wrinkling on back of hands and fingers" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1837467 is_a: HP:0007392 ! Excessive wrinkled skin [Term] id: HP:0007408 name: Tegumentary leishmaniasis susceptibility def: "Increased susceptibility to infection by the protozan parasite of the genus Leishmania." [HPO:probinson] xref: UMLS:C2748501 is_a: HP:0005386 ! Recurrent protozoan infections [Term] id: HP:0007409 name: obsolete Absence of subcutaneous fat over entire body except buttocks, hips, and thighs is_obsolete: true replaced_by: HP:0003758 [Term] id: HP:0007410 name: Palmoplantar hyperhidrosis alt_id: HP:0007624 def: "An abnormally increased perspiration on palms and soles." [HPO:probinson] synonym: "Excessive sweating of palms and soles" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hyperhidrosis of palms and soles" EXACT [] xref: MSH:C563185 xref: SNOMEDCT_US:403375001 xref: UMLS:C1274743 is_a: HP:0006089 ! Palmar hyperhidrosis is_a: HP:0100872 ! Abnormality of the plantar skin of foot [Term] id: HP:0007411 name: Hypoplastic-absent sebaceous glands xref: UMLS:C1844617 is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0007412 name: Macular hyperpigmented dermopathy xref: UMLS:C4024885 is_a: HP:0001034 ! Hypermelanotic macule [Term] id: HP:0007413 name: Nevus flammeus of the forehead def: "Naevus flammeus localised in the skin of the forehead." [HPO:sdoelken] synonym: "Port-wine stain on forehead" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1848850 is_a: HP:0001052 ! Nevus flammeus [Term] id: HP:0007414 name: Neonatal wrinkled skin of hands and feet synonym: "Wrinkled skin of hands and feet in newborn" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024884 is_a: HP:0100678 ! Premature skin wrinkling [Term] id: HP:0007417 name: Discoid lupus rash alt_id: HP:0000981 def: "Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy." [] comment: This lesion is characterstic of discoid lupus erythematosus, but similar lesions may be observed in other diseases. synonym: "Discoid lupus erythematosus" EXACT [] xref: MSH:D008179 xref: SNOMEDCT_US:200938002 xref: SNOMEDCT_US:238927000 xref: UMLS:C0024138 is_a: HP:0000988 ! Skin rash created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0007418 name: Alopecia totalis def: "Loss of all scalp hair." [HPO:probinson] synonym: "Total alopecia" RELATED [] xref: SNOMEDCT_US:19754005 xref: UMLS:C0263504 is_a: HP:0001596 ! Alopecia [Term] id: HP:0007420 name: Spontaneous hematomas def: "Spontaneous development of hematomas (hematoma) or bruises without significant trauma." [DDD:akelly] xref: UMLS:C1697453 is_a: HP:0001933 ! Subcutaneous hemorrhage [Term] id: HP:0007421 name: Telangiectases of the cheeks def: "Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks." [HPO:curators] synonym: "Telangiectasia on the cheeks" RELATED [HPO:skoehler] xref: UMLS:C3554587 is_a: HP:0007380 ! Facial telangiectasia [Term] id: HP:0007425 name: Hyperextensible skin of face synonym: "Hyperelastic face skin" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Stretchable face skin" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024883 is_a: HP:0007458 ! Focal hyperextensible skin [Term] id: HP:0007427 name: Reticulated skin pigmentation synonym: "Reticular pigmentation pattern" RELATED [HPO:skoehler] synonym: "Reticulate skin pigmentation" RELATED [HPO:skoehler] xref: UMLS:C3279575 xref: UMLS:C3279601 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007428 name: Telangiectasia of the oral mucosa def: "Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa." [HPO:probinson] synonym: "Angioectasia of the oral mucosa" EXACT [ORCID:0000-0001-5889-4463] synonym: "Angioectasia of the oral mucous membrane" EXACT [ORCID:0000-0001-5889-4463] synonym: "Spider veins of the oral mucosa" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Telangiectasia of the oral mucous membrane" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4024882 is_a: HP:0000228 ! Oral cavity telangiectasia [Term] id: HP:0007429 name: Few cafe-au-lait spots def: "The presence of two to five cafe-au-lait macules." [DDD:cmoss] xref: UMLS:C4024881 is_a: HP:0000957 ! Cafe-au-lait spot [Term] id: HP:0007430 name: Generalized edema alt_id: HP:0007575 def: "Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body." [HPO:curators] synonym: "Generalized tissue edema" EXACT [] xref: SNOMEDCT_US:271808008 xref: UMLS:C1850534 is_a: HP:0000969 ! Edema [Term] id: HP:0007431 name: Congenital ichthyosiform erythroderma alt_id: HP:0007478 alt_id: HP:0007484 def: "An ichthyosiform abnormality of the skin with congenital onset." [HPO:probinson] synonym: "Congenital ichthyosis" EXACT [] synonym: "Ichthyosis, congenital" EXACT [] xref: MSH:D016113 xref: SNOMEDCT_US:254156001 xref: SNOMEDCT_US:268282005 xref: UMLS:C0079583 is_a: HP:0008064 ! Ichthyosis [Term] id: HP:0007432 name: Intermittent generalized erythematous papular rash xref: UMLS:C2749995 is_a: HP:0200034 ! Papule [Term] id: HP:0007434 name: Plaque-like facial hemangioma def: "Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology." [HPO:probinson] synonym: "Hemangioma, facial, plaque-like" EXACT [] xref: UMLS:C1847884 is_a: HP:0000329 ! Facial hemangioma [Term] id: HP:0007435 name: Diffuse palmoplantar keratoderma xref: MSH:D015776 xref: SNOMEDCT_US:400123002 xref: UMLS:C0022584 is_a: HP:0000982 ! Palmoplantar keratoderma [Term] id: HP:0007436 name: Hair-nail ectodermal dysplasia xref: UMLS:C4024880 is_a: HP:0000968 ! Ectodermal dysplasia [Term] id: HP:0007437 name: Multiple cutaneous leiomyomas def: "The presence of multiple leiomyomas of the skin." [HPO:probinson] xref: MSH:C535516 xref: NCIT:C3157 xref: UMLS:C1708350 is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0007438 name: Mottled pigmentation of the trunk and proximal extremities xref: UMLS:C1851551 is_a: HP:0001070 ! Mottled pigmentation [Term] id: HP:0007439 name: Generalized keratosis follicularis xref: UMLS:C4024879 is_a: HP:0011368 ! Epidermal thickening [Term] id: HP:0007440 name: Generalized hyperpigmentation alt_id: HP:0007540 xref: UMLS:C4024878 is_a: HP:0000953 ! Hyperpigmentation of the skin [Term] id: HP:0007441 name: Hyperpigmented/hypopigmented macules xref: UMLS:C4024877 is_a: HP:0009123 ! Mixed hypo- and hyperpigmentation of the skin is_a: HP:0012733 ! Macule [Term] id: HP:0007443 name: Partial albinism alt_id: HP:0001044 def: "Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs." [HPO:probinson] synonym: "Congenital partial albinism on face, trunk, or limbs" EXACT [] synonym: "Congenital partial leucoderma" EXACT [] synonym: "Partial absent skin pigmentation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D016116 xref: SNOMEDCT_US:6479008 xref: SNOMEDCT_US:718122005 xref: UMLS:C0080024 is_a: HP:0001010 ! Hypopigmentation of the skin [Term] id: HP:0007446 name: Palmoplantar blistering def: "A type of blistering that affects the skin of the palms of the hands and the soles of the feet." [HPO:probinson] xref: UMLS:C4024876 is_a: HP:0040211 ! Abnormality of the skin of the palm is_a: HP:0100872 ! Abnormality of the plantar skin of foot [Term] id: HP:0007447 name: Diffuse palmoplantar hyperkeratosis synonym: "Hyperkeratosis, diffuse palmoplantar" EXACT [] xref: UMLS:C4021575 is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007448 name: Hyperkeratosis over edematous areas xref: UMLS:C1835253 is_a: HP:0000962 ! Hyperkeratosis is_a: HP:0000969 ! Edema [Term] id: HP:0007449 name: Confetti-like hypopigmented macules xref: UMLS:C1851705 is_a: HP:0020073 ! Hypopigmented macule [Term] id: HP:0007450 name: Increased groin pigmentation with raindrop depigmentation xref: UMLS:C4024875 is_a: HP:0007400 ! Irregular hyperpigmentation is_a: HP:0009123 ! Mixed hypo- and hyperpigmentation of the skin [Term] id: HP:0007451 name: Ipsilateral lack of facial sweating xref: UMLS:C4024874 is_a: HP:0025276 ! Abnormality of skin adnexa physiology [Term] id: HP:0007452 name: Midface capillary hemangioma alt_id: HP:0007611 synonym: "Midfacial capillary hemangioma" EXACT [] xref: UMLS:C1849377 is_a: HP:0000996 ! Facial capillary hemangioma [Term] id: HP:0007453 name: Flexural lichenification def: "Lichenification affecting primarily flexural areas of the skin." [HPO:probinson] comment: The parts of the skin that touch when a joint flexes (bends) are called the flexural surfaces. xref: UMLS:C4024873 is_a: HP:0100725 ! Lichenification [Term] id: HP:0007455 name: Adermatoglyphia xref: MSH:C565010 xref: UMLS:C1852150 is_a: HP:0007477 ! Abnormal dermatoglyphics [Term] id: HP:0007456 name: Progressive reticulate hyperpigmentation xref: UMLS:C4024872 is_a: HP:0007400 ! Irregular hyperpigmentation [Term] id: HP:0007457 name: Prominent veins on trunk def: "Prominent thoracic and abdominal veins." [HPO:probinson] xref: UMLS:C4024871 is_a: HP:0001015 ! Prominent superficial veins [Term] id: HP:0007458 name: Focal hyperextensible skin xref: UMLS:C4024870 is_a: HP:0000974 ! Hyperextensible skin [Term] id: HP:0007459 name: Generalized anhidrosis synonym: "Generalized inability to sweat" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4024869 is_a: HP:0025276 ! Abnormality of skin adnexa physiology [Term] id: HP:0007460 name: Autoamputation of digits xref: UMLS:C1852289 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0001218 ! Autoamputation [Term] id: HP:0007461 name: Hemangiomatosis xref: SNOMEDCT_US:254785001 xref: SNOMEDCT_US:47669001 xref: UMLS:C1384590 is_a: HP:0001028 ! Hemangioma [Term] id: HP:0007462 name: Bitot spots of the conjunctiva def: "Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot." [HPO:probinson] comment: Bitot spots can be a feature of vitamin A deficiency. synonym: "Bitot's spots" RELATED [] xref: SNOMEDCT_US:246871006 xref: UMLS:C0423178 xref: UMLS:C4024868 is_a: HP:0000502 ! Abnormal conjunctiva morphology [Term] id: HP:0007464 name: Sparse facial hair def: "Reduced number or density of facial hair." [HPO:probinson] synonym: "Sparse facial hair" EXACT layperson [] xref: UMLS:C2017869 is_a: HP:0008070 ! Sparse hair [Term] id: HP:0007465 name: Honeycomb palmoplantar keratoderma xref: UMLS:C1866032 is_a: HP:0000982 ! Palmoplantar keratoderma [Term] id: HP:0007466 name: Midfrontal capillary hemangioma xref: UMLS:C1859339 is_a: HP:0000996 ! Facial capillary hemangioma [Term] id: HP:0007468 name: Perifollicular hyperkeratosis def: "Increased amount of keratin (visible as white scales) surrounding hair follicles." [PMID:23044575] subset: hposlim_core xref: UMLS:C4024867 is_a: HP:0000962 ! Hyperkeratosis is_a: HP:0031285 ! Abnormal perifollicular morphology [Term] id: HP:0007469 name: Palmoplantar cutis gyrata def: "Cutis gyrata of palms and soles." [HPO:probinson] synonym: "Cutis gyrata of palms and soles" EXACT [] xref: UMLS:C1851797 is_a: HP:0007477 ! Abnormal dermatoglyphics is_a: HP:0040211 ! Abnormality of the skin of the palm is_a: HP:0100872 ! Abnormality of the plantar skin of foot [Term] id: HP:0007470 name: Periarticular subcutaneous nodules def: "Subcutaneous nodules that are located in the vicinity of joints." [HPO:probinson] xref: UMLS:C3806306 is_a: HP:0001482 ! Subcutaneous nodule [Term] id: HP:0007471 name: Axillary and groin hyperpigmentation and hypopigmentation xref: UMLS:C4024866 is_a: HP:0009123 ! Mixed hypo- and hyperpigmentation of the skin [Term] id: HP:0007473 name: Crusting erythematous dermatitis xref: UMLS:C1868496 is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0007475 name: Congenital bullous ichthyosiform erythroderma def: "An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized, erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet." [HPO:probinson] comment: Epidermolytic hyperkeratosis can refer to the disease caused by mutations in the genes keratin 1 or keratin 10, but is here used to refer to the characteristic skin manifestations as a phenotypic feature. synonym: "Bullous congenital ichthyosiform erythroderma" EXACT [] synonym: "Epidermolytic hyperkeratosis" EXACT [] xref: MSH:D017488 xref: SNOMEDCT_US:239071005 xref: SNOMEDCT_US:254167000 xref: UMLS:C0079153 is_a: HP:0007431 ! Congenital ichthyosiform erythroderma [Term] id: HP:0007476 name: Anhidrotic ectodermal dysplasia xref: MSH:D004476 xref: SNOMEDCT_US:7731005 xref: UMLS:C1706004 is_a: HP:0000968 ! Ectodermal dysplasia [Term] id: HP:0007477 name: Abnormal dermatoglyphics alt_id: HP:0007422 def: "An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles." [HPO:probinson] subset: hposlim_core synonym: "Abnormal fingerprints" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Dermatoglyphic abnormalities" EXACT [] xref: SNOMEDCT_US:83145004 xref: UMLS:C0432333 is_a: HP:0011356 ! Regional abnormality of skin [Term] id: HP:0007479 name: Congenital nonbullous ichthyosiform erythroderma alt_id: HP:0001021 alt_id: HP:0007388 alt_id: HP:0007512 alt_id: HP:0007619 alt_id: HP:0007625 def: "The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales." [HPO:sdoelken] synonym: "Collodion baby" EXACT [] synonym: "Congenital lamellar ichthyosis" EXACT [] synonym: "Congenital non-bullous ichthyosis" EXACT [] synonym: "Ichthyosis lammellaris" EXACT [] synonym: "Ichthyosis, congenital, nonblistering" EXACT [] synonym: "Nonbullous congenital ichthyosiform erythroderma" EXACT [] synonym: "Nonbullous congenital ichthyosis" EXACT [] xref: MSH:D017490 xref: SNOMEDCT_US:205550003 xref: SNOMEDCT_US:267372009 xref: SNOMEDCT_US:268245001 xref: UMLS:C0079154 is_a: HP:0007431 ! Congenital ichthyosiform erythroderma [Term] id: HP:0007480 name: Decreased sweating due to autonomic dysfunction xref: UMLS:C1868527 is_a: HP:0000966 ! Hypohidrosis [Term] id: HP:0007481 name: Hyperpigmented nevi xref: UMLS:C0746889 is_a: HP:0000995 ! Melanocytic nevus [Term] id: HP:0007482 name: Generalized papillary lesions xref: UMLS:C4024865 is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0007483 name: Depigmentation/hyperpigmentation of skin xref: UMLS:C4024864 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007485 name: Absence of subcutaneous fat def: "Lack of subcutaneous adipose tissue." [HPO:probinson] synonym: "Absent fat below the skin" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "General absence of subcutaneous fat" EXACT [] xref: UMLS:C0241267 is_a: HP:0008887 ! Adipose tissue loss [Term] id: HP:0007486 name: Cavernous hemangioma of the face xref: NCIT:C3086 xref: UMLS:C1332863 is_a: HP:0001048 ! Cavernous hemangioma [Term] id: HP:0007488 name: Diffuse skin atrophy xref: UMLS:C4024863 is_a: HP:0004334 ! Dermal atrophy [Term] id: HP:0007489 name: Diffuse telangiectasia alt_id: HP:0007405 def: "Telangiectases (small dilated blood vessels) with a diffuse localization." [HPO:curators] synonym: "Diffuse telangiectases" EXACT [] synonym: "Telangiectases, random body distribution" EXACT [] xref: SNOMEDCT_US:125279001 xref: UMLS:C1265776 is_a: HP:0001009 ! Telangiectasia [Term] id: HP:0007490 name: Linear arrays of macular hyperkeratoses in flexural areas xref: UMLS:C1866031 is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007494 name: Discrete 2 to 5-mm hyper- and hypopigmented macules xref: UMLS:C1851552 is_a: HP:0007441 ! Hyperpigmented/hypopigmented macules [Term] id: HP:0007495 name: Prematurely aged appearance alt_id: HP:0001599 synonym: "Precociously senile appearance" EXACT layperson [] synonym: "Prematurely aged appearance" EXACT layperson [] xref: UMLS:C1857656 is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0007497 name: Focal friction-related palmoplantar hyperkeratosis def: "Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction." [HPO:probinson] synonym: "Hyperkeratosis, palmoplantar, focal friction-related" EXACT [] xref: UMLS:C1835654 is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007499 name: Recurrent staphylococcal infections def: "Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections." [ORCID:0000-0001-7941-2961] synonym: "Recurrent staphylococcal infections" EXACT layperson [] xref: UMLS:C4024862 is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0007500 name: Decreased number of sweat glands alt_id: HP:0007555 alt_id: HP:0007594 def: "The presence of fewer than normal sweat glands." [HPO:probinson] synonym: "Decreased sweat glands" EXACT layperson [] synonym: "Decreased sweat pores" EXACT layperson [] xref: UMLS:C4021574 is_a: HP:0000971 ! Abnormal sweat gland morphology [Term] id: HP:0007501 name: Streaks of hyperkeratosis along each finger onto the palm xref: UMLS:C4024861 is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007502 name: Follicular hyperkeratosis alt_id: HP:0007600 def: "A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum." [HPO:probinson] subset: hposlim_core synonym: "Hyperkeratosis follicularis" EXACT [] xref: SNOMEDCT_US:238629004 xref: SNOMEDCT_US:402341008 xref: SNOMEDCT_US:81845009 xref: UMLS:C0334013 is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007503 name: Generalized ichthyosis xref: UMLS:C3552528 is_a: HP:0008064 ! Ichthyosis [Term] id: HP:0007504 name: Diffuse slow skin atrophy xref: UMLS:C4024860 is_a: HP:0007488 ! Diffuse skin atrophy [Term] id: HP:0007505 name: Progressive hyperpigmentation xref: UMLS:C4024859 is_a: HP:0000953 ! Hyperpigmentation of the skin [Term] id: HP:0007506 name: Congenital absence of skin of limbs synonym: "Missing skin on limbs since birth" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024858 is_a: HP:0007383 ! Congenital localized absence of skin [Term] id: HP:0007508 name: Punctate palmar hyperkeratosis def: "Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands." [] xref: UMLS:C4024857 is_a: HP:0010765 ! Palmar hyperkeratosis [Term] id: HP:0007509 name: Patchy hypo- and hyperpigmentation alt_id: HP:0007487 synonym: "Patchy hypo- and hyper-pigmentation" EXACT [] xref: UMLS:C4021573 is_a: HP:0009123 ! Mixed hypo- and hyperpigmentation of the skin [Term] id: HP:0007510 name: Focal dermal aplasia/hypoplasia xref: UMLS:C1834069 is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0007511 name: Mottled pigmentation of photoexposed areas xref: UMLS:C3151964 is_a: HP:0001070 ! Mottled pigmentation [Term] id: HP:0007513 name: Generalized hypopigmentation alt_id: HP:0000984 alt_id: HP:0007419 subset: hposlim_core synonym: "Fair skin" EXACT layperson [] synonym: "Pale pigmentation" EXACT layperson [] xref: UMLS:C1849923 is_a: HP:0001010 ! Hypopigmentation of the skin [Term] id: HP:0007514 name: Edema of the dorsum of hands alt_id: HP:0007528 def: "An abnormal accumulation of fluid beneath the skin on the back of the hands." [HPO:probinson] synonym: "Edema of dorsum of hands" EXACT [] xref: MEDDRA:10058204 "Oedema hands" xref: SNOMEDCT_US:443710002 xref: UMLS:C2732374 xref: UMLS:C2751873 is_a: HP:0000969 ! Edema [Term] id: HP:0007515 name: Hypoplastic pilosebaceous units xref: UMLS:C1832454 is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0007516 name: Redundant skin on fingers def: "Loose and sagging skin of the fingers." [HPO:probinson] synonym: "Extra skin on fingers" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024856 is_a: HP:0001582 ! Redundant skin [Term] id: HP:0007517 name: Palmoplantar cutis laxa alt_id: HP:0001016 def: "Loose, wrinkled skin of hands and feet." [HPO:probinson] synonym: "Excessive wrinkled skin of palms and soles" EXACT layperson [] synonym: "Furrowed palms and soles" EXACT [] synonym: "Increased wrinkles of palms and soles" EXACT layperson [] synonym: "Wrinkled palms and soles" EXACT layperson [] synonym: "Wrinkled skin of hands and feet" EXACT layperson [] xref: UMLS:C1856714 is_a: HP:0000973 ! Cutis laxa is_a: HP:0007605 ! Excessive wrinkling of palmar skin is_a: HP:0100872 ! Abnormality of the plantar skin of foot [Term] id: HP:0007519 name: Lack of subcutaneous fatty tissue synonym: "Lack of fatty tissue below the skin" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024855 is_a: HP:0008887 ! Adipose tissue loss [Term] id: HP:0007521 name: Irregular hyperpigmentation of back xref: UMLS:C4024854 is_a: HP:0007400 ! Irregular hyperpigmentation [Term] id: HP:0007522 name: Increased number of skin folds synonym: "Increased number of skin folds" EXACT layperson [] xref: UMLS:C4024853 is_a: HP:0008067 ! Abnormally lax or hyperextensible skin [Term] id: HP:0007524 name: Atypical neurofibromatosis xref: MSH:C537392 xref: UMLS:C0220695 is_a: HP:0001067 ! Neurofibromas [Term] id: HP:0007525 name: Yellow subcutaneous tissue covered by thin, scaly skin xref: UMLS:C1850533 is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue [Term] id: HP:0007526 name: Hypopigmented skin patches on arms synonym: "Hypopigmented skin patches on arms" EXACT [] synonym: "Patchy loss of skin color on arms" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4024852 is_a: HP:0001053 ! Hypopigmented skin patches [Term] id: HP:0007529 name: Hidrotic ectodermal dysplasia xref: MSH:D004476 xref: SNOMEDCT_US:54209007 xref: UMLS:C0162361 is_a: HP:0000968 ! Ectodermal dysplasia [Term] id: HP:0007530 name: Punctate palmoplantar hyperkeratosis xref: UMLS:C4024851 is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007534 name: Congenital posterior occipital alopecia def: "Loss of hair in the occipital region of the scalp with congenital onset." [HPO:probinson] xref: UMLS:C4024850 is_a: HP:0011361 ! Congenital abnormal hair pattern [Term] id: HP:0007535 name: Hypopigmented streaks xref: UMLS:C1866244 is_a: HP:0001010 ! Hypopigmentation of the skin [Term] id: HP:0007536 name: Aplasia cutis congenita of midline scalp vertex xref: UMLS:C4024849 is_a: HP:0004471 ! Aplasia cutis congenita over the scalp vertex [Term] id: HP:0007537 name: Severe photosensitivity def: "A severe degree of photosensitivity of the skin." [HPO:curators] synonym: "Severe sun sensitivity" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1849186 is_a: HP:0000992 ! Cutaneous photosensitivity [Term] id: HP:0007541 name: Frontal cutaneous lipoma def: "Presence of a cutaneous lipoma on the forehead." [HPO:probinson] xref: NCIT:C3192 xref: UMLS:C1850970 is_a: HP:0008069 ! Neoplasm of the skin is_a: HP:0012032 ! Lipoma [Term] id: HP:0007542 name: Absent pigmentation of the ventral chest def: "Lack of skin pigmentation (coloring) of the anterior chest." [HPO:probinson] xref: UMLS:C4024848 is_a: HP:0040007 ! Absent pigmentation of chest [Term] id: HP:0007543 name: Epidermal hyperkeratosis synonym: "Increased thickness of skin epidermis" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1848773 is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007544 name: Piebaldism def: "Piebaldism is characterized by stable and persistent, well-circumscribed depigmented patches present at birth affecting the skin of the face, trunk, and extremities in a symmetrical distribution." [HPO:probinson] xref: MSH:D016116 xref: SNOMEDCT_US:6479008 xref: SNOMEDCT_US:718122005 xref: UMLS:C0080024 is_a: HP:0001010 ! Hypopigmentation of the skin [Term] id: HP:0007545 name: Congenital palmoplantar keratosis xref: UMLS:C1855633 is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007546 name: Linear hyperpigmentation xref: UMLS:C3278658 is_a: HP:0007400 ! Irregular hyperpigmentation [Term] id: HP:0007548 name: Palmoplantar keratosis with erythema and scale xref: UMLS:C1843294 is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007549 name: Desquamation of skin soon after birth xref: UMLS:C1842714 is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0007550 name: Hypohidrosis or hyperhidrosis synonym: "Lack of sweating or excessive sweating" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021831 is_a: HP:0025276 ! Abnormality of skin adnexa physiology [Term] id: HP:0007552 name: Abnormal subcutaneous fat tissue distribution synonym: "Abnormal fat tissue distribution below the skin" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1859347 is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue [Term] id: HP:0007553 name: Congenital symmetrical palmoplantar keratosis xref: UMLS:C1855459 is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007554 name: Confetti hypopigmentation pattern of lower leg skin synonym: "Confetti hypopigmentation pattern of lower leg skin" EXACT layperson [] xref: UMLS:C4024847 is_a: HP:0001010 ! Hypopigmentation of the skin [Term] id: HP:0007556 name: Plantar hyperkeratosis alt_id: HP:0007382 alt_id: HP:0007445 def: "Hyperkeratosis affecting the sole of the foot." [HPO:probinson] synonym: "Plantar hyperkeratoses" EXACT [] xref: UMLS:C1856954 is_a: HP:0000962 ! Hyperkeratosis is_a: HP:0100872 ! Abnormality of the plantar skin of foot [Term] id: HP:0007559 name: Localized epidermolytic hyperkeratosis xref: MSH:D053546 xref: UMLS:C1721006 is_a: HP:0008064 ! Ichthyosis [Term] id: HP:0007560 name: Unusual dermatoglyphics xref: UMLS:C4024846 is_a: HP:0005882 ! Dermatoglyphic variants [Term] id: HP:0007561 name: Telangiectases in sun-exposed and nonexposed skin xref: UMLS:C1868184 is_a: HP:0100585 ! Telangiectasia of the skin [Term] id: HP:0007565 name: Multiple cafe-au-lait spots alt_id: HP:0007416 def: "The presence of six or more cafe-au-lait spots." [DDD:cmoss] synonym: "Multiple birthmarks" BROAD layperson [] synonym: "Multiple flat light-brown marks on skin" BROAD layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:C537421 xref: UMLS:C1861975 is_a: HP:0000957 ! Cafe-au-lait spot [Term] id: HP:0007566 name: Index finger dermatoglyphic radial loop xref: UMLS:C4024845 is_a: HP:0005882 ! Dermatoglyphic variants [Term] id: HP:0007569 name: Generalized seborrheic dermatitis def: "Seborrheic dermatitis that is not localized to any one particular region." [] synonym: "Generalized seborrheic eczema" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4024844 is_a: HP:0001051 ! Seborrheic dermatitis [Term] id: HP:0007570 name: Hyperkeratosis lenticularis perstans def: "Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa." [HPO:probinson] synonym: "Flegel disease" RELATED [] xref: MSH:C538377 xref: SNOMEDCT_US:28488007 xref: UMLS:C0263420 is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007572 name: Hyperpigmented streaks xref: UMLS:C1866245 is_a: HP:0007400 ! Irregular hyperpigmentation [Term] id: HP:0007573 name: Late onset atopic dermatitis def: "A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis." [PMID:23984225, PMID:27904186] synonym: "Late onset baby eczema" RELATED layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024843 xref: UMLS:C4280439 is_a: HP:0001047 ! Atopic dermatitis [Term] id: HP:0007574 name: Generalized bronze hyperpigmentation synonym: "Bronze skin" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C2939074 xref: UMLS:C4024842 is_a: HP:0007440 ! Generalized hyperpigmentation [Term] id: HP:0007576 name: Palmar neurofibromas xref: UMLS:C4024841 is_a: HP:0001067 ! Neurofibromas is_a: HP:0045010 ! Abnormality of peripheral nerves is_a: HP:0100871 ! Abnormality of the palm [Term] id: HP:0007581 name: Mediosternal, longitudinal streak of hypopigmentation xref: UMLS:C4024840 is_a: HP:0007535 ! Hypopigmented streaks [Term] id: HP:0007583 name: Telangiectasia macularis eruptiva perstans xref: SNOMEDCT_US:8214000 xref: UMLS:C0263402 is_a: HP:0001009 ! Telangiectasia [Term] id: HP:0007585 name: Skin fragility with non-scarring blistering xref: UMLS:C1851562 is_a: HP:0001030 ! Fragile skin [Term] id: HP:0007586 name: Telangiectases producing 'marbled' skin xref: UMLS:C4024839 is_a: HP:0100585 ! Telangiectasia of the skin [Term] id: HP:0007587 name: Numerous pigmented freckles synonym: "Numerous pigmented freckles" EXACT layperson [] xref: UMLS:C1968565 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007588 name: Reticular hyperpigmentation alt_id: HP:0007579 def: "Increased pigmentation of the skin with a netlike (reticular) pattern." [HPO:probinson] synonym: "Reticulate hyperpigmentation" EXACT [] xref: UMLS:C1851972 is_a: HP:0007400 ! Irregular hyperpigmentation [Term] id: HP:0007589 name: Aplasia cutis congenita on trunk or limbs def: "A developmental defect resulting in the congenital absence of skin on the trunk or the limbs." [HPO:curators] comment: In future versions of the HPO this term will be made obsolete and will be replaced by terms for Aplasia cutis congenita on trunk and a term for Aplasia cutis congenita on the limbs. xref: UMLS:C1863496 is_a: HP:0001057 ! Aplasia cutis congenita [Term] id: HP:0007590 name: Aplasia cutis congenita over posterior parietal area xref: UMLS:C1863495 is_a: HP:0004476 ! Aplasia cutis congenita over parietal area [Term] id: HP:0007592 name: Aplasia/Hypoplastia of the eccrine sweat glands def: "Absence or developmental hypoplasia of the eccrine sweat glands." [HPO:probinson] synonym: "Hypoplastic-absent eccrine sweat glands" EXACT [] xref: UMLS:C1844618 is_a: HP:0011135 ! Aplasia/Hypoplasia of the sweat glands [Term] id: HP:0007595 name: Redundant skin in infancy synonym: "Excess skin in infancy" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1835587 is_a: HP:0001582 ! Redundant skin [Term] id: HP:0007596 name: Painful subcutaneous lipomas def: "The presence of multiple subcutaneous lipoma that cause pain." [HPO:probinson] synonym: "Painful noncancerous fat tissue tumor under the skin" EXACT layperson [ORCID:0000-0002-6548-5200] xref: UMLS:C4024838 is_a: HP:0001031 ! Subcutaneous lipoma [Term] id: HP:0007597 name: Congenital palmoplantar keratodermia xref: UMLS:C4024837 is_a: HP:0000982 ! Palmoplantar keratoderma [Term] id: HP:0007598 name: Bilateral single transverse palmar creases def: "The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands." [HPO:probinson] xref: UMLS:C1862095 is_a: HP:0000954 ! Single transverse palmar crease [Term] id: HP:0007599 name: Generalized reticulate brown pigmentation xref: UMLS:C4024836 is_a: HP:0007440 ! Generalized hyperpigmentation [Term] id: HP:0007601 name: Midline facial capillary hemangioma xref: UMLS:C1840310 is_a: HP:0000996 ! Facial capillary hemangioma [Term] id: HP:0007602 name: Complex palmar dermatoglyphic pattern xref: UMLS:C4024835 is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0007603 name: Freckles in sun-exposed areas synonym: "Freckles in sun-exposed areas" EXACT layperson [] xref: UMLS:C1859923 is_a: HP:0005586 ! Hyperpigmentation in sun-exposed areas [Term] id: HP:0007605 name: Excessive wrinkling of palmar skin alt_id: HP:0007531 synonym: "Redundant, wrinkled skin of palms" EXACT layperson [] xref: UMLS:C4021572 is_a: HP:0007392 ! Excessive wrinkled skin is_a: HP:0040211 ! Abnormality of the skin of the palm [Term] id: HP:0007606 name: Multiple cutaneous malignancies xref: UMLS:C4024834 is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0007607 name: Hypohidrotic ectodermal dysplasia xref: MSH:D053358 xref: SNOMEDCT_US:239007005 xref: SNOMEDCT_US:7731005 xref: UMLS:C0162359 is_a: HP:0000968 ! Ectodermal dysplasia [Term] id: HP:0007608 name: Abnormal palmar dermal ridges xref: UMLS:C4024833 is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0007609 name: Hypoproteinemic edema def: "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia)." [HPO:curators] xref: UMLS:C4024832 is_a: HP:0000969 ! Edema [Term] id: HP:0007610 name: Blotching pigmentation of the skin xref: UMLS:C4024831 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007613 name: Spinous keratoses of palms and soles xref: UMLS:C4024830 is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007616 name: Nevus flammeus nuchae def: "Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns." [HPO:sdoelken] comment: The salmon patch is the most common capillary malformation, occurring in up to 50% of all neonates. It is a pinkish macule that typically affects the back of the neck (stork bite) or the glabella (angel's kiss), although it can affect the eyelids, the nose, the upper lip, and the sacral area. synonym: "Angel's kiss" RELATED layperson [ORCID:0000-0001-6908-9849] synonym: "Port-wine stain on neck" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Salmon patch" RELATED layperson [ORCID:0000-0001-6908-9849] synonym: "Stork bite" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C0860468 xref: UMLS:C4024829 xref: UMLS:C4280438 is_a: HP:0001052 ! Nevus flammeus [Term] id: HP:0007617 name: Fine, reticulate skin pigmentation xref: UMLS:C4024828 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007618 name: Subcutaneous calcification def: "Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument)." [HPO:probinson] subset: hposlim_core synonym: "Skin calcification" EXACT layperson [] xref: SNOMEDCT_US:17141001 xref: UMLS:C0263625 is_a: HP:0010766 ! Ectopic calcification is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0007620 name: Cutaneous leiomyoma alt_id: HP:0007507 def: "The presence of leiomyoma of the skin." [HPO:probinson] comment: Cutaneous leiomyomata are benign soft tissue neoplasms that arise from smooth muscle cells in the skin. synonym: "Cutaneous leiomyomas" EXACT [] synonym: "Cutaneous leiomyomata" EXACT [] xref: NCIT:C3157 xref: SNOMEDCT_US:254767008 xref: UMLS:C0346064 is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0007621 name: Telangiectasia of extensor surfaces xref: UMLS:C4024827 is_a: HP:0100585 ! Telangiectasia of the skin [Term] id: HP:0007623 name: Pigmentation anomalies of sun-exposed skin synonym: "Abnormal pigmentation in sun-exposed skin" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024826 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007626 name: Mandibular osteomyelitis alt_id: HP:0005869 def: "Osteomyelitis of the lower jaw." [] synonym: "Lower jaw bone infection" EXACT layperson [] synonym: "Osteomyelitis, especially of the mandible" EXACT [] xref: SNOMEDCT_US:109695005 xref: UMLS:C1290708 is_a: HP:0000277 ! Abnormality of the mandible is_a: HP:0002754 ! Osteomyelitis [Term] id: HP:0007627 name: Mandibular condyle aplasia synonym: "Absence of the condylar head of mandible" NARROW [ORCID:0000-0001-5889-4463] synonym: "Absence of the condylar neck of mandible" NARROW [ORCID:0000-0001-5889-4463] synonym: "Absence of the condylar process of mandible" NARROW [ORCID:0000-0001-5889-4463] synonym: "Agenesis of condylar head of mandible" RELATED [ORCID:0000-0001-5889-4463] synonym: "Agenesis of condylar neck of mandible" RELATED [ORCID:0000-0001-5889-4463] synonym: "Agenesis of condylar process of mandible" RELATED [ORCID:0000-0001-5889-4463] synonym: "Failure of development of condylar head of mandible" NARROW [ORCID:0000-0001-5889-4463] synonym: "Failure of development of condylar neck of mandible" NARROW [ORCID:0000-0001-5889-4463] synonym: "Failure of development of the condylar process of mandible" NARROW [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of condylar head of mandible" NARROW [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of condylar neck of mandible" NARROW [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of condylar process of mandible" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:235119009 xref: UMLS:C0399570 xref: UMLS:C4280429 xref: UMLS:C4280430 xref: UMLS:C4280431 xref: UMLS:C4280432 xref: UMLS:C4280433 xref: UMLS:C4280434 xref: UMLS:C4280435 xref: UMLS:C4280436 xref: UMLS:C4280437 is_a: HP:0005790 ! Short mandibular condyles [Term] id: HP:0007628 name: Mandibular condyle hypoplasia synonym: "Decreased size of condylar process of mandible" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased size of mandibular condyle" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypoplasia of condylar head of mandible" NARROW [ORCID:0000-0001-5889-4463] synonym: "Hypoplasia of condylar neck of mandible" NARROW [ORCID:0000-0001-5889-4463] synonym: "Hypoplasia of condylar process of mandible" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypoplasia of mandibular condyle" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypoplasia of subcondylar region of mandible" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypotrophic condylar process of mandible" RELATED [ORCID:0000-0001-5889-4463] synonym: "Hypotrophic mandibular condyle" RELATED [ORCID:0000-0001-5889-4463] synonym: "Small condylar head of mandible" NARROW [ORCID:0000-0001-5889-4463] synonym: "Small condylar neck of mandible" NARROW [ORCID:0000-0001-5889-4463] synonym: "Small mandibular condyle" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:235120003 xref: UMLS:C0399572 xref: UMLS:C4280423 xref: UMLS:C4280424 xref: UMLS:C4280425 xref: UMLS:C4280426 xref: UMLS:C4280427 xref: UMLS:C4280428 is_a: HP:0005790 ! Short mandibular condyles [Term] id: HP:0007633 name: Bilateral microphthalmos alt_id: HP:0001143 alt_id: HP:0001585 def: "A developmental anomaly characterized by abnormal smallness of both eyes." [HPO:curators] synonym: "Abnormally small eyeball on both sides" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Bilateral nanophthalmos" NARROW [ORCID:0000-0001-5889-4463] synonym: "Decreased size of eyeballs" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased size of globes of eyes" BROAD [ORCID:0000-0001-5889-4463] synonym: "Microphthalmia, bilateral" EXACT [] xref: UMLS:C1843496 xref: UMLS:C4280421 xref: UMLS:C4280422 is_a: HP:0000568 ! Microphthalmia [Term] id: HP:0007634 name: Nonarteritic anterior ischemic optic neuropathy def: "An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates." [HPO:probinson, pmid:17698200] comment: Nonarteritic anterior ischemic optic neuropathy is caused by infarction of the laminar or retrolaminar portion of the optic nerve head supplied by the short posterior ciliary arteries. Clinically NAION is characterized by sudden, usually painless, loss of vision in one or both eyes. Examination findings include decreased visual acuity, a visual field defect, decreased colour vision, a relative afferent pupillary defect, and optic disc swelling. xref: UMLS:C1852242 is_a: HP:0001138 ! Optic neuropathy [Term] id: HP:0007641 name: Dyschromatopsia def: "A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments." [DDD:ncarter] synonym: "Color blindness" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] xref: UMLS:C0858618 is_a: HP:0000551 ! Color vision defect [Term] id: HP:0007642 name: Congenital stationary night blindness alt_id: HP:0007684 alt_id: HP:0007861 alt_id: HP:0007953 def: "A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset." [HPO:probinson] comment: Congenital stationary night blindness is prinicipally the result of dysfunction of the rod photoreceptors. synonym: "Congenital night blindness" EXACT [] synonym: "Night blindness since birth" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Night blindness, congenital" RELATED [HPO:skoehler] synonym: "Night blindness, congenital stationary" RELATED [HPO:skoehler] synonym: "Night blindness, congenital stationary, complete" RELATED [HPO:skoehler] synonym: "Night blindness, stationary" RELATED [HPO:skoehler] synonym: "Static congenital hemeralopia" EXACT [] xref: MSH:C536122 xref: MSH:C537743 xref: SNOMEDCT_US:193687000 xref: SNOMEDCT_US:232061009 xref: UMLS:C0339535 xref: UMLS:C1306122 xref: UMLS:C3551052 xref: UMLS:C4048798 is_a: HP:0000556 ! Retinal dystrophy is_a: HP:0000662 ! Nyctalopia [Term] id: HP:0007643 name: Peripheral tractional retinal detachment def: "Tractional retinal detachment at the periphery of the retina." [] synonym: "Peripheral traction retinal detachment" EXACT [] synonym: "Tractional retinal detachment at the periphery of the retina" EXACT [] xref: UMLS:C4024825 is_a: HP:0007917 ! Tractional retinal detachment [Term] id: HP:0007646 name: Absent lower eyelashes def: "Lack of eyelashes on the lower lid." [HPO:probinson] synonym: "Absent lower eyelashes" EXACT layperson [] synonym: "Agenesis of lower eyelashes" NARROW [ORCID:0000-0001-5889-4463] synonym: "Aplasia of lower eyelashes" NARROW [ORCID:0000-0001-5889-4463] synonym: "Atrichia of lower eyelashes" EXACT [] synonym: "Failure of development of lower eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4024824 is_a: HP:0000561 ! Absent eyelashes [Term] id: HP:0007647 name: Congenital extraocular muscle anomaly def: "Congenital abnormality of the extraocular muscles." [HPO:probinson] xref: UMLS:C4024823 is_a: HP:0008049 ! Abnormality of the extraocular muscles [Term] id: HP:0007648 name: Punctate cataract def: "A type of cataract with punctate opacities of the lens." [HPO:probinson] synonym: "Punctate lenticular opacities" RELATED [] xref: SNOMEDCT_US:40714009 xref: UMLS:C0271165 xref: UMLS:C1969675 is_a: HP:0010920 ! Zonular cataract [Term] id: HP:0007649 name: Congenital hypertrophy of retinal pigment epithelium def: "Sharply demarcated, congenital hyperpigmentation of thr retinal pigment epithelium." [DDD:ncarter] comment: This feature is found in around 3-5% of the population and is of no functional significance. xref: SNOMEDCT_US:232074003 xref: UMLS:C0339555 is_a: HP:0011512 ! Hyperpigmentation of the fundus [Term] id: HP:0007650 name: Progressive ophthalmoplegia xref: UMLS:C2062713 is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0007651 name: Ectropion of lower eyelids synonym: "Everted lower eyelids" RELATED [] synonym: "Lower eyelid folded out" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Lower eyelid turned out" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:95758006 xref: UMLS:C0521736 xref: UMLS:C4020808 is_a: HP:0000656 ! Ectropion [Term] id: HP:0007654 name: obsolete Retinal striation is_obsolete: true [Term] id: HP:0007655 name: Eversion of lateral third of lower eyelids xref: UMLS:C1835801 is_a: HP:0000656 ! Ectropion [Term] id: HP:0007656 name: Lacrimal gland aplasia def: "A congenital defect of development characterized by absence of the lacrimal gland." [HPO:probinson] synonym: "Absent tear gland" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024822 is_a: HP:0008038 ! Aplastic/hypoplastic lacrimal glands [Term] id: HP:0007657 name: Diffuse nuclear cataract def: "Opacity of the entire lens nucleus." [HPO:probinson] xref: UMLS:C4024821 is_a: HP:0100018 ! Nuclear cataract [Term] id: HP:0007658 name: Large hyperpigmented retinal spots xref: UMLS:C4024820 is_a: HP:0011512 ! Hyperpigmentation of the fundus [Term] id: HP:0007659 name: obsolete Decreased retinal pigmentation with dispersion is_obsolete: true consider: HP:0007703 [Term] id: HP:0007661 name: Abnormality of chorioretinal pigmentation xref: UMLS:C4024819 is_a: HP:0000532 ! Abnormal chorioretinal morphology [Term] id: HP:0007663 name: Reduced visual acuity alt_id: HP:0001091 alt_id: HP:0007693 alt_id: HP:0007739 alt_id: HP:0007969 alt_id: HP:0008008 synonym: "Decreased central vision" EXACT [] synonym: "Decreased clarity of vision" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Decreased visual acuity" EXACT [] synonym: "Poor visual acuity" EXACT [] xref: SNOMEDCT_US:13164000 xref: UMLS:C0234632 is_a: HP:0000505 ! Visual impairment [Term] id: HP:0007665 name: Curly eyelashes def: "Abnormally curly or curved eyelashes." [HPO:curators] subset: hposlim_core synonym: "Curly eyelashes" EXACT layperson [] xref: UMLS:C2673670 is_a: HP:0000499 ! Abnormal eyelash morphology [Term] id: HP:0007667 name: Peripheral cystoid retinal degeneration def: "Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly." [ORCID:0000-0003-0986-4123] synonym: "Cystic retinal degeneration" EXACT [] synonym: "Peripheral cystoid degeneration" EXACT [] xref: UMLS:C1839362 is_a: HP:0007769 ! Peripheral retinal degeneration [Term] id: HP:0007668 name: Impaired pursuit initiation and maintenance xref: UMLS:C1969722 is_a: HP:0000617 ! Abnormality of ocular smooth pursuit [Term] id: HP:0007670 name: Abnormal vestibulo-ocular reflex def: "An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude." [HPO:probinson, pmid:3625219] synonym: "Abnormal vestibuloocular reflex" EXACT [] xref: UMLS:C4021571 is_a: HP:0001751 ! Vestibular dysfunction [Term] id: HP:0007675 name: Progressive night blindness synonym: "Progressive night blindness" EXACT layperson [] xref: UMLS:C4024818 is_a: HP:0000662 ! Nyctalopia [Term] id: HP:0007676 name: Hypoplasia of the iris alt_id: HP:0000638 alt_id: HP:0007724 alt_id: HP:0007998 def: "Congenital underdevelopment of the iris." [HPO:probinson] subset: hposlim_core synonym: "Hypoplastic iris" EXACT [] synonym: "Iris hypoplasia" EXACT [] synonym: "Underdeveloped iris" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:95714006 xref: UMLS:C0344539 is_a: HP:0008053 ! Aplasia/Hypoplasia of the iris [Term] id: HP:0007677 name: Vitelliform-like macular lesions alt_id: HP:0007878 def: "Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula." [DDD:gblack, pmid:18289629] synonym: "Vitelliform macular dystrophy" RELATED [] synonym: "Vitelliform macular lesions" EXACT [] xref: MSH:D057826 xref: SNOMEDCT_US:90036004 xref: UMLS:C0339510 xref: UMLS:C4024817 is_a: HP:0030500 ! Yellow/white lesions of the macula [Term] id: HP:0007678 name: Lacrimal duct stenosis alt_id: HP:0007669 def: "Narrowing of a tear duct (lacrimal duct)." [HPO:probinson] synonym: "Narrowing of the tear duct" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Nasolacrimal duct stenosis" EXACT [] xref: SNOMEDCT_US:231841004 xref: UMLS:C0238300 is_a: HP:0000579 ! Nasolacrimal duct obstruction [Term] id: HP:0007680 name: Depigmented fundus xref: UMLS:C4024816 is_a: HP:0007894 ! Hypopigmentation of the fundus [Term] id: HP:0007685 name: Peripheral retinal avascularization xref: UMLS:C1851406 is_a: HP:0008046 ! Abnormal retinal vascular morphology [Term] id: HP:0007686 name: Abnormal pupillary function def: "A functional abnormality of the pupil." [HPO:probinson] comment: It is preferable to describe the functional defect precisely. xref: MSH:D011681 xref: SNOMEDCT_US:72124005 xref: UMLS:C0917967 is_a: HP:0012373 ! Abnormal eye physiology [Term] id: HP:0007687 name: Unilateral ptosis def: "A unilateral form of ptosis." [HPO:probinson] synonym: "Dropping of one upper eyelid" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1866806 is_a: HP:0000508 ! Ptosis [Term] id: HP:0007688 name: Undetectable light- and dark-adapted electroretinogram alt_id: HP:0003230 alt_id: HP:0008280 def: "Absence of the combined rod-and-code response on electroretinogram." [HPO:probinson] synonym: "Absent cone and rod functions by electroretinogram" EXACT [] synonym: "Absent rod-and cone-mediated responses on ERG" EXACT [] xref: UMLS:C4021570 is_a: HP:0008323 ! Abnormal light- and dark-adapted electroretinogram [Term] id: HP:0007690 name: Map-dot-fingerprint corneal dystrophy xref: SNOMEDCT_US:32935005 xref: UMLS:C0271285 is_a: HP:0200020 ! Corneal erosion [Term] id: HP:0007691 name: obsolete Short curly eyelashes is_obsolete: true consider: HP:0007665 consider: HP:0010764 [Term] id: HP:0007692 name: obsolete Nonnuclear polymorphic congenital cataract is_obsolete: true replaced_by: HP:0000519 [Term] id: HP:0007695 name: Abnormal pupillary light reflex def: "An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye." [HPO:probinson] xref: UMLS:C1970591 is_a: HP:0007686 ! Abnormal pupillary function [Term] id: HP:0007697 name: Hypoplasia of the lower eyelids def: "Underdevelopment of the lower eyelid." [HPO:probinson] synonym: "Decreased size of lower eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Hypotrophic lower eyelid" RELATED [ORCID:0000-0001-5889-4463] synonym: "Short lower eyelid" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Small lower eyelid" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of lower eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4024814 xref: UMLS:C4280270 xref: UMLS:C4280420 is_a: HP:0430009 ! Hypoplasia of eyelid [Term] id: HP:0007698 name: obsolete Retinal pigment epithelial atrophy is_obsolete: true [Term] id: HP:0007700 name: Ocular anterior segment dysgenesis alt_id: HP:0007696 alt_id: HP:0007699 alt_id: HP:0008040 def: "Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin." [DDD:ncarter] comment: In anterior segment mesenchymal ocular dysgenesis (ASMOD), multiple tissues are affected, including the iris, cornea, and lens as well as the Schlemm's canal and trabecular meshwork drainage structures located at the anterior segment angle where the iris and cornea meet. These abnormalities may result from a primary defect in the migration and/or differentiation of the mesenchymal cells that contribute to development of the cornea, iris, and drainage structures. synonym: "Anterior chamber cleavage defect" EXACT [] synonym: "Anterior chamber cleavage disorder" EXACT [] synonym: "Anterior chamber malformation" EXACT [] synonym: "Anterior chamber mesodermal anomalies" EXACT [] synonym: "Anterior segment developmental abnormality" EXACT [] synonym: "Anterior segment dysgenesis" EXACT [] synonym: "Anterior segment mesencyhmal dysgenesis" EXACT [] synonym: "Anterior segment ocular dysgenesis" EXACT [] xref: SNOMEDCT_US:65075004 xref: UMLS:C0266525 is_a: HP:0004328 ! Abnormal anterior eye segment morphology [Term] id: HP:0007702 name: obsolete Pigmentary retinal deposits is_obsolete: true replaced_by: HP:0000580 [Term] id: HP:0007703 name: Abnormality of retinal pigmentation alt_id: HP:0007741 alt_id: HP:0007743 alt_id: HP:0008051 synonym: "Abnormal retinal pigmentation" EXACT [] synonym: "Abnormality of retinal pigment epithelium" EXACT [] synonym: "Abnormality of RPE" EXACT [] synonym: "Abnormality of the retinal pigment epithelium" RELATED [] synonym: "Retinal pigmentary anomaly" EXACT [] xref: SNOMEDCT_US:421689001 xref: UMLS:C1720508 xref: UMLS:C1862475 is_a: HP:0000479 ! Abnormal retinal morphology [Term] id: HP:0007704 name: Paroxysmal involuntary eye movements def: "Sudden-onset episode of abnormal, involuntary eye movements." [HPO:probinson] synonym: "Abnormal eye movements, paroxysmal" EXACT [] xref: UMLS:C1847515 is_a: HP:0012547 ! Abnormal involuntary eye movements [Term] id: HP:0007705 name: Corneal degeneration xref: SNOMEDCT_US:111521006 xref: UMLS:C0155118 is_a: HP:0000481 ! Abnormal cornea morphology [Term] id: HP:0007707 name: Congenital aphakia def: "Absence of the crystalline lens of the eye as a result of a developmental defect." [HPO:probinson] synonym: "Lens agenesis" EXACT [] xref: MSH:C537786 xref: UMLS:C1853230 is_a: HP:0008063 ! Aplasia/Hypoplasia of the lens [Term] id: HP:0007708 name: Absent inner eyelashes synonym: "Absent inner eyelashes" EXACT layperson [] xref: UMLS:C4024812 is_a: HP:0000561 ! Absent eyelashes [Term] id: HP:0007709 name: Band-shaped corneal dystrophy xref: MSH:C562399 xref: SNOMEDCT_US:35055000 xref: UMLS:C0155120 is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007710 name: Peripheral vitreous opacities xref: UMLS:C4024811 is_a: HP:0004327 ! Abnormal vitreous humor morphology [Term] id: HP:0007712 name: obsolete Choroidal dystrophy is_obsolete: true consider: HP:0001135 [Term] id: HP:0007713 name: obsolete Juvenile zonular cataracts is_obsolete: true replaced_by: HP:0010920 [Term] id: HP:0007715 name: Weak extraocular muscles xref: UMLS:C1859436 is_a: HP:0000597 ! Ophthalmoparesis [Term] id: HP:0007716 name: Uveal melanoma def: "A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid)." [HPO:curators] comment: WIth intraocular melanoma, the melanoma originates from melanocytic cells in the uveal layer, comprising the iris, ciliary body, and choroid. synonym: "Intraocular melanoma" EXACT [] xref: MSH:C536494 xref: NCIT:C3224 xref: UMLS:C0220633 is_a: HP:0002861 ! Melanoma is_a: HP:0100012 ! Neoplasm of the eye [Term] id: HP:0007717 name: Chronic irritative conjunctivitis def: "A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes." [HPO:curators] xref: UMLS:C4024810 is_a: HP:0000509 ! Conjunctivitis [Term] id: HP:0007720 name: Flat cornea def: "Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age." [HPO:probinson] synonym: "Cornea plana" EXACT [] xref: SNOMEDCT_US:204145006 xref: UMLS:C0344529 is_a: HP:0100691 ! Abnormality of the curvature of the cornea [Term] id: HP:0007721 name: Saccular conjunctival dilatations def: "Presence of multiple dilatations (sac-like outpouchings) in the blood vessels of the conjunctiva." [HPO:probinson] synonym: "Saccular conjunctival aneurysms" NARROW [] xref: UMLS:C3277464 is_a: HP:0008054 ! Abnormal morphology of the conjunctival vasculature [Term] id: HP:0007722 name: Retinal pigment epithelial atrophy alt_id: HP:0007698 alt_id: HP:0008017 def: "Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging." [HPO:probinson] xref: UMLS:C1840457 is_a: HP:0001105 ! Retinal atrophy [Term] id: HP:0007727 name: Opacification of the corneal epithelium def: "Lack of transparency of the corneal epithelium." [DDD:gblack] synonym: "Superficial corneal opacities" EXACT [] xref: UMLS:C1849198 is_a: HP:0007957 ! Corneal opacity [Term] id: HP:0007728 name: Congenital miosis def: "Abnormal (non-physiological) constriction of the pupil of congenital onset." [HPO:probinson] xref: MSH:C537550 xref: SNOMEDCT_US:400962005 xref: UMLS:C1303009 is_a: HP:0000616 ! Miosis [Term] id: HP:0007730 name: Iris hypopigmentation def: "An abnormal reduction in the amount of pigmentation of the iris." [HPO:probinson] synonym: "Light eye color" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Reduced iris pigmentation" EXACT [] xref: SNOMEDCT_US:247032003 xref: SNOMEDCT_US:70397008 xref: UMLS:C0154920 is_a: HP:0008034 ! Abnormal iris pigmentation [Term] id: HP:0007731 name: Chorioretinal dysplasia def: "Abnormal development of the choroid and retina." [HPO:probinson] xref: UMLS:C4024809 is_a: HP:0000532 ! Abnormal chorioretinal morphology [Term] id: HP:0007732 name: Lacrimal gland hypoplasia def: "Underdevelopment of the lacrimal gland." [HPO:probinson] synonym: "Hypoplastic lacrimal gland" EXACT [] synonym: "Underdeveloped tear gland" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1863200 is_a: HP:0008038 ! Aplastic/hypoplastic lacrimal glands [Term] id: HP:0007733 name: Laterally curved eyebrow xref: UMLS:C1846266 is_a: HP:0000534 ! Abnormal eyebrow morphology [Term] id: HP:0007734 name: Enlarged lacrimal glands def: "Abnormally big lacrimal glands." [HPO:probinson] synonym: "Enlarged tear gland" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1867030 is_a: HP:0011482 ! Abnormal lacrimal gland morphology [Term] id: HP:0007736 name: obsolete Pericentral retinal dystrophy is_obsolete: true [Term] id: HP:0007737 name: Bone spicule pigmentation of the retina alt_id: HP:0007644 alt_id: HP:0007683 alt_id: HP:0007823 def: "Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone)." [HPO:probinson] synonym: "Bone corpuscle fundus pigmentation" EXACT [] synonym: "Fundus with peripheral bony spicules" EXACT [] synonym: "Retinal 'bone corpuscle' pigmentation" RELATED [HPO:skoehler] synonym: "Retinal bone corpuscle pigmentation" EXACT [] synonym: "Retinal pigmented bone spicules" EXACT [] xref: UMLS:C1836926 is_a: HP:0000580 ! Pigmentary retinopathy [Term] id: HP:0007738 name: Uncontrolled eye movements xref: UMLS:C1854686 is_a: HP:0012547 ! Abnormal involuntary eye movements [Term] id: HP:0007739 name: obsolete Mildly reduced visual acuity is_obsolete: true replaced_by: HP:0007663 [Term] id: HP:0007740 name: Long eyelashes in irregular rows synonym: "Long eyelashes in irregular rows" EXACT layperson [] xref: UMLS:C1850640 is_a: HP:0000527 ! Long eyelashes [Term] id: HP:0007744 name: obsolete Iridoretinal coloboma is_obsolete: true consider: HP:0000612 [Term] id: HP:0007747 name: Monocular horizontal nystagmus xref: UMLS:C4024807 is_a: HP:0000666 ! Horizontal nystagmus [Term] id: HP:0007748 name: obsolete Irido-fundal coloboma is_obsolete: true consider: HP:0000612 [Term] id: HP:0007750 name: Hypoplasia of the fovea def: "Underdevelopment of the fovea centralis." [HPO:probinson] comment: A dull foveal reflex is an unusual reflex of the foveal region on fundoscopy that may indicate hypoplasia of the fovea. synonym: "Dull foveal reflex" RELATED [] synonym: "Foveal hypoplasia" EXACT [] xref: UMLS:C2673946 xref: UMLS:C4072863 is_a: HP:0008060 ! Aplasia/Hypoplasia of the fovea [Term] id: HP:0007754 name: Macular dystrophy alt_id: HP:0007638 alt_id: HP:0007798 alt_id: HP:0007914 alt_id: HP:0007919 alt_id: HP:0007999 def: "Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident." [HPO:probinson] subset: hposlim_core xref: UMLS:C0730292 is_a: HP:0000556 ! Retinal dystrophy is_a: HP:0001103 ! Abnormal macular morphology [Term] id: HP:0007755 name: Juvenile epithelial corneal dystrophy xref: MSH:D053559 xref: SNOMEDCT_US:1674008 xref: UMLS:C0339277 is_a: HP:0200020 ! Corneal erosion [Term] id: HP:0007756 name: obsolete Slitlike anterior chamber angles in children is_obsolete: true replaced_by: HP:0000594 [Term] id: HP:0007757 name: obsolete Hypoplasia of choroid is_obsolete: true replaced_by: HP:0000610 [Term] id: HP:0007758 name: obsolete Congenital visual impairment is_obsolete: true replaced_by: HP:0000505 [Term] id: HP:0007759 name: Opacification of the corneal stroma alt_id: HP:0000515 alt_id: HP:0007662 alt_id: HP:0007896 alt_id: HP:0007966 def: "Reduced transparency of the stroma of cornea." [DDD:gblack] synonym: "Cloudy cornea" EXACT [] synonym: "Cloudy corneas" RELATED [HPO:skoehler] synonym: "Corneal stromal opacity" EXACT [] xref: SNOMEDCT_US:246957002 xref: UMLS:C0423250 xref: UMLS:C1856661 is_a: HP:0007957 ! Corneal opacity is_a: HP:0011492 ! Abnormality of corneal stroma [Term] id: HP:0007760 name: Crystalline corneal dystrophy xref: MSH:C535475 xref: SNOMEDCT_US:39662004 xref: SNOMEDCT_US:419395007 xref: UMLS:C0271287 is_a: HP:0007856 ! Punctate opacification of the cornea [Term] id: HP:0007761 name: Pericentral scotoma def: "A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point." [HPO:probinson] xref: SNOMEDCT_US:404650002 xref: UMLS:C1321308 is_a: HP:0000575 ! Scotoma [Term] id: HP:0007763 name: Retinal telangiectasia def: "Dilatation of small blood vessels of the retina." [HPO:probinson] subset: hposlim_core xref: SNOMEDCT_US:84884003 xref: UMLS:C0154835 is_a: HP:0001009 ! Telangiectasia is_a: HP:0008046 ! Abnormal retinal vascular morphology [Term] id: HP:0007765 name: Deep anterior chamber def: "Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased." [HPO:probinson] comment: Deep anterior chamber can be seen in disorders such as congenital microphakia and buphthalmos. xref: SNOMEDCT_US:246991003 xref: UMLS:C0423280 is_a: HP:0000593 ! Abnormal anterior chamber morphology [Term] id: HP:0007766 name: Optic disc hypoplasia alt_id: HP:0007794 alt_id: HP:0007890 def: "Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve." [HPO:probinson] synonym: "Hypoplastic optic disks" EXACT [] xref: SNOMEDCT_US:373650004 xref: UMLS:C1298695 is_a: HP:0008058 ! Aplasia/Hypoplasia of the optic nerve [Term] id: HP:0007768 name: Central retinal vessel vascular tortuosity alt_id: HP:0008015 def: "The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules)." [HPO:probinson] synonym: "Tortuosity of main retinal vessels" EXACT [] xref: UMLS:C4021569 is_a: HP:0000631 ! Retinal arterial tortuosity [Term] id: HP:0007769 name: Peripheral retinal degeneration alt_id: HP:0007782 alt_id: HP:0007805 xref: SNOMEDCT_US:405721006 xref: SNOMEDCT_US:61536007 xref: UMLS:C1320640 is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0007770 name: Hypoplasia of the retina synonym: "Retinal hypoplasia" EXACT [] synonym: "Underdeveloped retina" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1854685 is_a: HP:0008061 ! Aplasia/Hypoplasia of the retina [Term] id: HP:0007772 name: Impaired smooth pursuit alt_id: HP:0008029 def: "An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion." [HPO:probinson] subset: hposlim_core synonym: "Abnormal visual pursuit" RELATED [] synonym: "Abnormality of visual tracking" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Impairment of visual pursuit" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] xref: UMLS:C1837458 xref: UMLS:C1848530 is_a: HP:0000617 ! Abnormality of ocular smooth pursuit [Term] id: HP:0007773 name: Vitreoretinopathy alt_id: HP:0000655 def: "Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment." [HPO:probinson, ORCID:0000-0003-0986-4123, PMID:18179896] synonym: "Vitreoretinal abnormality" EXACT [] synonym: "Vitreoretinal degeneration" EXACT [] xref: UMLS:C1850109 is_a: HP:0004327 ! Abnormal vitreous humor morphology [Term] id: HP:0007774 name: Hypoplasia of the ciliary body def: "Underdevelopment of the ciliary body." [HPO:probinson] xref: UMLS:C1836890 is_a: HP:0008055 ! Aplasia/Hypoplasia affecting the uvea is_a: HP:0012776 ! Abnormal ciliary body morphology [Term] id: HP:0007776 name: Sparse lower eyelashes alt_id: HP:0007785 synonym: "Hypotrichosis of lower eyelashes" EXACT [ORCID:0000-0001-5889-4463] synonym: "Partial absence of lower eyelashes" EXACT [] synonym: "Scanty lower eyelashes" EXACT layperson [] synonym: "Sparse lower eyelashes" EXACT layperson [] synonym: "Thin lower eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1835148 is_a: HP:0000653 ! Sparse eyelashes is_a: HP:0040052 ! Abnormality of lower eyelashes [Term] id: HP:0007777 name: Chorioretinal scar def: "Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye." [] xref: SNOMEDCT_US:53854005 xref: UMLS:C0008512 is_a: HP:0100699 ! Scarring is_a: HP:0200065 ! Chorioretinal degeneration [Term] id: HP:0007778 name: Posterior retinal neovascularization def: "A type of retinal neovascularization that affects the posterior pole of the retina." [HPO:probinson] synonym: "Neovascularization of peripheral and posterior retina" EXACT [] synonym: "Posterior retinal neovascularisation" EXACT [] xref: UMLS:C4024803 is_a: HP:0030666 ! Retinal neovascularization [Term] id: HP:0007779 name: Anterior segment of eye aplasia xref: UMLS:C1853234 is_a: HP:0008062 ! Aplasia/Hypoplasia affecting the anterior segment of the eye [Term] id: HP:0007780 name: Cortical pulverulent cataract def: "A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens." [HPO:probinson] synonym: "Cataracts, cortical pulverulent" EXACT [] xref: UMLS:C4021568 is_a: HP:0010693 ! Pulverulent cataract [Term] id: HP:0007782 name: obsolete Peripheral retinal cone degeneration is_obsolete: true replaced_by: HP:0007769 [Term] id: HP:0007783 name: obsolete Butterfly retinal pigment epithelial dystrophy is_obsolete: true consider: HP:0000556 [Term] id: HP:0007786 name: obsolete Lacunar retinal depigmentation is_obsolete: true [Term] id: HP:0007787 name: Posterior subcapsular cataract alt_id: HP:0007666 alt_id: HP:0007857 def: "A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule." [HPO:probinson] synonym: "Posterior subcapsular cataracts" RELATED [HPO:skoehler] synonym: "Posterior subcapsular opacities of the lens" EXACT [] xref: SNOMEDCT_US:315353005 xref: UMLS:C0858617 is_a: HP:0000523 ! Subcapsular cataract [Term] id: HP:0007791 name: Patchy atrophy of the retinal pigment epithelium def: "Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas." [] xref: UMLS:C4024800 is_a: HP:0007722 ! Retinal pigment epithelial atrophy [Term] id: HP:0007792 name: Microsaccadic pursuit xref: UMLS:C1843892 is_a: HP:0001152 ! Saccadic smooth pursuit [Term] id: HP:0007793 name: Granular macular appearance def: "Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea." [HPO:probinson] synonym: "Macular retinal pigment epithelial mottling" EXACT [] xref: UMLS:C4024799 is_a: HP:0007814 ! Retinal pigment epithelial mottling is_a: HP:0008002 ! Abnormality of macular pigmentation [Term] id: HP:0007795 name: Anterior cortical cataract def: "A cataract that affects the anterior part of the cortex of the lens." [HPO:probinson] xref: UMLS:C1857308 is_a: HP:0100019 ! Cortical cataract [Term] id: HP:0007797 name: Retinal vascular malformation xref: UMLS:C1861791 is_a: HP:0008046 ! Abnormal retinal vascular morphology [Term] id: HP:0007798 name: obsolete Foveal dystrophy is_obsolete: true consider: HP:0000493 [Term] id: HP:0007799 name: Conjunctival whitish salt-like deposits def: "The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis." [HPO:probinson] xref: UMLS:C1968901 is_a: HP:0000502 ! Abnormal conjunctiva morphology [Term] id: HP:0007800 name: Increased axial length of the globe def: "Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean." [DDD:ncarter] synonym: "Globe elongated" EXACT [] synonym: "Increased axial globe length" EXACT [] synonym: "Increased front to back length of eyeball" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1835117 is_a: HP:0001090 ! Abnormally large globe [Term] id: HP:0007801 name: obsolete Fishnet retinal pigmentation is_obsolete: true consider: HP:0007703 [Term] id: HP:0007802 name: Granular corneal dystrophy def: "The presence of central, fine, whitish granular lesions in the stroma of the cornea. This type of corneal dystrophy is usually asymptomatic and begins in childhood and shows a slow progression. Later in the course, the corneal epithelium and Bowman's layer may be affected. Histologically, the cornea shows a uniform deposition of hyaline material." [HPO:curators] xref: MSH:D003317 xref: SNOMEDCT_US:45283008 xref: UMLS:C0018179 is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007803 name: Monochromacy alt_id: HP:0007954 def: "Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray." [DDD:gblack] comment: Rod monochromacy is the condition of having only rods in the retina. A rod monochromat is truly unable to see any color and can see only shades of grey. synonym: "Complete achromatopsia" EXACT [] synonym: "Total colorblindness" RELATED layperson [HPO:skoehler] xref: MSH:C536128 xref: MSH:D003117 xref: SNOMEDCT_US:56852002 xref: UMLS:C0152200 xref: UMLS:C1857618 is_a: HP:0000551 ! Color vision defect [Term] id: HP:0007807 name: Optic nerve compression alt_id: HP:0008495 xref: SNOMEDCT_US:72983001 xref: UMLS:C0271344 is_a: HP:0000587 ! Abnormality of the optic nerve is_a: HP:0001293 ! Cranial nerve compression [Term] id: HP:0007808 name: obsolete Bilateral retinal coloboma is_obsolete: true replaced_by: HP:0000480 [Term] id: HP:0007809 name: Punctate corneal dystrophy xref: UMLS:C4024796 is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007810 name: obsolete Progressive bifocal chorioretinal atrophy is_obsolete: true consider: HP:0000533 [Term] id: HP:0007811 name: Horizontal pendular nystagmus alt_id: HP:0200069 def: "Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity." [HPO:probinson] comment: Pendular nystagmus refers to the situation in which the eye appeared to oscillate with equal speed in either direction, in contrast to jerk nystagmus, in which the movement in one direction is faster than in the other. synonym: "Nystagmus, congenital horizontal" EXACT [] xref: UMLS:C1866180 is_a: HP:0000666 ! Horizontal nystagmus is_a: HP:0006934 ! Congenital nystagmus is_a: HP:0012043 ! Pendular nystagmus [Term] id: HP:0007812 name: Herpetiform corneal ulceration def: "The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining." [HPO:probinson] synonym: "Dendritic corneal epithelial ulcer" EXACT [] synonym: "Herpetiform corneal ulcers" EXACT [] xref: UMLS:C4020911 is_a: HP:0012804 ! Corneal ulceration [Term] id: HP:0007813 name: Nongranulomatous uveitis def: "A form of uveitis that is not associated with the formation of granulomas." [HPO:probinson] xref: UMLS:C4024795 is_a: HP:0000554 ! Uveitis [Term] id: HP:0007814 name: Retinal pigment epithelial mottling alt_id: HP:0001124 def: "Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium." [HPO:probinson] synonym: "Focal hypopigmentation of the retinal pigment epithelium" EXACT [] synonym: "Retinal pigment epithelium irregularity" EXACT [] synonym: "RPE irregularity" EXACT HP:0045077 [] synonym: "RPE mottling" EXACT HP:0045077 [] synonym: "Salt and pepper retinal pigmentation" EXACT [] synonym: "Salt and pepper retinopathy" EXACT [] xref: UMLS:C1857644 is_a: HP:0007703 ! Abnormality of retinal pigmentation [Term] id: HP:0007815 name: Abnormal distribution of retinal arterioles and venules xref: UMLS:C3277463 is_a: HP:0008046 ! Abnormal retinal vascular morphology [Term] id: HP:0007817 name: Horizontal supranuclear gaze palsy def: "A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal." [HPO:probinson] xref: UMLS:C4024794 is_a: HP:0000605 ! Supranuclear gaze palsy [Term] id: HP:0007818 name: Central heterochromia def: "The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone." [HPO:probinson] synonym: "Ring iris heterochromia" EXACT [] xref: UMLS:C4021567 is_a: HP:0001100 ! Heterochromia iridis [Term] id: HP:0007819 name: Presenile cataracts alt_id: HP:0007848 def: "Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual." [HPO:probinson, pmid:17030721] comment: Presenile cataract is rare. Some cases have a hereditary cause; others result from trauma or chromosomal, endocrine, metabolic, or systemic disorders. Many cases are idiopathic. The term 'presenile' is used differently in the literature. The HPO defines it to mean a cataract that is diagnosed after the age of 20 years but before old age. synonym: "Presenile cataract" EXACT [] xref: SNOMEDCT_US:441622000 xref: UMLS:C0154971 is_a: HP:0000518 ! Cataract [Term] id: HP:0007820 name: Lacrimal punctal atresia def: "Congenital absence or closure of the opening of the lacrimal punctum." [HPO:probinson] synonym: "Atretic lacrimal puncta" EXACT HP:0045078 [] synonym: "Atretic lacrimal punctum" EXACT [] xref: UMLS:C1863201 is_a: HP:0011479 ! Abnormal lacrimal punctum morphology [Term] id: HP:0007822 name: Central retinal exudate xref: UMLS:C4024793 is_a: HP:0001147 ! Retinal exudate [Term] id: HP:0007824 name: Total ophthalmoplegia def: "Paralysis of both the extrinsic and intrinsic ocular muscles." [HPO:probinson] synonym: "Complete ophthalmoplegia" EXACT [] synonym: "Global paralysis of gaze" EXACT [] synonym: "Total internal and external ophthalmoplegia" EXACT [] xref: SNOMEDCT_US:78097002 xref: UMLS:C0155338 is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0007825 name: obsolete Cataracts develop in second or third decade is_obsolete: true replaced_by: HP:0000518 [Term] id: HP:0007827 name: Nodular corneal dystrophy xref: UMLS:C4024792 is_a: HP:0011494 ! Generalized opacification of the cornea [Term] id: HP:0007829 name: obsolete Diffuse retinal cone degeneration is_obsolete: true consider: HP:0000546 [Term] id: HP:0007830 name: Adult-onset night blindness def: "Inability to see well at night or in poor light with onset in adulthood." [HPO:probinson] synonym: "Adult-onset night blindness" EXACT layperson [] xref: UMLS:C4024790 is_a: HP:0000662 ! Nyctalopia [Term] id: HP:0007831 name: Nonprogressive restrictive external ophthalmoplegia alt_id: HP:0007682 def: "Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited." [HPO:probinson] xref: UMLS:C4024789 is_a: HP:0000544 ! External ophthalmoplegia [Term] id: HP:0007832 name: Pigmentation of the sclera synonym: "Pigmentation of the outer white part of the eyeball" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1859882 is_a: HP:0000591 ! Abnormal sclera morphology [Term] id: HP:0007833 name: Anterior chamber synechiae xref: UMLS:C4024788 is_a: HP:0000593 ! Abnormal anterior chamber morphology [Term] id: HP:0007834 name: Progressive cataract alt_id: HP:0007828 def: "A kind of cataract that progresses with age." [HPO:probinson] synonym: "Cataract, progressive" EXACT [] xref: UMLS:C4021566 is_a: HP:0000518 ! Cataract [Term] id: HP:0007835 name: S-shaped palpebral fissures synonym: "S-shaped eyes" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "S-shaped opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4024787 is_a: HP:0200005 ! Abnormal shape of the palpebral fissure [Term] id: HP:0007836 name: Mosaic corneal dystrophy xref: UMLS:C4024786 is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007838 name: Progressive ptosis def: "A progressive form of ptosis." [HPO:probinson] synonym: "Progressive drooping of upper eyelid" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1834015 is_a: HP:0000508 ! Ptosis [Term] id: HP:0007840 name: Long upper eyelashes def: "Increased length of the upper eyelashes." [HPO:probinson] synonym: "Ciliary trichomegaly of upper eyelashes" EXACT [] synonym: "Increased length of upper eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Long upper eyelashes" EXACT layperson [] xref: UMLS:C4024785 is_a: HP:0000527 ! Long eyelashes is_a: HP:0040051 ! Abnormality of upper eyelashes [Term] id: HP:0007841 name: Amyloid deposition in the vitreous humor def: "Deposition of hyaline extracellular material (amyloid) into the vitreous humor, which can manifest as vitreous opacities and reduced visual acuity." [HPO:probinson] synonym: "Vitreous amyloid deposits" EXACT [] xref: UMLS:C4024784 is_a: HP:0004327 ! Abnormal vitreous humor morphology [Term] id: HP:0007843 name: Attenuation of retinal blood vessels synonym: "Narrowing of blood vessels in back of eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C3278975 is_a: HP:0008046 ! Abnormal retinal vascular morphology [Term] id: HP:0007850 name: Retinal vascular proliferation xref: MSH:D015861 xref: SNOMEDCT_US:61267008 xref: UMLS:C0035320 is_a: HP:0008046 ! Abnormal retinal vascular morphology [Term] id: HP:0007851 name: obsolete Temporal displacement of maculae is_obsolete: true consider: HP:0001103 [Term] id: HP:0007852 name: obsolete Pericentral pigmentary retinopathy is_obsolete: true replaced_by: HP:0000580 [Term] id: HP:0007854 name: Glaucomatous visual field defect xref: SNOMEDCT_US:370961005 xref: UMLS:C1299694 is_a: HP:0001123 ! Visual field defect [Term] id: HP:0007856 name: Punctate opacification of the cornea alt_id: HP:0008004 def: "Punctate opacification (reduced transparency) of the corneal stroma." [DDD:gblack] synonym: "Punctate corneal opacities" EXACT [] xref: UMLS:C4021565 is_a: HP:0007759 ! Opacification of the corneal stroma [Term] id: HP:0007858 name: Chorioretinal lacunae alt_id: HP:0007786 def: "Punched out lesions in the pigmented layer of the retina." [HPO:probinson] comment: A chorioretinal lacuna can have the appearance of a pseudodisk in the retina. subset: hposlim_core synonym: "Lacunar retinal depigmentation" RELATED [] xref: UMLS:C1844751 xref: UMLS:C4072866 is_a: HP:0000532 ! Abnormal chorioretinal morphology [Term] id: HP:0007859 name: Congenital horizontal nystagmus def: "Horizontal nystagmus dating from or present at birth." [HPO:curators] xref: UMLS:C1866180 is_a: HP:0000666 ! Horizontal nystagmus is_a: HP:0006934 ! Congenital nystagmus [Term] id: HP:0007862 name: Retinal calcification def: "Deposition of calcium salts in the retina." [HPO:probinson] xref: UMLS:C1867289 is_a: HP:0010766 ! Ectopic calcification is_a: HP:0030506 ! Yellow/white lesions of the retina [Term] id: HP:0007866 name: Retinal infarction xref: UMLS:C0281967 is_a: HP:0000479 ! Abnormal retinal morphology [Term] id: HP:0007867 name: Restrictive partial external ophthalmoplegia def: "Fibrosis of only some of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position." [HPO:probinson] xref: UMLS:C4024781 is_a: HP:0007936 ! Restrictive external ophthalmoplegia [Term] id: HP:0007868 name: obsolete Age-related macular degeneration is_obsolete: true consider: HP:0000608 [Term] id: HP:0007869 name: obsolete Peripheral retinopathy is_obsolete: true [Term] id: HP:0007872 name: Choroidal hemangioma def: "The presence of multiple hemangiomas in the choroid. These are generally reddish or orange or can have increased pigmentation maiking them difficult to distinguish from choroidal melanomas." [HPO:probinson] comment: Choroidal hemangiomas can cause hyperopia or other visual symptoms such as blurred or distorted vision. Some choroidal hemangiomas are asymptomatic. xref: NCIT:C3086 xref: SNOMEDCT_US:255022003 xref: UMLS:C0346390 is_a: HP:0001028 ! Hemangioma is_a: HP:0025568 ! Abnormal morphology of the choroidal vasculature [Term] id: HP:0007873 name: Abnormally prominent line of Schwalbe alt_id: HP:0007940 synonym: "Prominent Schwalbe lines" EXACT [] xref: UMLS:C1862376 is_a: HP:0008048 ! Abnormality of the line of Schwalbe [Term] id: HP:0007874 name: Almond-shaped palpebral fissure def: "A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point." [pmid:19125427] comment: The almond configuration tends to dissipate with time, as the surrounding tissues (e.g., eyelid, nasal bridge) grow. subset: hposlim_core synonym: "Almond shaped eyes" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Almond-shaped opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4024780 is_a: HP:0200005 ! Abnormal shape of the palpebral fissure [Term] id: HP:0007875 name: Congenital blindness alt_id: HP:0007706 def: "Blindness with onset at birth." [HPO:probinson] synonym: "Blindness present at birth" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Congenital amaurosis" EXACT [] xref: SNOMEDCT_US:95486002 xref: UMLS:C0005754 is_a: HP:0000618 ! Blindness [Term] id: HP:0007876 name: obsolete Juvenile cortical cataract is_obsolete: true replaced_by: HP:0100019 [Term] id: HP:0007879 name: Allergic conjunctivitis def: "Allergic Conjunctivitis is an allergic inflammation of the conjunctiva." [HPO:probinson] xref: MSH:D003233 xref: SNOMEDCT_US:231854006 xref: SNOMEDCT_US:473460002 xref: UMLS:C0009766 is_a: HP:0000509 ! Conjunctivitis is_a: HP:0012393 ! Allergy [Term] id: HP:0007880 name: Marginal corneal dystrophy xref: UMLS:C4024779 is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007881 name: Central corneal dystrophy xref: UMLS:C4024778 is_a: HP:0011493 ! Central opacification of the cornea [Term] id: HP:0007885 name: Slowed horizontal saccades def: "An abnormally slow velocity of horizontal saccadic eye movements." [HPO:probinson] comment: Saccades are rapid eye movements that align the fovea with the target. xref: UMLS:C1856477 is_a: HP:0000514 ! Slow saccadic eye movements [Term] id: HP:0007886 name: Absent extraocular muscles def: "Congenital absence of the extraocular muscles." [HPO:probinson] synonym: "Absent ocular muscles" RELATED [] synonym: "Missing eye muscles" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1408781 xref: UMLS:C4024777 is_a: HP:0008049 ! Abnormality of the extraocular muscles [Term] id: HP:0007889 name: Iridescent posterior subcapsular cataract def: "A type of posterior subcapsular cataract characterized by an iridescent color." [HPO:probinson, pmid:7826272] synonym: "Cataracts, posterior, subcapsular, iridescent" EXACT [] xref: UMLS:C1864573 is_a: HP:0007787 ! Posterior subcapsular cataract [Term] id: HP:0007892 name: Hypoplasia of the lacrimal punctum def: "Underdevelopment of the lacrimal puncta." [HPO:probinson] synonym: "Hypoplasia of the lacrimal puncta" EXACT HP:0045078 [] synonym: "Hypoplastic lacrimal puncta" EXACT HP:0045078 [] xref: UMLS:C4021564 is_a: HP:0011479 ! Abnormal lacrimal punctum morphology [Term] id: HP:0007893 name: obsolete Progressive retinal degeneration is_obsolete: true [Term] id: HP:0007894 name: Hypopigmentation of the fundus alt_id: HP:0001111 alt_id: HP:0001487 alt_id: HP:0007746 alt_id: HP:0007752 def: "Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid)." [ORCID:0000-0003-0986-4123] synonym: "Decreased fundus pigmentation" EXACT [] synonym: "Fundus hypopigmentation" EXACT [] xref: SNOMEDCT_US:95694000 xref: UMLS:C0151891 is_a: HP:0031605 ! Abnormality of fundus pigmentation [Term] id: HP:0007898 name: Exudative retinopathy xref: MSH:D058456 xref: SNOMEDCT_US:25506007 xref: SNOMEDCT_US:360455002 xref: UMLS:C0154832 is_a: HP:0001147 ! Retinal exudate [Term] id: HP:0007899 name: Retinal nonattachment alt_id: HP:0007849 def: "Failure of attachment of the retina during development." [HPO:probinson, pmid:21441919] synonym: "Congenital retinal non-attachment" EXACT [] xref: UMLS:C4021563 is_a: HP:0000541 ! Retinal detachment [Term] id: HP:0007900 name: Hypoplastic lacrimal duct synonym: "Underdeveloped tear duct" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1968574 is_a: HP:0011481 ! Abnormal lacrimal duct morphology [Term] id: HP:0007901 name: obsolete Retinal malformation is_obsolete: true replaced_by: HP:0000479 [Term] id: HP:0007902 name: Vitreous hemorrhage def: "Bleeding within the vitreous compartment of the eye." [DDD:akelly, PMID:16882398] comment: The most common causes include proliferative diabetic retinopathy, vitreous detachment with or without retinal breaks, and trauma. Less common causes include vascular occlusive disease, retinal arterial macroaneurysm, hemoglobinopathies, age-related macular degeneration, intraocular tumors, and others. subset: hposlim_core synonym: "Vitreous haemorrhage" EXACT HP:0045076 [] xref: MSH:D014823 xref: SNOMEDCT_US:31341008 xref: UMLS:C0042909 is_a: HP:0004327 ! Abnormal vitreous humor morphology is_a: HP:0011885 ! Hemorrhage of the eye [Term] id: HP:0007903 name: Paravenous chorioretinal atrophy def: "Chorioretinal atrophy along the retinal veins." [HPO:probinson, pmid:15623792] xref: UMLS:C4072868 is_a: HP:0000533 ! Chorioretinal atrophy [Term] id: HP:0007905 name: Abnormal iris vasculature synonym: "Abnormality of iris blood vessels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3275963 is_a: HP:0000525 ! Abnormality iris morphology is_a: HP:0008047 ! Abnormality of the vasculature of the eye [Term] id: HP:0007906 name: Ocular hypertension def: "Intraocular pressure that is 2 standard deviations above the population mean." [] synonym: "Elevated intraocular pressure" EXACT [] synonym: "Elevated IOP" EXACT HP:0045077 [] synonym: "High eye pressure" EXACT layperson [] synonym: "Increased intraocular pressure" EXACT [] synonym: "Increased IOP" EXACT HP:0045077 [] synonym: "Raised intraocular pressure" EXACT [] synonym: "Raised IOP" EXACT HP:0045077 [] xref: SNOMEDCT_US:112222000 xref: UMLS:C0234708 is_a: HP:0012632 ! Abnormal intraocular pressure [Term] id: HP:0007910 name: obsolete Nonprogressive congenital retinal dystrophy is_obsolete: true [Term] id: HP:0007911 name: Congenital bilateral ptosis alt_id: HP:0007719 alt_id: HP:0007955 synonym: "Congenital drooping of both upper eyelids" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Ptosis, bilateral congenital" EXACT [] synonym: "Ptosis, congenital bilateral" EXACT [] xref: UMLS:C1836264 is_a: HP:0001488 ! Bilateral ptosis is_a: HP:0007970 ! Congenital ptosis [Term] id: HP:0007913 name: Reticular retinal dystrophy def: "A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation." [] xref: UMLS:C4024776 is_a: HP:0007963 ! Pattern dystrophy of the retina [Term] id: HP:0007915 name: Polymorphous posterior corneal dystrophy def: "This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma." [HPO:probinson] xref: MSH:C562745 xref: SNOMEDCT_US:29504002 xref: UMLS:C0339284 is_a: HP:0011489 ! Abnormal migration of corneal endothelium is_a: HP:0011491 ! Reduced number of corneal endothelial cells [Term] id: HP:0007916 name: obsolete Small anterior lens surface opacities is_obsolete: true consider: HP:0007795 [Term] id: HP:0007917 name: Tractional retinal detachment def: "A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes." [HPO:probinson, ISBN-13:978-0199679980] xref: UMLS:C1866178 is_a: HP:0000541 ! Retinal detachment [Term] id: HP:0007920 name: obsolete Congenital chorioretinal dystrophy is_obsolete: true replaced_by: HP:0001135 [Term] id: HP:0007922 name: Hypermyelinated retinal nerve fibers alt_id: HP:0007654 synonym: "Retinal striation" EXACT [] xref: UMLS:C1849151 is_a: HP:0000479 ! Abnormal retinal morphology is_a: HP:0012447 ! Abnormal myelination [Term] id: HP:0007923 name: obsolete Foveal hyperplasia is_obsolete: true consider: HP:0000493 [Term] id: HP:0007924 name: Slow decrease in visual acuity alt_id: HP:0007652 synonym: "Decreased visual acuity, slowly progressive" RELATED [HPO:skoehler] synonym: "Slow decrease in sharpness of vision" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Subacute deterioration of visual acuity" EXACT [] xref: UMLS:C1853141 xref: UMLS:C3278981 is_a: HP:0000529 ! Progressive visual loss [Term] id: HP:0007925 name: Lacrimal duct aplasia def: "A congenital defect resulting in absence of the lacrimal duct." [HPO:probinson] synonym: "Absent tear duct" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024773 is_a: HP:0011481 ! Abnormal lacrimal duct morphology [Term] id: HP:0007928 name: Abnormal flash visual evoked potentials def: "Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room." [HPO:probinson] xref: UMLS:C4024772 is_a: HP:0000649 ! Abnormality of visual evoked potentials [Term] id: HP:0007929 name: Peripheral retinal detachment def: "Separation of the inner layers of the retina (neural retina) from the pigment epithelium occuring near the outer limit (periphery) of the retina." [] xref: UMLS:C4024771 is_a: HP:0000541 ! Retinal detachment [Term] id: HP:0007930 name: obsolete Prominent epicanthal folds is_obsolete: true replaced_by: HP:0000286 [Term] id: HP:0007932 name: Bilateral congenital mydriasis def: "Congenital abnormal dilation of the pupil on both sides." [HPO:probinson] xref: UMLS:C4024770 is_a: HP:0011499 ! Mydriasis [Term] id: HP:0007933 name: Broad lateral eyebrow def: "Regional increase in the width (height) of the lateral eyebrow." [HPO:probinson] synonym: "Wide lateral eyebrow" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1837733 is_a: HP:0011229 ! Broad eyebrow [Term] id: HP:0007935 name: Juvenile posterior subcapsular lenticular opacities xref: UMLS:C1863408 is_a: HP:0007787 ! Posterior subcapsular cataract [Term] id: HP:0007936 name: Restrictive external ophthalmoplegia alt_id: HP:0007846 alt_id: HP:0007959 alt_id: HP:0008025 def: "Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited." [HPO:probinson] synonym: "Restrictive external ophthalmoplegia, bilateral" RELATED [] synonym: "Restrictive ophthalmoplegia" EXACT [] xref: UMLS:C1865918 xref: UMLS:C4020806 is_a: HP:0000544 ! External ophthalmoplegia [Term] id: HP:0007937 name: Reticular pigmentary degeneration def: "A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus." [HPO:fprobst, PMID:28114409] synonym: "Fishnet retinal pigmentation" EXACT [] synonym: "Honeycomb retinal degeneration" EXACT [] xref: UMLS:C4024769 is_a: HP:0007769 ! Peripheral retinal degeneration is_a: HP:0011512 ! Hyperpigmentation of the fundus [Term] id: HP:0007939 name: Blue cone monochromacy def: "A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors." [HPO:probinson] synonym: "Blue cone monochromatism" EXACT [] synonym: "Incomplete achromatopsia" EXACT [] synonym: "S-cone monochromacy" EXACT [] xref: MSH:C536238 xref: SNOMEDCT_US:24704003 xref: UMLS:C0339537 is_a: HP:0011517 ! Cone monochromacy [Term] id: HP:0007941 name: Limited extraocular movements synonym: "Limited extraocular movement" EXACT [] xref: UMLS:C1858427 is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0007942 name: Internal ophthalmoplegia def: "Paralysis of the iris and ciliary apparatus." [HPO:probinson] comment: Paralysis of the internal ocular muscles, the iris and ciliary apparatus. xref: MSH:D009886 xref: SNOMEDCT_US:232146005 xref: UMLS:C0339693 is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0007943 name: Congenital stapes ankylosis def: "A form of stapes ankylosis with congenital onset." [HPO:probinson] xref: UMLS:C1866657 is_a: HP:0000381 ! Stapes ankylosis [Term] id: HP:0007944 name: Intermittent microsaccadic pursuits xref: UMLS:C4024768 is_a: HP:0001152 ! Saccadic smooth pursuit [Term] id: HP:0007945 name: obsolete Choroidal degeneration is_obsolete: true consider: HP:0200065 [Term] id: HP:0007946 name: Unilateral narrow palpebral fissure def: "A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only." [HPO:probinson] synonym: "Narrow palpebral fissure, unilateral" EXACT [] synonym: "Unequal size of opening between the eyelids" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1866805 xref: UMLS:C4280419 is_a: HP:0000581 ! Blepharophimosis [Term] id: HP:0007947 name: Pericentral retinitis pigmentosa def: "A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery." [ORCID:0000-0003-0986-4123, PMID:28981474] xref: MSH:C564838 xref: UMLS:C1849398 is_a: HP:0000510 ! Rod-cone dystrophy [Term] id: HP:0007948 name: Dense posterior cortical cataract def: "A type of posterior cortical cataract characterized by dense lenticular opacities." [HPO:probinson] xref: UMLS:C4024767 is_a: HP:0010924 ! Posterior cortical cataract [Term] id: HP:0007949 name: obsolete Progressive macular scarring is_obsolete: true [Term] id: HP:0007950 name: Peripapillary chorioretinal atrophy def: "Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head)." [HPO:probinson] xref: UMLS:C4024765 is_a: HP:0000533 ! Chorioretinal atrophy [Term] id: HP:0007956 name: obsolete Bilateral choroid coloboma is_obsolete: true replaced_by: HP:0000567 [Term] id: HP:0007957 name: Corneal opacity alt_id: HP:0007844 alt_id: HP:0007883 alt_id: HP:0008502 def: "A reduction of corneal clarity." [HPO:probinson] subset: hposlim_core synonym: "Corneal clouding" EXACT [] synonym: "Corneal opacities" EXACT [] synonym: "Reduction of corneal clarity" EXACT [] synonym: "Scarring or clouding of the cornea of the eye" EXACT [] xref: MSH:D003318 xref: SNOMEDCT_US:413921009 xref: SNOMEDCT_US:64634000 xref: SNOMEDCT_US:95735008 xref: UMLS:C0010038 xref: UMLS:C0521719 is_a: HP:0000481 ! Abnormal cornea morphology [Term] id: HP:0007958 name: Optic atrophy from cranial nerve compression xref: UMLS:C4024763 is_a: HP:0000648 ! Optic atrophy is_a: HP:0001293 ! Cranial nerve compression [Term] id: HP:0007961 name: obsolete Rarefaction of retinal pigmentation is_obsolete: true consider: HP:0000580 [Term] id: HP:0007962 name: Speckled corneal dystrophy xref: UMLS:C4021857 is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007963 name: Pattern dystrophy of the retina def: "A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation)." [ORCID:0000-0003-0986-4123] xref: UMLS:C4024762 is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0007964 name: Degenerative vitreoretinopathy xref: UMLS:C1843486 is_a: HP:0007773 ! Vitreoretinopathy [Term] id: HP:0007965 name: Undetectable visual evoked potentials synonym: "Absence of visual evoked potentials" EXACT [] synonym: "Non-detectable VEP" EXACT [] synonym: "Undetectable VEP" EXACT [] xref: UMLS:C1850069 is_a: HP:0000649 ! Abnormality of visual evoked potentials [Term] id: HP:0007968 name: Remnants of the hyaloid vascular system def: "Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract." [HPO:probinson] subset: hposlim_core synonym: "Congenital retinal septum" EXACT [] synonym: "Persistent fetal vasculature" EXACT [ORCID:0000-0001-6908-9849] synonym: "Persistent hyperplasia of primary vitreous" EXACT [] synonym: "Persistent hyperplastic primary vitreous" EXACT [] synonym: "Persistent hypertrophic primary vitreous" EXACT [] synonym: "Persistent posterior fetal fibrovascular sheath of the lens" EXACT [] synonym: "Persistent tunica vasculosa lentis" EXACT [] xref: MSH:D054514 xref: SNOMEDCT_US:314270008 xref: SNOMEDCT_US:44647001 xref: SNOMEDCT_US:69927002 xref: UMLS:C0266568 is_a: HP:0004327 ! Abnormal vitreous humor morphology [Term] id: HP:0007970 name: Congenital ptosis synonym: "Congenital drooping upper eyelid" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:268163008 xref: SNOMEDCT_US:61989004 xref: UMLS:C0266573 is_a: HP:0000508 ! Ptosis [Term] id: HP:0007971 name: Lamellar cataract def: "A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens." [HPO:probinson] xref: SNOMEDCT_US:204128001 xref: SNOMEDCT_US:21590003 xref: UMLS:C0266537 is_a: HP:0010920 ! Zonular cataract [Term] id: HP:0007973 name: Retinal dysplasia alt_id: HP:0007901 alt_id: HP:0008022 def: "The presence of developmental dysplasia of the retina." [HPO:probinson] comment: This feature is a congenital developmental anomaly of the retina characterized by abnormal growth and differentiation. The retina contains numerous tubular structures and rosettes. Retinal dysplasia (synonym: retinal dysgenesis) is often accompanied by retinal detachment and micropthalmos, but the latter features should be coded separately. subset: hposlim_core synonym: "Retinal dysgenesis" EXACT [] xref: MSH:D015792 xref: SNOMEDCT_US:95494009 xref: UMLS:C0035313 is_a: HP:0000479 ! Abnormal retinal morphology [Term] id: HP:0007975 name: Hypometric horizontal saccades def: "Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object." [HPO:probinson, pmid:572501] xref: UMLS:C1856478 is_a: HP:0000571 ! Hypometric saccades [Term] id: HP:0007976 name: Cerulean cataract def: "Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary." [HPO:probinson, pmid:19496508, pmid:9158139] synonym: "Cataracts, congenital, cerulean" EXACT [] xref: MSH:C537955 xref: SNOMEDCT_US:204138006 xref: UMLS:C0344523 is_a: HP:0007648 ! Punctate cataract [Term] id: HP:0007979 name: Gaze-evoked horizontal nystagmus alt_id: HP:0007639 def: "Horizontal nystagmus made apparent by looking to the right or to the left." [HPO:curators] synonym: "Nystagmus, horizontal gaze-evoked" RELATED [HPO:skoehler] synonym: "Nystagmus, horizontal, gaze-evoked" EXACT [] xref: UMLS:C1853394 is_a: HP:0000640 ! Gaze-evoked nystagmus is_a: HP:0000666 ! Horizontal nystagmus [Term] id: HP:0007980 name: Absent retinal pigment epithelium xref: UMLS:C1852548 is_a: HP:0007894 ! Hypopigmentation of the fundus [Term] id: HP:0007981 name: obsolete Concentric narrowing of visual field is_obsolete: true replaced_by: HP:0001133 [Term] id: HP:0007982 name: obsolete Central tapetoretinal dystrophy is_obsolete: true [Term] id: HP:0007984 name: Electronegative electroretinogram def: "A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source: Holder GE., Inherited Chorioretinal Dystrophies: A Textbook and Atlas; 2014; p.17; ISBN 978-3-540-69466-3]." [HPO:probinson] comment: Flashes will elicit an a-wave with an initial negative deflection followed by a b-wave with positive deflection. This feature refers to a reduction in the amplitude primarily of the b-wave. synonym: "Electronegative ERG" EXACT HP:0045077 [] synonym: "Electroretinogram: reduced b-wave amplitude" EXACT [] synonym: "Reduced amplitude of dark-adapted bright flash electroretinogram b-wave" EXACT [] synonym: "Reduced electroretinogram rod b-wave" EXACT [] synonym: "Reduced ERG amplitude of b-wave" EXACT [] xref: UMLS:C4021561 is_a: HP:0030478 ! Abnormal amplitude of dark-adapted bright flash electroretinogram [Term] id: HP:0007985 name: Retinal arteriolar occlusion def: "Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina." [HPO:probinson] synonym: "Blocked retinal artery" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4024761 is_a: HP:0000630 ! Abnormal retinal artery morphology is_a: HP:0100545 ! Arterial stenosis [Term] id: HP:0007986 name: Increased retinal vascularity xref: UMLS:C1847882 is_a: HP:0008046 ! Abnormal retinal vascular morphology [Term] id: HP:0007987 name: Progressive visual field defects xref: UMLS:C4024760 is_a: HP:0001123 ! Visual field defect [Term] id: HP:0007988 name: Macular hypopigmentation def: "Decreased amount of pigmentation in the macula lutea." [DDD:ncarter] xref: UMLS:C4024759 is_a: HP:0008002 ! Abnormality of macular pigmentation [Term] id: HP:0007989 name: Intraretinal exudate def: "Retinal exudate within the retinal tissue itself." [HPO:probinson] xref: UMLS:C4024758 is_a: HP:0001147 ! Retinal exudate [Term] id: HP:0007990 name: Hypoplastic iris stroma alt_id: HP:0007991 alt_id: HP:0008027 def: "Underdevelopment of the stroma of iris." [HPO:probinson] synonym: "Hypoplastic iris stoma" EXACT [] synonym: "Iris stromal hypoplasia" EXACT [] synonym: "Underdeveloped iris stroma" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C1860344 is_a: HP:0007676 ! Hypoplasia of the iris [Term] id: HP:0007992 name: Lattice retinal degeneration xref: SNOMEDCT_US:3577000 xref: UMLS:C0154856 is_a: HP:0007769 ! Peripheral retinal degeneration [Term] id: HP:0007993 name: Malformed lacrimal duct def: "Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies." [HPO:probinson] synonym: "Malformed tear ducts" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024757 is_a: HP:0011481 ! Abnormal lacrimal duct morphology [Term] id: HP:0007994 name: Peripheral visual field loss def: "Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision." [HPO:probinson] synonym: "Kalnienk vision" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Loss of peripheral vision" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Tunnel vision" RELATED layperson [] xref: SNOMEDCT_US:420990001 xref: UMLS:C0241688 xref: UMLS:C2937228 is_a: HP:0001133 ! Constriction of peripheral visual field [Term] id: HP:0008000 name: Decreased corneal reflex def: "An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids." [HPO:probinson] synonym: "Decreased blink reflex" EXACT [] synonym: "Reduced corneal reflex" EXACT [] xref: MSH:D012021 xref: SNOMEDCT_US:103254005 xref: UMLS:C0151572 is_a: HP:0000481 ! Abnormal cornea morphology [Term] id: HP:0008001 name: Foveal hyperpigmentation def: "Increased amount of pigmentation in the fovea centralis." [HPO:probinson] xref: UMLS:C3809301 is_a: HP:0030493 ! Abnormality of foveal pigmentation [Term] id: HP:0008002 name: Abnormality of macular pigmentation def: "Abnormality of macular or foveal pigmentation." [DDD:ncarter] subset: hposlim_core synonym: "Macular pigmentary changes" RELATED [] xref: UMLS:C1837087 xref: UMLS:C4024756 is_a: HP:0001103 ! Abnormal macular morphology [Term] id: HP:0008003 name: Jerky ocular pursuit movements alt_id: HP:0007897 synonym: "Jerky smooth pursuit" EXACT [] xref: UMLS:C1853558 is_a: HP:0000617 ! Abnormality of ocular smooth pursuit [Term] id: HP:0008005 name: Congenital corneal dystrophy xref: UMLS:C1611195 is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0008007 name: Primary congenital glaucoma xref: SNOMEDCT_US:415176004 xref: UMLS:C1533041 is_a: HP:0001087 ! Developmental glaucoma [Term] id: HP:0008008 name: obsolete Progressive central visual loss is_obsolete: true [Term] id: HP:0008009 name: Three rows of eyelashes synonym: "Three rows of eyelashes" EXACT layperson [] synonym: "Triple row of eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1860785 is_a: HP:0008496 ! Multiple rows of eyelashes [Term] id: HP:0008011 name: Peripheral opacification of the cornea def: "Reduced transparency of the peripheral region of the cornea." [HPO:probinson] synonym: "Peripheral corneal opacity" EXACT [] xref: SNOMEDCT_US:55713007 xref: UMLS:C0155100 is_a: HP:0007759 ! Opacification of the corneal stroma [Term] id: HP:0008012 name: obsolete Congenital myopia is_obsolete: true consider: HP:0000545 [Term] id: HP:0008014 name: Central fundal arteriolar microaneurysms def: "Microscopic aneurysms of the retinal arterioles near the central part of the fundus, visible as small round dark red dots on the retinal surface (not arising from visible vessels) that are by definition less than the diameter of the major optic veins as they cross the optic disc." [HPO:probinson] xref: UMLS:C4024755 is_a: HP:0032416 ! Retinal microaneurysm [Term] id: HP:0008017 name: obsolete Depigmented lesions of the retinal pigment epithelium is_obsolete: true [Term] id: HP:0008019 name: Superior lens subluxation def: "Partial dislocation of the lens in a superior direction." [HPO:probinson, pmid:5087595] synonym: "Superior subluxated lens" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C2036843 is_a: HP:0001132 ! Lens subluxation [Term] id: HP:0008020 name: Cone dystrophy alt_id: HP:0007789 def: "Inherited progressive cone degeneration." [] synonym: "Progressive cone degeneration" EXACT [] synonym: "Progressive cone dystrophy" EXACT [] xref: UMLS:C3665342 is_a: HP:0000548 ! Cone/cone-rod dystrophy [Term] id: HP:0008024 name: obsolete Congenital nuclear cataract is_obsolete: true replaced_by: HP:0100018 [Term] id: HP:0008026 name: Horizontal opticokinetic nystagmus xref: UMLS:C4024754 is_a: HP:0000666 ! Horizontal nystagmus [Term] id: HP:0008028 name: Cystoid macular degeneration alt_id: HP:0007673 def: "A form of macular degeneration characterized by the presence of multiple cysts in the macula." [HPO:probinson] synonym: "Cystic macular degeneration" EXACT [] xref: SNOMEDCT_US:14046000 xref: UMLS:C0154850 is_a: HP:0000608 ! Macular degeneration [Term] id: HP:0008030 name: Retinal arteritis synonym: "Retinal vaculitis" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:11255009 xref: UMLS:C0271069 is_a: HP:0000630 ! Abnormal retinal artery morphology is_a: HP:0012089 ! Arteritis is_a: HP:0025188 ! Retinal vasculitis [Term] id: HP:0008031 name: Posterior Y-sutural cataract def: "A type of sutural cataract in which the opacity follows the posterior Y suture." [HPO:probinson] synonym: "Posterior Y-sutural cataracts" EXACT [] xref: UMLS:C4021560 is_a: HP:0010695 ! Sutural cataract [Term] id: HP:0008033 name: obsolete Congenital exotropia is_obsolete: true replaced_by: HP:0000577 [Term] id: HP:0008034 name: Abnormal iris pigmentation def: "Abnormal pigmentation of the iris." [HPO:probinson] subset: hposlim_core xref: UMLS:C1834387 is_a: HP:0000525 ! Abnormality iris morphology [Term] id: HP:0008035 name: Retinitis pigmentosa inversa alt_id: HP:0008506 def: "Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery)." [ORCID:0000-0003-0986-4123, PMID:9734800] synonym: "Central retinitis pigmentosa" EXACT [] xref: UMLS:C4021559 is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0008036 name: obsolete Rod-cone dystrophy is_obsolete: true [Term] id: HP:0008037 name: Absent anterior chamber of the eye def: "Absence of the anterior chamber of the eye owing to a developmental defect." [] xref: SNOMEDCT_US:404675003 xref: SNOMEDCT_US:55457007 xref: UMLS:C0271004 is_a: HP:0000593 ! Abnormal anterior chamber morphology [Term] id: HP:0008038 name: Aplastic/hypoplastic lacrimal glands def: "Absence or underdevelopment of the lacrimal gland." [HPO:probinson] synonym: "Absent/underdeveloped lacrimal glands" EXACT [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped tear glands" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1835602 is_a: HP:0011482 ! Abnormal lacrimal gland morphology [Term] id: HP:0008039 name: Subepithelial corneal opacities xref: UMLS:C1857307 is_a: HP:0007727 ! Opacification of the corneal epithelium [Term] id: HP:0008041 name: Late onset congenital glaucoma xref: UMLS:C1856441 is_a: HP:0001087 ! Developmental glaucoma [Term] id: HP:0008043 name: Retinal arteriolar constriction alt_id: HP:0007952 alt_id: HP:0008510 def: "Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina." [HPO:probinson] comment: Usually after the first branch, the retinal arteries contain no elastic fibers and the term retinal arteriole is more appropriate. The main changes seen in diseases such as hypertension affect mainly the retinal arterioles rather than the retinal artery. synonym: "Constricted retinal arterioles" EXACT [] synonym: "Narrow retinal arterioles" EXACT [] synonym: "Retinal arteriolar narrowing" EXACT [] xref: UMLS:C2176208 is_a: HP:0000630 ! Abnormal retinal artery morphology [Term] id: HP:0008045 name: Enlarged flash visual evoked potentials synonym: "High flash visual evoked potentials" EXACT [] xref: UMLS:C4021558 is_a: HP:0030462 ! Abnormal amplitude of flash visual evoked potentials [Term] id: HP:0008046 name: Abnormal retinal vascular morphology def: "A structural abnormality of retinal vasculature." [HPO:probinson] synonym: "Abnormality of retina blood vessels" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the retinal vasculature" EXACT [] xref: UMLS:C4024753 is_a: HP:0000479 ! Abnormal retinal morphology is_a: HP:0008047 ! Abnormality of the vasculature of the eye created_by: peter creation_date: 2008-04-02T12:09:00Z [Term] id: HP:0008047 name: Abnormality of the vasculature of the eye synonym: "Abnormality of eye blood vessels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024752 is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0012372 ! Abnormal eye morphology created_by: peter creation_date: 2008-04-02T12:10:00Z [Term] id: HP:0008048 name: Abnormality of the line of Schwalbe def: "An abnormality of the line of Schwalbe." [HPO:probinson] comment: Schwalbe's line is the anatomical line found on the posterior surface of the cornea, delineating the outer limit of the corneal endothelium layer. xref: UMLS:C4021856 is_a: HP:0000481 ! Abnormal cornea morphology created_by: peter creation_date: 2008-04-02T12:12:00Z [Term] id: HP:0008049 name: Abnormality of the extraocular muscles def: "An abnormality of an extraocular muscle." [HPO:probinson] comment: There are six extraocular muscles that control the movements of the eye. xref: UMLS:C4024751 is_a: HP:0003011 ! Abnormality of the musculature is_a: HP:0030669 ! Abnormal ocular adnexa morphology created_by: peter creation_date: 2008-04-02T12:14:00Z [Term] id: HP:0008050 name: Abnormality of the palpebral fissures def: "An anomaly of the space between the medial and lateral canthi of the two open eyelids." [HPO:probinson] synonym: "Abnormality of the opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the palpebral fissures" EXACT layperson [] synonym: "Deformity of the palpebral fissures" NARROW [ORCID:0000-0001-5889-4463] synonym: "Malformation of the palpebral fissures" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4024750 is_a: HP:0000492 ! Abnormal eyelid morphology created_by: peter creation_date: 2008-04-02T01:22:00Z [Term] id: HP:0008051 name: obsolete Abnormality of the retinal pigment epithelium is_obsolete: true replaced_by: HP:0007703 [Term] id: HP:0008052 name: Retinal fold def: "A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy." [HPO:probinson] synonym: "Retinal folds" EXACT [HPO:skoehler] xref: SNOMEDCT_US:37480005 xref: UMLS:C0229197 is_a: HP:0000479 ! Abnormal retinal morphology created_by: peter creation_date: 2008-04-02T01:37:00Z [Term] id: HP:0008053 name: Aplasia/Hypoplasia of the iris def: "Absence or underdevelopment of the iris." [HPO:probinson] synonym: "Absent/small iris" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped iris" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024748 is_a: HP:0000525 ! Abnormality iris morphology is_a: HP:0008055 ! Aplasia/Hypoplasia affecting the uvea is_a: HP:0008062 ! Aplasia/Hypoplasia affecting the anterior segment of the eye created_by: peter creation_date: 2008-04-02T01:50:00Z [Term] id: HP:0008054 name: Abnormal morphology of the conjunctival vasculature def: "Any abnormality of the blood vessels of the conjunctiva." [HPO:curators] synonym: "Abnormal morphology of the conjunctiva vasculature" EXACT [] synonym: "Abnormal vasculature of the conjunctiva morphology" EXACT [] synonym: "Abnormality of the vasculature of the conjunctiva" EXACT [] xref: UMLS:C4024747 is_a: HP:0000502 ! Abnormal conjunctiva morphology is_a: HP:0008047 ! Abnormality of the vasculature of the eye created_by: peter creation_date: 2008-04-02T03:04:00Z [Term] id: HP:0008055 name: Aplasia/Hypoplasia affecting the uvea def: "Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid." [HPO:probinson] synonym: "Absent/underdeveloped uvea" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4024746 is_a: HP:0000553 ! Abnormal uvea morphology is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye created_by: peter creation_date: 2008-04-02T03:24:00Z [Term] id: HP:0008056 name: Aplasia/Hypoplasia affecting the eye synonym: "Absent/small eye" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped eye" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024745 is_a: HP:0012372 ! Abnormal eye morphology created_by: peter creation_date: 2008-04-02T03:25:00Z [Term] id: HP:0008057 name: Aplasia/Hypoplasia affecting the fundus synonym: "Absent/small fundus" EXACT [https://en.wikipedia.org/wiki/febrile_seizure, ORCID:0000-0001-5208-3432] xref: UMLS:C4024744 is_a: HP:0001098 ! Abnormal fundus morphology is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye created_by: peter creation_date: 2008-04-02T03:27:00Z [Term] id: HP:0008058 name: Aplasia/Hypoplasia of the optic nerve synonym: "Absent/small optic nerve" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped optic nerve" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024743 is_a: HP:0000587 ! Abnormality of the optic nerve is_a: HP:0008057 ! Aplasia/Hypoplasia affecting the fundus created_by: peter creation_date: 2008-04-02T03:28:00Z [Term] id: HP:0008059 name: Aplasia/Hypoplasia of the macula synonym: "Absent/underdeveloped macula" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4024742 is_a: HP:0001103 ! Abnormal macular morphology is_a: HP:0008061 ! Aplasia/Hypoplasia of the retina created_by: peter creation_date: 2008-04-02T03:29:00Z [Term] id: HP:0008060 name: Aplasia/Hypoplasia of the fovea def: "Congenital absence or underdevelopment of the fovea centralis." [HPO:probinson] synonym: "Absent/underdeveloped fovea" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024741 is_a: HP:0000493 ! Abnormal foveal morphology is_a: HP:0008059 ! Aplasia/Hypoplasia of the macula created_by: peter creation_date: 2008-04-02T03:30:00Z [Term] id: HP:0008061 name: Aplasia/Hypoplasia of the retina synonym: "Absent/small retina" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped retina" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024740 is_a: HP:0000479 ! Abnormal retinal morphology is_a: HP:0008057 ! Aplasia/Hypoplasia affecting the fundus created_by: peter creation_date: 2008-04-02T03:30:00Z [Term] id: HP:0008062 name: Aplasia/Hypoplasia affecting the anterior segment of the eye def: "Absence or underdevelopment of the anterior segment of the eye." [HPO:probinson] xref: UMLS:C4024739 is_a: HP:0007700 ! Ocular anterior segment dysgenesis is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye created_by: peter creation_date: 2008-04-02T03:33:00Z [Term] id: HP:0008063 name: Aplasia/Hypoplasia of the lens def: "Absence or underdevelopment of the lens." [HPO:probinson] synonym: "Absent/small lens" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped lens" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024738 is_a: HP:0000517 ! Abnormality of the lens is_a: HP:0008062 ! Aplasia/Hypoplasia affecting the anterior segment of the eye created_by: peter creation_date: 2008-04-02T03:33:00Z [Term] id: HP:0008064 name: Ichthyosis alt_id: HP:0000955 alt_id: HP:0007547 def: "An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization." [HPO:probinson] comment: The ichthyoses are a group of skin diseases characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed. The abnormality in ichthyosis lies in am imbalance in the normal lifecycle of skin in which growth is matched with dying and shedding of skin cells. In ichthyosis, skin cells reproduce at a rate faster than dead skin cells can be shed or reproduce at a normal rate with a reduction in the rate of shedding. Either abnormality leads to a build up of dry and scaly skin. Note that this term refers to the morphological abnormality of the skin and not the disorder. subset: hposlim_core synonym: "Hypertrophic ichthyosis" RELATED [] synonym: "Ichthyosiform abnormality of the skin" EXACT [] synonym: "Ichthyotic skin" EXACT [] xref: MEDDRA:10021198 "Ichthyosis" xref: MSH:D007057 xref: UMLS:C0020757 is_a: HP:0011368 ! Epidermal thickening created_by: peter creation_date: 2008-04-02T03:41:00Z [Term] id: HP:0008065 name: Aplasia/Hypoplasia of the skin synonym: "Absent/small skin" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped skin" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024737 is_a: HP:0011355 ! Localized skin lesion created_by: peter creation_date: 2008-04-02T03:44:00Z [Term] id: HP:0008066 name: Abnormal blistering of the skin alt_id: HP:0007467 alt_id: HP:0007496 alt_id: HP:0200038 def: "The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls." [HPO:probinson] comment: A bulla is a large vesicle described as a rounded or irregularly shaped blister containing serous or seropurulent fluid, equal to or greater than 10mm. synonym: "Abnormal blistering of the skin" EXACT layperson [] synonym: "Blistering, generalized" EXACT layperson [] synonym: "Blisters" EXACT layperson [] synonym: "Skin blisters" RELATED layperson [HPO:skoehler] synonym: "Skin bullae" EXACT [] xref: UMLS:C0241054 xref: UMLS:C2132198 xref: UMLS:C2220104 is_a: HP:0011121 ! Abnormality of skin morphology created_by: peter creation_date: 2008-04-02T03:54:00Z [Term] id: HP:0008067 name: Abnormally lax or hyperextensible skin synonym: "Abnormally loose or hyperelastic skin" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormally loose or stretchable skin" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024736 is_a: HP:0010647 ! Abnormal elasticity of skin created_by: peter creation_date: 2008-04-02T03:56:00Z [Term] id: HP:0008069 name: Neoplasm of the skin def: "A tumor (abnormal growth of tissue) of the skin." [HPO:probinson] subset: hposlim_core synonym: "Dermatological tumors" EXACT [HPO:sdoelken] synonym: "Neoplasia of the skin" RELATED [] synonym: "Skin cancer" RELATED layperson [HPO:skoehler] synonym: "Skin cancer (non-melanoma)" BROAD layperson [] synonym: "Skin tumors" EXACT layperson [] synonym: "Tumor of the skin" EXACT layperson [] xref: MSH:D012878 xref: NCIT:C3262 xref: SNOMEDCT_US:126488004 xref: SNOMEDCT_US:372130007 xref: UMLS:C0007114 xref: UMLS:C0037286 is_a: HP:0000951 ! Abnormality of the skin is_a: HP:0011793 ! Neoplasm by anatomical site created_by: peter creation_date: 2008-04-02T04:01:00Z [Term] id: HP:0008070 name: Sparse hair alt_id: HP:0002237 alt_id: HP:0002291 alt_id: HP:0004522 alt_id: HP:0004538 def: "Reduced density of hairs." [HPO:probinson] comment: This term applies if the number of hair shafts per unit area is reduced. The term fine hair is used to describe hair with a reduced diameter. synonym: "Sparse hair" EXACT layperson [] synonym: "Thin, sparse hair" RELATED layperson [HPO:skoehler] xref: UMLS:C1837770 xref: UMLS:C1860844 is_a: HP:0011357 ! Abnormality of hair density created_by: peter creation_date: 2008-04-02T04:11:00Z [Term] id: HP:0008071 name: Maternal hypertension def: "Increased blood pressure during a pregnancy." [HPO:sdoelken] xref: SNOMEDCT_US:288250001 xref: UMLS:C0565599 is_a: HP:0100603 ! Toxemia of pregnancy [Term] id: HP:0008072 name: Maternal virilization in pregnancy def: "Virilization (deepening of voice, facial hirsutism and scalp hair loss) with onset during pregnancy (usually towards the end of the first trimester) and regression several months post-partum." [HPO:probinson] xref: UMLS:C4024735 is_a: HP:0002686 ! Prenatal maternal abnormality [Term] id: HP:0008073 name: Low maternal serum estriol def: "An abnormally high concentration of serum conjugated estriol as compared to normal values for gestational-age." [pmid:19038077] synonym: "Low maternal serum estriol" EXACT layperson [] xref: UMLS:C4024734 is_a: HP:0011436 ! Abnormal maternal serum screening [Term] id: HP:0008074 name: Metatarsal periosteal thickening xref: UMLS:C1834349 is_a: HP:0001832 ! Abnormal metatarsal morphology is_a: HP:0030313 ! Abnormal periosteum morphology [Term] id: HP:0008075 name: Progressive pes cavus def: "The development of Pes cavus that is progressive with age." [HPO:probinson] xref: UMLS:C1846017 is_a: HP:0001761 ! Pes cavus [Term] id: HP:0008076 name: Osteoporotic tarsals def: "Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones." [HPO:probinson] xref: UMLS:C1836872 is_a: HP:0009132 ! Abnormal tarsal bone mineral density [Term] id: HP:0008078 name: Thin metatarsal cortices xref: UMLS:C1850162 is_a: HP:0001832 ! Abnormal metatarsal morphology [Term] id: HP:0008079 name: Absent fifth metatarsal alt_id: HP:0010670 def: "A developmental abnormality characterized by the absence of the fifth metatarsal bone." [HPO:probinson] synonym: "Absent 5th long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent 5th metatarsals" EXACT [] synonym: "Aplasia of the fifth metatarsal bone" EXACT [] xref: UMLS:C1867932 is_a: HP:0010744 ! Absent metatarsal bone [Term] id: HP:0008080 name: Hallux varus def: "Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially." [HPO:curators] synonym: "Medially deviated halluces" EXACT [] xref: MSH:D050488 xref: SNOMEDCT_US:274147008 xref: UMLS:C0546297 is_a: HP:0010051 ! Deviation of the hallux [Term] id: HP:0008081 name: Pes valgus def: "An outward deviation of the foot at the talocalcaneal or subtalar joint." [] comment: Valgus refers to the twisting outward of a bone or joint is twisted outward from the center of the body, whereas varus is a twisting toward the center of the body. synonym: "Valgus foot deformity" EXACT [] xref: SNOMEDCT_US:249803006 xref: SNOMEDCT_US:275344002 xref: UMLS:C1578482 is_a: HP:0001760 ! Abnormality of the foot [Term] id: HP:0008082 name: Medial deviation of the foot xref: UMLS:C2673401 is_a: HP:0001760 ! Abnormality of the foot [Term] id: HP:0008083 name: 2nd-5th toe middle phalangeal hypoplasia synonym: "Underdeveloped 2nd-5th middle toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1861376 is_a: HP:0003795 ! Short middle phalanx of toe [Term] id: HP:0008087 name: Nonossified fifth metatarsal def: "The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible." [HPO:probinson] xref: UMLS:C1844712 is_a: HP:0008371 ! Abnormal metatarsal ossification [Term] id: HP:0008089 name: Abnormality of the fifth metatarsal bone def: "An anomaly of the fifth metatarsal bone." [HPO:probinson] synonym: "Abnormality of the 5th long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024733 is_a: HP:0001832 ! Abnormal metatarsal morphology [Term] id: HP:0008090 name: Ankylosis of feet small joints xref: UMLS:C4024732 is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0031013 ! Ankylosis [Term] id: HP:0008093 name: Short 4th toe def: "Underdevelopment (hypoplasia) of the fourth toe." [HPO:probinson] synonym: "Short 4th toe" EXACT layperson [] synonym: "Short fourth toe" EXACT layperson [] xref: UMLS:C1862083 is_a: HP:0001831 ! Short toe [Term] id: HP:0008094 name: Widely spaced toes alt_id: HP:0008077 def: "An overall widening of the spaces between the digits." [HPO:probinson, pmid:19125433] comment: This description is based on the width of the gap between the toes. It is usually used when the width of the toes remains normal rather than to describe a situation where the toes are thin or narrow. This term should not be used for the situation where the finding is limited to a gap between T1,2 (see Sandal gap). synonym: "Widely spaced toes" EXACT layperson [] xref: UMLS:C1969238 is_a: HP:0001780 ! Abnormality of toe [Term] id: HP:0008095 name: Osteolysis of talus def: "Osteolysis affecting the talus." [HPO:sdoelken] synonym: "Osteolysis of tali" EXACT [] xref: UMLS:C4021556 is_a: HP:0008365 ! Abnormality of the talus is_a: HP:0009134 ! Osteolysis involving bones of the feet [Term] id: HP:0008096 name: Medially deviated second toe def: "Medial deviation of the second toe." [HPO:probinson] xref: UMLS:C1862147 is_a: HP:0010326 ! Deviation of the 2nd toe [Term] id: HP:0008097 name: Partial fusion of tarsals xref: UMLS:C1844520 is_a: HP:0008368 ! Tarsal synostosis [Term] id: HP:0008102 name: Expanded metatarsals with widened medullary cavities xref: UMLS:C1969289 is_a: HP:0001832 ! Abnormal metatarsal morphology [Term] id: HP:0008103 name: Delayed tarsal ossification alt_id: HP:0008145 def: "Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones." [HPO:probinson] synonym: "Delayed ankle bone maturation" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Tarsal delayed ossification" EXACT [] xref: UMLS:C1846853 xref: UMLS:C4280418 is_a: HP:0008369 ! Abnormal tarsal ossification [Term] id: HP:0008107 name: Plantar crease between first and second toes def: "The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe." [HPO:probinson] xref: UMLS:C1867132 is_a: HP:0001869 ! Deep plantar creases [Term] id: HP:0008108 name: Advanced tarsal ossification alt_id: HP:0008137 def: "Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones." [HPO:probinson] synonym: "Accelerated ankle bone maturation" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Precociously ossified tarsal bones" EXACT [] xref: UMLS:C1849293 xref: UMLS:C4280417 is_a: HP:0008369 ! Abnormal tarsal ossification [Term] id: HP:0008110 name: Equinovarus deformity xref: MSH:D003025 xref: SNOMEDCT_US:249808002 xref: SNOMEDCT_US:397932003 xref: UMLS:C0009081 is_a: HP:0001760 ! Abnormality of the foot [Term] id: HP:0008111 name: Broad distal hallux synonym: "Broad distal big toe" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C1863403 is_a: HP:0010055 ! Broad hallux [Term] id: HP:0008112 name: Plantar flexion contractures xref: UMLS:C1861239 is_a: HP:0008366 ! Contractures involving the joints of the feet [Term] id: HP:0008113 name: Multiple plantar creases xref: UMLS:C1861873 is_a: HP:0100872 ! Abnormality of the plantar skin of foot [Term] id: HP:0008114 name: Metatarsal diaphyseal endosteal sclerosis def: "Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones." [HPO:curators] xref: UMLS:C1840420 is_a: HP:0000940 ! Abnormal diaphysis morphology is_a: HP:0001832 ! Abnormal metatarsal morphology is_a: HP:0100925 ! Sclerosis of foot bone [Term] id: HP:0008115 name: Clinodactyly of the 3rd toe def: "Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe)." [HPO:probinson] synonym: "3rd toe clinodactyly" EXACT [] synonym: "Curvature of 3rd toe" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021555 xref: UMLS:C4280416 is_a: HP:0001863 ! Toe clinodactyly is_a: HP:0010332 ! Deviation of the 3rd toe [Term] id: HP:0008116 name: Flexion limitation of toes def: "Limitation of the ability to bend the toes." [HPO:probinson] xref: UMLS:C4024731 is_a: HP:0001436 ! Abnormality of the foot musculature [Term] id: HP:0008117 name: Shortening of the talar neck xref: UMLS:C1843985 is_a: HP:0008365 ! Abnormality of the talus [Term] id: HP:0008119 name: Deformed tarsal bones synonym: "Deformed ankle bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1856746 is_a: HP:0001850 ! Abnormality of the tarsal bones [Term] id: HP:0008122 name: Calcaneonavicular fusion def: "Synostosis of the calcaneus with the navicular bone." [HPO:probinson] xref: UMLS:C4024730 is_a: HP:0008368 ! Tarsal synostosis [Term] id: HP:0008124 name: Talipes calcaneovarus def: "A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus." [HPO:probinson] xref: MSH:D000070558 xref: SNOMEDCT_US:30449003 xref: UMLS:C0265646 is_a: HP:0001883 ! Talipes [Term] id: HP:0008125 name: Second metatarsal posteriorly placed xref: UMLS:C1859224 is_a: HP:0001832 ! Abnormal metatarsal morphology [Term] id: HP:0008127 name: Bipartite calcaneus alt_id: HP:0008104 alt_id: HP:0008130 alt_id: HP:0008146 def: "A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification." [HPO:probinson] synonym: "Delayed coalescence of bipartite calcanei" EXACT [] synonym: "Delayed coalescence of calcaneal ossification centers" EXACT [] synonym: "Delayed fusion of bipartite calcanei" EXACT [] synonym: "Double calcaneal ossification center" EXACT [] synonym: "Extra calcaneal ossification center" EXACT [] xref: UMLS:C1835574 is_a: HP:0008364 ! Abnormality of the calcaneus [Term] id: HP:0008131 name: Tarsal stippling def: "The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones." [HPO:probinson] synonym: "Punctate calcifications of tarsals" EXACT [] synonym: "Punctate tarsal calcification" EXACT [] xref: UMLS:C1844848 is_a: HP:0008369 ! Abnormal tarsal ossification is_a: HP:0010766 ! Ectopic calcification is_a: HP:0031051 ! Tarsal sclerosis [Term] id: HP:0008132 name: Medial rotation of the medial malleolus xref: UMLS:C3805726 is_a: HP:0001760 ! Abnormality of the foot [Term] id: HP:0008133 name: Distal tapering of metatarsals xref: UMLS:C4024729 is_a: HP:0001832 ! Abnormal metatarsal morphology [Term] id: HP:0008134 name: Irregular tarsal ossification alt_id: HP:0008140 def: "Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones." [HPO:probinson] synonym: "Irregular ankle bone maturation" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Irregular tarsal centers" EXACT [] xref: UMLS:C4021554 xref: UMLS:C4280415 is_a: HP:0008369 ! Abnormal tarsal ossification [Term] id: HP:0008138 name: Equinus calcaneus def: "Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees." [HPO:probinson] synonym: "Equinus deformity of the calcaneus" EXACT [] synonym: "Hindfoot equinus" EXACT [] xref: UMLS:C1860449 is_a: HP:0008364 ! Abnormality of the calcaneus [Term] id: HP:0008141 name: Dislocation of toes synonym: "Dislocation of toes" EXACT layperson [] xref: SNOMEDCT_US:263030002 xref: UMLS:C0434717 is_a: HP:0001780 ! Abnormality of toe is_a: HP:0030311 ! Lower extremity joint dislocation [Term] id: HP:0008142 name: Delayed calcaneal ossification def: "Delayed maturation and calcification of the calcaneus." [HPO:probinson] synonym: "Delayed heel bone maturation" RELATED layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024728 xref: UMLS:C4280414 is_a: HP:0008103 ! Delayed tarsal ossification is_a: HP:0008364 ! Abnormality of the calcaneus [Term] id: HP:0008144 name: Flattening of the talar dome xref: UMLS:C1843986 is_a: HP:0001850 ! Abnormality of the tarsal bones [Term] id: HP:0008148 name: Impaired epinephrine-induced platelet aggregation def: "Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine." [DDD:wouwehand] xref: UMLS:C4024727 is_a: HP:0003540 ! Impaired platelet aggregation [Term] id: HP:0008150 name: Elevated serum transaminases during infections def: "Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections." [HPO:curators] xref: UMLS:C1864179 is_a: HP:0002910 ! Elevated hepatic transaminase [Term] id: HP:0008151 name: Prolonged prothrombin time alt_id: HP:0012201 def: "Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT." [HPO:probinson, PMID:26351955, PMID:29939529] comment: The prothrombin time (PT) and the activated partial thromboplastin time (APTT) are the most requested tests to investigate patients with congenital or acquired coagulopathies and drug monitoring. They are defined as the time (seconds) needed to clot platelet-poor plasma upon addition of coagulation triggers, such as tissue factor in complex with phospholipids and calcium chloride (in the PT), or negatively charged phospholipids-activators and calcium chloride (in the APTT). They can hence be considered as global coagulation tests sensitive to deficiencies of many coagulation factors. In brief, they are both sensitive to factor X, V, II and fibrinogen, whereas the PT is only sensitive to factor VII deficiency and the APTT is sensitive to pre-kallikrein, high molecular weight kininogen (HMWK), factor XII, XI, IX and VIII deficiencies. Normal plasma in the PT clots approximately within 10-12 s upon triggering coagulation, and the normal reference range is (usually) narrow. PT results have been reported as clotting time, percentage activity, PT-ratio (patient-to-normal clotting time) and as international normalized ratio (INR). The INR scale has been devised to harmonize results stemming from different thromboplastins from patients on treatment with vitamin K antagonists. Some recommend abandoning the approach of using percentage activity to assess PR. synonym: "Increased INR" EXACT HP:0045077 [] synonym: "increased international normalised ratio" EXACT HP:0045076 [] synonym: "Increased international normalized ratio" EXACT [] synonym: "Low factor II activity" EXACT [] synonym: "Prolonged PT" EXACT HP:0045077 [] synonym: "Reduced factor II activity" EXACT [] synonym: "Reduced prothrombin activity" EXACT [] xref: SNOMEDCT_US:409674002 xref: UMLS:C0151872 is_a: HP:0032199 ! Abnormal prothrombin time [Term] id: HP:0008153 name: Periodic hypokalemic paresis def: "Episodes of muscle weakness associated with reduced levels of potassium in the blood." [HPO:probinson] synonym: "Hypokalemic periodic paresis" EXACT [] xref: UMLS:C4021553 is_a: HP:0003768 ! Periodic paralysis [Term] id: HP:0008155 name: Mucopolysacchariduria alt_id: HP:0003567 def: "Excessive amounts of mucopolysaccharide in the urine." [HPO:probinson] comment: This finding is suggestive of the diagnosis of a mucopolysaccharidosis. xref: UMLS:C4024726 is_a: HP:0003541 ! Urinary glycosaminoglycan excretion [Term] id: HP:0008158 name: Hyperapobetalipoproteinemia def: "Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein." [HPO:probinson, pmid:6579550] xref: MSH:D006950 xref: SNOMEDCT_US:238040008 xref: SNOMEDCT_US:299465007 xref: UMLS:C0020474 is_a: HP:0003119 ! Abnormal circulating lipid concentration [Term] id: HP:0008160 name: 3-hydroxydicarboxylic aciduria def: "An increase in the level of 3-hydroxydicarboxylic acid in the urine." [ORCID:0000-0001-5208-3432] xref: UMLS:C4024725 is_a: HP:0003215 ! Dicarboxylic aciduria [Term] id: HP:0008161 name: Absent leukocyte alkaline phosphatase def: "A decrease in alkaline phosphatase activity measured within leukocytes below detectable levels ." [HPO:probinson] synonym: "Absent leukocyte ALP" EXACT HP:0045077 [] xref: UMLS:C4024724 is_a: HP:0004852 ! Reduced leukocyte alkaline phosphatase [Term] id: HP:0008162 name: Asymptomatic hyperammonemia def: "An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy." [HPO:probinson] synonym: "Hyperammonemia, asymptomatic" EXACT [] xref: UMLS:C4021552 is_a: HP:0001987 ! Hyperammonemia [Term] id: HP:0008163 name: Decreased circulating cortisol level alt_id: HP:0000874 alt_id: HP:0003291 alt_id: HP:0004317 alt_id: HP:0008220 def: "Abnormally reduced concentration of cortisol in the blood." [HPO:probinson] synonym: "Decreased cortisol production" EXACT [] synonym: "Glucocorticoid insufficiency" EXACT [] synonym: "Hypocortisolemia" EXACT [] synonym: "Hypocortisolism" RELATED [] synonym: "Low blood cortisol level" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Low to undetectable plasma cortisol" EXACT [] synonym: "Plasma cortisol low" EXACT [] xref: UMLS:C1833054 xref: UMLS:C1836623 xref: UMLS:C1846225 is_a: HP:0008207 ! Primary adrenal insufficiency is_a: HP:0011731 ! Abnormality of circulating cortisol level [Term] id: HP:0008165 name: Decreased proportion circulating T-helper cells def: "Reduced proportion of helper T cells relative to the total number of T cells." [HPO:probinson] xref: UMLS:C4024723 is_a: HP:0005403 ! Decrease in T cell count [Term] id: HP:0008166 name: Decreased beta-galactosidase activity alt_id: HP:0003644 alt_id: HP:0008300 def: "Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma." [HPO:gcarletti] synonym: "Beta-galactosidase deficiency in fibroblasts and white blood cells" EXACT [] synonym: "Beta-galactosidase-1 deficiency" EXACT [] synonym: "Decreased beta galactosidase activity" EXACT [] xref: MSH:D016537 xref: SNOMEDCT_US:238025006 xref: UMLS:C0085131 xref: UMLS:C1854788 xref: UMLS:C1856559 is_a: HP:0004342 ! Abnormality of galactoside metabolism [Term] id: HP:0008167 name: Very long chain fatty acid accumulation xref: UMLS:C3279397 is_a: HP:0032243 ! Abnormal tissue metabolite concentration [Term] id: HP:0008169 name: Reduced factor VII activity def: "Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X." [HPO:probinson] synonym: "Factor VII deficiency" RELATED [] xref: MSH:D005168 xref: SNOMEDCT_US:37193007 xref: UMLS:C0015503 xref: UMLS:C4024722 is_a: HP:0010988 ! Abnormality of the extrinsic pathway [Term] id: HP:0008176 name: Neonatal unconjugated hyperbilirubinemia xref: SNOMEDCT_US:281611002 xref: UMLS:C0559506 is_a: HP:0002904 ! Hyperbilirubinemia [Term] id: HP:0008178 name: Abnormal cartilage matrix xref: UMLS:C4024721 is_a: HP:0002763 ! Abnormal cartilage morphology [Term] id: HP:0008179 name: Decreased Arden ratio of electrooculogram def: "An abnormal reduction in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record." [HPO:probinson] synonym: "Decreased Arden ratio of EOG" EXACT HP:0045077 [] xref: UMLS:C4024720 is_a: HP:0030454 ! Abnormal electrooculogram [Term] id: HP:0008180 name: Mildly elevated creatine kinase alt_id: HP:0003211 comment: 'has part' some \n('increased amount' and ('inheres in' some blood) and (towards some IMR_0002602) and ('has modifier' some 'mild intensity') and ('has modifier' some abnormal)) synonym: "Mildly elevated CPK" EXACT HP:0045077 [] synonym: "Mildly elevated creatine phosphokinase" EXACT [https://orcid.org/0000-0001-7941-2961] synonym: "Mildly elevated serum CK" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] synonym: "Mildly elevated serum CPK" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] synonym: "Mildly elevated serum phospho-CK" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] synonym: "Mildly increased creatine kinase" EXACT [] synonym: "Mildly increased serum creatine kinase" EXACT [https://orcid.org/0000-0001-7941-2961] synonym: "Moderately elevated serum CK" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] synonym: "Moderately elevated serum CPK" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] synonym: "Moderately increased serum creatine kinase" EXACT [] xref: UMLS:C1850309 is_a: HP:0003236 ! Elevated serum creatine kinase [Term] id: HP:0008181 name: Abetalipoproteinemia def: "An absence of low-density lipoprotein cholesterol in the blood." [HPO:probinson] comment: Beta-lipoprotein cholesterol is a synonym for low-density lipoprotein (LDL) cholesterol. xref: MSH:D000012 xref: SNOMEDCT_US:190787008 xref: UMLS:C0000744 is_a: HP:0003563 ! Decreased LDL cholesterol concentration [Term] id: HP:0008182 name: Adrenocortical hypoplasia synonym: "Small adrenal cortex" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024719 is_a: HP:0000849 ! Adrenocortical abnormality [Term] id: HP:0008185 name: Precocious puberty in males def: "The onset of puberty before the age of 9 years in boys." [HPO:curators] synonym: "Early onset of puberty in males" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Male precocious puberty" EXACT [] xref: UMLS:C1859979 is_a: HP:0000826 ! Precocious puberty [Term] id: HP:0008186 name: Adrenocortical cytomegaly def: "The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex." [HPO:probinson] comment: This feature is common in Beckwith Wiedemann syndrome. xref: UMLS:C1851720 is_a: HP:0011732 ! Abnormality of adrenal morphology [Term] id: HP:0008187 name: Absence of secondary sex characteristics alt_id: HP:0008674 def: "No secondary sexual characteristics are present at puberty." [HPO:probinson] synonym: "No secondary sexual characteristics at puberty" EXACT [] xref: UMLS:C4021551 is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008188 name: Thyroid dysgenesis synonym: "Thyroid dysplasia" EXACT [] xref: MSH:D050033 xref: UMLS:C1563716 is_a: HP:0011772 ! Abnormality of thyroid morphology [Term] id: HP:0008189 name: Insulin insensitivity def: "Decreased sensitivity toward insulin." [HPO:probinson] xref: UMLS:C1864570 is_a: HP:0011014 ! Abnormal glucose homeostasis [Term] id: HP:0008191 name: Thyroid agenesis def: "The congenital absence of the thyroid gland." [HPO:probinson, pmid:2918525] synonym: "Athyroidal hypothyroidism" RELATED [] xref: MSH:D050033 xref: UMLS:C0749420 xref: UMLS:C4020805 is_a: HP:0008188 ! Thyroid dysgenesis [Term] id: HP:0008193 name: Primary gonadal insufficiency xref: UMLS:C1859014 is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008194 name: Multiple pancreatic beta-cell adenomas def: "The presence of multiple pancreatic islet cell adenomas." [HPO:probinsojn] xref: UMLS:C4024718 is_a: HP:0008261 ! Pancreatic islet cell adenoma [Term] id: HP:0008197 name: Absence of pubertal development xref: UMLS:C1846228 is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008198 name: Congenital hypoparathyroidism alt_id: HP:0008199 alt_id: HP:0008201 def: "Deficiency of parathyroid hormone with congenital onset." [DDD:spark, HPO:probinson] synonym: "Neonatal hypoparathyroidism" EXACT [] xref: UMLS:C1455734 is_a: HP:0000829 ! Hypoparathyroidism [Term] id: HP:0008200 name: Primary hyperparathyroidism alt_id: HP:0008254 def: "A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia." [HPO:probinson] xref: MSH:D049950 xref: SNOMEDCT_US:36348003 xref: UMLS:C0221002 is_a: HP:0000843 ! Hyperparathyroidism [Term] id: HP:0008202 name: Prolactin deficiency def: "A reduced ability to secrete prolactin, a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production." [DDD:spark, HPO:probinson] xref: MSH:C562708 xref: SNOMEDCT_US:67873006 xref: UMLS:C0271586 is_a: HP:0040086 ! Abnormal prolactin level [Term] id: HP:0008204 name: Precocious puberty with Sertoli cell tumor xref: UMLS:C1868007 is_a: HP:0000826 ! Precocious puberty is_a: HP:0100619 ! Sertoli cell neoplasm [Term] id: HP:0008205 name: Insulin-dependent but ketosis-resistant diabetes def: "Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin." [HPO:probinson] xref: UMLS:C1842404 is_a: HP:0005978 ! Type II diabetes mellitus [Term] id: HP:0008207 name: Primary adrenal insufficiency alt_id: HP:0000862 alt_id: HP:0008219 alt_id: HP:0008252 def: "Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves." [HPO:probinson] comment: Deficiency of both glucocorticoids and mineralocorticoids. synonym: "Addison disease" RELATED [] synonym: "Addison's disease" RELATED [] synonym: "Adrenocortical insufficiency" EXACT [] synonym: "Primary adrenocortical failure" EXACT [] xref: MSH:D000224 xref: SNOMEDCT_US:363732003 xref: SNOMEDCT_US:373662000 xref: SNOMEDCT_US:386584007 xref: UMLS:C0001403 xref: UMLS:C0405580 is_a: HP:0000846 ! Adrenal insufficiency [Term] id: HP:0008208 name: Parathyroid hyperplasia def: "Hyperplasia of the parathyroid gland." [HPO:probinson] comment: An absolute increase in the mass of the parenchymal cells of the parathyroid gland leading to an enlargement of the parathyroid glands. synonym: "Enlarged parathyroid glands" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:9092004 xref: UMLS:C0271844 is_a: HP:0011766 ! Abnormality of the parathyroid morphology [Term] id: HP:0008209 name: Premature ovarian insufficiency alt_id: HP:0001587 alt_id: HP:0100805 def: "Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea." [HPO:probinson] comment: The causes of primary ovarian insuficiency (POI) include chromosomal and genetic defects, autoimmune processes, chemotherapy, radiation, infections and surgery, but many are unidentified (idiopathic). The age of 40 is set by convention but is supported by clinical observations. From a statistical point of view, the age limit of 40 is approximately two standard deviations (SD) below the average age at natural menopause (50 plus/minus 4 years). synonym: "Climacterium praecox" EXACT [] synonym: "Early menopause" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hypergonadotropic amenorrhea" EXACT [] synonym: "Menopause praecox" EXACT [] synonym: "Premature menopause" EXACT layperson [] synonym: "Premature ovarian failure" EXACT layperson [] synonym: "Primary ovarian insufficiency" EXACT [] xref: MSH:D008594 xref: MSH:D016649 xref: SNOMEDCT_US:373717006 xref: UMLS:C0025322 xref: UMLS:C0085215 is_a: HP:0031066 ! Abnormal ovarian physiology [Term] id: HP:0008211 name: Parathyroid agenesis def: "Aplasia of the parathyroid gland." [HPO:probinson] synonym: "Parathyroid absence" EXACT [] synonym: "Parathyroid aplasia" EXACT [] xref: MSH:C563238 xref: SNOMEDCT_US:73291005 xref: UMLS:C1321907 is_a: HP:0011768 ! Parathyroid dysgenesis [Term] id: HP:0008213 name: Gonadotropin deficiency alt_id: HP:0008192 def: "A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH)." [DDD:spark] synonym: "Pituitary gonadotropin deficiency" EXACT [] xref: MSH:D007006 xref: SNOMEDCT_US:33927004 xref: UMLS:C0271623 is_a: HP:0000830 ! Anterior hypopituitarism [Term] id: HP:0008214 name: Decreased serum estradiol def: "A reduction below normal concentration of estradiol in the circulation." [] synonym: "Decreased serum estradiol" EXACT layperson [] xref: SNOMEDCT_US:166449002 xref: UMLS:C0241011 is_a: HP:0025133 ! Abnormal serum estradiol [Term] id: HP:0008216 name: Adrenal gland dysgenesis def: "Abnormal development of the adrenal gland." [DDD:spark] synonym: "Adrenal gland dysplasia" EXACT [] synonym: "Dysplastic adrenal glands" EXACT [] xref: UMLS:C1856017 is_a: HP:0011732 ! Abnormality of adrenal morphology [Term] id: HP:0008221 name: Adrenal hyperplasia def: "Enlargement of the adrenal gland." [DDD:spark] synonym: "Enlarged adrenal glands" EXACT layperson [] xref: SNOMEDCT_US:419920004 xref: UMLS:C1621895 is_a: HP:0011732 ! Abnormality of adrenal morphology [Term] id: HP:0008222 name: Female infertility synonym: "Female infertility" EXACT layperson [] xref: MSH:D007247 xref: SNOMEDCT_US:6738008 xref: UMLS:C0021361 is_a: HP:0000789 ! Infertility is_a: HP:0000868 ! Decreased fertility in females [Term] id: HP:0008223 name: Compensated hypothyroidism def: "Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4)." [PMID:28406057] synonym: "Mild hypothyroidism" EXACT [] synonym: "Subclinical hypothyroidism" EXACT [PMID:28406057] xref: SNOMEDCT_US:237523006 xref: UMLS:C0342162 is_a: HP:0000821 ! Hypothyroidism [Term] id: HP:0008225 name: Thyroid follicular hyperplasia xref: UMLS:C1969546 is_a: HP:0008249 ! Thyroid hyperplasia [Term] id: HP:0008226 name: Androgen insufficiency def: "Insufficient amount of androgenic activity." [HPO:probinson] synonym: "Hypoandrogenism" EXACT [] xref: SNOMEDCT_US:38825009 xref: UMLS:C0342527 is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008227 name: Pituitary resistance to thyroid hormone def: "A condition in which the pituitary gland is partially resistant to thyroid hormone, so that it continues to secrete thyroid-stimulating hormone (TSH) until the blood level of thyroid hormone rises higher than normal." [HPO:curators] xref: SNOMEDCT_US:360348000 xref: SNOMEDCT_US:360353005 xref: UMLS:C0342198 is_a: HP:0011747 ! Abnormality of the anterior pituitary [Term] id: HP:0008229 name: Thyroid lymphangiectasia alt_id: HP:0008235 def: "The presence of lymphangiectasis of the thyroid gland." [HPO:probinson] comment: A stretching and widening of the lymphatic vessels of the thyroid gland. synonym: "Thyroid lymphangiectasis" EXACT [] xref: UMLS:C1856129 is_a: HP:0011772 ! Abnormality of thyroid morphology is_a: HP:0031842 ! Lymphangiectasis [Term] id: HP:0008230 name: obsolete Decreased testosterone in males is_obsolete: true replaced_by: HP:0040171 created_by: HPO:skoehler [Term] id: HP:0008231 name: Macronodular adrenal hyperplasia xref: SNOMEDCT_US:237778003 xref: UMLS:C0342495 is_a: HP:0008221 ! Adrenal hyperplasia [Term] id: HP:0008232 name: Elevated circulating follicle stimulating hormone level alt_id: HP:0008324 def: "An elevated concentration of follicle-stimulating hormone in the blood." [HPO:probinson] synonym: "Elevated follicle stimulating hormone" EXACT [] synonym: "Elevated follicle-stimulating hormone" EXACT [] synonym: "Elevated FSH level" EXACT HP:0045077 [] synonym: "Elevated plasma follicle stimulating hormone" EXACT [] synonym: "Increased circulating follicle stimulating hormone level" EXACT [] xref: UMLS:C4021550 is_a: HP:0000837 ! Increased circulating gonadotropin level is_a: HP:0030346 ! Abnormal circulating follicle-stimulating hormone level [Term] id: HP:0008233 name: Decreased circulating progesterone def: "An reduced concentration of progesterone in the blood." [] comment: Progesterone is a steroid hormone secreted by the corpus luteum after ovulation during the second half of the menstrual cycle. synonym: "Decreased serum progesterone" EXACT layperson [] xref: UMLS:C1858995 is_a: HP:0031212 ! Abnormal circulating progesterone level [Term] id: HP:0008236 name: Isosexual precocious puberty xref: SNOMEDCT_US:4294006 xref: UMLS:C0271528 is_a: HP:0000826 ! Precocious puberty [Term] id: HP:0008237 name: Hypothalamic hypothyroidism def: "A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity." [HPO:probinson, pmid:18731015] comment: The simultaneous occurrence a low thyroid hormone level and a normal or low serum level of thyroid stimulating hormone (TSH) in a patient with hypothyroidism establishes the diagnosis of secondary hypothyroidism. The administration of thyrotropin releasing hormone (TRH), which is normally synthesized and released by the hypothalamus, enables the physician to distinguish between pituitary and hypothalamic causes of hypothyroidism.\nTRH will normally cause the release of TSH from the pituitary gland. When the hypothalamus does not synthesize or release TRH, the administration of exogenous TRH will result in prompt rise of serum TSH. To date, the cases reported of pituitary hypothyroidism. Hypothalamic hypothyroidism, on the other hand, may either be idiopathic or result from demonstrable hypothalamic disease. synonym: "Tertiary hypothyroidism" EXACT [] xref: SNOMEDCT_US:37429009 xref: UMLS:C0220998 is_a: HP:0011787 ! Central hypothyroidism is_a: HP:0012285 ! Abnormal hypothalamus physiology [Term] id: HP:0008239 name: Adrenal medullary hypoplasia def: "Developmental hypoplasia of the adrenal medulla." [HPO:probinson] synonym: "Small adrenal medulla" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4024717 is_a: HP:0000835 ! Adrenal hypoplasia [Term] id: HP:0008240 name: Secondary growth hormone deficiency xref: UMLS:C4024716 is_a: HP:0000824 ! Growth hormone deficiency [Term] id: HP:0008242 name: Pseudohypoaldosteronism alt_id: HP:0008228 def: "A state of renal tubular unresponsiveness or resistance to the action of aldosterone." [HPO:probinson] comment: Pseudohypoaldosteronism is characterized by hyperkalemia, metabolic acidosis, and normal glomerular filtration rate. This term refers to the phenotypic finding of pseudohypoaldosteronism rather than the disease of idiopathic pseudohypoaldosteronism. xref: MSH:D011546 xref: SNOMEDCT_US:77098009 xref: UMLS:C0033805 is_a: HP:0011733 ! Abnormality of adrenal physiology [Term] id: HP:0008244 name: Congenital adrenal hypoplasia alt_id: HP:0008246 def: "A type of adrenal hypoplasia with congenital onset." [HPO:probinson] synonym: "Congenital adrenal gland hypoplasia" EXACT [] xref: SNOMEDCT_US:93235007 xref: UMLS:C0220766 is_a: HP:0000835 ! Adrenal hypoplasia [Term] id: HP:0008245 name: Pituitary hypothyroidism alt_id: HP:0008248 def: "A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion." [HPO:probinson] synonym: "Low thyroid gland function due to abnormal pituitary gland" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Secondary hypothyroidism" EXACT [] synonym: "Thyroid stimulating hormone deficiency" EXACT [] synonym: "Thyrotropin deficiency" EXACT [] synonym: "TSH deficient hypothyroidism" EXACT [] xref: SNOMEDCT_US:82598004 xref: UMLS:C3665349 is_a: HP:0000830 ! Anterior hypopituitarism is_a: HP:0011787 ! Central hypothyroidism [Term] id: HP:0008247 name: Euthyroid hyperthyroxinemia alt_id: HP:0008212 def: "An abnormality of thyroid physiology (HP:0002926) characterized by increased levels of thyroxine without evidence of clinical thyroid disease." [eMedicine:118562, HPO:probinson] comment: Any functional abnormality of the thyroid gland and the systems that control its rate of production of thyroid hormone (hypothalamic-pituitary-thyroid axis) and the peripheral reactivity to thyroid hormone. synonym: "Asymptomatic hyperthyroxinemia" EXACT [] xref: UMLS:C4021549 is_a: HP:0002926 ! Abnormality of thyroid physiology [Term] id: HP:0008249 name: Thyroid hyperplasia def: "Hyperplasia of the thyroid gland." [HPO:probinson] synonym: "Large thyroid" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1112776 is_a: HP:0011772 ! Abnormality of thyroid morphology [Term] id: HP:0008250 name: Infantile hypercalcemia xref: MSH:C562999 xref: SNOMEDCT_US:276645004 xref: UMLS:C0475732 is_a: HP:0003072 ! Hypercalcemia [Term] id: HP:0008251 name: Congenital goiter def: "An enlargement of the thyroid gland with congenital onset." [HPO:probinson] xref: SNOMEDCT_US:276565004 xref: UMLS:C0349476 is_a: HP:0000853 ! Goiter [Term] id: HP:0008255 name: Transient neonatal diabetes mellitus xref: SNOMEDCT_US:237603002 xref: UMLS:C0342273 is_a: HP:0000857 ! Neonatal insulin-dependent diabetes mellitus [Term] id: HP:0008256 name: Adrenocortical adenoma alt_id: HP:0008196 def: "Adrenocortical adenomas are benign tumors of the adrenal cortex." [HPO:probinson, pmid:17287480] synonym: "Adrenocortical adenomas" EXACT [] xref: MSH:D018246 xref: SNOMEDCT_US:18365006 xref: SNOMEDCT_US:255036008 xref: SNOMEDCT_US:302826002 xref: UMLS:C0206667 is_a: HP:0100641 ! Neoplasm of the adrenal cortex [Term] id: HP:0008258 name: Congenital adrenal hyperplasia def: "A type of adrenal hyperplasia with congenital onset." [HPO:probinson] xref: MSH:D000312 xref: SNOMEDCT_US:237751000 xref: UMLS:C0001627 is_a: HP:0008221 ! Adrenal hyperplasia [Term] id: HP:0008259 name: Adrenocorticotropin receptor defect def: "Adrenal insufficiency secondary to a defect in the ACTH receptor." [DDD:spark] synonym: "ACTH receptor defect" EXACT [] synonym: "ACTHR defect" EXACT [] synonym: "Adrenocorticotropic hormone-resistant adrenal insufficiency" EXACT [] xref: UMLS:C4021548 is_a: HP:0011734 ! Central adrenal insufficiency [Term] id: HP:0008261 name: Pancreatic islet cell adenoma def: "The presence of an adenoma of the pancreas with origin in a pancreatic B cell." [HPO:probinson] xref: UMLS:C1851697 is_a: HP:0002894 ! Neoplasm of the pancreas is_a: HP:0006476 ! Abnormality of the pancreatic islet cells is_a: HP:0030405 ! Pancreatic endocrine tumor [Term] id: HP:0008263 name: Thyroid defect in oxidation and organification of iodide xref: UMLS:C1848800 is_a: HP:0002926 ! Abnormality of thyroid physiology [Term] id: HP:0008264 name: Neutrophil inclusion bodies alt_id: HP:0001932 def: "The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies." [HPO:probinson] xref: UMLS:C4021547 is_a: HP:0011992 ! Abnormality of neutrophil morphology [Term] id: HP:0008265 name: Mitochondrial lysine transport defect xref: UMLS:C4024715 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0008269 name: Increased red cell hemolysis by shear stress xref: UMLS:C3806125 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0008271 name: Abnormal cartilage collagen def: "Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix." [HPO:probinson, pmid:11879535, pmid:7757081, pmid:9468540] synonym: "Abnormal hyaline collagen" RELATED [] synonym: "Abnormal type II collagen" RELATED [] xref: UMLS:C4020803 xref: UMLS:C4020804 xref: UMLS:C4021847 is_a: HP:0002763 ! Abnormal cartilage morphology [Term] id: HP:0008272 name: Renal tubular lysine transport defect xref: UMLS:C4024714 is_a: HP:0000124 ! Renal tubular dysfunction [Term] id: HP:0008273 name: Transient aminoaciduria xref: UMLS:C4024713 is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0008275 name: Abnormal light-adapted electroretinogram synonym: "Abnormal cone-mediated electroretinogram" EXACT [] xref: UMLS:C4024712 is_a: HP:0030466 ! Abnormal full-field electroretinogram [Term] id: HP:0008277 name: Abnormal blood zinc concentration def: "An abnormality of zinc ion homeostasis." [HPO:probinson] synonym: "Abnormal zinc metabolism" RELATED [] synonym: "Abnormality of zinc homeostasis" EXACT [] xref: UMLS:C4020802 xref: UMLS:C4024711 is_a: HP:0011030 ! Abnormal blood transition element cation concentration [Term] id: HP:0008278 name: Cerebellar cortical atrophy def: "Atrophy (wasting) of the cerebellar cortex." [HPO:probinson] comment: Cerebellar cortical atrophy may be associated with vacuolated or binucleated Purkinje cells. synonym: "Cerebellar cortex degeneration" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4024710 is_a: HP:0001272 ! Cerebellar atrophy [Term] id: HP:0008279 name: Transient hyperlipidemia xref: UMLS:C1850722 is_a: HP:0003077 ! Hyperlipidemia [Term] id: HP:0008281 name: Acute hyperammonemia def: "An increased concentration of ammonia in the blood with sudden onset." [HPO:probinson] synonym: "Hyperammonemia, acute" EXACT [] xref: UMLS:C1859506 is_a: HP:0001987 ! Hyperammonemia [Term] id: HP:0008282 name: Unconjugated hyperbilirubinemia alt_id: HP:0008289 def: "An increased amount of unconjugated (indirect) bilurubin in the blood." [HPO:probinson] xref: SNOMEDCT_US:7752002 xref: UMLS:C0268306 is_a: HP:0002904 ! Hyperbilirubinemia [Term] id: HP:0008283 name: Fasting hyperinsulinemia def: "An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake." [HPO:probinson] synonym: "High blood insulin levels while fasting" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1864954 is_a: HP:0000842 ! Hyperinsulinemia [Term] id: HP:0008285 name: Transient hypophosphatemia xref: UMLS:C4024709 is_a: HP:0002148 ! Hypophosphatemia [Term] id: HP:0008288 name: Nonketotic hyperglycinemia xref: MSH:D020158 xref: SNOMEDCT_US:237939006 xref: UMLS:C0751748 is_a: HP:0002154 ! Hyperglycinemia [Term] id: HP:0008290 name: Partial complement factor H deficiency def: "A partial reduction in level of the complement component Factor H in circulation." [https://emedicine.medscape.com/article/135478-overview] xref: UMLS:C4024708 is_a: HP:0005369 ! Decreased serum complement factor H [Term] id: HP:0008291 name: Pituitary corticotropic cell adenoma def: "A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH)." [DDD:spark, HPO:probinson] synonym: "ACTH-producing pituitary adenoma" EXACT [] synonym: "Corticotropin-secreting pituitary adenoma" EXACT [] xref: MSH:D049913 xref: SNOMEDCT_US:21109002 xref: SNOMEDCT_US:254958004 xref: UMLS:C1306214 is_a: HP:0002893 ! Pituitary adenoma [Term] id: HP:0008293 name: Long-chain dicarboxylic aciduria def: "An increase in the level of long-chain dicarboxylic acid in the urine." [ORCID:0000-0001-5208-3432] xref: UMLS:C1837273 is_a: HP:0003215 ! Dicarboxylic aciduria [Term] id: HP:0008297 name: Transient hyperphenylalaninemia def: "A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine)." [HPO:probinson] xref: SNOMEDCT_US:28575006 xref: UMLS:C0268464 is_a: HP:0010893 ! Abnormal circulating phenylalanine concentration [Term] id: HP:0008301 name: Dermatan sulfate excretion in urine def: "An increased concentration of dermatan sulfate in the urine." [HPO:gcarletti] comment: Dermatan sulfate is a a glycosaminoglycan (mucopolysaccharide) found in skin, blood vessels, heart valves, tendons, and lungs. xref: UMLS:C1854774 is_a: HP:0008155 ! Mucopolysacchariduria [Term] id: HP:0008303 name: Olivary degeneration def: "Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata." [HPO:probinson] xref: UMLS:C4024707 is_a: HP:0011441 ! Abnormality of the medulla oblongata [Term] id: HP:0008305 name: Exercise-induced myoglobinuria alt_id: HP:0008319 def: "Presence of myoglobin in the urine following exercise." [HPO:probinson] synonym: "Exercise-induced myoglobinuria in adults" RELATED [] xref: UMLS:C1845155 xref: UMLS:C1860069 is_a: HP:0002913 ! Myoglobinuria [Term] id: HP:0008306 name: Abnormal iron deposition in mitochondria xref: UMLS:C3151556 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0008309 name: Medium chain dicarboxylic aciduria def: "An increase in the level of medium chain dicarboxylic acid in the urine." [ORCID:0000-0001-5208-3432] xref: UMLS:C1860081 is_a: HP:0003215 ! Dicarboxylic aciduria [Term] id: HP:0008311 name: Spinal cord posterior columns myelin loss xref: UMLS:C4024706 is_a: HP:0002143 ! Abnormality of the spinal cord is_a: HP:0007305 ! CNS demyelination [Term] id: HP:0008314 name: Decreased activity of mitochondrial complex II def: "A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria." [HPO:probinson] synonym: "Respiratory complex II deficiency" RELATED [] xref: UMLS:C4020801 xref: UMLS:C4024705 is_a: HP:0008972 ! Decreased activity of mitochondrial respiratory chain [Term] id: HP:0008315 name: Decreased plasma free carnitine def: "A decreased concentration of free (unbound) carnitine in the blood." [HPO:probinson] xref: UMLS:C4015009 is_a: HP:0003234 ! Decreased plasma carnitine [Term] id: HP:0008316 name: Abnormal mitochondria in muscle tissue def: "An abnormality of the mitochondria in muscle tissue." [HPO:probinson] comment: This finding is typically demonstrated by muscle biopsy. synonym: "Abnormal mitochondria in muscle" EXACT [] xref: UMLS:C4021546 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism is_a: HP:0011805 ! Abnormal muscle morphology [Term] id: HP:0008318 name: Elevated leukocyte alkaline phosphatase def: "An increased alkaline phosphatase activity measured within leukocytes." [HPO:probinson] synonym: "Elevated leukocyte ALP" EXACT HP:0045077 [] xref: UMLS:C4024704 is_a: HP:0003155 ! Elevated alkaline phosphatase [Term] id: HP:0008320 name: Impaired collagen-induced platelet aggregation def: "Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics." [DDD:kfreson] xref: UMLS:C4024703 is_a: HP:0003540 ! Impaired platelet aggregation [Term] id: HP:0008321 name: Reduced factor X activity def: "Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa)." [HPO:probinson] synonym: "Decreased factor x activity" EXACT [ORCID:0000-0001-6908-9849] synonym: "Factor X deficiency" RELATED [] xref: MSH:D005171 xref: SNOMEDCT_US:76642003 xref: UMLS:C0015519 xref: UMLS:C4024702 is_a: HP:0010990 ! Abnormality of the common coagulation pathway [Term] id: HP:0008322 name: Abnormal mitochondrial morphology def: "Any structural anomaly of the mitochondria." [HPO:probinson] comment: This feature may be assessed by means of electron microscopy. synonym: "Abnormal mitochondrion morphology" EXACT [] xref: UMLS:C4014650 is_a: HP:0012103 ! Abnormality of the mitochondrion [Term] id: HP:0008323 name: Abnormal light- and dark-adapted electroretinogram def: "An abnormality of the combined rod-and-code response on electroretinogram." [HPO:probinson] comment: The dark-adapted 3.0 ERG can be used to elicit a combined rod-cone response. synonym: "Abnormal rod and cone electroretinogram" EXACT [] xref: UMLS:C3151111 is_a: HP:0030466 ! Abnormal full-field electroretinogram [Term] id: HP:0008326 name: Reduced circulating vitamin B6 level def: "An abnormally decreased concentration of vitamin B6 in the blood circulation." [] synonym: "Reduced vitamin b6 levels" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Vitamin B6 deficiency" EXACT layperson [] xref: MSH:D026681 xref: SNOMEDCT_US:386080007 xref: UMLS:C0936215 is_a: HP:0032476 ! Abnormal circulating vitamin B6 level [Term] id: HP:0008327 name: Microscopic nephrocalcinosis def: "The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma." [HPO:probinson] comment: The qualifier microscopic is used to indicate that the nephrocalcinosis cannot be observed on visual or radiologic examination without further magnification (as can macroscopic nephrocalcinosis). xref: SNOMEDCT_US:236444003 xref: UMLS:C0403474 is_a: HP:0000121 ! Nephrocalcinosis [Term] id: HP:0008330 name: Reduced von Willebrand factor activity def: "Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces." [HPO:probinson, pmid:19694940] comment: Von Willebrand factor (VWF) is a key hemostatic protein, but documenting its function through laboratory tests is not always straightforward. VWF serves as a carrier protein for factor VIII (FVIII), and also facilitates platelet adhesion through its interaction with platelet GPIb on the platelet surface and through its binding to the subendothelial matrix. This interaction is driven in vivo by shear stress, which induces a conformational change in VWF that allows it to bind platelet GPIb. In vitro, however, this interaction is induced by the antibiotic ristocetin, which enables VWF and platelet GPIb to interact in the absence of shear forces. Laboratory testing of VWF utilizes ristocetin in the VWF ristocetin cofactor activity assay (VWF:RCo), which is a measure of VWF binding to platelets, or by ristocetin-induced platelet aggregation (RIPA). synonym: "Decreased von willebrand factor activity" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4024701 is_a: HP:0012146 ! Abnormality of von Willebrand factor [Term] id: HP:0008331 name: Elevated creatine kinase after exercise synonym: "Elevated CK after exercise" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] synonym: "Elevated CPK after exercise" EXACT HP:0045077 [] synonym: "Elevated creatine phosphokinase after exercise" EXACT [https://en.wikipedia.org/wiki/creatine_kinase, ORCID:0000-0001-6908-9849] synonym: "Elevated phospho-CK after exercise" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] synonym: "Elevated phospho-creatine kinase after exercise" EXACT [https://en.wikipedia.org/wiki/creatine_kinase, ORCID:0000-0001-6908-9849] synonym: "Increased CK after exercise" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] synonym: "Increased creatine kinase after exercise" EXACT [ORCID:0000-0001-6908-9849] synonym: "Increased creatine phosphokinase after exercise" EXACT [ORCID:0000-0001-6908-9849] synonym: "Increased phospho-CK after exercise" EXACT [http://purl.obolibrary.org/obo/HP_0045077, https://orcid.org/0000-0001-7941-2961] synonym: "Increased phospho-creatine kinase after exercise" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4024700 is_a: HP:0003236 ! Elevated serum creatine kinase [Term] id: HP:0008335 name: Renal aminoaciduria def: "An increased concentration of an amino acid in the urine, due to a decreased kidney functionality ." [HPO:gcarletti, HPO:probinson] comment: Renal aminoaciduria is characterized by the abnormally elevated levels of amino acids in the urine, and is usually related to genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. This term does not refer directly to the group of corresponding disease entities but rather to the finding of elevated levels of amino acids in the urine which is inferred to be related to a renal defect rather than to a primary defect of aminoacid metabolism on the basis of other findings. xref: MSH:D000608 xref: UMLS:C0002534 is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0008336 name: Complex organic aciduria xref: UMLS:C3151953 is_a: HP:0001992 ! Organic aciduria is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0008338 name: Partial functional complement factor D deficiency def: "A partial reduction in level of the complement component Factor D in circulation." [] synonym: "Partial functional adipsin deficiency" EXACT [https://en.wikipedia.org/wiki/Factor_D, ORCID:0000-0001-6908-9849] synonym: "Partial functional factor d deficiency" EXACT [https://en.wikipedia.org/wiki/factor_d, ORCID:0000-0001-6908-9849] xref: UMLS:C4024699 is_a: HP:0004431 ! Complement deficiency [Term] id: HP:0008339 name: Diaminoaciduria xref: UMLS:C4024698 is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0008341 name: Distal renal tubular acidosis def: "A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia." [HPO:probinson] synonym: "Renal tubular acidosis, type I" EXACT [] xref: MSH:D000141 xref: SNOMEDCT_US:236461000 xref: SNOMEDCT_US:86210009 xref: UMLS:C1704380 is_a: HP:0001947 ! Renal tubular acidosis [Term] id: HP:0008344 name: Elevated plasma branched chain amino acids def: "An increased concentration of a branched chain amino acid in the blood." [HPO:gcarletti] xref: UMLS:C4024697 is_a: HP:0010892 ! Abnormal circulating branched chain amino acid concentration [Term] id: HP:0008345 name: Hypoplasia of the iris dilator muscle def: "Underdevelopment of the dilatator pupillae." [HPO:probinson] synonym: "Hypoplasia of the pupil dilator muscle" EXACT [ORCID:0000-0001-6908-9849] synonym: "Underdeveloped iris dilator muscle" EXACT [ORCID:0000-0001-6908-9849] synonym: "Underdeveloped pupil dilator muscle" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4024696 is_a: HP:0007676 ! Hypoplasia of the iris [Term] id: HP:0008346 name: Increased red cell sickling tendency synonym: "Increased sickling of erythrocytes" EXACT [ORCID:0000-0001-6908-9849] synonym: "Increased sickling of red cells" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4024695 is_a: HP:0011895 ! Anemia due to reduced life span of red cells [Term] id: HP:0008347 name: Decreased activity of mitochondrial complex IV def: "A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria." [HPO:probinson] synonym: "Respiratory complex IV deficiency" RELATED [] xref: UMLS:C4020800 is_a: HP:0008972 ! Decreased activity of mitochondrial respiratory chain [Term] id: HP:0008348 name: Decreased circulating IgG2 level alt_id: HP:0008310 def: "A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation." [HPO:probinson] synonym: "Immunoglobulin IgG2 deficiency" EXACT [] synonym: "Reduced IgG2 levels" EXACT [] xref: UMLS:C4021545 is_a: HP:0032135 ! Decreased circulating IgG subclass level [Term] id: HP:0008352 name: Impaired platelet adhesion def: "An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation." [HPO:probinson] synonym: "Impaired thrombocytes adhesion" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4024694 is_a: HP:0011869 ! Abnormal platelet function [Term] id: HP:0008353 name: Neutral hyperaminoaciduria def: "The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine." [PMID:30177408] xref: UMLS:C1856194 is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0008354 name: Factor X activation deficiency def: "Reduced ability to transform factor X into its activated form factor Xa." [HPO:probinson] xref: UMLS:C4024693 is_a: HP:0008321 ! Reduced factor X activity [Term] id: HP:0008356 name: obsolete Combined hyperlipidemia is_obsolete: true consider: HP:0003077 [Term] id: HP:0008357 name: Reduced factor XIII activity def: "Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot." [HPO:probinson] xref: UMLS:C4024692 is_a: HP:0010990 ! Abnormality of the common coagulation pathway [Term] id: HP:0008358 name: Hyperprolinemia def: "An increased concentration of proline in the blood." [HPO:gcarletti] synonym: "Prolinemia" EXACT [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:59655002 xref: UMLS:C0268528 is_a: HP:0010907 ! Abnormal circulating proline concentration [Term] id: HP:0008360 name: Neonatal hypoproteinemia def: "A neonatal decreased concentration of proteins in the blood." [HPO:gcarletti] xref: UMLS:C4024691 is_a: HP:0003075 ! Hypoproteinemia [Term] id: HP:0008361 name: Corticospinal tract pallor xref: UMLS:C4024690 is_a: HP:0002492 ! Abnormality of the corticospinal tract [Term] id: HP:0008362 name: Aplasia/Hypoplasia of the hallux alt_id: HP:0004694 alt_id: HP:0008118 alt_id: HP:0008126 def: "Absence or underdevelopment of the big toe." [HPO:curators] synonym: "Absent/small big toe" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Absent/underdeveloped big toe" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Aplastic/hypoplastic halluces" EXACT [] xref: UMLS:C1836213 is_a: HP:0001844 ! Abnormality of the hallux is_a: HP:0010760 ! Absent toe created_by: peter creation_date: 2008-04-04T11:33:00Z [Term] id: HP:0008363 name: Aplasia/Hypoplasia of the tarsal bones alt_id: HP:0008109 def: "Absence or underdevelopment of the tarsal bones." [HPO:curators] synonym: "Absent/small ankle bone" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Absent/underdeveloped ankle bone" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Aplastic/hypoplastic tarsals" EXACT [] xref: UMLS:C1848671 is_a: HP:0001850 ! Abnormality of the tarsal bones is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet created_by: peter creation_date: 2008-04-04T11:35:00Z [Term] id: HP:0008364 name: Abnormality of the calcaneus def: "An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel." [HPO:probinson] synonym: "Abnormal heel bone" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024689 is_a: HP:0001850 ! Abnormality of the tarsal bones created_by: peter creation_date: 2008-04-04T11:38:00Z [Term] id: HP:0008365 name: Abnormality of the talus def: "An abnormality of the talus." [HPO:probinson] synonym: "Abnormal large bone of ankle" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024688 is_a: HP:0001850 ! Abnormality of the tarsal bones created_by: peter creation_date: 2008-04-04T11:43:00Z [Term] id: HP:0008366 name: Contractures involving the joints of the feet synonym: "Contractures of the foot joints" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:239742004 xref: UMLS:C0343149 is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0005750 ! Contractures of the joints of the lower limbs created_by: peter creation_date: 2008-04-04T11:44:00Z [Term] id: HP:0008368 name: Tarsal synostosis alt_id: HP:0001851 alt_id: HP:0001957 alt_id: HP:0008092 alt_id: HP:0100330 def: "Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones)." [HPO:probinson] synonym: "Fused ankle bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Synostosis involving tarsal bones" EXACT [] synonym: "Synostosis of tarsal bones" EXACT [] synonym: "Tarsal bone fusion" EXACT [] synonym: "Tarsal bone synostosis" EXACT [] synonym: "Tarsal fusion" EXACT [] synonym: "Tarsal fusions" EXACT [] xref: MSH:D000070604 xref: SNOMEDCT_US:27173008 xref: UMLS:C0265654 is_a: HP:0001850 ! Abnormality of the tarsal bones is_a: HP:0009140 ! Synostosis involving bones of the feet is_a: HP:0100266 ! Synostosis of carpals/tarsals created_by: peter creation_date: 2008-04-04T11:52:00Z [Term] id: HP:0008369 name: Abnormal tarsal ossification def: "An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones." [HPO:probinson] synonym: "Abnormal maturation of ankle bones" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormal ossification of tarsal bones" EXACT [] synonym: "Hardening of ankle bones" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4021544 xref: UMLS:C4025075 is_a: HP:0001850 ! Abnormality of the tarsal bones is_a: HP:0010675 ! Abnormal foot bone ossification created_by: peter creation_date: 2008-04-04T11:53:00Z [Term] id: HP:0008371 name: Abnormal metatarsal ossification def: "Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years." [HPO:probinson] synonym: "Abnormal maturation of long bone of foot" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormal ossification involving metatarsal bones" EXACT [] xref: UMLS:C4021543 is_a: HP:0001832 ! Abnormal metatarsal morphology is_a: HP:0010675 ! Abnormal foot bone ossification created_by: peter creation_date: 2008-04-04T11:59:00Z [Term] id: HP:0008372 name: Abnormality of vitamin A metabolism xref: UMLS:C4024686 is_a: HP:0100508 ! Abnormality of vitamin metabolism created_by: peter creation_date: 2008-04-04T12:29:00Z [Term] id: HP:0008373 name: Puberty and gonadal disorders alt_id: HP:0000827 synonym: "Puberty and gonadal disorders" EXACT layperson [] xref: UMLS:C4024685 is_a: HP:0000818 ! Abnormality of the endocrine system created_by: peter creation_date: 2008-04-04T12:35:00Z [Term] id: HP:0008376 name: Nasal, dysarthic speech synonym: "Breathy speech" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1834664 is_a: HP:0001260 ! Dysarthria [Term] id: HP:0008383 name: Slow-growing nails alt_id: HP:0008411 def: "Nails whose growth is slower than normal." [HPO:probinson] synonym: "Slow-growing nails" EXACT layperson [] xref: UMLS:C1835238 is_a: HP:0030807 ! Abnormal nail growth [Term] id: HP:0008386 name: Aplasia/Hypoplasia of the nails alt_id: HP:0008385 def: "Aplasia or developmental hypoplasia of the nail." [HPO:probinson] synonym: "Absent/hypoplastic nails" EXACT [] synonym: "Absent/small nails" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Absent/underdeveloped nails" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Nail aplasia/hypoplasia" EXACT [] xref: UMLS:C1859077 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0008388 name: Abnormal toenail morphology def: "An anomaly of the toenail." [HPO:probinson] synonym: "Abnormality of the toenail" EXACT layperson [] synonym: "Abnormality of the toenails" EXACT layperson [] xref: SNOMEDCT_US:700189007 xref: UMLS:C3839753 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0008390 name: Recurrent loss of toenails and fingernails def: "Recurrent loss, or shedding, of the nails of the fingers and toes." [DDD:cmoss] synonym: "Recurrent loss of toenails and fingernails" EXACT layperson [] synonym: "Recurrent shedding of toenails and fingernails" EXACT layperson [] xref: UMLS:C4021542 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0008391 name: Dystrophic fingernails def: "The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate." [HPO:probinson] synonym: "Poor fingernail formation" EXACT layperson [http://naildystrophy.com/, ORCID:0000-0001-5208-3432] xref: UMLS:C3551426 is_a: HP:0001231 ! Abnormal fingernail morphology is_a: HP:0008404 ! Nail dystrophy [Term] id: HP:0008392 name: Subungual hyperkeratosis def: "A thickening of the stratum corneum in the region beneath the nails." [HPO:probinson] synonym: "Thickened, discolored skin under nail" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:10165000 xref: UMLS:C0038605 is_a: HP:0000962 ! Hyperkeratosis is_a: HP:0009723 ! Abnormality of the subungual region [Term] id: HP:0008393 name: Congenital curved nail of fourth toe xref: UMLS:C4024684 is_a: HP:0008388 ! Abnormal toenail morphology [Term] id: HP:0008394 name: Congenital onychodystrophy synonym: "Congenital malformed nails" BROAD layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1393669 xref: UMLS:C4280413 is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0008396 name: Chronic monilial nail infection def: "Chronic infection of the nails by Candida species." [HPO:probinson] xref: UMLS:C4024683 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0008398 name: Hypoplastic fifth fingernail alt_id: HP:0200103 def: "A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger." [HPO:probinson] synonym: "Underdeveloped fifth fingernail" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Underdeveloped fingernail of little finger" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Underdeveloped fingernail of pinkie finger" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Underdeveloped fingernail of pinky finger" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024682 is_a: HP:0001804 ! Hypoplastic fingernail [Term] id: HP:0008399 name: Circumungual hyperkeratosis def: "A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails." [HPO:probinson] synonym: "Thick skin around nails" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024681 is_a: HP:0000962 ! Hyperkeratosis is_a: HP:0100803 ! Abnormality of the periungual region [Term] id: HP:0008400 name: Onycholysis of distal fingernails def: "Detachment of the distal fingernails from the nail bed." [HPO:probinson] synonym: "Detachment of outermost fingernails" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024680 is_a: HP:0040039 ! Onycholysis of fingernails [Term] id: HP:0008401 name: Onychogryposis of toenails alt_id: HP:0008395 alt_id: HP:0008405 def: "Thickened toenails." [HPO:probinson] synonym: "Overgrowth and curving of toenails" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024679 is_a: HP:0001805 ! Onychogryposis [Term] id: HP:0008402 name: Ridged fingernail def: "Longitudinal, linear prominences in the fingernail plate." [HPO:probinson, pmid:19125433] synonym: "Longitudinally grooved fingernails" EXACT layperson [] synonym: "Ridged fingernail" EXACT layperson [] synonym: "Ridged fingernails" RELATED layperson [HPO:skoehler] xref: UMLS:C1849392 is_a: HP:0001231 ! Abnormal fingernail morphology [Term] id: HP:0008404 name: Nail dystrophy alt_id: HP:0008382 alt_id: HP:0008397 alt_id: HP:0008408 def: "Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate." [pmid:19675700] comment: Onychodystrophy is a widely used, yet rarely defined term. Onychodystrophy can be caused by congenital nail diseases, systemic disorders, fungal and nonfungal infections, various noninfectious inflammatory dermatologic diseases of the nail unit and tumors. Onychodystrophy can also occur secondarily to systemic drug use. synonym: "Dystrophic nails" EXACT [] synonym: "Onychodystrophy" EXACT [] synonym: "Poor nail formation" EXACT layperson [http://naildystrophy.com/, ORCID:0000-0001-5208-3432] xref: MEDDRA:10028698 "Nail dystrophy" xref: SNOMEDCT_US:87065009 xref: UMLS:C0221260 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0008407 name: Hyperconvex thumb nails synonym: "Tightly curved thumb nail" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1855290 is_a: HP:0001795 ! Hyperconvex nail [Term] id: HP:0008410 name: Subungual hyperkeratotic fragments xref: UMLS:C1852311 is_a: HP:0000962 ! Hyperkeratosis is_a: HP:0009723 ! Abnormality of the subungual region [Term] id: HP:0008414 name: Lumbar kyphosis in infancy synonym: "Hunched back in infancy" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Round back in infancy" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1863423 is_a: HP:0008454 ! Lumbar kyphosis [Term] id: HP:0008416 name: Six lumbar vertebrae xref: UMLS:C1839279 is_a: HP:0002946 ! Supernumerary vertebrae [Term] id: HP:0008417 name: Vertebral hypoplasia alt_id: HP:0008431 def: "Small, underdeveloped vertebral bodies." [HPO:probinson] subset: hposlim_core synonym: "Underdeveloped vertebrae" EXACT layperson [] xref: SNOMEDCT_US:205456006 xref: UMLS:C0345394 is_a: HP:0008515 ! Aplasia/Hypoplasia of the vertebrae [Term] id: HP:0008418 name: Squared-off platyspondyly xref: UMLS:C1849051 is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0008419 name: Intervertebral disc degeneration def: "The presence of degenerative changes of intervertebral disk." [HPO:probinson] synonym: "Degeneration of intervertebral disks" EXACT [] synonym: "Degenerative disc disease" EXACT [ORCID:0000-0001-6908-9849] synonym: "Degenerative intervertebral disk" EXACT [] xref: MSH:D055959 xref: SNOMEDCT_US:77547008 xref: UMLS:C0158266 is_a: HP:0005108 ! Abnormality of the intervertebral disk [Term] id: HP:0008420 name: Punctate vertebral calcifications def: "The presence of punctiform calcification of the bone of the vertebral bodies." [HPO:probinson] xref: UMLS:C4024678 is_a: HP:0003468 ! Abnormal vertebral morphology is_a: HP:0010766 ! Ectopic calcification [Term] id: HP:0008421 name: Tall lumbar vertebral bodies xref: UMLS:C1863313 is_a: HP:0004570 ! Increased vertebral height [Term] id: HP:0008422 name: Vertebral wedging def: "An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other." [HPO:probinson] synonym: "Wedge-shaped vertebrae" EXACT layperson [] xref: UMLS:C1695776 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0008423 name: Spinal dysplasia def: "The presence of developmental dysplasia of the vertebral column." [HPO:probinson] xref: UMLS:C4021853 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0008424 name: Hypoplastic 5th lumbar vertebrae synonym: "Underdeveloped 5th lumbar vertebrae" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1859366 is_a: HP:0008417 ! Vertebral hypoplasia [Term] id: HP:0008425 name: Cuboid-shaped thoracolumbar vertebral bodies xref: UMLS:C1855289 is_a: HP:0004634 ! Cuboid-shaped vertebral bodies [Term] id: HP:0008428 name: Vertebral clefting alt_id: HP:0000942 def: "Schisis (cleft or cleavage) of vertebral bodies." [HPO:probinson] comment: Cleft vertebrae result when there are two, instead of one, primary ossification centers in a vertebral body. An unossified cartilaginous brdige may be observed radiographically with the shape of a cleft. If the two ossification centers are ventral/dorsal, a coronal cleft is observed, and if the two ossification centers are left/right, than a sagittal cleft is observed. synonym: "Vertebral clefts" EXACT [] xref: UMLS:C1855828 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0008430 name: Anterior beaking of lumbar vertebrae alt_id: HP:0005664 def: "Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine." [HPO:probinson] synonym: "Anterior tongue-like protrusion of lumbar vertebral bodies" EXACT [] xref: UMLS:C4021541 is_a: HP:0004568 ! Beaking of vertebral bodies [Term] id: HP:0008432 name: Anterior wedging of L1 def: "An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front)." [HPO:probinson] xref: UMLS:C4024677 is_a: HP:0008422 ! Vertebral wedging [Term] id: HP:0008433 name: Reversed usual vertebral column curves xref: UMLS:C4024676 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0008434 name: Hypoplastic cervical vertebrae alt_id: HP:0008415 synonym: "Cervical vertebrae hypoplasia" EXACT [] synonym: "Underdeveloped cervical vertebrae" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C1835570 is_a: HP:0008417 ! Vertebral hypoplasia is_a: HP:0011041 ! Aplasia/Hypoplasia of the cervical spine [Term] id: HP:0008435 name: Absent in utero ossification of vertebral bodies xref: UMLS:C1842698 is_a: HP:0004606 ! Unossified vertebral bodies [Term] id: HP:0008436 name: Absent/hypoplastic coccyx synonym: "Absent/small tailbone" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Absent/underdeveloped tailbone" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1856644 is_a: HP:0008517 ! Aplasia/Hypoplasia of the sacrum [Term] id: HP:0008437 name: Bifid thoracic vertebrae xref: UMLS:C2751478 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0008438 name: Vertebral arch anomaly def: "A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra." [HPO:probinson] comment: A vertebral arch is the posterior part of a vertebra and forms the canal through which the spinal cord passes. A vertebral arch consists of (i) a pair of vertebral pedicles, which are short thick processes that extend from the vertebral body to connect the body to the vertebral arch; (ii) a pari of vertebral laminae (broad plates that extending dorsally and medially from the pedicles fusing with one another to complete the roof of the vertebral arch); (iii) the spinous process (a process that is directed backward and downward from the junction of the laminae and to which muscles and ligaments attach); (iv) two superior articular processes and two inferior articular processes that articulate between two adjacent vertebrae); and (v) two transverse processes that extend at either side from the point where the lamina joins the pedicle, between the superior and inferior articular processes and allow the attachment of muscles and ligaments. synonym: "Vertebral arch abnormalities" EXACT [] xref: UMLS:C1835764 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0008439 name: Lumbar hemivertebrae def: "Absence of one half of the vertebral body in the lumbar spine." [HPO:probinson] xref: SNOMEDCT_US:93167001 xref: UMLS:C0432149 is_a: HP:0002937 ! Hemivertebrae [Term] id: HP:0008440 name: C1-C2 vertebral abnormality def: "Any abnormality of the atlas and the axis." [HPO:probinson] comment: The atlas is the first cervical vertebral body and the axis is the second vertebral body. xref: UMLS:C4024675 is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0008441 name: Herniation of intervertebral nuclei def: "The presence of one or more herniated nucleus pulposus of intervertebral disk." [HPO:probinson] subset: hposlim_core synonym: "Herniated disk" BROAD layperson [ORCID:0000-0001-6908-9849] synonym: "Herniated intervertebral nuclei" EXACT [] xref: MSH:D007405 xref: SNOMEDCT_US:73589001 xref: UMLS:C0021818 xref: UMLS:C1832597 is_a: HP:0005108 ! Abnormality of the intervertebral disk [Term] id: HP:0008442 name: Vertebral hyperostosis def: "Excessive growth of the bones of the vertebral bodies." [HPO:curators] xref: UMLS:C1834057 is_a: HP:0003468 ! Abnormal vertebral morphology is_a: HP:0100774 ! Hyperostosis [Term] id: HP:0008443 name: Spinal deformities xref: SNOMEDCT_US:298380006 xref: UMLS:C0575157 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0008444 name: Posterior wedging of vertebral bodies def: "An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back)." [HPO:probinson] xref: UMLS:C1969679 is_a: HP:0008422 ! Vertebral wedging [Term] id: HP:0008445 name: Cervical spinal canal stenosis def: "An abnormal narrowing of the cervical spinal canal." [HPO:probinson] synonym: "Narrow cervical spinal canal" EXACT [] xref: UMLS:C1844925 is_a: HP:0003416 ! Spinal canal stenosis [Term] id: HP:0008447 name: Hypoplastic coccygeal vertebrae xref: UMLS:C2751480 is_a: HP:0008417 ! Vertebral hypoplasia [Term] id: HP:0008449 name: Progressive cervical vertebral spine fusion xref: UMLS:C1851129 is_a: HP:0002949 ! Fused cervical vertebrae [Term] id: HP:0008450 name: Narrow vertebral interpedicular distance alt_id: HP:0008426 alt_id: HP:0008448 alt_id: HP:0008474 def: "A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces." [HPO:probinson] subset: hposlim_core synonym: "Interpedicular narrowing" EXACT [] synonym: "Narrow interpedicular space" EXACT [] synonym: "Narrow interpediculate distances" EXACT [] synonym: "Narrowing of interpediculate distances" EXACT [] xref: UMLS:C1832598 is_a: HP:0008438 ! Vertebral arch anomaly [Term] id: HP:0008451 name: Posterior vertebral hypoplasia xref: UMLS:C1856780 is_a: HP:0008417 ! Vertebral hypoplasia [Term] id: HP:0008452 name: Wafer-thin platyspondyly xref: UMLS:C1865124 is_a: HP:0004565 ! Severe platyspondyly [Term] id: HP:0008453 name: Congenital kyphoscoliosis xref: SNOMEDCT_US:405772002 xref: UMLS:C0345392 is_a: HP:0002751 ! Kyphoscoliosis [Term] id: HP:0008454 name: Lumbar kyphosis alt_id: HP:0008487 def: "Over curvature of the lumbar region." [HPO:probinson] synonym: "Lumbar gibbus deformity" EXACT [] synonym: "Rounded lower back" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1844818 is_a: HP:0100712 ! Abnormality of the lumbar spine [Term] id: HP:0008455 name: Dysplastic sacrum def: "A developmental defect of the sacrum characterized by partial or disordered development of the sacrum in which portions of the sacrum, which normally is formed by fusion of five sacral vertebrae S1-S5, fail to form or fail to form normally." [] synonym: "Absence of some of the sacral and coccygeal bones" EXACT layperson [] synonym: "Partial sacral agenesis" EXACT [] synonym: "Sacral dysgenesis" EXACT [] xref: UMLS:C1851305 is_a: HP:0005107 ! Abnormal sacrum morphology [Term] id: HP:0008456 name: C2-C3 subluxation def: "A partial dislocation of the intervertebral joint between the second and third cervical vertebrae." [HPO:probinson] xref: UMLS:C2678323 is_a: HP:0003308 ! Cervical subluxation [Term] id: HP:0008457 name: Caudal interpedicular narrowing def: "Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine." [HPO:probinson] synonym: "Caudal narrowing of interpedicular distances" EXACT [] xref: UMLS:C1863734 is_a: HP:0008450 ! Narrow vertebral interpedicular distance [Term] id: HP:0008458 name: Progressive congenital scoliosis def: "A progressive form of scoliosis with congenital onset." [HPO:probinson] xref: UMLS:C1857025 is_a: HP:0002650 ! Scoliosis [Term] id: HP:0008459 name: Cervical vertebral agenesis def: "Agenesis of one or more vertebrae of the cervical vertebral column." [HPO:probinson] synonym: "Cervical vertebrae agenesis" EXACT [] synonym: "Missing cervical vertebrae" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:C562952 xref: SNOMEDCT_US:91880006 xref: UMLS:C0432160 is_a: HP:0011041 ! Aplasia/Hypoplasia of the cervical spine [Term] id: HP:0008460 name: Hypoplastic spinal processes synonym: "Underdeveloped spinal processes" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024674 is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column [Term] id: HP:0008461 name: Cervical vertebral facet hypoplasia xref: UMLS:C4024673 is_a: HP:0011041 ! Aplasia/Hypoplasia of the cervical spine [Term] id: HP:0008462 name: Cervical instability xref: UMLS:C1863314 is_a: HP:0005881 ! Spinal instability [Term] id: HP:0008463 name: Central vertebral hypoplasia xref: UMLS:C4024672 is_a: HP:0008417 ! Vertebral hypoplasia [Term] id: HP:0008464 name: Absent spinous processes of lower thoracic and lumbar vertebrae xref: UMLS:C4024671 is_a: HP:0008516 ! Abnormality of the vertebral spinous processes [Term] id: HP:0008465 name: Absent vertebra def: "A developmental defect characterized by agenesis of one or more vertebral bodies." [PMID:26167231] synonym: "Absent vertebrae" EXACT layperson [] xref: SNOMEDCT_US:15843004 xref: UMLS:C0158776 is_a: HP:0008515 ! Aplasia/Hypoplasia of the vertebrae [Term] id: HP:0008467 name: Thoracic hemivertebrae alt_id: HP:0004604 def: "Absence of one half of the vertebral body in the thoracic spine." [HPO:probinson] synonym: "Midthoracic hemivertebrae" NARROW [] xref: SNOMEDCT_US:95304000 xref: UMLS:C0432152 xref: UMLS:C4020799 is_a: HP:0002937 ! Hemivertebrae [Term] id: HP:0008468 name: Abnormal sacral segmentation def: "An abnormality related to a defect of vertebral separation of sacral vertebrae during development." [] xref: UMLS:C1968942 is_a: HP:0008490 ! Sacral segmentation defect [Term] id: HP:0008469 name: Cervical vertebral dysplasia def: "Dysplasia of the cervical vertebral column." [HPO:probinson] xref: MSH:C566140 xref: UMLS:C1861693 is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0008470 name: Lower thoracic interpediculate narrowness def: "A reduction of the distance between the lower thoracic vertebral pedicles." [HPO:probinson] synonym: "Narrowness of interpediculate distances in lower thoracic regions" EXACT [] xref: UMLS:C1854940 is_a: HP:0008450 ! Narrow vertebral interpedicular distance [Term] id: HP:0008472 name: Prominent protruding coccyx synonym: "Large tailbone" BROAD layperson [ORCID:0000-0001-6908-9849] synonym: "Prominent protruding tailbone" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1850044 xref: UMLS:C4280412 is_a: HP:0040016 ! Prominent coccyx is_a: HP:0040017 ! Protruding coccyx [Term] id: HP:0008473 name: Narrow anterio-posterior vertebral body diameter alt_id: HP:0005732 def: "An abnormal reduction of the anterioposterior diameter of the vertebral body." [HPO:probinson] synonym: "Reduced sagittal diameter of vertebrae" EXACT [] xref: UMLS:C4021540 is_a: HP:0008479 ! Hypoplastic vertebral bodies [Term] id: HP:0008475 name: Hypoplastic sacral vertebrae xref: UMLS:C2751479 is_a: HP:0004590 ! Hypoplastic sacrum is_a: HP:0008417 ! Vertebral hypoplasia [Term] id: HP:0008476 name: Irregular sclerotic endplates alt_id: HP:0004624 synonym: "irregular, dense end plate" EXACT [] xref: UMLS:C1868554 is_a: HP:0003301 ! Irregular vertebral endplates [Term] id: HP:0008477 name: Poorly ossified cervical vertebrae def: "Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set." [HPO:probinson] xref: UMLS:C4024670 is_a: HP:0100856 ! Poorly ossified vertebrae [Term] id: HP:0008478 name: Scheuermann-like vertebral changes xref: UMLS:C1844926 is_a: HP:0010891 ! Morbus Scheuermann [Term] id: HP:0008479 name: Hypoplastic vertebral bodies alt_id: HP:0002773 synonym: "Small vertebrae" EXACT [] synonym: "Small vertebral bodies" EXACT [] synonym: "Underdeveloped back bones" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C1863353 is_a: HP:0003312 ! Abnormal form of the vertebral bodies is_a: HP:0008417 ! Vertebral hypoplasia [Term] id: HP:0008480 name: Cervical spondylosis def: "The presence of arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column." [HPO:probinson] synonym: "Cervical oestoarthritis" EXACT [ORCID:0000-0001-6908-9849] synonym: "Neck arthritis" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D055009 xref: SNOMEDCT_US:387800004 xref: SNOMEDCT_US:387801000 xref: UMLS:C0263854 xref: UMLS:C1384641 is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0008482 name: Asymmetry of spinal facet joints xref: UMLS:C4024669 is_a: HP:0030870 ! Abnormality of spinal facet joint [Term] id: HP:0008483 name: Cervical vertebral bodies with decreased anteroposterior diameter xref: UMLS:C1847393 is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0008484 name: Thoracolumbar interpediculate narrowness def: "A reduction of the distance between thoracolumbar vertebral pedicles." [HPO:probinson] synonym: "Narrow thoracolumbar interpediculate distance" EXACT [] xref: UMLS:C1864364 is_a: HP:0008450 ! Narrow vertebral interpedicular distance [Term] id: HP:0008486 name: Lumbar interpedicular narrowing def: "Narrowing (becoming gradually narrower) of the distance between lumbar vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column." [HPO:probinson] synonym: "Decreasing lumbar vertebrae interpediculate distance" EXACT [] xref: UMLS:C1849079 is_a: HP:0008457 ! Caudal interpedicular narrowing [Term] id: HP:0008488 name: Anterior rounding of vertebral bodies xref: UMLS:C1850043 is_a: HP:0003300 ! Ovoid vertebral bodies [Term] id: HP:0008489 name: Spondylolisthesis at L5-S1 alt_id: HP:0005779 def: "Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the fifth lumbar vertebral body (L5) onto the sacrum (level S1)." [HPO:probinson] synonym: "Spondylolysis and spondylolisthesis of l5" EXACT [] xref: UMLS:C3275799 is_a: HP:0003302 ! Spondylolisthesis [Term] id: HP:0008490 name: Sacral segmentation defect xref: UMLS:C1850329 is_a: HP:0003422 ! Vertebral segmentation defect is_a: HP:0005107 ! Abnormal sacrum morphology [Term] id: HP:0008491 name: Premature anterior fontanel closure def: "Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life." [HPO:probinson] xref: UMLS:C4024668 is_a: HP:0000236 ! Abnormality of the anterior fontanelle [Term] id: HP:0008494 name: Inferior lens subluxation def: "Partial displacement of the lens in the inferior direction." [HPO:probinson] synonym: "Inferior subluxated lens" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C2036842 is_a: HP:0001132 ! Lens subluxation [Term] id: HP:0008496 name: Multiple rows of eyelashes synonym: "Double row of eyelashes" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Extra rows of eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Multiple rows of eyelashes" EXACT layperson [] synonym: "Two rows of eyelashes" NARROW layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:95339000 xref: UMLS:C0423848 xref: UMLS:C3550336 is_a: HP:0000499 ! Abnormal eyelash morphology [Term] id: HP:0008497 name: Congenital craniofacial dysostosis xref: UMLS:C4024667 is_a: HP:0004439 ! Craniofacial dysostosis [Term] id: HP:0008498 name: No permanent dentition synonym: "Absence of adult teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Absence of secondary dentition" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing adult teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "No adult dentition" EXACT [ORCID:0000-0001-5889-4463] synonym: "No secondary dentition" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4024666 is_a: HP:0000696 ! Delayed eruption of permanent teeth [Term] id: HP:0008499 name: High hypermetropia def: "A severe form of hypermetropia with over +5.00 diopters." [DDD:ncarter, ORCID:0000-0003-0986-4123] synonym: "High hyperopia" EXACT [] synonym: "High-grade hypermetropia" EXACT [] synonym: "Severe farsightedness" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Severe long-sightedness" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024665 is_a: HP:0000540 ! Hypermetropia [Term] id: HP:0008501 name: Median cleft lip and palate alt_id: HP:0009089 def: "Cleft lip or palate affecting the midline region of the palate." [HPO:sdoelken] synonym: "Central cleft lip and palate" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Medial cleft lip and palate" EXACT [] synonym: "Midline cleft lip/palate" EXACT layperson [] synonym: "Wide midline cleft lip/palate" EXACT [] xref: UMLS:C2750604 is_a: HP:0000161 ! Median cleft lip is_a: HP:0009099 ! Median cleft palate [Term] id: HP:0008504 name: Moderate sensorineural hearing impairment def: "The presence of a moderate form of sensorineural hearing impairment." [HPO:probinson] synonym: "Moderate neural deafness" RELATED [] xref: UMLS:C4020798 xref: UMLS:C4024664 is_a: HP:0000407 ! Sensorineural hearing impairment is_a: HP:0012713 ! Moderate hearing impairment [Term] id: HP:0008507 name: Static ophthalmoparesis xref: UMLS:C4024663 is_a: HP:0000597 ! Ophthalmoparesis [Term] id: HP:0008509 name: Aged leonine appearance xref: UMLS:C3550331 is_a: HP:0007495 ! Prematurely aged appearance [Term] id: HP:0008511 name: Central posterior corneal opacity def: "Reduced transparency of the central posterior portion of the corneal stroma." [HPO:probinson] xref: SNOMEDCT_US:246967007 xref: UMLS:C0423260 is_a: HP:0011493 ! Central opacification of the cornea [Term] id: HP:0008513 name: Bilateral conductive hearing impairment alt_id: HP:0008536 def: "A bilateral type of conductive hearing impairment." [HPO:probinson] synonym: "Bilateral conductive deafness" EXACT [] synonym: "Bilateral conductive hearing loss" EXACT [] xref: SNOMEDCT_US:194417009 xref: UMLS:C0452136 is_a: HP:0000405 ! Conductive hearing impairment [Term] id: HP:0008515 name: Aplasia/Hypoplasia of the vertebrae synonym: "Absent/small vertebrae" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped vertebrae" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024662 is_a: HP:0003468 ! Abnormal vertebral morphology is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column created_by: peter creation_date: 2008-04-04T02:30:00Z [Term] id: HP:0008516 name: Abnormality of the vertebral spinous processes xref: UMLS:C4024661 is_a: HP:0003312 ! Abnormal form of the vertebral bodies created_by: peter creation_date: 2008-04-04T02:31:00Z [Term] id: HP:0008517 name: Aplasia/Hypoplasia of the sacrum def: "Aplasia or developmental hypoplasia of the sacral bone." [HPO:probinson] synonym: "Absent/small sacrum" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped sacrum" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024660 is_a: HP:0005107 ! Abnormal sacrum morphology is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column created_by: peter creation_date: 2008-04-04T02:32:00Z [Term] id: HP:0008518 name: Aplasia/Hypoplasia involving the vertebral column synonym: "Absent/small backbone" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Absent/small spine" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Absent/small vertebral column" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped backbone" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Absent/underdeveloped spine" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Absent/underdeveloped vertebral column" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024659 is_a: HP:0000925 ! Abnormality of the vertebral column is_a: HP:0009122 ! Aplasia/hypoplasia affecting bones of the axial skeleton created_by: peter creation_date: 2008-04-04T02:33:00Z [Term] id: HP:0008519 name: Abnormality of the coccyx alt_id: HP:0002830 def: "An abnormality of the coccyx." [HPO:probinson] synonym: "Abnormal tailbone" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024658 is_a: HP:0000925 ! Abnormality of the vertebral column is_a: HP:0002644 ! Abnormality of pelvic girdle bone morphology created_by: peter creation_date: 2008-04-04T02:41:00Z [Term] id: HP:0008523 name: Posterior helix pit def: "Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated." [pmid:19152421] comment: They are usually linear to a narrow oval in shape and may be single or multiple. subset: hposlim_core synonym: "Ear, posterior helical groove" EXACT [] synonym: "Ear, posterior helical notch" EXACT [] synonym: "Helix, posterior pit" EXACT [] synonym: "Indentation in back of outer ear" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Pits in posterior aspect of ear helices" EXACT [] xref: UMLS:C4021539 is_a: HP:0011039 ! Abnormality of the helix [Term] id: HP:0008527 name: Congenital sensorineural hearing impairment alt_id: HP:0004455 alt_id: HP:0004457 alt_id: HP:0008520 alt_id: HP:0008521 alt_id: HP:0008540 alt_id: HP:0008543 alt_id: HP:0008545 alt_id: HP:0008546 alt_id: HP:0008556 alt_id: HP:0008558 alt_id: HP:0008561 alt_id: HP:0008571 alt_id: HP:0008603 alt_id: HP:0008612 alt_id: HP:0008620 def: "A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset." [HPO:probinson] synonym: "Bilateral congenital sensorineural deafness" EXACT [] synonym: "Congenital neurosensory deafness" EXACT [] synonym: "Congenital perceptive deafness" EXACT [] synonym: "Congenital sensorineural deafness" EXACT [] synonym: "Congenital sensorineural hearing loss" EXACT [] synonym: "Hearing loss, congenital sensorineural" EXACT [] xref: SNOMEDCT_US:700453005 xref: UMLS:C1865866 is_a: HP:0000407 ! Sensorineural hearing impairment [Term] id: HP:0008528 name: Long hairs growing from helix of pinna synonym: "Ear hair" BROAD layperson [ORCID:0000-0001-6908-9849] synonym: "Long hairs growing from helix of ear" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:27394002 xref: UMLS:C0222050 xref: UMLS:C4024657 is_a: HP:0011039 ! Abnormality of the helix [Term] id: HP:0008529 name: Absence of acoustic reflex alt_id: HP:0008595 def: "Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli." [HPO:probinson] comment: Note that the acoustic reflex is also referred to as stapedius reflex, attenuation reflex, or auditory reflex. synonym: "Absence of acoustic middle ear muscle reflexes" EXACT [] synonym: "Absent middle ear reflexes" EXACT [] xref: UMLS:C1832834 is_a: HP:0040121 ! Abnormality of the acoustic reflex [Term] id: HP:0008537 name: Cleft at the superior portion of the pinna comment: This term is used for Auriculocondylar syndrome (MIM:602483). Not clear if there is a clean delineation against cleft helix. synonym: "Cleft at the superior portion of the ear" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C1865302 is_a: HP:0009902 ! Cleft helix [Term] id: HP:0008541 name: Superiorly displaced ears synonym: "High set ears" RELATED layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1850190 is_a: HP:0000357 ! Abnormal location of ears [Term] id: HP:0008542 name: Low-frequency hearing loss def: "A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz)." [HPO:probinson] synonym: "Low-frequency hearing loss" EXACT layperson [] xref: SNOMEDCT_US:42538001 xref: UMLS:C0271514 is_a: HP:0000365 ! Hearing impairment [Term] id: HP:0008544 name: Abnormally folded helix xref: UMLS:C1970777 is_a: HP:0011039 ! Abnormality of the helix [Term] id: HP:0008551 name: Microtia alt_id: HP:0000393 alt_id: HP:0000409 alt_id: HP:0008550 alt_id: HP:0008618 alt_id: HP:0008621 def: "Underdevelopment of the external ear." [HPO:probinson, pmid:19152421, pmid:3270622] comment: The definitions of microtia follow a widely used, surgically based, classification of ear anomalies outlined by Weerda 1988. As microtia indicates at least both decreased length and width, and in more severe forms it includes abnormal shape of structures, all forms are acknowledged to be bundled terms, but are retained here because they are well established. subset: hposlim_core synonym: "Bilateral microtia" EXACT [] synonym: "Hypoplasia of the external ear" EXACT [] synonym: "Hypoplastic ears" EXACT [] synonym: "Hypoplastic pinna" EXACT [] synonym: "Small ears" EXACT layperson [] synonym: "Small pinnae" EXACT [] synonym: "Underdeveloped ears" EXACT layperson [] xref: MSH:D065817 xref: SNOMEDCT_US:35045004 xref: UMLS:C0152423 is_a: HP:0000377 ! Abnormality of the pinna is_a: HP:0008772 ! Aplasia/Hypoplasia of the external ear [Term] id: HP:0008554 name: Cochlear malformation def: "The presence of a malformed cochlea." [HPO:probinson] comment: A cochlear malformation may include a membranous abnormality, a bony abnormality, or a combination of the two. xref: UMLS:C1862050 is_a: HP:0000375 ! Abnormal cochlea morphology [Term] id: HP:0008555 name: Absent vestibular function def: "Complete lack of functioning of the vestibular apparatus." [HPO:probinson] xref: UMLS:C4024656 is_a: HP:0001756 ! Vestibular hypofunction [Term] id: HP:0008559 name: Hypoplastic superior helix alt_id: HP:0008627 synonym: "Underdeveloped superior helices" EXACT [] xref: UMLS:C1865305 is_a: HP:0008589 ! Hypoplastic helices [Term] id: HP:0008568 name: Vestibular areflexia alt_id: HP:0008526 def: "Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography." [HPO:probinson, PMID:26918204] synonym: "Vestibular ataxia" RELATED [] xref: SNOMEDCT_US:22443004 xref: UMLS:C0235927 xref: UMLS:C4015052 is_a: HP:0007670 ! Abnormal vestibulo-ocular reflex [Term] id: HP:0008569 name: Microtia, second degree def: "Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear." [eom:ae27d9699faef13a, pmid:19152421] synonym: "Cockleshell ear" RELATED layperson [] synonym: "Constricted helix type IV" RELATED [] synonym: "Ear, grade II dysplasia" RELATED [] synonym: "Mini ear" RELATED layperson [] synonym: "Severe cupped ear, type III" RELATED [] synonym: "Shell ear" RELATED layperson [] synonym: "Snail ear" RELATED layperson [] xref: UMLS:C4020694 xref: UMLS:C4020792 xref: UMLS:C4020793 xref: UMLS:C4020794 xref: UMLS:C4020795 xref: UMLS:C4020796 xref: UMLS:C4020797 is_a: HP:0008551 ! Microtia [Term] id: HP:0008572 name: External ear malformation alt_id: HP:0008594 def: "A malformation of the auricle of the ear." [HPO:probinson] synonym: "External ear malformation" EXACT layperson [] xref: UMLS:C1846460 is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0008573 name: Low-frequency sensorineural hearing impairment def: "A form of sensorineural hearing impairment that affects primarily the lower frequencies." [HPO:probinson] synonym: "Low-frequency sensorineural hearing loss" EXACT [] xref: UMLS:C3810445 is_a: HP:0000407 ! Sensorineural hearing impairment [Term] id: HP:0008577 name: Underfolded helix def: "Underdevelopment of the helix that either affects the entire helix, or is localized." [pmid:19152421] comment: Helix folding is highly variable, and the range is illustrated in Figures 29 and 30. To use this term, the affected area must be too long to be considered a Cleft helix. Underdevelopment of part of the helix can lead to the impression that the scaphal area is enlarged. synonym: "Poorly folded helices" EXACT [] xref: UMLS:C1849735 is_a: HP:0008544 ! Abnormally folded helix [Term] id: HP:0008583 name: Underfolded superior helices def: "A condition in which the superior portion of the helix is folded over to a lesser degree than normal." [HPO:probinson] xref: UMLS:C4024655 is_a: HP:0008577 ! Underfolded helix [Term] id: HP:0008586 name: Hypoplasia of the cochlea def: "Developmental hypoplasia of the cochlea." [HPO:probinson] synonym: "Hypoplastic cochlea" EXACT [] synonym: "Underdeveloped cochlea" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C2676974 is_a: HP:0011395 ! Aplasia/Hypoplasia of the cochlea [Term] id: HP:0008587 name: Mild neurosensory hearing impairment def: "The presence of a mild form of sensorineural hearing impairment." [HPO:probinson] comment: A neurosensory hearing loss with a deficit of 21-40 dB. synonym: "Mild neurosensory hearing loss" EXACT [] xref: UMLS:C4021538 is_a: HP:0000407 ! Sensorineural hearing impairment is_a: HP:0012712 ! Mild hearing impairment [Term] id: HP:0008588 name: Slit-like opening of the exterior auditory meatus def: "A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit." [pmid:12843316] xref: UMLS:C1846459 is_a: HP:0000402 ! Stenosis of the external auditory canal [Term] id: HP:0008589 name: Hypoplastic helices def: "Underdevelopment of the helix, i.e., of the outer rim of the pinna." [HPO:curators] synonym: "Underdeveloped helices" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C1842681 is_a: HP:0011039 ! Abnormality of the helix [Term] id: HP:0008591 name: Congenital conductive hearing impairment alt_id: HP:0008525 def: "A type of conductive deafness with congenital onset." [HPO:probinson] synonym: "Congenital conductive deafness" EXACT [] synonym: "Congenital conductive hearing loss" EXACT [] xref: UMLS:C4021537 is_a: HP:0000405 ! Conductive hearing impairment [Term] id: HP:0008593 name: Prominent antitragus def: "Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix." [HPO:curators, pmid:19152421] synonym: "Enlarged antitragus" EXACT [] synonym: "Hyperplastic antitragus" EXACT [] synonym: "Hypertrophic antitragus" EXACT [] xref: UMLS:C1968811 is_a: HP:0009896 ! Abnormality of the antitragus [Term] id: HP:0008596 name: Postlingual sensorineural hearing impairment def: "A form of sensorineural hearing impairment with onset after the acquisition of speech." [HPO:probinson] xref: UMLS:C4024654 is_a: HP:0011474 ! Childhood onset sensorineural hearing impairment [Term] id: HP:0008598 name: Mild conductive hearing impairment def: "A mild form of conductive hearing impairment." [HPO:probinson] comment: Conductive hearing impairment with 21-40 dB deficit. synonym: "Conductive hearing loss, mild" EXACT [] xref: UMLS:C4021536 is_a: HP:0000405 ! Conductive hearing impairment is_a: HP:0012712 ! Mild hearing impairment [Term] id: HP:0008605 name: Unilateral external ear deformity synonym: "Deformed external ear on one side" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1834043 is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0008606 name: Supraauricular pit def: "Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit." [HPO:sdoelken] synonym: "Pit above the ear" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Supraauricular fistula" EXACT [ORCID:0000-0001-5889-4463] synonym: "Supraauricular sinus" EXACT [] synonym: "Supraauricular sinuses" EXACT [] xref: UMLS:C1862059 is_a: HP:0100277 ! Periauricular skin pits [Term] id: HP:0008607 name: Progressive conductive hearing impairment def: "A progressive type of conductive deafness." [HPO:probinson] synonym: "Progressive conductive deafness" EXACT [] xref: UMLS:C1861325 is_a: HP:0000405 ! Conductive hearing impairment [Term] id: HP:0008608 name: Hypertrophic auricular cartilage xref: UMLS:C1857263 is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0008609 name: Morphological abnormality of the middle ear def: "An abnormality of the morphology or structure of the middle ear." [DDD:mbitner-glidicz] synonym: "Middle ear malformation" EXACT layperson [] synonym: "Morphological abnormality of the middle ear" EXACT layperson [] xref: UMLS:C1857456 is_a: HP:0000370 ! Abnormality of the middle ear [Term] id: HP:0008610 name: Infantile sensorineural hearing impairment def: "A form of sensorineural hearing impairment with infantile onset." [HPO:probinson] synonym: "Infantile sensorineural hearing loss" EXACT [] xref: UMLS:C4021535 is_a: HP:0011474 ! Childhood onset sensorineural hearing impairment [Term] id: HP:0008615 name: Adult onset sensorineural hearing impairment alt_id: HP:0008532 alt_id: HP:0008599 def: "The presence of sensorineural deafness with late onset." [HPO:probinson] synonym: "Late sensorineural hearing loss" EXACT [] synonym: "Sensorineural deafness, late-onset" EXACT [] xref: UMLS:C4021534 is_a: HP:0000407 ! Sensorineural hearing impairment [Term] id: HP:0008619 name: Bilateral sensorineural hearing impairment alt_id: HP:0008530 alt_id: HP:0008539 alt_id: HP:0008579 alt_id: HP:0008585 def: "A bilateral form of sensorineural hearing impairment." [HPO:probinson] synonym: "Bilateral nerve deafness" EXACT [] synonym: "Bilateral sensorineural deafness" EXACT [] synonym: "Bilateral sensorineural hearing loss" EXACT [] synonym: "Hearing loss, sensorineural, bilateral" EXACT [] xref: SNOMEDCT_US:194424005 xref: UMLS:C0452138 is_a: HP:0000407 ! Sensorineural hearing impairment [Term] id: HP:0008625 name: Severe sensorineural hearing impairment alt_id: HP:0008534 alt_id: HP:0008574 def: "A severe form of sensorineural hearing impairment." [HPO:probinson] synonym: "Severe sensorineural deafness" EXACT [ORCID:0000-0001-6908-9849] synonym: "Severe sensorineural hearing loss" EXACT [] xref: UMLS:C4021533 is_a: HP:0000407 ! Sensorineural hearing impairment is_a: HP:0012714 ! Severe hearing impairment [Term] id: HP:0008628 name: Abnormality of the stapes def: "An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear." [HPO:probinson] synonym: "Stapedial abnormalities" EXACT [] xref: UMLS:C4021532 is_a: HP:0004452 ! Abnormality of the middle ear ossicles [Term] id: HP:0008629 name: Pulsatile tinnitus alt_id: HP:0000361 def: "Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation. Pulsatile tinnitus may be associated with vascular abnormalities such as arterioevenous shunts or glomus tumors or the jugular vein, arterial bruits related to a high-riding carotid artery (close to the auditory areas) or carotid stenosis, or venous abnormalities such as a dehiscent jugular bulb or to hypertension. Finally, in some patients, mechanical abnormalities such a spatulous eustachian tubes, palatomyoclonus (small spasms of muscles in the soft palate area), or idiopathic stapedial muscle spasm may represent the underlying cause of pulsatile tinnitus." [HPO:curators] xref: MSH:D014012 xref: SNOMEDCT_US:232322006 xref: UMLS:C0751559 is_a: HP:0000360 ! Tinnitus [Term] id: HP:0008631 name: Ureteral dysgenesis def: "A developmental anomaly of the ureter." [HPO:probinson] comment: If possible, a more specific term describing the precise type of ureteral dysgenesis should be chosen. xref: UMLS:C4024653 is_a: HP:0025633 ! Abnormal ureter morphology [Term] id: HP:0008633 name: Agonadism def: "Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females)." [] comment: Gonadal agenesis refers to the lack of development of gonads during fetal development; it may not be possible clinically to determine if gonal tissue was present at any point of development. For this reason, we regard agonadism and gonadal agenesis as synonymous. synonym: "Absent gonadal tissue" EXACT [] synonym: "Gonadal agenesis" EXACT [] xref: UMLS:C4024652 is_a: HP:0000812 ! Abnormal internal genitalia [Term] id: HP:0008635 name: Hypertrophy of the urinary bladder def: "Abnormal enlargement of the urinary bladder." [HPO:probinson] synonym: "Hypertrophic urinary bladder" EXACT [] xref: UMLS:C4021531 is_a: HP:0025487 ! Abnormality of bladder morphology [Term] id: HP:0008636 name: Lobular glomerulopathy xref: UMLS:C4024651 is_a: HP:0000095 ! Abnormality of renal glomerulus morphology [Term] id: HP:0008639 name: Gonadal hypoplasia synonym: "Underdeveloped gonad" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C0239761 is_a: HP:0000812 ! Abnormal internal genitalia [Term] id: HP:0008640 name: Congenital macroorchidism xref: UMLS:C4024650 is_a: HP:0000053 ! Macroorchidism [Term] id: HP:0008643 name: Nephroblastomatosis def: "Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood." [HPO:probinson, pmid:10707720] xref: UMLS:C2675558 is_a: HP:0011794 ! Embryonal renal neoplasm [Term] id: HP:0008647 name: Pubertal developmental failure in females xref: UMLS:C4024649 is_a: HP:0008197 ! Absence of pubertal development [Term] id: HP:0008648 name: Anteriorly displaced urethral meatus xref: UMLS:C4024648 is_a: HP:0100627 ! Displacement of the urethral meatus [Term] id: HP:0008651 name: Uric acid urolithiasis independent of gout xref: UMLS:C4024647 is_a: HP:0000791 ! Uric acid nephrolithiasis [Term] id: HP:0008652 name: Autonomic erectile dysfunction def: "Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system." [HPO:probinson] synonym: "Impotence due to autonomic dysfunction" EXACT [] xref: UMLS:C1868524 is_a: HP:0012332 ! Abnormal autonomic nervous system physiology [Term] id: HP:0008653 name: Crescentic glomerulonephritis def: "A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation." [Eurenomics:ewuehl] xref: SNOMEDCT_US:236398000 xref: UMLS:C0403416 is_a: HP:0000099 ! Glomerulonephritis [Term] id: HP:0008655 name: Aplasia/Hypoplasia of the fallopian tube def: "Aplasia or developmental hypoplasia of the fallopian tube." [HPO:probinson] synonym: "Absent or rudimentary fallopian tubes" RELATED [] synonym: "Absent/small fallopian tube" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped fallopian tube" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4020791 xref: UMLS:C4024646 is_a: HP:0011027 ! Abnormality of the fallopian tube [Term] id: HP:0008656 name: Incomplete male pseudohermaphroditism xref: UMLS:C4024645 is_a: HP:0000037 ! Male pseudohermaphroditism [Term] id: HP:0008659 name: Multiple small medullary renal cysts alt_id: HP:0005569 alt_id: HP:0100956 def: "The presence of many cysts in the medulla of the kidney." [Eurenomics:ewuehl] comment: This feature is the cardinal sign of medullary cystic disease, also known as medullary sponge disease. synonym: "Medullary cystic disease" RELATED [] synonym: "Medullary sponge kidney disease" RELATED [] xref: SNOMEDCT_US:204958008 xref: UMLS:C0687120 xref: UMLS:C4020790 xref: UMLS:C4024644 is_a: HP:0000107 ! Renal cyst is_a: HP:0100957 ! Abnormal renal medulla morphology [Term] id: HP:0008660 name: Renotubular dysgenesis def: "A developmental defect characterized by absence or poor development of proximal renal tubules." [HPO:probinson] comment: Renotubular dysgenesis is generally accompanied by early onset and persistent oligohydramnios that leads to the Potter sequence. synonym: "Renal tubular dysgenesis" EXACT [] xref: MSH:C537048 xref: SNOMEDCT_US:702397002 xref: UMLS:C0266313 is_a: HP:0000091 ! Abnormal renal tubule morphology [Term] id: HP:0008661 name: Urethral stenosis def: "Abnormal narrowing of the urethra." [HPO:probinson] synonym: "Narrowing of the urethra" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D014525 xref: SNOMEDCT_US:236647003 xref: SNOMEDCT_US:76618002 xref: UMLS:C0041974 is_a: HP:0000796 ! Urethral obstruction [Term] id: HP:0008663 name: Renal sarcoma def: "A sarcoma of the kidney." [HPO:probinson] xref: NCIT:C3158 xref: SNOMEDCT_US:254918001 xref: UMLS:C0346251 is_a: HP:0009726 ! Renal neoplasm is_a: HP:0100242 ! Sarcoma [Term] id: HP:0008664 name: Urethral sphincter sclerosis xref: UMLS:C4024643 is_a: HP:0008661 ! Urethral stenosis [Term] id: HP:0008665 name: Clitoral hypertrophy alt_id: HP:0000057 alt_id: HP:0008728 def: "Hypertrophy of the clitoris." [HPO:probinson] comment: Increased size of the clitoris. synonym: "Clitoral enlargement" EXACT [] synonym: "Clitoromegaly" EXACT [] synonym: "Enlarged clitoris" EXACT layperson [orcid.org/0000-0002-6548-5200] synonym: "Hypertrophic clitoris" EXACT [] synonym: "Prominent clitoris" EXACT [] xref: SNOMEDCT_US:80212005 xref: UMLS:C0156394 is_a: HP:0040253 ! Increased size of the clitoris [Term] id: HP:0008666 name: Impaired histidine renal tubular absorption xref: UMLS:C4024642 is_a: HP:0000124 ! Renal tubular dysfunction [Term] id: HP:0008668 name: Gonadal dysgenesis, male def: "Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation." [HPO:sdoelken] synonym: "46,xy gonadal dysgenesis" EXACT [] xref: MSH:D006061 xref: UMLS:C0018054 is_a: HP:0000133 ! Gonadal dysgenesis [Term] id: HP:0008669 name: Abnormal spermatogenesis def: "Incomplete maturation or aberrant formation of the male gametes." [HPO:probinson, MP:0001156] synonym: "Abnormal sperm development" RELATED layperson [] synonym: "Impaired spermatogenesis" EXACT [] xref: SNOMEDCT_US:4529005 xref: UMLS:C0520933 xref: UMLS:C4020789 is_a: HP:0000025 ! Functional abnormality of male internal genitalia [Term] id: HP:0008670 name: Partial vaginal septum xref: UMLS:C0750088 is_a: HP:0001153 ! Septate vagina [Term] id: HP:0008672 name: Calcium oxalate nephrolithiasis alt_id: HP:0008700 alt_id: HP:0008725 def: "The presence of calcium- and oxalate-containing calculi (stones) in the kidneys." [HPO:probinson] synonym: "Ca oxalate kidney stone" EXACT HP:0045077 [] synonym: "Ca oxalate nephrolithiasis" EXACT HP:0045077 [] synonym: "Ca oxalate urolithiasis" EXACT HP:0045077 [] synonym: "Ca2+ oxalate kidney stone" EXACT HP:0045077 [] synonym: "Ca2+ oxalate nephrolithiasis" EXACT HP:0045077 [] synonym: "Ca2+ oxalate urolithiasis" EXACT HP:0045077 [] synonym: "Calcium oxalate kidney stones" EXACT [ORCID:0000-0001-6908-9849] synonym: "Calcium oxalate urolithiasis" RELATED [] synonym: "Oxalate nephrolithiasis" EXACT [] xref: MSH:C563477 xref: SNOMEDCT_US:444717006 xref: UMLS:C1833683 xref: UMLS:C4280806 is_a: HP:0004724 ! Calcium nephrolithiasis [Term] id: HP:0008675 name: Enlarged polycystic ovaries synonym: "Enlarged ovaries with cysts" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C4024641 is_a: HP:0000147 ! Polycystic ovaries is_a: HP:0100879 ! Enlarged ovaries [Term] id: HP:0008676 name: Congenital megaureter def: "A developmental disturbance with extreme ureteral dilatation." [HPO:probinson] comment: The cause of congenital megaloureter is thought to be aperistalsis of the distal ureter, leading to dilatation. The defect in peristalsis may be due to faulty development of muscle layers of ureter, that is, there is a functional, not a mechanical cause of obstruction. synonym: "Congenital megaloureter" EXACT [] xref: SNOMEDCT_US:718485003 xref: SNOMEDCT_US:95576001 xref: UMLS:C0266324 is_a: HP:0025633 ! Abnormal ureter morphology [Term] id: HP:0008677 name: Congenital nephrotic syndrome def: "Nephrotic syndrome with onset within the first three months of life." [Eurenomics:fschaefer] synonym: "Congenital nephrosis" EXACT [] xref: MSH:C535761 xref: SNOMEDCT_US:48796009 xref: UMLS:C3501848 is_a: HP:0000100 ! Nephrotic syndrome [Term] id: HP:0008678 name: Renal hypoplasia/aplasia alt_id: HP:0004744 alt_id: HP:0008701 def: "Absence or underdevelopment of the kidney." [HPO:probinson] synonym: "Absent/small kidney" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped kidney" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Renal agenesis/hypoplasia" EXACT [] synonym: "Renal aplasia/hypoplasia" EXACT [] xref: UMLS:C1857453 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0008682 name: Acute tubular necrosis def: "Acute death of renal tubular cells that usually results from prolonged renal ischemia, nephrotoxins, or sepsis. The clinical course of acute tubular necrosis may be divided into initiation, maintenance, and recovery phases." [HPO:probinson] synonym: "Renal tubular necrosis" EXACT [] xref: MSH:D007683 xref: SNOMEDCT_US:35455006 xref: UMLS:C0022672 is_a: HP:0000091 ! Abnormal renal tubule morphology [Term] id: HP:0008683 name: Enlarged labia minora alt_id: HP:0008662 alt_id: HP:0008694 def: "Increase in size of the folds of skin between the outer labia." [HPO:probinson] synonym: "Hypertrophic labia minora" EXACT [] synonym: "Labia minora hypertrophy" EXACT [] xref: UMLS:C1849358 is_a: HP:0000065 ! Labial hypertrophy is_a: HP:0012880 ! Abnormality of the labia minora [Term] id: HP:0008684 name: Aplasia/hypoplasia of the uterus def: "Absence or developmental hypoplasia of the uterus." [HPO:probinson] synonym: "Absent/small uterus" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped uterus" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024640 is_a: HP:0000130 ! Abnormality of the uterus [Term] id: HP:0008687 name: Hypoplasia of the prostate synonym: "Hypoplastic prostate" EXACT [] synonym: "Underdeveloped prostate" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1844923 is_a: HP:0008775 ! Abnormality of the prostate [Term] id: HP:0008689 name: Bilateral cryptorchidism alt_id: HP:0008686 def: "Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:probinson] synonym: "Cryptorchidism, bilateral" EXACT [] xref: MSH:D003456 xref: SNOMEDCT_US:268228006 xref: UMLS:C0431663 is_a: HP:0000028 ! Cryptorchidism [Term] id: HP:0008691 name: Solitary bladder diverticulum def: "Presence of a single diverticulum (sac or pouch) in the wall of the urinary bladder." [Eurenomics:fschaefer] xref: UMLS:C4024639 is_a: HP:0000015 ! Bladder diverticulum [Term] id: HP:0008694 name: obsolete Hypertrophic labia minora is_obsolete: true [Term] id: HP:0008695 name: Transient nephrotic syndrome synonym: "Transient nephrosis" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4024638 is_a: HP:0000100 ! Nephrotic syndrome [Term] id: HP:0008696 name: Renal hamartoma def: "A disordered proliferation of mature tissues that are native to the kidneys." [DDD:rscott, HPO:probinson] xref: UMLS:C1840396 is_a: HP:0009726 ! Renal neoplasm is_a: HP:0010566 ! Hamartoma [Term] id: HP:0008697 name: Hypoplasia of the fallopian tube def: "Developmental hypoplasia of the fallopian tube." [HPO:probinson] synonym: "Rudimentary fallopian tubes" RELATED [] synonym: "Underdeveloped fallopian tube" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1968706 is_a: HP:0008655 ! Aplasia/Hypoplasia of the fallopian tube [Term] id: HP:0008702 name: Absent internal genitalia xref: UMLS:C4024637 is_a: HP:0000812 ! Abnormal internal genitalia [Term] id: HP:0008703 name: Gonadal calcification def: "Deposition of calcium salts in gonadal tissue." [HPO:probinson] xref: UMLS:C4024636 is_a: HP:0000812 ! Abnormal internal genitalia is_a: HP:0010766 ! Ectopic calcification [Term] id: HP:0008705 name: Ureteral triplication xref: UMLS:C4024635 is_a: HP:0000073 ! Ureteral duplication [Term] id: HP:0008706 name: Distal urethral duplication xref: UMLS:C4024634 is_a: HP:0000795 ! Abnormality of the urethra [Term] id: HP:0008707 name: Absent scrotum def: "Congenital absence of the scrotum." [HPO:probinson] comment: Both the sac and rugae are absent. This finding may be accompanied by an (Apparently) absent testis and Cryptorchidism, which should be coded separately. synonym: "Absent scrotum" EXACT layperson [] xref: SNOMEDCT_US:249233008 xref: UMLS:C0426320 is_a: HP:0000045 ! Abnormality of the scrotum [Term] id: HP:0008708 name: Partial development of the penile shaft xref: UMLS:C1837379 is_a: HP:0000036 ! Abnormality of the penis [Term] id: HP:0008711 name: Benign prostatic hyperplasia def: "The presence of non-malignant hyperplasia of the prostate." [HPO:probinson] synonym: "Benign prostatic hypertrophy" EXACT [] xref: MSH:D011470 xref: SNOMEDCT_US:266569009 xref: UMLS:C0005001 xref: UMLS:C1704272 is_a: HP:0008775 ! Abnormality of the prostate [Term] id: HP:0008714 name: Ureterovesical stenosis xref: UMLS:C4024633 is_a: HP:0000071 ! Ureteral stenosis [Term] id: HP:0008715 name: Testicular dysgenesis xref: SNOMEDCT_US:253847002 xref: UMLS:C0302885 is_a: HP:0000035 ! Abnormal testis morphology [Term] id: HP:0008716 name: Urethrovaginal fistula def: "The presence of a fistula between the vagina and the urethra." [HPO:probinson] synonym: "Urethrovaginal fistulae" EXACT [] xref: SNOMEDCT_US:50477003 xref: UMLS:C0269133 is_a: HP:0004320 ! Vaginal fistula is_a: HP:0010480 ! Urethral fistula [Term] id: HP:0008717 name: Unilateral renal atrophy def: "A unilateral form of atrophy of the kidney." [HPO:probinson] synonym: "Kidney degeneration on one side" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Unilateral kidney wasting" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:424998002 xref: UMLS:C1827184 is_a: HP:0012585 ! Renal atrophy [Term] id: HP:0008718 name: Unilateral renal dysplasia def: "A unilateral form of developmental dysplasia of the kidney." [HPO:probinson] xref: SNOMEDCT_US:204951002 xref: UMLS:C0431697 is_a: HP:0000110 ! Renal dysplasia [Term] id: HP:0008720 name: Primary testicular failure xref: SNOMEDCT_US:370997001 xref: SNOMEDCT_US:48723006 xref: UMLS:C1384582 is_a: HP:0000035 ! Abnormal testis morphology [Term] id: HP:0008722 name: Urethral diverticulum def: "The presence of a diverticulum (sac or pouch) in the wall of the urethra." [HPO:curators] xref: SNOMEDCT_US:90531003 xref: UMLS:C0152443 is_a: HP:0000795 ! Abnormality of the urethra [Term] id: HP:0008723 name: Gonadal dysgenesis with female appearance, male def: "Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation." [HPO:sdoelken] comment: Very bad term - try to get rid of it later. synonym: "Xy female gonadal dysgenesis" RELATED [] xref: UMLS:C4020788 xref: UMLS:C4024632 is_a: HP:0000133 ! Gonadal dysgenesis [Term] id: HP:0008724 name: Hypoplasia of the ovary def: "Developmental hypoplasia of the ovary." [HPO:probinson] synonym: "Hypoplastic ovary" RELATED [] synonym: "Underdeveloped ovary" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:93279005 xref: UMLS:C0685840 xref: UMLS:C1835452 is_a: HP:0010462 ! Aplasia/Hypoplasia of the ovary [Term] id: HP:0008726 name: Hypoplasia of the vagina alt_id: HP:0011938 def: "Developmental hypoplasia of the vagina." [HPO:probinson] synonym: "Hypoplastic vagina" RELATED [] synonym: "Rudimentary vagina" EXACT [] synonym: "Underdeveloped vagina" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:253836009 xref: UMLS:C0345309 xref: UMLS:C1442988 is_a: HP:0011026 ! Aplasia/Hypoplasia of the vagina [Term] id: HP:0008729 name: Absence of labia majora synonym: "Absent vaginal lips" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1849575 is_a: HP:0012881 ! Abnormality of the labia majora [Term] id: HP:0008730 name: Female external genitalia in individual with 46,XY karyotype alt_id: HP:0008719 def: "The presence of female external genitalia in a person with a male karyotype." [HPO:probinson] synonym: "Males with female external genitalia" EXACT [] xref: UMLS:C1848178 is_a: HP:0000032 ! Abnormality of male external genitalia [Term] id: HP:0008732 name: Renal hypophosphatemia def: "Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion." [PMID:22392950, PMID:30180816] comment: Three primary mechanisms of hypophosphatemia exist: increased renal excretion, decreased intestinal absorption, and movement of phosphate from the extracellular to intracellular compartments. The initial step in diagnosis involves determining whether hypophosphatemia is renal or nonrenal. xref: UMLS:C4024631 is_a: HP:0002148 ! Hypophosphatemia [Term] id: HP:0008733 name: Dysplastic testes xref: UMLS:C1837380 is_a: HP:0000035 ! Abnormal testis morphology [Term] id: HP:0008734 name: Decreased testicular size alt_id: HP:0000043 def: "Reduced volume of the testicle (the male gonad)." [HPO:probinson] synonym: "Decreased testicular size" EXACT layperson [] synonym: "Hypoplastic testes" EXACT [] synonym: "Small testes" EXACT layperson [] synonym: "Small testis" EXACT layperson [] synonym: "Testicular hypoplasia" EXACT [] xref: SNOMEDCT_US:276411001 xref: UMLS:C0241355 is_a: HP:0000050 ! Hypoplastic male external genitalia is_a: HP:0010468 ! Aplasia/Hypoplasia of the testes [Term] id: HP:0008736 name: Hypoplasia of penis alt_id: HP:0008632 synonym: "Underdeveloped penis" EXACT layperson [] xref: SNOMEDCT_US:34911001 xref: UMLS:C0266435 is_a: HP:0000036 ! Abnormality of the penis is_a: HP:0000050 ! Hypoplastic male external genitalia [Term] id: HP:0008738 name: Partially duplicated kidney def: "The presence of a partially duplicated kidney." [HPO:probinson] synonym: "Partially duplicated kidney" EXACT layperson [] xref: UMLS:C4024630 is_a: HP:0000075 ! Renal duplication [Term] id: HP:0008739 name: Labial pseudohypertrophy xref: UMLS:C1835380 is_a: HP:0000065 ! Labial hypertrophy [Term] id: HP:0008740 name: Longitudinal vaginal septum alt_id: HP:0008698 def: "The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication." [HPO:curators] synonym: "Vertical vaginal septum" EXACT [] xref: UMLS:C1841680 is_a: HP:0001153 ! Septate vagina [Term] id: HP:0008742 name: Prominent prostate median bar xref: UMLS:C4024629 is_a: HP:0008775 ! Abnormality of the prostate [Term] id: HP:0008743 name: Coronal hypospadias def: "A mild form of hypospadias in which the urethra opens just under the corona glandis." [HPO:probinson] synonym: "Subcoronal hypospadias" RELATED [] xref: SNOMEDCT_US:429641000124109 xref: UMLS:C1394030 xref: UMLS:C4020787 is_a: HP:0000047 ! Hypospadias [Term] id: HP:0008744 name: Abnormality of the aryepiglottic fold def: "An abnormality of the aryepiglottic fold." [HPO:probinson] comment: The aryepiglottic fold is a fold of mucous membrane extending on each side between the lateral border of the epiglottis and the summit of the arytenoid cartilage. synonym: "Abnormal aryepiglottic folds" EXACT [] xref: UMLS:C1849357 is_a: HP:0025423 ! Abnormal larynx morphology [Term] id: HP:0008747 name: Cartilaginous ossification of larynx def: "Ossification affecting the set of cartilages of larynx." [HPO:probinson] comment: This term describes abnormal ossification affecting one or more of the cartilages of the larnyx (cricoid cartilage, thyroid cartilage, epiglottic cartilage, arytenoid cartilage, corniculate cartilage, cuneiform cartilage, triticeal cartilage, and sesamoid cartilage). xref: UMLS:C1855622 is_a: HP:0025423 ! Abnormal larynx morphology [Term] id: HP:0008749 name: Laryngeal hypoplasia alt_id: HP:0005935 def: "Underdevelopment of the larynx." [HPO:probinson] synonym: "Hypoplastic larynx" EXACT [] xref: SNOMEDCT_US:253736003 xref: UMLS:C0431527 is_a: HP:0025423 ! Abnormal larynx morphology [Term] id: HP:0008750 name: Laryngeal atresia def: "Congenital absence of the lumen of the larynx." [eMedicine:837630, HPO:probinson, pmid:17715321] comment: Laryngeal atresia results from failure of recanalization of the laryngotracheal tube during the third month of gestation. Laryngeal atresia manifests as acute airway obstruction in the newborn immediately following clamping of the umbilical cord and is fatal without immediate airway management with a tracheotomy. Congenital laryngeal atresia is a rare anomaly that is mostly incompatible with life. Most authors claim that this malformation is related to an arrest of the sixth brachial arch at different gestational stages during normal embryologic development. Complete laryngeal atresia results in a desperate emergency during the first few moments of life, and surgical intervention must occur within 2 to 5 minutes of birth to enable respiration. The most dramatic physical finding is that the child is aphonic, with absence of any cry or gasp at birth. xref: SNOMEDCT_US:64981002 xref: UMLS:C0265756 is_a: HP:0025423 ! Abnormal larynx morphology [Term] id: HP:0008751 name: Laryngeal cleft def: "Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esopahagus." [HPO:probinson, pmid:17178945] comment: Embryologically, the trachea and esophagus share a common lumen until they are separated by the development of the tracheoesophageal septum. Failure of this fusion and incomplete development of the tracheoesophageal septum may lead to congenital abnormalities such as isolatedlaryngeal cleft, tracheoesophageal fistula, and esophageal atresia, depending on the severity of the abnormality. Patients with laryngeal cleft may present with feeding difficulty, chronic cough, stridor, pneumonia or respiratory distress, depending on the size of the cleft. synonym: "Laryngotracheal cleft" EXACT [] synonym: "Laryngotracheoesophageal cleft i" EXACT [] xref: MSH:C537875 xref: SNOMEDCT_US:232461002 xref: UMLS:C1840311 is_a: HP:0025423 ! Abnormal larynx morphology [Term] id: HP:0008752 name: Laryngeal cartilage malformation alt_id: HP:0008375 def: "A malformation of the laryngeal cartilage." [HPO:probinson] synonym: "Vocal impairment, severe, due to laryngeal cartilage abnormalities" EXACT [] xref: UMLS:C4021530 is_a: HP:0025423 ! Abnormal larynx morphology [Term] id: HP:0008753 name: Aplasia of the epiglottis def: "Absence of the epiglottis." [HPO:probinson] synonym: "Absent epiglottis" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4024628 is_a: HP:0010565 ! Aplasia/Hypoplasia of the Epiglottis [Term] id: HP:0008754 name: Laryngeal calcification alt_id: HP:0008748 def: "Calcification (abnormal deposits of calcium) in the laryngeal tissues." [HPO:probinson] synonym: "Laryngeal calcifications" EXACT [] xref: UMLS:C1859158 is_a: HP:0010766 ! Ectopic calcification is_a: HP:0025423 ! Abnormal larynx morphology [Term] id: HP:0008755 name: Laryngotracheomalacia xref: SNOMEDCT_US:308232009 xref: UMLS:C0585984 is_a: HP:0002779 ! Tracheomalacia [Term] id: HP:0008756 name: Bowing of the vocal cords def: "Bowing (abnormal curvature) of the vocal folds." [HPO:probinson] xref: SNOMEDCT_US:232448002 xref: UMLS:C0396064 is_a: HP:0008777 ! Abnormal vocal cord morphology [Term] id: HP:0008757 name: Unilateral vocal cord paralysis def: "A loss of the ability to move the vocal fold on one side." [HPO:probinson] synonym: "Unilateral paralysis of the vocal cord" EXACT [] xref: MSH:D014826 xref: UMLS:C0751575 is_a: HP:0001605 ! Vocal cord paralysis [Term] id: HP:0008760 name: Violent behavior synonym: "Violent behavior" EXACT layperson [] xref: SNOMEDCT_US:248004009 xref: UMLS:C0424323 is_a: HP:0006919 ! Abnormal aggressive, impulsive or violent behavior [Term] id: HP:0008762 name: Repetitive compulsive behavior synonym: "Repetitive compulsive behavior" EXACT layperson [] xref: UMLS:C1969697 is_a: HP:0000733 ! Stereotypy [Term] id: HP:0008763 name: No social interaction synonym: "No social interaction" EXACT layperson [] xref: UMLS:C1849683 is_a: HP:0000735 ! Impaired social interactions [Term] id: HP:0008765 name: Auditory hallucinations alt_id: HP:0000714 synonym: "Hallucinations of sound" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hearing sounds" EXACT layperson [] xref: MSH:D006212 xref: SNOMEDCT_US:45150006 xref: UMLS:C0233762 is_a: HP:0000738 ! Hallucinations [Term] id: HP:0008767 name: Self-mutilation of tongue and lips due to involuntary movements synonym: "Self-mutilation of tongue and lips due to involuntary movements" EXACT layperson [] xref: UMLS:C1860219 is_a: HP:0000742 ! Self-mutilation is_a: HP:0004305 ! Involuntary movements [Term] id: HP:0008768 name: Inappropriate sexual behavior synonym: "Inappropriate sexual behavior" EXACT layperson [] xref: SNOMEDCT_US:248099006 xref: UMLS:C0474420 is_a: HP:0000719 ! Inappropriate behavior [Term] id: HP:0008770 name: Obsessive-compulsive trait alt_id: HP:0008761 def: "The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant." [HPO:curators] synonym: "Obsessive-compulsive trait" EXACT layperson [] synonym: "Obsessive-compulsive traits" EXACT layperson [] xref: UMLS:C1834433 is_a: HP:0000722 ! Obsessive-compulsive behavior [Term] id: HP:0008771 name: Aplasia/Hypoplasia of the ear def: "The presence of aplasia or developmental hypoplasia of the ear." [HPO:probinson] synonym: "Absent/small ear" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped ear" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024627 is_a: HP:0031703 ! Abnormal ear morphology created_by: peter creation_date: 2008-04-04T05:44:00Z [Term] id: HP:0008772 name: Aplasia/Hypoplasia of the external ear def: "The presence of aplasia or developmental hypoplasia of all or part of the external ear." [HPO:probinson] synonym: "Absent/small external ear" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped external ear" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024626 is_a: HP:0000356 ! Abnormality of the outer ear is_a: HP:0008771 ! Aplasia/Hypoplasia of the ear created_by: peter creation_date: 2008-04-04T05:45:00Z [Term] id: HP:0008773 name: Aplasia/Hypoplasia of the middle ear alt_id: HP:0008533 alt_id: HP:0008548 def: "Aplasia or developmental hypoplasia of all or part of the middle ear." [HPO:probinson] synonym: "Absent/small middle ear" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped middle ear" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hypoplastic/aplastic middle ear structures" EXACT [] synonym: "Middle ear hypoplasia/aplasia" EXACT [] xref: UMLS:C4021529 is_a: HP:0008609 ! Morphological abnormality of the middle ear is_a: HP:0008771 ! Aplasia/Hypoplasia of the ear created_by: peter creation_date: 2008-04-04T05:47:00Z [Term] id: HP:0008774 name: Aplasia/Hypoplasia of the inner ear def: "Aplasia or developmental hypoplasia of the inner ear." [HPO:probinson] synonym: "Absent/small inner ear" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped inner ear" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024625 is_a: HP:0008771 ! Aplasia/Hypoplasia of the ear is_a: HP:0011390 ! Morphological abnormality of the inner ear created_by: peter creation_date: 2008-04-04T05:48:00Z [Term] id: HP:0008775 name: Abnormality of the prostate def: "An abnormality of the prostate." [HPO:probinson] synonym: "Abnormality of the prostate" EXACT layperson [] xref: UMLS:C0747987 is_a: HP:0000022 ! Abnormality of male internal genitalia created_by: peter creation_date: 2008-04-04T06:01:00Z [Term] id: HP:0008776 name: Abnormal renal artery morphology def: "Any structural abnormality of the renal artery." [HPO:probinson] synonym: "Abnormal kidney artery" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the renal artery" EXACT [] xref: UMLS:C4024624 is_a: HP:0011004 ! Abnormal systemic arterial morphology is_a: HP:0012210 ! Abnormal renal morphology created_by: peter creation_date: 2008-04-04T06:13:00Z [Term] id: HP:0008777 name: Abnormal vocal cord morphology def: "An abnormality of the vocal cord." [HPO:probinson] comment: The vocal cords, also known as the vocal folds, represent a subdivision of the larynx, and consist of twin infoldings of mucous membrane stretched horizontally across the larynx. synonym: "Abnormality of the vocal cords" EXACT layperson [] xref: UMLS:C0262665 is_a: HP:0025423 ! Abnormal larynx morphology created_by: peter creation_date: 2008-04-04T06:18:00Z [Term] id: HP:0008780 name: Congenital bilateral hip dislocation xref: SNOMEDCT_US:10155006 xref: UMLS:C0158713 is_a: HP:0001374 ! Congenital hip dislocation [Term] id: HP:0008783 name: Wide proximal femoral metaphysis alt_id: HP:0008790 def: "Increased width of the proximal part of the shaft (metaphysis) of the femur." [HPO:probinson] synonym: "Wide metaphysis of innermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024623 is_a: HP:0006417 ! Broad femoral metaphyses is_a: HP:0006431 ! Proximal femoral metaphyseal abnormality [Term] id: HP:0008784 name: Wide capital femoral epiphyses def: "Abnormally wide morphology of the proximal epiphysis of the femur." [HPO:probinson] synonym: "Wide end part of innermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024622 is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head [Term] id: HP:0008785 name: Delayed ossification of pubic rami def: "Delayed maturation and calcification of the rami (branches) of the pubic bone." [HPO:probinson] xref: UMLS:C1865363 is_a: HP:0009105 ! Abnormal ossification of the pubic bone [Term] id: HP:0008786 name: Iliac crest serration alt_id: HP:0008825 def: "Irregularities of the iliac crest that produce the appearance of a lace border around it." [HPO:probinson] synonym: "Irregular lacy iliac crest" EXACT [] synonym: "Lacy appearance of iliac crest" EXACT [] xref: UMLS:C1857186 is_a: HP:0003796 ! Irregular iliac crest [Term] id: HP:0008788 name: Delayed pubic bone ossification alt_id: HP:0008795 alt_id: HP:0008827 def: "Delayed maturation and calcification of the pubic bone." [HPO:probinson] subset: hposlim_core synonym: "Absent pubic ossification in infancy" EXACT [] synonym: "Delayed maturation fo pubic bone" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Delayed mineralization of pubic bone" RELATED layperson [] xref: UMLS:C1861528 xref: UMLS:C1866710 xref: UMLS:C4280411 is_a: HP:0009105 ! Abnormal ossification of the pubic bone [Term] id: HP:0008789 name: Cone-shaped capital femoral epiphysis def: "A cone-shaped deformity of the proximal epiphysis of the femur." [HPO:probinson] synonym: "Cone-shaped end part of innermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1846157 is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head is_a: HP:0010579 ! Cone-shaped epiphysis [Term] id: HP:0008794 name: Dysplastic iliac wings xref: UMLS:C1837487 is_a: HP:0011867 ! Abnormality of the wing of the ilium [Term] id: HP:0008796 name: Externally rotated hips synonym: "Externally rotated hips" EXACT layperson [] xref: UMLS:C1846339 is_a: HP:0003783 ! Externally rotated/abducted legs [Term] id: HP:0008797 name: Early ossification of capital femoral epiphyses def: "Developmental acceleration of ossification of the proximal epiphysis of the femur." [HPO:probinson] xref: UMLS:C4024621 is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head is_a: HP:0010656 ! Abnormal epiphyseal ossification [Term] id: HP:0008798 name: Widened sacrosciatic notch def: "The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a increase in the lateral dimension of the notch." [HPO:probinson] xref: UMLS:C4024620 is_a: HP:0030266 ! Abnormality of the sacroiliac notch [Term] id: HP:0008800 name: Limited hip movement def: "A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip." [HPO:probinson] synonym: "Limited hip movement" EXACT layperson [] xref: UMLS:C1851542 is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0002644 ! Abnormality of pelvic girdle bone morphology [Term] id: HP:0008801 name: Hypoplasia of the lesser trochanter def: "Underdevelopment of the lesser trochanter." [HPO:probinson] synonym: "Lesser trochanter hypoplasia" EXACT [] xref: UMLS:C1840062 is_a: HP:0003366 ! Abnormality of the femoral neck or head region [Term] id: HP:0008802 name: Hypoplasia of the femoral head alt_id: HP:0008831 def: "Underdevelopment of the femoral head." [HPO:probinson] synonym: "Hypoplastic femoral head" EXACT [] synonym: "Small femoral heads" EXACT [] synonym: "Small head of thigh bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1856920 is_a: HP:0003368 ! Abnormality of the femoral head is_a: HP:0009108 ! Aplasia/Hypoplasia involving the femoral head and neck [Term] id: HP:0008803 name: Narrow sacroiliac notch def: "The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the lateral dimension of the notch." [HPO:probinson] xref: UMLS:C1850087 is_a: HP:0030266 ! Abnormality of the sacroiliac notch [Term] id: HP:0008804 name: Broad femoral head def: "Increased width of the femoral head." [HPO:probinson] synonym: "Wide head of thigh bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024619 is_a: HP:0003368 ! Abnormality of the femoral head [Term] id: HP:0008807 name: Acetabular dysplasia alt_id: HP:0008799 def: "The presence of developmental dysplasia of the acetabular part of hip bone." [HPO:probinson] synonym: "Dysplastic acetabulae" EXACT [] xref: MSH:D006617 xref: UMLS:C1328407 is_a: HP:0003170 ! Abnormality of the acetabulum [Term] id: HP:0008808 name: High iliac wings alt_id: HP:0008778 def: "Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally)." [HPO:probinson] synonym: "Narrow, high iliac wings" EXACT [] xref: UMLS:C1969680 is_a: HP:0011867 ! Abnormality of the wing of the ilium [Term] id: HP:0008812 name: Flattened femoral head def: "An abnormally flattened femoral head." [HPO:probinson] synonym: "Flat head of thigh bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Flattened femoral heads" RELATED [HPO:skoehler] xref: UMLS:C1860601 is_a: HP:0003368 ! Abnormality of the femoral head [Term] id: HP:0008817 name: Aplastic pubic bones synonym: "Absent pubic bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1848660 is_a: HP:0009104 ! Aplasia/Hypoplasia of the pubic bone [Term] id: HP:0008818 name: Large iliac wings def: "Increased size of the ilium ala." [HPO:probinson] xref: UMLS:C4024618 is_a: HP:0011867 ! Abnormality of the wing of the ilium [Term] id: HP:0008819 name: Narrow femoral neck def: "An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [HPO:probinson] synonym: "Narrow femoral necks" RELATED [HPO:skoehler] synonym: "Narrow neck of thigh bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1863739 is_a: HP:0003367 ! Abnormality of the femoral neck [Term] id: HP:0008820 name: Absent ossification of capital femoral epiphysis def: "Lack of ossification of the proximal epiphysis of the femur." [HPO:probinson] comment: The ossification center of the capital femoral epiphysis appears at the end of the first year after birth. synonym: "Absent ossification of femoral capital epiphyses" EXACT [] xref: UMLS:C1968686 is_a: HP:0005003 ! Aplasia/Hypoplasia of the capital femoral epiphysis is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck is_a: HP:0010656 ! Abnormal epiphyseal ossification [Term] id: HP:0008821 name: Hypoplastic inferior ilia xref: UMLS:C1837078 is_a: HP:0000946 ! Hypoplastic ilia [Term] id: HP:0008822 name: Hypoplastic ischiopubic rami def: "Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium." [HPO:probinson] xref: UMLS:C4024617 is_a: HP:0003173 ! Hypoplastic pubic bone is_a: HP:0003175 ! Hypoplastic ischia [Term] id: HP:0008823 name: Hypoplastic inferior pubic rami xref: UMLS:C1853573 is_a: HP:0003173 ! Hypoplastic pubic bone [Term] id: HP:0008824 name: Hypoplastic iliac body alt_id: HP:0005740 def: "Underdevelopment of the body of ilium." [HPO:probinson] synonym: "Hypoplastic iliac bodies" EXACT [HPO:skoehler] synonym: "Small iliac bodies" EXACT [HPO:skoehler] xref: UMLS:C1849034 is_a: HP:0000946 ! Hypoplastic ilia [Term] id: HP:0008826 name: Dislocation of the femoral head def: "Joint dislocation of the femoral head." [HPO:probinson] synonym: "Dislocated femoral heads" EXACT [] synonym: "Dislocated head of thigh bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1859446 is_a: HP:0003368 ! Abnormality of the femoral head is_a: HP:0030311 ! Lower extremity joint dislocation [Term] id: HP:0008828 name: Delayed proximal femoral epiphyseal ossification def: "Developmental delay of ossification of the proximal epiphysis of the femur." [HPO:probinson] comment: The proximal femoral epiphyseal ossification center normally appears at about age 6 months. synonym: "Delayed ossification of the proximal femoral epiphysis" EXACT [] synonym: "Delayed ossification proximal femoral epiphyses" EXACT [] xref: UMLS:C1855222 is_a: HP:0002663 ! Delayed epiphyseal ossification is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head [Term] id: HP:0008829 name: Delayed femoral head ossification def: "Delayed ossification of the femoral head." [HPO:probinson] synonym: "Delayed maturation of the head of the thigh bone" RELATED layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1846446 xref: UMLS:C4280410 is_a: HP:0003368 ! Abnormality of the femoral head is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck [Term] id: HP:0008830 name: Hypoplastic pubic rami xref: UMLS:C1969176 is_a: HP:0003173 ! Hypoplastic pubic bone [Term] id: HP:0008833 name: Irregular acetabular roof xref: UMLS:C1834975 is_a: HP:0003170 ! Abnormality of the acetabulum [Term] id: HP:0008835 name: Multicentric femoral head ossification def: "There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers." [HPO:probinson] comment: Additionally, the ossification center of the capital femoral epiphysis appears at the end of the first year after birth. This is not what this term refers to. xref: UMLS:C1846447 is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck [Term] id: HP:0008838 name: Stippled calcification proximal humeral epiphyses synonym: "Speckled calcifications in end part of innermost long bone of upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1857243 is_a: HP:0003901 ! Stippled calcification of the humeral epiphyses [Term] id: HP:0008839 name: Hypoplastic pelvis alt_id: HP:0003373 alt_id: HP:0008816 def: "Underdevelopment of the bony pelvis." [HPO:probinson] subset: hposlim_core synonym: "Hypoplastic pelvic bones" EXACT [] synonym: "Small pelvis" EXACT [] xref: UMLS:C3536734 is_a: HP:0009103 ! Aplasia/Hypoplasia involving the pelvis [Term] id: HP:0008843 name: Hip osteoarthritis alt_id: HP:0008809 synonym: "Osteoarthritis of hip" EXACT [] xref: MSH:D015207 xref: SNOMEDCT_US:239872002 xref: UMLS:C0029410 is_a: HP:0002758 ! Osteoarthritis [Term] id: HP:0008845 name: Mesomelic short stature alt_id: HP:0008896 alt_id: HP:0008903 alt_id: HP:0008910 def: "A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg)." [HPO:probinson] synonym: "Dwarfism, short limb mesomelic" EXACT [] synonym: "Mesomelic dwarfism" EXACT HP:0031859 [] synonym: "Short stature, disproportionate mesomelic" EXACT [] synonym: "Short stature, mesomelic" EXACT [] xref: UMLS:C1855274 is_a: HP:0008873 ! Disproportionate short-limb short stature [Term] id: HP:0008846 name: Severe intrauterine growth retardation alt_id: HP:0008899 alt_id: HP:0008906 def: "Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age." [HPO:probinson] synonym: "Intrauterine growth retardation, severe" EXACT [] synonym: "Severe prenatal growth deficiency" EXACT layperson [] xref: UMLS:C1855843 is_a: HP:0001511 ! Intrauterine growth retardation [Term] id: HP:0008848 name: Moderately short stature alt_id: HP:0008891 def: "A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex." [DDD:hfirth] synonym: "Moderate short stature" EXACT layperson [] synonym: "Short stature, moderate" RELATED [HPO:skoehler] xref: UMLS:C1861519 is_a: HP:0003508 ! Proportionate short stature [Term] id: HP:0008850 name: Severe postnatal growth retardation alt_id: HP:0001521 alt_id: HP:0008854 alt_id: HP:0008911 alt_id: HP:0008932 def: "Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms." [DDD:hfirth] synonym: "Marked growth retardation" EXACT layperson [] synonym: "Severe growth delay in children" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Severe postnatal growth deficiency" EXACT [] synonym: "Severe postnatal growth failure" EXACT layperson [] xref: UMLS:C1857641 is_a: HP:0008897 ! Postnatal growth retardation [Term] id: HP:0008855 name: Moderate postnatal growth retardation def: "A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms." [DDD:hfirth] synonym: "Moderate growth delay in children" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024616 is_a: HP:0008897 ! Postnatal growth retardation [Term] id: HP:0008857 name: Neonatal short-trunk short stature def: "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth." [HPO:probinson] synonym: "Short-trunk dwarfism identifiable at birth" EXACT [] xref: UMLS:C3149908 is_a: HP:0003521 ! Disproportionate short-trunk short stature [Term] id: HP:0008866 name: Failure to thrive secondary to recurrent infections def: "Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections." [https://en.wikipedia.org/wiki/Failure_to_thrive] synonym: "Faltering weight secondary to recurrent infections" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Weight faltering secondary to recurrent infections" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1832323 is_a: HP:0001508 ! Failure to thrive is_a: HP:0002719 ! Recurrent infections is_a: HP:0032169 ! Severe infection [Term] id: HP:0008872 name: Feeding difficulties in infancy alt_id: HP:0002016 alt_id: HP:0002022 alt_id: HP:0002568 def: "Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention." [HPO:probinson] xref: UMLS:C2674608 is_a: HP:0011968 ! Feeding difficulties [Term] id: HP:0008873 name: Disproportionate short-limb short stature alt_id: HP:0001523 alt_id: HP:0003505 alt_id: HP:0003509 alt_id: HP:0008858 alt_id: HP:0008869 alt_id: HP:0008875 alt_id: HP:0008880 alt_id: HP:0008881 alt_id: HP:0008889 alt_id: HP:0008912 alt_id: HP:0008914 alt_id: HP:0008928 def: "A type of disproportionate short stature characterized by a short limbs but an average-sized trunk." [HPO:probinson] comment: A type of dwarfism (marked short stature with adult height below 147 cm) in which the limbs are disproportionatley affected. Note that brachymelia is a general term refering to shortening of the limbs. Micromelia refers to the shortening of entire limbs (in contrast to rhizomelia, mesomelia, and acromelia, which refer to shortening of the proximal, middle, or distal portions of the limbs). subset: hposlim_core synonym: "Brachymelic dwarfism" EXACT [] synonym: "Disproportionate short limb dwarfism" EXACT [] synonym: "Dwarfism, short-limbed" EXACT [] synonym: "Micromelic dwarfism" EXACT [] synonym: "Short limb dwarfism" RELATED layperson [HPO:skoehler] synonym: "Short limb dwarfism, disproportionate" EXACT layperson [] synonym: "Short stature, disproportionate short limb" EXACT [] synonym: "Short stature, disproportionate short-limb" EXACT [] synonym: "Short-limb dwarfism" EXACT [] synonym: "Short-limbed dwarfism" EXACT layperson [] xref: UMLS:C1849937 is_a: HP:0003498 ! Disproportionate short stature [Term] id: HP:0008883 name: Mild intrauterine growth retardation alt_id: HP:0008861 def: "Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age." [DDD:hfirth] synonym: "Mild prenatal growth deficiency" EXACT [] xref: UMLS:C1840006 is_a: HP:0001511 ! Intrauterine growth retardation [Term] id: HP:0008887 name: Adipose tissue loss alt_id: HP:0008938 def: "A loss of adipose tissue." [HPO:probinson] synonym: "Loss of fat tissue" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024615 is_a: HP:0040063 ! Decreased adipose tissue [Term] id: HP:0008890 name: Severe short-limb dwarfism xref: UMLS:C1860105 is_a: HP:0008873 ! Disproportionate short-limb short stature [Term] id: HP:0008897 name: Postnatal growth retardation alt_id: HP:0008844 alt_id: HP:0008865 alt_id: HP:0008868 alt_id: HP:0008901 alt_id: HP:0008918 def: "Slow or limited growth after birth." [DDD:hfirth] synonym: "Growth delay as children" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Growth retardation as children" EXACT [] synonym: "Postnatal growth deceleration" EXACT [] synonym: "Postnatal growth deficiency" EXACT [] synonym: "Postnatal growth failure" EXACT [] xref: UMLS:C1859778 is_a: HP:0001510 ! Growth delay [Term] id: HP:0008905 name: Rhizomelia alt_id: HP:0002968 alt_id: HP:0003520 alt_id: HP:0008852 alt_id: HP:0008877 def: "Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus)." [HPO:probinson] subset: hposlim_core synonym: "Disproportionately short upper portion of limb" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Rhizomelic dwarfism" EXACT [] synonym: "Rhizomelic limb shortening" EXACT [] synonym: "Rhizomelic short limbs" EXACT [] synonym: "Rhizomelic short stature" EXACT [] synonym: "Rhizomelic shortening" EXACT [] synonym: "Short stature, rhizomelic" EXACT [] synonym: "Symmetrical rhizomelic limb shortening" EXACT [] xref: UMLS:C1866730 is_a: HP:0008873 ! Disproportionate short-limb short stature is_a: HP:0009826 ! Limb undergrowth [Term] id: HP:0008909 name: Lethal short-limbed short stature alt_id: HP:0003506 synonym: "Lethal micromelic dwarfism" EXACT [] synonym: "Lethal short-limbed dwarfism" EXACT [] xref: UMLS:C2674171 is_a: HP:0008873 ! Disproportionate short-limb short stature [Term] id: HP:0008915 name: Childhood-onset truncal obesity alt_id: HP:0008874 def: "Truncal obesity with onset during childhood, defined as between 2 and 10 years of age." [HPO:probinson] synonym: "Truncal obesity apparent in childhood" EXACT [] xref: UMLS:C1859846 is_a: HP:0001956 ! Truncal obesity [Term] id: HP:0008921 name: Neonatal short-limb short stature alt_id: HP:0001536 alt_id: HP:0008894 alt_id: HP:0008902 alt_id: HP:0008924 def: "A type of short-limbed dwarfism that is manifest beginning in the neonatal period." [HPO:probinson] synonym: "Dwarfism, neonatal short-limbed" EXACT [] synonym: "Neonatal short-limbed dwarfism" EXACT [] synonym: "Short limb dwarfism recognizable at birth" EXACT layperson [] synonym: "Short-limb dwarfism identifiable at birth" EXACT layperson [] synonym: "Short-limb dwarfism identifiable neonatally" EXACT [] synonym: "Short-limbed dwarfism identifiable at birth" EXACT layperson [] xref: UMLS:C1850171 is_a: HP:0008873 ! Disproportionate short-limb short stature [Term] id: HP:0008922 name: Childhood-onset short-trunk short stature alt_id: HP:0003522 def: "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood." [HPO:probinson] synonym: "Childhood-onset short-trunk short stature" EXACT layperson [] synonym: "Disproportionate short-trunk short stature, identifiable in childhood" EXACT layperson [] synonym: "Short-trunk dwarfism identifiable during childhood" EXACT layperson [] xref: UMLS:C3148833 is_a: HP:0003521 ! Disproportionate short-trunk short stature [Term] id: HP:0008929 name: Asymmetric short stature xref: UMLS:C4024614 is_a: HP:0004322 ! Short stature [Term] id: HP:0008935 name: Generalized neonatal hypotonia def: "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature." [HPO:probinson] synonym: "Generalized low muscle tone in neonate" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hypotonia, neonatal, generalized" EXACT [] xref: UMLS:C1845123 is_a: HP:0001319 ! Neonatal hypotonia [Term] id: HP:0008936 name: Muscular hypotonia of the trunk alt_id: HP:0002320 def: "Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk." [HPO:curators] synonym: "Axial hypotonia" EXACT [] synonym: "Low muscle tone in trunk" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Truncal hypotonia" EXACT [] xref: UMLS:C1853743 is_a: HP:0001252 ! Muscular hypotonia [Term] id: HP:0008940 name: Generalized lymphadenopathy def: "A generalized form of lymphadenopathy." [HPO:probinson] synonym: "Generalized swelling of lymph nodes" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Swollen lymph nodes affecting all regions of the body" EXACT layperson [] xref: SNOMEDCT_US:274741002 xref: UMLS:C0476486 is_a: HP:0002716 ! Lymphadenopathy [Term] id: HP:0008942 name: Acute rhabdomyolysis def: "An acute form of rhabdomyolysis." [HPO:probinson] synonym: "Rhabdomyolysis, acute" EXACT [] xref: UMLS:C3807306 is_a: HP:0003201 ! Rhabdomyolysis [Term] id: HP:0008944 name: Distal lower limb amyotrophy alt_id: HP:0003442 alt_id: HP:0003714 alt_id: HP:0006975 alt_id: HP:0008949 alt_id: HP:0009001 def: "Muscular atrophy of distal leg muscles." [HPO:probinson] comment: Distal lower limb muscle atrophy is commonly due to peripheral neuropathy. synonym: "Lower leg amyotrophy" EXACT [] synonym: "Lower limb atrophy" RELATED [] synonym: "Lower limb degeneration" EXACT [ORCID:0000-0001-5208-3432] synonym: "Lower limb muscle hypotrophy" RELATED [] synonym: "Muscle atrophy, lower limb, distal" EXACT [] xref: UMLS:C1836451 xref: UMLS:C1866863 xref: UMLS:C3806644 is_a: HP:0003693 ! Distal amyotrophy is_a: HP:0007210 ! Lower limb amyotrophy [Term] id: HP:0008945 name: Loss of ability to walk in early childhood xref: UMLS:C1835993 is_a: HP:0006915 ! Inability to walk by childhood/adolescence [Term] id: HP:0008946 name: Pelvic girdle amyotrophy def: "Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle." [HPO:probinson] synonym: "Hip girdle amyotrophy" EXACT [] xref: UMLS:C4021528 is_a: HP:0003797 ! Limb-girdle muscle atrophy [Term] id: HP:0008947 name: Infantile muscular hypotonia alt_id: HP:0002449 alt_id: HP:0002523 alt_id: HP:0010572 def: "Muscular hypotonia (abnormally low muscle tone) manifesting in infancy." [HPO:curators] comment: This term should not be used for new annotations. Instead, state the type of onset of hypotonia more exactly. synonym: "Decreased muscle tone in infant" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hypotonia early" EXACT [] synonym: "Hypotonia in infancy" EXACT [] synonym: "Hypotonia, early" EXACT [] synonym: "Infantile hypotonia" EXACT [] xref: UMLS:C1860834 is_a: HP:0001252 ! Muscular hypotonia [Term] id: HP:0008948 name: Proximal upper limb amyotrophy alt_id: HP:0008995 def: "Muscular atrophy affecting proximally located muscles of the arms." [HPO:curators] synonym: "Proximal muscle atrophy in upper limbs" EXACT [] synonym: "Proximal upper limb muscle atrophy" EXACT [] xref: UMLS:C1866013 is_a: HP:0001457 ! Abnormality of the musculature of the upper arm is_a: HP:0007126 ! Proximal amyotrophy [Term] id: HP:0008952 name: Shoulder muscle hypoplasia def: "Underdevelopment of muscles of the shoulder." [HPO:probinson] synonym: "Underdeveloped shoulder muscle" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1969001 is_a: HP:0001464 ! Aplasia/Hypoplasia involving the shoulder musculature is_a: HP:0009004 ! Hypoplasia of the musculature [Term] id: HP:0008953 name: Pectoralis major hypoplasia def: "Underdevelopment of the pectoralis major." [HPO:probinson] comment: The pectoralis major is a thick, fan-shaped muscle of the anterior chest. synonym: "Pectoralis major muscle hypoplasia" EXACT [] xref: UMLS:C1840086 is_a: HP:0011957 ! Abnormal pectoral muscle morphology [Term] id: HP:0008954 name: Intrinsic hand muscle atrophy def: "Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles." [HPO:probinson] xref: UMLS:C1864716 is_a: HP:0009130 ! Hand muscle atrophy [Term] id: HP:0008955 name: Progressive distal muscular atrophy def: "Progressive muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators] xref: UMLS:C4024613 is_a: HP:0003693 ! Distal amyotrophy [Term] id: HP:0008956 name: Proximal lower limb amyotrophy alt_id: HP:0003748 alt_id: HP:0008974 def: "Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh." [HPO:probinson] synonym: "Amyotrophy involving the thigh" EXACT [] synonym: "Amyotrophy of the thigh musculature" EXACT [] synonym: "Proximal lower limb muscle atrophy" EXACT [] synonym: "Thigh muscle atrophy" EXACT [] synonym: "Wasting of thigh muscle" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1836767 is_a: HP:0001441 ! Abnormality of the musculature of the thigh is_a: HP:0007126 ! Proximal amyotrophy [Term] id: HP:0008959 name: Distal upper limb muscle weakness def: "Reduced strength of the distal musculature of the arms." [HPO:probinson] xref: UMLS:C3150620 is_a: HP:0002460 ! Distal muscle weakness is_a: HP:0002817 ! Abnormality of the upper limb [Term] id: HP:0008962 name: Calf muscle hypoplasia def: "Underdevelopment of the muscuklature of the calf." [HPO:probinson] synonym: "Hypoplastic calf muscles" EXACT [] synonym: "Underdeveloped calf muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3805450 is_a: HP:0001430 ! Abnormality of the calf musculature is_a: HP:0009004 ! Hypoplasia of the musculature [Term] id: HP:0008963 name: Tibialis muscle weakness def: "Muscle weakness affecting the tibialis anterior muscle." [HPO:probinson] comment: This is a bundled term which should be made obsolete. xref: UMLS:C4024612 is_a: HP:0009053 ! Distal lower limb muscle weakness [Term] id: HP:0008964 name: Nonprogressive muscular atrophy def: "Muscular atrophy that does not display a progression in severity with time." [HPO:curators] xref: UMLS:C4024611 is_a: HP:0003202 ! Skeletal muscle atrophy [Term] id: HP:0008967 name: Exercise-induced muscle stiffness alt_id: HP:0003633 def: "A type of muscle stiffness that occurs following physical exertion." [HPO:probinson] synonym: "Exercise-induced muscle stiffness" EXACT layperson [] synonym: "Muscle stiffness with exercise" EXACT layperson [] synonym: "Muscle stiffness, exercise-induced" EXACT layperson [] xref: UMLS:C1855579 is_a: HP:0003552 ! Muscle stiffness [Term] id: HP:0008968 name: Muscle hypertrophy of the lower extremities def: "Muscle hypertrophy primarily affecting the legs." [HPO:curators] xref: UMLS:C1850663 is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs is_a: HP:0003712 ! Skeletal muscle hypertrophy [Term] id: HP:0008969 name: Leg muscle stiffness xref: UMLS:C4024610 is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs is_a: HP:0003552 ! Muscle stiffness [Term] id: HP:0008970 name: Scapulohumeral muscular dystrophy xref: MSH:C562932 xref: SNOMEDCT_US:240074006 xref: UMLS:C0410192 is_a: HP:0003560 ! Muscular dystrophy [Term] id: HP:0008972 name: Decreased activity of mitochondrial respiratory chain def: "Decreased activity of the mitochondrial respiratory chain." [HPO:probinson] synonym: "Decreased activities of mitochondrial-encoded respiratory chain complexes" RELATED [HPO:skoehler] synonym: "Decreased activity of mitochondrial respiratory complexes" RELATED [HPO:skoehler] xref: UMLS:C1835995 xref: UMLS:C3276441 xref: UMLS:C4024609 is_a: HP:0011922 ! Abnormal activity of mitochondrial respiratory chain [Term] id: HP:0008978 name: Necrotizing myopathy xref: UMLS:C4024608 is_a: HP:0003198 ! Myopathy [Term] id: HP:0008981 name: Calf muscle hypertrophy alt_id: HP:0003703 alt_id: HP:0009024 def: "Muscle hypertrophy affecting the calf muscles." [HPO:curators] comment: Distal lower limb hypertrophy synonym: "Calf hypertrophy" EXACT [] synonym: "Increased size of calf muscles" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Muscular hypertrophy of the calf muscles" EXACT [] xref: UMLS:C1843057 is_a: HP:0001430 ! Abnormality of the calf musculature is_a: HP:0008968 ! Muscle hypertrophy of the lower extremities [Term] id: HP:0008984 name: Neck muscle hypoplasia def: "Underdevelopment of muscles of the neck." [HPO:curators] synonym: "Decreased size of neck muscle" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Deficiency of neck muscle" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Hypotrophic neck muscle" RELATED [ORCID:0000-0001-5889-4463] synonym: "Small neck muscle" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of neck muscle" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1969000 xref: UMLS:C4280408 xref: UMLS:C4280409 is_a: HP:0000464 ! Abnormality of the neck is_a: HP:0009004 ! Hypoplasia of the musculature [Term] id: HP:0008985 name: Increased intramuscular fat def: "An abnormal increase in the amount of intramuscular fat tissue." [HPO:curators] synonym: "Increased IM fat" EXACT HP:0045077 [] synonym: "Increased intramuscular fat" EXACT layperson [] xref: UMLS:C1835389 is_a: HP:0009126 ! Increased adipose tissue is_a: HP:0011805 ! Abnormal muscle morphology [Term] id: HP:0008986 name: Agenesis of the diaphragm def: "Congenital lack, i.e., aplasia of the diaphragm." [HPO:probinson] comment: An extremely large diaphragmatic defect, or apparent absence of the hemidiaphragm, is called agenesis of the diaphragm; this defect probably represents the severe end of the Bochdalek hernia spectrum rather than a distinct entity. synonym: "Absent diaphragm" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Agenesis of diaphragm" RELATED [] xref: SNOMEDCT_US:702613006 xref: SNOMEDCT_US:72424001 xref: UMLS:C0221360 is_a: HP:0010315 ! Aplasia/Hypoplasia of the diaphragm [Term] id: HP:0008988 name: Pelvic girdle muscle atrophy alt_id: HP:0008992 def: "Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles)." [HPO:curators] synonym: "Pelvic girdle muscle wasting" EXACT [] xref: UMLS:C0240679 is_a: HP:0001445 ! Abnormality of the hip-girdle musculature is_a: HP:0001471 ! Aplasia/Hypoplasia of the musculature of the pelvis [Term] id: HP:0008991 name: Exercise-induced leg cramps def: "Sudden and involuntary contractions of one or more muscles of the leg brought on by physical exertion." [HPO:probinson] xref: UMLS:C4024607 is_a: HP:0003710 ! Exercise-induced muscle cramps [Term] id: HP:0008993 name: Increased intraabdominal fat def: "An abnormal increase in the amount of intraabdominal fat tissue." [HPO:curators] xref: UMLS:C1835390 is_a: HP:0009126 ! Increased adipose tissue [Term] id: HP:0008994 name: Proximal muscle weakness in lower limbs alt_id: HP:0002455 alt_id: HP:0008941 def: "A lack of strength of the proximal muscles of the legs." [HPO:probinson] synonym: "Muscle weakness, proximal, lower limbs" EXACT [] xref: UMLS:C1866010 is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs is_a: HP:0003690 ! Limb muscle weakness is_a: HP:0003701 ! Proximal muscle weakness [Term] id: HP:0008997 name: Proximal muscle weakness in upper limbs def: "A lack of strength of the proximal muscles of the arms." [HPO:probinson] xref: UMLS:C1866012 is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs is_a: HP:0003484 ! Upper limb muscle weakness is_a: HP:0003701 ! Proximal muscle weakness [Term] id: HP:0008998 name: Pectoralis hypoplasia def: "Underdevelopment of the pectoral muscle." [HPO:probinson] synonym: "Hypoplastic pectoral muscle" EXACT [] synonym: "Small pec muscle" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Underdeveloped pec muscle" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1846477 is_a: HP:0005258 ! Pectoral muscle hypoplasia/aplasia is_a: HP:0009004 ! Hypoplasia of the musculature [Term] id: HP:0009002 name: Loss of truncal subcutaneous adipose tissue alt_id: HP:0008989 def: "Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk." [HPO:probinson] synonym: "Loss of fat tissue in trunk" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Loss of subcutaneous truncal adipose tissue" EXACT [] synonym: "Loss of truncal adipose tissue" EXACT [] xref: UMLS:C1835384 is_a: HP:0008887 ! Adipose tissue loss [Term] id: HP:0009003 name: Increased subcutaneous truncal adipose tissue def: "The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body." [HPO:curators] synonym: "Increased fat below the skin in trunk" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1837781 is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue is_a: HP:0009126 ! Increased adipose tissue [Term] id: HP:0009004 name: Hypoplasia of the musculature alt_id: HP:0009034 def: "Underdevelopment of the musculature." [HPO:sdoelken] synonym: "Muscle hypoplasia" EXACT [] synonym: "Poorly developed skeletal musculature" EXACT layperson [] synonym: "Underdeveloped muscle" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:205530002 xref: UMLS:C0240414 is_a: HP:0001460 ! Aplasia/Hypoplasia involving the skeletal musculature [Term] id: HP:0009005 name: Weakness of the intrinsic hand muscles synonym: "Intrinsic hand muscles weakness" RELATED [] xref: UMLS:C1834536 is_a: HP:0001421 ! Abnormality of the musculature of the hand [Term] id: HP:0009007 name: Biceps hypoplasia def: "Underdevelopment of the biceps muscle." [HPO:curators] synonym: "Hypoplastic biceps" EXACT [] synonym: "Underdeveloped biceps" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1862499 is_a: HP:0009782 ! Aplasia/Hypoplasia of the biceps is_a: HP:0030239 ! Hypoplasia of the upper arm musculature [Term] id: HP:0009011 name: Hypoplasia of serratus anterior muscle def: "Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula." [HPO:curators] xref: UMLS:C1868167 is_a: HP:0009131 ! Abnormality of the musculature of the thorax [Term] id: HP:0009013 name: Congenital absence of gluteal muscles xref: MSH:C535561 xref: UMLS:C2930932 is_a: HP:0001443 ! Abnormality of the gluteal musculature is_a: HP:0001471 ! Aplasia/Hypoplasia of the musculature of the pelvis [Term] id: HP:0009016 name: Upper limb muscle hypoplasia def: "Underdevelopment of muscles of the arm." [HPO:curators] synonym: "Underdevelopment of upper limb muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1846478 is_a: HP:0001467 ! Aplasia/Hypoplasia involving the musculature of the upper limbs is_a: HP:0009004 ! Hypoplasia of the musculature [Term] id: HP:0009017 name: Loss of gluteal subcutaneous adipose tissue def: "Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region." [HPO:probinson] synonym: "Loss of fat tissue below the skin in gluts" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024606 is_a: HP:0008887 ! Adipose tissue loss [Term] id: HP:0009019 name: Progressive loss of facial adipose tissue synonym: "Atrophy of facial adipose tissue" EXACT [ORCID:0000-0001-5889-4463] synonym: "Facial fat atrophy" EXACT [ORCID:0000-0001-5889-4463] synonym: "Facial fat wasting" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Loss of subcutaneous adipose tissue from face, progressive" EXACT [] synonym: "Progressive loss of facial fat" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Progressive loss of facial subcutaneous adipose tissue" EXACT [ORCID:0000-0001-5889-4462] synonym: "Progressive loss of subcutaneous adipose tissue from face" EXACT [ORCID:0000-0001-5889-4461] xref: UMLS:C1837510 is_a: HP:0000292 ! Loss of facial adipose tissue [Term] id: HP:0009020 name: Exercise-induced muscle fatigue def: "An abnormally increased tendency towards muscle fatigue induced by physical exercise." [HPO:curators] xref: UMLS:C1855580 is_a: HP:0003750 ! Increased muscle fatiguability [Term] id: HP:0009023 name: Abdominal wall muscle weakness alt_id: HP:0001546 alt_id: HP:0004873 def: "Decreased strength of the abdominal musculature." [HPO:probinson] comment: This may be associated with protuberance of the abdomen. synonym: "Lax abdominal musculature" EXACT [] xref: UMLS:C4021527 is_a: HP:0001324 ! Muscle weakness is_a: HP:0010991 ! Abnormality of the abdominal musculature [Term] id: HP:0009025 name: Increased connective tissue def: "The presence of an abnormally increased amount of connective tissue." [HPO:curators] xref: UMLS:C1866021 is_a: HP:0003549 ! Abnormality of connective tissue [Term] id: HP:0009026 name: Hypoplasia of latissimus dorsi muscle def: "Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula." [HPO:curators] xref: UMLS:C3805860 is_a: HP:0009131 ! Abnormality of the musculature of the thorax [Term] id: HP:0009027 name: Foot dorsiflexor weakness alt_id: HP:0003377 def: "Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles." [HPO:probinson] comment: Dorsiflexion of the foot extends the foot superiorly, as if taking the foot off the gas pedal. synonym: "Foot drop" EXACT layperson [] synonym: "Foot extensor weakness" EXACT [] synonym: "Footdrop" EXACT [] xref: SNOMEDCT_US:6077001 xref: UMLS:C0085684 xref: UMLS:C1866141 is_a: HP:0001436 ! Abnormality of the foot musculature is_a: HP:0003690 ! Limb muscle weakness [Term] id: HP:0009028 name: Generalized weakness of limb muscles def: "Generalized weakness of the muscles of the arms and legs." [HPO:curators] xref: UMLS:C4024605 is_a: HP:0009127 ! Abnormality of the musculature of the limbs [Term] id: HP:0009031 name: Amyotrophy of ankle musculature def: "Atrophy of the muscles of the ankle." [HPO:probinson] xref: UMLS:C4024604 is_a: HP:0001436 ! Abnormality of the foot musculature [Term] id: HP:0009037 name: Segmental spinal muscular atrophy xref: MSH:C566670 xref: UMLS:C1866774 is_a: HP:0007269 ! Spinal muscular atrophy [Term] id: HP:0009042 name: Marked muscular hypertrophy def: "Severe hypertrophy (increase in size) of muscle cells." [HPO:curators] xref: UMLS:C1846013 is_a: HP:0003712 ! Skeletal muscle hypertrophy [Term] id: HP:0009044 name: obsolete Hypoplasia of deltoid muscle is_obsolete: true replaced_by: HP:0030241 [Term] id: HP:0009045 name: Exercise-induced rhabdomyolysis def: "Rhabdomyolysis induced by exercise." [HPO:probinson] synonym: "Rhabdomyolysis with exercise" EXACT [] xref: UMLS:C4021526 is_a: HP:0003201 ! Rhabdomyolysis [Term] id: HP:0009046 name: Difficulty running def: "Reduced ability to run." [HPO:probinson] synonym: "Difficulty running" EXACT layperson [] xref: SNOMEDCT_US:282479002 xref: UMLS:C0560346 is_a: HP:0004302 ! Functional motor deficit [Term] id: HP:0009049 name: Peroneal muscle atrophy alt_id: HP:0008939 alt_id: HP:0008982 def: "Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius)." [HPO:probinson] comment: The peroneus muscles (longus, brevis, and tertius) originate on the fibula and insert on the metatarsals. synonym: "Peroneal atrophy" EXACT [] xref: UMLS:C1389118 is_a: HP:0001430 ! Abnormality of the calf musculature is_a: HP:0003202 ! Skeletal muscle atrophy [Term] id: HP:0009050 name: Quadriceps muscle atrophy def: "Muscular atrophy involving the quadriceps muscle." [HPO:curators] synonym: "Wasting of quad muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024603 is_a: HP:0008956 ! Proximal lower limb amyotrophy [Term] id: HP:0009051 name: Increased muscle glycogen content def: "An increased amount of glycogen in muscle tissue." [HPO:probinson] xref: UMLS:C1968729 is_a: HP:0012269 ! Abnormal muscle glycogen content [Term] id: HP:0009053 name: Distal lower limb muscle weakness alt_id: HP:0003485 alt_id: HP:0009035 def: "Reduced strength of the distal musculature of the legs." [HPO:probinson] comment: This finding can be due to peripheral neuropathy. synonym: "Distal muscle weakness in lower limbs" EXACT [] synonym: "Muscle weakness, lower limb, distal" EXACT [] xref: UMLS:C1836450 is_a: HP:0002460 ! Distal muscle weakness is_a: HP:0002814 ! Abnormality of the lower limb is_a: HP:0007340 ! Lower limb muscle weakness [Term] id: HP:0009054 name: Scapuloperoneal myopathy xref: MSH:C536624 xref: UMLS:C2931268 is_a: HP:0001430 ! Abnormality of the calf musculature is_a: HP:0001465 ! Amyotrophy involving the shoulder musculature [Term] id: HP:0009055 name: Generalized limb muscle atrophy alt_id: HP:0003788 def: "Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations." [HPO:probinson] synonym: "Generalized muscle atrophy, proximal and distal" EXACT [] synonym: "Generalized muscle wasting" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1838114 is_a: HP:0003700 ! Generalized amyotrophy [Term] id: HP:0009056 name: Loss of subcutaneous adipose tissue from upper limbs synonym: "Loss of fat tissue below the skin from upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024602 is_a: HP:0003635 ! Loss of subcutaneous adipose tissue in limbs [Term] id: HP:0009058 name: Increased muscle lipid content alt_id: HP:0100949 def: "An abnormal accumulation of lipids in skeletal muscle." [HPO:probinson, pmid:20691590] comment: Increased neutral lipid content may be observed on muscle biopsies specimen with the specific staining of Sudan black or oil red O techniques by optic microscopy. synonym: "Fat accumulation in muscle fibers" EXACT layperson [] synonym: "Fat deposits in muscle fibers" EXACT layperson [] synonym: "Increased muscle lipid content" EXACT layperson [] synonym: "Lipid accumulation in skeletal muscle" EXACT layperson [] synonym: "Muscle lipidosis" EXACT [] synonym: "Skeletal muscle lipid accumulation" EXACT layperson [] xref: UMLS:C1837262 is_a: HP:0004303 ! Abnormal muscle fiber morphology [Term] id: HP:0009059 name: Congenital generalized lipodystrophy xref: MSH:D052497 xref: SNOMEDCT_US:284449005 xref: SNOMEDCT_US:86907008 xref: UMLS:C0221032 is_a: HP:0009125 ! Lipodystrophy [Term] id: HP:0009060 name: Scapular muscle atrophy def: "Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle." [HPO:curators] comment: Need to add new UBERON term for scapula muscle xref: UMLS:C3805969 is_a: HP:0001465 ! Amyotrophy involving the shoulder musculature [Term] id: HP:0009062 name: Infantile axial hypotonia def: "Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy." [HPO:curators] synonym: "Hypotonia, axial, in infancy" EXACT [] xref: UMLS:C3806604 is_a: HP:0008936 ! Muscular hypotonia of the trunk is_a: HP:0008947 ! Infantile muscular hypotonia [Term] id: HP:0009063 name: Progressive distal muscle weakness alt_id: HP:0008933 alt_id: HP:0009022 alt_id: HP:0009057 def: "Progressively reduced strength of the distal musculature." [HPO:curators] synonym: "Muscle weakness, distal, progressive" EXACT [] synonym: "Muscle weakness, progressive, distal" EXACT [] xref: UMLS:C1836609 is_a: HP:0002460 ! Distal muscle weakness [Term] id: HP:0009064 name: Generalized lipodystrophy alt_id: HP:0008966 def: "Generalized degenerative changes of the fat tissue." [HPO:curators] synonym: "Lipodystrophy, generalized" EXACT [] xref: MSH:D052497 xref: SNOMEDCT_US:284449005 xref: SNOMEDCT_US:86907008 xref: UMLS:C0221032 is_a: HP:0009125 ! Lipodystrophy [Term] id: HP:0009067 name: Progressive spinal muscular atrophy def: "Progressive spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem." [HPO:curators] synonym: "Progressive spinal muscle degeneration" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Progressive spinal muscle wasting" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4082951 is_a: HP:0007269 ! Spinal muscular atrophy [Term] id: HP:0009069 name: Lethal infantile mitochondrial myopathy xref: MSH:C564017 xref: UMLS:C1838876 is_a: HP:0003737 ! Mitochondrial myopathy [Term] id: HP:0009071 name: Inflammatory myopathy def: "Chronic muscle inflammation accompanied by muscle weakness." [PMID:19349710] xref: MSH:D009220 xref: SNOMEDCT_US:128496001 xref: SNOMEDCT_US:26889001 xref: UMLS:C0027121 is_a: HP:0003198 ! Myopathy [Term] id: HP:0009072 name: Decreased Achilles reflex def: "Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed." [HPO:probinson] synonym: "Hyporeflexia at ankle joints" EXACT [] xref: UMLS:C1837323 is_a: HP:0002600 ! Hyporeflexia of lower limbs [Term] id: HP:0009073 name: Progressive proximal muscle weakness alt_id: HP:0008965 def: "Lack of strength of the proximal muscles that becomes progressively more severe." [HPO:probinson] comment: Removed logical definition that used anonymous class. Outstanding term request in UBERON for proximal muscle organ. synonym: "Muscle weakness, progressive, proximal" EXACT [] xref: UMLS:C1836156 is_a: HP:0003323 ! Progressive muscle weakness is_a: HP:0003701 ! Proximal muscle weakness [Term] id: HP:0009077 name: Weakness of long finger extensor muscles xref: UMLS:C4024601 is_a: HP:0030237 ! Hand muscle weakness [Term] id: HP:0009084 name: Midline notch of upper alveolar ridge synonym: "Midline cleft of maxillary alveolar process" EXACT [ORCID:0000-0001-5889-4463] synonym: "Midline cleft of upper alveolar ridge" EXACT [ORCID:0000-0001-5889-4463] synonym: "Midline notch of maxillary alveolar process" EXACT [ORCID:0000-0001-5889-4463] synonym: "Midline notch of maxillary alveolar ridge" EXACT [ORCID:0000-0001-5889-4463] synonym: "Midline notch of upper gum ridge" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1851853 is_a: HP:0006477 ! Abnormality of the alveolar ridges [Term] id: HP:0009085 name: Alveolar ridge overgrowth alt_id: HP:0009078 alt_id: HP:0009083 def: "Increased width of the alveolar ridges." [pmid:19125428] comment: This finding may or may not be accompanied by increased height of the alveolar ridge. This is not to be confused with Prominent palatal ridges or gingival overgrowth. This distinction of gingival from alveolar ridge overgrowth may be difficult, especially in milder degrees of the finding. subset: hposlim_core synonym: "Alveolar ridge excess" EXACT [ORCID:0000-0001-5889-4463] synonym: "Enlarged alveolar ridge" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hyperplasia of alveolar process of jaw" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hyperplasia of alveolar ridge" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypertrophied alveolar ridge" RELATED [] synonym: "Increased size of alveolar ridge" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased size of gum ridge" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Overgrowth of alveolar ridge" EXACT [] synonym: "Overgrowth of gum ridge" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Thick alveolar ridges" EXACT [] synonym: "Thickened alveolar ridges" EXACT [] xref: UMLS:C1856164 xref: UMLS:C1865598 is_a: HP:0006477 ! Abnormality of the alveolar ridges [Term] id: HP:0009087 name: Posteriorly placed tongue synonym: "Posteriorly placed tongue" EXACT layperson [] xref: UMLS:C4024600 is_a: HP:0030809 ! Abnormal tongue morphology [Term] id: HP:0009088 name: Speech articulation difficulties def: "Impairment in the physical production of speech sounds." [HPO:probinson] comment: Speech articulation difficulties can result from abnormalities of the vocal tract (the larynx and the pharyngeal, oral, and nasal cavities). xref: UMLS:C1865313 is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0009090 name: obsolete Facial diplegic appearance is_obsolete: true consider: HP:0001349 [Term] id: HP:0009092 name: Progressive alveolar ridge hypertropy synonym: "Increasing overgrowth of gum ridge" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Increasing size of gum ridge" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Progressive hypertrophy of alveolar process of jaw" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1854934 xref: UMLS:C4280407 is_a: HP:0006477 ! Abnormality of the alveolar ridges [Term] id: HP:0009094 name: Cleft lower alveolar ridge synonym: "Cleft of lower alveolar process" NARROW [ORCID:0000-0001-5889-4463] synonym: "Cleft of lower gingiva" NARROW [ORCID:0000-0001-5889-4463] synonym: "Cleft of lower gum ridge" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Cleft of mandibular alveolar process" NARROW [ORCID:0000-0001-5889-4463] synonym: "Cleft of mandibular gingiva" NARROW [ORCID:0000-0001-5889-4463] synonym: "Notch of lower alveolar process" NARROW [ORCID:0000-0001-5889-4463] synonym: "Notch of lower alveolar ridge" EXACT [ORCID:0000-0001-5889-4463] synonym: "Notch of lower gum ridge" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Notch of mandibular alveolar process" NARROW [ORCID:0000-0001-5889-4463] synonym: "Notch of mandibular alveolar ridge" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1849350 xref: UMLS:C4280404 xref: UMLS:C4280405 xref: UMLS:C4280406 is_a: HP:0010289 ! Cleft of alveolar ridge of maxilla [Term] id: HP:0009098 name: Chronic oral candidiasis def: "Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx." [] synonym: "Chronic oral thrush" EXACT layperson [ORCID:0000-0002-0736-9199] xref: UMLS:C4024599 is_a: HP:0002728 ! Chronic mucocutaneous candidiasis [Term] id: HP:0009099 name: Median cleft palate def: "Cleft palate of the midline of the palate." [HPO:probinson] synonym: "Central cleft palate" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Midline cleft palate" EXACT layperson [] xref: UMLS:C1850968 is_a: HP:0000175 ! Cleft palate [Term] id: HP:0009100 name: Thick anterior alveolar ridges synonym: "Thick anterior alveolar process of jaw" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1859377 is_a: HP:0009085 ! Alveolar ridge overgrowth [Term] id: HP:0009101 name: Submucous cleft lip def: "A cleft of the lip with overlying mucous membrane." [HPO:probinson] comment: Submucous cleft lip may lead to increased nasal resonance. synonym: "Submucous labial cleft" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1839277 is_a: HP:0000204 ! Cleft upper lip [Term] id: HP:0009102 name: Anterior open-bite malocclusion def: "A type of malocclusion in which there is a gap between the anterior teeth (incisors)." [HPO:ibailleulforestier] synonym: "Absence of overlap of anterior upper and lower teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Anterior open bite between upper and lower teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Anterior openbite" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "AOB" EXACT HP:0045077 [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Apertognathia malocclusion" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Gap between upper and lower front teeth when biting" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4024598 is_a: HP:0000689 ! Dental malocclusion [Term] id: HP:0009103 name: Aplasia/Hypoplasia involving the pelvis synonym: "Absent/small pelvis" EXACT [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped pelvis" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4024597 is_a: HP:0002644 ! Abnormality of pelvic girdle bone morphology created_by: peter creation_date: 2008-04-04T08:40:00Z [Term] id: HP:0009104 name: Aplasia/Hypoplasia of the pubic bone alt_id: HP:0008841 def: "Absence or underdevelopment of the pubic bone." [HPO:probinson] synonym: "Absent/small pubic bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped pubic bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hypoplastic/aplastic pubic bones" EXACT layperson [] xref: UMLS:C1849305 is_a: HP:0003172 ! Abnormality of the pubic bone is_a: HP:0009103 ! Aplasia/Hypoplasia involving the pelvis created_by: peter creation_date: 2008-04-04T08:41:00Z [Term] id: HP:0009105 name: Abnormal ossification of the pubic bone def: "Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis." [HPO:probinson] synonym: "Abnormal maturation of the pubic bone" RELATED layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024596 xref: UMLS:C4280403 is_a: HP:0003172 ! Abnormality of the pubic bone is_a: HP:0009106 ! Abnormal pelvis bone ossification created_by: peter creation_date: 2008-04-04T08:41:00Z [Term] id: HP:0009106 name: Abnormal pelvis bone ossification def: "An abnormality of the formation and mineralization of any bone of the bony pelvis." [HPO:probinson] synonym: "Abnormal maturation of the pelvis bone" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormal ossification involving the bones of the pelvis" EXACT [] xref: UMLS:C4021525 xref: UMLS:C4280402 is_a: HP:0002644 ! Abnormality of pelvic girdle bone morphology is_a: HP:0003336 ! Abnormal enchondral ossification created_by: peter creation_date: 2008-04-04T08:42:00Z [Term] id: HP:0009107 name: Abnormal ossification involving the femoral head and neck synonym: "Abnormal maturation of thigh bone head and neck" RELATED layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024595 is_a: HP:0003336 ! Abnormal enchondral ossification is_a: HP:0003366 ! Abnormality of the femoral neck or head region created_by: peter creation_date: 2008-04-04T08:42:00Z [Term] id: HP:0009108 name: Aplasia/Hypoplasia involving the femoral head and neck synonym: "Absent/small head and neck of thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped head and neck of thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024594 is_a: HP:0003366 ! Abnormality of the femoral neck or head region is_a: HP:0005613 ! Aplasia/hypoplasia of the femur is_a: HP:0009103 ! Aplasia/Hypoplasia involving the pelvis created_by: peter creation_date: 2008-04-04T08:44:00Z [Term] id: HP:0009109 name: Denervation of the diaphragm def: "Interruption of the innervation of the diaphragm." [HPO:probinson] xref: UMLS:C1858529 is_a: HP:0000775 ! Abnormality of the diaphragm created_by: peter creation_date: 2008-04-05T10:41:00Z [Term] id: HP:0009110 name: Diaphragmatic eventration alt_id: HP:0009114 def: "A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development." [HPO:curators] synonym: "Eventration of the diaphragm" RELATED [] xref: MSH:D003965 xref: SNOMEDCT_US:34168003 xref: UMLS:C0011981 is_a: HP:0000775 ! Abnormality of the diaphragm created_by: peter creation_date: 2008-04-05T10:42:00Z [Term] id: HP:0009112 name: Absent left hemidiaphragm def: "Congenital absence of the left half of the diaphragm." [HPO:probinson] xref: UMLS:C4024593 is_a: HP:0040048 ! Aplasia of the left hemidiaphragm created_by: peter creation_date: 2008-04-05T10:43:00Z [Term] id: HP:0009113 name: Diaphragmatic weakness alt_id: HP:0005953 alt_id: HP:0009111 def: "A decrease in the strength of the diaphragm." [HPO:probinson, pmid:2509822] comment: Diaphragmatic paralysis is an extreme form of diaphragmatic weakness. Weakness of the diaphragm can result from abnormalities at any site along its neuromuscular axis, although it most frequently arises from diseases in the phrenic nerves or from myopathies affecting the diaphragm itself. Presence of diaphragmatic weakness may be suspected from the complaint of dyspnea (particularly on exertion) or orthopnea; or the presence of rapid, shallow breathing or, more importantly, paradoxical inward motion of the abdomen during inspiration on physical examination. synonym: "Diaphragmatic paraparesis" EXACT [] synonym: "Diminished diaphragmatic motion" RELATED [] synonym: "Weak diaphragm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:95438009 xref: UMLS:C0521532 xref: UMLS:C4020786 is_a: HP:0000775 ! Abnormality of the diaphragm is_a: HP:0001324 ! Muscle weakness created_by: peter creation_date: 2008-04-05T10:43:00Z [Term] id: HP:0009115 name: Aplasia/hypoplasia involving the skeleton def: "Absence (due to failure to form) or underdevelopment of one or more components of the skeleton." [HPO:probinson] synonym: "Absent/small skeleton" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped skeleton" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024592 is_a: HP:0011842 ! Abnormality of skeletal morphology created_by: peter creation_date: 2008-04-05T10:53:00Z [Term] id: HP:0009116 name: Aplasia/Hypoplasia involving bones of the skull xref: UMLS:C4024591 is_a: HP:0000929 ! Abnormal skull morphology is_a: HP:0009122 ! Aplasia/hypoplasia affecting bones of the axial skeleton created_by: peter creation_date: 2008-04-05T10:53:00Z [Term] id: HP:0009117 name: Aplasia/Hypoplasia of the maxilla def: "Absence or underdevelopment of the Maxilla." [HPO:probinson] synonym: "Underdevelopment of maxilla" EXACT [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of upper jaw bones" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4024590 is_a: HP:0000326 ! Abnormality of the maxilla is_a: HP:0009116 ! Aplasia/Hypoplasia involving bones of the skull created_by: peter creation_date: 2008-04-05T10:57:00Z [Term] id: HP:0009118 name: Aplasia/Hypoplasia of the mandible def: "Absence or underdevelopment of the mandible." [HPO:probinson] xref: MSH:D063173 xref: UMLS:C3494426 xref: UMLS:C4021371 xref: UMLS:C4024589 xref: UMLS:C4280261 xref: UMLS:C4280401 is_a: HP:0000277 ! Abnormality of the mandible is_a: HP:0009116 ! Aplasia/Hypoplasia involving bones of the skull creation_date: 2008-04-05T10:57:00Z [Term] id: HP:0009119 name: Aplasia/Hypoplasia of the frontal sinuses def: "Absence or underdevelopment of frontal sinus." [HPO:probinson] synonym: "Abnormally small frontal sinus" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4024588 is_a: HP:0002687 ! Abnormality of frontal sinus is_a: HP:0009120 ! Aplasia/Hypoplasia involving the sinuses created_by: peter creation_date: 2008-04-05T11:00:00Z [Term] id: HP:0009120 name: Aplasia/Hypoplasia involving the sinuses def: "Absence or underdevelopment of a cranial sinus or sinuses." [HPO:curators] xref: UMLS:C4024587 is_a: HP:0000245 ! Abnormality of the paranasal sinuses is_a: HP:0009116 ! Aplasia/Hypoplasia involving bones of the skull created_by: peter creation_date: 2008-04-05T11:01:00Z [Term] id: HP:0009121 name: Abnormal axial skeleton morphology def: "An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum." [HPO:probinson] synonym: "Abnormality of the axial skeleton" RELATED [] xref: UMLS:C4020785 xref: UMLS:C4024586 is_a: HP:0011842 ! Abnormality of skeletal morphology created_by: peter creation_date: 2008-04-05T11:16:00Z [Term] id: HP:0009122 name: Aplasia/hypoplasia affecting bones of the axial skeleton def: "Absence (due to failure to form) or underdevelopment of bones of the axial skeleton." [HPO:probinson] xref: UMLS:C4024585 is_a: HP:0009115 ! Aplasia/hypoplasia involving the skeleton is_a: HP:0009121 ! Abnormal axial skeleton morphology created_by: peter creation_date: 2008-04-05T11:29:00Z [Term] id: HP:0009123 name: Mixed hypo- and hyperpigmentation of the skin xref: UMLS:C4024584 is_a: HP:0000953 ! Hyperpigmentation of the skin is_a: HP:0001010 ! Hypopigmentation of the skin created_by: peter creation_date: 2008-04-05T11:36:00Z [Term] id: HP:0009124 name: Abnormal adipose tissue morphology def: "An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes." [HPO:curators] synonym: "Abnormality of adipose tissue" EXACT layperson [] synonym: "Abnormality of fat tissue" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of fatty tissue" EXACT layperson [] xref: UMLS:C4021524 is_a: HP:0003549 ! Abnormality of connective tissue created_by: peter creation_date: 2008-04-05T11:40:00Z [Term] id: HP:0009125 name: Lipodystrophy def: "Degenerative changes of the fat tissue." [HPO:curators] synonym: "Inability to make and keep healthy fat tissue" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MSH:D008060 xref: SNOMEDCT_US:71325002 xref: UMLS:C0023787 is_a: HP:0009124 ! Abnormal adipose tissue morphology created_by: peter creation_date: 2008-04-05T11:40:00Z [Term] id: HP:0009126 name: Increased adipose tissue def: "An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell)." [HPO:curators] synonym: "Increased adipose tissue" EXACT layperson [] synonym: "Increased fat tissue" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024583 is_a: HP:0009025 ! Increased connective tissue is_a: HP:0009124 ! Abnormal adipose tissue morphology created_by: peter creation_date: 2008-04-05T11:43:00Z [Term] id: HP:0009127 name: Abnormality of the musculature of the limbs synonym: "Abnormal limb muscles" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Muscle issues in the arms and/or legs" EXACT layperson [] xref: UMLS:C4024582 is_a: HP:0003011 ! Abnormality of the musculature is_a: HP:0040064 ! Abnormality of limbs created_by: peter creation_date: 2008-04-07T02:00:00Z [Term] id: HP:0009128 name: Aplasia/Hypoplasia involving the musculature of the extremities synonym: "Absent/small muscles of extremities" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped muscles of extremities" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024581 is_a: HP:0001460 ! Aplasia/Hypoplasia involving the skeletal musculature is_a: HP:0009127 ! Abnormality of the musculature of the limbs created_by: peter creation_date: 2008-04-07T02:01:00Z [Term] id: HP:0009129 name: Upper limb amyotrophy alt_id: HP:0003471 def: "Muscular atrophy involving the muscles of the upper limbs." [HPO:probinson] synonym: "Amyotrophy involving the upper limbs" EXACT [] xref: UMLS:C4021523 is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs is_a: HP:0003202 ! Skeletal muscle atrophy created_by: peter creation_date: 2008-04-07T05:01:00Z [Term] id: HP:0009130 name: Hand muscle atrophy alt_id: HP:0006967 alt_id: HP:0008934 alt_id: HP:0008951 alt_id: HP:0009038 def: "Muscular atrophy involving the muscles of the hand." [HPO:curators] comment: This term can be used to described bilateral amyotrophy of the musculature of the hand. synonym: "Amyotrophy involving the musculature of the hand" EXACT [] synonym: "Amyotrophy of hand muscles" EXACT [] synonym: "Hand muscle degeneration" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hand muscle wasting" EXACT [] synonym: "Hand muscle wasting, bilateral" EXACT [] xref: UMLS:C0239830 is_a: HP:0001421 ! Abnormality of the musculature of the hand is_a: HP:0007149 ! Distal upper limb amyotrophy created_by: peter creation_date: 2008-04-07T05:01:00Z [Term] id: HP:0009131 name: Abnormality of the musculature of the thorax def: "A disease or lesion affecting the muscles of the thorax." [HPO:curators] xref: UMLS:C4024580 is_a: HP:0003011 ! Abnormality of the musculature created_by: peter creation_date: 2008-04-07T05:06:00Z [Term] id: HP:0009132 name: Abnormal tarsal bone mineral density def: "This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone." [HPO:probinson] synonym: "Abnormality of bone mineral density involving tarsal bones" EXACT [] xref: UMLS:C4021522 is_a: HP:0001850 ! Abnormality of the tarsal bones is_a: HP:0004348 ! Abnormality of bone mineral density created_by: peter creation_date: 2008-04-17T02:39:00Z [Term] id: HP:0009134 name: Osteolysis involving bones of the feet xref: UMLS:C4024579 is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0009139 ! Osteolysis involving bones of the lower limbs created_by: peter creation_date: 2008-04-17T02:43:00Z [Term] id: HP:0009136 name: Duplication involving bones of the feet synonym: "Duplication involving bones of the feet" EXACT layperson [] xref: UMLS:C4024578 is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0040069 ! Abnormal lower limb bone morphology created_by: peter creation_date: 2008-04-17T02:45:00Z [Term] id: HP:0009138 name: Synostosis involving bones of the lower limbs def: "An abnormal union between bones or parts of bones lower limbs." [HPO:sdoelken] synonym: "Fusion involving the bones of the lower limbs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024577 is_a: HP:0040069 ! Abnormal lower limb bone morphology is_a: HP:0100240 ! Synostosis of joints is_a: HP:0100491 ! Abnormality of lower limb joint created_by: peter creation_date: 2008-04-17T02:51:00Z [Term] id: HP:0009139 name: Osteolysis involving bones of the lower limbs xref: UMLS:C4024576 is_a: HP:0002797 ! Osteolysis is_a: HP:0040069 ! Abnormal lower limb bone morphology created_by: peter creation_date: 2008-04-17T02:52:00Z [Term] id: HP:0009140 name: Synostosis involving bones of the feet synonym: "Fusion involving the bones of the feet" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024575 is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0009138 ! Synostosis involving bones of the lower limbs created_by: peter creation_date: 2008-04-17T02:54:00Z [Term] id: HP:0009141 name: Depletion of mitochondrial DNA in muscle tissue alt_id: HP:0009070 synonym: "Depletion of mitochondrial dna in skeletal muscle tissue" EXACT [] xref: UMLS:C4021521 is_a: HP:0003800 ! Muscle abnormality related to mitochondrial dysfunction created_by: peter creation_date: 2008-05-02T12:00:00Z [Term] id: HP:0009142 name: Duplication of bones involving the upper extremities synonym: "Duplication of bones involving the upper extremities" EXACT layperson [] xref: UMLS:C4024574 is_a: HP:0002817 ! Abnormality of the upper limb created_by: peter creation_date: 2008-05-02T01:23:00Z [Term] id: HP:0009144 name: Supernumerary bones of the axial skeleton xref: UMLS:C4024573 is_a: HP:0009121 ! Abnormal axial skeleton morphology created_by: peter creation_date: 2008-05-02T01:29:00Z [Term] id: HP:0009145 name: Abnormal cerebral artery morphology def: "Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery." [HPO:probinson] synonym: "Abnormality of cerebral artery" EXACT layperson [] synonym: "Abnormality of the cerebral arteries" EXACT layperson [] xref: UMLS:C4021520 is_a: HP:0011004 ! Abnormal systemic arterial morphology is_a: HP:0100659 ! Abnormality of the cerebral vasculature created_by: peter creation_date: 2008-05-02T01:39:00Z [Term] id: HP:0009147 name: Enlarged epiphysis of the distal phalanx of the 5th finger def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms." [HPO:curators] synonym: "Enlarged end part of the outermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Enlarged end part of the outermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Enlarged end part of the outermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024572 is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009385 ! Enlarged epiphyses of the 5th finger is_a: HP:0010249 ! Enlarged epiphyses of the distal phalanges of the hand created_by: peter creation_date: 2008-12-22T01:39:32Z [Term] id: HP:0009148 name: Small epiphysis of the distal phalanx of the 5th finger def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms." [HPO:curators] synonym: "Small end part of the outermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Small end part of the outermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Small end part of the outermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024571 is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009390 ! Small epiphyses of the 5th finger is_a: HP:0010254 ! Small epiphyses of the distal phalanges of the hand created_by: peter creation_date: 2008-12-22T01:40:08Z [Term] id: HP:0009149 name: Triangular epiphysis of the distal phalanx of the 5th finger alt_id: HP:0009137 def: "A triangular appearance of the epiphysis of the distal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the distal phalanx of the 5th finger" EXACT [] synonym: "Triangular end part of the outermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular end part of the outermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular end part of the outermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021519 is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009392 ! Triangular epiphyses of the 5th finger is_a: HP:0010256 ! Triangular epiphyses of the distal phalanges of the hand created_by: peter creation_date: 2008-12-22T01:40:48Z [Term] id: HP:0009150 name: Abnormality of the proximal phalanx of the 5th finger def: "Abnormality of the proximal phalanx of the little (5th) finger." [HPO:curators] synonym: "Abnormality of the innermost bone little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the innermost bone pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the innermost bone pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024570 is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology created_by: peter creation_date: 2008-12-22T02:00:20Z [Term] id: HP:0009152 name: Abnormality of the epiphyses of the 5th finger def: "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger." [HPO:sdoelken] synonym: "Abnormality of end part of little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of end part of pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of end part of pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024569 is_a: HP:0004207 ! Abnormal 5th finger morphology is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand created_by: peter creation_date: 2008-12-22T02:07:27Z [Term] id: HP:0009153 name: Abnormality of the epiphysis of the proximal phalanx of the 5th finger def: "Abnormality of the epiphysis of the proximal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx." [HPO:curator] synonym: "Abnormality of end part of the innermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of end part of the innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of end part of the innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024568 is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand created_by: peter creation_date: 2008-12-22T05:47:42Z [Term] id: HP:0009154 name: Triangular epiphysis of the proximal phalanx of the 5th finger alt_id: HP:0009156 def: "A triangular appearance of the epiphysis of the proximal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the proximal phalanx of the 5th finger" EXACT layperson [] synonym: "Triangular end part of the innermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular end part of the innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular end part of the innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021518 is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009392 ! Triangular epiphyses of the 5th finger is_a: HP:0010278 ! Triangular epiphyses of the proximal phalanges of the hand created_by: peter creation_date: 2008-12-22T05:50:39Z [Term] id: HP:0009155 name: Cone-shaped epiphysis of the proximal phalanx of the 5th finger def: "A cone-shaped appearance of the epiphysis of the proximal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] synonym: "Angel-shaped epiphysis of the proximal phalanx of the 5th finger" RELATED [] synonym: "Cone-shaped end part of the innermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cone-shaped end part of the innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cone-shaped end part of the innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cone-shaped epiphysis of the proximal phalanx of the little finger" RELATED [] xref: UMLS:C4020783 xref: UMLS:C4020784 is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009384 ! Cone-shaped epiphyses of the 5th finger is_a: HP:0010270 ! Cone-shaped epiphyses of the proximal phalanges of the hand created_by: peter creation_date: 2008-12-22T05:50:39Z [Term] id: HP:0009157 name: Ivory epiphysis of the proximal phalanx of the 5th finger def: "Sclerosis of the epiphysis of the proximal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] synonym: "Increased bone density of end part of the innermost bone of little finger" EXACT [ORCID:0000-0001-5208-3432] synonym: "Increased bone density of end part of the innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased bone density of end part of the innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Ivory epiphysis of the proximal phalanx of the little finger" RELATED layperson [] xref: UMLS:C4020782 xref: UMLS:C4024567 is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009388 ! Ivory epiphyses of the 5th finger is_a: HP:0010274 ! Ivory epiphyses of the proximal phalanges of the hand created_by: peter creation_date: 2008-12-22T05:50:39Z [Term] id: HP:0009158 name: Enlarged epiphysis of the proximal phalanx of the 5th finger def: "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms." [HPO:curators] synonym: "Enlarged end part of the innermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Enlarged end part of the innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Enlarged end part of the innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024566 is_a: HP:0009385 ! Enlarged epiphyses of the 5th finger created_by: peter creation_date: 2008-12-22T05:50:39Z [Term] id: HP:0009159 name: Small epiphysis of the proximal phalanx of the 5th finger def: "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms." [HPO:curators] synonym: "Small end part of the innermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Small end part of the innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Small end part of the innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024565 is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009390 ! Small epiphyses of the 5th finger is_a: HP:0010276 ! Small epiphyses of the proximal phalanges of the hand created_by: peter creation_date: 2008-12-22T05:50:39Z [Term] id: HP:0009160 name: Absent epiphysis of the proximal phalanx of the 5th finger def: "Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger." [HPO:curators] synonym: "Absent end part of the innermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent end part of the innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent end part of the innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024564 is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009382 ! Absent epiphyses of the 5th finger is_a: HP:0010268 ! Absent epiphyses of the proximal phalanges of the hand created_by: peter creation_date: 2008-12-22T05:50:39Z [Term] id: HP:0009161 name: Aplasia/Hypoplasia of the middle phalanx of the 5th finger alt_id: HP:0006242 def: "Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger." [HPO:curators] synonym: "Absent/hypoplastic middle phalanx of 5th finger" EXACT [] synonym: "Absent/small middle bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped middle bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped middle bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped middle bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1834034 is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009376 ! Aplasia/Hypoplasia of the phalanges of the 5th finger created_by: peter creation_date: 2008-12-22T05:55:56Z [Term] id: HP:0009162 name: Absent middle phalanx of 5th finger alt_id: HP:0005774 def: "Absence of the middle phalanx of the little (5th) finger." [HPO:curators] synonym: "Absent middle bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent middle bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent middle bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia of the middle phalanx of the 5th finger" EXACT [] xref: UMLS:C3277750 is_a: HP:0009161 ! Aplasia/Hypoplasia of the middle phalanx of the 5th finger is_a: HP:0009238 ! Aplasia of the 5th finger is_a: HP:0010239 ! Aplasia of the middle phalanx of the hand created_by: peter creation_date: 2008-12-22T06:08:40Z [Term] id: HP:0009163 name: obsolete Abnormal form of the 5th finger is_obsolete: true consider: HP:0004207 [Term] id: HP:0009164 name: Abnormal calcification of the carpal bones alt_id: HP:0006154 synonym: "Abnormal calcification of the wrist bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Carpal calcifications" EXACT [] xref: UMLS:C1968592 is_a: HP:0006257 ! Abnormality of carpal bone ossification is_a: HP:0010766 ! Ectopic calcification created_by: peter creation_date: 2008-12-22T06:53:39Z [Term] id: HP:0009165 name: Stippling of the epiphysis of the distal phalanx of the 5th finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger." [HPO:curators] synonym: "Speckled calcifications in end part of the outermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Speckled calcifications in end part of the outermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Speckled calcifications in end part of the outermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024563 is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009391 ! Stippling of the epiphyses of the 5th finger is_a: HP:0010255 ! Stippling of the epiphyses of the distal phalanges of the hand created_by: peter creation_date: 2008-12-29T02:07:42Z [Term] id: HP:0009166 name: Fragmentation of the epiphysis of the distal phalanx of the 5th finger def: "Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger." [HPO:curators] synonym: "Fragmentation of end part of the outermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fragmentation of end part of the outermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fragmentation of end part of the outermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024562 is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009386 ! Fragmentation of the epiphyses of the 5th finger is_a: HP:0010250 ! Fragmentation of the epiphyses of the distal phalanges of the hand created_by: peter creation_date: 2008-12-29T02:14:33Z [Term] id: HP:0009167 name: Irregular epiphysis of the distal phalanx of the 5th finger def: "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger." [HPO:curators] synonym: "Irregular end part of the outermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Irregular end part of the outermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Irregular end part of the outermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024561 is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009387 ! Irregular epiphyses of the 5th finger is_a: HP:0010251 ! Irregular epiphyses of the distal phalanges of the hand created_by: peter creation_date: 2008-12-29T02:18:06Z [Term] id: HP:0009168 name: Bullet-shaped middle phalanx of the 5th finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 5th finger is affected." [HPO:curators] synonym: "Bullet-shaped middle little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bullet-shaped middle pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bullet-shaped middle pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024560 is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009375 ! Bullet-shaped phalanges of the 5th finger is_a: HP:0009845 ! Bullet-shaped middle phalanges of the hand created_by: peter creation_date: 2008-12-29T02:44:53Z [Term] id: HP:0009169 name: Broad middle phalanx of the 5th finger def: "Increased width of the middle phalanx of the 5th finger." [HPO:curators] synonym: "Broad middle bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Broad middle bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Broad middle bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide middle phalanx of the 5th finger" EXACT [] xref: UMLS:C4021517 is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009374 ! Broad phalanges of the 5th finger is_a: HP:0009844 ! Broad middle phalanx of finger created_by: peter creation_date: 2008-12-29T02:49:04Z [Term] id: HP:0009170 name: Osteolytic defects of the middle phalanx of the 5th finger def: "Dissolution or degeneration of bone tissue of the middle phalanx of the 5th finger." [HPO:curators] xref: UMLS:C4024559 is_a: HP:0004216 ! Osteolytic defects of the phalanges of the 5th finger is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009847 ! Osteolytic defects of the middle phalanges of the hand created_by: peter creation_date: 2008-12-29T02:51:32Z [Term] id: HP:0009171 name: Triangular epiphyses of the metacarpals def: "A triangular appearance of the epiphyses of the metacarpals. Thess epiphyses are located at the distal end of the metacarpals." [HPO:curators] synonym: "Triangular end part of the long bone of hand" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4024558 is_a: HP:0005913 ! Abnormality of metacarpal epiphyses is_a: HP:0010587 ! Triangular epiphyses created_by: doelkens creation_date: 2008-12-30T02:03:34Z [Term] id: HP:0009172 name: Abnormal 4th finger phalanx morphology alt_id: HP:0004191 def: "Abnormality of the phalanges of the 4th (ring) finger." [HPO:curators] synonym: "Abnormal bones of 4th finger" EXACT layperson [] synonym: "Abnormality of the phalanges of the ring finger" EXACT [] xref: UMLS:C4021516 is_a: HP:0004188 ! Abnormal 4th finger morphology is_a: HP:0005918 ! Abnormal finger phalanx morphology created_by: doelkens creation_date: 2009-01-05T04:18:24Z [Term] id: HP:0009173 name: Curved middle phalanx of the 5th finger def: "Curved appearance of the middle phalanx of the 5th finger." [HPO:curators] synonym: "Curved middle bone of little finger" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Curved middle bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Curved middle bone of pinky finger" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4024557 is_a: HP:0004214 ! Curved phalanges of the 5th finger is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009846 ! Curved middle phalanges of the hand created_by: peter creation_date: 2008-12-29T03:05:04Z [Term] id: HP:0009174 name: Abnormality of the epiphyses of the 4th finger def: "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger." [HPO:curators] synonym: "Abnormality of the end part of the ring finger" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4024556 is_a: HP:0004188 ! Abnormal 4th finger morphology is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand created_by: doelkens creation_date: 2009-01-05T04:23:43Z [Term] id: HP:0009175 name: Patchy sclerosis of the middle phalanx of the 5th finger def: "Patchy increase in bone density of the middle phalanx of the 5th finger." [HPO:curators] synonym: "Uneven increase in bone density in the middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Uneven increase in bone density in the middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Uneven increase in bone density in the middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024555 is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009377 ! Patchy sclerosis of 5th finger phalanx is_a: HP:0009848 ! Patchy sclerosis of middle phalanx of finger is_a: HP:0100907 ! Sclerosis of the middle phalanx of the 5th finger created_by: peter creation_date: 2008-12-29T03:10:34Z [Term] id: HP:0009177 name: Proximal/middle symphalangism of 5th finger alt_id: HP:0005835 alt_id: HP:0006025 alt_id: HP:0009235 def: "Fusion of the proximal and middle phalanges of the 5th finger." [HPO:curators] synonym: "Fifth finger symphalangism" EXACT [] synonym: "Fused innermost and middle bones of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fused innermost and middle bones of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fused innermost and middle bones of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Proximal 5th finger symphalangism" EXACT [] synonym: "Proximal fifth finger symphalangism" EXACT [] synonym: "Symphalangism of the proximal and middle phalanges of the 5th finger" EXACT [] xref: UMLS:C1836212 is_a: HP:0006152 ! Proximal symphalangism of hands is_a: HP:0009178 ! Symphalangism of middle phalanx of 5th finger is_a: HP:0009232 ! Symphalangism affecting the proximal phalanx of the 5th finger created_by: peter creation_date: 2008-12-29T03:17:08Z [Term] id: HP:0009178 name: Symphalangism of middle phalanx of 5th finger def: "Fusion of the middle phalanx of the 5th finger with another bone." [HPO:curator] synonym: "Fused middle bones of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fused middle bones of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fused middle bones of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024554 is_a: HP:0004218 ! Symphalangism of the 5th finger is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009849 ! Symphalangism of middle phalanx of finger created_by: peter creation_date: 2008-12-29T03:17:43Z [Term] id: HP:0009179 name: Deviation of the 5th finger alt_id: HP:0006036 def: "Displacement of the 5th finger from its normal position." [HPO:sdoelken] synonym: "Displaced little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Displaced pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Displaced pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Laterally displaced fifth finger" EXACT [] xref: UMLS:C4021515 is_a: HP:0004097 ! Deviation of finger is_a: HP:0004207 ! Abnormal 5th finger morphology created_by: peter creation_date: 2008-12-29T03:29:20Z [Term] id: HP:0009180 name: Ulnar deviation of the 5th finger def: "Displacement of the 5th finger towards the ulnar side." [HPO:sdoelken] xref: UMLS:C4024553 is_a: HP:0009179 ! Deviation of the 5th finger is_a: HP:0009465 ! Ulnar deviation of finger created_by: peter creation_date: 2008-12-29T03:30:05Z [Term] id: HP:0009182 name: Triangular shaped middle phalanx of the 5th finger def: "Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] synonym: "Triangular shaped middle little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular shaped middle pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular shaped middle pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024552 is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009378 ! Triangular shaped phalanges of the 5th finger is_a: HP:0009850 ! Triangular shaped middle phalanges of the hand created_by: peter creation_date: 2008-12-29T04:05:33Z [Term] id: HP:0009183 name: Joint contracture of the 5th finger alt_id: HP:0001184 def: "Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected." [HPO:sdoelken] synonym: "Fifth finger camptodactyly" EXACT [] xref: UMLS:C1865702 is_a: HP:0004207 ! Abnormal 5th finger morphology is_a: HP:0012785 ! Flexion contracture of finger created_by: peter creation_date: 2008-12-29T04:11:30Z [Term] id: HP:0009184 name: Contracture of the distal interphalangeal joint of the 5th finger def: "Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue." [HPO:probinson] xref: UMLS:C4024551 is_a: HP:0009183 ! Joint contracture of the 5th finger is_a: HP:0009697 ! Contracture of the distal interphalangeal joint of the fingers created_by: peter creation_date: 2008-12-29T04:16:15Z [Term] id: HP:0009185 name: Contracture of the proximal interphalangeal joint of the 5th finger alt_id: HP:0005047 alt_id: HP:0006062 def: "Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement." [HPO:probinson] synonym: "5th finger camptodactyly" EXACT [] xref: UMLS:C3554612 is_a: HP:0009183 ! Joint contracture of the 5th finger is_a: HP:0100490 ! Camptodactyly of finger created_by: peter creation_date: 2008-12-29T04:16:58Z [Term] id: HP:0009186 name: Contracture of the metacarpophalangeal joint of the 5th finger def: "Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue." [HPO:curator] xref: UMLS:C4024550 is_a: HP:0009183 ! Joint contracture of the 5th finger created_by: peter creation_date: 2008-12-29T04:18:00Z [Term] id: HP:0009187 name: Bracket epiphysis of the distal phalanx of the 5th finger def: "An abnormality of the distal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators] synonym: "Bracket shaped end part of the outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bracket shaped end part of the outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bracket shaped end part of the outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024549 is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009383 ! Bracket epiphyses of the 5th finger is_a: HP:0010247 ! Bracket epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2008-12-30T12:07:32Z [Term] id: HP:0009188 name: Pseudoepiphysis of the distal phalanx of the 5th finger def: "A secondary ossification center in the distal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators] xref: UMLS:C4024548 is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009389 ! Pseudoepiphyses of the 5th finger is_a: HP:0010253 ! Pseudoepiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2008-12-30T12:28:19Z [Term] id: HP:0009189 name: Fragmentation of the metacarpal epiphyses def: "Fragmented appearance of the epiphyses of the metacarpals." [HPO:curators] synonym: "Fragmentation of end part of the long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024547 is_a: HP:0003841 ! Fragmented epiphyses of the upper limbs is_a: HP:0005913 ! Abnormality of metacarpal epiphyses created_by: doelkens creation_date: 2008-12-30T02:03:34Z [Term] id: HP:0009190 name: Irregular epiphyses of the metacarpals def: "Irregular radiographic opacity of the epiphyses of the metacarpals." [HPO:curators] synonym: "Irregular end part of the long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024546 is_a: HP:0003842 ! Irregular epiphyses of the upper limbs is_a: HP:0005913 ! Abnormality of metacarpal epiphyses created_by: doelkens creation_date: 2008-12-30T02:03:34Z [Term] id: HP:0009191 name: Ivory epiphyses of the metacarpals def: "Sclerosis of the epiphyses of the metacarpals, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] synonym: "Increased bone density of end part of the long bone of hands" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024545 is_a: HP:0005913 ! Abnormality of metacarpal epiphyses is_a: HP:0010583 ! Ivory epiphyses is_a: HP:0011001 ! Increased bone mineral density created_by: doelkens creation_date: 2008-12-30T02:03:34Z [Term] id: HP:0009192 name: Aplasia/Hypoplasia of the proximal phalanx of the 5th finger def: "Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger." [HPO:curators] synonym: "Absent/small innermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/small innermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/small innermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped innermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024544 is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009376 ! Aplasia/Hypoplasia of the phalanges of the 5th finger created_by: doelkens creation_date: 2009-01-05T05:57:28Z [Term] id: HP:0009193 name: Pseudoepiphyses of the metacarpals alt_id: HP:0006091 alt_id: HP:0006164 def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone." [HPO:doelkens] synonym: "Accessory proximal metacarpal ossification centers" EXACT [] synonym: "Metacarpal pseudoepiphyses" EXACT [] xref: UMLS:C1860253 is_a: HP:0004288 ! Pseudoepiphyses of hand bones is_a: HP:0005913 ! Abnormality of metacarpal epiphyses created_by: doelkens creation_date: 2008-12-30T02:03:34Z [Term] id: HP:0009194 name: Small epiphyses of the metacarpals def: "Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms." [HPO:curators] synonym: "Small end part of the long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024543 is_a: HP:0005913 ! Abnormality of metacarpal epiphyses is_a: HP:0010585 ! Small epiphyses created_by: doelkens creation_date: 2008-12-30T02:03:34Z [Term] id: HP:0009195 name: Epiphyseal stippling of the metacarpals def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the metacarpals." [HPO:probinson] synonym: "Speckled calcifications in end part of the long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Stippling of the epiphyses of the metacarpals" EXACT [] xref: UMLS:C4021514 is_a: HP:0005913 ! Abnormality of metacarpal epiphyses is_a: HP:0010655 ! Epiphyseal stippling is_a: HP:0010660 ! Abnormal hand bone ossification created_by: doelkens creation_date: 2008-12-30T02:03:34Z [Term] id: HP:0009196 name: Absent metacarpal epiphyses alt_id: HP:0006013 def: "Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals." [HPO:curators] synonym: "Absent end part of the long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent metacarpal ossification center" EXACT [] xref: UMLS:C4021513 is_a: HP:0005913 ! Abnormality of metacarpal epiphyses is_a: HP:0010577 ! Absent epiphyses created_by: doelkens creation_date: 2008-12-30T02:03:34Z [Term] id: HP:0009197 name: Bracket epiphysis of the proximal phalanx of the 5th finger def: "An abnormality of the proximal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators] synonym: "Bracket shaped end part of the innermost bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bracket shaped end part of the innermost bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bracket shaped end part of the innermost bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024542 is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009383 ! Bracket epiphyses of the 5th finger is_a: HP:0010269 ! Bracket epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:05:01Z [Term] id: HP:0009198 name: Abnormality of the epiphysis of the distal phalanx of the 5th finger alt_id: HP:0004228 def: "Abnormality of the epiphysis of the distal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx." [HPO:curators] synonym: "Abnormality of end part of the innermost bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of end part of the innermost bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of end part of the innermost bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the epiphysis of the terminal phalanx of the little finger" EXACT [] xref: UMLS:C4021512 is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger created_by: doelkens creation_date: 2009-01-05T04:41:32Z [Term] id: HP:0009199 name: Irregular epiphysis of the proximal phalanx of the 5th finger def: "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger." [HPO:curators] synonym: "Irregular end part of the innermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Irregular end part of the innermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Irregular end part of the innermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024541 is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009387 ! Irregular epiphyses of the 5th finger is_a: HP:0010273 ! Irregular epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:09:06Z [Term] id: HP:0009200 name: Pseudoepiphysis of the proximal phalanx of the 5th finger def: "A secondary ossification center in the proximal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators] xref: UMLS:C4024540 is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009389 ! Pseudoepiphyses of the 5th finger is_a: HP:0010275 ! Pseudoepiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:10:13Z [Term] id: HP:0009201 name: Stippling of the epiphysis of the proximal phalanx of the 5th finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger." [HPO:curators] synonym: "Speckled calcifications in end part of the innnermost bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Speckled calcifications in end part of the innnermost bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Speckled calcifications in end part of the innnermost bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024539 is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009391 ! Stippling of the epiphyses of the 5th finger is_a: HP:0010277 ! Stippling of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:11:42Z [Term] id: HP:0009202 name: Fragmentation of the epiphysis of the proximal phalanx of the 5th finger def: "Fragmented appearance of the epiphysis of the proximal phalanx of the 5th finger." [HPO:curators] synonym: "Fragmentation of end part of the innermost bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fragmentation of end part of the innermost bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fragmentation of end part of the innermost bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024538 is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009386 ! Fragmentation of the epiphyses of the 5th finger is_a: HP:0010272 ! Fragmentation of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:13:41Z [Term] id: HP:0009203 name: Absent epiphysis of the middle phalanx of the 5th finger def: "Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger." [HPO:curators] synonym: "Absent end part of the middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent end part of the middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent end part of the middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024537 is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009382 ! Absent epiphyses of the 5th finger is_a: HP:0010257 ! Absent epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009204 name: Bracket epiphysis of the middle phalanx of the 5th finger def: "An abnormality of the middle phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators] synonym: "Bracket shaped end part of the middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bracket shaped end part of the middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bracket shaped end part of the middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024536 is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009383 ! Bracket epiphyses of the 5th finger is_a: HP:0010258 ! Bracket epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009205 name: Cone-shaped epiphysis of the middle phalanx of the 5th finger def: "A cone-shaped appearance of the epiphysis of the middle phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] synonym: "Cone-shaped end part of the middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cone-shaped end part of the middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cone-shaped end part of the middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024535 is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009384 ! Cone-shaped epiphyses of the 5th finger is_a: HP:0010259 ! Cone-shaped epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009206 name: Enlarged epiphysis of the middle phalanx of the 5th finger def: "Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms." [HPO:curators] synonym: "Enlarged end part of the middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Enlarged end part of the middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Enlarged end part of the middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024534 is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009385 ! Enlarged epiphyses of the 5th finger is_a: HP:0010260 ! Enlarged epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009207 name: Fragmentation of the epiphysis of the middle phalanx of the 5th finger def: "Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger." [HPO:curators] synonym: "Fragmentation of end part of the middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fragmentation of end part of the middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fragmentation of end part of the middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024533 is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009386 ! Fragmentation of the epiphyses of the 5th finger is_a: HP:0010261 ! Fragmentation of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009208 name: Irregular epiphysis of the middle phalanx of the 5th finger def: "Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger." [HPO:curators] synonym: "Irregular end part of the middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Irregular end part of the middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Irregular end part of the middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024532 is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009387 ! Irregular epiphyses of the 5th finger is_a: HP:0010262 ! Irregular epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009209 name: Ivory epiphysis of the middle phalanx of the 5th finger def: "Sclerosis of the epiphysis of the middle phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] synonym: "Increased bone density of end part of the middle bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased bone density of end part of the middle bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased bone density of end part of the middle bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024531 is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009388 ! Ivory epiphyses of the 5th finger is_a: HP:0010263 ! Ivory epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009210 name: Pseudoepiphysis of the middle phalanx of the 5th finger def: "A secondary ossification center in the middle phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators] xref: UMLS:C4024530 is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009389 ! Pseudoepiphyses of the 5th finger is_a: HP:0010264 ! Pseudoepiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009211 name: Small epiphysis of the middle phalanx of the 5th finger def: "Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms." [HPO:curators] synonym: "Small end part of the middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Small end part of the middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Small end part of the middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024529 is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009390 ! Small epiphyses of the 5th finger is_a: HP:0010265 ! Small epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009212 name: Stippling of the epiphysis of the middle phalanx of the 5th finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 5th finger." [HPO:curators] synonym: "Speckled calcifications in end part of the middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Speckled calcifications in end part of the middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Speckled calcifications in end part of the middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024528 is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009391 ! Stippling of the epiphyses of the 5th finger is_a: HP:0010266 ! Stippling of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009213 name: Triangular epiphysis of the middle phalanx of the 5th finger def: "A triangular appearance of the epiphysis of the middle phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the middle phalanx of the 5th finger" EXACT [] synonym: "Triangular end part of the middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular end part of the middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular end part of the middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021511 is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009392 ! Triangular epiphyses of the 5th finger is_a: HP:0010267 ! Triangular epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009214 name: Absent epiphysis of the middle phalanx of the 4th finger def: "Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger." [HPO:curators] synonym: "Absent end part of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024527 is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009393 ! Absent epiphyses of the 4th finger is_a: HP:0010257 ! Absent epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009215 name: Bracket epiphysis of the middle phalanx of the 4th finger def: "An abnormality of the middle phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators] synonym: "Bracket shaped end part of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024526 is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009394 ! Bracket epiphyses of the 4th finger is_a: HP:0010258 ! Bracket epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009216 name: Cone-shaped epiphysis of the middle phalanx of the 4th finger def: "A cone-shaped appearance of the epiphysis of the middle phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] synonym: "Cone-shaped end part of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024525 is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009395 ! Cone-shaped epiphyses of the 4th finger is_a: HP:0010259 ! Cone-shaped epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009217 name: Enlarged epiphysis of the middle phalanx of the 4th finger def: "Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms." [HPO:curators] synonym: "Enlarged end part of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024524 is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009396 ! Enlarged epiphyses of the 4th finger is_a: HP:0010260 ! Enlarged epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009218 name: Fragmentation of the epiphysis of the middle phalanx of the 4th finger def: "Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger." [HPO:curators] synonym: "Fragmentation of end part of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024523 is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009397 ! Fragmentation of the epiphyses of the 4th finger is_a: HP:0010261 ! Fragmentation of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009219 name: Irregular epiphysis of the middle phalanx of the 4th finger def: "Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger." [HPO:curators] synonym: "Irregular end part of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024522 is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009398 ! Irregular epiphyses of the 4th finger is_a: HP:0010262 ! Irregular epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009220 name: Ivory epiphysis of the middle phalanx of the 4th finger def: "Sclerosis of the epiphysis of the middle phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] synonym: "Increased bone density of end part of the middle ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024521 is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009399 ! Ivory epiphyses of the 4th finger is_a: HP:0010263 ! Ivory epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009221 name: Pseudoepiphysis of the middle phalanx of the 4th finger def: "A secondary ossification center in the middle phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators] xref: UMLS:C4024520 is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009400 ! Pseudoepiphyses of the 4th finger is_a: HP:0010264 ! Pseudoepiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009222 name: Small epiphysis of the middle phalanx of the 4th finger def: "Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms." [HPO:curators] synonym: "Small end part of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024519 is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009401 ! Small epiphyses of the 4th finger is_a: HP:0010265 ! Small epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009223 name: Stippling of the epiphysis of the middle phalanx of the 4th finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 4th finger." [HPO:curators] synonym: "Speckled calcifications in end part of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024518 is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009402 ! Stippling of the epiphyses of the 4th finger is_a: HP:0010266 ! Stippling of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009224 name: Triangular epiphysis of the middle phalanx of the 4th finger def: "A triangular appearance of the epiphysis of the middle phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the middle phalanx of the 4th finger" EXACT [] synonym: "Triangular end part of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021510 is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009403 ! Triangular epiphyses of the 4th finger is_a: HP:0010267 ! Triangular epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009225 name: Aplasia of the proximal phalanx of the 5th finger def: "Absence of the proximal phalanx of the little (5th) finger." [HPO:curators] synonym: "Absent innermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024517 is_a: HP:0009192 ! Aplasia/Hypoplasia of the proximal phalanx of the 5th finger is_a: HP:0009238 ! Aplasia of the 5th finger is_a: HP:0010242 ! Aplasia of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T06:00:33Z [Term] id: HP:0009226 name: Short proximal phalanx of the 5th finger def: "Absence or underdevelopment (hypoplasia) of the proximal phalanx of the fifth finger." [HPO:sdoelken] synonym: "Hypoplastic/small proximal phalanx of the 5th finger" EXACT [] synonym: "Short innermost little finger bone" EXACT [ORCID:0000-0001-5208-3432] synonym: "Short innermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short innermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short proximal phalanx of the fifth finger" EXACT layperson [] xref: UMLS:C4021509 is_a: HP:0009192 ! Aplasia/Hypoplasia of the proximal phalanx of the 5th finger is_a: HP:0009237 ! Short 5th finger is_a: HP:0010241 ! Short proximal phalanx of finger created_by: doelkens creation_date: 2009-01-05T06:01:34Z [Term] id: HP:0009227 name: Broad proximal phalanx of the 5th finger def: "Increased width of the proximal phalanx of the 5th finger." [HPO:curators] synonym: "Broad innermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Broad innermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Broad innermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide proximal phalanx of the 5th finger" EXACT [] xref: UMLS:C4021508 is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009374 ! Broad phalanges of the 5th finger is_a: HP:0009852 ! Broad proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T06:11:33Z [Term] id: HP:0009228 name: Bullet-shaped proximal phalanx of the 5th finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 5th finger is affected." [HPO:curators] synonym: "Bullet-shaped innermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bullet-shaped innermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bullet-shaped innermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024516 is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009375 ! Bullet-shaped phalanges of the 5th finger is_a: HP:0009853 ! Bullet-shaped proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T06:11:33Z [Term] id: HP:0009229 name: Curved proximal phalanx of the 5th finger def: "Curved appearance of the proximal phalanx of the 5th finger." [HPO:curators] synonym: "Curved innermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Curved innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Curved innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024515 is_a: HP:0004214 ! Curved phalanges of the 5th finger is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009854 ! Curved proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T06:11:33Z [Term] id: HP:0009230 name: Osteolytic defects of the proximal phalanx of the 5th finger def: "Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger." [HPO:curators] xref: UMLS:C4024514 is_a: HP:0004216 ! Osteolytic defects of the phalanges of the 5th finger is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009855 ! Osteolytic defects of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T06:11:33Z [Term] id: HP:0009231 name: Patchy sclerosis of the proximal phalanx of the 5th finger def: "Patchy increase in bone density of the proximal phalanx of the 5th finger." [HPO:curators] synonym: "Uneven increase in bone density in the innermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Uneven increase in bone density in the innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Uneven increase in bone density in the innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024513 is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009377 ! Patchy sclerosis of 5th finger phalanx is_a: HP:0009856 ! Patchy sclerosis of proximal phalanx of finger is_a: HP:0100911 ! Sclerosis of the proximal phalanx of the 5th finger created_by: doelkens creation_date: 2009-01-05T06:11:33Z [Term] id: HP:0009232 name: Symphalangism affecting the proximal phalanx of the 5th finger def: "Fusion of the proximal phalanx of the 5th finger with another bone." [HPO:curators] synonym: "Fused innermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fused innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fused innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024512 is_a: HP:0004218 ! Symphalangism of the 5th finger is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009857 ! Symphalangism affecting the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T06:11:33Z [Term] id: HP:0009233 name: Triangular shaped proximal phalanx of the 5th finger def: "Triangular shaped proximal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] synonym: "Triangular shaped innermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular shaped innermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular shaped innermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024511 is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009378 ! Triangular shaped phalanges of the 5th finger is_a: HP:0009858 ! Triangular shaped proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T06:11:33Z [Term] id: HP:0009234 name: Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal def: "Fusion of the proximal phalanx of the 5th finger with the 5th metacarpal." [HPO:curators] synonym: "Fused innermost bone of little finger with 5th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fused innermost bone of pinkie finger with 5th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fused innermost bone of pinky finger with 5th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024510 is_a: HP:0005880 ! Metacarpophalangeal synostosis is_a: HP:0009232 ! Symphalangism affecting the proximal phalanx of the 5th finger is_a: HP:0009708 ! Synostosis involving the 5th metacarpal created_by: doelkens creation_date: 2009-01-05T06:19:01Z [Term] id: HP:0009236 name: Rhomboid or triangular shaped 5th finger proximal phalanx def: "Rhomboid or triangular shaped 5th (little) finger proximal phalanx." [HPO:curators] synonym: "Rhomboid or triangular shaped innermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Rhomboid or triangular shaped innermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Rhomboid or triangular shaped innermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024509 is_a: HP:0009233 ! Triangular shaped proximal phalanx of the 5th finger created_by: doelkens creation_date: 2009-01-05T06:20:38Z [Term] id: HP:0009237 name: Short 5th finger alt_id: HP:0001205 alt_id: HP:0004208 alt_id: HP:0004210 alt_id: HP:0004211 alt_id: HP:0004215 alt_id: HP:0004217 alt_id: HP:0005804 alt_id: HP:0005888 def: "Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger." [HPO:sdoelken] synonym: "Fifth finger brachydactyly" EXACT [] synonym: "Hypoplastic phalanges of the little finger" EXACT [] synonym: "Hypoplastic/small 5th finger" EXACT [] synonym: "Hypoplastic/small little finger" EXACT [] synonym: "Short 5th finger" EXACT layperson [] synonym: "Short fifth finger" EXACT layperson [] synonym: "Short fifth fingers" EXACT layperson [] synonym: "Short little finger" EXACT layperson [] synonym: "Short phalanges of the little finger" EXACT [] synonym: "Short pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1842878 is_a: HP:0006262 ! Aplasia/Hypoplasia of the 5th finger is_a: HP:0009381 ! Short finger created_by: doelkens creation_date: 2009-01-05T06:54:07Z [Term] id: HP:0009238 name: Aplasia of the 5th finger def: "Absent 5th (little) finger." [HPO:curators] synonym: "Absent little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024508 is_a: HP:0006262 ! Aplasia/Hypoplasia of the 5th finger is_a: HP:0009380 ! Aplasia of the fingers created_by: doelkens creation_date: 2009-01-05T07:02:48Z [Term] id: HP:0009239 name: Aplasia/Hypoplasia of the distal phalanx of the 5th finger synonym: "Absent/small outermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/small outermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/small outermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped outermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024507 is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009376 ! Aplasia/Hypoplasia of the phalanges of the 5th finger created_by: doelkens creation_date: 2009-01-05T07:25:50Z [Term] id: HP:0009240 name: Broad distal phalanx of the 5th finger def: "Increased width of the distal phalanx of the 5th finger." [HPO:curators] synonym: "Broad outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Broad outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Broad outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024506 is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009374 ! Broad phalanges of the 5th finger is_a: HP:0009836 ! Broad distal phalanx of finger created_by: doelkens creation_date: 2009-01-05T07:25:50Z [Term] id: HP:0009241 name: Bullet-shaped distal phalanx of the 5th finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 5th finger is affected." [HPO:curators] synonym: "Bullet-shaped outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bullet-shaped outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bullet-shaped outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024505 is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009375 ! Bullet-shaped phalanges of the 5th finger is_a: HP:0009837 ! Bullet-shaped distal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T07:25:50Z [Term] id: HP:0009242 name: Osteolytic defects of the distal phalanx of the 5th finger def: "Dissolution or degeneration of bone tissue of the distal phalanx of the 5th finger." [HPO:curators] xref: UMLS:C4024504 is_a: HP:0004216 ! Osteolytic defects of the phalanges of the 5th finger is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009839 ! Osteolytic defects of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T07:25:50Z [Term] id: HP:0009243 name: Patchy sclerosis of the distal phalanx of the 5th finger def: "Patchy increase in bone density of the distal phalanx of the 5th finger." [HPO:curators] synonym: "Uneven increase in bone density in the outermost bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Uneven increase in bone density in the outermost bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Uneven increase in bone density in the outermost bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024503 is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009377 ! Patchy sclerosis of 5th finger phalanx is_a: HP:0009840 ! Patchy sclerosis of distal phalanx of finger is_a: HP:0100903 ! Sclerosis of the distal phalanx of the 5th finger created_by: doelkens creation_date: 2009-01-05T07:25:50Z [Term] id: HP:0009244 name: Distal/middle symphalangism of 5th finger alt_id: HP:0006250 alt_id: HP:0009176 def: "Fusion of the terminal/distal and middle phalanges of the 5th finger." [HPO:curators] synonym: "Fifth finger distal interphalangeal joint symphalangism" EXACT [] synonym: "Fused end and middle bones of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fused end and middle bones of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fused end and middle bones of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fusion of the terminal and middle phalanges of the 5th finger" RELATED layperson [] synonym: "Symphalangism of the distal and middle phalanges of the 5th finger" EXACT [] synonym: "Symphalangism of the terminal and middle phalanges of the 5th finger" EXACT [] xref: UMLS:C1868573 xref: UMLS:C4020781 is_a: HP:0001204 ! Distal symphalangism of hands is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009178 ! Symphalangism of middle phalanx of 5th finger created_by: doelkens creation_date: 2009-01-05T07:25:50Z [Term] id: HP:0009245 name: Triangular shaped distal phalanx of the 5th finger def: "Triangular shaped distal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] synonym: "Triangular shaped outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular shaped outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular shaped outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024502 is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009378 ! Triangular shaped phalanges of the 5th finger is_a: HP:0009875 ! Triangular shaped distal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T07:25:50Z [Term] id: HP:0009246 name: Aplasia of the distal phalanx of the 5th finger def: "Absence of the distal phalanx of the little (5th) finger." [HPO:curators] synonym: "Absent outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024501 is_a: HP:0009238 ! Aplasia of the 5th finger is_a: HP:0009239 ! Aplasia/Hypoplasia of the distal phalanx of the 5th finger is_a: HP:0009881 ! Aplasia of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T07:27:52Z [Term] id: HP:0009247 name: Abnormality of the epiphysis of the middle phalanx of the 4th finger synonym: "Abnormality of the end part of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024500 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-07T11:29:14Z [Term] id: HP:0009248 name: Abnormality of the epiphysis of the proximal phalanx of the 4th finger synonym: "Abnormality of the end part of the innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024499 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:04:09Z [Term] id: HP:0009249 name: Abnormality of the epiphysis of the distal phalanx of the 4th finger synonym: "Abnormality of the end part of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024498 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger created_by: doelkens creation_date: 2009-01-07T12:04:09Z [Term] id: HP:0009250 name: Absent epiphysis of the distal phalanx of the 4th finger def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger." [HPO:curators] synonym: "Absent end part of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024497 is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009393 ! Absent epiphyses of the 4th finger is_a: HP:0010246 ! Absent epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009251 name: Bracket epiphysis of the distal phalanx of the 4th finger def: "An abnormality of the distal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators] synonym: "Bracket shaped end part of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024496 is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009394 ! Bracket epiphyses of the 4th finger is_a: HP:0010247 ! Bracket epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009252 name: Cone-shaped epiphysis of the distal phalanx of the 4th finger def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] synonym: "Cone-shaped end part of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024495 is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009395 ! Cone-shaped epiphyses of the 4th finger is_a: HP:0010248 ! Cone-shaped epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009253 name: Enlarged epiphysis of the distal phalanx of the 4th finger def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms." [HPO:curators] synonym: "Enlarged end part of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024494 is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009396 ! Enlarged epiphyses of the 4th finger is_a: HP:0010249 ! Enlarged epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009254 name: Fragmentation of the epiphysis of the distal phalanx of the 4th finger def: "Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger." [HPO:curators] synonym: "Fragmentation of end part of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024493 is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009397 ! Fragmentation of the epiphyses of the 4th finger is_a: HP:0010250 ! Fragmentation of the epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009255 name: Irregular epiphysis of the distal phalanx of the 4th finger def: "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger." [HPO:curators] synonym: "Irregular end part of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024492 is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009398 ! Irregular epiphyses of the 4th finger is_a: HP:0010251 ! Irregular epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009256 name: Ivory epiphysis of the distal phalanx of the 4th finger def: "Sclerosis of the epiphysis of the distal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] synonym: "Increased bone density of end part of the outermost ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024491 is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009399 ! Ivory epiphyses of the 4th finger is_a: HP:0010252 ! Ivory epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009257 name: Pseudoepiphysis of the distal phalanx of the 4th finger def: "A secondary ossification center in the distal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators] xref: UMLS:C4024490 is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009400 ! Pseudoepiphyses of the 4th finger is_a: HP:0010253 ! Pseudoepiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009258 name: Small epiphysis of the distal phalanx of the 4th finger def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms." [HPO:curators] synonym: "Small end part of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024489 is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009401 ! Small epiphyses of the 4th finger is_a: HP:0010254 ! Small epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009259 name: Stippling of the epiphysis of the distal phalanx of the 4th finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 4th finger." [HPO:curators] synonym: "Speckled calcifications in the end part of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024488 is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009402 ! Stippling of the epiphyses of the 4th finger is_a: HP:0010255 ! Stippling of the epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009260 name: Triangular epiphysis of the distal phalanx of the 4th finger def: "A triangular appearance of the epiphysis of the distal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the distal phalanx of the 4th finger" EXACT [] synonym: "Triangular end part of the outermost bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021507 is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009403 ! Triangular epiphyses of the 4th finger is_a: HP:0010256 ! Triangular epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009261 name: Absent epiphysis of the proximal phalanx of the 4th finger def: "Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger." [HPO:curators] synonym: "Absent end part of the innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024487 is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009393 ! Absent epiphyses of the 4th finger is_a: HP:0010268 ! Absent epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009262 name: Bracket epiphysis of the proximal phalanx of the 4th finger alt_id: HP:0004200 def: "An abnormality of the proximal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators] synonym: "Bracket proximal epiphysis of the ring finger" EXACT [] synonym: "Bracket shaped end part of the innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021506 is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009394 ! Bracket epiphyses of the 4th finger is_a: HP:0010269 ! Bracket epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009263 name: Cone-shaped epiphysis of the proximal phalanx of the 4th finger def: "A cone-shaped appearance of the epiphysis of the proximal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] synonym: "Cone-shaped end part of the innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024486 is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009395 ! Cone-shaped epiphyses of the 4th finger is_a: HP:0010270 ! Cone-shaped epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009264 name: Enlarged epiphysis of the proximal phalanx of the 4th finger def: "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms." [HPO:curators] synonym: "Enlarged end part of the innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024485 is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009396 ! Enlarged epiphyses of the 4th finger is_a: HP:0010271 ! Enlarged epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009265 name: Fragmentation of the epiphysis of the proximal phalanx of the 4th finger def: "Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger." [HPO:curators] synonym: "Fragmentation of end part of the innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024484 is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009397 ! Fragmentation of the epiphyses of the 4th finger is_a: HP:0010272 ! Fragmentation of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009266 name: Irregular epiphysis of the proximal phalanx of the 4th finger def: "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger." [HPO:curators] synonym: "Irregular end part of the innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024483 is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009398 ! Irregular epiphyses of the 4th finger is_a: HP:0010273 ! Irregular epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009267 name: Ivory epiphysis of the proximal phalanx of the 4th finger def: "Sclerosis of the epiphysis of the proximal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] synonym: "Increased bone density of end part of the innermost ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024482 is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009399 ! Ivory epiphyses of the 4th finger is_a: HP:0010274 ! Ivory epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009268 name: Pseudoepiphysis of the proximal phalanx of the 4th finger def: "A secondary ossification center in the proximal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators] xref: UMLS:C4024481 is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009400 ! Pseudoepiphyses of the 4th finger is_a: HP:0010275 ! Pseudoepiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009269 name: Small epiphysis of the proximal phalanx of the 4th finger def: "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms." [HPO:curators] synonym: "Small end part of the innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024480 is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009401 ! Small epiphyses of the 4th finger is_a: HP:0010276 ! Small epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009270 name: Stippling of the epiphysis of the proximal phalanx of the 4th finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 4th finger." [HPO:curators] synonym: "Speckled calcifications in end part of the innermost bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024479 is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009402 ! Stippling of the epiphyses of the 4th finger is_a: HP:0010277 ! Stippling of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009271 name: Triangular epiphysis of the proximal phalanx of the 4th finger def: "A triangular appearance of the epiphysis of the proximal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the proximal phalanx of the 4th finger" EXACT [] synonym: "Triangular end part of the innermost bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021505 is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009403 ! Triangular epiphyses of the 4th finger is_a: HP:0010278 ! Triangular epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009272 name: Aplasia/Hypoplasia of the 4th finger def: "A small/hypoplastic or absent/aplastic 4th (ring) finger." [HPO:curators] synonym: "Absent/small ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024478 is_a: HP:0004188 ! Abnormal 4th finger morphology is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers created_by: doelkens creation_date: 2009-01-07T04:01:26Z [Term] id: HP:0009273 name: Deviation of the 4th finger def: "Displacement of the 4th finger from its normal position." [HPO:curators] synonym: "Deviation of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024477 is_a: HP:0004097 ! Deviation of finger is_a: HP:0004188 ! Abnormal 4th finger morphology created_by: doelkens creation_date: 2009-01-07T04:03:23Z [Term] id: HP:0009274 name: Joint contracture of the 4th finger alt_id: HP:0004189 def: "Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected." [HPO:probinson] synonym: "Joint contractures of the fourth finger" EXACT [] xref: UMLS:C4021504 is_a: HP:0004188 ! Abnormal 4th finger morphology is_a: HP:0012785 ! Flexion contracture of finger created_by: doelkens creation_date: 2009-01-07T04:04:54Z [Term] id: HP:0009275 name: Contracture of the distal interphalangeal joint of the 4th finger def: "Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue." [HPO:probinson] xref: UMLS:C4024476 is_a: HP:0009274 ! Joint contracture of the 4th finger is_a: HP:0009697 ! Contracture of the distal interphalangeal joint of the fingers created_by: doelkens creation_date: 2009-01-07T04:10:39Z [Term] id: HP:0009276 name: Contracture of the proximal interphalangeal joint of the 4th finger alt_id: HP:0005845 def: "Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement." [HPO:probinson] synonym: "4th finger camptodactyly" EXACT [] synonym: "Camptodactyly of the 4th finger" EXACT [] synonym: "Camptodactyly of the ring finger" EXACT [] xref: UMLS:C4021503 is_a: HP:0009274 ! Joint contracture of the 4th finger is_a: HP:0100490 ! Camptodactyly of finger created_by: doelkens creation_date: 2009-01-07T04:10:39Z [Term] id: HP:0009277 name: Contracture of the metacarpophalangeal joint of the 4th finger def: "Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue." [HPO:curators] xref: UMLS:C4024475 is_a: HP:0009274 ! Joint contracture of the 4th finger created_by: doelkens creation_date: 2009-01-07T04:10:39Z [Term] id: HP:0009278 name: Ulnar deviation of the 4th finger def: "Displacement of the 4th finger towards the ulnar side (i.e., towards the ring finger)." [HPO:sdoelken] synonym: "Ulnar deviation of the ring finger" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4024474 is_a: HP:0009273 ! Deviation of the 4th finger is_a: HP:0009465 ! Ulnar deviation of finger created_by: doelkens creation_date: 2009-01-07T04:24:53Z [Term] id: HP:0009279 name: Radial deviation of the 4th finger def: "Displacement of the 4th finger towards the radial side (i.e., towards the thumb)." [HPO:sdoelken] synonym: "Radial deviation of the ring finger" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4024473 is_a: HP:0009273 ! Deviation of the 4th finger is_a: HP:0009466 ! Radial deviation of finger created_by: doelkens creation_date: 2009-01-07T04:24:53Z [Term] id: HP:0009280 name: Short 4th finger alt_id: HP:0004190 alt_id: HP:0006211 def: "Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger." [HPO:sdoelken] synonym: "Hypoplastic/small 4th finger" EXACT [] synonym: "Short ring finger" EXACT layperson [] xref: UMLS:C4021502 is_a: HP:0009272 ! Aplasia/Hypoplasia of the 4th finger is_a: HP:0009381 ! Short finger created_by: doelkens creation_date: 2009-01-07T04:28:08Z [Term] id: HP:0009281 name: Aplasia of the 4th finger def: "Absent 4th finger." [HPO:curators] synonym: "Absent ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024472 is_a: HP:0009272 ! Aplasia/Hypoplasia of the 4th finger is_a: HP:0009380 ! Aplasia of the fingers created_by: doelkens creation_date: 2009-01-07T04:28:08Z [Term] id: HP:0009282 name: Abnormality of the distal phalanx of the 4th finger synonym: "Abnormality of the outermost bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024471 is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology created_by: doelkens creation_date: 2009-01-07T04:42:40Z [Term] id: HP:0009283 name: Abnormality of the middle phalanx of the 4th finger alt_id: HP:0004204 synonym: "Abnormal middle bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the middle phalanx of the ring finger" EXACT layperson [] xref: UMLS:C4021501 is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology created_by: doelkens creation_date: 2009-01-07T04:42:40Z [Term] id: HP:0009284 name: Abnormality of the proximal phalanx of the 4th finger alt_id: HP:0004199 synonym: "Abnormal innermost bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the proximal phalanx of the ring finger" EXACT layperson [] xref: UMLS:C4021500 is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology created_by: doelkens creation_date: 2009-01-07T04:42:40Z [Term] id: HP:0009285 name: Curved phalanges of the 4th finger def: "Curved appearance of the phalanges of the 4th (ring) finger." [HPO:curators] synonym: "Curved ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024470 is_a: HP:0004095 ! Curved fingers is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology is_a: HP:0009770 ! Curved phalanges of the hand created_by: doelkens creation_date: 2009-01-08T03:44:14Z [Term] id: HP:0009286 name: Curved distal phalanx of the 4th finger def: "Curved appearance of the distal phalanx of the 4th (ring) finger." [HPO:curators] synonym: "Curved outermost ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024469 is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009285 ! Curved phalanges of the 4th finger is_a: HP:0009838 ! Curved distal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T03:46:28Z [Term] id: HP:0009287 name: Curved middle phalanx of the 4th finger def: "Curved appearance of the middle phalanx of the 4th (ring) finger." [HPO:curators] synonym: "Curved middle ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024468 is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009285 ! Curved phalanges of the 4th finger is_a: HP:0009846 ! Curved middle phalanges of the hand created_by: doelkens creation_date: 2009-01-08T03:46:28Z [Term] id: HP:0009288 name: Curved proximal phalanx of the 4th finger synonym: "Curved innermost ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024467 is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009285 ! Curved phalanges of the 4th finger is_a: HP:0009854 ! Curved proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T03:46:28Z [Term] id: HP:0009289 name: Aplasia/Hypoplasia of the distal phalanx of the 4th finger synonym: "Absent/small outermost ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped outermost ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024466 is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009408 ! Aplasia/Hypoplasia of the phalanges of the 4th finger created_by: doelkens creation_date: 2009-01-08T03:59:04Z [Term] id: HP:0009290 name: Short distal phalanx of the 4th finger def: "Hypoplastic/small distal phalanx of the fourth finger." [HPO:sdoelken] synonym: "Hypoplastic/small distal phalanx of the 4th finger" EXACT [] synonym: "Short distal phalanx of the fourth finger" EXACT [] synonym: "Short outermost bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021499 is_a: HP:0009280 ! Short 4th finger is_a: HP:0009289 ! Aplasia/Hypoplasia of the distal phalanx of the 4th finger is_a: HP:0009882 ! Short distal phalanx of finger created_by: doelkens creation_date: 2009-01-08T03:59:28Z [Term] id: HP:0009291 name: Aplasia of the distal phalanx of the 4th finger def: "Absence of the distal phalanx of the ring (4th) finger." [HPO:curators] synonym: "Absent outermost bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024465 is_a: HP:0009281 ! Aplasia of the 4th finger is_a: HP:0009289 ! Aplasia/Hypoplasia of the distal phalanx of the 4th finger is_a: HP:0009881 ! Aplasia of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:00:27Z [Term] id: HP:0009292 name: Broad distal phalanx of the 4th finger def: "Increased width of the distal phalanx of the 4th finger." [HPO:curators] synonym: "Broad outermost bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide outermost bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024464 is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009404 ! Broad phalanges of the 4th finger is_a: HP:0009836 ! Broad distal phalanx of finger created_by: doelkens creation_date: 2009-01-08T04:41:33Z [Term] id: HP:0009293 name: Broad middle phalanx of the 4th finger def: "Increased width of the middle phalanx of the 4th finger." [HPO:curators] synonym: "Broad middle bone of the 4th finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024463 is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009404 ! Broad phalanges of the 4th finger is_a: HP:0009844 ! Broad middle phalanx of finger created_by: doelkens creation_date: 2009-01-08T04:59:22Z [Term] id: HP:0009294 name: Absent middle phalanx of 4th finger def: "Absence of the middle phalanx of the ring (4th) finger." [HPO:curators] synonym: "Absent middle bone of 4th finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia of the middle phalanx of the 4th finger" EXACT [] xref: UMLS:C4021498 is_a: HP:0009281 ! Aplasia of the 4th finger is_a: HP:0009299 ! Aplasia/Hypoplasia of the middle phalanx of the 4th finger is_a: HP:0010239 ! Aplasia of the middle phalanx of the hand created_by: doelkens creation_date: 2009-01-08T04:11:35Z [Term] id: HP:0009295 name: Short middle phalanx of the 4th finger alt_id: HP:0004205 alt_id: HP:0004206 def: "Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger." [HPO:sdoelken] synonym: "Hypoplastic/small middle phalanx of ring finger" EXACT [] synonym: "Hypoplastic/small middle phalanx of the 4th finger" EXACT [] synonym: "Short middle bone of 4th finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short middle phalanx of ring finger" EXACT [] xref: UMLS:C4021497 is_a: HP:0005819 ! Short middle phalanx of finger is_a: HP:0009280 ! Short 4th finger is_a: HP:0009299 ! Aplasia/Hypoplasia of the middle phalanx of the 4th finger created_by: doelkens creation_date: 2009-01-08T04:11:35Z [Term] id: HP:0009296 name: Bullet-shaped middle phalanx of the 4th finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 4th finger is affected." [HPO:curators] synonym: "Bullet-shaped middle bone of the 4th finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024462 is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009405 ! Bullet-shaped phalanges of the 4th finger is_a: HP:0009845 ! Bullet-shaped middle phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:59:22Z [Term] id: HP:0009297 name: Osteolytic defects of the middle phalanx of the 4th finger def: "Dissolution or degeneration of bone tissue of the middle phalanx of the 4th finger." [HPO:curators] xref: UMLS:C4024461 is_a: HP:0004195 ! Osteolytic defects of the phalanges of the 4th finger is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009847 ! Osteolytic defects of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:59:22Z [Term] id: HP:0009298 name: Aplasia of the proximal phalanx of the 4th finger def: "Absence of the proximal phalanx of the ring (4th) finger." [HPO:curators] synonym: "Absent innermost ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024460 is_a: HP:0009281 ! Aplasia of the 4th finger is_a: HP:0009300 ! Aplasia/Hypoplasia of the proximal phalanx of the 4th finger is_a: HP:0010242 ! Aplasia of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:22:16Z [Term] id: HP:0009299 name: Aplasia/Hypoplasia of the middle phalanx of the 4th finger synonym: "Absent/small middle ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped middle ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024459 is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009408 ! Aplasia/Hypoplasia of the phalanges of the 4th finger created_by: doelkens creation_date: 2009-01-08T04:27:22Z [Term] id: HP:0009300 name: Aplasia/Hypoplasia of the proximal phalanx of the 4th finger alt_id: HP:0004203 synonym: "Absent/small innermost ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped innermost ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4020658 is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009408 ! Aplasia/Hypoplasia of the phalanges of the 4th finger created_by: doelkens creation_date: 2009-01-08T04:28:54Z [Term] id: HP:0009301 name: Short proximal phalanx of the 4th finger def: "Hypoplastic/small proximal phalanx of the fourth finger." [HPO:sdoelken] synonym: "Hypoplastic/small proximal phalanx of the 4th finger" EXACT [] synonym: "Short innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Short proximal phalanx of the fourth finger" EXACT [] xref: UMLS:C4021496 is_a: HP:0009280 ! Short 4th finger is_a: HP:0009300 ! Aplasia/Hypoplasia of the proximal phalanx of the 4th finger is_a: HP:0010241 ! Short proximal phalanx of finger created_by: doelkens creation_date: 2009-01-08T04:29:38Z [Term] id: HP:0009302 name: Bullet-shaped distal phalanx of the 4th finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 4th finger is affected." [HPO:curators] synonym: "Bullet-shaped outermost bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024458 is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009405 ! Bullet-shaped phalanges of the 4th finger is_a: HP:0009837 ! Bullet-shaped distal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:41:33Z [Term] id: HP:0009303 name: Osteolytic defects of the distal phalanx of the 4th finger def: "Dissolution or degeneration of bone tissue of the distal phalanx of the 4th finger." [HPO:curators] xref: UMLS:C4024457 is_a: HP:0004195 ! Osteolytic defects of the phalanges of the 4th finger is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009839 ! Osteolytic defects of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:41:33Z [Term] id: HP:0009304 name: Patchy sclerosis of the distal phalanx of the 4th finger def: "Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger." [HPO:probinson] synonym: "Uneven increase in bone density in the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024456 is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009406 ! Patchy sclerosis of 4th finger phalanx is_a: HP:0009840 ! Patchy sclerosis of distal phalanx of finger is_a: HP:0100902 ! Sclerosis of the distal phalanx of the 4th finger created_by: doelkens creation_date: 2009-01-08T04:41:33Z [Term] id: HP:0009305 name: Distal/middle symphalangism of 4th finger alt_id: HP:0009474 alt_id: HP:0009475 def: "Fusion of the terminal/distal and middle phalanges of the 4th finger." [HPO:curators] synonym: "Fused outermost and middle bones of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Symphalangism of the distal and middle phalanges of the 4th finger" EXACT [] xref: UMLS:C4021495 is_a: HP:0001204 ! Distal symphalangism of hands is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009308 ! Symphalangism of middle phalanx of 4th finger created_by: doelkens creation_date: 2009-01-08T04:41:33Z [Term] id: HP:0009306 name: Triangular shaped distal phalanx of the 4th finger def: "Triangular shaped distal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] synonym: "Triangular shaped outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024455 is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009407 ! Triangular shaped phalanges of the 4th finger is_a: HP:0009875 ! Triangular shaped distal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:41:33Z [Term] id: HP:0009307 name: Patchy sclerosis of the middle phalanx of the 4th finger def: "Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger." [HPO:probinson] synonym: "Uneven increase in bone density in the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024454 is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009406 ! Patchy sclerosis of 4th finger phalanx is_a: HP:0009848 ! Patchy sclerosis of middle phalanx of finger is_a: HP:0100906 ! Sclerosis of the middle phalanx of the 4th finger created_by: doelkens creation_date: 2009-01-08T04:59:22Z [Term] id: HP:0009308 name: Symphalangism of middle phalanx of 4th finger def: "Fusion of the middle phalanx of the 4th finger with another bone." [HPO:sdoelken] synonym: "Fused middle bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024453 is_a: HP:0004197 ! Symphalangism of the 4th finger is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009849 ! Symphalangism of middle phalanx of finger created_by: doelkens creation_date: 2009-01-08T04:59:22Z [Term] id: HP:0009309 name: Triangular shaped middle phalanx of the 4th finger def: "Triangular shaped middle phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] synonym: "Triangular shaped middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024452 is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009407 ! Triangular shaped phalanges of the 4th finger is_a: HP:0009850 ! Triangular shaped middle phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:59:22Z [Term] id: HP:0009310 name: Broad proximal phalanx of the 4th finger alt_id: HP:0004201 def: "Increased width of the proximal phalanx of the 4th finger." [HPO:curators] synonym: "Broad innermost ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4020660 is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009404 ! Broad phalanges of the 4th finger is_a: HP:0009852 ! Broad proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T05:11:48Z [Term] id: HP:0009311 name: Bullet-shaped proximal phalanx of the 4th finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 4th finger is affected." [HPO:curators] synonym: "Bullet-shaped innermost ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024451 is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009405 ! Bullet-shaped phalanges of the 4th finger is_a: HP:0009853 ! Bullet-shaped proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T05:11:48Z [Term] id: HP:0009312 name: Osteolytic defects of the proximal phalanx of the 4th finger alt_id: HP:0004202 def: "Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger." [HPO:curators] xref: UMLS:C4024450 is_a: HP:0004195 ! Osteolytic defects of the phalanges of the 4th finger is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009855 ! Osteolytic defects of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T05:11:48Z [Term] id: HP:0009313 name: Patchy sclerosis of the proximal phalanx of the 4th finger def: "Uneven (irregular) increase in bone density of the proximal phalanx of the fourth finger." [HPO:probinson] synonym: "Uneven increase in bone density in the innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024449 is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009406 ! Patchy sclerosis of 4th finger phalanx is_a: HP:0009856 ! Patchy sclerosis of proximal phalanx of finger is_a: HP:0100910 ! Sclerosis of the proximal phalanx of the 4th finger created_by: doelkens creation_date: 2009-01-08T05:11:48Z [Term] id: HP:0009314 name: Symphalangism affecting the proximal phalanx of the 4th finger def: "Fusion of the proximal phalanx of the 4th finger with another bone." [HPO:curators] synonym: "Fused innermost bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024448 is_a: HP:0004197 ! Symphalangism of the 4th finger is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009857 ! Symphalangism affecting the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T05:11:48Z [Term] id: HP:0009315 name: Triangular shaped proximal phalanx of the 4th finger def: "Triangular shaped proximal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] synonym: "Triangular shaped innermost bone of the 4th finger" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Triangular shaped innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024447 is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009407 ! Triangular shaped phalanges of the 4th finger is_a: HP:0009858 ! Triangular shaped proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T05:11:48Z [Term] id: HP:0009316 name: Abnormal 3rd finger phalanx morphology alt_id: HP:0004155 def: "Abnormality of the phalanges of the 3rd (middle) finger." [HPO:curators] synonym: "Abnormality of 3rd finger phalanges" EXACT [] synonym: "Abnormality of middle finger phalanges" EXACT [] synonym: "Abnormality of the middle finger bones" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Abnormality of the phalanges of the 3rd finger" EXACT [] xref: UMLS:C4021494 is_a: HP:0004150 ! Abnormal 3rd finger morphology is_a: HP:0005918 ! Abnormal finger phalanx morphology created_by: doelkens creation_date: 2009-01-12T11:00:24Z [Term] id: HP:0009317 name: Deviation of the 3rd finger alt_id: HP:0004152 def: "Displacement of the 3rd finger from its normal position." [HPO:curators] synonym: "Deviated middle finger" EXACT layperson [] xref: UMLS:C4021493 is_a: HP:0004097 ! Deviation of finger is_a: HP:0004150 ! Abnormal 3rd finger morphology created_by: doelkens creation_date: 2009-01-12T11:02:27Z [Term] id: HP:0009318 name: Aplasia/Hypoplasia of the 3rd finger def: "A small/hypoplastic or absent/aplastic 3rd (middle) finger." [HPO:curators] synonym: "Absent/small middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024446 is_a: HP:0004150 ! Abnormal 3rd finger morphology is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers created_by: doelkens creation_date: 2009-01-12T11:04:08Z [Term] id: HP:0009319 name: Joint contracture of the 3rd finger alt_id: HP:0004151 def: "Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and/or proximal interphalangeal joints are affected." [HPO:probinson] synonym: "Camptodactyly of middle finger" EXACT [] xref: UMLS:C4021492 is_a: HP:0004150 ! Abnormal 3rd finger morphology is_a: HP:0012785 ! Flexion contracture of finger created_by: doelkens creation_date: 2009-01-12T11:05:43Z [Term] id: HP:0009320 name: Abnormality of the epiphyses of the 3rd finger def: "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger." [HPO:curators] synonym: "Abnormality of end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024445 is_a: HP:0004150 ! Abnormal 3rd finger morphology is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:07:00Z [Term] id: HP:0009321 name: Absent epiphysis of the middle phalanx of the 3rd finger def: "Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger." [HPO:curators] synonym: "Absent end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024444 is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009410 ! Absent epiphyses of the 3rd finger is_a: HP:0010257 ! Absent epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009322 name: Bracket epiphysis of the middle phalanx of the 3rd finger def: "An abnormality of the middle phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators] synonym: "Bracket shaped end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024443 is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009411 ! Bracket epiphyses of the 3rd finger is_a: HP:0010258 ! Bracket epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009323 name: Cone-shaped epiphysis of the middle phalanx of the 3rd finger def: "A cone-shaped appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] synonym: "Cone-shaped end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024442 is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009412 ! Cone-shaped epiphyses of the 3rd finger is_a: HP:0010259 ! Cone-shaped epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009324 name: Enlarged epiphysis of the middle phalanx of the 3rd finger def: "Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms." [HPO:curators] synonym: "Enlarged end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024441 is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009413 ! Enlarged epiphyses of the 3rd finger is_a: HP:0010260 ! Enlarged epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009325 name: Fragmentation of the epiphysis of the middle phalanx of the 3rd finger def: "Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger." [HPO:curators] synonym: "Fragmentation of end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024440 is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009414 ! Fragmentation of the epiphyses of the 3rd finger is_a: HP:0010261 ! Fragmentation of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009326 name: Irregular epiphysis of the middle phalanx of the 3rd finger def: "Irregular radiographic opacity of the epiphysis of the middle phalanx of the 3rd finger." [HPO:curators] synonym: "Irregular end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024439 is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009415 ! Irregular epiphyses of the 3rd finger is_a: HP:0010262 ! Irregular epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009327 name: Ivory epiphysis of the middle phalanx of the 3rd finger def: "Sclerosis of the epiphysis of the middle phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] synonym: "Increased bone density of end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024438 is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009416 ! Ivory epiphyses of the 3rd finger is_a: HP:0010263 ! Ivory epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009328 name: Pseudoepiphysis of the middle phalanx of the 3rd finger alt_id: HP:0004176 def: "A secondary ossification center in the middle phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators] synonym: "Pseudoepiphyses of middle phalanx of middle-finger" EXACT [] xref: UMLS:C4021491 is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009417 ! Pseudoepiphyses of the 3rd finger is_a: HP:0010264 ! Pseudoepiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009329 name: Small epiphysis of the middle phalanx of the 3rd finger def: "Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms." [HPO:curators] synonym: "Small end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024437 is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009418 ! Small epiphyses of the 3rd finger is_a: HP:0010265 ! Small epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009330 name: Stippling of the epiphysis of the middle phalanx of the 3rd finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger." [HPO:curators] synonym: "Speckled calcifications in end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024436 is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009419 ! Stippling of the epiphyses of the 3rd finger is_a: HP:0010266 ! Stippling of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009331 name: Triangular epiphysis of the middle phalanx of the 3rd finger def: "A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the middle phalanx of the 3rd finger" EXACT [] synonym: "Triangular end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021490 is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009420 ! Triangular epiphyses of the 3rd finger is_a: HP:0010267 ! Triangular epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009332 name: Abnormality of the epiphysis of the distal phalanx of the 3rd finger synonym: "Abnormality of the end part of the outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024435 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger created_by: doelkens creation_date: 2009-01-12T11:16:06Z [Term] id: HP:0009333 name: Abnormality of the epiphysis of the proximal phalanx of the 3rd finger synonym: "Abnormality of the end part of the innermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024434 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:16:44Z [Term] id: HP:0009334 name: Abnormality of the epiphysis of the middle phalanx of the 3rd finger synonym: "Abnormality of the end part of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024433 is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:16:44Z [Term] id: HP:0009335 name: Absent epiphysis of the distal phalanx of the 3rd finger def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger." [HPO:curators] synonym: "Absent end part of the outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024432 is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009410 ! Absent epiphyses of the 3rd finger is_a: HP:0010246 ! Absent epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009336 name: Bracket epiphysis of the distal phalanx of the 3rd finger def: "An abnormality of the distal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators] synonym: "Bracket shaped end part of the outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024431 is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009411 ! Bracket epiphyses of the 3rd finger is_a: HP:0010247 ! Bracket epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009337 name: Cone-shaped epiphysis of the distal phalanx of the 3rd finger def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] synonym: "Cone-shaped end part of the outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024430 is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009412 ! Cone-shaped epiphyses of the 3rd finger is_a: HP:0010248 ! Cone-shaped epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009338 name: Enlarged epiphysis of the distal phalanx of the 3rd finger def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms." [HPO:curators] synonym: "Enlarged end part of the outermost bone of the 3rd finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024429 is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009413 ! Enlarged epiphyses of the 3rd finger is_a: HP:0010249 ! Enlarged epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009339 name: Fragmentation of the epiphysis of the distal phalanx of the 3rd finger def: "Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger." [HPO:curators] synonym: "Fragmentation of end part of the outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024428 is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009414 ! Fragmentation of the epiphyses of the 3rd finger is_a: HP:0010250 ! Fragmentation of the epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009340 name: Irregular epiphysis of the distal phalanx of the 3rd finger def: "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger." [HPO:curators] synonym: "Irregular end part of the outermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024427 is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009415 ! Irregular epiphyses of the 3rd finger is_a: HP:0010251 ! Irregular epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009341 name: Ivory epiphysis of the distal phalanx of the 3rd finger def: "Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] synonym: "Increased bone density of end part of the outermost middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024426 is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009416 ! Ivory epiphyses of the 3rd finger is_a: HP:0010252 ! Ivory epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009342 name: Pseudoepiphysis of the distal phalanx of the 3rd finger def: "A secondary ossification center in the distal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators] synonym: "Pseudoepiphysis of the outermost bone of the middle finger" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4024425 is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009417 ! Pseudoepiphyses of the 3rd finger is_a: HP:0010253 ! Pseudoepiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009343 name: Small epiphysis of the distal phalanx of the 3rd finger def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms." [HPO:curators] synonym: "Small end part of the outermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024424 is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009418 ! Small epiphyses of the 3rd finger is_a: HP:0010254 ! Small epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009344 name: Stippling of the epiphysis of the distal phalanx of the 3rd finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 3rd finger." [HPO:curators] synonym: "Speckled calcifications in end part of the outermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024423 is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009419 ! Stippling of the epiphyses of the 3rd finger is_a: HP:0010255 ! Stippling of the epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009345 name: Triangular epiphysis of the distal phalanx of the 3rd finger def: "A triangular appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the distal phalanx of the 3rd finger" EXACT [] synonym: "Triangular end part of the outermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021489 is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009420 ! Triangular epiphyses of the 3rd finger is_a: HP:0010256 ! Triangular epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009346 name: Absent epiphysis of the proximal phalanx of the 3rd finger def: "Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger." [HPO:curators] synonym: "Absent end part of innermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024422 is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009410 ! Absent epiphyses of the 3rd finger is_a: HP:0010268 ! Absent epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009347 name: Bracket epiphysis of the proximal phalanx of the 3rd finger def: "An abnormality of the proximal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators] synonym: "Bracket shaped end part of innermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024421 is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009411 ! Bracket epiphyses of the 3rd finger is_a: HP:0010269 ! Bracket epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009348 name: Cone-shaped epiphysis of the proximal phalanx of the 3rd finger def: "A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] synonym: "Cone-shaped end part of the innermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024420 is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009412 ! Cone-shaped epiphyses of the 3rd finger is_a: HP:0010270 ! Cone-shaped epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009349 name: Enlarged epiphysis of the proximal phalanx of the 3rd finger alt_id: HP:0004171 def: "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms." [HPO:curators] synonym: "Enlarged end part of innermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Large epiphysis of proximal middle-finger phalanx" EXACT [] xref: UMLS:C4021488 is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009413 ! Enlarged epiphyses of the 3rd finger is_a: HP:0010271 ! Enlarged epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009350 name: Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger def: "Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger." [HPO:curators] synonym: "Fragmentation of end part of innermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024419 is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009414 ! Fragmentation of the epiphyses of the 3rd finger is_a: HP:0010272 ! Fragmentation of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009351 name: Irregular epiphysis of the proximal phalanx of the 3rd finger def: "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger." [HPO:curators] synonym: "Irregular end part of innermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024418 is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009415 ! Irregular epiphyses of the 3rd finger is_a: HP:0010273 ! Irregular epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009352 name: Ivory epiphysis of the proximal phalanx of the 3rd finger def: "Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] synonym: "Increased bone density of end part of the innermost middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024417 is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009416 ! Ivory epiphyses of the 3rd finger is_a: HP:0010274 ! Ivory epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009353 name: Pseudoepiphysis of the proximal phalanx of the 3rd finger def: "A secondary ossification center in the proximal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators] xref: UMLS:C4024416 is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009417 ! Pseudoepiphyses of the 3rd finger is_a: HP:0010275 ! Pseudoepiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009354 name: Small epiphysis of the proximal phalanx of the 3rd finger def: "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms." [HPO:curators] synonym: "Small end part of innermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024415 is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009418 ! Small epiphyses of the 3rd finger is_a: HP:0010276 ! Small epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009355 name: Stippling of the epiphysis of the proximal phalanx of the 3rd finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 3rd finger." [HPO:curators] synonym: "Speckled calcifications in end part of innermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024414 is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009419 ! Stippling of the epiphyses of the 3rd finger is_a: HP:0010277 ! Stippling of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009356 name: Triangular epiphysis of the proximal phalanx of the 3rd finger def: "A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the proximal phalanx of the 3rd finger" EXACT [] synonym: "Triangular end part of innermost long bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021487 is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009420 ! Triangular epiphyses of the 3rd finger is_a: HP:0010278 ! Triangular epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009357 name: Abnormality of the distal phalanx of the 3rd finger alt_id: HP:0004179 synonym: "Abnormality of terminal phalanx of middle-finger" EXACT [] synonym: "Abnormality of the outermost bone of the 3rd finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021486 is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology created_by: doelkens creation_date: 2009-01-12T11:40:58Z [Term] id: HP:0009358 name: Abnormality of the proximal phalanx of the 3rd finger alt_id: HP:0004167 synonym: "Abnormal innermost bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of proximal middle-finger phalanx" EXACT [] xref: UMLS:C4021485 is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology created_by: doelkens creation_date: 2009-01-12T11:42:37Z [Term] id: HP:0009370 name: Type A brachydactyly xref: UMLS:C4024413 is_a: HP:0001156 ! Brachydactyly created_by: doelkens creation_date: 2009-01-13T10:50:19Z [Term] id: HP:0009371 name: Type A1 brachydactyly xref: MSH:C537088 xref: SNOMEDCT_US:715720006 xref: UMLS:C1862151 is_a: HP:0009370 ! Type A brachydactyly created_by: doelkens creation_date: 2009-01-13T10:50:19Z [Term] id: HP:0009372 name: Type A2 brachydactyly synonym: "Short index fingers and second toes" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:C537089 xref: UMLS:C1832702 is_a: HP:0009370 ! Type A brachydactyly created_by: doelkens creation_date: 2009-01-13T10:50:19Z [Term] id: HP:0009373 name: Type C brachydactyly xref: MSH:C537093 xref: UMLS:C1862103 is_a: HP:0001156 ! Brachydactyly created_by: doelkens creation_date: 2009-01-13T10:50:19Z [Term] id: HP:0009374 name: Broad phalanges of the 5th finger def: "Increased width of the phalanges of the 5th finger." [HPO:curators] synonym: "Broad little finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Broad pinkie finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Broad pinky finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024412 is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology is_a: HP:0009768 ! Broad phalanges of the hand created_by: doelkens creation_date: 2009-01-13T10:55:04Z [Term] id: HP:0009375 name: Bullet-shaped phalanges of the 5th finger def: "A fifth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:curators] synonym: "Bullet-shaped little finger bones" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Bullet-shaped pinkie finger bones" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Bullet-shaped pinky finger bones" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024411 is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology is_a: HP:0009769 ! Bullet-shaped phalanges of the hand created_by: doelkens creation_date: 2009-01-13T10:58:05Z [Term] id: HP:0009376 name: Aplasia/Hypoplasia of the phalanges of the 5th finger def: "Aplasia/Hypoplasia of the phalanges of the 5th finger." [HPO:curators] synonym: "Absent/small little finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/small pinkie finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/small pinky finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped pinky finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024410 is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T11:58:25Z [Term] id: HP:0009377 name: Patchy sclerosis of 5th finger phalanx def: "Uneven increase in bone density of one or more of the phalanges of the 5th finger." [HPO:probinson] synonym: "Patchy sclerosis of the phalanges of the 5th finger" EXACT [] synonym: "Uneven increase in bone density in little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Uneven increase in bone density in pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Uneven increase in bone density in pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021484 is_a: HP:0009772 ! Patchy sclerosis of finger phalanx is_a: HP:0100921 ! Sclerosis of 5th finger phalanx created_by: doelkens creation_date: 2009-01-13T12:00:02Z [Term] id: HP:0009378 name: Triangular shaped phalanges of the 5th finger def: "Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] synonym: "Triangular shaped little finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular shaped pinkie finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular shaped pinky finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024409 is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology is_a: HP:0009774 ! Triangular shaped phalanges of the hand created_by: doelkens creation_date: 2009-01-13T12:00:35Z [Term] id: HP:0009379 name: Rhomboid or triangular shaped 5th finger distal phalanx def: "Rhomboid or triangular shaped 5th (little) finger distal phalanx." [HPO:curators] synonym: "Rhomboid or triangular shaped little finger bone" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Rhomboid or triangular shaped pinkie finger bone" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Rhomboid or triangular shaped pinky finger bone" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024408 is_a: HP:0009245 ! Triangular shaped distal phalanx of the 5th finger created_by: doelkens creation_date: 2009-01-13T01:01:44Z [Term] id: HP:0009380 name: Aplasia of the fingers alt_id: HP:0004093 def: "Aplasia of one or more fingers." [HPO:curators] synonym: "Absent fingers" EXACT layperson [] xref: SNOMEDCT_US:71358006 xref: UMLS:C0728895 is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers created_by: doelkens creation_date: 2009-01-13T01:05:32Z [Term] id: HP:0009381 name: Short finger alt_id: HP:0004098 alt_id: HP:0006015 def: "Abnormally short finger associated with developmental hypoplasia." [HPO:probinson] subset: hposlim_core synonym: "Hypoplastic digits" EXACT [] synonym: "Hypoplastic fingers" EXACT [] synonym: "Hypoplastic/small fingers" EXACT [] synonym: "Short finger" EXACT layperson [] synonym: "Stubby finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Stubby fingers" EXACT layperson [] xref: SNOMEDCT_US:249765007 xref: UMLS:C0239594 xref: UMLS:C1844548 is_a: HP:0005922 ! Abnormal hand morphology is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers is_a: HP:0011927 ! Short digit created_by: doelkens creation_date: 2009-01-13T01:07:38Z [Term] id: HP:0009382 name: Absent epiphyses of the 5th finger def: "Absence of one or more epiphyses of the 5th finger." [HPO:curators] synonym: "Absent end part of little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent end part of pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent end part of pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024407 is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009383 name: Bracket epiphyses of the 5th finger def: "An abnormality of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators] synonym: "Bracket shaped end part of little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bracket shaped end part of pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bracket shaped end part of pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024406 is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009384 name: Cone-shaped epiphyses of the 5th finger def: "A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:curators] synonym: "Cone-shaped end part of the little finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cone-shaped end part of the pinkie finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cone-shaped end part of the pinky finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024405 is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009385 name: Enlarged epiphyses of the 5th finger def: "Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms." [HPO:curators] synonym: "Enlarged end part of the little finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Enlarged end part of the pinkie finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Enlarged end part of the pinky finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024404 is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009386 name: Fragmentation of the epiphyses of the 5th finger def: "Fragmented appearance of the epiphyses of the 5th finger." [HPO:curators] synonym: "Fragmentation of the end part of the little finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fragmentation of the end part of the pinkie finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fragmentation of the end part of the pinky finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024403 is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009387 name: Irregular epiphyses of the 5th finger def: "Irregular radiographic opacity of the epiphyses of the 5th finger." [HPO:curators] synonym: "Irregular end part of the little finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Irregular end part of the pinkie finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Irregular end part of the pinky finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024402 is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009388 name: Ivory epiphyses of the 5th finger def: "Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] synonym: "Increased bone density of end part of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased bone density of end part of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased bone density of end part of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024401 is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand is_a: HP:0100921 ! Sclerosis of 5th finger phalanx created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009389 name: Pseudoepiphyses of the 5th finger def: "A secondary ossification center in the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators] xref: UMLS:C4024400 is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009390 name: Small epiphyses of the 5th finger def: "Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms." [HPO:curators] synonym: "Small end part of little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Small end part of pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Small end part of pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024399 is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009391 name: Stippling of the epiphyses of the 5th finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger." [HPO:curators] synonym: "Speckled calcifications in end part of little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Speckled calcifications in end part of pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Speckled calcifications in end part of pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024398 is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009392 name: Triangular epiphyses of the 5th finger def: "A triangular appearance of the epiphyses of the 5th finger of the hand." [HPO:curators] synonym: "Delta-shaped epiphyses of the 5th finger" EXACT [] synonym: "Triangular end part of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular end part of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular end part of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021483 is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009393 name: Absent epiphyses of the 4th finger def: "Absence of one or more epiphyses of the 4th finger." [HPO:curators] synonym: "Absent end part of the ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024397 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009394 name: Bracket epiphyses of the 4th finger alt_id: HP:0004192 def: "An abnormality of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators] synonym: "Bracket shaped end part of ring finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024396 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009395 name: Cone-shaped epiphyses of the 4th finger def: "A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:curators] synonym: "Cone-shaped end part of the ring finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024395 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009396 name: Enlarged epiphyses of the 4th finger def: "Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms." [HPO:curators] synonym: "Enlarged end part of the ring finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024394 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009397 name: Fragmentation of the epiphyses of the 4th finger def: "Fragmented appearance of the epiphyses of the 4th finger." [HPO:curators] synonym: "Fragmentation of the end part of the ring finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024393 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009398 name: Irregular epiphyses of the 4th finger def: "Irregular radiographic opacity of the epiphyses of the 4th finger." [HPO:curators] synonym: "Irregular end part of the ring finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024392 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009399 name: Ivory epiphyses of the 4th finger def: "Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] synonym: "Increased bone density of end part of the ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024391 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand is_a: HP:0100920 ! Sclerosis of 4th finger phalanx created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009400 name: Pseudoepiphyses of the 4th finger def: "A secondary ossification center in the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators] xref: UMLS:C4024390 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009401 name: Small epiphyses of the 4th finger def: "Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms." [HPO:curators] synonym: "Small end part of ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024389 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009402 name: Stippling of the epiphyses of the 4th finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger." [HPO:curators] synonym: "Speckled calcifications in end part of ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024388 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009403 name: Triangular epiphyses of the 4th finger def: "A triangular appearance of the epiphyses of the 4th finger of the hand." [HPO:curators] synonym: "Delta-shaped epiphyses of the 4th finger" EXACT [] synonym: "Triangular end part of ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021482 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009404 name: Broad phalanges of the 4th finger def: "Increased width of the phalanges of the 4th finger." [HPO:curators] synonym: "Broad bones of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024387 is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology is_a: HP:0009768 ! Broad phalanges of the hand created_by: doelkens creation_date: 2009-01-13T02:37:29Z [Term] id: HP:0009405 name: Bullet-shaped phalanges of the 4th finger def: "A fourth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:curators] synonym: "Bullet-shaped of bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024386 is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology is_a: HP:0009769 ! Bullet-shaped phalanges of the hand created_by: doelkens creation_date: 2009-01-13T02:37:29Z [Term] id: HP:0009406 name: Patchy sclerosis of 4th finger phalanx def: "Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger." [HPO:probinson] synonym: "Patchy sclerosis of the phalanges of the 4th finger" EXACT [] synonym: "Uneven increase in bone density in ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021481 is_a: HP:0009772 ! Patchy sclerosis of finger phalanx is_a: HP:0100920 ! Sclerosis of 4th finger phalanx created_by: doelkens creation_date: 2009-01-13T02:37:29Z [Term] id: HP:0009407 name: Triangular shaped phalanges of the 4th finger def: "Triangular shaped phalanges of the 4th finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] synonym: "Triangular shaped bone of ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024385 is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology is_a: HP:0009774 ! Triangular shaped phalanges of the hand created_by: doelkens creation_date: 2009-01-13T02:37:29Z [Term] id: HP:0009408 name: Aplasia/Hypoplasia of the phalanges of the 4th finger synonym: "Absent/small ring finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped ring finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024384 is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T02:37:29Z [Term] id: HP:0009410 name: Absent epiphyses of the 3rd finger def: "Absence of the epiphyses of the 3rd finger." [HPO:curators] synonym: "Absent end part of middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024383 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009411 name: Bracket epiphyses of the 3rd finger def: "An abnormality of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators] synonym: "Bracket shaped end part of middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024382 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009412 name: Cone-shaped epiphyses of the 3rd finger def: "A cone-shaped appearance of the epiphyses of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:curators] synonym: "Cone-shaped end part of middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024381 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009413 name: Enlarged epiphyses of the 3rd finger def: "Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms." [HPO:curators] synonym: "Enlarged end part of middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024380 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009414 name: Fragmentation of the epiphyses of the 3rd finger def: "Fragmented appearance of the epiphyses of the 3rd finger." [HPO:curators] synonym: "Fragmentation of end part of middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024379 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009415 name: Irregular epiphyses of the 3rd finger def: "Irregular radiographic opacity of the epiphyses of the 3rd finger." [HPO:curators] synonym: "Irregular end part of middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024378 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009416 name: Ivory epiphyses of the 3rd finger def: "Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] synonym: "Increased bone density of end part of the middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024377 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand is_a: HP:0100919 ! Sclerosis of 3rd finger phalanx created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009417 name: Pseudoepiphyses of the 3rd finger alt_id: HP:0004163 def: "A secondary ossification center in the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators] synonym: "Pseudoepiphyses of middle finger phalanges" EXACT [] xref: UMLS:C4021480 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009418 name: Small epiphyses of the 3rd finger def: "Abnormally small size of the epiphyses of the 3rd finger with respect to age-dependent norms." [HPO:curators] synonym: "Small end part of middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024376 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009419 name: Stippling of the epiphyses of the 3rd finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger." [HPO:curators] synonym: "Speckled calcifications in end part of middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024375 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009420 name: Triangular epiphyses of the 3rd finger def: "A triangular appearance of the epiphyses of the 3rd finger of the hand." [HPO:curators] synonym: "Delta-shaped epiphyses of the 3rd finger" EXACT [] synonym: "Triangular end part of middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021479 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009421 name: Aplasia/Hypoplasia of the distal phalanx of the 3rd finger synonym: "Absent/small outermost middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped outermost middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024374 is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009447 ! Aplasia/Hypoplasia of the phalanges of the 3rd finger created_by: doelkens creation_date: 2009-01-14T03:16:46Z [Term] id: HP:0009422 name: Broad distal phalanx of the 3rd finger def: "Increased width of the distal phalanx of the 3rd finger." [HPO:curators] synonym: "Broad outermost bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024373 is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009440 ! Broad phalanges of the 3rd finger is_a: HP:0009836 ! Broad distal phalanx of finger created_by: doelkens creation_date: 2009-01-14T03:16:46Z [Term] id: HP:0009423 name: Bullet-shaped distal phalanx of the 3rd finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 3rd finger is affected." [HPO:curators] synonym: "Bullet-shaped outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024372 is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009441 ! Bullet-shaped phalanges of the 3rd finger is_a: HP:0009837 ! Bullet-shaped distal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:16:46Z [Term] id: HP:0009424 name: Osteolytic defects of the distal phalanx of the 3rd finger alt_id: HP:0004181 def: "Dissolution or degeneration of bone tissue of the distal phalanx of the 3rd finger." [HPO:curators] synonym: "Lytic defect of terminal phalanx of middle finger" EXACT [] xref: UMLS:C4021478 is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009443 ! Osteolytic defects of the phalanges of the 3rd finger is_a: HP:0009839 ! Osteolytic defects of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:16:46Z [Term] id: HP:0009425 name: Patchy sclerosis of the distal phalanx of the 3rd finger def: "Uneven (irregular) increase in bone density of the distal phalanx of the third finger." [HPO:probinson] synonym: "Uneven increase in bone density in the outermost bone of the 3rd finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024371 is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009444 ! Patchy sclerosis of 3rd finger phalanx is_a: HP:0009840 ! Patchy sclerosis of distal phalanx of finger is_a: HP:0100901 ! Sclerosis of the distal phalanx of the 3rd finger created_by: doelkens creation_date: 2009-01-14T03:16:46Z [Term] id: HP:0009426 name: Distal/middle symphalangism of 3rd finger alt_id: HP:0009479 alt_id: HP:0009480 def: "Fusion of the terminal/distal and middle phalanges of the 3rd finger." [HPO:curators] synonym: "Fused outermost and middle bones of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Symphalangism of the distal and middle phalanges of the 3rd finger" EXACT [] xref: UMLS:C4021477 is_a: HP:0001204 ! Distal symphalangism of hands is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009435 ! Symphalangism of middle phalanx of 3rd finger created_by: doelkens creation_date: 2009-01-14T03:16:46Z [Term] id: HP:0009427 name: Triangular shaped distal phalanx of the 3rd finger def: "Triangular shaped distal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] synonym: "Triangular shaped outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024370 is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009446 ! Triangular shaped phalanges of the 3rd finger is_a: HP:0009875 ! Triangular shaped distal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:16:46Z [Term] id: HP:0009428 name: Curved distal phalanx of the 3rd finger def: "Curved appearance of the distal phalanx of the 3rd finger." [HPO:curators] synonym: "Curved outermost bone of the 3rd finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024369 is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009442 ! Curved phalanges of the 3rd finger is_a: HP:0009838 ! Curved distal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:16:46Z [Term] id: HP:0009429 name: Aplasia of the distal phalanx of the 3rd finger def: "Absence of the distal phalanx of the middle (3rd) finger." [HPO:curators] synonym: "Absent of the outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024368 is_a: HP:0009421 ! Aplasia/Hypoplasia of the distal phalanx of the 3rd finger is_a: HP:0009460 ! Aplasia of the 3rd finger is_a: HP:0009881 ! Aplasia of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:18:42Z [Term] id: HP:0009430 name: Broad middle phalanx of the 3rd finger alt_id: HP:0004178 def: "Increased width of the middle phalanx of the 3rd finger." [HPO:curators] synonym: "Broad middle bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide/broad middle phalanx of middle-finger" EXACT [] xref: UMLS:C4021476 is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009440 ! Broad phalanges of the 3rd finger is_a: HP:0009844 ! Broad middle phalanx of finger created_by: doelkens creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009431 name: Bullet-shaped middle phalanx of the 3rd finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 3rd finger is affected." [HPO:curators] synonym: "Bullet-shaped middle bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024367 is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009441 ! Bullet-shaped phalanges of the 3rd finger is_a: HP:0009845 ! Bullet-shaped middle phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009432 name: Curved middle phalanx of the 3rd finger def: "Curved appearance of the middle phalanx of the 3rd (middle) finger." [HPO:curators] synonym: "Curved middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024366 is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009442 ! Curved phalanges of the 3rd finger is_a: HP:0009846 ! Curved middle phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009433 name: Osteolytic defects of the middle phalanx of the 3rd finger def: "Dissolution or degeneration of bone tissue of the middle phalanx of the 3rd finger." [HPO:curators] xref: UMLS:C4024365 is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009443 ! Osteolytic defects of the phalanges of the 3rd finger is_a: HP:0009847 ! Osteolytic defects of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009434 name: Patchy sclerosis of the middle phalanx of the 3rd finger def: "Uneven (irregular) increase in bone density of the middle phalanx of the third finger." [HPO:probinson] synonym: "Uneven increase in bone density in the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024364 is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009444 ! Patchy sclerosis of 3rd finger phalanx is_a: HP:0009848 ! Patchy sclerosis of middle phalanx of finger is_a: HP:0100905 ! Sclerosis of the middle phalanx of the 3rd finger created_by: doelkens creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009435 name: Symphalangism of middle phalanx of 3rd finger def: "Fusion of the middle phalanx of the 3rd finger with another bone." [HPO:curators] synonym: "Fused middle bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024363 is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009445 ! Symphalangism of the 3rd finger is_a: HP:0009849 ! Symphalangism of middle phalanx of finger created_by: doelkens creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009436 name: Triangular shaped middle phalanx of the 3rd finger def: "Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] synonym: "Triangular shaped middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024362 is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009446 ! Triangular shaped phalanges of the 3rd finger is_a: HP:0009850 ! Triangular shaped middle phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009437 name: Aplasia/Hypoplasia of the middle phalanx of the 3rd finger synonym: "Absent/small middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024361 is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009447 ! Aplasia/Hypoplasia of the phalanges of the 3rd finger created_by: doelkens creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009438 name: Absent middle phalanx of 3rd finger alt_id: HP:0004173 def: "Absence of the middle phalanx of the middle (3rd) finger." [HPO:sdoelken] synonym: "Absent middle bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent middle phalanx of middle finger" EXACT [] synonym: "Aplasia of the middle phalanx of the 3rd finger" EXACT [] xref: UMLS:C4021475 is_a: HP:0009437 ! Aplasia/Hypoplasia of the middle phalanx of the 3rd finger is_a: HP:0009460 ! Aplasia of the 3rd finger is_a: HP:0010239 ! Aplasia of the middle phalanx of the hand created_by: doelkens creation_date: 2009-01-14T03:45:02Z [Term] id: HP:0009439 name: Short middle phalanx of the 3rd finger alt_id: HP:0004177 alt_id: HP:0006212 def: "Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger." [HPO:sdoelken] synonym: "Hypoplastic/small middle phalanx of the 3rd finger" EXACT [] synonym: "Short middle bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021474 is_a: HP:0005819 ! Short middle phalanx of finger is_a: HP:0009437 ! Aplasia/Hypoplasia of the middle phalanx of the 3rd finger is_a: HP:0009461 ! Short 3rd finger created_by: doelkens creation_date: 2009-01-14T03:45:02Z [Term] id: HP:0009440 name: Broad phalanges of the 3rd finger alt_id: HP:0004166 def: "Increased width of the phalanges of the 3rd finger." [HPO:curators] synonym: "Wide bones of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide/broad middle finger phalanges" EXACT [] xref: UMLS:C4021473 is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology is_a: HP:0009768 ! Broad phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:09:01Z [Term] id: HP:0009441 name: Bullet-shaped phalanges of the 3rd finger def: "A third finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:curators] synonym: "Bullet-shaped bones of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024360 is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology is_a: HP:0009769 ! Bullet-shaped phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:09:01Z [Term] id: HP:0009442 name: Curved phalanges of the 3rd finger def: "Curved appearance of the phalanges of the 3rd finger." [HPO:curators] synonym: "Curved bones of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024359 is_a: HP:0004095 ! Curved fingers is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology is_a: HP:0009770 ! Curved phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:09:01Z [Term] id: HP:0009443 name: Osteolytic defects of the phalanges of the 3rd finger alt_id: HP:0004159 def: "Dissolution or degeneration of bone tissue of the phalanges of the 3rd finger." [HPO:curators] synonym: "Lytic defects of middle finger phalanges" EXACT [] xref: UMLS:C4021472 is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:09:01Z [Term] id: HP:0009444 name: Patchy sclerosis of 3rd finger phalanx alt_id: HP:0004160 def: "Uneven (irregular) increase in bone density of one or more of the phalanges of the third finger." [HPO:probinson] synonym: "Patchy sclerosis of middle finger phalanges" EXACT [] synonym: "Patchy sclerosis of the phalanges of the 3rd finger" EXACT [] synonym: "Uneven increase in bone density in middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021471 is_a: HP:0009772 ! Patchy sclerosis of finger phalanx is_a: HP:0100919 ! Sclerosis of 3rd finger phalanx created_by: doelkens creation_date: 2009-01-14T04:09:01Z [Term] id: HP:0009445 name: Symphalangism of the 3rd finger def: "Fusion of two or more bones of the 3rd finger." [HPO:curators] synonym: "Fused middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024358 is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology is_a: HP:0009700 ! Finger symphalangism is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:09:01Z [Term] id: HP:0009446 name: Triangular shaped phalanges of the 3rd finger def: "Triangular shaped phalanges of the 3rd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] synonym: "Triangular shaped bone of the middle finger" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024357 is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology is_a: HP:0009774 ! Triangular shaped phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:09:01Z [Term] id: HP:0009447 name: Aplasia/Hypoplasia of the phalanges of the 3rd finger alt_id: HP:0004156 alt_id: HP:0004158 alt_id: HP:0004164 alt_id: HP:0004165 alt_id: HP:0009449 synonym: "Absent/small middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hypoplastic middle finger phalanges" EXACT [] synonym: "Short middle finger phalanges" EXACT [] synonym: "Small middle finger phalanges" EXACT [] xref: UMLS:C4024356 is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:09:01Z [Term] id: HP:0009448 name: obsolete Aplasia of the phalanges of the 3rd finger is_obsolete: true consider: HP:0009447 [Term] id: HP:0009449 name: obsolete Hypoplastic/small phalanges of the 3rd finger is_obsolete: true replaced_by: HP:0009447 [Term] id: HP:0009450 name: Broad proximal phalanx of the 3rd finger def: "Increased width of the proximal phalanx of the 3rd finger." [HPO:curators] synonym: "Broad innermost bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024355 is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009440 ! Broad phalanges of the 3rd finger is_a: HP:0009852 ! Broad proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:33:41Z [Term] id: HP:0009451 name: Bullet-shaped proximal phalanx of the 3rd finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 3rd finger is affected." [HPO:curators] synonym: "Bullet-shaped innermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024354 is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009441 ! Bullet-shaped phalanges of the 3rd finger is_a: HP:0009853 ! Bullet-shaped proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:33:41Z [Term] id: HP:0009452 name: Curved proximal phalanx of the 3rd finger def: "Curved appearance of the proximal phalanx of the 3rd finger." [HPO:curators] synonym: "Curved innermost bone of middle finger" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024353 is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009442 ! Curved phalanges of the 3rd finger is_a: HP:0009854 ! Curved proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:33:41Z [Term] id: HP:0009453 name: Osteolytic defects of the proximal phalanx of the 3rd finger def: "Dissolution or degeneration of bone tissue of the proximal phalanx of the 3rd finger." [HPO:curators] xref: UMLS:C4024352 is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009443 ! Osteolytic defects of the phalanges of the 3rd finger is_a: HP:0009855 ! Osteolytic defects of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:33:41Z [Term] id: HP:0009454 name: Patchy sclerosis of the proximal phalanx of the 3rd finger def: "Uneven (irregular) increase in bone density of the proximal phalanx of the third finger." [HPO:probinson] synonym: "Uneven increase in bone density in the innermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024351 is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009444 ! Patchy sclerosis of 3rd finger phalanx is_a: HP:0009856 ! Patchy sclerosis of proximal phalanx of finger is_a: HP:0100909 ! Sclerosis of the proximal phalanx of the 3rd finger created_by: doelkens creation_date: 2009-01-14T04:33:41Z [Term] id: HP:0009455 name: Symphalangism affecting the proximal phalanx of the 3rd finger def: "Fusion of the proximal phalanx of the 3rd finger with another bone." [HPO:curators] synonym: "Fused innermost bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024350 is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009445 ! Symphalangism of the 3rd finger is_a: HP:0009857 ! Symphalangism affecting the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:33:41Z [Term] id: HP:0009456 name: Triangular shaped proximal phalanx of the 3rd finger def: "Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] synonym: "Triangular shaped innermost bone of middle finger" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024349 is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009446 ! Triangular shaped phalanges of the 3rd finger is_a: HP:0009858 ! Triangular shaped proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:33:41Z [Term] id: HP:0009457 name: Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger synonym: "Absent/small innermost bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped innermost bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024348 is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009447 ! Aplasia/Hypoplasia of the phalanges of the 3rd finger created_by: doelkens creation_date: 2009-01-14T04:34:45Z [Term] id: HP:0009458 name: Aplasia of the proximal phalanx of the 3rd finger def: "Absence of the proximal phalanx of the 3rd finger." [HPO:curators] synonym: "Absent innermost bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024347 is_a: HP:0009457 ! Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger is_a: HP:0009460 ! Aplasia of the 3rd finger is_a: HP:0010242 ! Aplasia of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:35:28Z [Term] id: HP:0009459 name: Short proximal phalanx of the 3rd finger alt_id: HP:0004169 alt_id: HP:0004170 def: "Hypoplasia (congenital reduction in size) of the proximal phalanx of the third finger." [HPO:sdoelken] synonym: "Hypoplastic/small proximal phalanx of the 3rd finger" EXACT [] synonym: "Short innermost bone of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short proximal middle-finger phalanx" EXACT [] synonym: "Short proximal phalanx of the third finger" EXACT [] synonym: "Small proximal middle-finger phalanx" EXACT [] xref: UMLS:C4021470 is_a: HP:0009457 ! Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger is_a: HP:0009461 ! Short 3rd finger is_a: HP:0010241 ! Short proximal phalanx of finger created_by: doelkens creation_date: 2009-01-14T04:35:28Z [Term] id: HP:0009460 name: Aplasia of the 3rd finger def: "Absent 3rd finger." [HPO:curators] synonym: "Absent middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024346 is_a: HP:0009318 ! Aplasia/Hypoplasia of the 3rd finger is_a: HP:0009380 ! Aplasia of the fingers created_by: doelkens creation_date: 2009-01-14T04:56:33Z [Term] id: HP:0009461 name: Short 3rd finger alt_id: HP:0004154 def: "Hypoplastic/small 3rd (middle) finger." [HPO:sdoelken] synonym: "Hypoplastic/small 3rd finger" EXACT [] synonym: "Short 3rd finger" EXACT layperson [] synonym: "Short middle finger" EXACT layperson [] xref: UMLS:C4021469 is_a: HP:0009318 ! Aplasia/Hypoplasia of the 3rd finger is_a: HP:0009381 ! Short finger created_by: doelkens creation_date: 2009-01-14T04:57:43Z [Term] id: HP:0009462 name: Radial deviation of the 3rd finger def: "Displacement of the 3rd finger towards the radial side (i.e., towards the thumb)." [HPO:sdoelken] synonym: "Inward turned middle finger" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024345 is_a: HP:0009317 ! Deviation of the 3rd finger is_a: HP:0009466 ! Radial deviation of finger created_by: doelkens creation_date: 2009-01-15T09:35:10Z [Term] id: HP:0009463 name: Ulnar deviation of the 3rd finger alt_id: HP:0005865 alt_id: HP:0006022 def: "Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger)." [HPO:sdoelken] synonym: "Ulnar deviation of middle fingers" EXACT [] xref: UMLS:C3554614 is_a: HP:0009317 ! Deviation of the 3rd finger is_a: HP:0009465 ! Ulnar deviation of finger created_by: doelkens creation_date: 2009-01-15T09:35:47Z [Term] id: HP:0009464 name: Ulnar deviation of the 2nd finger alt_id: HP:0004102 alt_id: HP:0005811 def: "Displacement of the 2nd (index) finger towards the ulnar side." [HPO:curators] synonym: "Medially deviated index finger" EXACT [] synonym: "Second finger ulnar deviation" EXACT [] synonym: "Ulnar angulation of the index finger" EXACT [] synonym: "Ulnar deviation of index fingers" EXACT [] xref: UMLS:C1844891 is_a: HP:0009465 ! Ulnar deviation of finger is_a: HP:0009468 ! Deviation of the 2nd finger created_by: doelkens creation_date: 2009-01-15T09:37:48Z [Term] id: HP:0009465 name: Ulnar deviation of finger alt_id: HP:0001200 alt_id: HP:0004096 def: "Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly." [HPO:probinson, pmid:19125433] subset: hposlim_core synonym: "Finger bends toward pinky" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] synonym: "Ulnar Drift" EXACT [] xref: SNOMEDCT_US:276662009 xref: SNOMEDCT_US:367510009 xref: UMLS:C0231679 is_a: HP:0001193 ! Ulnar deviation of the hand or of fingers of the hand is_a: HP:0004097 ! Deviation of finger created_by: doelkens creation_date: 2009-01-15T09:39:43Z [Term] id: HP:0009466 name: Radial deviation of finger alt_id: HP:0001157 alt_id: HP:0001213 alt_id: HP:0001503 def: "Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly." [HPO:probinson, pmid:19125433] subset: hposlim_core synonym: "Radially deviated fingers" EXACT [] synonym: "Radially deviated phalanges" EXACT [] xref: UMLS:C1836189 is_a: HP:0004097 ! Deviation of finger is_a: HP:0009485 ! Radial deviation of the hand or of fingers of the hand created_by: doelkens creation_date: 2009-01-15T09:40:27Z [Term] id: HP:0009467 name: Radial deviation of the 2nd finger alt_id: HP:0004103 alt_id: HP:0006053 def: "Displacement of the 2nd finger towards the radial side." [HPO:curators] synonym: "Radially deviated index finger" EXACT [] synonym: "Second finger clinodactyly" EXACT [] xref: UMLS:C1844709 is_a: HP:0009466 ! Radial deviation of finger is_a: HP:0009468 ! Deviation of the 2nd finger created_by: doelkens creation_date: 2009-01-15T09:40:58Z [Term] id: HP:0009468 name: Deviation of the 2nd finger alt_id: HP:0004101 def: "Displacement of the 2nd finger from its normal position." [HPO:curators] synonym: "Deviated index finger" EXACT [] synonym: "Displaced index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021468 is_a: HP:0004097 ! Deviation of finger is_a: HP:0004100 ! Abnormal 2nd finger morphology created_by: doelkens creation_date: 2009-01-15T09:42:36Z [Term] id: HP:0009469 name: Contracture of the distal interphalangeal joint of the 3rd finger def: "Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue." [HPO:probinson] synonym: "Contracture of the outermost hinge joint of the 3rd finger" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024344 is_a: HP:0009319 ! Joint contracture of the 3rd finger is_a: HP:0009697 ! Contracture of the distal interphalangeal joint of the fingers created_by: doelkens creation_date: 2009-01-15T09:50:20Z [Term] id: HP:0009470 name: Contracture of the metacarpophalangeal joint of the 3rd finger def: "Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue." [HPO:curators] xref: UMLS:C4024343 is_a: HP:0009319 ! Joint contracture of the 3rd finger created_by: doelkens creation_date: 2009-01-15T09:50:20Z [Term] id: HP:0009471 name: Contracture of the proximal interphalangeal joint of the 3rd finger def: "Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue." [HPO:curators] synonym: "Camptodactyly of the 3rd finger" EXACT [] synonym: "Camptodactyly of the third finger" EXACT [] xref: UMLS:C4021467 is_a: HP:0009319 ! Joint contracture of the 3rd finger is_a: HP:0100490 ! Camptodactyly of finger created_by: doelkens creation_date: 2009-01-15T09:50:20Z [Term] id: HP:0009473 name: Joint contracture of the hand alt_id: HP:0001160 alt_id: HP:0001237 alt_id: HP:0004094 alt_id: HP:0005814 alt_id: HP:0006096 alt_id: HP:0006173 alt_id: HP:0006215 alt_id: HP:0006238 alt_id: HP:0006255 alt_id: HP:0009409 alt_id: HP:0009472 alt_id: HP:0010563 def: "Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue." [HPO:sdoelken] subset: hposlim_core synonym: "Contractures involving the hands" EXACT [] synonym: "Contractures of the hands" EXACT [] xref: MEDDRA:10010821 "Contracture of hand joint" xref: SNOMEDCT_US:86414002 xref: UMLS:C0158113 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0009810 ! Abnormality of upper limb joint is_a: HP:0100360 ! Contractures of the joints of the upper limbs created_by: doelkens creation_date: 2009-01-15T09:59:59Z [Term] id: HP:0009477 name: Proximal/middle symphalangism of 4th finger alt_id: HP:0009476 def: "Fusion of the proximal and middle phalanges of the 4th finger." [HPO:sdoelken] synonym: "Fused innermost and middle bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024342 is_a: HP:0006152 ! Proximal symphalangism of hands is_a: HP:0009308 ! Symphalangism of middle phalanx of 4th finger is_a: HP:0009314 ! Symphalangism affecting the proximal phalanx of the 4th finger created_by: doelkens creation_date: 2009-01-15T10:24:03Z [Term] id: HP:0009478 name: Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal def: "Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal." [HPO:curators] synonym: "Fused innermost bone of ring finger with 4th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024341 is_a: HP:0005880 ! Metacarpophalangeal synostosis is_a: HP:0009314 ! Symphalangism affecting the proximal phalanx of the 4th finger is_a: HP:0009707 ! Synostosis involving the 4th metacarpal created_by: doelkens creation_date: 2009-01-15T10:24:03Z [Term] id: HP:0009482 name: Proximal/middle symphalangism of 3rd finger alt_id: HP:0009481 def: "Fusion of the proximal and middle phalanges of the 3rd finger." [HPO:curators] synonym: "Fused of innermost and middle bones of middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024340 is_a: HP:0006152 ! Proximal symphalangism of hands is_a: HP:0009435 ! Symphalangism of middle phalanx of 3rd finger is_a: HP:0009455 ! Symphalangism affecting the proximal phalanx of the 3rd finger created_by: doelkens creation_date: 2009-01-15T10:29:08Z [Term] id: HP:0009483 name: Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal def: "Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal." [HPO:curators] synonym: "Fused innermost bones of middle finger with middle long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024339 is_a: HP:0005880 ! Metacarpophalangeal synostosis is_a: HP:0009455 ! Symphalangism affecting the proximal phalanx of the 3rd finger is_a: HP:0009706 ! Synostosis involving the 3rd metacarpal created_by: doelkens creation_date: 2009-01-15T10:29:08Z [Term] id: HP:0009484 name: Deviation of the hand or of fingers of the hand def: "Displacement of the hand or of fingers of the hand from their normal position." [HPO:curators] synonym: "Displaced hand or fingers of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024338 is_a: HP:0001155 ! Abnormality of the hand created_by: doelkens creation_date: 2009-01-15T10:45:01Z [Term] id: HP:0009485 name: Radial deviation of the hand or of fingers of the hand xref: UMLS:C4024337 is_a: HP:0009484 ! Deviation of the hand or of fingers of the hand created_by: doelkens creation_date: 2009-01-15T10:49:51Z [Term] id: HP:0009486 name: Radial deviation of the hand alt_id: HP:0001203 def: "An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb)." [HPO:probinson] subset: hposlim_core synonym: "Radial deviation of hands" EXACT [] xref: SNOMEDCT_US:299035006 xref: UMLS:C0575803 is_a: HP:0009485 ! Radial deviation of the hand or of fingers of the hand created_by: doelkens creation_date: 2009-01-15T10:51:21Z [Term] id: HP:0009487 name: Ulnar deviation of the hand def: "Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger)." [HPO:probinson, pmid:19125433] subset: hposlim_core synonym: "Ulnar deviation of hands" EXACT [HPO:skoehler] synonym: "Ulnar deviation of the hands" EXACT [HPO:skoehler] xref: SNOMEDCT_US:249757009 xref: UMLS:C0241521 is_a: HP:0001193 ! Ulnar deviation of the hand or of fingers of the hand created_by: doelkens creation_date: 2009-01-15T10:51:52Z [Term] id: HP:0009488 name: Absent epiphyses of the 2nd finger def: "Absence of the epiphyses of the 2nd finger." [HPO:curators] synonym: "Absent end part of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024336 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009489 name: Bracket epiphyses of the 2nd finger alt_id: HP:0004109 def: "An abnormality of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators] synonym: "Bracket shaped end part of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bracket-epiphyses of index finger" EXACT [] xref: UMLS:C4021466 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009490 name: Cone-shaped epiphyses of the 2nd finger def: "A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:curators] synonym: "Cone-shaped end part of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024335 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009491 name: Enlarged epiphyses of the 2nd finger def: "Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms." [HPO:curators] synonym: "Enlarged end part of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024334 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009492 name: Fragmentation of the epiphyses of the 2nd finger def: "Fragmented appearance of the epiphyses of the 2nd finger." [HPO:curators] synonym: "Fragmentation of end part of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024333 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009493 name: Irregular epiphyses of the 2nd finger def: "Irregular radiographic opacity of the epiphyses of the 2nd finger." [HPO:curators] synonym: "Irregular end part of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024332 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009494 name: Ivory epiphyses of the 2nd finger def: "Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] synonym: "Increased bone density of end part of the index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024331 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand is_a: HP:0100918 ! Sclerosis of 2nd finger phalanx created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009495 name: Pseudoepiphyses of the 2nd finger alt_id: HP:0004107 alt_id: HP:0006142 def: "A secondary ossification center in the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators] synonym: "Accessory index finger phalanges" EXACT [] xref: UMLS:C4021465 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009496 name: Small epiphyses of the 2nd finger def: "Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms." [HPO:curators] synonym: "Small end part of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024330 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009497 name: Stippling of the epiphyses of the 2nd finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger." [HPO:curators] synonym: "Speckled calcifications in end part of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024329 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009498 name: Triangular epiphyses of the 2nd finger def: "A triangular appearance of the epiphyses of the 2nd finger of the hand." [HPO:curators] synonym: "Triangular end part of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024328 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009499 name: Abnormality of the epiphysis of the distal phalanx of the 2nd finger alt_id: HP:0004146 synonym: "Abnormality of the end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Epiphyseal abnormality of terminal index finger phalanx" EXACT [] xref: UMLS:C4021464 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger created_by: doelkens creation_date: 2009-01-16T01:08:35Z [Term] id: HP:0009500 name: Abnormality of the epiphysis of the middle phalanx of the 2nd finger alt_id: HP:0004135 synonym: "Abnormality of end part of the middle bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Epiphyseal abnormality of middle phalanx of the 2nd finger" EXACT [] xref: UMLS:C4021463 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:08:35Z [Term] id: HP:0009501 name: Abnormality of the epiphysis of the proximal phalanx of the 2nd finger alt_id: HP:0004127 synonym: "Abnormality of end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Epiphyseal abnormality of the proximal phalanx of the 2nd finger" EXACT [] xref: UMLS:C4021462 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:08:35Z [Term] id: HP:0009502 name: Absent epiphysis of the distal phalanx of the 2nd finger alt_id: HP:0004147 def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger." [HPO:curators] synonym: "Absent end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent ossification/absent epiphysis of terminal index finger phalanx" EXACT [] xref: UMLS:C4021461 is_a: HP:0009488 ! Absent epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger is_a: HP:0010246 ! Absent epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009503 name: Bracket epiphysis of the distal phalanx of the 2nd finger def: "An abnormality of the distal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators] synonym: "Bracket shaped end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024327 is_a: HP:0009489 ! Bracket epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger is_a: HP:0010247 ! Bracket epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009504 name: Cone-shaped epiphysis of the distal phalanx of the 2nd finger def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] synonym: "Cone-shaped end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024326 is_a: HP:0009490 ! Cone-shaped epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger is_a: HP:0010248 ! Cone-shaped epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009505 name: Enlarged epiphysis of the distal phalanx of the 2nd finger def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms." [HPO:curators] synonym: "Enlarged end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024325 is_a: HP:0009491 ! Enlarged epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger is_a: HP:0010249 ! Enlarged epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009506 name: Fragmentation of the epiphysis of the distal phalanx of the 2nd finger def: "Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger." [HPO:curators] synonym: "Fragmentation of end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024324 is_a: HP:0009492 ! Fragmentation of the epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger is_a: HP:0010250 ! Fragmentation of the epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009507 name: Irregular epiphysis of the distal phalanx of the 2nd finger def: "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger." [HPO:curators] synonym: "Irregular end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024323 is_a: HP:0009493 ! Irregular epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger is_a: HP:0010251 ! Irregular epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009508 name: Ivory epiphysis of the distal phalanx of the 2nd finger alt_id: HP:0004148 def: "Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] synonym: "Increased bone density of end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Ivory epiphysis of terminal index finger phalanx" EXACT [] xref: UMLS:C4021460 is_a: HP:0009494 ! Ivory epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger is_a: HP:0010252 ! Ivory epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009509 name: Pseudoepiphysis of the distal phalanx of the 2nd finger def: "A secondary ossification center in the distal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators] xref: UMLS:C4024322 is_a: HP:0009495 ! Pseudoepiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger is_a: HP:0010253 ! Pseudoepiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009510 name: Small epiphysis of the distal phalanx of the 2nd finger def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms." [HPO:curators] synonym: "Small end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024321 is_a: HP:0009496 ! Small epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger is_a: HP:0010254 ! Small epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009511 name: Stippling of the epiphysis of the distal phalanx of the 2nd finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger." [HPO:curators] synonym: "Speckled calcifications in end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024320 is_a: HP:0009497 ! Stippling of the epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger is_a: HP:0010255 ! Stippling of the epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009512 name: Triangular epiphysis of the distal phalanx of the 2nd finger def: "A triangular appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Triangular end part of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024319 is_a: HP:0009498 ! Triangular epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger is_a: HP:0010256 ! Triangular epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009513 name: Absent epiphysis of the middle phalanx of the 2nd finger alt_id: HP:0004136 synonym: "Absent epiphyses of middle phalanx of index finger" EXACT [] synonym: "Missing end part of the middle long bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021459 is_a: HP:0009488 ! Absent epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0010257 ! Absent epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009514 name: Bracket epiphysis of the middle phalanx of the 2nd finger def: "An abnormality of the middle phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators] synonym: "Bracket shaped end part of the middle long bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024318 is_a: HP:0009489 ! Bracket epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0010258 ! Bracket epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009515 name: Cone-shaped epiphysis of the middle phalanx of the 2nd finger alt_id: HP:0004137 synonym: "Cone-shaped end part of the middle long bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cone-shaped epiphyses of middle phalanx of index finger" EXACT [] xref: UMLS:C4021458 is_a: HP:0009490 ! Cone-shaped epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0010259 ! Cone-shaped epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009516 name: Enlarged epiphysis of the middle phalanx of the 2nd finger synonym: "Enlarged end part of the middle bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024317 is_a: HP:0009491 ! Enlarged epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0010260 ! Enlarged epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009517 name: Fragmentation of the epiphysis of the middle phalanx of the 2nd finger synonym: "Fragmentation of end part of the middle long bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024316 is_a: HP:0009492 ! Fragmentation of the epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0010261 ! Fragmentation of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009518 name: Irregular epiphysis of the middle phalanx of the 2nd finger synonym: "Irregular end part of the middle long bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024315 is_a: HP:0009493 ! Irregular epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0010262 ! Irregular epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009519 name: Ivory epiphysis of the middle phalanx of the 2nd finger synonym: "Increased bone density of end part of the middle bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024314 is_a: HP:0009494 ! Ivory epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0010263 ! Ivory epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009520 name: Pseudoepiphysis of the middle phalanx of the 2nd finger def: "A secondary ossification center in the middle phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators] xref: UMLS:C4024313 is_a: HP:0009495 ! Pseudoepiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0010264 ! Pseudoepiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009521 name: Small epiphysis of the middle phalanx of the 2nd finger synonym: "Small end part of the innermost long bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024312 is_a: HP:0009496 ! Small epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0010265 ! Small epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009522 name: Stippling of the epiphysis of the middle phalanx of the 2nd finger synonym: "Speckled calcifications in end part of the middle bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024311 is_a: HP:0009497 ! Stippling of the epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0010266 ! Stippling of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009523 name: Triangular epiphysis of the middle phalanx of the 2nd finger synonym: "Triangular end part of the middle bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024310 is_a: HP:0009498 ! Triangular epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0010267 ! Triangular epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009524 name: Absent epiphysis of the proximal phalanx of the 2nd finger synonym: "Absent end part of innermost long bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024309 is_a: HP:0009488 ! Absent epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0010268 ! Absent epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009525 name: Bracket epiphysis of the proximal phalanx of the 2nd finger alt_id: HP:0004120 def: "An abnormality of the proximal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators] synonym: "Bracket epiphyses of proximal index finger phalanx" EXACT [] synonym: "Bracket shaped end part of innermost long bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021457 is_a: HP:0009489 ! Bracket epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0010269 ! Bracket epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009526 name: Cone-shaped epiphysis of the proximal phalanx of the 2nd finger alt_id: HP:0004128 synonym: "Cone-shaped end part of innermost long bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cone-shaped epiphysis of proximal index finger phalanx" EXACT [] xref: UMLS:C4021456 is_a: HP:0009490 ! Cone-shaped epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0010270 ! Cone-shaped epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009527 name: Enlarged epiphysis of the proximal phalanx of the 2nd finger alt_id: HP:0004129 synonym: "Enlarged end part of innermost long bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Large epiphysis of proximal index finger phalanx" EXACT [] xref: UMLS:C4021455 is_a: HP:0009491 ! Enlarged epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0010271 ! Enlarged epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009528 name: Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger synonym: "Fragmentation of end part of innermost long bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024308 is_a: HP:0009492 ! Fragmentation of the epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0010272 ! Fragmentation of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009529 name: Irregular epiphysis of the proximal phalanx of the 2nd finger synonym: "Irregular end part of innermost long bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024307 is_a: HP:0009493 ! Irregular epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0010273 ! Irregular epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009530 name: Ivory epiphysis of the proximal phalanx of the 2nd finger synonym: "Increased bone density of end part of the innermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024306 is_a: HP:0009494 ! Ivory epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0010274 ! Ivory epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009531 name: Pseudoepiphysis of the proximal phalanx of the 2nd finger def: "A secondary ossification center in the proximal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators] xref: UMLS:C4024305 is_a: HP:0009495 ! Pseudoepiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0010275 ! Pseudoepiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009532 name: Small epiphysis of the proximal phalanx of the 2nd finger synonym: "Small end part of proximal long bond of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024304 is_a: HP:0009496 ! Small epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0010276 ! Small epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009533 name: Stippling of the epiphysis of the proximal phalanx of the 2nd finger synonym: "Speckled calcifications in end part of the innermost long bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024303 is_a: HP:0009497 ! Stippling of the epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0010277 ! Stippling of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009534 name: Triangular epiphysis of the proximal phalanx of the 2nd finger alt_id: HP:0004130 synonym: "Triangular end part of innermost long bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular epiphysis of proximal index finger phalanx" EXACT [] xref: UMLS:C4021454 is_a: HP:0009498 ! Triangular epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0010278 ! Triangular epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009535 name: Aplasia of the 2nd finger alt_id: HP:0004106 def: "Absent 2nd (index) finger." [HPO:curators] synonym: "Absent index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent index finger phalanges" EXACT [] synonym: "Aplasia of the index finger" EXACT [] xref: UMLS:C4021453 is_a: HP:0006264 ! Aplasia/Hypoplasia of the 2nd finger is_a: HP:0009380 ! Aplasia of the fingers created_by: doelkens creation_date: 2009-01-19T04:18:22Z [Term] id: HP:0009536 name: Short 2nd finger alt_id: HP:0004104 alt_id: HP:0004113 alt_id: HP:0004115 alt_id: HP:0005796 def: "Hypoplasia of the second finger, also known as the index finger." [HPO:sdoelken] synonym: "Hypoplastic index finger phalanges" EXACT [] synonym: "Hypoplastic/small index finger" EXACT [] synonym: "Short index finger" EXACT layperson [] synonym: "Short index finger phalanges" EXACT [] synonym: "Short index fingers" EXACT layperson [] xref: UMLS:C1862142 is_a: HP:0006264 ! Aplasia/Hypoplasia of the 2nd finger is_a: HP:0009381 ! Short finger created_by: doelkens creation_date: 2009-01-19T04:18:22Z [Term] id: HP:0009537 name: Flexion contracture of the 2nd finger def: "Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected." [HPO:curators] synonym: "Joint contractures of the 2nd finger" EXACT [] xref: UMLS:C4021452 is_a: HP:0004100 ! Abnormal 2nd finger morphology is_a: HP:0012785 ! Flexion contracture of finger created_by: doelkens creation_date: 2009-01-21T10:10:27Z [Term] id: HP:0009538 name: Contracture of the distal interphalangeal joint of the 2nd finger def: "Chronic loss of joint motion of the distal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue." [HPO:probinson] xref: UMLS:C4024302 is_a: HP:0009537 ! Flexion contracture of the 2nd finger is_a: HP:0009697 ! Contracture of the distal interphalangeal joint of the fingers created_by: doelkens creation_date: 2009-01-21T10:11:49Z [Term] id: HP:0009539 name: Contracture of the metacarpophalangeal joint of the 2nd finger def: "Chronic loss of joint motion of the metacarpophalangeal joint of the 2nd finger due to structural changes in non-bony tissue." [HPO:curators] xref: UMLS:C4024301 is_a: HP:0009537 ! Flexion contracture of the 2nd finger created_by: doelkens creation_date: 2009-01-21T10:11:49Z [Term] id: HP:0009540 name: Contracture of the proximal interphalangeal joint of the 2nd finger def: "Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue." [HPO:probinson] synonym: "Camptodactyly of 2nd finger" EXACT [] synonym: "Camptodactyly of index finger" EXACT [] synonym: "Camptodactyly of second finger" EXACT [] xref: UMLS:C4021451 is_a: HP:0009537 ! Flexion contracture of the 2nd finger is_a: HP:0100490 ! Camptodactyly of finger created_by: doelkens creation_date: 2009-01-21T10:11:49Z [Term] id: HP:0009541 name: Abnormality of the phalanges of the 2nd finger alt_id: HP:0004105 def: "Abnormality of the phalanges of the 2nd (index) finger." [HPO:curators] synonym: "Abnormal index finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of 2nd finger phalanges" EXACT [] xref: UMLS:C4021450 is_a: HP:0004100 ! Abnormal 2nd finger morphology is_a: HP:0009774 ! Triangular shaped phalanges of the hand created_by: doelkens creation_date: 2009-01-21T10:15:07Z [Term] id: HP:0009542 name: Abnormality of the distal phalanx of the 2nd finger alt_id: HP:0004111 alt_id: HP:0004140 synonym: "Abnormality of terminal index finger phalanx" EXACT [] synonym: "Abnormality of the outermost bone of the 2nd finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021449 is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger created_by: doelkens creation_date: 2009-01-21T10:17:15Z [Term] id: HP:0009543 name: Abnormality of the middle phalanx of the 2nd finger alt_id: HP:0004131 synonym: "Abnormal middle index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of middle 2nd finger phalanx" EXACT [] xref: UMLS:C4021448 is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger created_by: doelkens creation_date: 2009-01-21T10:17:15Z [Term] id: HP:0009544 name: Abnormality of the proximal phalanx of the 2nd finger alt_id: HP:0004119 synonym: "Abnormal innermost index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the proximal 2nd finger phalanx" EXACT [] xref: UMLS:C4021447 is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger created_by: doelkens creation_date: 2009-01-21T10:17:15Z [Term] id: HP:0009545 name: Symphalangism of the 2nd finger alt_id: HP:0004116 synonym: "Fused index finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Symphalangism of index finger phalanges" EXACT [] xref: UMLS:C4021446 is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger is_a: HP:0009700 ! Finger symphalangism is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand created_by: doelkens creation_date: 2009-01-21T10:19:34Z [Term] id: HP:0009546 name: Triangular shaped phalanges of the 2nd finger alt_id: HP:0004117 def: "Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] synonym: "Triangular bones of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular index finger phalanges" EXACT [] xref: UMLS:C4021445 is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger created_by: doelkens creation_date: 2009-01-21T10:19:34Z [Term] id: HP:0009547 name: Broad phalanges of the 2nd finger alt_id: HP:0004118 synonym: "Wide index finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide/broad index finger phalanges" EXACT [] xref: UMLS:C4021444 is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger is_a: HP:0009768 ! Broad phalanges of the hand created_by: doelkens creation_date: 2009-01-21T10:19:34Z [Term] id: HP:0009548 name: Bullet-shaped phalanges of the 2nd finger def: "A second finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped index finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024300 is_a: HP:0009769 ! Bullet-shaped phalanges of the hand created_by: doelkens creation_date: 2009-01-21T10:20:26Z [Term] id: HP:0009549 name: Curved phalanges of the 2nd finger synonym: "Curved index finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024299 is_a: HP:0004095 ! Curved fingers is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger is_a: HP:0009770 ! Curved phalanges of the hand created_by: doelkens creation_date: 2009-01-21T10:20:26Z [Term] id: HP:0009550 name: Osteolytic defects of the phalanges of the 2nd finger alt_id: HP:0004114 synonym: "Lytic defect in index finger phalanges" EXACT [] xref: UMLS:C4021443 is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand created_by: doelkens creation_date: 2009-01-21T10:20:26Z [Term] id: HP:0009551 name: Patchy sclerosis of 2nd finger phalanx def: "Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger." [HPO:probinson] synonym: "Patchy sclerosis of the phalanges of the 2nd finger" EXACT [] synonym: "Uneven increase in bone density in index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021442 is_a: HP:0009772 ! Patchy sclerosis of finger phalanx is_a: HP:0100918 ! Sclerosis of 2nd finger phalanx created_by: doelkens creation_date: 2009-01-21T10:20:26Z [Term] id: HP:0009552 name: Aplasia/Hypoplasia of the phalanges of the 2nd finger synonym: "Absent/small index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024298 is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand created_by: doelkens creation_date: 2009-01-21T10:20:26Z [Term] id: HP:0009553 name: Abnormality of the hairline def: "The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair." [HPO:probinson] synonym: "Abnormality of the hairline" EXACT layperson [] xref: UMLS:C4024297 is_a: HP:0011361 ! Congenital abnormal hair pattern is_a: HP:0100037 ! Abnormality of the scalp hair created_by: peter creation_date: 2009-01-21T05:19:14Z [Term] id: HP:0009554 name: Projection of scalp hair onto lateral cheek def: "An tongue-like extension of hair towards the cheeks." [HPO:curators] synonym: "Hair growing down to cheek" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Projection of scalp hair onto lateral cheek" EXACT layperson [] xref: UMLS:C4024296 is_a: HP:0009553 ! Abnormality of the hairline created_by: peter creation_date: 2009-01-21T05:21:54Z [Term] id: HP:0009555 name: Hypoplasia of the pharynx def: "Underdevelopment of the pharynx." [HPO:curators] synonym: "Decreased diameter of pharynx" NARROW [ORCID:0000-0001-5889-4463] synonym: "Decreased length of pharynx" NARROW [ORCID:0000-0001-5889-4463] synonym: "Decreased size of pharynx" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased volume of pharynx" NARROW [ORCID:0000-0001-5889-4463] synonym: "Decreased width of pharynx" NARROW [ORCID:0000-0001-5889-4463] synonym: "Hypotrophic pharynx" RELATED [ORCID:0000-0001-5889-4463] synonym: "Small pharynx" BROAD [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of pharynx" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4024295 xref: UMLS:C4280396 xref: UMLS:C4280397 xref: UMLS:C4280398 xref: UMLS:C4280399 xref: UMLS:C4280400 is_a: HP:0000600 ! Abnormality of the pharynx created_by: peter creation_date: 2009-01-21T05:24:16Z [Term] id: HP:0009556 name: Absent tibia def: "Absence of the tibia." [HPO:probinson] subset: hposlim_core synonym: "Absent shankbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent shinbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia of the tibia" EXACT [] xref: UMLS:C3276744 is_a: HP:0005772 ! Aplasia/Hypoplasia of the tibia is_a: HP:0009817 ! Aplasia involving bones of the lower limbs created_by: peter creation_date: 2009-01-27T06:09:44Z [Term] id: HP:0009557 name: Aplasia/Hypoplasia of the distal phalanx of the 2nd finger synonym: "Absent/small outermost index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped outermost index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024294 is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009552 ! Aplasia/Hypoplasia of the phalanges of the 2nd finger created_by: doelkens creation_date: 2009-01-28T04:16:02Z [Term] id: HP:0009558 name: Broad distal phalanx of the 2nd finger def: "Increased width of the distal phalanx of the 2nd finger." [HPO:curators] synonym: "Wide outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024293 is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009547 ! Broad phalanges of the 2nd finger is_a: HP:0009836 ! Broad distal phalanx of finger created_by: doelkens creation_date: 2009-01-28T04:16:02Z [Term] id: HP:0009559 name: Bullet-shaped distal phalanx of the 2nd finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected." [HPO:curators] synonym: "Bullet-shaped outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024292 is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009548 ! Bullet-shaped phalanges of the 2nd finger is_a: HP:0009837 ! Bullet-shaped distal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T04:16:02Z [Term] id: HP:0009560 name: Curved distal phalanx of the 2nd finger def: "Curved appearance of the distal phalanx of the 2nd finger." [HPO:curators] synonym: "Curved outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024291 is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009549 ! Curved phalanges of the 2nd finger is_a: HP:0009838 ! Curved distal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T04:16:02Z [Term] id: HP:0009561 name: Osteolytic defects of the distal phalanx of the 2nd finger alt_id: HP:0004108 alt_id: HP:0004142 def: "Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger." [HPO:curators] synonym: "Acro-osteolysis of index finger" EXACT [] synonym: "Acro-osteolysis of terminal index finger phalanx" EXACT [] synonym: "Osteolytic defects of the outermost bone of the 2nd finger" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4021441 is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009550 ! Osteolytic defects of the phalanges of the 2nd finger is_a: HP:0009839 ! Osteolytic defects of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T04:16:02Z [Term] id: HP:0009562 name: Patchy sclerosis of the distal phalanx of the 2nd finger def: "Uneven (irregular) increase in bone density of the distal phalanx of the second finger." [HPO:probinson] synonym: "Uneven increase in bone density in the outermost bone of the 2nd finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024290 is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009551 ! Patchy sclerosis of 2nd finger phalanx is_a: HP:0009840 ! Patchy sclerosis of distal phalanx of finger is_a: HP:0100900 ! Sclerosis of the distal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-28T04:16:02Z [Term] id: HP:0009563 name: Distal/middle symphalangism of 2nd finger alt_id: HP:0009567 alt_id: HP:0009578 def: "Fusion of the terminal/distal and middle phalanges of the 2nd finger." [HPO:curators] synonym: "Fused outermost and middle index finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Symphalangism of the distal and middle phalanges of the 2nd finger" EXACT [] xref: UMLS:C4021440 is_a: HP:0001204 ! Distal symphalangism of hands is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009574 ! Symphalangism of middle phalanx of 2nd finger created_by: doelkens creation_date: 2009-01-28T04:16:02Z [Term] id: HP:0009564 name: Triangular shaped distal phalanx of the 2nd finger def: "Triangular shaped distal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] synonym: "Triangular shaped outermost bone of the 2nd finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024289 is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009546 ! Triangular shaped phalanges of the 2nd finger is_a: HP:0009875 ! Triangular shaped distal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T04:16:02Z [Term] id: HP:0009565 name: Aplasia of the distal phalanx of the 2nd finger alt_id: HP:0004141 alt_id: HP:0005748 synonym: "Absent outermost index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent terminal index finger phalanx" EXACT [] xref: UMLS:C4021439 is_a: HP:0009535 ! Aplasia of the 2nd finger is_a: HP:0009557 ! Aplasia/Hypoplasia of the distal phalanx of the 2nd finger is_a: HP:0009881 ! Aplasia of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T04:20:22Z [Term] id: HP:0009566 name: Short distal phalanx of the 2nd finger alt_id: HP:0004145 def: "Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger." [HPO:probinson] synonym: "Hypoplastic terminal index finger phalanx" EXACT [] synonym: "Hypoplastic/small distal phalanx of the 2nd finger" EXACT [] synonym: "Short distal phalanx of the second finger" EXACT [] synonym: "Short outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short terminal index finger phalanx" EXACT [] xref: UMLS:C4021438 is_a: HP:0009536 ! Short 2nd finger is_a: HP:0009557 ! Aplasia/Hypoplasia of the distal phalanx of the 2nd finger is_a: HP:0009882 ! Short distal phalanx of finger created_by: doelkens creation_date: 2009-01-28T04:20:22Z [Term] id: HP:0009568 name: Aplasia/Hypoplasia of the middle phalanx of the 2nd finger alt_id: HP:0006221 synonym: "Absent/hypoplastic middle phalanx of 2nd finger" EXACT [] synonym: "Absent/small middle index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped middle index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hypoplastic/aplastic middle phalanx of index finger" EXACT [] xref: UMLS:C1862144 is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009552 ! Aplasia/Hypoplasia of the phalanges of the 2nd finger created_by: doelkens creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009569 name: Broad middle phalanx of the 2nd finger def: "Increased width of the middle phalanx of the second finger." [HPO:sdoelken] synonym: "Broad middle bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024288 is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009547 ! Broad phalanges of the 2nd finger is_a: HP:0009844 ! Broad middle phalanx of finger created_by: doelkens creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009570 name: Bullet-shaped middle phalanx of the 2nd finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 2nd finger is affected." [HPO:curators] synonym: "Bullet-shaped middle bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024287 is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009548 ! Bullet-shaped phalanges of the 2nd finger is_a: HP:0009845 ! Bullet-shaped middle phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009571 name: Curved middle phalanx of the 2nd finger def: "Curved appearance of the middle phalanx of the 2nd finger." [HPO:curators] synonym: "Curved middle bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024286 is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009549 ! Curved phalanges of the 2nd finger is_a: HP:0009846 ! Curved middle phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009572 name: Osteolytic defects of the middle phalanx of the 2nd finger alt_id: HP:0004134 def: "Dissolution or degeneration of bone tissue of the middle phalanx of the 2nd finger." [HPO:curators] synonym: "Lytic defects of middle index finger phalanx" EXACT [] xref: UMLS:C4021437 is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009550 ! Osteolytic defects of the phalanges of the 2nd finger is_a: HP:0009847 ! Osteolytic defects of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009573 name: Patchy sclerosis of the middle phalanx of the 2nd finger def: "Uneven (irregular) increase in bone density of the middle phalanx of the second finger." [HPO:probinson] synonym: "Uneven increase in bone density in the middle bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024285 is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009551 ! Patchy sclerosis of 2nd finger phalanx is_a: HP:0009848 ! Patchy sclerosis of middle phalanx of finger is_a: HP:0100904 ! Sclerosis of the middle phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009574 name: Symphalangism of middle phalanx of 2nd finger def: "Fusion of the middle phalanx of the 2nd finger with another bone." [HPO:curators] synonym: "Fused middle bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024284 is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009545 ! Symphalangism of the 2nd finger is_a: HP:0009849 ! Symphalangism of middle phalanx of finger created_by: doelkens creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009575 name: Triangular shaped middle phalanx of the 2nd finger def: "Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] synonym: "Triangular shaped middle bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024283 is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009546 ! Triangular shaped phalanges of the 2nd finger is_a: HP:0009850 ! Triangular shaped middle phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009576 name: Absent middle phalanx of 2nd finger alt_id: HP:0005760 def: "Absence of the middle phalanx of the index (2nd) finger." [HPO:curators] synonym: "Absent middle bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent middle phalanx of index finger" EXACT [] synonym: "Aplasia of the middle phalanx of the 2nd finger" EXACT [] xref: UMLS:C4021436 is_a: HP:0009535 ! Aplasia of the 2nd finger is_a: HP:0009568 ! Aplasia/Hypoplasia of the middle phalanx of the 2nd finger is_a: HP:0010239 ! Aplasia of the middle phalanx of the hand created_by: doelkens creation_date: 2009-01-28T05:15:55Z [Term] id: HP:0009577 name: Short middle phalanx of the 2nd finger alt_id: HP:0004133 def: "Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger." [HPO:sdoelken] synonym: "Hypoplastic middle index finger phalanx" EXACT [] synonym: "Hypoplastic/small middle phalanx of the 2nd finger" EXACT [] synonym: "Short middle bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021435 is_a: HP:0005819 ! Short middle phalanx of finger is_a: HP:0009536 ! Short 2nd finger is_a: HP:0009568 ! Aplasia/Hypoplasia of the middle phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-28T05:15:55Z [Term] id: HP:0009579 name: Proximal/middle symphalangism of the 2nd finger def: "Fusion of the proximal and middle phalanges of the 2nd finger." [HPO:curators] synonym: "Fused innermost and middle index finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024282 is_a: HP:0006152 ! Proximal symphalangism of hands is_a: HP:0009574 ! Symphalangism of middle phalanx of 2nd finger is_a: HP:0009586 ! Symphalangism affecting the proximal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-28T05:23:12Z [Term] id: HP:0009580 name: Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger synonym: "Absent/small innermost index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped innermost index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024281 is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009552 ! Aplasia/Hypoplasia of the phalanges of the 2nd finger created_by: doelkens creation_date: 2009-01-28T05:26:39Z [Term] id: HP:0009581 name: Broad proximal phalanx of the 2nd finger alt_id: HP:0004126 def: "Increased width of the proximal phalanx of the 2nd finger." [HPO:curators] synonym: "Wide innermost bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide/broad proximal index finger phalanx" EXACT [] xref: UMLS:C4021434 is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009547 ! Broad phalanges of the 2nd finger is_a: HP:0009852 ! Broad proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:26:39Z [Term] id: HP:0009582 name: Bullet-shaped proximal phalanx of the 2nd finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 2nd finger is affected." [HPO:curators] synonym: "Bullet-shaped innermost bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024280 is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009548 ! Bullet-shaped phalanges of the 2nd finger is_a: HP:0009853 ! Bullet-shaped proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:26:39Z [Term] id: HP:0009583 name: Curved proximal phalanx of the 2nd finger def: "Curved appearance of the proximal phalanx of the 2nd finger." [HPO:curators] synonym: "Curved innermost bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024279 is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009549 ! Curved phalanges of the 2nd finger is_a: HP:0009854 ! Curved proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:26:39Z [Term] id: HP:0009584 name: Osteolytic defects of the proximal phalanx of the 2nd finger alt_id: HP:0004123 def: "Dissolution or degeneration of bone tissue of the proximal phalanx of the 2nd finger." [HPO:curators] synonym: "Lytic defects of proximal index finger phalanx" EXACT [] xref: UMLS:C4021433 is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009550 ! Osteolytic defects of the phalanges of the 2nd finger is_a: HP:0009855 ! Osteolytic defects of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:26:39Z [Term] id: HP:0009585 name: Patchy sclerosis of the proximal phalanx of the 2nd finger def: "Uneven (irregular) increase in bone density of the proximal phalanx of the second finger." [HPO:probinson] synonym: "Uneven increase in bone density in innermost index finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024278 is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009551 ! Patchy sclerosis of 2nd finger phalanx is_a: HP:0009856 ! Patchy sclerosis of proximal phalanx of finger is_a: HP:0100908 ! Sclerosis of the proximal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-28T05:26:39Z [Term] id: HP:0009586 name: Symphalangism affecting the proximal phalanx of the 2nd finger def: "Fusion of the proximal phalanx of the 2nd finger with another bone." [HPO:curators] synonym: "Fused innermost bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024277 is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009545 ! Symphalangism of the 2nd finger is_a: HP:0009857 ! Symphalangism affecting the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:26:39Z [Term] id: HP:0009587 name: Triangular shaped proximal phalanx of the 2nd finger alt_id: HP:0004125 def: "Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] synonym: "Triangular proximal index finger phalanx" EXACT [] synonym: "Triangular shaped innermost bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021432 is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009546 ! Triangular shaped phalanges of the 2nd finger is_a: HP:0009858 ! Triangular shaped proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:26:39Z [Term] id: HP:0009588 name: Vestibular Schwannoma def: "A vestibular Schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear." [HPO:probinson] subset: hposlim_core synonym: "Acoustic Neuroma" EXACT [] synonym: "Vestibular neurilemmoma" EXACT [] synonym: "Vestibular neurinoma" EXACT [] synonym: "Vestibular neurolemmoma" EXACT [] synonym: "Vestibular Schwann cell tumor" EXACT [] xref: MSH:D009464 xref: NCIT:C3269 xref: SNOMEDCT_US:126949007 xref: SNOMEDCT_US:985004 xref: UMLS:C0027859 is_a: HP:0009591 ! Abnormality of the vestibulocochlear nerve is_a: HP:0040096 ! Neoplasm of the inner ear is_a: HP:0100008 ! Schwannoma created_by: peter creation_date: 2009-01-28T10:37:32Z [Term] id: HP:0009589 name: Bilateral vestibular Schwannoma def: "A bilateral vestibular Schwannoma (acoustic neurinoma)." [HPO:curators] synonym: "Bilateral acoustic neuromas" EXACT [] xref: MSH:D016518 xref: UMLS:C1136042 is_a: HP:0009588 ! Vestibular Schwannoma created_by: peter creation_date: 2009-01-28T10:39:14Z [Term] id: HP:0009590 name: Unilateral vestibular Schwannoma def: "A unilateral vestibular Schwannoma (acoustic neurinoma)." [HPO:curators] xref: UMLS:C1863653 is_a: HP:0009588 ! Vestibular Schwannoma created_by: peter creation_date: 2009-01-28T10:40:23Z [Term] id: HP:0009591 name: Abnormality of the vestibulocochlear nerve def: "Abnormality of the vestibulocochlear nerve, the eighth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain." [HPO:probinson] synonym: "Abnormality of the eighth cranial nerve" EXACT [] synonym: "Abnormality of the VIIIth cranial nerve" EXACT [] xref: UMLS:C4021431 is_a: HP:0001291 ! Abnormal cranial nerve morphology created_by: peter creation_date: 2009-01-28T10:42:57Z [Term] id: HP:0009592 name: Astrocytoma def: "Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma." [HPO:curators] xref: MSH:D001254 xref: SNOMEDCT_US:38713004 xref: UMLS:C0004114 is_a: HP:0009733 ! Glioma is_a: HP:0100707 ! Abnormality of the astrocytes created_by: peter creation_date: 2009-01-28T10:51:01Z [Term] id: HP:0009593 name: Peripheral Schwannoma def: "The presence of a peripheral schwannoma." [HPO:probinson] comment: A Peripheral Schwannoma (also known as neurilemoma) is a benign, usually encapsulated neoplasm derived from Schwann cells. xref: UMLS:C4024276 is_a: HP:0008069 ! Neoplasm of the skin is_a: HP:0100008 ! Schwannoma created_by: peter creation_date: 2009-01-28T10:55:58Z [Term] id: HP:0009594 name: Retinal hamartoma def: "A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina." [HPO:probinson] xref: UMLS:C1863411 is_a: HP:0000479 ! Abnormal retinal morphology is_a: HP:0010568 ! Hamartoma of the eye created_by: peter creation_date: 2009-01-28T10:58:47Z [Term] id: HP:0009595 name: Occasional neurofibromas def: "Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1." [HPO:curators] xref: UMLS:C3810474 is_a: HP:0001067 ! Neurofibromas created_by: peter creation_date: 2009-01-28T11:12:19Z [Term] id: HP:0009596 name: Aplasia of the proximal phalanx of the 2nd finger def: "Absence of the proximal phalanx of the 2nd finger." [HPO:curators] synonym: "Absent innermost bone of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024275 is_a: HP:0009535 ! Aplasia of the 2nd finger is_a: HP:0009580 ! Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger is_a: HP:0010242 ! Aplasia of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T10:19:36Z [Term] id: HP:0009597 name: Short proximal phalanx of the 2nd finger alt_id: HP:0004124 def: "Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger." [HPO:sdoelken] synonym: "Hypoplastic/small proximal phalanx of the 2nd finger" EXACT [] synonym: "Short proximal index finger phalanx" EXACT [] synonym: "Short proximal phalanx of the second finger" EXACT [] xref: UMLS:C4021430 is_a: HP:0009536 ! Short 2nd finger is_a: HP:0009580 ! Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger is_a: HP:0010241 ! Short proximal phalanx of finger created_by: doelkens creation_date: 2009-01-29T10:19:36Z [Term] id: HP:0009598 name: Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal def: "Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal." [HPO:curators] synonym: "Fused innermost bone of index finger with 2nd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024274 is_a: HP:0005880 ! Metacarpophalangeal synostosis is_a: HP:0009586 ! Symphalangism affecting the proximal phalanx of the 2nd finger is_a: HP:0009705 ! Synostosis involving the 2nd metacarpal created_by: doelkens creation_date: 2009-01-29T10:21:45Z [Term] id: HP:0009599 name: Abnormality of thumb epiphysis alt_id: HP:0004074 def: "Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal." [HPO:probinson] comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). synonym: "Abnormality of end part of thumb long bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the epiphyses of the thumb" EXACT [] synonym: "Abnormality of thumb epiphyses" EXACT [] xref: UMLS:C4021429 is_a: HP:0001172 ! Abnormal thumb morphology is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand created_by: doelkens creation_date: 2009-01-29T11:46:15Z [Term] id: HP:0009600 name: Flexion contracture of thumb alt_id: HP:0004061 alt_id: HP:0006043 def: "Chronic loss of joint motion in the thumb due to structural changes in non-bony tissue. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected." [HPO:probinson] synonym: "Contracture of thumb" EXACT [] synonym: "Flexion deformities of thumbs" EXACT [] synonym: "Joint contractures of the thumb" EXACT [] xref: SNOMEDCT_US:239736003 xref: UMLS:C0409346 is_a: HP:0001172 ! Abnormal thumb morphology is_a: HP:0012785 ! Flexion contracture of finger created_by: doelkens creation_date: 2009-01-29T01:06:31Z [Term] id: HP:0009601 name: Aplasia/Hypoplasia of the thumb alt_id: HP:0002950 alt_id: HP:0006225 def: "Hypoplastic/small or absent thumb." [HPO:probinson] synonym: "Absent or hypoplastic thumbs" EXACT [] synonym: "Absent/hypoplastic thumb" EXACT [] synonym: "Absent/hypoplastic thumbs" EXACT [] synonym: "Absent/small thumb" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped thumb" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia/hypoplasia of thumbs" EXACT [] synonym: "Aplastic/hypoplastic thumbs" EXACT [] synonym: "Hypoplastic to aplastic thumbs" EXACT [] synonym: "Hypoplastic/absent thumb" EXACT [] synonym: "Thumb aplasia/hypoplasia" EXACT [] xref: MSH:C536903 xref: UMLS:C3179508 is_a: HP:0001172 ! Abnormal thumb morphology is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers created_by: doelkens creation_date: 2009-01-29T01:08:24Z [Term] id: HP:0009602 name: Abnormality of thumb phalanx alt_id: HP:0004063 alt_id: HP:0004064 def: "A structural anomaly of one or more phalanges of the thumb." [HPO:probinson] synonym: "Abnormality of the thumb bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of thumb phalanges" EXACT [] xref: UMLS:C4021428 is_a: HP:0001172 ! Abnormal thumb morphology is_a: HP:0009774 ! Triangular shaped phalanges of the hand created_by: doelkens creation_date: 2009-01-29T01:10:39Z [Term] id: HP:0009603 name: Deviation of the thumb alt_id: HP:0004062 def: "Displacement of the thumb from its normal position." [HPO:curators] synonym: "Abnormal thumb placement" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Deviated thumb" EXACT [] synonym: "Displacement of the thumb" EXACT [] xref: UMLS:C3552414 is_a: HP:0001172 ! Abnormal thumb morphology is_a: HP:0004097 ! Deviation of finger created_by: doelkens creation_date: 2009-01-29T01:49:57Z [Term] id: HP:0009606 name: Complete duplication of distal phalanx of the thumb alt_id: HP:0004084 alt_id: HP:0005784 def: "Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side." [HPO:curators] synonym: "Complete duplication of outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Double thumb distal phalanges" EXACT [] synonym: "Duplicated terminal phalanx of thumb" EXACT [] synonym: "Duplication of distal thumb phalanx" EXACT [] synonym: "Duplication of terminal thumb phalanx" EXACT [] xref: UMLS:C4021427 is_a: HP:0009612 ! Duplication of the distal phalanx of the thumb is_a: HP:0009943 ! Complete duplication of thumb phalanx is_a: HP:0010001 ! Complete duplication of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T03:28:16Z [Term] id: HP:0009608 name: Complete duplication of proximal phalanx of the thumb alt_id: HP:0004078 def: "Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:probinson] synonym: "Complete duplication of the innermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024273 is_a: HP:0009613 ! Duplication of the proximal phalanx of the thumb is_a: HP:0009943 ! Complete duplication of thumb phalanx is_a: HP:0010002 ! Complete duplication of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-29T03:32:28Z [Term] id: HP:0009609 name: Duplication of the 1st metacarpal def: "Partail or complete duplication of the first metacarpal bone." [HPO:probinson] comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin. This term applies if the first metacarpal is completely or partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched metacarpal (the duplicated bone is almost completely fused with the metacarpal), a partially fused appearance of the two bones (in most cases the fused bone resembles a Y-shape), or two separate metacarpal bones appearing side to side. synonym: "Partial/complete duplication of the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the 1st metacarpal" EXACT [] xref: UMLS:C4021426 is_a: HP:0010006 ! Duplication of the proximal phalanx of hand is_a: HP:0010009 ! Abnormality of the 1st metacarpal created_by: doelkens creation_date: 2009-01-29T03:33:31Z [Term] id: HP:0009611 name: Bifid distal phalanx of the thumb alt_id: HP:0004086 alt_id: HP:0005703 alt_id: HP:0005827 alt_id: HP:0006090 def: "Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones." [HPO:sdoelken] synonym: "Bifid distal phalanx of thumb" EXACT [] synonym: "Bifid terminal phalanges of thumbs" EXACT [] synonym: "Incipient distal thumb phalanx duplication" EXACT [] synonym: "Notched outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Notched terminal thumb phalanx" EXACT [] xref: UMLS:C1860162 is_a: HP:0009612 ! Duplication of the distal phalanx of the thumb is_a: HP:0009944 ! Partial duplication of thumb phalanx is_a: HP:0010004 ! Partial duplication of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T03:48:49Z [Term] id: HP:0009612 name: Duplication of the distal phalanx of the thumb def: "Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side." [HPO:sdoelken] synonym: "Duplication of the outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the distal phalanx of the thumb" EXACT [] xref: UMLS:C4021425 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009883 ! Duplication of the distal phalanx of hand is_a: HP:0009942 ! Duplication of thumb phalanx created_by: doelkens creation_date: 2009-01-29T03:51:43Z [Term] id: HP:0009613 name: Duplication of the proximal phalanx of the thumb def: "Complete or partial duplication of the proximal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:sdoelken] synonym: "Notched innermost bone of thumb" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the proximal phalanx of the thumb" EXACT [] xref: UMLS:C4021424 is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009942 ! Duplication of thumb phalanx is_a: HP:0010008 ! Duplication of the middle phalanx of hand created_by: doelkens creation_date: 2009-01-29T03:59:56Z [Term] id: HP:0009614 name: Bifid proximal phalanx of the thumb def: "This term applies if the proximal phalanx of the thumb is partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:probinson] synonym: "Notched thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024272 is_a: HP:0009613 ! Duplication of the proximal phalanx of the thumb is_a: HP:0009944 ! Partial duplication of thumb phalanx is_a: HP:0010005 ! Partial duplication of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-29T04:01:27Z [Term] id: HP:0009615 name: Complete duplication of the first metacarpal def: "Complete duplication of the first metacarpal bone." [HPO:probinson] comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin, equivalent to the proximal phalanges of the other digits. This term applies if the first metacarpal is completely duplicated. On x-ray two separate metacarpal bones appear side to side. This term applies if the first metacarpal is completely duplicated. synonym: "Complete duplication of the first long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024271 is_a: HP:0009609 ! Duplication of the 1st metacarpal is_a: HP:0010000 ! Complete duplication of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T04:06:17Z [Term] id: HP:0009616 name: Bifid first metacarpal def: "Partial duplication of the first metacarpal bone." [HPO:probinson] comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin (equivalent to the proximal phalanges of the other digits). This term applies if the first metacarpal is partially duplicated. Depending on the severity the appearance on x-ray can vary from a notched metacarpal (the duplicated bone is almost completely fused with the metacarpal) to a partially fused appearance of the two bones. In most cases the fused bone resembles a Y-shape. synonym: "Notched first long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "partial duplication of the first metacarpal" EXACT [] xref: UMLS:C4021423 is_a: HP:0009609 ! Duplication of the 1st metacarpal is_a: HP:0010003 ! Partial duplication of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T04:06:17Z [Term] id: HP:0009617 name: Abnormality of the distal phalanx of the thumb alt_id: HP:0004081 def: "Any anomaly of the distal phalanx of thumb." [HPO:probinson] synonym: "Abnormality of terminal thumb phalanx" EXACT [] synonym: "Abnormality of the outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021422 is_a: HP:0009602 ! Abnormality of thumb phalanx created_by: doelkens creation_date: 2009-01-29T04:13:47Z [Term] id: HP:0009618 name: Abnormality of the proximal phalanx of the thumb alt_id: HP:0004076 def: "An anomaly of the shape or form of the proximal phalanx of the thumb." [HPO:curators] comment: In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. {xref="HPO:probinson"} synonym: "Abnormal innermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of proximal thumb phalanx" EXACT [] xref: UMLS:C4021421 is_a: HP:0009602 ! Abnormality of thumb phalanx created_by: doelkens creation_date: 2009-01-29T04:13:47Z [Term] id: HP:0009620 name: obsolete Radial deviation of the thumb is_obsolete: true consider: HP:0009602 [Term] id: HP:0009621 name: obsolete Ulnar deviation of the thumb is_obsolete: true consider: HP:0009602 [Term] id: HP:0009622 name: Distally placed thumb alt_id: HP:0005755 def: "Insertion of thumb at a more distal location than normal." [HPO:probinson] xref: UMLS:C4024270 is_a: HP:0009603 ! Deviation of the thumb created_by: doelkens creation_date: 2009-01-29T04:40:23Z [Term] id: HP:0009623 name: Proximal placement of thumb alt_id: HP:0001170 alt_id: HP:0005668 def: "Proximal mislocalization of the thumb." [HPO:probinson, pmid:19125433] comment: Thumb placement index greater than 0.55; or, the base of the thumb appears closer to the wrist than is typical. The technique for the thumb placement index is described in detail [Malina et al., 1973; Hall et al., 2007]. Briefly, the thumb placement index is the distance from the proximal crease of the index finger to the angle of the first interdigital space divided by the distance from the proximal crease of the index finger to the wrist flexion crease at the base of the thumb. This term should not be used with Preaxial polydactyly. subset: hposlim_core synonym: "Attachment of thumb close to wrist" EXACT layperson [orcid.org/0000-0002-6548-5200] synonym: "Low implantation of the thumb" EXACT [] synonym: "Proximally placed thumbs" EXACT [] xref: UMLS:C1865572 is_a: HP:0009603 ! Deviation of the thumb created_by: doelkens creation_date: 2009-01-29T04:40:23Z [Term] id: HP:0009624 name: Contractures of the carpometacarpal joint of the thumb def: "Chronic loss of joint motion of the carpometacarpal joint of the thumb due to structural changes in non-bony tissue. This joint is formed by the first metacarpal and the trapezial bone and is also called Articulatio carpometacarpalis pollicis, carpometacarpal articulation of thumb, carpometacarpal joint of thumb or first carpometacarpal articulation. Seldom referred to as thumb saddle joint." [HPO:probinson] xref: UMLS:C4024269 is_a: HP:0009600 ! Flexion contracture of thumb created_by: doelkens creation_date: 2009-01-29T04:52:18Z [Term] id: HP:0009625 name: Contractures of the metacarpophalangeal joint of the thumb def: "Chronic loss of joint motion of the metacarpophalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio metacarpophalangealis pollicis." [HPO:probinson] xref: UMLS:C2108151 is_a: HP:0009600 ! Flexion contracture of thumb created_by: doelkens creation_date: 2009-01-29T04:52:18Z [Term] id: HP:0009626 name: Contractures of the interphalangeal joint of the thumb alt_id: HP:0005697 def: "Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis." [HPO:probinson] synonym: "Interphalangeal extension contractures of thumbs" EXACT [] xref: UMLS:C2108146 is_a: HP:0001220 ! Interphalangeal joint contracture of finger is_a: HP:0009600 ! Flexion contracture of thumb created_by: doelkens creation_date: 2009-01-29T04:52:18Z [Term] id: HP:0009629 name: Aplasia/Hypoplasia of the proximal phalanx of the thumb def: "This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] synonym: "Absent/small innermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped innermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024268 is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009658 ! Aplasia/Hypoplasia of the phalanges of the thumb created_by: doelkens creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009630 name: Broad proximal phalanx of the thumb def: "Increased width of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] synonym: "Broad innermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024267 is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009844 ! Broad middle phalanx of finger is_a: HP:0009852 ! Broad proximal phalanges of the hand is_a: HP:0011304 ! Broad thumb created_by: doelkens creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009631 name: Bullet-shaped proximal phalanx of the thumb def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the thumb is affected." [HPO:probinson] synonym: "Bullet-shaped innermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024266 is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009652 ! Bullet-shaped thumb phalanx is_a: HP:0009845 ! Bullet-shaped middle phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009632 name: Curved proximal phalanx of the thumb def: "A deviation from the normal straight shape of the proximal phalanx of the thumb." [HPO:probinson] synonym: "Curved innermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024265 is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009653 ! Curved thumb phalanx is_a: HP:0009846 ! Curved middle phalanges of the hand is_a: HP:0009854 ! Curved proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009633 name: Osteolytic defect of the proximal phalanx of the thumb def: "Dissolution or degeneration of bone tissue of the proximal phalanx of the thumb." [HPO:probinson] synonym: "Osteolytic defects of the proximal phalanx of the thumb" EXACT [] xref: UMLS:C4021420 is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009654 ! Osteolytic defect of thumb phalanx is_a: HP:0009847 ! Osteolytic defects of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009634 name: Patchy sclerosis of the proximal phalanx of the thumb def: "An uneven increase in bone density of the proximal phalanx of the thumb." [HPO:probinson] synonym: "Uneven increase in bone density in the innermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024264 is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009655 ! Patchy sclerosis of thumb phalanx is_a: HP:0009848 ! Patchy sclerosis of middle phalanx of finger is_a: HP:0100913 ! Sclerosis of the proximal phalanx of the thumb created_by: doelkens creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009635 name: Synostosis of thumb phalanx def: "Fusion of a phalanx of the thumb with another bone." [HPO:probinson] synonym: "Fusion of thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024263 is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009849 ! Symphalangism of middle phalanx of finger created_by: doelkens creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009636 name: Triangular shaped proximal phalanx of the thumb alt_id: HP:0004080 def: "Triangular shaped proximal phalanx of the thumb." [HPO:probinson] synonym: "Triangular innermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular proximal thumb phalanx" EXACT [] xref: UMLS:C4021419 is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009657 ! Triangular shaped thumb phalanx is_a: HP:0009850 ! Triangular shaped middle phalanges of the hand is_a: HP:0009858 ! Triangular shaped proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009637 name: Absent proximal phalanx of thumb alt_id: HP:0004077 def: "Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:probinson] synonym: "Absent innermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent ossification/absent proximal thumb phalanx" EXACT [] synonym: "Aplasia of the proximal phalanx of the thumb" EXACT [] xref: UMLS:C4021418 is_a: HP:0009629 ! Aplasia/Hypoplasia of the proximal phalanx of the thumb is_a: HP:0009659 ! Partial absence of thumb is_a: HP:0010239 ! Aplasia of the middle phalanx of the hand created_by: doelkens creation_date: 2009-01-29T05:11:02Z [Term] id: HP:0009638 name: Short proximal phalanx of thumb alt_id: HP:0004079 alt_id: HP:0006073 def: "Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:probinson] synonym: "Hypoplastic/small proximal phalanx of the thumb" EXACT [] synonym: "Short proximal phalanges of thumb" EXACT [] synonym: "Short proximal thumb bone" EXACT [ORCID:0000-0001-5889-4463] synonym: "Short proximal thumb phalanx" EXACT [] xref: UMLS:C1855091 is_a: HP:0005819 ! Short middle phalanx of finger is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009629 ! Aplasia/Hypoplasia of the proximal phalanx of the thumb is_a: HP:0009660 ! Short phalanx of the thumb created_by: doelkens creation_date: 2009-01-29T05:11:02Z [Term] id: HP:0009640 name: Synostosis of the proximal phalanx of the thumb with the 1st metacarpal def: "Fusion of the proximal phalanx of the thumb with the 1st metacarpal." [HPO:probinson] synonym: "Fusion of the innermost bone of the thumb with the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024262 is_a: HP:0005880 ! Metacarpophalangeal synostosis is_a: HP:0006152 ! Proximal symphalangism of hands is_a: HP:0009635 ! Synostosis of thumb phalanx is_a: HP:0009703 ! Synostosis involving the 1st metacarpal created_by: doelkens creation_date: 2009-01-29T05:17:08Z [Term] id: HP:0009641 name: Aplasia/Hypoplasia of the distal phalanx of the thumb synonym: "Absent/small outermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped outermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024261 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb created_by: doelkens creation_date: 2009-01-29T05:19:33Z [Term] id: HP:0009642 name: Broad distal phalanx of the thumb alt_id: HP:0004088 alt_id: HP:0006198 def: "Increased width of the distal phalanx of thumb." [HPO:sdoelken] synonym: "Broad outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Broad terminal thumb phalanx" EXACT [] synonym: "Wide distal phalanx of thumb" EXACT [] synonym: "Wide outermost bone of thumb" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1863402 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009836 ! Broad distal phalanx of finger is_a: HP:0011304 ! Broad thumb created_by: doelkens creation_date: 2009-01-29T05:19:33Z [Term] id: HP:0009643 name: Bullet-shaped distal phalanx of the thumb def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the thumb is affected." [HPO:probinson] synonym: "Bullet-shaped outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024260 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009652 ! Bullet-shaped thumb phalanx is_a: HP:0009837 ! Bullet-shaped distal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:19:33Z [Term] id: HP:0009644 name: Curved distal phalanx of the thumb def: "A deviation from the normal straight shape of the distal phalanx of the thumb." [HPO:probinson] synonym: "Curved outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024259 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009653 ! Curved thumb phalanx is_a: HP:0009838 ! Curved distal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:19:33Z [Term] id: HP:0009645 name: Osteolytic defect of the distal phalanx of the thumb def: "Dissolution or degeneration of bone tissue of the distal phalanx of the thumb." [HPO:probinson] synonym: "Osteolytic defects of the distal phalanx of the thumb" EXACT [] synonym: "Osteolytic defects of the outermost bone of the thumb" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4021417 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009654 ! Osteolytic defect of thumb phalanx is_a: HP:0009839 ! Osteolytic defects of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:19:33Z [Term] id: HP:0009646 name: Patchy sclerosis of the distal phalanx of the thumb def: "An uneven increase in bone density of the distal phalanx of the thumb." [HPO:probinson] synonym: "Uneven increase in bone density in the outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024258 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009655 ! Patchy sclerosis of thumb phalanx is_a: HP:0009840 ! Patchy sclerosis of distal phalanx of finger is_a: HP:0100912 ! Sclerosis of the distal phalanx of the thumb created_by: doelkens creation_date: 2009-01-29T05:19:33Z [Term] id: HP:0009648 name: Triangular shaped distal phalanx of the thumb def: "Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:probinson] synonym: "Triangular shaped outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024257 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009657 ! Triangular shaped thumb phalanx is_a: HP:0009875 ! Triangular shaped distal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:19:33Z [Term] id: HP:0009649 name: Aplasia of the distal phalanx of the thumb alt_id: HP:0004082 def: "Absence of the distal/terminal phalanx of the thumb." [HPO:curators] synonym: "Absence of the outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent ossification/absent terminal thumb phalanx" EXACT [] synonym: "Aplasia of the outermost bone of the thumb" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4021416 is_a: HP:0009641 ! Aplasia/Hypoplasia of the distal phalanx of the thumb is_a: HP:0009659 ! Partial absence of thumb is_a: HP:0009881 ! Aplasia of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:22:06Z [Term] id: HP:0009650 name: Short distal phalanx of the thumb alt_id: HP:0004085 alt_id: HP:0004087 def: "Hypoplastic (short) distal phalanx of the thumb." [HPO:sdoelken] synonym: "Hypoplastic terminal thumb phalanx" EXACT [] synonym: "Hypoplastic/small distal phalanx of the thumb" EXACT [] synonym: "Short outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short terminal thumb phalanx" EXACT [] synonym: "Short thumb terminal phalanx" EXACT [] synonym: "Small terminal thumb phalanx" EXACT [] xref: UMLS:C1862313 is_a: HP:0009641 ! Aplasia/Hypoplasia of the distal phalanx of the thumb is_a: HP:0009660 ! Short phalanx of the thumb is_a: HP:0009882 ! Short distal phalanx of finger created_by: doelkens creation_date: 2009-01-29T05:22:06Z [Term] id: HP:0009652 name: Bullet-shaped thumb phalanx def: "An abnormal morphology of one or more phalanges of the thumb, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped phalanges of the thumb" EXACT [] synonym: "Bullet-shaped thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021415 is_a: HP:0009602 ! Abnormality of thumb phalanx is_a: HP:0009769 ! Bullet-shaped phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:29:26Z [Term] id: HP:0009653 name: Curved thumb phalanx def: "A deviation from the normal straight shape of a thumb phalanx." [HPO:probinson] synonym: "Curved phalanges of the thumb" EXACT [] synonym: "Curved thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021414 is_a: HP:0004095 ! Curved fingers is_a: HP:0009602 ! Abnormality of thumb phalanx is_a: HP:0009770 ! Curved phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:29:26Z [Term] id: HP:0009654 name: Osteolytic defect of thumb phalanx def: "Dissolution or degeneration of bone tissue of one or more phalanges of the thumb." [HPO:probinson] comment: Osteolytic lesions are visible on radiography as demarcated areas of radiolucency ('darkness'). synonym: "Osteolytic defects of the phalanges of the thumb" EXACT [] xref: UMLS:C4020905 is_a: HP:0009602 ! Abnormality of thumb phalanx is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:29:26Z [Term] id: HP:0009655 name: Patchy sclerosis of thumb phalanx def: "An uneven increase in bone density of one or more of the phalanges of the thumb." [HPO:probinson] synonym: "Patchy sclerosis of the phalanges of the thumb" EXACT [] synonym: "Uneven increase in bone density in thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021413 is_a: HP:0009772 ! Patchy sclerosis of finger phalanx is_a: HP:0100922 ! Sclerosis of thumb phalanx created_by: doelkens creation_date: 2009-01-29T05:29:26Z [Term] id: HP:0009656 name: Symphalangism of the thumb alt_id: HP:0004068 alt_id: HP:0009639 alt_id: HP:0009647 def: "Congenital fusion (ankylosis) of the interphalangeal joint of the thumb." [HPO:probinson, pmid:22379556] comment: Symphalangism is caused by a failure of segmentation that occurs during early fetal development. synonym: "Fused thumb bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fused thumb phalanges" EXACT [] synonym: "Symphalangism of the distal and proximal phalanges of the thumb" EXACT [] xref: UMLS:C1834032 is_a: HP:0001204 ! Distal symphalangism of hands is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009635 ! Synostosis of thumb phalanx created_by: doelkens creation_date: 2009-01-29T05:29:26Z [Term] id: HP:0009657 name: Triangular shaped thumb phalanx alt_id: HP:0004072 def: "Abnormal shape of one or more phalanges of the thumb such that affected phalanges resemble a triangle." [HPO:probinson] comment: A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx (in this case metacarpal, see explanation above). synonym: "Triangular shaped phalanges of the thumb" EXACT [] synonym: "Triangular shaped thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular thumb phalanges" EXACT [] xref: UMLS:C4021412 is_a: HP:0009602 ! Abnormality of thumb phalanx created_by: doelkens creation_date: 2009-01-29T05:29:26Z [Term] id: HP:0009658 name: Aplasia/Hypoplasia of the phalanges of the thumb alt_id: HP:0005834 synonym: "Absent/small thumb bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped thumb bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024256 is_a: HP:0009602 ! Abnormality of thumb phalanx is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:29:26Z [Term] id: HP:0009659 name: Partial absence of thumb alt_id: HP:0004065 def: "The absence of a phalangeal segment of a thumb." [pmid:probinson] synonym: "Aplasia of the phalanges of the thumb" RELATED [] synonym: "Partial absence of thumb" EXACT layperson [] xref: UMLS:C4020780 xref: UMLS:C4024255 is_a: HP:0009601 ! Aplasia/Hypoplasia of the thumb is_a: HP:0009658 ! Aplasia/Hypoplasia of the phalanges of the thumb created_by: doelkens creation_date: 2009-01-29T05:35:50Z [Term] id: HP:0009660 name: Short phalanx of the thumb alt_id: HP:0004069 alt_id: HP:0004071 def: "Hypoplastic (short) thumb phalanx." [HPO:probinson] synonym: "Hypoplastic thumb phalanges" EXACT [] synonym: "Hypoplastic/small phalanges of the thumb" EXACT [] synonym: "Short thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short thumb phalanges" EXACT [] xref: UMLS:C4021411 is_a: HP:0009658 ! Aplasia/Hypoplasia of the phalanges of the thumb is_a: HP:0009778 ! Short thumb created_by: doelkens creation_date: 2009-01-29T05:35:50Z [Term] id: HP:0009662 name: Abnormality of the epiphysis of the distal phalanx of the thumb alt_id: HP:0004089 def: "Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx." [HPO:curators] synonym: "Abnormality of terminal thumb epiphysis" EXACT [] synonym: "Abnormality of the end part of the outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021410 is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger created_by: doelkens creation_date: 2009-01-29T05:49:31Z [Term] id: HP:0009663 name: Abnormality of the epiphysis of the proximal phalanx of the thumb def: "This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] synonym: "Abnormality of end part of thumb innermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024254 is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:49:31Z [Term] id: HP:0009664 name: Absent epiphysis of the proximal phalanx of the thumb def: "Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] synonym: "Absent end part of thumb innermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024253 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009686 ! Absent epiphyses of the thumb is_a: HP:0010257 ! Absent epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009665 name: Bracket epiphysis of the proximal phalanx of the thumb def: "An abnormality of the proximal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:probinson] synonym: "Bracket shaped end part of thumb innermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024252 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009687 ! Bracket epiphyses of the thumb is_a: HP:0010258 ! Bracket epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009666 name: Cone-shaped epiphysis of the proximal phalanx of the thumb def: "A cone-shaped appearance of the epiphysis of the middle phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] synonym: "Cone-shaped end part of thumb innermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024251 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009688 ! Cone-shaped epiphysis of the thumb is_a: HP:0010259 ! Cone-shaped epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009667 name: Enlarged epiphysis of the proximal phalanx of the thumb def: "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] synonym: "Enlarged end part of thumb innermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024250 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009689 ! Enlarged thumb epiphysis is_a: HP:0010260 ! Enlarged epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009668 name: Fragmentation of the epiphysis of the proximal phalanx of the thumb def: "Epiphysis of the proximal phalanx of the thumb having multiple bony fragments." [HPO:probinson] synonym: "Fragmentation of end part of thumb innermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024249 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009690 ! Fragmentation of thumb epiphysis is_a: HP:0010261 ! Fragmentation of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009669 name: Irregular epiphysis of the proximal phalanx of the thumb def: "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] synonym: "Irregular end part of thumb innermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024248 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009691 ! Irregular thumb epiphysis is_a: HP:0010262 ! Irregular epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009670 name: Ivory epiphysis of the proximal phalanx of the thumb def: "Sclerosis of the epiphysis of the proximal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:probinson] synonym: "Increased bone density of end part of the innermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024247 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009692 ! Ivory epiphysis of the thumb is_a: HP:0010263 ! Ivory epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009671 name: Pseudoepiphysis of the proximal phalanx of the thumb def: "A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the proximal phalanx of the thumb." [HPO:probinson] xref: UMLS:C4024246 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009693 ! Pseudoepiphysis of the thumb is_a: HP:0010264 ! Pseudoepiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009672 name: Small epiphysis of the proximal phalanx of the thumb def: "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms." [HPO:probinson] synonym: "Small end part of thumb innermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024245 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009694 ! Small thumb epiphysis is_a: HP:0010265 ! Small epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009673 name: Stippling of the epiphysis of the proximal phalanx of the thumb def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:probinson] synonym: "Speckled calcifications in end part of thumb innermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024244 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009695 ! Stippling of thumb epiphysis is_a: HP:0010266 ! Stippling of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009674 name: Triangular epiphysis of the proximal phalanx of the thumb def: "A triangular appearance of the epiphysis of the proximal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] synonym: "Triangular end part of thumb innermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024243 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009696 ! Triangular epiphyses of the thumb is_a: HP:0010267 ! Triangular epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009675 name: Absent epiphysis of the distal phalanx of the thumb def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb." [HPO:curators] synonym: "Absent end part of thumb outermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024242 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009686 ! Absent epiphyses of the thumb is_a: HP:0010246 ! Absent epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009676 name: Bracket epiphysis of the distal phalanx of the thumb def: "An abnormality of the distal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:probinson] synonym: "Bracket shaped end part of thumb outermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024241 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009687 ! Bracket epiphyses of the thumb is_a: HP:0010247 ! Bracket epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009677 name: Cone-shaped epiphysis of the distal phalanx of the thumb alt_id: HP:0004091 def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:probinson] synonym: "Cone-shaped end part of thumb outermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cone-shaped terminal thumb phalanx epiphysis" EXACT [] xref: UMLS:C4021409 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009688 ! Cone-shaped epiphysis of the thumb is_a: HP:0010248 ! Cone-shaped epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009678 name: Enlarged epiphysis of the distal phalanx of the thumb alt_id: HP:0004092 def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms." [HPO:curators] synonym: "Enlarged end part of thumb outermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Large terminal thumb phalanx epiphysis" EXACT [] xref: UMLS:C4021408 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009689 ! Enlarged thumb epiphysis is_a: HP:0010249 ! Enlarged epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009679 name: Fragmentation of the epiphysis of the distal phalanx of the thumb def: "Epiphysis of the distal phalanx of the thumb having multiple bony fragments." [HPO:probinson] synonym: "Fragmentation of end part thumb outermost long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024240 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009690 ! Fragmentation of thumb epiphysis is_a: HP:0010250 ! Fragmentation of the epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009680 name: Irregular epiphysis of the distal phalanx of the thumb def: "Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb." [HPO:probinson] synonym: "Irregular end part of thumb outermost bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024239 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009691 ! Irregular thumb epiphysis is_a: HP:0010251 ! Irregular epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009681 name: Ivory epiphysis of the distal phalanx of the thumb def: "Sclerosis of the epiphysis of the distal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:probinson] synonym: "Increased bone density of end part of the outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024238 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009692 ! Ivory epiphysis of the thumb is_a: HP:0010252 ! Ivory epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009682 name: Pseudoepiphysis of the distal phalanx of the thumb def: "A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb." [HPO:probinson] synonym: "Pseudoepiphysis of the outermost bone of the thumb" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4024237 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009693 ! Pseudoepiphysis of the thumb is_a: HP:0010253 ! Pseudoepiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009683 name: Small epiphysis of the distal phalanx of the thumb def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms." [HPO:probinson] synonym: "Small end part of thumb outermost bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024236 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009694 ! Small thumb epiphysis is_a: HP:0010254 ! Small epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009684 name: Stippling of the epiphysis of the distal phalanx of the thumb def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb." [HPO:probinson] synonym: "Speckled calcifications in the end part of the outermost thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024235 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009695 ! Stippling of thumb epiphysis is_a: HP:0010255 ! Stippling of the epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009685 name: Triangular epiphysis of the distal phalanx of the thumb def: "A triangular appearance of the epiphysis of the distal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Triangular end part of thumb outermost bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular epiphysis of the outermost bone of the thumb" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4024234 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009696 ! Triangular epiphyses of the thumb is_a: HP:0010256 ! Triangular epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009686 name: Absent epiphyses of the thumb def: "Absence of one or more epiphyses of the thumb." [HPO:curators] synonym: "Absent end part of thumb outermost bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024233 is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009687 name: Bracket epiphyses of the thumb def: "An abnormality of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators] synonym: "Bracket shaped end part of the thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024232 is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009688 name: Cone-shaped epiphysis of the thumb alt_id: HP:0004075 def: "A cone-shaped appearance of the epiphyses of the thumb, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:probinson] synonym: "Cone-shaped end part of thumb long bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cone-shaped epiphyses of the thumb" EXACT [] synonym: "Cone-shaped thumb epiphyses" EXACT [] xref: UMLS:C4021407 is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009689 name: Enlarged thumb epiphysis def: "Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms." [HPO:probinson] synonym: "Enlarged end part of thumb long bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Enlarged epiphyses of the thumb" EXACT [] xref: UMLS:C4021406 is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009690 name: Fragmentation of thumb epiphysis def: "Epiphysis of the thumb having multiple bony fragments." [HPO:probinson] synonym: "Fragmentation of end part of long bone of thumb" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Fragmentation of the epiphyses of the thumb" EXACT [] xref: UMLS:C4021405 is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009691 name: Irregular thumb epiphysis def: "Uneven radiographic opacity of the one or more epiphyses of the thumb." [HPO:probinson] synonym: "Irregular end part of thumb long bone" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Irregular epiphyses of the thumb" EXACT [] xref: UMLS:C4021404 is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009692 name: Ivory epiphysis of the thumb def: "Sclerosis of one or more of the epiphyses of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:probinson] synonym: "Increased bone density of end part of the thumb" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Ivory epiphyses of the thumb" EXACT [] xref: UMLS:C4021403 is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand is_a: HP:0100922 ! Sclerosis of thumb phalanx created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009693 name: Pseudoepiphysis of the thumb def: "A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb." [HPO:probinson] synonym: "Pseudoepiphyses of the thumb" EXACT [] xref: UMLS:C3552484 is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009694 name: Small thumb epiphysis def: "Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms." [HPO:probinson] synonym: "Small end part of thumb long bone" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Small epiphyses of the thumb" EXACT [] xref: UMLS:C4021402 is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009695 name: Stippling of thumb epiphysis def: "The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb." [HPO:probinson] synonym: "Speckled calcifications in end part of thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Stippling of the epiphyses of the thumb" EXACT [] xref: UMLS:C4021401 is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009696 name: Triangular epiphyses of the thumb synonym: "Triangular end part of the thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024231 is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009697 name: Contracture of the distal interphalangeal joint of the fingers def: "Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers." [HPO:probinson] xref: UMLS:C4024230 is_a: HP:0001220 ! Interphalangeal joint contracture of finger created_by: doelkens creation_date: 2009-01-30T04:01:28Z [Term] id: HP:0009699 name: Osteolytic defects of the hand bones alt_id: HP:0004282 alt_id: HP:0006082 synonym: "Lytic defects of hand bones" EXACT [] xref: UMLS:C4021400 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0045039 ! Osteolysis involving bones of the upper limbs created_by: doelkens creation_date: 2009-01-30T04:08:52Z [Term] id: HP:0009700 name: Finger symphalangism def: "An abnormal union between bones or parts of bones of the fingers. The synonymous term \"symphalangism of the hand\" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as \"Symphalangism\" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as \"bony\" Syndactyly." [HPO:sdoelken] synonym: "Fused finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Symphalangism of the hand" EXACT [HPO:curators] synonym: "Synostosis involving bones of the fingers" EXACT [] xref: UMLS:C4021399 is_a: HP:0004278 ! Synostosis involving bones of the hand is_a: HP:0100262 ! Synostosis involving digits created_by: doelkens creation_date: 2009-01-30T04:12:24Z [Term] id: HP:0009701 name: Metacarpal synostosis alt_id: HP:0005915 alt_id: HP:0006041 def: "Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx)." [HPO:probinson] subset: hposlim_core synonym: "Fused long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Synostosis involving metacarpal bones" EXACT [] synonym: "Synostosis involving the metacarpal bones" EXACT [] xref: UMLS:C4021398 is_a: HP:0004278 ! Synostosis involving bones of the hand is_a: HP:0005916 ! Abnormal metacarpal morphology is_a: HP:0100265 ! Synostosis of metacarpals/metatarsals created_by: doelkens creation_date: 2009-01-30T04:13:07Z [Term] id: HP:0009702 name: Carpal synostosis alt_id: HP:0001192 alt_id: HP:0005799 def: "Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform)." [HPO:probinson] subset: hposlim_core synonym: "Carpal bone fusion" EXACT [] synonym: "Carpal fusion" EXACT [] synonym: "Fused carpal bones" EXACT [] synonym: "Fused wrist bones" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Synostosis involving the carpal bones" EXACT [] xref: SNOMEDCT_US:253930002 xref: UMLS:C0431863 is_a: HP:0001191 ! Abnormality of the carpal bones is_a: HP:0004278 ! Synostosis involving bones of the hand is_a: HP:0100266 ! Synostosis of carpals/tarsals created_by: doelkens creation_date: 2009-01-30T04:25:10Z [Term] id: HP:0009703 name: Synostosis involving the 1st metacarpal alt_id: HP:0005614 alt_id: HP:0010032 def: "Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] synonym: "First metacarpophalangeal joint synostosis" EXACT [] synonym: "Fusion involving 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Symphalangism affecting the 1st metacarpal" EXACT [] xref: UMLS:C4021397 is_a: HP:0009701 ! Metacarpal synostosis is_a: HP:0010009 ! Abnormality of the 1st metacarpal created_by: doelkens creation_date: 2009-01-30T04:26:41Z [Term] id: HP:0009704 name: Chronic CSF lymphocytosis def: "Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter." [HPO:probinson] synonym: "Chronic cerebrospinal fluid lymphocytosis" EXACT [] xref: UMLS:C4024229 is_a: HP:0200149 ! CSF lymphocytic pleiocytosis created_by: peter creation_date: 2009-01-30T06:24:59Z [Term] id: HP:0009705 name: Synostosis involving the 2nd metacarpal synonym: "Fusion involving the 2nd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024228 is_a: HP:0009701 ! Metacarpal synostosis is_a: HP:0010010 ! Abnormality of the 2nd metacarpal created_by: doelkens creation_date: 2009-01-30T04:32:03Z [Term] id: HP:0009706 name: Synostosis involving the 3rd metacarpal synonym: "Fusion involving the 3rd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024227 is_a: HP:0009701 ! Metacarpal synostosis is_a: HP:0010011 ! Abnormality of the 3rd metacarpal created_by: doelkens creation_date: 2009-01-30T04:32:03Z [Term] id: HP:0009707 name: Synostosis involving the 4th metacarpal synonym: "Fusion involving the 4th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024226 is_a: HP:0009701 ! Metacarpal synostosis is_a: HP:0010012 ! Abnormality of the 4th metacarpal created_by: doelkens creation_date: 2009-01-30T04:32:03Z [Term] id: HP:0009708 name: Synostosis involving the 5th metacarpal synonym: "Fusion involving the 5th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024225 is_a: HP:0009701 ! Metacarpal synostosis is_a: HP:0010013 ! Abnormality of the 5th metacarpal created_by: doelkens creation_date: 2009-01-30T04:32:03Z [Term] id: HP:0009709 name: Increased CSF interferon alpha def: "Increased concentration of interferon alpha in the cerebrospinal fluid (CSF)." [HPO:curators] xref: UMLS:C1856983 is_a: HP:0025454 ! Abnormal CSF metabolite level created_by: peter creation_date: 2009-01-30T06:27:06Z [Term] id: HP:0009710 name: Chilblains def: "Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks." [HPO:probinson, PMID:1832531, PMID:22025653] synonym: "Chilblain lesions" EXACT [] xref: UMLS:C4024224 is_a: HP:0001167 ! Abnormality of finger created_by: peter creation_date: 2009-01-30T07:26:24Z [Term] id: HP:0009711 name: Retinal capillary hemangioma def: "A benign vascular tumor of the retina without any neoplastic characteristics." [HPO:probinson] subset: hposlim_core synonym: "Retinal hemangioblastoma" EXACT [] xref: NCIT:C3801 xref: SNOMEDCT_US:312935003 xref: UMLS:C0730303 xref: UMLS:C1514915 is_a: HP:0001028 ! Hemangioma is_a: HP:0009594 ! Retinal hamartoma is_a: HP:0010797 ! Hemangioblastoma created_by: peter creation_date: 2009-01-30T11:08:05Z [Term] id: HP:0009713 name: Spinal hemangioblastoma def: "A 'hemangioblastoma of the spinal cord." [HPO:curators] xref: NCIT:C3801 xref: UMLS:C4024223 is_a: HP:0010302 ! Spinal cord tumor is_a: HP:0010797 ! Hemangioblastoma created_by: peter creation_date: 2009-01-30T11:24:31Z [Term] id: HP:0009714 name: Abnormality of the epididymis def: "An abnormality of the epididymis." [HPO:probinson] comment: The epididymis is the structure that connects efferent ductules to vas deferens. xref: UMLS:C4024222 is_a: HP:0000022 ! Abnormality of male internal genitalia created_by: peter creation_date: 2009-01-30T11:44:43Z [Term] id: HP:0009715 name: Papillary cystadenoma of the epididymis alt_id: HP:0030422 def: "A cystadenoma, an epithelial tumor, that originates within the head of the epididymis." [HPO:probinson, pmid:24441657] comment: Papillary cystadenomas of the epididymis are partially or completely cystic or solid lesions, between 1-3 cm in diameter and arise from the efferent duct epithelium of the head of epididymis. xref: NCIT:C2974 xref: UMLS:C4024221 is_a: HP:0009714 ! Abnormality of the epididymis is_a: HP:0030421 ! Epididymal neoplasm created_by: peter creation_date: 2009-01-30T11:46:33Z [Term] id: HP:0009716 name: Subependymal nodules def: "Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis or nodular heterotopia of grey matter." [HPO:curators] xref: UMLS:C1968958 is_a: HP:0002118 ! Abnormality of the cerebral ventricles is_a: HP:0009731 ! Cerebral hamartoma created_by: peter creation_date: 2009-01-30T11:57:28Z [Term] id: HP:0009717 name: Cortical tubers def: "Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients." [HPO:curators] xref: UMLS:C1968959 is_a: HP:0002538 ! Abnormality of the cerebral cortex is_a: HP:0009731 ! Cerebral hamartoma created_by: peter creation_date: 2009-01-31T12:03:16Z [Term] id: HP:0009718 name: Subependymal giant-cell astrocytoma def: "A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis." [HPO:curators] xref: MSH:D001254 xref: SNOMEDCT_US:1586004 xref: SNOMEDCT_US:449799008 xref: UMLS:C0205768 is_a: HP:0009592 ! Astrocytoma created_by: peter creation_date: 2009-01-31T12:07:02Z [Term] id: HP:0009719 name: Hypomelanotic macule def: "Hypomelanotic macules (\"ash leaf spots\") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis." [HPO:probinson, pmid:10695583] comment: While hypopigmentation is a general term that refers to any form of decreased or absent skin pigmentation, hypomelanosis more specifically refers to a reduction of epidermal melanin. synonym: "Hypomelanotic macules" EXACT HP:0045078 [] xref: UMLS:C4024220 is_a: HP:0001010 ! Hypopigmentation of the skin is_a: HP:0020073 ! Hypopigmented macule created_by: peter creation_date: 2009-01-31T12:16:52Z [Term] id: HP:0009720 name: Adenoma sebaceum def: "The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin." [HPO:probinson] comment: Facial angiofibromas, also known as adenoma sebaceum, are reddish papillary lesions (fibrous skin tumors) that are found around the nose, cheeks, and chin and considered to be characteristic of tuberous sclerosis. synonym: "Facial angiofibromas" EXACT [] synonym: "Sebaceous adenoma" EXACT [] synonym: "Sebaceous adenomas" RELATED [HPO:skoehler] xref: MSH:D014402 xref: SNOMEDCT_US:36025004 xref: SNOMEDCT_US:78424008 xref: UMLS:C0265319 xref: UMLS:C1368816 is_a: HP:0008069 ! Neoplasm of the skin is_a: HP:0010615 ! Angiofibromas is_a: HP:0011799 ! Abnormality of facial soft tissue created_by: peter creation_date: 2009-01-31T12:19:37Z [Term] id: HP:0009721 name: Shagreen patch def: "A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled, The word shagreen refers to a type of roughened untanned leather." [HPO:curators, pmid:10695583] subset: hposlim_core xref: SNOMEDCT_US:254244007 xref: UMLS:C0432363 is_a: HP:0100898 ! Connective tissue nevi created_by: peter creation_date: 2009-01-31T09:36:32Z [Term] id: HP:0009722 name: Dental enamel pits def: "The presence of small depressions in the dental enamel." [HPO:curators] synonym: "Dental enamel pits" EXACT layperson [] synonym: "Dental enamel pitting" EXACT [] synonym: "Pitting of tooth enamel" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Tooth enamel pits" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1860711 is_a: HP:0000682 ! Abnormality of dental enamel created_by: peter creation_date: 2009-01-31T09:44:34Z [Term] id: HP:0009723 name: Abnormality of the subungual region def: "A lesion located beneath a fingernail or toenail." [HPO:curators] xref: UMLS:C4024219 is_a: HP:0001597 ! Abnormality of the nail created_by: peter creation_date: 2009-01-31T09:49:06Z [Term] id: HP:0009724 name: Subungual fibromas def: "The presence of fibromata beneath finger or toenails." [HPO:curators] synonym: "Subungual fibroma" RELATED [] xref: SNOMEDCT_US:39295002 xref: UMLS:C0266003 is_a: HP:0009723 ! Abnormality of the subungual region is_a: HP:0010614 ! Fibroma created_by: peter creation_date: 2009-01-31T09:49:51Z [Term] id: HP:0009725 name: Bladder neoplasm def: "The presence of a neoplasm of the urinary bladder." [HPO:probinson] synonym: "Bladder cancer" EXACT [] synonym: "Bladder tumor" RELATED [] xref: MSH:D001749 xref: NCIT:C3262 xref: SNOMEDCT_US:126885006 xref: UMLS:C0005695 is_a: HP:0010786 ! Urinary tract neoplasm created_by: peter creation_date: 2009-01-31T10:43:55Z [Term] id: HP:0009726 name: Renal neoplasm alt_id: HP:0005933 def: "The presence of a neoplasm of the kidney." [HPO:probinson] synonym: "Kidney cancer" BROAD layperson [] synonym: "Neoplasia of the kidneys" EXACT [] synonym: "Renal neoplasia" RELATED [] synonym: "Renal tumors" EXACT layperson [] xref: MSH:D007680 xref: NCIT:C3262 xref: SNOMEDCT_US:126880001 xref: UMLS:C0022665 xref: UMLS:C1378703 is_a: HP:0000077 ! Abnormality of the kidney is_a: HP:0010786 ! Urinary tract neoplasm created_by: peter creation_date: 2009-01-31T10:41:48Z [Term] id: HP:0009727 name: Achromatic retinal patches def: "Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina." [HPO:probinson, pmid:11264130] synonym: "Punched out areas of chorioretinal hypopigmentation" EXACT [] xref: UMLS:C1860710 is_a: HP:0007894 ! Hypopigmentation of the fundus created_by: peter creation_date: 2009-01-31T10:49:15Z [Term] id: HP:0009728 name: Neoplasm of striated muscle def: "A benign or malignant neoplasm (tumour) originating in striated muscle, either skeletal muscle or cardiac muscle." [HPO:sdoelken] synonym: "Tumors of striated muscle" EXACT [] xref: NCIT:C3262 xref: UMLS:C4021396 is_a: HP:0003011 ! Abnormality of the musculature is_a: HP:0011793 ! Neoplasm by anatomical site created_by: peter creation_date: 2009-01-31T10:52:25Z [Term] id: HP:0009729 name: Cardiac rhabdomyoma def: "A benign tumor of cardiac striated muscle." [HPO:curators] xref: UMLS:C1332852 is_a: HP:0009730 ! Rhabdomyoma is_a: HP:0100544 ! Neoplasm of the heart created_by: peter creation_date: 2009-01-31T10:53:11Z [Term] id: HP:0009730 name: Rhabdomyoma def: "A benign tumor of striated muscle." [HPO:probinson] xref: MSH:D012207 xref: NCIT:C3358 xref: SNOMEDCT_US:302846007 xref: SNOMEDCT_US:402877008 xref: SNOMEDCT_US:43375002 xref: UMLS:C0035411 is_a: HP:0009728 ! Neoplasm of striated muscle created_by: peter creation_date: 2009-01-31T10:54:01Z [Term] id: HP:0009731 name: Cerebral hamartoma def: "The presence of a hamartoma of the cerebrum." [HPO:probinson] comment: Hamartomatous lesions (benign focal lesions composed of disorganized tissue elements) affecting and sometimes originating from the cerebrum. synonym: "Cerebral hamartomata" EXACT [] xref: UMLS:C4024218 is_a: HP:0010566 ! Hamartoma is_a: HP:0100835 ! Benign neoplasm of the central nervous system created_by: peter creation_date: 2009-01-31T11:02:09Z [Term] id: HP:0009732 name: Plexiform neurofibroma def: "A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure." [HPO:curators] xref: MSH:D018318 xref: SNOMEDCT_US:403818001 xref: SNOMEDCT_US:41252002 xref: UMLS:C0206728 is_a: HP:0001067 ! Neurofibromas created_by: peter creation_date: 2009-01-31T11:12:32Z [Term] id: HP:0009733 name: Glioma def: "The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes)." [HPO:probinson] comment: Gliomas can be classified as 1) ependymomas, 2) astrocytomas (including glioblastoma multiforme), 3 oligodendrogliomas, and 4) mixed gliomas, such as oligoastrocytomas. xref: MSH:D005910 xref: NCIT:C3059 xref: SNOMEDCT_US:115240006 xref: SNOMEDCT_US:393564001 xref: SNOMEDCT_US:74532006 xref: UMLS:C0017638 is_a: HP:0030063 ! Neuroepithelial neoplasm is_a: HP:0100705 ! Abnormality of the glial cells is_a: HP:0100836 ! Malignant neoplasm of the central nervous system created_by: peter creation_date: 2009-01-31T11:15:22Z [Term] id: HP:0009734 name: Optic nerve glioma def: "A glioma originating in the optic nerve or optic chiasm." [HPO:curators] synonym: "Optic glioma" EXACT [] xref: MSH:D020339 xref: SNOMEDCT_US:254976006 xref: SNOMEDCT_US:404662003 xref: UMLS:C0346326 is_a: HP:0009733 ! Glioma created_by: peter creation_date: 2009-01-31T11:17:13Z [Term] id: HP:0009735 name: Spinal neurofibromas alt_id: HP:0007077 def: "Neurofibromas originating in the spine." [HPO:probinson] comment: Spinal neurofibromas can affect the spinal cord or the spinal nerve roots. Spinal neurofibromas can occur at cervical, thoracic, lumbar, and sacral levels. xref: UMLS:C4024217 is_a: HP:0001067 ! Neurofibromas created_by: peter creation_date: 2009-01-31T11:19:24Z [Term] id: HP:0009736 name: Tibial pseudoarthrosis def: "Pseudarthrosis, or \"false joint\" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life." [HPO:probinson, PMID:30996736] xref: UMLS:C4024216 is_a: HP:0002992 ! Abnormality of tibia morphology is_a: HP:0005864 ! Pseudoarthrosis created_by: peter creation_date: 2009-01-31T11:22:24Z [Term] id: HP:0009737 name: Lisch nodules def: "The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris.." [HPO:probinson] subset: hposlim_core synonym: "Iris hamartomas" EXACT [] xref: UMLS:C1860334 is_a: HP:0000525 ! Abnormality iris morphology is_a: HP:0010568 ! Hamartoma of the eye created_by: peter creation_date: 2009-01-31T11:45:04Z [Term] id: HP:0009738 name: Abnormality of the antihelix def: "An abnormality of the antihelix." [HPO:probinson] comment: An abnormal form of the antihelix, which is the curved prominence of cartilage, parallel with and in front of the helix, and which divides into the crura antihelicis, between which is a triangular depression, the fossa triangularis. subset: hposlim_core synonym: "Abnormal antehelix" EXACT [] synonym: "Abnormal anthelix" EXACT [] synonym: "Abnormal antihelix" EXACT [] xref: UMLS:C4021395 is_a: HP:0000377 ! Abnormality of the pinna created_by: peter creation_date: 2009-01-31T12:39:37Z [Term] id: HP:0009739 name: Hypoplasia of the antihelix def: "Developmental hypoplasia of the antihelix." [HPO:probinson] synonym: "Hypoplastic antihelix" EXACT [] xref: UMLS:C4021394 is_a: HP:0009738 ! Abnormality of the antihelix created_by: peter creation_date: 2009-01-31T12:41:43Z [Term] id: HP:0009740 name: Aplasia of the parotid gland def: "Absence of the parotid gland." [HPO:curators] synonym: "Abnormally small parotid gland" EXACT [ORCID:0000-0001-5889-4463] synonym: "Absence of the parotid gland" RELATED [] synonym: "Hypoplasia of parotid gland" RELATED [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of parotid gland" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1400252 xref: UMLS:C4020779 xref: UMLS:C4024215 is_a: HP:0000197 ! Abnormal parotid gland morphology created_by: peter creation_date: 2009-01-31T12:51:47Z [Term] id: HP:0009741 name: Nephrosclerosis def: "Nephrosclerosis refers to thickening or scarring (\"sclerosis\") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries." [HPO:curators] synonym: "Scarring of kidney arteries" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Thickening of kidney artiries" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D009400 xref: SNOMEDCT_US:32916005 xref: UMLS:C0027719 is_a: HP:0012210 ! Abnormal renal morphology created_by: peter creation_date: 2009-01-31T01:15:08Z [Term] id: HP:0009742 name: Stiff shoulders def: "Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity." [HPO:probinson] synonym: "Stiff shoulders" EXACT layperson [] xref: SNOMEDCT_US:249918006 xref: UMLS:C0241042 is_a: HP:0001387 ! Joint stiffness is_a: HP:0003043 ! Abnormality of the shoulder created_by: peter creation_date: 2009-01-31T02:02:05Z [Term] id: HP:0009743 name: Distichiasis def: "Double rows of eyelashes." [HPO:probinson] comment: Distichiasis can be defined as the abnormal growth of lashes from the orifices of the Meibomian glands on the posterior lamella of the tarsal plate, resulting in a double row of eyelashes. subset: hposlim_core synonym: "Distichiasis of eyelid eyelashes" EXACT [] xref: SNOMEDCT_US:95339000 xref: UMLS:C0423848 is_a: HP:0008496 ! Multiple rows of eyelashes created_by: peter creation_date: 2009-01-31T02:07:50Z [Term] id: HP:0009744 name: Abnormal spinal dura mater morphology def: "An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord." [HPO:curators] synonym: "Abnormality of the spinal dura mater" EXACT [] xref: UMLS:C4024214 is_a: HP:0010303 ! Abnormal spinal meningeal morphology is_a: HP:0010652 ! Abnormal dura mater morphology created_by: peter creation_date: 2009-01-31T02:20:51Z [Term] id: HP:0009745 name: Spinalarachnoid cyst def: "Presence of arachnoid cysts of the spinal canal extradurally in the epidural space." [HPO:probinson] synonym: "Epidural arachnoid cysts of the spinal canal" EXACT [] xref: UMLS:C4021393 is_a: HP:0010303 ! Abnormal spinal meningeal morphology is_a: HP:0100702 ! Arachnoid cyst created_by: peter creation_date: 2009-01-31T02:22:38Z [Term] id: HP:0009746 name: Thick nasal septum def: "Abnormally increased thickness of the nasal septum." [HPO:curators] synonym: "Broad nasal septum" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Broad septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Thick nasal septum" EXACT layperson [] synonym: "Thick septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Wide nasal septum" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Wide septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1844810 is_a: HP:0000419 ! Abnormality of the nasal septum created_by: peter creation_date: 2009-01-31T02:44:09Z [Term] id: HP:0009747 name: Lumbosacral hirsutism def: "Abnormally increased hair growth in the lumbosacral region." [HPO:curators] xref: UMLS:C1851095 is_a: HP:0009889 ! Localized hirsutism created_by: peter creation_date: 2009-01-31T03:21:52Z [Term] id: HP:0009748 name: Large earlobe alt_id: HP:0004449 alt_id: HP:0004456 def: "Increased volume of the earlobe, that is, abnormally prominent ear lobules." [HPO:probinson, pmid:19152421] comment: All gradations in size of the earlobe may be seen from absent to clearly enlarged compared to average. This finding is highly variable. Lobe size increases throughout adulthood. subset: hposlim_core synonym: "Fleshy earlobe" EXACT layperson [] synonym: "Fleshy earlobes" EXACT layperson [] synonym: "Large earlobe" EXACT layperson [] synonym: "Prominent ear lobes" EXACT layperson [] synonym: "prominent ear lobules" EXACT layperson [] xref: UMLS:C1844573 is_a: HP:0000363 ! Abnormality of earlobe created_by: peter creation_date: 2009-01-31T04:02:42Z [Term] id: HP:0009751 name: Aplasia of the pectoralis major muscle def: "Absence of the pectoralis major muscle." [HPO:curators] synonym: "Absent pectoralis major muscle" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4024213 is_a: HP:0005258 ! Pectoral muscle hypoplasia/aplasia is_a: HP:0100854 ! Aplasia of the musculature created_by: peter creation_date: 2009-01-31T05:18:55Z [Term] id: HP:0009752 name: Cleft in skull base def: "A bony defect in the skull base." [HPO:curators] synonym: "Cleft in cranial base" EXACT [ORCID:0000-0001-5889-4463] synonym: "Cleft in skull base" EXACT layperson [] xref: UMLS:C1856027 is_a: HP:0002693 ! Abnormality of the skull base created_by: peter creation_date: 2009-01-31T05:45:00Z [Term] id: HP:0009754 name: Fibrous syngnathia def: "Complete or nearly complete soft tissue fusion of the alveolar ridges." [pmid:19125428] comment: This finding is associated with severely reduced mobility, or lack of mobility, between the upper and lower jaws. This finding is the severe end of a spectrum that includes oral synechiae. subset: hposlim_core synonym: "Alveolar synechiae" EXACT [ORCID:0000-0001-5889-4463] synonym: "Fusion of the alveolar ridges" EXACT [] xref: UMLS:C4021392 is_a: HP:0000277 ! Abnormality of the mandible is_a: HP:0006477 ! Abnormality of the alveolar ridges created_by: peter creation_date: 2009-01-31T08:50:29Z [Term] id: HP:0009755 name: Ankyloblepharon def: "Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue." [pmid:18125427] comment: A minimally expressed form, especially when located fully laterally, may be more difficult to ascertain and would be a subjective feature. A band may break and leave no evidence of its presence. Note that the term is distinct from cryptophthalmos. subset: hposlim_core synonym: "Adhesion of eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Ankyloblepharon filiforme adnatum" EXACT [] synonym: "Eyelid synechiae" EXACT [] synonym: "Eyelids stuck together" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:C536373 xref: SNOMEDCT_US:193953008 xref: SNOMEDCT_US:400952003 xref: UMLS:C0339182 xref: UMLS:C1302999 is_a: HP:0000492 ! Abnormal eyelid morphology created_by: peter creation_date: 2009-01-31T08:52:59Z [Term] id: HP:0009756 name: Popliteal pterygium def: "A pterygium (or pterygia) occurring in the popliteal region (the back of the knee)." [HPO:probinson] subset: hposlim_core xref: UMLS:C3805420 is_a: HP:0001059 ! Pterygium created_by: peter creation_date: 2009-01-31T08:54:18Z [Term] id: HP:0009757 name: Intercrural pterygium def: "A pterygium (or pterygia) in the intercrural (groin) region." [HPO:curators] xref: UMLS:C3810471 is_a: HP:0001059 ! Pterygium created_by: peter creation_date: 2009-01-31T08:58:49Z [Term] id: HP:0009758 name: Pyramidal skinfold extending from the base to the top of the nails def: "Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome." [HPO:curators] xref: UMLS:C4024212 is_a: HP:0001597 ! Abnormality of the nail created_by: peter creation_date: 2009-01-31T09:08:49Z [Term] id: HP:0009759 name: Neck pterygia def: "Pterygia affecting the neck." [HPO:curators] synonym: "Neck pterygium" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C1849577 is_a: HP:0001059 ! Pterygium created_by: peter creation_date: 2009-01-31T10:10:09Z [Term] id: HP:0009760 name: Antecubital pterygium def: "Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric." [HPO:probinson] subset: hposlim_core synonym: "Pterygium cubitale" EXACT [] synonym: "Webbed elbow" EXACT [] xref: MSH:C566738 xref: UMLS:C1867439 is_a: HP:0001059 ! Pterygium created_by: peter creation_date: 2009-01-31T10:12:24Z [Term] id: HP:0009761 name: Anterior clefting of vertebral bodies def: "Anterior schisis (cleft or cleavage) of vertebral bodies." [HPO:probinson] xref: UMLS:C1849579 is_a: HP:0008428 ! Vertebral clefting created_by: peter creation_date: 2009-01-31T10:40:39Z [Term] id: HP:0009762 name: Facial wrinkling def: "Excessive wrinkling of the skin of the face." [HPO:curators] synonym: "Facial wrinkling" EXACT layperson [] xref: SNOMEDCT_US:248194004 xref: UMLS:C0262478 is_a: HP:0100678 ! Premature skin wrinkling created_by: peter creation_date: 2009-02-01T03:12:09Z [Term] id: HP:0009763 name: Limb pain def: "Chronic pain in the limbs with no clear focal etiology." [HPO:probinson] synonym: "Limb pain" EXACT layperson [] synonym: "Pain in extremities" RELATED layperson [] xref: SNOMEDCT_US:90834002 xref: UMLS:C0030196 is_a: HP:0011843 ! Abnormality of skeletal physiology is_a: HP:0012531 ! Pain created_by: peter creation_date: 2009-02-01T03:55:10Z [Term] id: HP:0009765 name: Low hanging columella alt_id: HP:0009766 def: "Columella extending inferior to the level of the nasal base, when viewed from the side." [pmid:19152422] synonym: "Columella extends below the ala nasi" RELATED [] synonym: "Columella, low" EXACT [] synonym: "Columella, low hanging" EXACT [] synonym: "Extension of the columella below the ala nasi" EXACT [] synonym: "Low-hanging columella" EXACT [] synonym: "Prominent columella" RELATED [] synonym: "Rounded columella" RELATED [ORCID:0000-0001-5889-4463] xref: UMLS:C1856119 xref: UMLS:C4280395 is_a: HP:0009929 ! Abnormality of the columella created_by: peter creation_date: 2009-02-01T11:01:14Z [Term] id: HP:0009767 name: Aplasia/Hypoplasia of the phalanges of the hand alt_id: HP:0006056 alt_id: HP:0006100 alt_id: HP:0009801 def: "Small or missing phalangeal bones of the fingers of the hand." [HPO:probinson] synonym: "Aplastic/hypoplastic phalanges" EXACT [] synonym: "Aplastic/hypoplastic phalanges of the hand" EXACT [] synonym: "Hypoplastic/absent phalanges" EXACT [] xref: UMLS:C1848670 is_a: HP:0005918 ! Abnormal finger phalanx morphology created_by: doelkens creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009768 name: Broad phalanges of the hand alt_id: HP:0001246 alt_id: HP:0006260 def: "Increased width of the phalanges of the hand." [HPO:curators] synonym: "Wide hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Widening of phalanges of the hand" EXACT [] xref: UMLS:C4021391 is_a: HP:0001500 ! Broad finger is_a: HP:0005918 ! Abnormal finger phalanx morphology is_a: HP:0006009 ! Broad phalanx is_a: HP:0040065 ! Abnormal morphology of bones of the upper limbs created_by: doelkens creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009769 name: Bullet-shaped phalanges of the hand alt_id: HP:0004270 alt_id: HP:0006139 def: "The presence of short and wide phalanges which taper distally (\"bullet shaped\")." [HPO:curators] synonym: "Bullet-shaped hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bullet-shaped phalanges of the hands" EXACT [] synonym: "Conical bullet-shaped distal ends of phalanges" EXACT [] xref: UMLS:C1854952 is_a: HP:0005918 ! Abnormal finger phalanx morphology created_by: doelkens creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009770 name: Curved phalanges of the hand synonym: "Curved hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024211 is_a: HP:0005918 ! Abnormal finger phalanx morphology created_by: doelkens creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009771 name: Osteolytic defects of the phalanges of the hand alt_id: HP:0001179 def: "Dissolution or degeneration of bone tissue of the phalanges of the hand." [HPO:curators] synonym: "Acro-osteolysis" EXACT [] synonym: "Acroosteolysis" EXACT [] synonym: "Breakdown of small bones of fingers" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:D030981 xref: SNOMEDCT_US:27201004 xref: SNOMEDCT_US:63122002 xref: UMLS:C0917990 is_a: HP:0005918 ! Abnormal finger phalanx morphology is_a: HP:0009699 ! Osteolytic defects of the hand bones created_by: doelkens creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009772 name: Patchy sclerosis of finger phalanx alt_id: HP:0006071 def: "Uneven (irregular) increase in bone density of one or more of the phalanges of the hand." [HPO:probinson] synonym: "Patchy sclerosis of the phalanges of the hand" EXACT [] synonym: "Phalangeal sclerosis" EXACT [] synonym: "Uneven increase in bone density in finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1857508 is_a: HP:0004286 ! Patchy sclerosis of hand bones is_a: HP:0005686 ! Patchy osteosclerosis is_a: HP:0100899 ! Sclerosis of finger phalanx created_by: doelkens creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009773 name: Symphalangism affecting the phalanges of the hand alt_id: HP:0006258 def: "Fusion of two or more phalangeal bones of the hand." [HPO:curators] synonym: "Fused finger bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Synostosis involving phalanges of the hand" EXACT [] xref: UMLS:C4021390 is_a: HP:0005918 ! Abnormal finger phalanx morphology created_by: doelkens creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009774 name: Triangular shaped phalanges of the hand alt_id: HP:0006085 alt_id: HP:0009874 synonym: "Delta phalanx/delta-like phalanx" EXACT [] synonym: "Triangular shaped hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C2673397 is_a: HP:0005918 ! Abnormal finger phalanx morphology created_by: doelkens creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009775 name: Amniotic constriction ring alt_id: HP:0001078 def: "Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands." [HPO:probinson] comment: Pseudoainhum is a rare condition of unknown etiology that produces digital constricting rings, most commonly on the small fingers. synonym: "Amniotic bands" EXACT [] synonym: "Amniotic constriction band" RELATED [] synonym: "Pseudoainhum" EXACT [] xref: MSH:C535821 xref: MSH:D000652 xref: SNOMEDCT_US:19988008 xref: SNOMEDCT_US:238879003 xref: UMLS:C0334166 xref: UMLS:C1527388 is_a: HP:0011409 ! Abnormality of placental membranes created_by: doelkens creation_date: 2009-02-02T05:36:41Z [Term] id: HP:0009776 name: Adactyly def: "The absence of all phalanges of all the digits of a limb and the associated soft tissues." [pmid:19125433] comment: This descriptor does not require absence of the metacarpal or metatarsal bones. A qualifying phrase is added to specify which limb has the attribute of adactyly. subset: hposlim_core synonym: "Absent fingers or toes" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Aphalangy" EXACT [] xref: Fyler:4173 xref: SNOMEDCT_US:275348004 xref: UMLS:C0238591 xref: UMLS:C4280394 is_a: HP:0009380 ! Aplasia of the fingers is_a: HP:0010760 ! Absent toe created_by: doelkens creation_date: 2009-02-02T05:44:39Z [Term] id: HP:0009777 name: Absent thumb alt_id: HP:0001185 alt_id: HP:0002802 alt_id: HP:0009627 def: "Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues." [HPO:probinson, pmid:19125433] subset: hposlim_core synonym: "Absent thumb" EXACT layperson [] synonym: "Absent thumbs" EXACT layperson [] synonym: "Aplasia of the thumb" EXACT [] synonym: "Thumb aplasia" EXACT [] xref: UMLS:C3278811 is_a: HP:0009380 ! Aplasia of the fingers is_a: HP:0009601 ! Aplasia/Hypoplasia of the thumb created_by: doelkens creation_date: 2009-02-02T05:46:42Z [Term] id: HP:0009778 name: Short thumb alt_id: HP:0001183 alt_id: HP:0001186 alt_id: HP:0001589 alt_id: HP:0005699 alt_id: HP:0006151 alt_id: HP:0009628 def: "Hypoplasia (congenital reduction in size) of the thumb." [HPO:probinson] subset: hposlim_core synonym: "Hypoplastic thumb" EXACT [] synonym: "Hypoplastic thumbs" EXACT [] synonym: "Hypoplastic/small thumb" EXACT [] synonym: "Short thumb" EXACT layperson [] synonym: "Short thumbs" EXACT layperson [] synonym: "Small thumbs" EXACT layperson [] synonym: "Thumb brachydactyly" EXACT [] synonym: "Thumb hypoplasia" EXACT [] xref: MSH:C536903 xref: SNOMEDCT_US:253936008 xref: UMLS:C0431890 is_a: HP:0009381 ! Short finger is_a: HP:0009601 ! Aplasia/Hypoplasia of the thumb created_by: doelkens creation_date: 2009-02-02T05:46:42Z [Term] id: HP:0009779 name: 3-4 toe syndactyly alt_id: HP:0004708 def: "Syndactyly with fusion of toes three and four." [HPO:sdoelken] synonym: "syndactyly of 3rd - 4th toes" EXACT [] synonym: "Webbed 3rd-4th toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1834062 is_a: HP:0001770 ! Toe syndactyly created_by: peter creation_date: 2009-02-03T04:43:16Z [Term] id: HP:0009780 name: Iliac horns def: "Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic." [HPO:curators] xref: SNOMEDCT_US:84308008 xref: UMLS:C0263925 is_a: HP:0003796 ! Irregular iliac crest created_by: peter creation_date: 2009-02-03T04:48:00Z [Term] id: HP:0009781 name: Lester's sign def: "A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape." [HPO:probinson] xref: UMLS:C4024210 is_a: HP:0001100 ! Heterochromia iridis created_by: peter creation_date: 2009-02-03T04:50:17Z [Term] id: HP:0009782 name: Aplasia/Hypoplasia of the biceps def: "Absence or underdevelopment of the biceps muscle." [HPO:curators] synonym: "Absent/small biceps" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped biceps" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024209 is_a: HP:0001468 ! Aplasia/Hypoplasia involving the musculature of the upper arm created_by: peter creation_date: 2009-02-03T04:52:01Z [Term] id: HP:0009783 name: Biceps aplasia def: "Absence of the biceps muscle." [HPO:curators] synonym: "Absent biceps" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3805764 is_a: HP:0009782 ! Aplasia/Hypoplasia of the biceps is_a: HP:0100854 ! Aplasia of the musculature created_by: peter creation_date: 2009-02-03T04:57:47Z [Term] id: HP:0009784 name: Aplasia/Hypoplasia of the triceps def: "Absence or underdevelopment of the triceps muscle." [HPO:curators] synonym: "Absent/small triceps" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped triceps" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024208 is_a: HP:0001468 ! Aplasia/Hypoplasia involving the musculature of the upper arm created_by: peter creation_date: 2009-02-03T04:58:31Z [Term] id: HP:0009785 name: Triceps aplasia def: "Absence of the triceps muscle." [HPO:curators] synonym: "Absent triceps" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3810484 is_a: HP:0009784 ! Aplasia/Hypoplasia of the triceps is_a: HP:0100854 ! Aplasia of the musculature created_by: peter creation_date: 2009-02-03T05:15:21Z [Term] id: HP:0009786 name: Aplasia/Hypoplasia of the musculature of the thigh def: "Absence or underdevelopment involving the musculature of the thigh." [HPO:curators] synonym: "Absent/small thigh muscles" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped thigh muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024207 is_a: HP:0001441 ! Abnormality of the musculature of the thigh is_a: HP:0009128 ! Aplasia/Hypoplasia involving the musculature of the extremities created_by: peter creation_date: 2009-02-03T05:16:42Z [Term] id: HP:0009787 name: Aplasia/Hypoplasia of the quadriceps def: "Absence or underdevelopment of the quadriceps muscle." [HPO:curators] synonym: "Absent/small quadriceps" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped quadriceps" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024206 is_a: HP:0009786 ! Aplasia/Hypoplasia of the musculature of the thigh created_by: peter creation_date: 2009-02-03T05:17:40Z [Term] id: HP:0009788 name: Quadriceps aplasia def: "Absence of the quadriceps muscle." [HPO:curators] synonym: "Absent quads" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3805765 is_a: HP:0009787 ! Aplasia/Hypoplasia of the quadriceps is_a: HP:0100854 ! Aplasia of the musculature created_by: peter creation_date: 2009-02-03T05:18:11Z [Term] id: HP:0009789 name: Perianal abscess def: "The presence of an abscess located around the anus." [HPO:curators] xref: SNOMEDCT_US:82127005 xref: UMLS:C0031019 is_a: HP:0004378 ! Abnormality of the anus is_a: HP:0031292 ! Cutaneous abscess created_by: peter creation_date: 2009-02-03T05:19:42Z [Term] id: HP:0009790 name: Hemisacrum def: "A hemisacral defect involving the sacral vertebrae S2 to S5. In hemisacrum, the first sacral vertebra is intact and there is agenesis involving only S2-S5." [HPO:probinson] xref: UMLS:C2677632 is_a: HP:0008490 ! Sacral segmentation defect created_by: peter creation_date: 2009-02-03T05:21:37Z [Term] id: HP:0009791 name: Bifid sacrum def: "Presence of a bifid sacral bone." [HPO:probinson] xref: UMLS:C4024204 is_a: HP:0008490 ! Sacral segmentation defect created_by: peter creation_date: 2009-02-03T05:22:25Z [Term] id: HP:0009792 name: Teratoma def: "The presence of a teratoma." [HPO:probinson] comment: Teratomas are germ-cell tumors commonly composed of multiple cell types derived from one or more of the three germ layers. They derive from embryonic pluripotent cells and may have various degrees of maturation, according to which they are classified as mature, immature, and malignant. Teratomas are found with decreasing frequency in the ovaries and testis, mediastinum, retroperitoneal space, sacrococcygeal zone, pineal and other intracranial locations. xref: MSH:D013724 xref: NCIT:C3403 xref: SNOMEDCT_US:55818009 xref: UMLS:C0039538 is_a: HP:0002898 ! Embryonal neoplasm is_a: HP:0100728 ! Germ cell neoplasia created_by: peter creation_date: 2009-02-03T05:23:03Z [Term] id: HP:0009793 name: Presacral teratoma def: "A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV)." [HPO:probinson] comment: Sacrococcygeal teratomas are thought to originate from multipotential cells in Henson's node, which migrates caudally to rest in the coccyx. synonym: "Altman type IV sacrococcygeal teratoma" EXACT [] synonym: "Retrorectal teratoma" EXACT [] xref: UMLS:C1867782 is_a: HP:0030736 ! Sacrococcygeal teratoma created_by: peter creation_date: 2009-02-03T05:23:57Z [Term] id: HP:0009794 name: Branchial anomaly def: "Congenital developmental defect arising from the primitive branchial apparatus." [HPO:sdoelken] comment: During embryonic development the major head and neck structures are formed from the five pharyngeal arches (bands of tissue). Incomplete, failed or persistent embryonic development of these arches results in several anomalies or defects in the neck. subset: hposlim_core synonym: "Abnormality of branchial apparatus" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of branchial arch" EXACT [ORCID:0000-0001-5889-4463] synonym: "Branchial abnormality" EXACT [] synonym: "Branchial anomalies" EXACT [] xref: UMLS:C1862066 is_a: HP:0000464 ! Abnormality of the neck created_by: peter creation_date: 2009-02-11T05:16:20Z [Term] id: HP:0009795 name: Branchial fistula def: "A congenital fistula in the neck resulting from incomplete closure of a branchial cleft." [HPO:sdoelken] subset: hposlim_core synonym: "Branchial cleft fistula" EXACT [] xref: SNOMEDCT_US:204268008 xref: UMLS:C0546968 is_a: HP:0009794 ! Branchial anomaly created_by: peter creation_date: 2009-02-11T05:17:12Z [Term] id: HP:0009796 name: Branchial cyst def: "A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region." [HPO:sdoelken] comment: Branchial cyst have to be distinguished from the preauricular cysts and sinuses, which are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral, and are localized anterior to the tragus of the ear. synonym: "Branchial cleft cyst" RELATED [] synonym: "Branchial cysts" EXACT [] xref: MSH:D001935 xref: SNOMEDCT_US:42362005 xref: SNOMEDCT_US:59857007 xref: UMLS:C0006131 is_a: HP:0009794 ! Branchial anomaly created_by: peter creation_date: 2009-02-11T05:18:08Z [Term] id: HP:0009797 name: Cholesteatoma def: "Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear." [HPO:curators] xref: MSH:D002781 xref: SNOMEDCT_US:363668000 xref: SNOMEDCT_US:575006 xref: UMLS:C0008373 is_a: HP:0008609 ! Morphological abnormality of the middle ear is_a: HP:0100799 ! Neoplasm of the middle ear created_by: peter creation_date: 2009-02-11T05:20:04Z [Term] id: HP:0009798 name: Euthyroid goiter def: "A goiter that is not associated with functional thyroid abnormalities." [HPO:probinson] xref: MSH:C562732 xref: SNOMEDCT_US:32251000119106 xref: UMLS:C0302859 is_a: HP:0000853 ! Goiter created_by: peter creation_date: 2009-02-11T05:21:23Z [Term] id: HP:0009799 name: Supernumerary spleens def: "The presence of two or more accessory spleens." [HPO:curators] synonym: "Extra spleen" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:10362008 xref: UMLS:C0266631 is_a: HP:0025408 ! Abnormal spleen morphology created_by: peter creation_date: 2009-02-11T05:44:01Z [Term] id: HP:0009800 name: Maternal diabetes def: "Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes." [HPO:curators] synonym: "gestational diabetes" EXACT layperson [] synonym: "Maternal diabetes" EXACT layperson [] synonym: "maternal hyperglycemia" NARROW [] xref: MSH:D016640 xref: SNOMEDCT_US:11687002 xref: UMLS:C0085207 xref: UMLS:C4020778 is_a: HP:0000819 ! Diabetes mellitus is_a: HP:0002686 ! Prenatal maternal abnormality created_by: doelkens creation_date: 2009-02-12T05:44:58Z [Term] id: HP:0009802 name: Aplasia of the phalanges of the hand def: "Absence of one or more of the phalanges of the hand." [HPO:curators] synonym: "Absent finger bone of the hand" RELATED layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024203 xref: UMLS:C4280393 is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand is_a: HP:0009823 ! Aplasia involving bones of the upper limbs created_by: doelkens creation_date: 2009-02-12T05:56:07Z [Term] id: HP:0009803 name: Short phalanx of finger alt_id: HP:0001168 alt_id: HP:0005771 alt_id: HP:0006087 alt_id: HP:0006126 def: "Short (hypoplastic) phalanx of finger, affecting one or more phalanges." [HPO:sdoelken] synonym: "Hypoplastic phalanges" EXACT [] synonym: "Hypoplastic phalanges of hands" EXACT [] synonym: "Hypoplastic/small phalanges of the hand" EXACT [] synonym: "Phalangeal hypoplasia" EXACT [] synonym: "Rudimentary phalanges" EXACT [] synonym: "Short finger bones" EXACT layperson [] synonym: "Short phalanges" EXACT [] synonym: "Shortened phalanges" EXACT [] xref: UMLS:C0877165 is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand created_by: doelkens creation_date: 2009-02-12T05:57:11Z [Term] id: HP:0009804 name: Reduced number of teeth def: "The presence of a reduced number of teeth as in Hypodontia or as in Anodontia." [HPO:sdoelken] comment: Hypodontia describes a situation when there are fewer than the normal number of teeth, whereby 6 teeth or fewer teeth are missing (oligodontia refers to the condition of missing more than 6 teeth and the congenital absence of all teeth is called anodontia). synonym: "Decreased number of teeth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased tooth count" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Failure of development of some teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Fewer teeth than normal" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Missing some teeth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Reduced number of teeth" EXACT layperson [] synonym: "Tooth agenesis" BROAD [] xref: UMLS:C4024202 xref: UMLS:C4083050 is_a: HP:0006483 ! Abnormal number of teeth creation_date: 2009-02-14T06:20:53Z [Term] id: HP:0009805 name: Low-output congestive heart failure def: "A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes." [HPO:curators] xref: UMLS:C4024201 is_a: HP:0001635 ! Congestive heart failure created_by: peter creation_date: 2009-02-16T11:10:18Z [Term] id: HP:0009806 name: Nephrogenic diabetes insipidus def: "A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP)." [HPO:curators] xref: MSH:D018500 xref: SNOMEDCT_US:111395007 xref: UMLS:C0162283 is_a: HP:0000873 ! Diabetes insipidus created_by: peter creation_date: 2009-02-16T11:23:28Z [Term] id: HP:0009808 name: Anomaly of the upper limb diaphyses alt_id: HP:0003857 def: "A structural abnormality of a diaphysis of the arm." [UToronto:htrang] synonym: "Abnormality involving the diaphyses of the upper limbs" EXACT [] synonym: "Abnormality of shaft of long bone of the upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Diaphyseal abnormality of the upper limbs" EXACT [] xref: UMLS:C4021389 is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0006504 ! Anomaly of the limb diaphyses created_by: doelkens creation_date: 2009-02-23T04:55:36Z [Term] id: HP:0009809 name: Abnormality of upper limb metaphysis alt_id: HP:0003847 def: "An anomaly of one or more metaphyses of the arms." [HPO:probinson] synonym: "Abnormality of the wide portion of upper limb bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Metaphyseal abnormality of the upper limbs" EXACT [] xref: UMLS:C4021388 is_a: HP:0000944 ! Abnormality of the metaphysis is_a: HP:0002817 ! Abnormality of the upper limb created_by: doelkens creation_date: 2009-02-23T04:55:36Z [Term] id: HP:0009810 name: Abnormality of upper limb joint synonym: "Abnormality of the joints of the upper limbs" EXACT layperson [] synonym: "Abnormality of upper limb joint" EXACT layperson [] xref: UMLS:C4021387 is_a: HP:0001367 ! Abnormal joint morphology is_a: HP:0002817 ! Abnormality of the upper limb created_by: doelkens creation_date: 2009-02-23T04:57:56Z [Term] id: HP:0009811 name: Abnormality of the elbow alt_id: HP:0002966 def: "An anomaly of the joint that connects the upper and the lower arm." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the elbow" EXACT layperson [] synonym: "Abnormality of the elbows" EXACT layperson [] xref: UMLS:C4021386 is_a: HP:0009810 ! Abnormality of upper limb joint created_by: doelkens creation_date: 2009-02-23T04:59:43Z [Term] id: HP:0009812 name: Amelia involving the upper limbs def: "Amelia of one or both upper limbs." [HPO:curators] xref: UMLS:C4024200 is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs is_a: HP:0009827 ! Amelia created_by: doelkens creation_date: 2009-02-23T05:06:12Z [Term] id: HP:0009813 name: Upper limb phocomelia def: "Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia)." [HPO:probinson] xref: SNOMEDCT_US:253926000 xref: UMLS:C0265573 is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs is_a: HP:0009829 ! Phocomelia created_by: doelkens creation_date: 2009-02-23T05:06:12Z [Term] id: HP:0009814 name: Upper limb peromelia def: "Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation." [HPO:sdoelken] xref: UMLS:C4024199 is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs is_a: HP:0009828 ! Peromelia created_by: doelkens creation_date: 2009-02-23T05:06:12Z [Term] id: HP:0009815 name: Aplasia/hypoplasia of the extremities alt_id: HP:0002969 alt_id: HP:0006497 def: "Absence (due to failure to form) or underdevelopment of the extremities." [HPO:probinson] synonym: "Absent/small extremities" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped extremities" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short or absent limbs" EXACT [] synonym: "Shortened limbs" EXACT [] xref: UMLS:C0239399 is_a: HP:0009115 ! Aplasia/hypoplasia involving the skeleton is_a: HP:0040064 ! Abnormality of limbs created_by: doelkens creation_date: 2009-02-23T05:06:40Z [Term] id: HP:0009816 name: Lower limb undergrowth alt_id: HP:0003087 alt_id: HP:0005884 alt_id: HP:0006399 def: "Leg shortening because of underdevelopment of one or more bones of the lower extremity." [HPO:probinson] synonym: "Hypoplasia involving bones of the lower limbs" EXACT [] synonym: "Hypoplasia of the lower limbs" EXACT [] synonym: "Lower limb undergrowth" EXACT layperson [] synonym: "Underdeveloped lower limb bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:253959002 xref: UMLS:C0345371 is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs is_a: HP:0009826 ! Limb undergrowth created_by: doelkens creation_date: 2009-02-23T05:09:32Z [Term] id: HP:0009817 name: Aplasia involving bones of the lower limbs synonym: "Absent bones of the lower limbs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024198 is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs is_a: HP:0009825 ! Aplasia involving bones of the extremities created_by: doelkens creation_date: 2009-02-23T05:10:03Z [Term] id: HP:0009818 name: Amelia involving the lower limbs def: "Amelia of one or both legs." [HPO:curators] xref: UMLS:C4024197 is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs is_a: HP:0009827 ! Amelia created_by: doelkens creation_date: 2009-02-23T05:11:07Z [Term] id: HP:0009819 name: Lower limb phocomelia def: "Phocomelia affecting only the lower limbs." [HPO:sdoelken] xref: SNOMEDCT_US:253963009 xref: UMLS:C0265625 is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs is_a: HP:0009829 ! Phocomelia created_by: doelkens creation_date: 2009-02-23T05:11:07Z [Term] id: HP:0009820 name: Lower limb peromelia def: "Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation." [HPO:sdoelken] xref: UMLS:C4024196 is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet is_a: HP:0009828 ! Peromelia created_by: doelkens creation_date: 2009-02-23T05:11:07Z [Term] id: HP:0009821 name: Forearm undergrowth alt_id: HP:0003024 alt_id: HP:0003968 alt_id: HP:0006405 def: "Forearm shortening because of underdevelopment of one or more bones of the forearm." [HPO:probinson] synonym: "Forearm undergrowth" EXACT layperson [] synonym: "Hypoplasia involving forearm bones" EXACT [] synonym: "Short forearm bones" EXACT layperson [] synonym: "Short forearms" EXACT layperson [] synonym: "Shortened forearm" EXACT layperson [] xref: UMLS:C1855299 is_a: HP:0003026 ! Short long bone is_a: HP:0006503 ! Aplasia/hypoplasia involving forearm bones is_a: HP:0009824 ! Upper limb undergrowth is_a: HP:0040065 ! Abnormal morphology of bones of the upper limbs created_by: doelkens creation_date: 2009-02-23T05:11:42Z [Term] id: HP:0009822 name: Aplasia involving forearm bones synonym: "Absent forearm bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024195 is_a: HP:0006503 ! Aplasia/hypoplasia involving forearm bones created_by: doelkens creation_date: 2009-02-23T05:12:10Z [Term] id: HP:0009823 name: Aplasia involving bones of the upper limbs synonym: "Absent bones of the upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024194 is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs is_a: HP:0009825 ! Aplasia involving bones of the extremities created_by: doelkens creation_date: 2009-02-23T05:13:20Z [Term] id: HP:0009824 name: Upper limb undergrowth alt_id: HP:0003056 alt_id: HP:0006364 def: "Arm shortening because of underdevelopment of one or more bones of the upper extremity." [HPO:probinson] synonym: "Hypoplasia involving bones of the upper limbs" EXACT [] synonym: "Short arms" EXACT layperson [] synonym: "Shortening of the arms" EXACT layperson [] synonym: "Upper limb undergrowth" EXACT layperson [] xref: UMLS:C1837406 is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs is_a: HP:0009826 ! Limb undergrowth created_by: doelkens creation_date: 2009-02-23T05:13:20Z [Term] id: HP:0009825 name: Aplasia involving bones of the extremities synonym: "Absent bones of the extremities" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024193 is_a: HP:0045060 ! Aplasia/hypoplasia involving bones of the extremities created_by: doelkens creation_date: 2009-02-23T05:16:44Z [Term] id: HP:0009826 name: Limb undergrowth alt_id: HP:0003058 alt_id: HP:0005049 alt_id: HP:0005057 def: "Limb shortening because of underdevelopment of one or more bones of the extremities." [HPO:probinson] synonym: "Hypoplasia involving bones of the extremities" EXACT [] synonym: "limb shortening" EXACT layperson [] synonym: "Limb undergrowth" EXACT layperson [] synonym: "Short limb" EXACT layperson [] synonym: "Short limbs" EXACT layperson [HPO:skoehler] xref: UMLS:C0239399 is_a: HP:0009815 ! Aplasia/hypoplasia of the extremities created_by: doelkens creation_date: 2009-02-23T05:16:44Z [Term] id: HP:0009827 name: Amelia def: "Congenital absence (aplasia) of one or more limbs." [HPO:sdoelken] subset: hposlim_core xref: MEDDRA:10001926 "Amelia" xref: MSH:D004480 xref: SNOMEDCT_US:62588002 xref: UMLS:C0002447 is_a: HP:0009815 ! Aplasia/hypoplasia of the extremities created_by: doelkens creation_date: 2009-02-23T05:17:25Z [Term] id: HP:0009828 name: Peromelia def: "The distal parts of the limbs are missing leading to a stump formation." [HPO:probinson] xref: UMLS:C4024192 is_a: HP:0009815 ! Aplasia/hypoplasia of the extremities created_by: doelkens creation_date: 2009-02-23T05:17:25Z [Term] id: HP:0009829 name: Phocomelia alt_id: HP:0002994 def: "Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia)." [HPO:probinson] subset: hposlim_core xref: MEDDRA:10034923 "Phocomelia" xref: MSH:D004480 xref: SNOMEDCT_US:22841008 xref: UMLS:C0031575 is_a: HP:0009815 ! Aplasia/hypoplasia of the extremities is_a: HP:0011314 ! Abnormality of long bone morphology created_by: doelkens creation_date: 2009-02-23T05:17:25Z [Term] id: HP:0009830 name: Peripheral neuropathy alt_id: HP:0003157 alt_id: HP:0003407 alt_id: HP:0007088 alt_id: HP:0007235 alt_id: HP:0007355 def: "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [HPO:sdoelken] synonym: "Neuropathy" RELATED [] synonym: "Peripheral nerve damage" EXACT [ORCID:0000-0001-5208-3432] synonym: "Peripheral neuritis" EXACT [ORCID:0000-0001-5208-3432] xref: MSH:D010523 xref: SNOMEDCT_US:302226006 xref: SNOMEDCT_US:386033004 xref: SNOMEDCT_US:42658009 xref: UMLS:C0031117 xref: UMLS:C0442874 is_a: HP:0000759 ! Abnormal peripheral nervous system morphology created_by: peter creation_date: 2009-03-01T07:49:18Z [Term] id: HP:0009831 name: Mononeuropathy def: "A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution." [HPO:probinson] synonym: "Single damaged nerve" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D020422 xref: SNOMEDCT_US:128189008 xref: UMLS:C0494491 is_a: HP:0009830 ! Peripheral neuropathy created_by: peter creation_date: 2009-03-01T08:27:29Z [Term] id: HP:0009832 name: Abnormal distal phalanx morphology of finger alt_id: HP:0005919 def: "Any anomaly of distal phalanx of finger." [HPO:probinson] synonym: "Abnormal terminal phalanges of the hand" EXACT [] synonym: "Abnormality of the distal phalanges of the hand" EXACT [] synonym: "Abnormality of the distal phalanx of finger" EXACT [] synonym: "Abnormality of the outermost finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021385 is_a: HP:0005918 ! Abnormal finger phalanx morphology created_by: doelkens creation_date: 2009-03-11T12:01:39Z [Term] id: HP:0009833 name: Abnormal middle phalanx morphology of the hand def: "An anomaly of middle phalanx of finger." [HPO:probinson] synonym: "Abnormality of the middle finger bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the middle phalanges of the hand" EXACT [] xref: UMLS:C4024191 is_a: HP:0005918 ! Abnormal finger phalanx morphology created_by: doelkens creation_date: 2009-03-11T12:01:39Z [Term] id: HP:0009834 name: Abnormal proximal phalanx morphology of the hand synonym: "Abnormality of the innermost finger bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the proximal phalanges of the hand" EXACT [] xref: UMLS:C4024190 is_a: HP:0005918 ! Abnormal finger phalanx morphology created_by: doelkens creation_date: 2009-03-11T12:01:39Z [Term] id: HP:0009835 name: Aplasia/Hypoplasia of the distal phalanges of the hand alt_id: HP:0005635 alt_id: HP:0006037 alt_id: HP:0006066 alt_id: HP:0006235 def: "Absence or underdevelopment of the distal phalanges." [HPO:curators] synonym: "Absent/hypoplastic distal phalanges" EXACT [] synonym: "Absent/small outermost finger bone of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped outermost finger bone of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia/Hypoplasia of the distal phalanges" EXACT [] synonym: "Aplastic/hypoplastic distal phalanges" EXACT [] synonym: "Hypoplastic to absent terminal phalanges" EXACT [] synonym: "Hypoplastic/aplastic distal phalanges" EXACT [] synonym: "Hypoplastic/aplastic distal phalanx" EXACT [] synonym: "Small or absent distal phalanges" RELATED [HPO:skoehler] xref: UMLS:C1861336 is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger created_by: doelkens creation_date: 2009-03-11T12:10:11Z [Term] id: HP:0009836 name: Broad distal phalanx of finger alt_id: HP:0003120 alt_id: HP:0006113 alt_id: HP:0006197 alt_id: HP:0006241 alt_id: HP:0009859 def: "Abnormally wide (broad) distal phalanx of finger." [HPO:sdoelken] synonym: "Broad distal phalanges" EXACT [] synonym: "Broad distal phalanges of the hand" EXACT [] synonym: "Broad distal phalanx" EXACT [] synonym: "Broad outermost finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Broad terminal phalanges" EXACT [] synonym: "Broad, square ends of distal phalanges" EXACT [] synonym: "Spatulate terminal phalanges" EXACT [] xref: UMLS:C1850630 is_a: HP:0009768 ! Broad phalanges of the hand is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger created_by: doelkens creation_date: 2009-03-11T12:10:11Z [Term] id: HP:0009837 name: Bullet-shaped distal phalanges of the hand alt_id: HP:0009860 def: "Short and wide distal phalanges that taper distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [] synonym: "Bullet-shaped outermost finger bone of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024189 is_a: HP:0009769 ! Bullet-shaped phalanges of the hand is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger created_by: doelkens creation_date: 2009-03-11T12:10:11Z [Term] id: HP:0009838 name: Curved distal phalanges of the hand alt_id: HP:0009862 synonym: "Curved outermost finger bone of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024188 is_a: HP:0009770 ! Curved phalanges of the hand is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger created_by: doelkens creation_date: 2009-03-11T12:10:11Z [Term] id: HP:0009839 name: Osteolytic defects of the distal phalanges of the hand alt_id: HP:0001219 alt_id: HP:0009865 synonym: "Acro-osteolysis of distal phalanges" EXACT [] synonym: "Acroosteolysis of distal phalanges" EXACT [] synonym: "Osteolytic defects of the outermost finger bone of the hand" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C1849547 is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger created_by: doelkens creation_date: 2009-03-11T12:10:11Z [Term] id: HP:0009840 name: Patchy sclerosis of distal phalanx of finger alt_id: HP:0009868 def: "Uneven (irregular) increase in bone density of the distal phalanges of the hand." [HPO:probinson] synonym: "Patchy sclerosis of the distal phalanges of the hand" EXACT [] synonym: "Uneven increase in bone density in outermost finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021384 is_a: HP:0009772 ! Patchy sclerosis of finger phalanx is_a: HP:0100915 ! Sclerosis of distal finger phalanx created_by: doelkens creation_date: 2009-03-11T12:10:11Z [Term] id: HP:0009843 name: Aplasia/Hypoplasia of the middle phalanges of the hand alt_id: HP:0005810 alt_id: HP:0006063 alt_id: HP:0006148 synonym: "Absent/hypoplastic middle phalanges" EXACT [] synonym: "Absent/small middle finger bone of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped middle finger bone of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia/hypoplasia of middle phalanges" EXACT [] synonym: "Aplastic/hypoplastic middle phalanges" EXACT [] synonym: "Hypoplastic/aplastic middle phalanx" EXACT [] synonym: "Short to absent middle phalanges" EXACT [] synonym: "Short/absent middle phalanges" EXACT [] xref: UMLS:C1862152 is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand created_by: doelkens creation_date: 2009-03-11T12:15:55Z [Term] id: HP:0009844 name: Broad middle phalanx of finger def: "Increased width of the middle phalanx of finger." [HPO:probinson] synonym: "Broad middle finger bones" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Broad middle phalanges of finger" EXACT [] synonym: "Broad middle phalanges of the hand" EXACT [] xref: UMLS:C4021383 is_a: HP:0009768 ! Broad phalanges of the hand is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand created_by: doelkens creation_date: 2009-03-11T12:15:55Z [Term] id: HP:0009845 name: Bullet-shaped middle phalanges of the hand alt_id: HP:0006038 def: "Any of the middle phalanges with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped middle finger bones" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4024187 is_a: HP:0009769 ! Bullet-shaped phalanges of the hand is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand created_by: doelkens creation_date: 2009-03-11T12:15:55Z [Term] id: HP:0009846 name: Curved middle phalanges of the hand alt_id: HP:0009863 synonym: "Curved middle finger bonds of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024186 is_a: HP:0009770 ! Curved phalanges of the hand is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand created_by: doelkens creation_date: 2009-03-11T12:15:55Z [Term] id: HP:0009847 name: Osteolytic defects of the middle phalanges of the hand alt_id: HP:0009866 xref: UMLS:C4024185 is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand created_by: doelkens creation_date: 2009-03-11T12:15:55Z [Term] id: HP:0009848 name: Patchy sclerosis of middle phalanx of finger alt_id: HP:0009870 def: "Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand." [HPO:probinson] synonym: "Patchy sclerosis of the middle phalanges of the hand" EXACT [] synonym: "Uneven increase in bone density in the middle finger bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021382 is_a: HP:0009772 ! Patchy sclerosis of finger phalanx is_a: HP:0100916 ! Sclerosis of middle finger phalanx created_by: doelkens creation_date: 2009-03-11T12:15:55Z [Term] id: HP:0009849 name: Symphalangism of middle phalanx of finger alt_id: HP:0009872 def: "Fusion of a middle phalanx of a finger with another bone." [HPO:probinson] synonym: "Fused middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024184 is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand created_by: doelkens creation_date: 2009-03-11T12:15:55Z [Term] id: HP:0009850 name: Triangular shaped middle phalanges of the hand alt_id: HP:0009876 synonym: "Triangular shaped middle finger bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024183 is_a: HP:0009774 ! Triangular shaped phalanges of the hand is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand created_by: doelkens creation_date: 2009-03-11T12:15:55Z [Term] id: HP:0009851 name: Aplasia/Hypoplasia of the proximal phalanges of the hand synonym: "Absent/small innermost finger bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped innermost finger bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024182 is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand created_by: doelkens creation_date: 2009-03-11T12:16:33Z [Term] id: HP:0009852 name: Broad proximal phalanges of the hand alt_id: HP:0006168 def: "Increased width of the proximal phalanges of the finger." [HPO:probinson] synonym: "Broad innermost finger bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide innermost finger bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024181 is_a: HP:0009768 ! Broad phalanges of the hand is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand created_by: doelkens creation_date: 2009-03-11T12:16:33Z [Term] id: HP:0009853 name: Bullet-shaped proximal phalanges of the hand alt_id: HP:0009861 def: "Short and wide proximal phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:curators] synonym: "Bullet-shaped innermost finger bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024180 is_a: HP:0009769 ! Bullet-shaped phalanges of the hand is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand created_by: doelkens creation_date: 2009-03-11T12:16:33Z [Term] id: HP:0009854 name: Curved proximal phalanges of the hand alt_id: HP:0009864 synonym: "Curved innermost finger bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024179 is_a: HP:0009770 ! Curved phalanges of the hand is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand created_by: doelkens creation_date: 2009-03-11T12:16:33Z [Term] id: HP:0009855 name: Osteolytic defects of the proximal phalanges of the hand alt_id: HP:0006050 alt_id: HP:0009867 synonym: "Proximal phalanges osteolysis" EXACT [] xref: UMLS:C1850148 is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand created_by: doelkens creation_date: 2009-03-11T12:16:33Z [Term] id: HP:0009856 name: Patchy sclerosis of proximal phalanx of finger alt_id: HP:0009869 def: "Uneven increase in bone density of the proximal phalanges of the hand." [HPO:probinson] synonym: "Patchy sclerosis of the proximal phalanges of the hand" EXACT [] synonym: "Uneven increase in bone density in innermost finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021381 is_a: HP:0009772 ! Patchy sclerosis of finger phalanx is_a: HP:0100917 ! Sclerosis of proximal finger phalanx created_by: doelkens creation_date: 2009-03-11T12:16:33Z [Term] id: HP:0009857 name: Symphalangism affecting the proximal phalanges of the hand alt_id: HP:0009873 synonym: "Fused innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024178 is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand created_by: doelkens creation_date: 2009-03-11T12:16:33Z [Term] id: HP:0009858 name: Triangular shaped proximal phalanges of the hand alt_id: HP:0009877 synonym: "Triangular shaped innermost finger bone" RELATED layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024177 is_a: HP:0009774 ! Triangular shaped phalanges of the hand is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand created_by: doelkens creation_date: 2009-03-11T12:16:33Z [Term] id: HP:0009875 name: Triangular shaped distal phalanges of the hand alt_id: HP:0006061 alt_id: HP:0009842 synonym: "Triangular shaped outermost bone of the hand" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4024176 is_a: HP:0009774 ! Triangular shaped phalanges of the hand is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger created_by: doelkens creation_date: 2009-03-11T01:53:07Z [Term] id: HP:0009878 name: Cerebellar ataxia associated with quadrupedal gait def: "The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight)." [HPO:curators] xref: UMLS:C4024175 is_a: HP:0001251 ! Ataxia is_a: HP:0001288 ! Gait disturbance creation_date: 2009-03-28T05:22:45Z [Term] id: HP:0009879 name: Simplified gyral pattern def: "An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly." [COST:neuromig, HPO:probinson, PMID:22427329] synonym: "Cortical gyral simplification" EXACT [HPO:skoehler] xref: UMLS:C2749675 is_a: HP:0002536 ! Abnormal cortical gyration creation_date: 2009-03-28T06:23:59Z [Term] id: HP:0009880 name: Broad distal phalanges of all fingers alt_id: HP:0005816 def: "Abnormally wide (broad) distal phalanx of finger of all fingers." [HPO:probinson] synonym: "Broad outermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024174 is_a: HP:0009836 ! Broad distal phalanx of finger created_by: doelkens creation_date: 2009-04-24T04:18:59Z [Term] id: HP:0009881 name: Aplasia of the distal phalanges of the hand synonym: "Absent distal phalanges of the hand" EXACT [ORCID:0000-0001-5208-3432] synonym: "Absent outermost hand bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia of outermost hand bone" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4024173 is_a: HP:0009380 ! Aplasia of the fingers is_a: HP:0009802 ! Aplasia of the phalanges of the hand is_a: HP:0009835 ! Aplasia/Hypoplasia of the distal phalanges of the hand created_by: doelkens creation_date: 2009-04-24T04:29:30Z [Term] id: HP:0009882 name: Short distal phalanx of finger alt_id: HP:0001198 alt_id: HP:0001202 alt_id: HP:0001221 alt_id: HP:0001229 alt_id: HP:0005669 alt_id: HP:0006075 alt_id: HP:0006076 alt_id: HP:0006132 alt_id: HP:0006199 alt_id: HP:0006223 def: "Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger." [HPO:probinson, pmid:19125433] comment: This term differs from Partial absence of the finger because in that term, the phalanx must be missing, whereas in this term it may be small, but present. Distal phalangeal lengths can be assessed subjectively by comparing that digit segment to the rest of the digit, to other normal digits in that patient, or to typical patients of that age or build. Regarding the subjective definition, for individuals who do not have flexion creases, one may determine this by flexing the DIP joint and estimating the length of the terminal segment of the digit. Alternatively, one may be able to palpate the joint. subset: hposlim_core synonym: "Brachytelophalangy" EXACT [] synonym: "Distal phalangeal hypoplasia" EXACT [] synonym: "Hypoplasia of the distal phalanges" EXACT [] synonym: "Hypoplasia of the distal phalanges of the hand" EXACT [] synonym: "Hypoplasic terminal phalanges" EXACT [] synonym: "Hypoplastic distal phalanges" EXACT [] synonym: "Hypoplastic terminal phalanges" EXACT [] synonym: "Short distal phalanges" EXACT [] synonym: "Short outermost finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Terminal phalangeal hypoplasia of hand" EXACT [] xref: UMLS:C1839829 is_a: HP:0009381 ! Short finger is_a: HP:0009803 ! Short phalanx of finger is_a: HP:0009835 ! Aplasia/Hypoplasia of the distal phalanges of the hand created_by: doelkens creation_date: 2009-04-24T04:29:30Z [Term] id: HP:0009883 name: Duplication of the distal phalanx of hand alt_id: HP:0001228 alt_id: HP:0010007 def: "This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [HPO:sdoelken] synonym: "Bifid terminal phalanges" EXACT [] synonym: "Duplication of the outermost bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Notched outermost bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the distal phalanges of the hand" EXACT [] xref: UMLS:C1849343 is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger is_a: HP:0009997 ! Duplication of phalanx of hand created_by: doelkens creation_date: 2009-04-24T04:33:55Z [Term] id: HP:0009884 name: Tapered distal phalanges of finger alt_id: HP:0006052 def: "A reduction in diameter of the distal phalanx of finger towards the distal end." [HPO:probinson] synonym: "Tapered distal phalanges" EXACT [] synonym: "Tapered distal phalanges of the hand" EXACT [] synonym: "Tapered outermost finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1969237 is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger created_by: doelkens creation_date: 2009-04-24T04:40:31Z [Term] id: HP:0009885 name: obsolete Prenatal short stature is_obsolete: true consider: HP:0001511 [Term] id: HP:0009886 name: Trichorrhexis nodosa def: "Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair." [HPO:curators] xref: SNOMEDCT_US:22486004 xref: SNOMEDCT_US:238736006 xref: UMLS:C0263485 is_a: HP:0003328 ! Abnormal hair laboratory examination created_by: peter creation_date: 2009-04-30T05:51:57Z [Term] id: HP:0009887 name: Abnormality of hair pigmentation def: "An abnormality of hair pigmentation (color)." [HPO:curators] synonym: "Abnormality of hair color" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of hair pigmentation" EXACT layperson [] xref: UMLS:C4024172 is_a: HP:0001595 ! Abnormal hair morphology created_by: peter creation_date: 2009-04-30T06:00:53Z [Term] id: HP:0009888 name: Abnormality of secondary sexual hair def: "Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair." [HPO:curators] synonym: "Abnormality of secondary sexual hair" EXACT layperson [] xref: UMLS:C4024171 is_a: HP:0001595 ! Abnormal hair morphology created_by: peter creation_date: 2009-04-30T06:18:33Z [Term] id: HP:0009889 name: Localized hirsutism def: "Abnormally increased hair growth with a localized distribution." [HPO:curators] synonym: "Localized abnormal hair growth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4024170 is_a: HP:0001007 ! Hirsutism created_by: peter creation_date: 2009-04-30T06:29:20Z [Term] id: HP:0009890 name: High anterior hairline def: "Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella." [pmid:19125436] comment: This feature gives the appearance of a tall forehead, and may or may not include reduction of hair in the temporal areas. This can be distinguished from male pattern baldness as the hairline is the superior boundary of the muscular forehead, which can be actively wrinkled, in contrast to the scalp where no wrinkling can occur. In addition, texture of the skin of the scalp differs from the texture of the skin over the forehead. subset: hposlim_core synonym: "High frontal hairline" EXACT layperson [] xref: UMLS:C3276036 is_a: HP:0000599 ! Abnormality of the frontal hairline created_by: peter creation_date: 2009-04-30T06:34:27Z [Term] id: HP:0009891 name: Underdeveloped supraorbital ridges alt_id: HP:0004667 alt_id: HP:0004672 alt_id: HP:0005337 def: "Flatness of the supraorbital portion of the frontal bones." [HPO:curators, pmid:19125436] subset: hposlim_core synonym: "Depressed supraorbital margins" EXACT [ORCID:0000-0001-5889-4463] synonym: "Depressed supraorbital ridge" EXACT [] synonym: "Flat supraorbital margins" EXACT [ORCID:0000-0001-5889-4463] synonym: "Flat supraorbital ridge" EXACT [] synonym: "Flattened bony protrusion above eyes" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Hypoplasia of supraorbital margins" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypoplasia of the supraorbital ridges" EXACT [] synonym: "Hypoplastic supraorbital ridges" EXACT [] synonym: "Shallow orbital ridges" EXACT [] synonym: "Shallow supraorbital ridge" EXACT [] synonym: "Underdeveloped brows" RELATED layperson [] xref: UMLS:C1861869 xref: UMLS:C4020777 is_a: HP:0100538 ! Abnormality of the supraorbital ridges created_by: peter creation_date: 2009-04-30T06:50:09Z [Term] id: HP:0009892 name: Anotia def: "Complete absence of any auricular structures." [HPO:probinson, pmid:19125421] comment: Complete absence of the auricle (external ear). The skin of the cheek passes smoothly over the aural area without definite elevation or depression. subset: hposlim_core synonym: "Absent ear" RELATED layperson [] synonym: "Absent ears" RELATED layperson [HPO:skoehler] synonym: "Congenital absence of external ear" RELATED [HPO:skoehler] xref: MSH:D065817 xref: SNOMEDCT_US:57436000 xref: UMLS:C0702139 xref: UMLS:C1408788 is_a: HP:0008772 ! Aplasia/Hypoplasia of the external ear created_by: peter creation_date: 2009-04-30T06:53:41Z [Term] id: HP:0009893 name: Telangiectasia of the ear def: "The presence of telangiectasia of the ear." [HPO:probinson] subset: hposlim_core xref: UMLS:C4024169 is_a: HP:0000356 ! Abnormality of the outer ear is_a: HP:0100585 ! Telangiectasia of the skin created_by: peter creation_date: 2009-04-30T10:07:39Z [Term] id: HP:0009894 name: Thickened ears def: "Increased thickness of the external ear." [] subset: hposlim_core synonym: "Thickened ears" EXACT layperson [] xref: UMLS:C4024168 is_a: HP:0000377 ! Abnormality of the pinna created_by: peter creation_date: 2009-04-30T10:09:17Z [Term] id: HP:0009895 name: Abnormality of the crus of the helix def: "An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear." [HPO:probinson] synonym: "Abnormality of the crus of the ear" EXACT [] xref: UMLS:C4021380 is_a: HP:0011039 ! Abnormality of the helix is_a: HP:3000022 ! Abnormality of cartilage of external ear created_by: peter creation_date: 2009-04-30T10:32:41Z [Term] id: HP:0009896 name: Abnormality of the antitragus def: "An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch." [HPO:probinson] subset: hposlim_core xref: UMLS:C4024167 is_a: HP:0000377 ! Abnormality of the pinna created_by: peter creation_date: 2009-04-30T10:13:21Z [Term] id: HP:0009897 name: Horizontal crus of helix def: "An abnormal horizontal axis orientation of the crus of the helix. That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly." [HPO:probinson, pmid:19152421] comment: The term 'railroad track sign' has been used to describe prominent horizontal crus of the helix in combination with prominent and parallel inferior crus of the antihelix. It is preferable to simply describe each component separately. subset: hposlim_core synonym: "Helix, crus, horizontal" EXACT [] synonym: "Horizontal orientation of the crus of helix" EXACT [] synonym: "Horizontal orientation of the ear crus" EXACT [] xref: UMLS:C4021379 is_a: HP:0009895 ! Abnormality of the crus of the helix created_by: peter creation_date: 2009-04-30T10:34:52Z [Term] id: HP:0009898 name: Underdeveloped crus of the helix def: "Developmental hypoplasia of the crus of the helix. That is, flatter and/or shorter crus helix than average." [HPO:probinson, pmid:19152421] subset: hposlim_core synonym: "Hypoplasia of the crus of the ear" EXACT [] synonym: "Underdeveloped crus of the ear" EXACT [] xref: UMLS:C4021378 is_a: HP:0009895 ! Abnormality of the crus of the helix created_by: peter creation_date: 2009-04-30T10:36:43Z [Term] id: HP:0009899 name: Prominent crus of helix def: "The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix." [HPO:probinson, pmid:19152421] subset: hposlim_core synonym: "Abnormal prominence of the crus of the ear" EXACT [] synonym: "Helix, crus, prominent" EXACT [] synonym: "Hyperplastic helix crus" EXACT [] synonym: "Hypertrophic helix crus" EXACT [] xref: UMLS:C4021377 is_a: HP:0009895 ! Abnormality of the crus of the helix created_by: peter creation_date: 2009-04-30T10:38:06Z [Term] id: HP:0009900 name: Unilateral deafness def: "A unilateral absence of sensory perception of sound." [HPO:probinson] comment: Deafness affecting only one ear. synonym: "Deafness in one ear" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Deafness, unilateral" EXACT [] xref: MSH:D046088 xref: SNOMEDCT_US:162342008 xref: UMLS:C2607947 is_a: HP:0000365 ! Hearing impairment created_by: peter creation_date: 2009-04-30T10:42:23Z [Term] id: HP:0009901 name: Crumpled ear def: "Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds." [pmid:19152421] comment: This is distinct from Stahl ear and Shell ear, with which the term has sometimes been conflated. The appearance often changes markedly after birth. subset: hposlim_core synonym: "Crumpled ear" EXACT layperson [] xref: UMLS:C4024166 is_a: HP:0000377 ! Abnormality of the pinna created_by: peter creation_date: 2009-04-30T10:50:28Z [Term] id: HP:0009902 name: Cleft helix def: "A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length." [HPO:probinson, pmid:19152421] comment: This may take the form of a sharp cleft or a less well-demarcated area. This should be distinguished from a Question-mark ear. If the defect or notch occurs at the junction of the superior and descending portions of the helix, it should be coded as Darwin notch of the helix. subset: hposlim_core synonym: "Notched helix" EXACT [] synonym: "Notching of the ear helix" EXACT [] xref: UMLS:C4021376 is_a: HP:0011039 ! Abnormality of the helix created_by: peter creation_date: 2009-04-30T10:52:45Z [Term] id: HP:0009903 name: Conjunctival nodule def: "Presence of nodules in the conjunctiva of the eye." [HPO:probinson] subset: hposlim_core xref: SNOMEDCT_US:428477002 xref: UMLS:C1996949 is_a: HP:0000502 ! Abnormal conjunctiva morphology created_by: peter creation_date: 2009-05-02T05:04:15Z [Term] id: HP:0009904 name: Prominent ear helix def: "Abnormally prominent ear helix." [HPO:probinson] synonym: "Large helix" RELATED [] xref: UMLS:C4020776 xref: UMLS:C4024165 is_a: HP:0011039 ! Abnormality of the helix created_by: peter creation_date: 2009-05-01T02:49:39Z [Term] id: HP:0009905 name: Thin ear helix def: "Decreased thickness of the helix of the ear." [HPO:probinson] subset: hposlim_core xref: UMLS:C4024164 is_a: HP:0011039 ! Abnormality of the helix created_by: peter creation_date: 2009-05-01T02:50:35Z [Term] id: HP:0009906 name: Aplasia/Hypoplasia of the earlobes def: "Absence or underdevelopment of the ear lobes." [HPO:curators] synonym: "Absent/small ear lobes" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped ear lobes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1851792 is_a: HP:0000363 ! Abnormality of earlobe created_by: peter creation_date: 2009-05-01T02:55:12Z [Term] id: HP:0009907 name: Attached earlobe def: "Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward." [pmid:19152421] comment: The earlobe does not have a dependent portion. subset: hposlim_core synonym: "Adherent earlobe" EXACT [] synonym: "Attached earlobe" EXACT layperson [] xref: UMLS:C4021375 is_a: HP:0000363 ! Abnormality of earlobe created_by: peter creation_date: 2009-05-01T02:57:50Z [Term] id: HP:0009908 name: Anterior creases of earlobe alt_id: HP:0008604 def: "Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe." [pmid:19152421] comment: Shallow grooves or indentations are quite common, especially in large lobes. Ear lobe creases may arise postnatally. Posterior helical pits can be a related finding but should be assessed and coded separately. subset: hposlim_core synonym: "Earlobe crease" EXACT layperson [] synonym: "Transverse earlobe creases" EXACT [] xref: UMLS:C1851897 is_a: HP:0000363 ! Abnormality of earlobe created_by: peter creation_date: 2009-05-01T03:00:22Z [Term] id: HP:0009909 name: Uplifted earlobe alt_id: HP:0009764 def: "An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly." [HPO:probinson, pmid:19152421] comment: This finding is characteristic of Mowat-Wilson syndrome. subset: hposlim_core synonym: "Fleshy upturned lobules" EXACT [] synonym: "Lobe, uplifted" EXACT layperson [] synonym: "Uplifted earlobe" EXACT layperson [] synonym: "Uplifted earlobes" RELATED layperson [HPO:skoehler] synonym: "Upturned earlobe" EXACT layperson [] synonym: "Upturned earlobes" RELATED layperson [HPO:skoehler] xref: UMLS:C1856117 is_a: HP:0000363 ! Abnormality of earlobe created_by: peter creation_date: 2009-05-01T03:02:07Z [Term] id: HP:0009910 name: Aplasia of the middle ear ossicles def: "Absence of the middle ear ossicles, malleus, incus, and stapes." [HPO:probinson] synonym: "Absent middle ear bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent middle ear ossicles" EXACT [] xref: UMLS:C4021374 is_a: HP:0004452 ! Abnormality of the middle ear ossicles created_by: peter creation_date: 2009-05-01T03:26:53Z [Term] id: HP:0009911 name: Abnormal temporal bone morphology def: "Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the temporal bone" EXACT [] xref: UMLS:C4024163 is_a: HP:0000929 ! Abnormal skull morphology created_by: peter creation_date: 2009-05-01T03:33:17Z [Term] id: HP:0009912 name: Abnormality of the tragus def: "An abnormality of the tragus." [HPO:probinson] comment: The tragus is the small pointed eminence of the external ear, situated in front of the concha, and projecting backward over the auditory canal. xref: UMLS:C4024162 is_a: HP:0000377 ! Abnormality of the pinna created_by: peter creation_date: 2009-05-01T03:39:56Z [Term] id: HP:0009913 name: Aplasia/Hypoplasia of the tragus def: "Aplasia or developmental hypoplasia of the tragus." [HPO:probinson] synonym: "Absent/small tragus" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped tragus" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024161 is_a: HP:0009912 ! Abnormality of the tragus created_by: peter creation_date: 2009-05-01T03:43:12Z [Term] id: HP:0009914 name: Cyclopia def: "Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose." [DDD:ncarter] subset: hposlim_core synonym: "Cyclops eye" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Single central eye" EXACT layperson [] xref: MSH:C562573 xref: SNOMEDCT_US:205798005 xref: UMLS:C0266667 is_a: HP:0100886 ! Abnormality of globe location created_by: peter creation_date: 2009-05-01T03:52:15Z [Term] id: HP:0009915 name: Corneal asymmetry def: "The presence of a size difference between the left and right cornea." [HPO:probinson] subset: hposlim_core synonym: "Asymmetry of the corneas" EXACT layperson [] xref: UMLS:C4021373 is_a: HP:0001120 ! Abnormality of corneal size created_by: peter creation_date: 2009-05-02T05:06:20Z [Term] id: HP:0009916 name: Anisocoria def: "Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease." [HPO:probinson] comment: Pathologic anisocoria can reflect an abnormality of the musculature of the iris or of the sympathetic or prasympathetic innervation of the iris. subset: hposlim_core synonym: "Asymmetric pupil sizes" EXACT layperson [] synonym: "Asymmetry of the pupils" EXACT layperson [] synonym: "Unequal pupil dilatation" EXACT [] synonym: "Unequal pupil size" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D015875 xref: SNOMEDCT_US:13045009 xref: UMLS:C0003079 is_a: HP:0000615 ! Abnormal pupil morphology created_by: peter creation_date: 2009-05-02T05:46:50Z [Term] id: HP:0009917 name: Persistent pupillary membrane def: "The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil." [HPO:probinson] comment: The tunica vasculosa lentis anterior (pupillary membrane) normally undergoes atrophy in the third trimester of pregnancy. If the membrane does not completely atrophy, then remnants of membranous structures can be observed to emrge from the iris. xref: SNOMEDCT_US:95500008 xref: UMLS:C0344541 is_a: HP:0000615 ! Abnormal pupil morphology created_by: peter creation_date: 2009-05-02T05:51:28Z [Term] id: HP:0009918 name: Ectopia pupillae def: "A malposition of the pupil owing to a developmental defect of the iris." [DDD:gblack, HPO:probinson] subset: hposlim_core synonym: "Corectopia" EXACT [] synonym: "Displaced pupil" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:C536185 xref: SNOMEDCT_US:193523008 xref: SNOMEDCT_US:392461003 xref: UMLS:C1271219 is_a: HP:0000615 ! Abnormal pupil morphology created_by: peter creation_date: 2009-05-02T06:01:01Z [Term] id: HP:0009919 name: Retinoblastoma def: "A tumor of the eye originating from cells of the retina." [HPO:curators] synonym: "Retina tumor" BROAD layperson [ORCID:0000-0001-5208-3432] xref: MSH:D012175 xref: MSH:D019572 xref: NCIT:C7541 xref: SNOMEDCT_US:127002001 xref: SNOMEDCT_US:19906005 xref: SNOMEDCT_US:370967009 xref: UMLS:C0035335 xref: UMLS:C0524801 is_a: HP:0002898 ! Embryonal neoplasm is_a: HP:0012777 ! Retinal neoplasm is_a: HP:0030063 ! Neuroepithelial neoplasm created_by: peter creation_date: 2009-05-02T06:23:25Z [Term] id: HP:0009920 name: Nevus of Ota def: "A dermal melanocytic hamartoma that presents as bluish hyperpigmentation on the face along the first or second branches of the trigeminal nerve. Nevus of Ota may involve the sclera." [PMID:14673306] synonym: "Congenital melanosis bulbi" EXACT [] synonym: "Naevus fuscoceruleus ophthalmomaxillaris" EXACT HP:0045076 [] synonym: "Nevus fuscoceruleus ophthalmomaxillaris" EXACT [] synonym: "Oculodermal melanocytosis" EXACT [] xref: MSH:D009507 xref: SNOMEDCT_US:254817005 xref: SNOMEDCT_US:414929001 xref: UMLS:C0027961 is_a: HP:0003764 ! Nevus created_by: peter creation_date: 2009-05-02T06:26:59Z [Term] id: HP:0009921 name: Duane anomaly alt_id: HP:0001109 def: "A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction" [HPO:probinson] subset: hposlim_core synonym: "Globe retraction and deviation on adduction" RELATED [] synonym: "Limited eye motility from Duane anomaly" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Limited eye movement from Duane anomaly" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] xref: MSH:D004370 xref: SNOMEDCT_US:60318001 xref: UMLS:C0013261 xref: UMLS:C1846464 xref: UMLS:C4072873 is_a: HP:0025068 ! Incomitant strabismus created_by: peter creation_date: 2009-05-02T06:32:41Z [Term] id: HP:0009922 name: Vascular remnant arising from the disc def: "Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth." [HPO:probinson, PMID:23772130] synonym: "Persistence of the hyaloid artery" EXACT [] synonym: "Persistent hyaloid artery" EXACT [] xref: UMLS:C4024160 is_a: HP:0007968 ! Remnants of the hyaloid vascular system created_by: peter creation_date: 2009-05-02T06:43:07Z [Term] id: HP:0009924 name: Aplasia/Hypoplasia involving the nose def: "Underdevelopment or absence of the nose or parts thereof." [HPO:curators] synonym: "Decreased nasal size" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased size of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Hypoplasia of the nose" NARROW [ORCID:0000-0001-5889-4463] synonym: "Hypotrophic nose" NARROW [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:204519007 xref: SNOMEDCT_US:93278002 xref: UMLS:C0685684 xref: UMLS:C4024159 xref: UMLS:C4280392 is_a: HP:0005105 ! Abnormal nasal morphology created_by: peter creation_date: 2009-05-05T06:44:04Z [Term] id: HP:0009926 name: Epiphora alt_id: HP:0001486 def: "Abnormally increased lacrimation, that is, excessive tearing (watering eye)." [DDD:ncarter, HPO:probinson, ORCID:0000-0003-0986-4123, PMID:28003974] comment: Epiphora or tearing is the presence of a watering eye, which is a common complaint for referrals to oculoplastics clinics for evaluation. The etiology of tearing can be divided into two categories: reflex tearing and reduced tear outflow. Reflex tearing is usually secondary to dry eye, inflammation, allergy or other ocular surface disorders, whereas primary hypersecretion of the lacrimal glands is rare. Reduced tear outflow is due to eyelid malposition, tear pump dysfunction caused by eyelid laxity, or obstruction at any portion of the nasaolacrimal drainage system. subset: hposlim_core synonym: "Increased lacrimation" EXACT [] synonym: "Increased tears" EXACT layperson [] synonym: "Tearing" EXACT layperson [] synonym: "Watery eyes" EXACT layperson [] xref: MSH:D007766 xref: SNOMEDCT_US:193982009 xref: SNOMEDCT_US:418035005 xref: UMLS:C0152227 is_a: HP:0000632 ! Lacrimation abnormality created_by: peter creation_date: 2009-05-02T10:52:28Z [Term] id: HP:0009927 name: Aplasia of the nose def: "Complete absence of all nasal structures." [HPO:probinson] subset: hposlim_core synonym: "Absent nose" EXACT layperson [] synonym: "Arrhinia" EXACT [] synonym: "Failure of development of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Missing nose" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Nasal underdevelopment" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of nose" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:C537438 xref: SNOMEDCT_US:111317000 xref: UMLS:C0265740 xref: UMLS:C4280391 is_a: HP:0009924 ! Aplasia/Hypoplasia involving the nose created_by: peter creation_date: 2009-05-05T06:44:57Z [Term] id: HP:0009928 name: Thick nasal alae def: "Increase in bulk of the ala nasi." [pmid:19152422] subset: hposlim_core synonym: "Ala nasi, thick" EXACT [] synonym: "Thickening of the alae nasi" EXACT [] xref: UMLS:C1844809 is_a: HP:0000429 ! Abnormality of the nasal alae created_by: peter creation_date: 2009-05-05T06:47:43Z [Term] id: HP:0009929 name: Abnormality of the columella def: "An abnormality of the columella." [HPO:curators] comment: The columella is the fleshy external end of the nasal septum. synonym: "Anomaly of the columella" EXACT [ORCID:0000-0001-5889-4463] synonym: "Deformity of the columella" NARROW [ORCID:0000-0001-5889-4463] synonym: "Malformation of the columella" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4024158 is_a: HP:0010938 ! Abnormality of the external nose created_by: peter creation_date: 2009-05-05T06:51:28Z [Term] id: HP:0009930 name: Asymmetry of the nares def: "Asymmetry or size difference between the left and right nostril." [HPO:probinson] subset: hposlim_core synonym: "Asymmetry of nostrils" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Crooked nostrils" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Unequal nostril shape" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Unequal nostril size" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Uneven nostril shape" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Uneven nostril size" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4024157 is_a: HP:0005288 ! Abnormality of the nares created_by: peter creation_date: 2009-05-05T07:06:20Z [Term] id: HP:0009931 name: Enlarged naris def: "Increased aperture of the nostril." [pmid:19152422] comment: The nostrils or nares are typically symmetric, wide openings. They should be assessed with the face at rest to avoid the effect of flared alae nasi that occurs with distress. Note that the nares change with age, from rounded in infancy to elongated at a later age. subset: hposlim_core synonym: "Broad nostril" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Dilated nares" EXACT [ORCID:0000-0001-5889-4463] synonym: "Dilated nostril" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Enlarged nares" EXACT [ORCID:0000-0001-5889-4463] synonym: "Enlarged nostril" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased diameter of nares" EXACT [] synonym: "Increased diameter of nostril" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased width of nares" EXACT [] synonym: "Large nares" EXACT [] synonym: "Naris, broad" EXACT [] synonym: "Naris, enlarged" EXACT [] synonym: "Wide nares" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Wide nostril" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:399353008 xref: UMLS:C0426440 is_a: HP:0005288 ! Abnormality of the nares creation_date: 2009-05-10T10:30:20Z [Term] id: HP:0009932 name: Single naris def: "The presence of only a single nostril." [pmid:19152422] comment: The single opening may occur in the midline or it can occur on one side, that is, it can be symmetric or asymmetric. Although the columella is invariably absent, this is implicit and does not need to be separately specified. subset: hposlim_core synonym: "Mono nostril" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "One nostril" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Single nare" EXACT [ORCID:0000-0001-5889-4463] synonym: "Single nostril" EXACT layperson [] xref: SNOMEDCT_US:95266003 xref: UMLS:C0685682 is_a: HP:0005288 ! Abnormality of the nares created_by: peter creation_date: 2009-05-10T10:33:56Z [Term] id: HP:0009933 name: Narrow naris def: "Slender, slit-like aperture of the nostril." [HPO:probinson] subset: hposlim_core synonym: "Collapsed nostrils" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Naris, narrow" EXACT [] synonym: "Naris, slit-like" EXACT [] synonym: "Narrow nares" EXACT [ORCID:0000-0001-5889-4463] synonym: "Narrow nostrils" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Slit-like nostrils" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Small nostrils" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Thin nares" EXACT [] synonym: "Thin nostrils" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:249336003 xref: SNOMEDCT_US:249339005 xref: UMLS:C0426436 xref: UMLS:C0426439 xref: UMLS:C1849366 xref: UMLS:C4280390 is_a: HP:0005288 ! Abnormality of the nares created_by: peter creation_date: 2009-05-10T10:35:51Z [Term] id: HP:0009934 name: Supernumerary naris def: "The presence of more than two nostrils." [pmid:19152422] subset: hposlim_core synonym: "Accessory nares" EXACT [ORCID:0000-0001-5889-4463] synonym: "Accessory nostril" EXACT [ORCID:0000-0001-5889-4463] synonym: "Extra nostril" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Supernumerary nares" EXACT [ORCID:0000-0001-5889-4463] synonym: "Supernumerary nostrils" EXACT [] xref: UMLS:C4021372 is_a: HP:0005288 ! Abnormality of the nares created_by: peter creation_date: 2009-05-10T10:37:41Z [Term] id: HP:0009935 name: Aplasia/Hypoplasia of the nasal septum def: "Absence or underdevelopment of the nasal septum." [HPO:curators] synonym: "Ageneis of nasal septum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of nasal septum" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of nasal septum" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4024156 is_a: HP:0000419 ! Abnormality of the nasal septum is_a: HP:0009924 ! Aplasia/Hypoplasia involving the nose created_by: peter creation_date: 2009-05-10T10:40:21Z [Term] id: HP:0009936 name: Narrow nasal septum def: "Abnormally narrow nasal septum." [HPO:probinson] subset: hposlim_core synonym: "Decreased width of nasal septum" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Narrow nasal septum" EXACT layperson [] synonym: "Narrow septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Thin nasal septum" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Thin septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4024155 is_a: HP:0000419 ! Abnormality of the nasal septum created_by: peter creation_date: 2009-05-10T10:46:40Z [Term] id: HP:0009937 name: Facial hirsutism def: "Excess facial hair." [HPO:curators] synonym: "Excessive face hair" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1850041 xref: UMLS:C2128203 is_a: HP:0009889 ! Localized hirsutism created_by: peter creation_date: 2009-05-10T10:58:49Z [Term] id: HP:0009938 name: Sunken cheeks def: "Lack or loss of the soft tissues between the zygomata and mandible." [pmid:19125436] subset: hposlim_core synonym: "Depressed cheeks" EXACT layperson [] synonym: "Hollow cheeks" EXACT layperson [] synonym: "Sunken cheeks" EXACT layperson [] xref: UMLS:C4024154 is_a: HP:0004426 ! Abnormality of the cheek created_by: peter creation_date: 2009-05-10T11:17:18Z [Term] id: HP:0009939 name: Mandibular aplasia def: "Absence of the mandible." [HPO:curators] synonym: "Absence of lower jaw" EXACT [] synonym: "Absence of lower jaw bone" EXACT [] synonym: "Absence of lower jaw bones" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Absence of mandible" EXACT [] synonym: "Absent mandible" EXACT [] synonym: "Agenesis of the mandible" EXACT [ORCID:0000-0001-5889-4463] synonym: "Agnathia" BROAD [ORCID:0000-0001-5889-4463] synonym: "Aplasia of the lower jaw bone" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of lower jaw" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Failure of development of mandible" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing lower jaw" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:91896009 xref: SNOMEDCT_US:91922000 xref: UMLS:C0685775 xref: UMLS:C0685776 xref: UMLS:C4021371 is_a: HP:0009118 ! Aplasia/Hypoplasia of the mandible created_by: peter creation_date: 2009-05-10T11:27:14Z [Term] id: HP:0009940 name: Asymmetry of the mandible def: "Lack of symmetry between the left and right mandible." [HPO:probinson] subset: hposlim_core synonym: "Asymmetry of lower jaw" EXACT layperson [] synonym: "Canted lower jaw" EXACT [ORCID:0000-0001-5889-4463] synonym: "Canted mandible" EXACT [ORCID:0000-0001-5889-4463] synonym: "Crooked lower jaw" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Deviation of lower jaw" EXACT [] synonym: "Deviation of mandible" EXACT [] synonym: "Deviation of the lower jaw" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Deviation of the mandible" RELATED [ORCID:0000-0001-5889-4463] synonym: "Lower jaw shifted to one side" EXACT layperson [] synonym: "Tilted lower jaw" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Tilted mandible" BROAD [ORCID:0000-0001-5889-4463] synonym: "Uneven lower jaw" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Uneven mandible" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:235082006 xref: UMLS:C0399518 xref: UMLS:C4082201 is_a: HP:0000277 ! Abnormality of the mandible created_by: peter creation_date: 2009-05-10T11:28:02Z [Term] id: HP:0009941 name: Asymmetry of the mouth def: "The presence of an asymmetric mouth." [HPO:probinson] subset: hposlim_core synonym: "Asymmetry of oral cavity" RELATED [ORCID:0000-0001-5889-4463] synonym: "Asymmetry of the mouth" EXACT layperson [] synonym: "Canted mouth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Crooked mouth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Tilted mouth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Uneven mouth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4024153 is_a: HP:0011338 ! Abnormality of mouth shape created_by: peter creation_date: 2009-05-10T11:30:31Z [Term] id: HP:0009942 name: Duplication of thumb phalanx alt_id: HP:0009661 def: "Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:sdoelken] synonym: "Complete/partial duplication of phalanges of the thumb" EXACT [] synonym: "Duplicated thumb" RELATED [] synonym: "Duplicated thumbs" EXACT [HPO:skoehler] synonym: "Duplication of phalanx of thumb" EXACT [] xref: UMLS:C4021370 is_a: HP:0009602 ! Abnormality of thumb phalanx is_a: HP:0009997 ! Duplication of phalanx of hand created_by: doelkens creation_date: 2009-05-15T12:51:02Z [Term] id: HP:0009943 name: Complete duplication of thumb phalanx alt_id: HP:0002801 alt_id: HP:0004067 def: "A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism." [HPO:probinson] synonym: "Complete duplication of the phalanges of the thumb" EXACT [] synonym: "Complete duplication of thumb bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Digitalization of thumb" EXACT [] synonym: "Digitalization of thumbs" EXACT [] xref: UMLS:C3554724 is_a: HP:0009942 ! Duplication of thumb phalanx is_a: HP:0009998 ! Complete duplication of phalanx of hand created_by: doelkens creation_date: 2009-05-15T12:51:35Z [Term] id: HP:0009944 name: Partial duplication of thumb phalanx alt_id: HP:0001244 alt_id: HP:0004070 def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:probinson] synonym: "Bifid thumb" EXACT [] synonym: "Notching of thumb phalanges" EXACT [] synonym: "Partial duplication of the phalanges of the thumb" EXACT [] synonym: "Partial duplication of the thumb bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4082168 is_a: HP:0009942 ! Duplication of thumb phalanx is_a: HP:0009999 ! Partial duplication of the phalanx of hand created_by: doelkens creation_date: 2009-05-15T12:51:57Z [Term] id: HP:0009945 name: Duplication of phalanx of 2nd finger def: "This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [HPO:curators] synonym: "Duplication of the bones of index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of phalanges of the 2nd finger" EXACT [] xref: UMLS:C4021369 is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger is_a: HP:0009946 ! Polydactyly affecting the 2nd finger created_by: doelkens creation_date: 2009-05-15T01:00:37Z [Term] id: HP:0009946 name: Polydactyly affecting the 2nd finger synonym: "Extra index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024152 is_a: HP:0004100 ! Abnormal 2nd finger morphology is_a: HP:0006159 ! Mesoaxial hand polydactyly created_by: doelkens creation_date: 2009-05-15T01:01:48Z [Term] id: HP:0009947 name: Duplication of the proximal phalanx of the 2nd finger def: "Partial or complete duplication of the second proximal phalanx of hand." [HPO:probinson] synonym: "Duplication of the proximal bones of the index finger" EXACT [] synonym: "Partial/complete duplication of the proximal phalanx of the 2nd finger" EXACT [] xref: UMLS:C4021368 is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009945 ! Duplication of phalanx of 2nd finger is_a: HP:0010006 ! Duplication of the proximal phalanx of hand created_by: doelkens creation_date: 2009-05-15T01:58:58Z [Term] id: HP:0009948 name: Duplication of the distal phalanx of the 2nd finger alt_id: HP:0004144 def: "Partial or complete duplication of the distal phalanx of index finger." [HPO:probinson] synonym: "Partial/complete duplication of the distal phalanx of the 2nd finger" EXACT [] synonym: "Partial/complete duplication of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021367 is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009883 ! Duplication of the distal phalanx of hand is_a: HP:0009945 ! Duplication of phalanx of 2nd finger created_by: doelkens creation_date: 2009-05-15T01:58:58Z [Term] id: HP:0009949 name: Duplication of the middle phalanx of the 2nd finger def: "Partial or complete duplication of the middle phalanx of index finger." [HPO:probinson] synonym: "Partial/complete duplication of the middle bones of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the middle phalanx of the 2nd finger" EXACT [] xref: UMLS:C4021366 is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009945 ! Duplication of phalanx of 2nd finger is_a: HP:0010008 ! Duplication of the middle phalanx of hand created_by: doelkens creation_date: 2009-05-15T01:58:58Z [Term] id: HP:0009950 name: Complete duplication of the distal phalanx of the 2nd finger def: "Complete duplication of the distal phalanx of index finger." [HPO:probinson] synonym: "Complete duplication of the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024151 is_a: HP:0009948 ! Duplication of the distal phalanx of the 2nd finger is_a: HP:0009957 ! Complete duplication of the phalanges of the 2nd finger is_a: HP:0010001 ! Complete duplication of the distal phalanges of the hand created_by: doelkens creation_date: 2009-05-15T02:03:28Z [Term] id: HP:0009951 name: Partial duplication of the distal phalanx of the 2nd finger def: "Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] synonym: "Bifid terminal phalanx of the 2nd finger" EXACT [] synonym: "Notched outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial duplication of the outermost bone of the 2nd finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021365 is_a: HP:0009948 ! Duplication of the distal phalanx of the 2nd finger is_a: HP:0009956 ! Partial duplication of the phalanges of the 2nd finger is_a: HP:0010004 ! Partial duplication of the distal phalanges of the hand created_by: doelkens creation_date: 2009-05-15T02:03:28Z [Term] id: HP:0009952 name: Complete duplication of the middle phalanx of the 2nd finger def: "Complete duplication of the middle phalanx of index finger." [HPO:probinson] synonym: "Complete duplication of the middle bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024150 is_a: HP:0009949 ! Duplication of the middle phalanx of the 2nd finger is_a: HP:0009957 ! Complete duplication of the phalanges of the 2nd finger is_a: HP:0010002 ! Complete duplication of the middle phalanges of the hand created_by: doelkens creation_date: 2009-05-15T02:05:27Z [Term] id: HP:0009953 name: Partial duplication of the middle phalanx of the 2nd finger def: "Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] synonym: "Partial duplication of the middle bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024149 is_a: HP:0009949 ! Duplication of the middle phalanx of the 2nd finger is_a: HP:0009956 ! Partial duplication of the phalanges of the 2nd finger is_a: HP:0010005 ! Partial duplication of the middle phalanges of the hand created_by: doelkens creation_date: 2009-05-15T02:05:27Z [Term] id: HP:0009954 name: Complete duplication of the proximal phalanx of the 2nd finger def: "Complete duplication of the Second proximal phalanx of hand." [HPO:probinson] synonym: "Complete duplication of the proximal bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024148 is_a: HP:0009947 ! Duplication of the proximal phalanx of the 2nd finger is_a: HP:0009957 ! Complete duplication of the phalanges of the 2nd finger is_a: HP:0010000 ! Complete duplication of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-15T02:06:11Z [Term] id: HP:0009955 name: Partial duplication of the proximal phalanx of the 2nd finger def: "Partial duplication of the Second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] synonym: "Partial duplication of the proximal bones of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024147 is_a: HP:0009947 ! Duplication of the proximal phalanx of the 2nd finger is_a: HP:0009956 ! Partial duplication of the phalanges of the 2nd finger is_a: HP:0010003 ! Partial duplication of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-15T02:06:11Z [Term] id: HP:0009956 name: Partial duplication of the phalanges of the 2nd finger def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators] synonym: "Partial duplication of the bones of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024146 is_a: HP:0009945 ! Duplication of phalanx of 2nd finger is_a: HP:0009999 ! Partial duplication of the phalanx of hand created_by: doelkens creation_date: 2009-05-15T02:07:41Z [Term] id: HP:0009957 name: Complete duplication of the phalanges of the 2nd finger def: "A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism." [HPO:curators] synonym: "Complete duplication of the bones of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024145 is_a: HP:0009945 ! Duplication of phalanx of 2nd finger is_a: HP:0009998 ! Complete duplication of phalanx of hand created_by: doelkens creation_date: 2009-05-15T02:08:02Z [Term] id: HP:0009958 name: Polydactyly affecting the 3rd finger synonym: "Extra middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024144 is_a: HP:0004150 ! Abnormal 3rd finger morphology is_a: HP:0006159 ! Mesoaxial hand polydactyly created_by: doelkens creation_date: 2009-05-26T09:54:29Z [Term] id: HP:0009959 name: Duplication of phalanx of 3rd finger def: "This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [HPO:sdoelken] synonym: "Duplication of middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of phalanges of the 3rd finger" EXACT [] xref: UMLS:C4021364 is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology is_a: HP:0009958 ! Polydactyly affecting the 3rd finger created_by: doelkens creation_date: 2009-05-26T09:54:51Z [Term] id: HP:0009960 name: Complete duplication of the phalanges of the 3rd finger def: "A complete duplication affecting one or more of the phalanges of the 3rd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism." [HPO:curators] synonym: "Complete duplication of middle finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024143 is_a: HP:0009959 ! Duplication of phalanx of 3rd finger is_a: HP:0009998 ! Complete duplication of phalanx of hand created_by: doelkens creation_date: 2009-05-26T12:46:36Z [Term] id: HP:0009961 name: Partial duplication of the phalanges of the 3rd finger def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators] synonym: "Partial duplication of middle finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024142 is_a: HP:0009959 ! Duplication of phalanx of 3rd finger is_a: HP:0009999 ! Partial duplication of the phalanx of hand created_by: doelkens creation_date: 2009-05-26T12:46:36Z [Term] id: HP:0009962 name: Duplication of the distal phalanx of the 3rd finger def: "Partial or complete duplication of the distal phalanx of middle finger." [HPO:probinson] synonym: "Partial/complete duplication of the distal phalanx of the 3rd finger" EXACT [] synonym: "Partial/complete duplication of the outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021363 is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009883 ! Duplication of the distal phalanx of hand is_a: HP:0009959 ! Duplication of phalanx of 3rd finger created_by: doelkens creation_date: 2009-05-26T12:46:36Z [Term] id: HP:0009963 name: Duplication of the middle phalanx of the 3rd finger alt_id: HP:0004157 alt_id: HP:0004174 def: "Partial or complete duplication of the middle phalanx of middle finger." [HPO:probinson] synonym: "Duplication of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the middle phalanx of the 3rd finger" EXACT [] xref: UMLS:C4021362 is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009959 ! Duplication of phalanx of 3rd finger is_a: HP:0010008 ! Duplication of the middle phalanx of hand created_by: doelkens creation_date: 2009-05-26T12:46:36Z [Term] id: HP:0009964 name: Duplication of the proximal phalanx of the 3rd finger def: "Partial or complete duplication of the third proximal phalanx of hand." [HPO:probinson] synonym: "Duplication of the proximal bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the proximal phalanx of the 3rd finger" EXACT [] xref: UMLS:C4021361 is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009959 ! Duplication of phalanx of 3rd finger is_a: HP:0010006 ! Duplication of the proximal phalanx of hand created_by: doelkens creation_date: 2009-05-26T12:46:36Z [Term] id: HP:0009965 name: Complete duplication of the distal phalanx of the 3rd finger def: "Complete duplication of the distal phalanx of middle finger" [HPO:probinson] synonym: "Complete duplication of the outermost bone of the 3rd finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024141 is_a: HP:0009960 ! Complete duplication of the phalanges of the 3rd finger is_a: HP:0009962 ! Duplication of the distal phalanx of the 3rd finger is_a: HP:0010001 ! Complete duplication of the distal phalanges of the hand created_by: doelkens creation_date: 2009-05-26T12:49:35Z [Term] id: HP:0009966 name: Complete duplication of the middle phalanx of the 3rd finger def: "Complete duplication of the middle phalanx of middle finger." [HPO:probinson] synonym: "Complete duplication of the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024140 is_a: HP:0009960 ! Complete duplication of the phalanges of the 3rd finger is_a: HP:0009963 ! Duplication of the middle phalanx of the 3rd finger is_a: HP:0010002 ! Complete duplication of the middle phalanges of the hand created_by: doelkens creation_date: 2009-05-26T12:49:35Z [Term] id: HP:0009967 name: Complete duplication of the proximal phalanx of the 3rd finger def: "Complete duplication of the third proximal phalanx of hand." [HPO:probinson] synonym: "Complete duplication of the innermost bone of the 3rd finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024139 is_a: HP:0009960 ! Complete duplication of the phalanges of the 3rd finger is_a: HP:0009964 ! Duplication of the proximal phalanx of the 3rd finger is_a: HP:0010000 ! Complete duplication of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-26T12:49:35Z [Term] id: HP:0009968 name: Partial duplication of the distal phalanx of the 3rd finger def: "Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] synonym: "Bifid terminal phalanx of the 3rd finger" EXACT [] synonym: "Notched outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial duplication of the outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021360 is_a: HP:0009961 ! Partial duplication of the phalanges of the 3rd finger is_a: HP:0009962 ! Duplication of the distal phalanx of the 3rd finger is_a: HP:0010004 ! Partial duplication of the distal phalanges of the hand created_by: doelkens creation_date: 2009-05-26T12:49:59Z [Term] id: HP:0009969 name: Partial duplication of the middle phalanx of the 3rd finger def: "Partial duplication of the middle phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] synonym: "Partial duplication of the middle bone of the 3rd finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024138 is_a: HP:0009961 ! Partial duplication of the phalanges of the 3rd finger is_a: HP:0009963 ! Duplication of the middle phalanx of the 3rd finger is_a: HP:0010005 ! Partial duplication of the middle phalanges of the hand created_by: doelkens creation_date: 2009-05-26T12:49:59Z [Term] id: HP:0009970 name: Partial duplication of the proximal phalanx of the 3rd finger def: "Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] synonym: "Partial duplication of the proximal bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024137 is_a: HP:0009961 ! Partial duplication of the phalanges of the 3rd finger is_a: HP:0009964 ! Duplication of the proximal phalanx of the 3rd finger is_a: HP:0010003 ! Partial duplication of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-26T12:49:59Z [Term] id: HP:0009971 name: Polydactyly affecting the 4th finger synonym: "Extra ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024136 is_a: HP:0004188 ! Abnormal 4th finger morphology is_a: HP:0006159 ! Mesoaxial hand polydactyly created_by: doelkens creation_date: 2009-05-26T02:19:06Z [Term] id: HP:0009972 name: Duplication of phalanx of 4th finger def: "This term applies if one or more of the phalanges of the 4th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [HPO:sdoelken] synonym: "Duplication of bones of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of phalanges of the 4th finger" EXACT [] xref: UMLS:C4021359 is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology is_a: HP:0009971 ! Polydactyly affecting the 4th finger created_by: doelkens creation_date: 2009-05-26T02:19:28Z [Term] id: HP:0009973 name: Complete duplication of the phalanges of the 4th finger def: "A complete duplication affecting one or more of the phalanges of the 4th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism." [HPO:curators] synonym: "Complete duplication of the bones of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024135 is_a: HP:0009972 ! Duplication of phalanx of 4th finger is_a: HP:0009998 ! Complete duplication of phalanx of hand created_by: doelkens creation_date: 2009-05-26T02:20:08Z [Term] id: HP:0009974 name: Partial duplication of the phalanges of the 4th finger def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 4th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators] synonym: "Partial duplication of the bones of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024134 is_a: HP:0009972 ! Duplication of phalanx of 4th finger is_a: HP:0009999 ! Partial duplication of the phalanx of hand created_by: doelkens creation_date: 2009-05-26T02:20:08Z [Term] id: HP:0009975 name: Duplication of the distal phalanx of the 4th finger def: "Partial or complete duplication of the distal phalanx of ring finger." [HPO:probinson] synonym: "Partial/complete duplication of the distal phalanx of the 4th finger" EXACT [] synonym: "Partial/complete duplication of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021358 is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009883 ! Duplication of the distal phalanx of hand is_a: HP:0009972 ! Duplication of phalanx of 4th finger created_by: doelkens creation_date: 2009-05-26T02:20:08Z [Term] id: HP:0009976 name: Duplication of the middle phalanx of the 4th finger def: "Partial or complete duplication of the middle phalanx of ring finger." [HPO:probinson] synonym: "Partial/complete duplication of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the middle phalanx of the 4th finger" EXACT [] xref: UMLS:C4021357 is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009972 ! Duplication of phalanx of 4th finger is_a: HP:0010008 ! Duplication of the middle phalanx of hand created_by: doelkens creation_date: 2009-05-26T02:20:08Z [Term] id: HP:0009977 name: Duplication of the proximal phalanx of the 4th finger def: "Partial or complete duplication of the fourth proximal phalanx of hand." [HPO:probinson] synonym: "Duplication of the proximal bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the proximal phalanx of the 4th finger" EXACT [] xref: UMLS:C4021356 is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009972 ! Duplication of phalanx of 4th finger is_a: HP:0010006 ! Duplication of the proximal phalanx of hand created_by: doelkens creation_date: 2009-05-26T02:20:08Z [Term] id: HP:0009978 name: Complete duplication of the distal phalanx of the 4th finger def: "Complete duplication of the distal phalanx of ring finger." [HPO:probinson] synonym: "Complete duplication of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024133 is_a: HP:0009973 ! Complete duplication of the phalanges of the 4th finger is_a: HP:0009975 ! Duplication of the distal phalanx of the 4th finger is_a: HP:0010001 ! Complete duplication of the distal phalanges of the hand created_by: doelkens creation_date: 2009-05-26T02:20:23Z [Term] id: HP:0009979 name: Complete duplication of the middle phalanx of the 4th finger def: "Complete duplication of the middle phalanx of ring finger." [HPO:probinson] synonym: "Complete duplication of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024132 is_a: HP:0009973 ! Complete duplication of the phalanges of the 4th finger is_a: HP:0009976 ! Duplication of the middle phalanx of the 4th finger is_a: HP:0010002 ! Complete duplication of the middle phalanges of the hand created_by: doelkens creation_date: 2009-05-26T02:20:23Z [Term] id: HP:0009980 name: Complete duplication of the proximal phalanx of the 4th finger def: "Complete duplication of the fourth proximal phalanx of hand." [HPO:probinson] synonym: "Complete duplication of the proximal bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024131 is_a: HP:0009973 ! Complete duplication of the phalanges of the 4th finger is_a: HP:0009977 ! Duplication of the proximal phalanx of the 4th finger is_a: HP:0010000 ! Complete duplication of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-26T02:20:23Z [Term] id: HP:0009981 name: Partial duplication of the distal phalanx of the 4th finger def: "Partial duplication of the distal phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] synonym: "Bifid terminal phalanx of the 4th finger" EXACT [] synonym: "Notched outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial duplication of the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021355 is_a: HP:0009974 ! Partial duplication of the phalanges of the 4th finger is_a: HP:0009975 ! Duplication of the distal phalanx of the 4th finger is_a: HP:0010004 ! Partial duplication of the distal phalanges of the hand created_by: doelkens creation_date: 2009-05-26T02:20:37Z [Term] id: HP:0009982 name: Partial duplication of the middle phalanx of the 4th finger def: "Partial duplication of the middle phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] synonym: "Partial duplication of the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024130 is_a: HP:0009974 ! Partial duplication of the phalanges of the 4th finger is_a: HP:0009976 ! Duplication of the middle phalanx of the 4th finger is_a: HP:0010005 ! Partial duplication of the middle phalanges of the hand created_by: doelkens creation_date: 2009-05-26T02:20:37Z [Term] id: HP:0009983 name: Partial duplication of the proximal phalanx of the 4th finger def: "Partial duplication of the fourth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] synonym: "Partial duplication of the innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024129 is_a: HP:0009974 ! Partial duplication of the phalanges of the 4th finger is_a: HP:0009977 ! Duplication of the proximal phalanx of the 4th finger is_a: HP:0010003 ! Partial duplication of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-26T02:20:37Z [Term] id: HP:0009985 name: Duplication of phalanx of 5th finger def: "This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [HPO:sdoelken] synonym: "Partial/complete duplication of little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of phalanges of the 5th finger" EXACT [] synonym: "Partial/complete duplication of pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021354 is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology is_a: HP:0009997 ! Duplication of phalanx of hand created_by: doelkens creation_date: 2009-05-26T02:23:38Z [Term] id: HP:0009986 name: Complete duplication of the phalanges of the 5th finger def: "A complete duplication affecting one or more of the phalanges of the 5th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism." [HPO:curators] synonym: "Complete duplication of the little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Complete duplication of the pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Complete duplication of the pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024128 is_a: HP:0009985 ! Duplication of phalanx of 5th finger is_a: HP:0009998 ! Complete duplication of phalanx of hand created_by: doelkens creation_date: 2009-05-26T02:24:20Z [Term] id: HP:0009987 name: Partial duplication of the phalanges of the 5th finger def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 5th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators] synonym: "Partial duplication of the little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial duplication of the pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial duplication of the pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024127 is_a: HP:0009985 ! Duplication of phalanx of 5th finger is_a: HP:0009999 ! Partial duplication of the phalanx of hand created_by: doelkens creation_date: 2009-05-26T02:24:20Z [Term] id: HP:0009988 name: Duplication of the distal phalanx of the 5th finger def: "Partial or complete duplication of the distal phalanx of little finger." [HPO:probinson] synonym: "Duplication of the outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of the outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of the outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the distal phalanx of the 5th finger" EXACT [] xref: UMLS:C4021353 is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009883 ! Duplication of the distal phalanx of hand is_a: HP:0009985 ! Duplication of phalanx of 5th finger created_by: doelkens creation_date: 2009-05-26T02:24:20Z [Term] id: HP:0009989 name: Duplication of the middle phalanx of the 5th finger def: "Partial or complete duplication of the fifth middle phalanx of hand." [HPO:probinson] synonym: "Duplication of the middle little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of the middle pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of the middle pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the middle phalanx of the 5th finger" EXACT [] xref: UMLS:C4021352 is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009985 ! Duplication of phalanx of 5th finger is_a: HP:0010008 ! Duplication of the middle phalanx of hand created_by: doelkens creation_date: 2009-05-26T02:24:20Z [Term] id: HP:0009990 name: Duplication of the proximal phalanx of the 5th finger def: "Partial or complete duplication of the fifth proximal phalanx of hand." [HPO:probinson] synonym: "Duplication of the innermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of the innermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of the innermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the proximal phalanx of the 5th finger" EXACT [] xref: UMLS:C4021351 is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009985 ! Duplication of phalanx of 5th finger is_a: HP:0010006 ! Duplication of the proximal phalanx of hand created_by: doelkens creation_date: 2009-05-26T02:24:20Z [Term] id: HP:0009991 name: Complete duplication of the distal phalanx of the 5th finger def: "Complete duplication of the distal phalanx of little finger." [HPO:probinson] synonym: "Complete duplication of the outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Complete duplication of the outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Complete duplication of the outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024126 is_a: HP:0009986 ! Complete duplication of the phalanges of the 5th finger is_a: HP:0009988 ! Duplication of the distal phalanx of the 5th finger is_a: HP:0010001 ! Complete duplication of the distal phalanges of the hand created_by: doelkens creation_date: 2009-05-26T02:24:33Z [Term] id: HP:0009992 name: Complete duplication of the middle phalanx of the 5th finger def: "Complete duplication of the fifth middle phalanx of hand." [HPO:probinson] synonym: "Complete duplication of the middle little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Complete duplication of the middle pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Complete duplication of the middle pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024125 is_a: HP:0009986 ! Complete duplication of the phalanges of the 5th finger is_a: HP:0009989 ! Duplication of the middle phalanx of the 5th finger is_a: HP:0010002 ! Complete duplication of the middle phalanges of the hand created_by: doelkens creation_date: 2009-05-26T02:24:33Z [Term] id: HP:0009993 name: Complete duplication of the proximal phalanx of the 5th finger def: "Complete duplication of the fifth proximal phalanx of hand." [HPO:probinson] synonym: "Complete duplication of the innermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Complete duplication of the innermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Complete duplication of the innermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024124 is_a: HP:0009986 ! Complete duplication of the phalanges of the 5th finger is_a: HP:0009990 ! Duplication of the proximal phalanx of the 5th finger is_a: HP:0010000 ! Complete duplication of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-26T02:24:33Z [Term] id: HP:0009994 name: Partial duplication of the distal phalanx of the 5th finger def: "Partial duplication of the distal phalanx of little finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] synonym: "Bifid terminal phalanx of the 5th finger" EXACT [] synonym: "Notched outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial duplication of outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial duplication of outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial duplication of outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021350 is_a: HP:0009987 ! Partial duplication of the phalanges of the 5th finger is_a: HP:0009988 ! Duplication of the distal phalanx of the 5th finger is_a: HP:0010004 ! Partial duplication of the distal phalanges of the hand created_by: doelkens creation_date: 2009-05-26T02:24:47Z [Term] id: HP:0009995 name: Partial duplication of the middle phalanx of the 5th finger def: "Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] synonym: "Partial duplication of the middle little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial duplication of the middle pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial duplication of the middle pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024123 is_a: HP:0009987 ! Partial duplication of the phalanges of the 5th finger is_a: HP:0009989 ! Duplication of the middle phalanx of the 5th finger is_a: HP:0010005 ! Partial duplication of the middle phalanges of the hand created_by: doelkens creation_date: 2009-05-26T02:24:47Z [Term] id: HP:0009996 name: Partial duplication of the proximal phalanx of the 5th finger def: "Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] synonym: "Partial duplication of the innermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial duplication of the innermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial duplication of the innermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024122 is_a: HP:0009987 ! Partial duplication of the phalanges of the 5th finger is_a: HP:0009990 ! Duplication of the proximal phalanx of the 5th finger is_a: HP:0010003 ! Partial duplication of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-26T02:24:47Z [Term] id: HP:0009997 name: Duplication of phalanx of hand alt_id: HP:0009143 def: "This term applies if one or more of the phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [HPO:sdoelken] synonym: "Duplication of finger bones" EXACT layperson [] xref: UMLS:C4021349 is_a: HP:0004275 ! Duplication of hand bones is_a: HP:0005918 ! Abnormal finger phalanx morphology created_by: doelkens creation_date: 2009-05-26T02:28:25Z [Term] id: HP:0009998 name: Complete duplication of phalanx of hand def: "A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism." [HPO:curators] synonym: "Complete duplication of hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024121 is_a: HP:0009997 ! Duplication of phalanx of hand created_by: doelkens creation_date: 2009-05-26T02:30:16Z [Term] id: HP:0009999 name: Partial duplication of the phalanx of hand def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators] synonym: "Partial duplication of hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024120 is_a: HP:0009997 ! Duplication of phalanx of hand created_by: doelkens creation_date: 2009-05-26T02:30:35Z [Term] id: HP:0010000 name: Complete duplication of the proximal phalanges of the hand def: "A complete duplication affecting one or more of the proximal phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism." [HPO:curators] synonym: "Complete duplication of the innermost bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024119 is_a: HP:0009998 ! Complete duplication of phalanx of hand is_a: HP:0010006 ! Duplication of the proximal phalanx of hand created_by: doelkens creation_date: 2009-05-26T03:55:02Z [Term] id: HP:0010001 name: Complete duplication of the distal phalanges of the hand def: "A complete duplication affecting one or more of the distal phalanges of the hand." [HPO:sdoelken] comment: As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, is actually a different entity called a pseudoepiphysis (see corresponding terms), sometimes also referred to as hyperphalangism. synonym: "Complete duplication of the outermost bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024118 is_a: HP:0009883 ! Duplication of the distal phalanx of hand is_a: HP:0009998 ! Complete duplication of phalanx of hand created_by: doelkens creation_date: 2009-05-26T03:55:02Z [Term] id: HP:0010002 name: Complete duplication of the middle phalanges of the hand def: "A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism." [HPO:sdoelken] synonym: "Complete duplication of the middle bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024117 is_a: HP:0009998 ! Complete duplication of phalanx of hand is_a: HP:0010008 ! Duplication of the middle phalanx of hand created_by: doelkens creation_date: 2009-05-26T03:55:02Z [Term] id: HP:0010003 name: Partial duplication of the proximal phalanges of the hand def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators] synonym: "Partial duplication of the innermost bones of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024116 is_a: HP:0009999 ! Partial duplication of the phalanx of hand is_a: HP:0010006 ! Duplication of the proximal phalanx of hand created_by: doelkens creation_date: 2009-05-26T03:55:29Z [Term] id: HP:0010004 name: Partial duplication of the distal phalanges of the hand alt_id: HP:0006196 def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators] synonym: "Bifid terminal phalanges of the hand" EXACT [] synonym: "Partial duplication of the outermost bone of the hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021348 is_a: HP:0009883 ! Duplication of the distal phalanx of hand is_a: HP:0009999 ! Partial duplication of the phalanx of hand created_by: doelkens creation_date: 2009-05-26T03:55:29Z [Term] id: HP:0010005 name: Partial duplication of the middle phalanges of the hand def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the middle phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators] synonym: "Partial duplication of the middle bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024115 is_a: HP:0009999 ! Partial duplication of the phalanx of hand is_a: HP:0010008 ! Duplication of the middle phalanx of hand created_by: doelkens creation_date: 2009-05-26T03:55:29Z [Term] id: HP:0010006 name: Duplication of the proximal phalanx of hand def: "This term applies if one or more of the proximal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [HPO:sdoelken] synonym: "Duplication of the innermost bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the proximal phalanges of the hand" EXACT [] xref: UMLS:C4021347 is_a: HP:0009997 ! Duplication of phalanx of hand created_by: doelkens creation_date: 2009-05-26T05:29:46Z [Term] id: HP:0010008 name: Duplication of the middle phalanx of hand def: "This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [HPO:sdoelken] synonym: "Duplication of the middle bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the middle phalanges of the hand" EXACT [] xref: UMLS:C4021346 is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand is_a: HP:0009997 ! Duplication of phalanx of hand created_by: doelkens creation_date: 2009-05-26T05:29:46Z [Term] id: HP:0010009 name: Abnormality of the 1st metacarpal def: "A structural anomaly of the first metacarpal." [HPO:probinson] comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits. synonym: "Abnormality of the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024114 is_a: HP:0001163 ! Abnormality of the metacarpal bones created_by: doelkens creation_date: 2009-05-27T03:35:21Z [Term] id: HP:0010010 name: Abnormality of the 2nd metacarpal def: "Any abnormality of the second metacarpal bone." [HPO:curators] synonym: "Abnormality of the 2nd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024113 is_a: HP:0001163 ! Abnormality of the metacarpal bones created_by: doelkens creation_date: 2009-05-27T03:35:21Z [Term] id: HP:0010011 name: Abnormality of the 3rd metacarpal def: "Any abnormality of the third metacarpal bone." [HPO:curators] synonym: "Abnormality of the 3rd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024112 is_a: HP:0001163 ! Abnormality of the metacarpal bones created_by: doelkens creation_date: 2009-05-27T03:35:21Z [Term] id: HP:0010012 name: Abnormality of the 4th metacarpal def: "Any abnormality of the fourth metacarpal bone." [HPO:curators] synonym: "Abnormality of the 4th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024111 is_a: HP:0001163 ! Abnormality of the metacarpal bones created_by: doelkens creation_date: 2009-05-27T03:35:21Z [Term] id: HP:0010013 name: Abnormality of the 5th metacarpal def: "Any abnormality of the fifth metacarpal bone." [HPO:curators] synonym: "Abnormality of the 5th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024110 is_a: HP:0001163 ! Abnormality of the metacarpal bones created_by: doelkens creation_date: 2009-05-27T03:35:21Z [Term] id: HP:0010014 name: Abnormality of the epiphysis of the 1st metacarpal def: "In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays." [HPO:curators] synonym: "Abnormality of the end part of the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024109 is_a: HP:0005913 ! Abnormality of metacarpal epiphyses is_a: HP:0010009 ! Abnormality of the 1st metacarpal is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-27T03:43:11Z [Term] id: HP:0010015 name: Absent epiphysis of the 1st metacarpal synonym: "Absent end part of the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024108 is_a: HP:0009196 ! Absent metacarpal epiphyses is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal is_a: HP:0010268 ! Absent epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010016 name: Bracket epiphysis of the 1st metacarpal def: "An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate." [HPO:probinson, pmid:24432108] synonym: "Bracket shaped end part of 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024107 is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal is_a: HP:0010269 ! Bracket epiphyses of the proximal phalanges of the hand is_a: HP:0200050 ! Bracket metacarpal epiphyses created_by: doelkens creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010017 name: Cone-shaped epiphysis of the 1st metacarpal def: "A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance." [HPO:probinson] synonym: "Cone-shaped end part of the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024106 is_a: HP:0006059 ! Cone-shaped metacarpal epiphyses is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal is_a: HP:0010270 ! Cone-shaped epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010018 name: Enlarged epiphysis of the 1st metacarpal def: "Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms." [HPO:probinson] synonym: "Enlarged end part of the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024105 is_a: HP:0006134 ! Enlarged metacarpal epiphyses is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal is_a: HP:0010271 ! Enlarged epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010019 name: Fragmentation of the epiphysis of the 1st metacarpal def: "Epiphysis of the 1st metacarpal having multiple bony fragments." [HPO:probinson] synonym: "Fragmentation of the end part of the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024104 is_a: HP:0009189 ! Fragmentation of the metacarpal epiphyses is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal is_a: HP:0010272 ! Fragmentation of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010020 name: Irregular epiphysis of the 1st metacarpal def: "Uneven radiographic opacity of the epiphysis of the 1st metacarpal." [HPO:probinson] synonym: "Irregular end part of the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024103 is_a: HP:0009190 ! Irregular epiphyses of the metacarpals is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal is_a: HP:0010273 ! Irregular epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010021 name: Ivory epiphysis of the 1st metacarpal def: "The epiphysis of the 1st metacarpal are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson] synonym: "Increased bone density of end part of the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024102 is_a: HP:0009191 ! Ivory epiphyses of the metacarpals is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal is_a: HP:0010274 ! Ivory epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010022 name: Pseudoepiphysis of the 1st metacarpal def: "The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal." [HPO:probinson] comment: This feature can be seen for example in Holt-Oram Syndrome. xref: UMLS:C4024101 is_a: HP:0009193 ! Pseudoepiphyses of the metacarpals is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal is_a: HP:0010275 ! Pseudoepiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010023 name: Small epiphysis of the 1st metacarpal def: "Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms." [HPO:probinson] synonym: "Small end part of the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024100 is_a: HP:0009194 ! Small epiphyses of the metacarpals is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal is_a: HP:0010276 ! Small epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010024 name: Epiphyseal stippling of the first metacarpal def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone." [HPO:probinson] synonym: "Speckled calcifications in the end part of the first long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Stippling of the epiphysis of the 1st metacarpal" EXACT [] xref: UMLS:C4021345 is_a: HP:0009195 ! Epiphyseal stippling of the metacarpals is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal is_a: HP:0010277 ! Stippling of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010025 name: Triangular epiphysis of the 1st metacarpal synonym: "Triangular end part of the 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024099 is_a: HP:0009171 ! Triangular epiphyses of the metacarpals is_a: HP:0009696 ! Triangular epiphyses of the thumb is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal created_by: doelkens creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010026 name: Aplasia/Hypoplasia of the 1st metacarpal def: "Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits)." [HPO:curators] synonym: "Absent/small 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024098 is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones is_a: HP:0009658 ! Aplasia/Hypoplasia of the phalanges of the thumb is_a: HP:0010009 ! Abnormality of the 1st metacarpal created_by: doelkens creation_date: 2009-05-27T04:24:30Z [Term] id: HP:0010027 name: Broad 1st metacarpal def: "Increased width of the 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] synonym: "Wide 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024097 is_a: HP:0001230 ! Broad metacarpals is_a: HP:0009852 ! Broad proximal phalanges of the hand is_a: HP:0010009 ! Abnormality of the 1st metacarpal created_by: doelkens creation_date: 2009-05-27T04:24:30Z [Term] id: HP:0010028 name: Bullet-shaped 1st metacarpal def: "The presence of short and wide 1st metacarpal which tapers distally (\"bullet shaped\")." [HPO:probinson] synonym: "Bullet-shaped 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024096 is_a: HP:0010009 ! Abnormality of the 1st metacarpal created_by: doelkens creation_date: 2009-05-27T04:24:30Z [Term] id: HP:0010029 name: Curved 1st metacarpal def: "A deviation from the normal straight shape of the first metacarpal." [HPO:probinson] synonym: "Curved 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024095 is_a: HP:0010009 ! Abnormality of the 1st metacarpal created_by: doelkens creation_date: 2009-05-27T04:24:30Z [Term] id: HP:0010030 name: Osteolytic defects of the 1st metacarpal def: "Dissolution or degeneration of bone tissue of the 1st metacarpal." [HPO:probinson] comment: Osteolytic lesions are visible on radiography as demarcated areas of radiolucency ('darkness'). xref: UMLS:C4024094 is_a: HP:0001504 ! Metacarpal osteolysis is_a: HP:0010009 ! Abnormality of the 1st metacarpal created_by: doelkens creation_date: 2009-05-27T04:24:30Z [Term] id: HP:0010031 name: Patchy sclerosis of the 1st metacarpal def: "Uneven increase in bone density within the 1st metacarpal." [HPO:probinson] synonym: "Uneven increase in bone density in 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024093 is_a: HP:0010009 ! Abnormality of the 1st metacarpal is_a: HP:0100914 ! Sclerosis of the 1st metacarpal created_by: doelkens creation_date: 2009-05-27T04:24:30Z [Term] id: HP:0010033 name: Triangular shaped 1st metacarpal def: "This term applies to a triangular shaped 1st metacarpal." [HPO:probinson] comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx (in this case metacarpal, see explanation above). synonym: "Triangular shaped 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024092 is_a: HP:0010009 ! Abnormality of the 1st metacarpal created_by: doelkens creation_date: 2009-05-27T04:24:30Z [Term] id: HP:0010034 name: Short 1st metacarpal alt_id: HP:0001190 alt_id: HP:0001499 alt_id: HP:0005898 alt_id: HP:0006141 def: "A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand." [HPO:probinson] comment: In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. {xref="HPO:probinson"} subset: hposlim_core synonym: "First metacarpal hypoplasia" EXACT [] synonym: "First metacarpals hypoplastic" EXACT [] synonym: "Hypoplastic 1st metacarpal" EXACT [] synonym: "Short first metacarpal" EXACT [] synonym: "Short first metacarpals" EXACT [] synonym: "Shortened 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1849311 is_a: HP:0009660 ! Short phalanx of the thumb is_a: HP:0010026 ! Aplasia/Hypoplasia of the 1st metacarpal is_a: HP:0010049 ! Short metacarpal created_by: doelkens creation_date: 2009-05-27T04:24:50Z [Term] id: HP:0010035 name: Aplasia of the 1st metacarpal alt_id: HP:0006027 def: "Absent first metacarpal (long bone) of the hand." [HPO:probinson] comment: In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. {xref="HPO:curators"} synonym: "Absent 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent first metacarpal" EXACT [] xref: UMLS:C1838610 is_a: HP:0009659 ! Partial absence of thumb is_a: HP:0010026 ! Aplasia/Hypoplasia of the 1st metacarpal is_a: HP:0010048 ! Aplasia of metacarpal bones is_a: HP:0010242 ! Aplasia of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-27T04:25:14Z [Term] id: HP:0010036 name: Aplasia/Hypoplasia of the 2nd metacarpal def: "Aplasia or Hypoplasia affecting the 2nd metacarpal." [HPO:curators] synonym: "Absent/small 2nd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped 2nd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024091 is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones is_a: HP:0010010 ! Abnormality of the 2nd metacarpal created_by: doelkens creation_date: 2009-05-27T04:34:44Z [Term] id: HP:0010037 name: Aplasia of the 2nd metacarpal def: "Absence of the second long bone of the hand." [HPO:curators] synonym: "Absent 2nd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024090 is_a: HP:0010036 ! Aplasia/Hypoplasia of the 2nd metacarpal is_a: HP:0010048 ! Aplasia of metacarpal bones created_by: doelkens creation_date: 2009-05-27T04:35:04Z [Term] id: HP:0010038 name: Short 2nd metacarpal alt_id: HP:0006231 def: "Short second metacarpal bone because of developmental hypoplasia." [HPO:probinson] synonym: "Hypoplastic 2nd metacarpal" RELATED [] synonym: "Rudimentary 2nd metacarpal" EXACT [] synonym: "Shortened 2nd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1969397 xref: UMLS:C4020774 is_a: HP:0010036 ! Aplasia/Hypoplasia of the 2nd metacarpal is_a: HP:0010049 ! Short metacarpal created_by: doelkens creation_date: 2009-05-27T04:35:04Z [Term] id: HP:0010039 name: Aplasia/Hypoplasia of the 3rd metacarpal def: "Aplasia or Hypoplasia affecting the 3rd metacarpal." [HPO:curators] synonym: "Absent/small 3rd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped 3rd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024089 is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones is_a: HP:0010011 ! Abnormality of the 3rd metacarpal created_by: doelkens creation_date: 2009-05-27T04:35:51Z [Term] id: HP:0010040 name: Aplasia of the 3rd metacarpal def: "Absence of the third long bone of the hand." [HPO:curators] synonym: "Absent 3rd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024088 is_a: HP:0010039 ! Aplasia/Hypoplasia of the 3rd metacarpal is_a: HP:0010048 ! Aplasia of metacarpal bones created_by: doelkens creation_date: 2009-05-27T04:36:08Z [Term] id: HP:0010041 name: Short 3rd metacarpal alt_id: HP:0005624 alt_id: HP:0006074 alt_id: HP:0006120 def: "Short third metacarpal bone." [HPO:probinson] synonym: "Hypoplastic 3rd metacarpal" EXACT [] synonym: "Short third metacarpals" EXACT [] synonym: "Shortened 3rd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Small 3rd metacarpals" EXACT [] xref: UMLS:C1850631 is_a: HP:0010039 ! Aplasia/Hypoplasia of the 3rd metacarpal is_a: HP:0010049 ! Short metacarpal created_by: doelkens creation_date: 2009-05-27T04:36:08Z [Term] id: HP:0010042 name: Aplasia/Hypoplasia of the 4th metacarpal def: "Aplasia or Hypoplasia affecting the 4th metacarpal." [HPO:curators] synonym: "Absent/small 4th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped 4th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024087 is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones is_a: HP:0010012 ! Abnormality of the 4th metacarpal created_by: doelkens creation_date: 2009-05-27T04:36:49Z [Term] id: HP:0010043 name: Aplasia of the 4th metacarpal def: "Absence of the fourth long bone of the hand." [HPO:curator] synonym: "Absent 4th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024086 is_a: HP:0010042 ! Aplasia/Hypoplasia of the 4th metacarpal is_a: HP:0010048 ! Aplasia of metacarpal bones created_by: doelkens creation_date: 2009-05-27T04:37:00Z [Term] id: HP:0010044 name: Short 4th metacarpal alt_id: HP:0005094 def: "Short fourth metacarpal bone." [HPO:probinson] synonym: "Hypoplastic fourth metacarpal" EXACT [] synonym: "Short 4th metacarpals" EXACT [] synonym: "Short fourth metacarpals" EXACT [] synonym: "Shortened 4th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1840309 is_a: HP:0010042 ! Aplasia/Hypoplasia of the 4th metacarpal is_a: HP:0010049 ! Short metacarpal created_by: doelkens creation_date: 2009-05-27T04:37:00Z [Term] id: HP:0010045 name: Aplasia/Hypoplasia of the 5th metacarpal def: "Aplasia or Hypoplasia affecting the 5th metacarpal." [HPO:curators] synonym: "Absent/small 5th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped 5th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024085 is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones is_a: HP:0010013 ! Abnormality of the 5th metacarpal created_by: doelkens creation_date: 2009-05-27T04:37:31Z [Term] id: HP:0010046 name: Aplasia of the 5th metacarpal alt_id: HP:0006103 def: "Absence of the fifth long bone of the hand." [HPO:curators] synonym: "Absent 5th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent 5th metacarpal" EXACT [] xref: UMLS:C1867929 is_a: HP:0010045 ! Aplasia/Hypoplasia of the 5th metacarpal is_a: HP:0010048 ! Aplasia of metacarpal bones created_by: doelkens creation_date: 2009-05-27T04:37:44Z [Term] id: HP:0010047 name: Short 5th metacarpal alt_id: HP:0005737 alt_id: HP:0006004 alt_id: HP:0006222 def: "Short fifth metacarpal bone." [HPO:probinson] synonym: "Fifth metacarpal hypoplasia" EXACT [] synonym: "Hypoplastic 5th metacarpal" EXACT [] synonym: "Short fifth metacarpal" EXACT [] synonym: "Short fifth metacarpals" EXACT [] synonym: "Shortened 5th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1861388 is_a: HP:0010045 ! Aplasia/Hypoplasia of the 5th metacarpal is_a: HP:0010049 ! Short metacarpal created_by: doelkens creation_date: 2009-05-27T04:37:44Z [Term] id: HP:0010048 name: Aplasia of metacarpal bones alt_id: HP:0005911 def: "Developmental defect associated with absence of one or more metacarpal bones." [HPO:probinson] subset: hposlim_core synonym: "Absent long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent metacarpal" EXACT [] synonym: "Absent metacarpals" EXACT [] xref: UMLS:C1846473 is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones created_by: doelkens creation_date: 2009-05-27T04:40:58Z [Term] id: HP:0010049 name: Short metacarpal alt_id: HP:0001164 alt_id: HP:0005695 alt_id: HP:0005717 alt_id: HP:0005909 alt_id: HP:0006047 alt_id: HP:0006183 alt_id: HP:0006186 def: "Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal." [pmid:19125433] comment: Short metacarpals can involve any of the metacarpal bones, and the affected ray should be specified. The assessment of isolated short metacarpal can be made by viewing the dorsum of the hand when clenched. Note that if metacarpals F2-5 are affected, the correct term is Short palm. subset: hposlim_core synonym: "Brachymetacarpalia" EXACT [] synonym: "Hypoplastic metacarpal" EXACT [] synonym: "Metacarpal hypoplasia" EXACT [] synonym: "Short metacarpal bones" RELATED [HPO:skoehler] synonym: "Short metacarpals" EXACT [] synonym: "Shortened long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Shortened metacarpals" EXACT [] synonym: "Shortening of metacarpals" EXACT [] xref: UMLS:C1837084 is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones created_by: doelkens creation_date: 2009-05-27T04:40:58Z [Term] id: HP:0010051 name: Deviation of the hallux alt_id: HP:0004700 def: "Displacement of the big toe from its normal position." [HPO:curators] synonym: "Displacement of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Displacement of the hallux" EXACT [] xref: UMLS:C4021344 is_a: HP:0001844 ! Abnormality of the hallux is_a: HP:0100498 ! Deviation of toes created_by: doelkens creation_date: 2009-05-29T11:36:44Z [Term] id: HP:0010052 name: Abnormal morphology of the proximal phalanx of the hallux def: "An abnormal shape or form of the proximal phalanx of the big toe." [HPO:probinson] comment: In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the big toe is embryologically equivalent to the middle phalanges of the other digits, whereas the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. synonym: "Abnormal innermost big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the proximal phalanx of the hallux" EXACT [] xref: UMLS:C4024084 is_a: HP:0010057 ! Abnormality of the phalanges of the hallux is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes created_by: doelkens creation_date: 2009-05-29T11:47:46Z [Term] id: HP:0010053 name: Abnormality of the distal phalanx of the hallux synonym: "Abnormality of the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024083 is_a: HP:0010057 ! Abnormality of the phalanges of the hallux is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T11:49:11Z [Term] id: HP:0010054 name: Abnormality of the first metatarsal bone def: "An anomaly of the first metatarsal bone." [HPO:probinson] comment: In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the first metatarsal. synonym: "Abnormality of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024082 is_a: HP:0001832 ! Abnormal metatarsal morphology created_by: doelkens creation_date: 2009-05-29T11:49:54Z [Term] id: HP:0010055 name: Broad hallux alt_id: HP:0001834 alt_id: HP:0003094 alt_id: HP:0004710 alt_id: HP:0005883 def: "Visible increase in width of the hallux without an increase in the dorso-ventral dimension." [pmid:19125433] comment: Note that girth may be increased in a broad hallux, but this must be distinguished from Macrodactyly because there the length is also increased. This assessment may be difficult when the hallux is short. subset: hposlim_core synonym: "Abnormally broad great toes" EXACT [] synonym: "Broad big toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Broad great toe" EXACT [] synonym: "Broad great toes" EXACT [] synonym: "Broad halluces" EXACT [HPO:skoehler] synonym: "Wide big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1867131 is_a: HP:0001837 ! Broad toe is_a: HP:0001844 ! Abnormality of the hallux created_by: doelkens creation_date: 2009-05-29T11:56:24Z [Term] id: HP:0010056 name: Abnormality of the epiphyses of the hallux synonym: "Abnormality of the end part of the big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024081 is_a: HP:0001844 ! Abnormality of the hallux is_a: HP:0010160 ! Abnormality of the epiphyses of the toes created_by: doelkens creation_date: 2009-05-29T12:00:08Z [Term] id: HP:0010057 name: Abnormality of the phalanges of the hallux synonym: "Abnormal big toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024080 is_a: HP:0001844 ! Abnormality of the hallux is_a: HP:0010161 ! Abnormality of the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:00:08Z [Term] id: HP:0010058 name: Aplasia/Hypoplasia of the phalanges of the hallux synonym: "Absent/small big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024079 is_a: HP:0008362 ! Aplasia/Hypoplasia of the hallux is_a: HP:0010057 ! Abnormality of the phalanges of the hallux is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:10:46Z [Term] id: HP:0010059 name: Broad hallux phalanx def: "An increase in width in one or more phalanges of the big toe." [HPO:probinson] synonym: "Broad bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Broad phalanges of the hallux" EXACT [] synonym: "Wide bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021343 is_a: HP:0010057 ! Abnormality of the phalanges of the hallux is_a: HP:0010174 ! Broad phalanx of the toes created_by: doelkens creation_date: 2009-05-29T12:10:46Z [Term] id: HP:0010060 name: Bullet-shaped hallux phalanx def: "An abnormal morphology of one or more phalanges of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bullet-shaped phalanges of the hallux" EXACT [] xref: UMLS:C4021342 is_a: HP:0010057 ! Abnormality of the phalanges of the hallux is_a: HP:0010175 ! Bullet-shaped toe phalanx created_by: doelkens creation_date: 2009-05-29T12:10:46Z [Term] id: HP:0010061 name: Curved hallux phalanx def: "A deviation from the normal straight form of one or more phalanges of the big toe." [HPO:probinson] synonym: "Curve bones of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Curved phalanges of the hallux" EXACT [] xref: UMLS:C4021341 is_a: HP:0010057 ! Abnormality of the phalanges of the hallux is_a: HP:0010176 ! Curved toe phalanx created_by: doelkens creation_date: 2009-05-29T12:10:46Z [Term] id: HP:0010062 name: Osteolytic defects of the phalanges of the hallux xref: UMLS:C4024078 is_a: HP:0010057 ! Abnormality of the phalanges of the hallux is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:10:46Z [Term] id: HP:0010063 name: Patchy sclerosis of hallux phalanx def: "Patchy (irregular) increase in bone density of one or more phalanges of the big toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] synonym: "Patchy sclerosis of the phalanges of the hallux" EXACT [] synonym: "Uneven increase in bone density in big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021340 is_a: HP:0010057 ! Abnormality of the phalanges of the hallux is_a: HP:0010178 ! Patchy sclerosis of toe phalanx is_a: HP:0100930 ! Sclerosis of hallux phalanx created_by: doelkens creation_date: 2009-05-29T12:10:46Z [Term] id: HP:0010064 name: Symphalangism affecting the phalanges of the hallux alt_id: HP:0004687 synonym: "Fused big toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "hallucal symphalangism" EXACT [] xref: UMLS:C1836216 is_a: HP:0010057 ! Abnormality of the phalanges of the hallux is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0100235 ! Synostosis involving bones of the toes created_by: doelkens creation_date: 2009-05-29T12:10:46Z [Term] id: HP:0010065 name: Triangular shaped phalanges of the hallux synonym: "Triangular shaped bones of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024077 is_a: HP:0010057 ! Abnormality of the phalanges of the hallux is_a: HP:0010180 ! Triangular shaped phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:10:46Z [Term] id: HP:0010066 name: Duplication of phalanx of hallux alt_id: HP:0001784 alt_id: HP:0005785 alt_id: HP:0005851 def: "Partial or complete duplication of one or more phalanx of big toe." [HPO:probinson] synonym: "Duplicated hallux" EXACT [] synonym: "Duplication of big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of great toes" EXACT layperson [] synonym: "Duplication of phalanx of big toe" EXACT [] synonym: "Hallucal duplication" EXACT [] synonym: "Partial/complete duplication of the phalanges of the hallux" NARROW [] xref: UMLS:C1860164 xref: UMLS:C4020691 is_a: HP:0010057 ! Abnormality of the phalanges of the hallux is_a: HP:0010181 ! Duplication of phalanx of toe created_by: doelkens creation_date: 2009-05-29T12:10:46Z [Term] id: HP:0010067 name: Aplasia/hypoplasia of the 1st metatarsal def: "Absence or underdevelopment of the first metatarsal bone." [HPO:probinson] synonym: "Absent/small 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024076 is_a: HP:0010054 ! Abnormality of the first metatarsal bone created_by: doelkens creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010068 name: Broad first metatarsal alt_id: HP:0004709 alt_id: HP:0008085 alt_id: HP:0008139 def: "Increased side-to-side width of the first metatarsal bone." [HPO:probinson] synonym: "Broad 1st metatarsal" EXACT [] synonym: "Enlarged first metatarsal" EXACT [] synonym: "Wide 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1855899 is_a: HP:0001783 ! Broad metatarsal is_a: HP:0010054 ! Abnormality of the first metatarsal bone created_by: doelkens creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010069 name: Bullet-shaped 1st metatarsal def: "An abnormal morphology of the firstmetatarsal bone, which is short and wide and tapers distally, and lacks the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024075 is_a: HP:0010054 ! Abnormality of the first metatarsal bone created_by: doelkens creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010070 name: Curved 1st metatarsal def: "A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone." [HPO:probinson] synonym: "Curved 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024074 is_a: HP:0010054 ! Abnormality of the first metatarsal bone created_by: doelkens creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010071 name: Osteolytic defects of the 1st metatarsal def: "Dissolution or degeneration of bone tissue of the first metatarsal." [HPO:probinson] xref: UMLS:C4024073 is_a: HP:0001473 ! Metatarsal osteolysis is_a: HP:0010054 ! Abnormality of the first metatarsal bone is_a: HP:0010062 ! Osteolytic defects of the phalanges of the hallux created_by: doelkens creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010072 name: Patchy sclerosis of the 1st metatarsal synonym: "Uneven increase in bone density of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024072 is_a: HP:0010054 ! Abnormality of the first metatarsal bone is_a: HP:0010063 ! Patchy sclerosis of hallux phalanx is_a: HP:0010208 ! Patchy sclerosis of proximal toe phalanx is_a: HP:0100945 ! Sclerosis of the 1st metatarsal created_by: doelkens creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010073 name: Synostosis involving the 1st metatarsal synonym: "Fusion involving the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024071 is_a: HP:0010054 ! Abnormality of the first metatarsal bone created_by: doelkens creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010074 name: Triangular shaped 1st metatarsal synonym: "Triangular shaped 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024070 is_a: HP:0010054 ! Abnormality of the first metatarsal bone is_a: HP:0010065 ! Triangular shaped phalanges of the hallux created_by: doelkens creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010075 name: Duplication of the 1st metatarsal def: "A developmental defect consisting in the duplication of the first metatarsal bone." [HPO:probinson] synonym: "Duplicated 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplicated first metatarsals" EXACT [] xref: UMLS:C1851855 is_a: HP:0001449 ! Duplication of metatarsal bones is_a: HP:0010054 ! Abnormality of the first metatarsal bone created_by: doelkens creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010076 name: Aplasia/Hypoplasia of the distal phalanx of the hallux synonym: "Absent/small outermost big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped outermost big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024069 is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0010058 ! Aplasia/Hypoplasia of the phalanges of the hallux is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010077 name: Broad distal phalanx of the hallux def: "An increase in width of the distal phalanx of the big toe." [HPO:probinson] synonym: "Broad outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024068 is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0010059 ! Broad hallux phalanx is_a: HP:0010186 ! Broad distal phalanx of the toes created_by: doelkens creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010078 name: Bullet-shaped distal phalanx of the hallux def: "An abnormal morphology of the distal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024067 is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0010060 ! Bullet-shaped hallux phalanx is_a: HP:0010187 ! Bullet-shaped distal toe phalanx created_by: doelkens creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010079 name: Curved distal phalanx of the hallux def: "A deviation from the normal straight form of the distal phalanx of the big toe." [HPO:probinson] synonym: "Curved outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024066 is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0010061 ! Curved hallux phalanx is_a: HP:0010188 ! Curved distal toe phalanx created_by: doelkens creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010080 name: Osteolytic defects of the distal phalanx of the hallux xref: UMLS:C4024065 is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0010062 ! Osteolytic defects of the phalanges of the hallux is_a: HP:0010189 ! Osteolytic defects of the distal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010081 name: Patchy sclerosis of the distal phalanx of the hallux synonym: "Uneven increase in bone density in the outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024064 is_a: HP:0010063 ! Patchy sclerosis of hallux phalanx is_a: HP:0010190 ! Patchy sclerosis of distal toe phalanx is_a: HP:0100944 ! Sclerosis of the distal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010082 name: Symphalangism affecting the distal phalanx of the hallux synonym: "Fused outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024063 is_a: HP:0001859 ! Distal foot symphalangism is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0010091 ! Symphalangism affecting the proximal phalanx of the hallux is_a: HP:0010191 ! Symphalangism affecting the distal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010083 name: Triangular shaped distal phalanx of the hallux synonym: "Triangular shaped outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024062 is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0010065 ! Triangular shaped phalanges of the hallux is_a: HP:0010192 ! Triangular shaped distal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010084 name: Duplication of the distal phalanx of the hallux synonym: "Duplication of the outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the distal phalanx of the hallux" EXACT [] xref: UMLS:C4021339 is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0010066 ! Duplication of phalanx of hallux is_a: HP:0010193 ! Duplication of distal phalanx of toe created_by: doelkens creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010085 name: Aplasia/Hypoplasia of the proximal phalanx of the hallux synonym: "Absent/small innermost big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped innermost big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024061 is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux is_a: HP:0010058 ! Aplasia/Hypoplasia of the phalanges of the hallux is_a: HP:0010194 ! Aplasia/Hypoplasia of the middle phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010086 name: Broad proximal phalanx of the hallux def: "Increased width of proximal phalanx of big toe." [HPO:probinson] synonym: "Broad innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Broad proximal phalanx of the big toe" EXACT [] xref: UMLS:C4021338 is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux is_a: HP:0010059 ! Broad hallux phalanx is_a: HP:0010204 ! Broad proximal phalanx of toe created_by: doelkens creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010087 name: Bullet-shaped proximal phalanx of the hallux def: "An abnormal morphology of the proximal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024060 is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux is_a: HP:0010060 ! Bullet-shaped hallux phalanx is_a: HP:0010205 ! Bullet-shaped proximal toe phalanx created_by: doelkens creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010088 name: Curved proximal phalanx of the hallux def: "A deviation from the normal straight form of the proximal phalanx of the big toe." [HPO:probinson] synonym: "Curved innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024059 is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux is_a: HP:0010061 ! Curved hallux phalanx is_a: HP:0010206 ! Curved proximal toe phalanx created_by: doelkens creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010089 name: Osteolytic defects of the proximal phalanx of the hallux xref: UMLS:C4024058 is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux is_a: HP:0010062 ! Osteolytic defects of the phalanges of the hallux is_a: HP:0010198 ! Osteolytic defects of the middle phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010090 name: Patchy sclerosis of the proximal phalanx of the hallux synonym: "Uneven increase in bone density in the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024057 is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux is_a: HP:0010063 ! Patchy sclerosis of hallux phalanx is_a: HP:0010199 ! Patchy sclerosis of middle toe phalanx is_a: HP:0100943 ! Sclerosis of the proximal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010091 name: Symphalangism affecting the proximal phalanx of the hallux synonym: "Fused innermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024056 is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux is_a: HP:0010064 ! Symphalangism affecting the phalanges of the hallux is_a: HP:0010200 ! Symphalangism affecting the middle phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010092 name: Triangular shaped proximal phalanx of the hallux synonym: "Triangular shaped innermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024055 is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux is_a: HP:0010065 ! Triangular shaped phalanges of the hallux is_a: HP:0010201 ! Triangular shaped middle phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010093 name: Duplication of the proximal phalanx of the hallux def: "Partial or complete duplication of the proximal phalanx of big toe." [HPO:sdoelken] synonym: "Duplication of the innermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024054 is_a: HP:0010052 ! Abnormal morphology of the proximal phalanx of the hallux is_a: HP:0010066 ! Duplication of phalanx of hallux is_a: HP:0010202 ! Duplication of middle phalanx of toe created_by: doelkens creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010094 name: Complete duplication of the proximal phalanx of the hallux def: "Complete duplication of the proximal phalanx of big toe." [HPO:sdoelken] synonym: "Complete duplication of the innermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024053 is_a: HP:0010093 ! Duplication of the proximal phalanx of the hallux is_a: HP:0010100 ! Complete duplication of hallux phalanx created_by: doelkens creation_date: 2009-05-29T12:18:59Z [Term] id: HP:0010095 name: Partial duplication of the proximal phalanx of the hallux def: "Partial duplication of the proximal phalanx of big toe." [HPO:sdoelken] synonym: "Partial duplication of the innermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024052 is_a: HP:0010093 ! Duplication of the proximal phalanx of the hallux is_a: HP:0010101 ! Partial duplication of the phalanges of the hallux created_by: doelkens creation_date: 2009-05-29T12:18:59Z [Term] id: HP:0010096 name: Complete duplication of the distal phalanx of the hallux synonym: "Complete duplication of the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024051 is_a: HP:0010084 ! Duplication of the distal phalanx of the hallux is_a: HP:0010100 ! Complete duplication of hallux phalanx created_by: doelkens creation_date: 2009-05-29T12:19:30Z [Term] id: HP:0010097 name: Partial duplication of the distal phalanx of the hallux alt_id: HP:0008091 synonym: "Bifid distal phalanx of hallux" EXACT [] synonym: "Notched outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial duplication of the outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021337 is_a: HP:0010084 ! Duplication of the distal phalanx of the hallux is_a: HP:0010101 ! Partial duplication of the phalanges of the hallux created_by: doelkens creation_date: 2009-05-29T12:19:30Z [Term] id: HP:0010098 name: Complete duplication of the 1st metatarsal alt_id: HP:0008121 def: "A developmental defect consisting in the complete duplication of the first metatarsal bone." [HPO:probinson] synonym: "Complete duplication of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024050 is_a: HP:0010075 ! Duplication of the 1st metatarsal created_by: doelkens creation_date: 2009-05-29T12:20:12Z [Term] id: HP:0010099 name: Partial duplication of the 1st metatarsal def: "A developmental defect consisting in the duplication of part of the first metatarsal bone." [HPO:probinson] synonym: "Partial duplication of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024049 is_a: HP:0010075 ! Duplication of the 1st metatarsal is_a: HP:0010101 ! Partial duplication of the phalanges of the hallux created_by: doelkens creation_date: 2009-05-29T12:20:12Z [Term] id: HP:0010100 name: Complete duplication of hallux phalanx def: "Complete duplication of one or more phalanx of big toe." [HPO:probinson] synonym: "Complete duplication of big toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Complete duplication of the phalanges of the hallux" EXACT [] xref: UMLS:C4021336 is_a: HP:0010066 ! Duplication of phalanx of hallux created_by: doelkens creation_date: 2009-05-29T12:22:12Z [Term] id: HP:0010101 name: Partial duplication of the phalanges of the hallux alt_id: HP:0004678 synonym: "Partial duplication of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "partial duplication of hallux" EXACT [] xref: UMLS:C1855005 is_a: HP:0010066 ! Duplication of phalanx of hallux created_by: doelkens creation_date: 2009-05-29T12:22:12Z [Term] id: HP:0010102 name: Aplasia of the distal phalanx of the hallux synonym: "Absent outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024048 is_a: HP:0010076 ! Aplasia/Hypoplasia of the distal phalanx of the hallux is_a: HP:0010110 ! Aplasia of the phalanges of the hallux is_a: HP:0010645 ! Aplasia of the distal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:41:37Z [Term] id: HP:0010103 name: Short distal phalanx of hallux def: "Underdevelopment (hypoplasia) of the distal phalanx of big toe." [HPO:probinson] synonym: "Hypoplastic/small distal phalanx of the hallux" EXACT [] synonym: "Small distal phalanx of big toe" EXACT [] synonym: "Small distal phalanx of hallux" EXACT [] synonym: "Small outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021335 is_a: HP:0010076 ! Aplasia/Hypoplasia of the distal phalanx of the hallux is_a: HP:0010111 ! Short phalanx of hallux created_by: doelkens creation_date: 2009-05-29T12:41:37Z [Term] id: HP:0010104 name: Absent first metatarsal alt_id: HP:0006124 def: "A developmental defect characterized by the absence of the first metatarsal bone." [HPO:probinson] synonym: "Absent 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent 1st metatarsal" EXACT [] synonym: "Aplasia of the 1st metatarsal" EXACT [] xref: UMLS:C1863382 is_a: HP:0010067 ! Aplasia/hypoplasia of the 1st metatarsal is_a: HP:0010744 ! Absent metatarsal bone created_by: doelkens creation_date: 2009-05-29T12:42:09Z [Term] id: HP:0010105 name: Short first metatarsal alt_id: HP:0004680 def: "Short first metatarsal bone." [HPO:probinson] synonym: "First metatarsal hypoplasia" EXACT [] synonym: "First metatarsals hypoplastic" EXACT [] synonym: "Short 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1841688 is_a: HP:0010054 ! Abnormality of the first metatarsal bone is_a: HP:0010743 ! Short metatarsal created_by: doelkens creation_date: 2009-05-29T12:42:09Z [Term] id: HP:0010106 name: Aplasia of the proximal phalanx of the hallux synonym: "Absent innermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024047 is_a: HP:0010085 ! Aplasia/Hypoplasia of the proximal phalanx of the hallux is_a: HP:0010110 ! Aplasia of the phalanges of the hallux is_a: HP:0100388 ! Aplasia of the proximal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:43:40Z [Term] id: HP:0010107 name: Short proximal phalanx of hallux alt_id: HP:0008101 alt_id: HP:0008129 def: "Underdevelopment (hypoplasia) of the proximal phalanx of big toe." [HPO:probinson] synonym: "Hypoplastic proximal phalanx of the hallux" EXACT [] synonym: "Short innermost big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short proximal phalanges of halluces" EXACT [] synonym: "Short proximal phalanx of halluces" EXACT [] synonym: "Small proximal phalanx of big toe" EXACT [] synonym: "Small proximal phalanx of hallux" EXACT [] xref: UMLS:C1862159 is_a: HP:0010085 ! Aplasia/Hypoplasia of the proximal phalanx of the hallux is_a: HP:0010111 ! Short phalanx of hallux created_by: doelkens creation_date: 2009-05-29T12:43:40Z [Term] id: HP:0010109 name: Short hallux alt_id: HP:0001843 alt_id: HP:0001861 alt_id: HP:0005610 alt_id: HP:0008105 def: "Underdevelopment (hypoplasia) of the big toe." [HPO:probinson] synonym: "Hypoplastic big toes" EXACT [] synonym: "Hypoplastic hallux" EXACT [] synonym: "Short big toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short halluces" EXACT [] synonym: "Small hallux" EXACT [] xref: UMLS:C1865992 is_a: HP:0001831 ! Short toe is_a: HP:0008362 ! Aplasia/Hypoplasia of the hallux created_by: doelkens creation_date: 2009-05-29T12:46:14Z [Term] id: HP:0010110 name: Aplasia of the phalanges of the hallux synonym: "Absent bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024046 is_a: HP:0010058 ! Aplasia/Hypoplasia of the phalanges of the hallux is_a: HP:0010745 ! Aplasia of the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:49:19Z [Term] id: HP:0010111 name: Short phalanx of hallux def: "Underdevelopment (hypoplasia) of a phalanx of big toe." [HPO:probinson] synonym: "Hypoplastic phalanges of the hallux" EXACT layperson [] synonym: "Short bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021334 is_a: HP:0010058 ! Aplasia/Hypoplasia of the phalanges of the hallux is_a: HP:0010109 ! Short hallux is_a: HP:0010746 ! Hypoplasia of the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:49:19Z [Term] id: HP:0010112 name: Mesoaxial foot polydactyly def: "The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly." [HPO:probinson] subset: hposlim_core synonym: "Central polydactyly of feet" EXACT layperson [] xref: UMLS:C4021333 is_a: HP:0001829 ! Foot polydactyly is_a: HP:0100260 ! Mesoaxial polydactyly created_by: doelkens creation_date: 2009-05-29T01:11:06Z [Term] id: HP:0010113 name: Absent hallux epiphysis def: "Failure to form (agenesis) of one or more epiphyses of the big toe." [HPO:probinson] synonym: "Absent end part of big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent epiphyses of the hallux" EXACT [] xref: UMLS:C4020906 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010162 ! Absent epiphyses of the toes created_by: doelkens creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010114 name: Bracket epiphyses of the hallux synonym: "Bracket shaped end part of big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024045 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010163 ! Bracket epiphyses of the toes created_by: doelkens creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010115 name: Cone-shaped epiphyses of the hallux synonym: "Cone-shaped end part of the big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024044 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010164 ! Cone-shaped epiphyses of the toes created_by: doelkens creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010116 name: Enlarged epiphyses of the hallux synonym: "Enlarged end part of the big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024043 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010165 ! Enlarged epiphyses of the toes created_by: doelkens creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010117 name: Fragmentation of the epiphyses of the hallux synonym: "Fragmentation of the end part of the big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024042 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010166 ! Fragmentation of the epiphyses of the toes created_by: doelkens creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010118 name: Irregular epiphyses of the hallux synonym: "Irregular end part of big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024041 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010167 ! Irregular epiphyses of the toes created_by: doelkens creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010119 name: Ivory epiphyses of the hallux synonym: "Increased bone density of end part of the big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024040 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010168 ! Ivory epiphyses of the toes created_by: doelkens creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010120 name: Pseudoepiphyses of the hallux xref: UMLS:C4024039 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010169 ! Pseudoepiphyses of the toes created_by: doelkens creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010121 name: Small epiphyses of the hallux synonym: "Small end part of the big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024038 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010170 ! Small epiphyses of the toes created_by: doelkens creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010122 name: Stippling of the epiphyses of the hallux def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the hallux." [HPO:curators] synonym: "Speckled calcifications in the end part of the big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024037 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010171 ! Epiphyseal stippling of toe phalanges created_by: doelkens creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010123 name: Triangular epiphyses of the hallux synonym: "Triangular end part of the big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024036 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010172 ! Triangular epiphyses of the toes created_by: doelkens creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010124 name: Abnormality of the epiphysis of the distal phalanx of the hallux synonym: "Abnormality of the end part of the outermost bone of the big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024035 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux created_by: doelkens creation_date: 2009-05-29T01:17:54Z [Term] id: HP:0010125 name: Abnormality of the epiphysis of the 1st metatarsal def: "In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the epiphysis of the first metatarsal bone." [HPO:curators] synonym: "Abnormality of the end part of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024034 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux created_by: doelkens creation_date: 2009-05-29T01:17:54Z [Term] id: HP:0010126 name: Abnormality of the epiphysis of the proximal phalanx of the hallux def: "In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux." [HPO:curators] synonym: "Abnormality of the end part of the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024033 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux created_by: doelkens creation_date: 2009-05-29T01:17:54Z [Term] id: HP:0010127 name: Absent epiphysis of the proximal phalanx of the hallux def: "Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux." [HPO:probinson] synonym: "Absent end part of the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024032 is_a: HP:0010113 ! Absent hallux epiphysis is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010128 name: Bracket epiphysis of the proximal phalanx of the hallux def: "The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form." [HPO:probinson] synonym: "Bracket shaped end part of the innermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024031 is_a: HP:0010114 ! Bracket epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010129 name: Cone-shaped epiphysis of the proximal phalanx of the hallux synonym: "Cone-shaped end part of the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024030 is_a: HP:0010115 ! Cone-shaped epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010130 name: Enlarged epiphysis of the proximal phalanx of the hallux synonym: "Enlarged end part of the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024029 is_a: HP:0010116 ! Enlarged epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010131 name: Fragmentation of the epiphysis of the proximal phalanx of the hallux synonym: "Fragmentation of the end part of the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024028 is_a: HP:0010117 ! Fragmentation of the epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010132 name: Irregular epiphysis of the proximal phalanx of the hallux synonym: "Irregular end part of the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024027 is_a: HP:0010118 ! Irregular epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010133 name: Ivory epiphysis of the proximal phalanx of the hallux synonym: "Increased bone density of end part of the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024026 is_a: HP:0010119 ! Ivory epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010134 name: Pseudoepiphysis of the proximal phalanx of the hallux xref: UMLS:C4024025 is_a: HP:0010120 ! Pseudoepiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010135 name: Small epiphysis of the proximal phalanx of the hallux synonym: "Small end part of the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024024 is_a: HP:0010121 ! Small epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010136 name: Stippling of the epiphysis of the proximal phalanx of the hallux def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the hallux." [HPO:curators] synonym: "Speckled calcifications in the end part of the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024023 is_a: HP:0010122 ! Stippling of the epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010137 name: Triangular epiphysis of the proximal phalanx of the hallux synonym: "Triangular end part of the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024022 is_a: HP:0010123 ! Triangular epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010138 name: Absent epiphysis of the distal phalanx of the hallux def: "Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux." [HPO:probinson] synonym: "Absent end part of the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024021 is_a: HP:0010113 ! Absent hallux epiphysis is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010139 name: Bracket epiphysis of the distal phalanx of the hallux def: "The epiphysis of the distal phalanx of the hallux surrounds the diaphysis, having a bracket-like form." [HPO:probinson] synonym: "Bracket shaped end part of the outermost bone of big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024020 is_a: HP:0010114 ! Bracket epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010140 name: Cone-shaped epiphysis of the distal phalanx of the hallux synonym: "Cone-shaped end part of the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024019 is_a: HP:0010115 ! Cone-shaped epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010141 name: Enlarged epiphysis of the distal phalanx of the hallux synonym: "Enlarged end part of the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024018 is_a: HP:0010116 ! Enlarged epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010142 name: Fragmentation of the epiphysis of the distal phalanx of the hallux synonym: "Fragmentation of the end part of the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024017 is_a: HP:0010117 ! Fragmentation of the epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010143 name: Irregular epiphysis of the distal phalanx of the hallux synonym: "Irregular end part of the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024016 is_a: HP:0010118 ! Irregular epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010144 name: Ivory epiphysis of the distal phalanx of the hallux synonym: "Increased bone density of end part of the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024015 is_a: HP:0010119 ! Ivory epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010145 name: Pseudoepiphysis of the distal phalanx of the hallux xref: UMLS:C4024014 is_a: HP:0010120 ! Pseudoepiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010146 name: Small epiphysis of the distal phalanx of the hallux synonym: "Small end part of the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024013 is_a: HP:0010121 ! Small epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010147 name: Stippling of the epiphysis of the distal phalanx of the hallux def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the hallux." [HPO:curators] synonym: "Speckled calcifications in the end part of the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024012 is_a: HP:0010122 ! Stippling of the epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010148 name: Triangular epiphysis of the distal phalanx of the hallux synonym: "Triangular end part of the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024011 is_a: HP:0010123 ! Triangular epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010149 name: Absent epiphysis of the 1st metatarsal def: "Failure to form (agenesis) of the epiphysis of the 1st metatarsal." [HPO:probinson] synonym: "Absent end part of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024010 is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal created_by: doelkens creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010150 name: Bracket epiphysis of the 1st metatarsal def: "The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form." [HPO:probinson] synonym: "Bracket shaped end part of 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024009 is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal created_by: doelkens creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010151 name: Cone-shaped epiphysis of the 1st metatarsal def: "A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot." [HPO:curators] synonym: "Cone-shaped end part of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024008 is_a: HP:0010054 ! Abnormality of the first metatarsal bone is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal is_a: HP:0010630 ! Abnormality of metatarsal epiphysis created_by: doelkens creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010152 name: Enlarged epiphysis of the 1st metatarsal synonym: "Enlarged end part of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024007 is_a: HP:0010116 ! Enlarged epiphyses of the hallux is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal created_by: doelkens creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010153 name: Fragmentation of the epiphysis of the 1st metatarsal synonym: "Fragmentation of the end part of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024006 is_a: HP:0010117 ! Fragmentation of the epiphyses of the hallux is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal created_by: doelkens creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010154 name: Irregular epiphysis of the 1st metatarsal synonym: "Irregular end part of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024005 is_a: HP:0010118 ! Irregular epiphyses of the hallux is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal created_by: doelkens creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010155 name: Ivory epiphysis of the 1st metatarsal def: "The epiphysis of the 1st metatarsal are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson] synonym: "Increased bone density of end part of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024004 is_a: HP:0010119 ! Ivory epiphyses of the hallux is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal created_by: doelkens creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010156 name: Pseudoepiphysis of the 1st metatarsal xref: UMLS:C4024003 is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal created_by: doelkens creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010157 name: Small epiphysis of the 1st metatarsal synonym: "Small end part of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024002 is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal created_by: doelkens creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010158 name: Stippling of the epiphysis of the 1st metatarsal synonym: "Speckled calcifications in the end part of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024001 is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal created_by: doelkens creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010159 name: Triangular epiphysis of the 1st metatarsal synonym: "Triangular end part of the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4024000 is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal created_by: doelkens creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010160 name: Abnormality of the epiphyses of the toes synonym: "Abnormality of the end part of the toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023999 is_a: HP:0001780 ! Abnormality of toe is_a: HP:0010631 ! Abnormality of the epiphyses of the feet created_by: doelkens creation_date: 2009-05-29T01:30:42Z [Term] id: HP:0010161 name: Abnormality of the phalanges of the toes synonym: "Abnormality of the long bones of the toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023998 is_a: HP:0001780 ! Abnormality of toe created_by: doelkens creation_date: 2009-05-29T01:31:17Z [Term] id: HP:0010162 name: Absent epiphyses of the toes def: "Absence of the epiphyses of the phalanges of the toes." [HPO:sdoelken] synonym: "Absent end part of the toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023997 is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010577 ! Absent epiphyses created_by: doelkens creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010163 name: Bracket epiphyses of the toes synonym: "Bracket shaped end part of the toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023996 is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010578 ! Bracket epiphyses created_by: doelkens creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010164 name: Cone-shaped epiphyses of the toes synonym: "Cone-shaped end part of the toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023995 is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010579 ! Cone-shaped epiphysis created_by: doelkens creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010165 name: Enlarged epiphyses of the toes synonym: "Enlarged end part of the toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023994 is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010580 ! Enlarged epiphyses created_by: doelkens creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010166 name: Fragmentation of the epiphyses of the toes synonym: "Fragmentation of the end part of the toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023993 is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0100168 ! Fragmented epiphyses created_by: doelkens creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010167 name: Irregular epiphyses of the toes synonym: "Irregular end part of the toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023992 is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010582 ! Irregular epiphyses created_by: doelkens creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010168 name: Ivory epiphyses of the toes synonym: "Increased bone density of end part of the toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023991 is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010583 ! Ivory epiphyses created_by: doelkens creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010169 name: Pseudoepiphyses of the toes xref: UMLS:C4023990 is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010584 ! Pseudoepiphyses created_by: doelkens creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010170 name: Small epiphyses of the toes synonym: "Small end part of the toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023989 is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010585 ! Small epiphyses created_by: doelkens creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010171 name: Epiphyseal stippling of toe phalanges def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the toes." [HPO:probinson] synonym: "Speckled calcifications in long toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Stippling of the epiphyses of the toes" EXACT [] xref: UMLS:C4021332 is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010655 ! Epiphyseal stippling created_by: doelkens creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010172 name: Triangular epiphyses of the toes synonym: "Triangular end part of the toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023988 is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010587 ! Triangular epiphyses created_by: doelkens creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010173 name: Aplasia/Hypoplasia of the phalanges of the toes synonym: "Absent/small toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023987 is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet is_a: HP:0010161 ! Abnormality of the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:39:26Z [Term] id: HP:0010174 name: Broad phalanx of the toes def: "Increased width of phalanx of one or more toes." [HPO:probinson] synonym: "Wide toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023986 is_a: HP:0006009 ! Broad phalanx is_a: HP:0010161 ! Abnormality of the phalanges of the toes is_a: HP:0040066 ! Abnormal morphology of bones of the lower limbs created_by: doelkens creation_date: 2009-05-29T01:39:26Z [Term] id: HP:0010175 name: Bullet-shaped toe phalanx def: "An abnormal morphology of one or more phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped phalanges of the toes" EXACT layperson [] synonym: "Bullet-shaped toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021331 is_a: HP:0010161 ! Abnormality of the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:39:26Z [Term] id: HP:0010176 name: Curved toe phalanx def: "A deviation from the normal straight form of one or more toe phalanges." [HPO:probinson] synonym: "Curved phalanges of the toes" EXACT [] synonym: "Curved toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021330 is_a: HP:0010161 ! Abnormality of the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:39:26Z [Term] id: HP:0010177 name: Osteolytic defects of the phalanges of the toes xref: UMLS:C4023985 is_a: HP:0009134 ! Osteolysis involving bones of the feet is_a: HP:0010161 ! Abnormality of the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:39:26Z [Term] id: HP:0010178 name: Patchy sclerosis of toe phalanx def: "Uneven (irregular) increase in bone density of one or more of the phalanges of the foot." [HPO:probinson] synonym: "Patchy sclerosis of the phalanges of the toes" EXACT [] synonym: "Uneven increase in bone density in toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021329 is_a: HP:0005686 ! Patchy osteosclerosis is_a: HP:0100924 ! Sclerosis of toe phalanx created_by: doelkens creation_date: 2009-05-29T01:39:26Z [Term] id: HP:0010179 name: Symphalangism affecting the phalanges of the toes synonym: "Fused toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023984 is_a: HP:0010161 ! Abnormality of the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:39:26Z [Term] id: HP:0010180 name: Triangular shaped phalanges of the toes synonym: "Triangular shaped toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023983 is_a: HP:0010161 ! Abnormality of the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:39:26Z [Term] id: HP:0010181 name: Duplication of phalanx of toe def: "Partial/complete duplication of one or more phalanx of toe." [HPO:probinson] synonym: "Duplicated toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the phalanges of the toes" EXACT [] xref: UMLS:C4021328 is_a: HP:0010161 ! Abnormality of the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:39:26Z [Term] id: HP:0010182 name: Abnormality of the distal phalanges of the toes synonym: "Abnormality of the outermost bone of the toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023982 is_a: HP:0010161 ! Abnormality of the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:51:38Z [Term] id: HP:0010183 name: Abnormality of the middle phalanges of the toes synonym: "Abnormal middle bones of toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023981 is_a: HP:0010161 ! Abnormality of the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:51:38Z [Term] id: HP:0010184 name: Abnormality of toe proximal phalanx def: "A morphological anomaly of one or more proximal phalanges of one or more toes." [HPO:probinson] synonym: "Abnormal innermost toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the proximal phalanges of the toes" EXACT [] xref: UMLS:C4021327 is_a: HP:0010161 ! Abnormality of the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:51:38Z [Term] id: HP:0010185 name: Aplasia/Hypoplasia of the distal phalanges of the toes alt_id: HP:0005735 alt_id: HP:0005818 def: "Absence or underdevelopment of the distal phalanges of the toes." [HPO:probinson] synonym: "Absent/hypoplastic terminal phalanges of toes" EXACT [] synonym: "Absent/small outermost bones of toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped outermost bones of toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hypoplasia/agenesis of distal phalanges of toes" RELATED [] xref: UMLS:C4020773 xref: UMLS:C4021326 is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes is_a: HP:0010760 ! Absent toe created_by: doelkens creation_date: 2009-05-29T01:52:41Z [Term] id: HP:0010186 name: Broad distal phalanx of the toes def: "Increased width of the distal phalanx of toe of one or more toes." [HPO:probinson] synonym: "Broad outermost bone of the toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide outermost bone of the toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023980 is_a: HP:0010174 ! Broad phalanx of the toes is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:52:41Z [Term] id: HP:0010187 name: Bullet-shaped distal toe phalanx def: "An abnormal morphology of one or more distal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped distal phalanges of the toes" EXACT [] synonym: "Bullet-shaped outermost bone of the toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021325 is_a: HP:0010175 ! Bullet-shaped toe phalanx is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:52:41Z [Term] id: HP:0010188 name: Curved distal toe phalanx def: "A deviation from the normal straight form of one or more distal toe phalanges." [HPO:probinson] synonym: "Curved distal phalanges of the toes" EXACT [] synonym: "Curved outermost bone of the toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021324 is_a: HP:0010176 ! Curved toe phalanx is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:52:41Z [Term] id: HP:0010189 name: Osteolytic defects of the distal phalanges of the toes xref: UMLS:C4023979 is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:52:41Z [Term] id: HP:0010190 name: Patchy sclerosis of distal toe phalanx def: "Patchy (irregular) increase in bone density of one or more of the distal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] synonym: "Patchy sclerosis of the distal phalanges of the toes" EXACT [] synonym: "Uneven increase in bone density in outermost toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021323 is_a: HP:0010178 ! Patchy sclerosis of toe phalanx is_a: HP:0100948 ! Sclerosis of distal toe phalanx created_by: doelkens creation_date: 2009-05-29T01:52:41Z [Term] id: HP:0010191 name: Symphalangism affecting the distal phalanges of the toes synonym: "Fused outermost bones of toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023978 is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:52:41Z [Term] id: HP:0010192 name: Triangular shaped distal phalanges of the toes synonym: "Triangular shaped outermost bone of the toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023977 is_a: HP:0010180 ! Triangular shaped phalanges of the toes is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:52:41Z [Term] id: HP:0010193 name: Duplication of distal phalanx of toe def: "A partial or complete duplication of one or more distal phalanx of toe." [HPO:sdoelken] synonym: "Duplication of outermost bone of toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the distal phalanges of the toes" EXACT [] xref: UMLS:C4021322 is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:52:41Z [Term] id: HP:0010194 name: Aplasia/Hypoplasia of the middle phalanges of the toes synonym: "Absent/small middle bones of toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped middle bones of toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023976 is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:53:35Z [Term] id: HP:0010195 name: Broad middle phalanges of the toes synonym: "Broad middle bones of the toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023975 is_a: HP:0010174 ! Broad phalanx of the toes is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:53:35Z [Term] id: HP:0010196 name: Bullet-shaped middle toe phalanx def: "An abnormal morphology of one or more middle phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped middle bones of the toes" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bullet-shaped middle phalanges of the toes" EXACT [] xref: UMLS:C4021321 is_a: HP:0010175 ! Bullet-shaped toe phalanx is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:53:35Z [Term] id: HP:0010197 name: Curved middle toe phalanx def: "A deviation from the normal straight form of one or more middle toe phalanges." [HPO:probinson] synonym: "Curved middle bones of the toes" EXACT [ORCID:0000-0001-5208-3432] synonym: "Curved middle phalanges of the toes" EXACT [] xref: UMLS:C4021320 is_a: HP:0010176 ! Curved toe phalanx is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:53:35Z [Term] id: HP:0010198 name: Osteolytic defects of the middle phalanges of the toes xref: UMLS:C4023974 is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:53:35Z [Term] id: HP:0010199 name: Patchy sclerosis of middle toe phalanx def: "Patchy (irregular) increase in bone density of one or more of the middle phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] synonym: "Patchy sclerosis of the middle phalanges of the toes" EXACT [] synonym: "Uneven increase in bone density in middle toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021319 is_a: HP:0010178 ! Patchy sclerosis of toe phalanx is_a: HP:0100947 ! Sclerosis of middle toe phalanx created_by: doelkens creation_date: 2009-05-29T01:53:35Z [Term] id: HP:0010200 name: Symphalangism affecting the middle phalanges of the toes synonym: "Fused middle bones of toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023973 is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:53:35Z [Term] id: HP:0010201 name: Triangular shaped middle phalanges of the toes synonym: "Triangular shaped middle bones of toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023972 is_a: HP:0010180 ! Triangular shaped phalanges of the toes is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:53:35Z [Term] id: HP:0010202 name: Duplication of middle phalanx of toe def: "Partial or complete duplication of a middle phalanx of toe." [HPO:probinson] synonym: "Partial/complete duplication of the middle bones of the toes" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the middle phalanges of the toes" EXACT [] xref: UMLS:C4021318 is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:53:35Z [Term] id: HP:0010203 name: Aplasia/hypoplasia of proximal toe phalanx def: "Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the toes." [HPO:probinson] synonym: "Absent/small innermost toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped innermost toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia/Hypoplasia of the proximal phalanges of the toes" EXACT [] xref: UMLS:C4021317 is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes is_a: HP:0010184 ! Abnormality of toe proximal phalanx created_by: doelkens creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010204 name: Broad proximal phalanx of toe def: "An increase in width of one ore more proximal toe phalanges." [HPO:probinson] synonym: "Broad innermost toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023971 is_a: HP:0010174 ! Broad phalanx of the toes is_a: HP:0010184 ! Abnormality of toe proximal phalanx created_by: doelkens creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010205 name: Bullet-shaped proximal toe phalanx def: "An abnormal morphology of one or more of the proximal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped innermost toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bullet-shaped proximal phalanges of the toes" EXACT [] synonym: "Bullet-shaped proximal phalanges of toe" EXACT [] xref: UMLS:C4021316 is_a: HP:0010175 ! Bullet-shaped toe phalanx is_a: HP:0010184 ! Abnormality of toe proximal phalanx created_by: doelkens creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010206 name: Curved proximal toe phalanx def: "A deviation from the normal straight shape of a proximal phalanx of one or more toes." [HPO:probinson] synonym: "Curved innermost toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Curved proximal phalanges of the toes" EXACT [] xref: UMLS:C4021315 is_a: HP:0010176 ! Curved toe phalanx is_a: HP:0010184 ! Abnormality of toe proximal phalanx created_by: doelkens creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010207 name: Osteolytic defect of the proximal toe phalanx def: "Dissolution or degeneration of bone tissue of the proximal toe phalanx." [HPO:probinson] synonym: "Osteolytic defects of the proximal phalanges of the toes" EXACT [] xref: UMLS:C4021314 is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes is_a: HP:0010184 ! Abnormality of toe proximal phalanx created_by: doelkens creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010208 name: Patchy sclerosis of proximal toe phalanx def: "Patchy (irregular) increase in bone density of one or more of the proximal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] synonym: "Patchy sclerosis of the proximal phalanges of the toes" EXACT [] synonym: "Uneven increase in bone density in innermost toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021313 is_a: HP:0010178 ! Patchy sclerosis of toe phalanx is_a: HP:0100946 ! Sclerosis of proximal toe phalanx created_by: doelkens creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010209 name: Symphalangism affecting the proximal phalanges of the toes synonym: "Fused innermost bones of toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023970 is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0010184 ! Abnormality of toe proximal phalanx created_by: doelkens creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010210 name: Triangular shaped proximal phalanges of the toes synonym: "Triangular shaped innermost toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023969 is_a: HP:0010180 ! Triangular shaped phalanges of the toes is_a: HP:0010184 ! Abnormality of toe proximal phalanx created_by: doelkens creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010211 name: Duplication of proximal phalanx of toe def: "Partial/complete duplication of a proximal phalanx of toe." [HPO:sdoelken] synonym: "Duplication of innermost toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the proximal phalanges of the toes" EXACT [] xref: UMLS:C4021312 is_a: HP:0010184 ! Abnormality of toe proximal phalanx created_by: doelkens creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010212 name: Flexion contracture of the hallux def: "One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively." [HPO:probinson] synonym: "Joint contracture of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Joint contracture of the hallux" EXACT [] xref: UMLS:C4021311 is_a: HP:0001844 ! Abnormality of the hallux is_a: HP:0005830 ! Flexion contracture of toe created_by: doelkens creation_date: 2009-06-02T01:39:18Z [Term] id: HP:0010213 name: Contracture of the tarsometatarsal joint of the hallux def: "Chronic loss of joint motion in the tarsometatarsal joint of the hallux due to structural changes in non-bony tissue. The tarsometatarsal joints of the feet are also called Lisfranc's joints." [HPO:probinson] xref: UMLS:C4023968 is_a: HP:0010212 ! Flexion contracture of the hallux created_by: doelkens creation_date: 2009-06-02T01:45:34Z [Term] id: HP:0010214 name: Contracture of the interphalangeal joint of the hallux def: "The interphalangeal joint of the big toe cannot be straightened actively or passively." [HPO:probinson] xref: UMLS:C4023967 is_a: HP:0010212 ! Flexion contracture of the hallux created_by: doelkens creation_date: 2009-06-02T01:45:34Z [Term] id: HP:0010215 name: Contractures of the metatarsophalangeal joint of the hallux def: "The joint between the first metatarsal and the proximal phalanx of the first (big) toe cannot be straightened actively or passively." [HPO:probinson] xref: UMLS:C4023966 is_a: HP:0010212 ! Flexion contracture of the hallux created_by: doelkens creation_date: 2009-06-02T01:45:34Z [Term] id: HP:0010219 name: Structural foot deformity def: "A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies." [HPO:curators] xref: UMLS:C4023965 is_a: HP:0001760 ! Abnormality of the foot created_by: doelkens creation_date: 2009-06-04T05:14:38Z [Term] id: HP:0010220 name: Abnormality of the epiphysis of the 2nd metacarpal def: "Any abnormality of the epiphysis of the second metacarpal bone." [HPO:curators] synonym: "Abnormality of the end part of the 2nd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023964 is_a: HP:0010010 ! Abnormality of the 2nd metacarpal created_by: doelkens creation_date: 2009-07-02T04:07:33Z [Term] id: HP:0010221 name: Pseudoepiphysis of the 2nd metacarpal def: "The normal epiphysis of the second metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present." [HPO:curators] xref: UMLS:C4023963 is_a: HP:0010220 ! Abnormality of the epiphysis of the 2nd metacarpal created_by: doelkens creation_date: 2009-07-02T04:08:00Z [Term] id: HP:0010222 name: Abnormality of the epiphysis of the 3rd metacarpal def: "Any abnormality of the epiphysis of the third metacarpal bone." [HPO:curators] synonym: "Abnormality of the end part of the 3rd long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023962 is_a: HP:0010011 ! Abnormality of the 3rd metacarpal created_by: doelkens creation_date: 2009-07-02T04:10:28Z [Term] id: HP:0010223 name: Pseudoepiphysis of the 3rd metacarpal def: "The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present." [HPO:curators] xref: UMLS:C4023961 is_a: HP:0010222 ! Abnormality of the epiphysis of the 3rd metacarpal created_by: doelkens creation_date: 2009-07-02T04:10:52Z [Term] id: HP:0010224 name: Abnormality of the epiphysis of the 4th metacarpal def: "Any abnormality of the epiphysis of the 4th metacarpal bone." [HPO:curators] synonym: "Abnormality of the end part of the 4th long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023960 is_a: HP:0010012 ! Abnormality of the 4th metacarpal created_by: doelkens creation_date: 2009-07-02T04:11:46Z [Term] id: HP:0010225 name: Pseudoepiphysis of the 4th metacarpal def: "The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present." [HPO:curators] xref: UMLS:C4023959 is_a: HP:0010224 ! Abnormality of the epiphysis of the 4th metacarpal created_by: doelkens creation_date: 2009-07-02T04:12:04Z [Term] id: HP:0010226 name: Abnormality of the epiphysis of the 5th metacarpal def: "Any abnormality of the epiphysis of the fifth metacarpal bone." [HPO:curators] synonym: "Abnormality of the end part of the long bone of little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the end part of the long bone of pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the end part of the long bone of pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023958 is_a: HP:0010013 ! Abnormality of the 5th metacarpal created_by: doelkens creation_date: 2009-07-02T04:13:00Z [Term] id: HP:0010227 name: Pseudoepiphysis of the 5th metacarpal def: "The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present." [HPO:curators] xref: UMLS:C4023957 is_a: HP:0010226 ! Abnormality of the epiphysis of the 5th metacarpal created_by: doelkens creation_date: 2009-07-02T04:13:20Z [Term] id: HP:0010228 name: Absent epiphyses of the phalanges of the hand alt_id: HP:0009359 def: "Absence of one or more epiphyses of the phalanges fingers." [HPO:curators] synonym: "Absent end part of fingers" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent epiphyses of the fingers" EXACT [] xref: UMLS:C4021310 is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand is_a: HP:0010577 ! Absent epiphyses created_by: doelkens creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010229 name: Bracket epiphyses of the phalanges of the hand alt_id: HP:0009360 def: "Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:probinson] synonym: "Bracket epiphyses of the fingers" EXACT [] synonym: "Bracket shaped end part of finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021309 is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand is_a: HP:0010578 ! Bracket epiphyses created_by: doelkens creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010230 name: Cone-shaped epiphyses of the phalanges of the hand alt_id: HP:0001175 alt_id: HP:0001207 alt_id: HP:0001242 alt_id: HP:0003766 alt_id: HP:0005803 alt_id: HP:0009361 def: "A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:curators] synonym: "Cone-shaped end part of finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cone-shaped epiphyses of hand" EXACT [] synonym: "Cone-shaped epiphyses of phalanges" EXACT [] synonym: "Cone-shaped epiphyses of the fingers" EXACT [] synonym: "Cone-shaped phalangeal epiphyses" EXACT [] synonym: "Coned epiphyses" EXACT [] synonym: "Coned epiphyses of hands" EXACT [] synonym: "Conical phalangeal epiphyses" EXACT [] synonym: "Phalangeal cone-shaped epiphyses" EXACT [] xref: UMLS:C1859480 is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand is_a: HP:0010579 ! Cone-shaped epiphysis created_by: doelkens creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010231 name: Enlarged epiphyses of the phalanges of the hand alt_id: HP:0006023 alt_id: HP:0009362 def: "Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms." [HPO:curators] synonym: "Enlarged end part of finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Enlarged epiphyses of the fingers" EXACT [] synonym: "Enlarged phalangeal epiphyses" EXACT [] xref: UMLS:C1865036 is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand is_a: HP:0010580 ! Enlarged epiphyses created_by: doelkens creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010232 name: Fragmentation of the epiphyses of the phalanges of the hand alt_id: HP:0009363 def: "Fragmented appearance of the epiphyses of the phalanges of the fingers." [HPO:curators] synonym: "Fragmentation of end part of finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fragmentation of the epiphyses of the fingers" EXACT [] xref: UMLS:C4021308 is_a: HP:0003841 ! Fragmented epiphyses of the upper limbs is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand created_by: doelkens creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010233 name: Irregular epiphyses of the phalanges of the hand alt_id: HP:0009364 def: "Irregular radiographic opacity of the epiphyses of the phalanges of the fingers." [HPO:curators] synonym: "Irregular end part of finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Irregular epiphyses of the fingers" EXACT [] xref: UMLS:C4021307 is_a: HP:0003842 ! Irregular epiphyses of the upper limbs is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand created_by: doelkens creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010234 name: Ivory epiphyses of the phalanges of the hand alt_id: HP:0001210 alt_id: HP:0009365 def: "Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] synonym: "Increased bone density of end part of the hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Ivory epiphyses of the fingers" EXACT [] synonym: "Sclerotic ivory phalangeal epiphyses" EXACT [] xref: UMLS:C1857651 is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand is_a: HP:0010583 ! Ivory epiphyses is_a: HP:0100899 ! Sclerosis of finger phalanx created_by: doelkens creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010235 name: Pseudoepiphyses of the phalanges of the hand alt_id: HP:0009366 def: "A secondary ossification center in the phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators] synonym: "Pseudoepiphysis of the fingers" EXACT [] xref: UMLS:C4021306 is_a: HP:0004288 ! Pseudoepiphyses of hand bones is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand created_by: doelkens creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010236 name: Small epiphyses of the phalanges of the hand alt_id: HP:0009367 def: "Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms." [HPO:curators] synonym: "Small end part of finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Small epiphyses of the fingers" EXACT [] xref: UMLS:C4021305 is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand is_a: HP:0010585 ! Small epiphyses created_by: doelkens creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010237 name: Epiphyseal stippling of finger phalanges alt_id: HP:0009368 def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers." [HPO:probinson] synonym: "Speckled calcifications in end part of finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Stippling of the epiphyses of the fingers" EXACT [] synonym: "Stippling of the epiphyses of the phalanges of the hand" EXACT [] xref: UMLS:C4021304 is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand is_a: HP:0010655 ! Epiphyseal stippling is_a: HP:0010660 ! Abnormal hand bone ossification created_by: doelkens creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010238 name: Triangular epiphyses of the phalanges of the hand alt_id: HP:0009369 def: "A triangular appearance of the epiphyses of the phalanges of the fingers of the hand." [HPO:curators] synonym: "Delta-shaped epiphyses of the fingers" EXACT [] synonym: "Triangular end part of finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular epiphyses of the fingers" EXACT [] xref: UMLS:C4021303 is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand is_a: HP:0010587 ! Triangular epiphyses created_by: doelkens creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010239 name: Aplasia of the middle phalanx of the hand alt_id: HP:0005778 def: "Absence of one or more middle phalanx of a finger." [HPO:probinson] synonym: "Absent middle bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent middle phalanges" EXACT [] synonym: "Missing middle phalanges" EXACT [] xref: UMLS:C1862096 is_a: HP:0009380 ! Aplasia of the fingers is_a: HP:0009802 ! Aplasia of the phalanges of the hand is_a: HP:0009843 ! Aplasia/Hypoplasia of the middle phalanges of the hand created_by: doelkens creation_date: 2009-07-06T03:59:39Z [Term] id: HP:0010241 name: Short proximal phalanx of finger alt_id: HP:0005670 alt_id: HP:0006138 def: "Congenital hypoplasia of one or more proximal phalanx of finger." [HPO:probinson] synonym: "Hypoplasia of the proximal phalanges of the hand" EXACT [] synonym: "Short innermost finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short proximal phalanges" EXACT [] synonym: "Short proximal phalanx of finger" EXACT layperson [] synonym: "Shortening in proximal phalanges" EXACT [] xref: UMLS:C1860606 is_a: HP:0009381 ! Short finger is_a: HP:0009803 ! Short phalanx of finger is_a: HP:0009851 ! Aplasia/Hypoplasia of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:00:44Z [Term] id: HP:0010242 name: Aplasia of the proximal phalanges of the hand alt_id: HP:0006102 synonym: "Absent innermost bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent proximal phalanges" EXACT [] xref: UMLS:C4021302 is_a: HP:0009380 ! Aplasia of the fingers is_a: HP:0009802 ! Aplasia of the phalanges of the hand is_a: HP:0009851 ! Aplasia/Hypoplasia of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:01:02Z [Term] id: HP:0010243 name: Abnormality of the epiphyses of the distal phalanx of finger def: "Any anomaly of distal epiphysis of phalanx of finger." [HPO:probinson] synonym: "Abnormality of the end part of the outermost bone of finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023956 is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger created_by: doelkens creation_date: 2009-07-06T04:21:32Z [Term] id: HP:0010244 name: Abnormality of the epiphyses of the middle phalanges of the hand synonym: "Abnormality of the end part of the middle hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023955 is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand created_by: doelkens creation_date: 2009-07-06T04:21:32Z [Term] id: HP:0010245 name: Abnormality of the epiphyses of the proximal phalanges of the hand synonym: "Abnormality of the end part of the innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023954 is_a: HP:0005920 ! Abnormal epiphysis morphology of the phalanges of the hand is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand created_by: doelkens creation_date: 2009-07-06T04:21:32Z [Term] id: HP:0010246 name: Absent epiphyses of the distal phalanges of the hand synonym: "Absent end part of the outermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023953 is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger created_by: doelkens creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010247 name: Bracket epiphyses of the distal phalanges of the hand def: "An abnormality of the distal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators] synonym: "Bracket shaped end part of the outermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023952 is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger created_by: doelkens creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010248 name: Cone-shaped epiphyses of the distal phalanges of the hand synonym: "Cone-shaped end part of the outermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023951 is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger created_by: doelkens creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010249 name: Enlarged epiphyses of the distal phalanges of the hand synonym: "Enlarged end part of the outermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023950 is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger created_by: doelkens creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010250 name: Fragmentation of the epiphyses of the distal phalanges of the hand synonym: "Fragmentation of the end part of the outermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023949 is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger created_by: doelkens creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010251 name: Irregular epiphyses of the distal phalanges of the hand synonym: "Irregular end part of the outermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023948 is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger created_by: doelkens creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010252 name: Ivory epiphyses of the distal phalanges of the hand alt_id: HP:0006105 def: "Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson] synonym: "Eburnated epiphyses of distal phalanges" EXACT [] synonym: "Increased bone density of end part of the outermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021301 is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger is_a: HP:0100915 ! Sclerosis of distal finger phalanx created_by: doelkens creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010253 name: Pseudoepiphyses of the distal phalanges of the hand def: "A secondary ossification center in the distal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [] xref: UMLS:C4023947 is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger created_by: doelkens creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010254 name: Small epiphyses of the distal phalanges of the hand synonym: "Small end part of the outermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023946 is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger created_by: doelkens creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010255 name: Stippling of the epiphyses of the distal phalanges of the hand synonym: "Speckled calcifications in the end part of the outermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023945 is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger created_by: doelkens creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010256 name: Triangular epiphyses of the distal phalanges of the hand synonym: "Triangular end part of the outermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023944 is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger created_by: doelkens creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010257 name: Absent epiphyses of the middle phalanges of the hand synonym: "Absent end part of the middle hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023943 is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010258 name: Bracket epiphyses of the middle phalanges of the hand def: "An abnormality of the middle phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators] synonym: "Bracket shaped end part of the middle hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023942 is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010259 name: Cone-shaped epiphyses of the middle phalanges of the hand alt_id: HP:0006033 alt_id: HP:0006058 synonym: "Cone-shaped end part of the middle hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cone-shaped epiphyses of middle phalanges" EXACT [] xref: UMLS:C1860828 is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010260 name: Enlarged epiphyses of the middle phalanges of the hand synonym: "Enlarged end part of the middle hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023941 is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010261 name: Fragmentation of the epiphyses of the middle phalanges of the hand def: "Fragmented appearance of the epiphyses of the middle phalanges of the hand." [HPO:curators] synonym: "Fragmentation of the end part of the middle hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023940 is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010262 name: Irregular epiphyses of the middle phalanges of the hand synonym: "Irregular end part of middle hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023939 is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010263 name: Ivory epiphyses of the middle phalanges of the hand def: "Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson] synonym: "Increased bone density of end part of the middle hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023938 is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand is_a: HP:0100916 ! Sclerosis of middle finger phalanx created_by: doelkens creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010264 name: Pseudoepiphyses of the middle phalanges of the hand def: "A secondary ossification center in the middle phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [] xref: UMLS:C4023937 is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010265 name: Small epiphyses of the middle phalanges of the hand synonym: "Small end part of the middle hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023936 is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010266 name: Stippling of the epiphyses of the middle phalanges of the hand synonym: "Speckled calcifications in the end part of the middle hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023935 is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010267 name: Triangular epiphyses of the middle phalanges of the hand synonym: "Triangular end part of the middle hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023934 is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010268 name: Absent epiphyses of the proximal phalanges of the hand synonym: "Absent end part of the innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023933 is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010269 name: Bracket epiphyses of the proximal phalanges of the hand def: "An abnormality of the proximal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [ORCID:0000-0001-7941-2961] synonym: "Bracket shaped end part of the innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023932 is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010270 name: Cone-shaped epiphyses of the proximal phalanges of the hand synonym: "Cone-shaped end part of the innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023931 is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010271 name: Enlarged epiphyses of the proximal phalanges of the hand synonym: "Enlarged end part of the innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023930 is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010272 name: Fragmentation of the epiphyses of the proximal phalanges of the hand synonym: "Fragmentation of the end part of the innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023929 is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010273 name: Irregular epiphyses of the proximal phalanges of the hand synonym: "Irregular end part of the innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023928 is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010274 name: Ivory epiphyses of the proximal phalanges of the hand def: "Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson] synonym: "Increased bone density of end part of the innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023927 is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand is_a: HP:0100917 ! Sclerosis of proximal finger phalanx created_by: doelkens creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010275 name: Pseudoepiphyses of the proximal phalanges of the hand def: "A secondary ossification center in the proximal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone." [HPO:curators] xref: UMLS:C4023926 is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010276 name: Small epiphyses of the proximal phalanges of the hand synonym: "Small end part of the innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023925 is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010277 name: Stippling of the epiphyses of the proximal phalanges of the hand synonym: "Speckled calcifications in the end part of the innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023924 is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010278 name: Triangular epiphyses of the proximal phalanges of the hand synonym: "Triangular end part of the innermost hand bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023923 is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010280 name: Stomatitis def: "Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth." [HPO:probinson] subset: hposlim_core synonym: "Gingivostomatitis" NARROW [ORCID:0000-0001-5889-4463] synonym: "Inflammation of the mouth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D013280 xref: SNOMEDCT_US:20607006 xref: SNOMEDCT_US:61170000 xref: UMLS:C0038362 xref: UMLS:C0149704 is_a: HP:0011830 ! Abnormal oral mucosa morphology is_a: HP:0012649 ! Increased inflammatory response created_by: peter creation_date: 2009-07-12T09:48:56Z [Term] id: HP:0010281 name: Cleft lower lip def: "A gap in the lower lip." [HPO:probinson] subset: hposlim_core synonym: "Cleft lower lip" EXACT layperson [] synonym: "Cleft of the lower lip" EXACT layperson [] synonym: "Lower labial cleft" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1856026 is_a: HP:0000178 ! Abnormality of lower lip is_a: HP:0410030 ! Cleft lip created_by: peter creation_date: 2009-07-12T09:50:34Z [Term] id: HP:0010282 name: Thin lower lip vermilion def: "Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective)." [pmid:19125428] comment: Normal values for the height of the vermilion are available [Farkas, 1981] but measurements are not commonly used. Most clinicians determine this feature subjectively. The height of the vermilion of the lower lip varies considerably among ethnic groups, and the vermilion should be compared to a population of same ethnic background. If the lower lip vermilion is thin, the inferior border of the vermilion is less curved, and on a profile view, the lower lip vermilion is less convex than usual. synonym: "Decreased height of lower lip vermilion" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased volume of lower lip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased volume of lower lip vermilion" EXACT [ORCID:0000-0001-5889-4463] synonym: "Thin lower lip" EXACT layperson [] synonym: "Thin red part of the lower lip" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Thin vermilion border of lower lip" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C2053440 is_a: HP:0000178 ! Abnormality of lower lip is_a: HP:0000233 ! Thin vermilion border created_by: peter creation_date: 2009-07-12T10:17:22Z [Term] id: HP:0010284 name: Intra-oral hyperpigmentation def: "Increased pigmentation, either focal or generalized, of the mucosa of the mouth." [pmid:19125428] comment: Pigmentation of alveolar ridges is common in people with dark skin pigmentation. This term encompasses a range of pigmentary findings, from freckles to generalized hyperpigmentation. subset: hposlim_core synonym: "Dark color of gums" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Gingival hyperpigmentation" NARROW [ORCID:0000-0001-5889-4463] synonym: "Gingival melanin pigmentation" NARROW [ORCID:0000-0001-5889-4463] synonym: "Hyperpigmentation of oral mucosa" EXACT [ORCID:0000-0001-5889-4463] synonym: "Oral mucosa melanin pigmentation" EXACT [ORCID:0000-0001-5889-4463] synonym: "Oral racial pigmentation" EXACT [ORCID:0000-0001-5889-4463] synonym: "Pigmented gums" NARROW layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:235038002 xref: UMLS:C0399483 xref: UMLS:C0877541 xref: UMLS:C4280387 xref: UMLS:C4280388 xref: UMLS:C4280389 is_a: HP:0100669 ! Abnormal pigmentation of the oral mucosa created_by: peter creation_date: 2009-07-12T10:33:11Z [Term] id: HP:0010285 name: Oral synechia def: "Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges." [pmid:19125428] comment: These bands must be distinguished from synechiaee between the tongue and palate (glossopalatal ankylosis) and from synechiae arising from the floor of the mouth (as in the subglossopalatal membrane), oropharyngeal isthmus (as in persistent buccopharyngeal membrane) or from the lower lip. If there is a complete soft tissue contiguity between the upper and lower alveolar ridges, the term, Fibrous syngnathia should be used instead. subset: hposlim_core synonym: "Oral fibrous bands" BROAD [] synonym: "Synechiae of the mouth" EXACT [] xref: UMLS:C4023921 is_a: HP:0011830 ! Abnormal oral mucosa morphology created_by: peter creation_date: 2009-07-12T10:37:03Z [Term] id: HP:0010286 name: Abnormal salivary gland morphology def: "Any abnormality of the salivary glands, the exocrine glands that produce saliva." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the salivary glands" EXACT layperson [] synonym: "Salivary gland disease" RELATED layperson [] xref: MSH:D012466 xref: SNOMEDCT_US:10890000 xref: UMLS:C0036093 xref: UMLS:C0149772 is_a: HP:0000163 ! Abnormal oral cavity morphology created_by: peter creation_date: 2009-07-12T10:38:51Z [Term] id: HP:0010287 name: Abnormality of the submandibular glands def: "Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles." [HPO:curators] synonym: "Abnormality of the submaxillary glands" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023920 is_a: HP:0010286 ! Abnormal salivary gland morphology created_by: peter creation_date: 2009-07-12T10:41:17Z [Term] id: HP:0010288 name: Abnormality of the sublingual glands def: "Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands." [HPO:curators] xref: UMLS:C4023919 is_a: HP:0010286 ! Abnormal salivary gland morphology created_by: peter creation_date: 2009-07-12T10:42:35Z [Term] id: HP:0010289 name: Cleft of alveolar ridge of maxilla def: "A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth." [HPO:mengelstad, HPO:probinson] subset: hposlim_core synonym: "Alveolar ridge cleft" EXACT [] synonym: "Cleft of alveolar process" NARROW [ORCID:0000-0001-5889-4463] synonym: "Cleft of gum ridge" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Notch of alveolar process" NARROW [ORCID:0000-0001-5889-4463] synonym: "Notch of alveolar ridge" EXACT [ORCID:0000-0001-5889-4463] synonym: "Notch of gum ridge" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:445306000 xref: UMLS:C1398533 xref: UMLS:C2919907 xref: UMLS:C4280386 is_a: HP:0410005 ! Cleft hard palate created_by: peter creation_date: 2009-07-12T10:47:29Z [Term] id: HP:0010290 name: Short hard palate def: "Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective)." [pmid:19125428] comment: Objective measurement of the hard palate requires special instrumentation [Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers]. A short hard palate may be associated with velopharyngeal incompetence. synonym: "Decreased length of hard palate" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypoplastic palate" RELATED [] synonym: "Short palate" RELATED [] xref: UMLS:C1398301 xref: UMLS:C4020772 xref: UMLS:C4023918 is_a: HP:0100737 ! Abnormal hard palate morphology created_by: peter creation_date: 2009-07-12T11:28:44Z [Term] id: HP:0010291 name: Prominent palatine ridges def: "Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge." [pmid:19125428] comment: Soft tissue folds are typically present on the lateral sides of the palate, especially anteriorly. subset: hposlim_core synonym: "Large lateral palatal folds" EXACT [ORCID:0000-0001-5889-4463] synonym: "Large lateral palatal ridges" EXACT [ORCID:0000-0001-5889-4463] synonym: "Prominent lateral palatal folds" EXACT [ORCID:0000-0001-5889-4463] synonym: "Prominent lateral palatal ridges" EXACT [] synonym: "Prominent palatine folds" EXACT [] xref: UMLS:C4021300 is_a: HP:0000174 ! Abnormal palate morphology created_by: peter creation_date: 2009-07-12T11:33:40Z [Term] id: HP:0010292 name: Absent uvula def: "Lack of the uvula." [pmid:19125428] comment: Sometimes accompanies a Submucous cleft palate, but this should be coded separately. subset: hposlim_core synonym: "Absent palatine uvula" EXACT [ORCID:0000-0001-5889-4463] synonym: "Agenesis of uvula" RELATED [ORCID:0000-0001-5889-4463] synonym: "Congenital absence of uvula" EXACT [] synonym: "Missing uvula" EXACT [ORCID:0000-0001-5889-4463] synonym: "Uvula aplasia" EXACT [] xref: SNOMEDCT_US:25148007 xref: UMLS:C0266121 is_a: HP:0010293 ! Aplasia/Hypoplasia of the uvula created_by: peter creation_date: 2009-07-12T11:36:21Z [Term] id: HP:0010293 name: Aplasia/Hypoplasia of the uvula def: "Underdevelopment or absence of the uvula." [HPO:curators] synonym: "Aplasia/hypoplasia of palatine uvula" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023917 is_a: HP:0000172 ! Abnormality of the uvula created_by: peter creation_date: 2009-07-12T11:36:52Z [Term] id: HP:0010294 name: Palate fistula def: "A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate." [HPO:probinson] synonym: "Hole in roof of mouth" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Palatal hole" BROAD [ORCID:0000-0001-5889-4463] synonym: "Palatal perforation" BROAD [ORCID:0000-0001-5889-4463] xref: UMLS:C2032780 xref: UMLS:C4280385 is_a: HP:0000174 ! Abnormal palate morphology created_by: peter creation_date: 2009-07-12T11:39:52Z [Term] id: HP:0010295 name: Aplasia/Hypoplasia of the tongue def: "Absence or underdevelopment of the tongue." [HPO:curators] synonym: "Lingual aplasia/hypoplasia" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023916 xref: UMLS:C4280384 is_a: HP:0030809 ! Abnormal tongue morphology created_by: peter creation_date: 2009-07-12T11:41:04Z [Term] id: HP:0010296 name: Ankyloglossia def: "Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue." [pmid:19125428] comment: The anterior third of the tongue is usually free or is partially attached to the floor of the mouth by the lingual frenulum. There is a spectrum ranging from fusion of the tongue to the floor of the mouth (ankyloglossia inferiorum) to a lingual frenulum that is short or anchored toward the tip of the tongue (sometimes called tongue tie). Ankyloglossia may be associated with a mild indentation of the tip of the tongue, which should not be coded as a Bifid tongue. synonym: "Tongue tie" RELATED [] synonym: "Tongue tied" EXACT layperson [] xref: MSH:D000072676 xref: SNOMEDCT_US:67787004 xref: UMLS:C0152415 is_a: HP:0000190 ! Abnormal oral frenulum morphology is_a: HP:0030809 ! Abnormal tongue morphology created_by: peter creation_date: 2009-07-12T11:44:22Z [Term] id: HP:0010297 name: Bifid tongue def: "Tongue with a median apical indentation or fork." [pmid:19125428] comment: Bifid tongue can be associated with ankyloglossia, but this should be assessed and coded separately. Small indentations of the tip of the tongue should not be coded as a bifid tongue. subset: hposlim_core synonym: "Bifurcated tongue" EXACT [ORCID:0000-0001-5889-4463] synonym: "Cleft tongue" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Forked tongue" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Snake tongue" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Split tongue" EXACT layperson [] xref: SNOMEDCT_US:84557007 xref: UMLS:C0266111 xref: UMLS:C4255098 is_a: HP:0030809 ! Abnormal tongue morphology created_by: peter creation_date: 2009-07-12T11:47:28Z [Term] id: HP:0010298 name: Smooth tongue def: "Glossy appearance of the entire tongue surface." [pmid:19125428] comment: This is due to reduction in number and/or size of the filiform papillae. A geographic tongue has localized areas of smoothening, but not sufficient to warrant use of the term Smooth tongue. subset: hposlim_core synonym: "Atrophy of dorsum of tongue" RELATED [ORCID:0000-0001-5889-4463] synonym: "Atrophy of lingual surface" RELATED [ORCID:0000-0001-5889-4463] synonym: "Atrophy of tongue surface" RELATED [ORCID:0000-0001-5889-4463] synonym: "Smooth dorsum of tongue" NARROW [ORCID:0000-0001-5889-4463] synonym: "Smooth lingual surface" EXACT [ORCID:0000-0001-5889-4463] synonym: "Smooth surface of tongue" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Smooth tongue" EXACT layperson [] xref: SNOMEDCT_US:9491003 xref: UMLS:C0155964 xref: UMLS:C4280381 xref: UMLS:C4280382 xref: UMLS:C4280383 is_a: HP:0030809 ! Abnormal tongue morphology created_by: peter creation_date: 2009-07-12T11:58:17Z [Term] id: HP:0010299 name: Abnormality of dentin def: "Any abnormality of dentin." [HPO:probinson] comment: Dentin is a calcified tissue of teeth that is covered by enamel on the crown and cementum on the root and surrounds the entire pulp. subset: hposlim_core synonym: "Abnormal dentin" EXACT layperson [HPO:skoehler] synonym: "Abnormality of dentin" EXACT layperson [] synonym: "Abnormality of dentine" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4021299 is_a: HP:0011061 ! Abnormality of dental structure created_by: peter creation_date: 2009-07-12T12:11:14Z [Term] id: HP:0010300 name: Abnormally low-pitched voice def: "An abnormally low-pitched voice." [HPO:curators] xref: UMLS:C4023915 is_a: HP:0001608 ! Abnormality of the voice created_by: peter creation_date: 2009-07-12T12:19:22Z [Term] id: HP:0010301 name: Spinal dysraphism def: "A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life." [HPO:probinson] comment: Spinal dysraphism, or neural tube defect comprises a heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life and anomalous development of the caudal cell mass. The anatomic features common to the entire group is an anomaly in the midline structures of the back, especially the absence of some of the neural arches, and defects of the skin, filum terminale, nerves, and spinal cord. Open forms of spinal dysraphism include myelocele, meningocele, and myelomeningocele. These open forms are often associated with hydrocephalus and Arnold-Chiari malformation type II and may be classified as spina bifida aperta. Closed forms of spinal dysraphism includ spina bifida occulta. synonym: "Incomplete closure of the vertebral arch" EXACT [HPO:sdoelken] xref: MSH:D009436 xref: SNOMEDCT_US:253098009 xref: UMLS:C0027794 is_a: HP:0002143 ! Abnormality of the spinal cord is_a: HP:0045005 ! Neural tube defect created_by: peter creation_date: 2009-07-12T12:58:04Z [Term] id: HP:0010302 name: Spinal cord tumor alt_id: HP:0009712 def: "A neoplasm affecting the spinal cord." [HPO:probinson] synonym: "Spinal cord tumor" EXACT layperson [] synonym: "Spinal tumor" RELATED layperson [] synonym: "Spinal tumors" RELATED layperson [HPO:skoehler] synonym: "Tumor of the spinal cord" EXACT layperson [] xref: MSH:D013120 xref: NCIT:C3262 xref: SNOMEDCT_US:126962006 xref: UMLS:C0037930 is_a: HP:0002143 ! Abnormality of the spinal cord is_a: HP:0100006 ! Neoplasm of the central nervous system created_by: peter creation_date: 2009-07-12T01:05:50Z [Term] id: HP:0010303 name: Abnormal spinal meningeal morphology def: "Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord." [HPO:probinson] synonym: "Abnormality of the spinal meninges" EXACT [] xref: UMLS:C4023914 is_a: HP:0002143 ! Abnormality of the spinal cord is_a: HP:0010651 ! Abnormal meningeal morphology created_by: peter creation_date: 2009-07-12T01:10:09Z [Term] id: HP:0010304 name: Spinal meningeal diverticulum def: "An outpouching of the spinal meninges." [HPO:curators] xref: UMLS:C4023913 is_a: HP:0010303 ! Abnormal spinal meningeal morphology created_by: peter creation_date: 2009-07-12T01:11:53Z [Term] id: HP:0010305 name: Absence of the sacrum def: "Absence (aplasia) of the sacrum." [HPO:probinson] subset: hposlim_core synonym: "Absent sacrum" EXACT [] synonym: "Sacral agenesis" EXACT [] synonym: "Sacrococcygeal agenesis" BROAD [] xref: MSH:C537221 xref: SNOMEDCT_US:205425003 xref: UMLS:C0344490 is_a: HP:0008517 ! Aplasia/Hypoplasia of the sacrum created_by: peter creation_date: 2009-07-12T01:13:26Z [Term] id: HP:0010306 name: Short thorax def: "Reduced inferior to superior extent of the thorax." [HPO:curators] synonym: "Shorter than typical length between neck and abdomen" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:249670005 xref: UMLS:C0426789 is_a: HP:0000765 ! Abnormality of the thorax created_by: peter creation_date: 2009-07-12T02:13:42Z [Term] id: HP:0010307 name: Stridor def: "Stridor is a high pitched sound resulting from turbulent air flow in the upper airway." [HPO:probinson, PMID:26229557] comment: Stridor is different from wheezing by the following reasons. It is louder over the neck than chest wall. Secondly; stridor is mainly inspiratory. If occurs in expiration, it is usually biphasic. On the other hand; wheeze is mainly expiratory and occurs during both phases. It indicates extrathoracic upper-airway obstruction (supraglottic lesions like laryngomalacia, vocal cord lesion) when heard on inspiration. It occurs in expiration if associated with intrathoracic tracheobronchial lesions (tracheomalacia, bronchomalacia, and extrinsic compression). It occurs in both phases if lesion is fixed, for example, stenosis. Stridor is caused by the turbulent flow passing through a narrowed segment of the upper respiratory tract. synonym: "Noisy breathing" BROAD layperson [ORCID:0000-0001-5208-3432] xref: MSH:D012135 xref: SNOMEDCT_US:248573009 xref: SNOMEDCT_US:70407001 xref: UMLS:C0038450 xref: UMLS:C0237304 is_a: HP:0030829 ! Abnormal breath sound created_by: peter creation_date: 2009-07-12T02:16:48Z [Term] id: HP:0010308 name: Asternia def: "The congenital absence of the sternum." [HPO:curators] xref: UMLS:C4023912 is_a: HP:0006714 ! Aplasia/Hypoplasia of the sternum created_by: peter creation_date: 2009-07-12T02:21:46Z [Term] id: HP:0010309 name: Bifid sternum def: "The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum." [HPO:probinson] comment: Various degrees of bifid sternum may occur, varying from an enlarged suprasternal notch to complete separation of the two halves of the sternum. Ectopia cordis may or may not accompany this defect in its more severe form. subset: hposlim_core synonym: "Sternal cleft" EXACT [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:54008006 xref: UMLS:C0265696 is_a: HP:0000766 ! Abnormality of the sternum created_by: peter creation_date: 2009-07-12T02:23:18Z [Term] id: HP:0010310 name: Chylothorax def: "Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity." [HPO:curators] xref: MSH:D002916 xref: SNOMEDCT_US:83035003 xref: UMLS:C0008733 is_a: HP:0002202 ! Pleural effusion created_by: peter creation_date: 2009-07-12T02:30:05Z [Term] id: HP:0010311 name: Aplasia/Hypoplasia of the breasts def: "Absence or underdevelopment of the breasts." [HPO:curators] synonym: "Absent/small breasts" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped breasts" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023911 is_a: HP:0031093 ! Abnormal breast morphology created_by: peter creation_date: 2009-07-12T02:31:49Z [Term] id: HP:0010312 name: Asymmetry of the breasts def: "The presence of asymmetrical breasts." [HPO:probinson] subset: hposlim_core xref: MSH:C565299 xref: UMLS:C1854013 is_a: HP:0031093 ! Abnormal breast morphology created_by: peter creation_date: 2009-07-12T02:32:46Z [Term] id: HP:0010313 name: Breast hypertrophy def: "The presence of hypertrophy of the breast." [HPO:probinson] subset: hposlim_core synonym: "Gigantomastia" EXACT [ORCID:0000-0001-5208-3432] synonym: "Hypertrophy of the breasts" EXACT [] synonym: "Macromastia" EXACT [ORCID:0000-0001-5208-3432] xref: MSH:C536821 xref: SNOMEDCT_US:372281005 xref: SNOMEDCT_US:372283008 xref: SNOMEDCT_US:372285001 xref: UMLS:C0020565 xref: UMLS:C0392533 xref: UMLS:C2225524 is_a: HP:0031093 ! Abnormal breast morphology created_by: peter creation_date: 2009-07-12T02:34:30Z [Term] id: HP:0010314 name: Premature thelarche def: "Premature development of the breasts." [HPO:probinson] synonym: "Premature breast development" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:102889008 xref: UMLS:C0425772 is_a: HP:0000826 ! Precocious puberty created_by: peter creation_date: 2009-07-12T02:36:24Z [Term] id: HP:0010315 name: Aplasia/Hypoplasia of the diaphragm def: "Absence or underdevelopment of the diaphragm." [HPO:curators] synonym: "Absent/small diaprhagm" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped diaprhagm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023910 is_a: HP:0000775 ! Abnormality of the diaphragm created_by: peter creation_date: 2009-07-12T02:41:58Z [Term] id: HP:0010316 name: Ebstein anomaly of the tricuspid valve alt_id: HP:0006674 def: "Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet." [DDD:dbrown, HPO:probinson] comment: Ebstein's anomaly is often associated with a hypoplastic right ventricle, patent foramen ovale, and a degree of cyanosis dependent on the amount if inadequacy of the tricuspid valve. Ebstein's anomaly may be associated with Wolf-Parkinson-White syndrome or other arrythmias. synonym: "Ebstein's anomaly" EXACT [] synonym: "Ebstein's anomaly of the tricuspid valve" EXACT [] synonym: "Ebstein's malformation" EXACT [] xref: EPCC:06.01.34 xref: ICD-10:Q22.5 xref: MSH:D004437 xref: SNOMEDCT_US:204357006 xref: UMLS:C0013481 is_a: HP:0001702 ! Abnormal tricuspid valve morphology created_by: peter creation_date: 2009-07-14T11:12:07Z [Term] id: HP:0010317 name: Scapular aplasia def: "Absence of the scapulae." [HPO:probinson] subset: hposlim_core synonym: "Absent scapula" EXACT [] synonym: "Absent shoulder blade" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021298 is_a: HP:0006713 ! Aplasia/Hypoplasia of the scapulae created_by: peter creation_date: 2009-07-14T11:40:24Z [Term] id: HP:0010318 name: Aplasia/Hypoplasia of the abdominal wall musculature def: "Absence or underdevelopment of the abdominal musculature." [HPO:curators] synonym: "Absent/small abdominal wall muscles" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped abdominal wall muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023909 is_a: HP:0010991 ! Abnormality of the abdominal musculature created_by: peter creation_date: 2009-07-14T11:51:46Z [Term] id: HP:0010319 name: Abnormality of the 2nd toe def: "An anomaly of the second toe." [HPO:probinson] xref: UMLS:C4023908 is_a: HP:0001780 ! Abnormality of toe created_by: doelkens creation_date: 2009-07-16T11:37:12Z [Term] id: HP:0010320 name: Abnormality of the 3rd toe def: "An anomaly of the third toe." [HPO:probinson] synonym: "Abnormality of the 3rd toe" EXACT layperson [] xref: UMLS:C4023907 is_a: HP:0001780 ! Abnormality of toe created_by: doelkens creation_date: 2009-07-16T11:37:12Z [Term] id: HP:0010321 name: Abnormality of the 4th toe def: "An anomaly of the fourth toe." [HPO:probinson] synonym: "Abnormality of the 4th toe" EXACT layperson [] xref: UMLS:C4023906 is_a: HP:0001780 ! Abnormality of toe created_by: doelkens creation_date: 2009-07-16T11:37:12Z [Term] id: HP:0010322 name: Abnormality of the 5th toe def: "An anomaly of the little toe." [HPO:probinson] synonym: "Abnormality of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023905 is_a: HP:0001780 ! Abnormality of toe created_by: doelkens creation_date: 2009-07-16T11:37:12Z [Term] id: HP:0010323 name: Abnormality of the epiphyses of the 2nd toe synonym: "Abnormality of the end part of the 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023904 is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010319 ! Abnormality of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:40:18Z [Term] id: HP:0010324 name: Abnormality of phalanx of the 2nd toe def: "An anomaly of a phalanx of second toe." [HPO:sdoelken] synonym: "Abnormality of the 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023903 is_a: HP:0010161 ! Abnormality of the phalanges of the toes is_a: HP:0010319 ! Abnormality of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:40:18Z [Term] id: HP:0010325 name: Aplasia/Hypoplasia of the 2nd toe synonym: "Absent/small 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023902 is_a: HP:0010319 ! Abnormality of the 2nd toe is_a: HP:0010760 ! Absent toe created_by: doelkens creation_date: 2009-07-16T11:40:18Z [Term] id: HP:0010326 name: Deviation of the 2nd toe synonym: "Displacement of the 2nd toe" EXACT layperson [] xref: UMLS:C4021297 is_a: HP:0010319 ! Abnormality of the 2nd toe is_a: HP:0100498 ! Deviation of toes created_by: doelkens creation_date: 2009-07-16T11:40:18Z [Term] id: HP:0010327 name: Flexion contracture of the 2nd toe def: "One or more bent (flexed) joints of the second toe that cannot be straightened actively or passively." [HPO:probinson] synonym: "Joint contractures of the 2nd toe" EXACT [] xref: UMLS:C4021296 is_a: HP:0005830 ! Flexion contracture of toe is_a: HP:0010319 ! Abnormality of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:40:18Z [Term] id: HP:0010328 name: Polydactyly affecting the 2nd toe xref: UMLS:C4023901 is_a: HP:0010112 ! Mesoaxial foot polydactyly is_a: HP:0010319 ! Abnormality of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:40:18Z [Term] id: HP:0010329 name: Abnormality of the epiphyses of the 3rd toe synonym: "Abnormality of the end part of the 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023900 is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010320 ! Abnormality of the 3rd toe created_by: doelkens creation_date: 2009-07-16T11:40:52Z [Term] id: HP:0010330 name: Abnormality of the phalanges of the 3rd toe synonym: "Abnormality of the bones of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023899 is_a: HP:0010161 ! Abnormality of the phalanges of the toes is_a: HP:0010320 ! Abnormality of the 3rd toe created_by: doelkens creation_date: 2009-07-16T11:40:52Z [Term] id: HP:0010331 name: Aplasia/Hypoplasia of the 3rd toe alt_id: HP:0008100 synonym: "Absent/hypoplastic third toe" EXACT [] synonym: "Absent/small 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1862698 is_a: HP:0010320 ! Abnormality of the 3rd toe is_a: HP:0010760 ! Absent toe created_by: doelkens creation_date: 2009-07-16T11:40:52Z [Term] id: HP:0010332 name: Deviation of the 3rd toe synonym: "Displacement of the 3rd toe" EXACT layperson [] xref: UMLS:C4021295 is_a: HP:0010320 ! Abnormality of the 3rd toe is_a: HP:0100498 ! Deviation of toes created_by: doelkens creation_date: 2009-07-16T11:40:52Z [Term] id: HP:0010333 name: Flexion contracture of 3rd toe def: "One or more bent (flexed) joints of the third toe that cannot be straightened actively or passively." [HPO:probinson] synonym: "Joint contractures of the 3rd toe" EXACT [] xref: UMLS:C4021294 is_a: HP:0005830 ! Flexion contracture of toe is_a: HP:0010320 ! Abnormality of the 3rd toe created_by: doelkens creation_date: 2009-07-16T11:40:52Z [Term] id: HP:0010334 name: Polydactyly affecting the 3rd toe xref: UMLS:C4023898 is_a: HP:0010112 ! Mesoaxial foot polydactyly is_a: HP:0010320 ! Abnormality of the 3rd toe created_by: doelkens creation_date: 2009-07-16T11:40:52Z [Term] id: HP:0010335 name: Abnormality of the epiphyses of the 4th toe synonym: "Abnormality of the end part of the 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023897 is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010321 ! Abnormality of the 4th toe created_by: doelkens creation_date: 2009-07-16T11:41:21Z [Term] id: HP:0010336 name: Abnormality of the phalanges of the 4th toe xref: UMLS:C4023896 is_a: HP:0010161 ! Abnormality of the phalanges of the toes is_a: HP:0010321 ! Abnormality of the 4th toe created_by: doelkens creation_date: 2009-07-16T11:41:21Z [Term] id: HP:0010337 name: Aplasia/Hypoplasia of the 4th toe synonym: "Absent/small 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023895 is_a: HP:0010321 ! Abnormality of the 4th toe is_a: HP:0010760 ! Absent toe created_by: doelkens creation_date: 2009-07-16T11:41:21Z [Term] id: HP:0010338 name: Deviation of the 4th toe synonym: "Displacement of the 4th toe" EXACT [] xref: UMLS:C4021293 is_a: HP:0010321 ! Abnormality of the 4th toe is_a: HP:0100498 ! Deviation of toes created_by: doelkens creation_date: 2009-07-16T11:41:21Z [Term] id: HP:0010339 name: Flexion contracture of the 4th toe def: "One or more bent (flexed) joints of the fourth toe that cannot be straightened actively or passively." [HPO:probinson] synonym: "Joint contractures of the 4th toe" EXACT [] xref: UMLS:C4021292 is_a: HP:0005830 ! Flexion contracture of toe is_a: HP:0010321 ! Abnormality of the 4th toe created_by: doelkens creation_date: 2009-07-16T11:41:21Z [Term] id: HP:0010340 name: Polydactyly affecting the 4th toe xref: UMLS:C4023894 is_a: HP:0010112 ! Mesoaxial foot polydactyly is_a: HP:0010321 ! Abnormality of the 4th toe created_by: doelkens creation_date: 2009-07-16T11:41:21Z [Term] id: HP:0010341 name: Abnormality of the epiphyses of the 5th toe synonym: "Abnormality of the end part of the little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the end part of the pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the end part of the pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023893 is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010322 ! Abnormality of the 5th toe created_by: doelkens creation_date: 2009-07-16T11:41:49Z [Term] id: HP:0010342 name: Abnormality of the phalanges of the 5th toe synonym: "Abnormality of the little toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the pinkie toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the pinky toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023892 is_a: HP:0010161 ! Abnormality of the phalanges of the toes is_a: HP:0010322 ! Abnormality of the 5th toe created_by: doelkens creation_date: 2009-07-16T11:41:49Z [Term] id: HP:0010343 name: Aplasia/Hypoplasia of the 5th toe synonym: "Absent/small little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/small pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/small pinky toe" EXACT [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023891 is_a: HP:0010322 ! Abnormality of the 5th toe is_a: HP:0010760 ! Absent toe created_by: doelkens creation_date: 2009-07-16T11:41:49Z [Term] id: HP:0010344 name: Deviation of the 5th toe synonym: "Displacement of the 5th toe" EXACT [] synonym: "Displacement of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Displacement of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Displacement of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021291 is_a: HP:0010322 ! Abnormality of the 5th toe is_a: HP:0100498 ! Deviation of toes created_by: doelkens creation_date: 2009-07-16T11:41:49Z [Term] id: HP:0010345 name: Flexion contracture of the 5th toe def: "One or more bent (flexed) joints of the fifth toe that cannot be straightened actively or passively." [HPO:probinson] synonym: "Joint contractures of the 5th toe" EXACT layperson [] xref: UMLS:C4021290 is_a: HP:0005830 ! Flexion contracture of toe is_a: HP:0010322 ! Abnormality of the 5th toe created_by: doelkens creation_date: 2009-07-16T11:41:49Z [Term] id: HP:0010347 name: Aplasia/Hypoplasia of the phalanges of the 2nd toe synonym: "Absent/small bones of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped bones of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023890 is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010348 name: Broad phalanges of the 2nd toe synonym: "Broad bones of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023889 is_a: HP:0010174 ! Broad phalanx of the toes is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010349 name: Bullet-shaped 2nd toe phalanx def: "An abnormal morphology of one or more phalanges of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped bones of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bullet-shaped phalanges of the 2nd toe" EXACT [] xref: UMLS:C4021289 is_a: HP:0010175 ! Bullet-shaped toe phalanx is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010350 name: Curved 2nd toe phalanx def: "A deviation from the normal straight form of one or more phalanges of the second toe." [HPO:probinson] synonym: "Curved bones of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Curved phalanges of the 2nd toe" EXACT layperson [] xref: UMLS:C4021288 is_a: HP:0010176 ! Curved toe phalanx is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010351 name: Osteolytic defects of the phalanges of the 2nd toe xref: UMLS:C4023888 is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010352 name: Patchy sclerosis of 2nd toe phalanx def: "Patchy (irregular) increase in bone density of one or more of the phalanges of the second toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] synonym: "Patchy sclerosis of the phalanges of the 2nd toe" EXACT [] synonym: "Uneven increase in bone density in 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021287 is_a: HP:0010178 ! Patchy sclerosis of toe phalanx is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe is_a: HP:0100926 ! Sclerosis of 2nd toe phalanx created_by: doelkens creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010353 name: Symphalangism affecting the phalanges of the 2nd toe def: "Fusion of the interphalangeal joints of the 2nd toe." [HPO:probinson] synonym: "Fused bones of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023887 is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe is_a: HP:0100235 ! Synostosis involving bones of the toes created_by: doelkens creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010354 name: Triangular shaped phalanges of the 2nd toe synonym: "Triangular shaped bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular shaped bone of second toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023886 is_a: HP:0010180 ! Triangular shaped phalanges of the toes is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010355 name: Duplication of the phalanges of the 2nd toe def: "Partial or complete duplication of a phalanx of second toe." [HPO:sdoelken] synonym: "Duplication of the bones of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the phalanges of the 2nd toe" EXACT [] xref: UMLS:C4021286 is_a: HP:0010181 ! Duplication of phalanx of toe is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010356 name: Abnormality of the distal phalanx of the 2nd toe synonym: "Abnormality of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023885 is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010357 name: Abnormality of the middle phalanx of the 2nd toe synonym: "Abnormality of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023884 is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010358 name: Abnormality of the proximal phalanx of the 2nd toe synonym: "Abnormality of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023883 is_a: HP:0010184 ! Abnormality of toe proximal phalanx is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010359 name: Aplasia/Hypoplasia of the phalanges of the 3rd toe synonym: "Absent/small bones of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped bones of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023882 is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe created_by: doelkens creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010360 name: Broad phalanges of the 3rd toe synonym: "Wide bones of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023881 is_a: HP:0010174 ! Broad phalanx of the toes is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe created_by: doelkens creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010361 name: Bullet-shaped 3rd toe phalanx def: "An abnormal morphology of one or more phalanges of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped bones of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bullet-shaped phalanges of the 3rd toe" EXACT [] xref: UMLS:C4021285 is_a: HP:0010175 ! Bullet-shaped toe phalanx is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe created_by: doelkens creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010362 name: Curved 3rd toe phalanx def: "A deviation from the normal straight form of one or more phalanges of the third toe." [HPO:probinson] synonym: "Curved bones of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Curved phalanges of the 3rd toe" EXACT layperson [] xref: UMLS:C4021284 is_a: HP:0010176 ! Curved toe phalanx is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe created_by: doelkens creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010363 name: Osteolytic defects of the phalanges of the 3rd toe xref: UMLS:C4021825 is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe created_by: doelkens creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010364 name: Patchy sclerosis of 3rd toe phalanx def: "Patchy (irregular) increase in bone density of one or more of the phalanges of the third toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] synonym: "Patchy sclerosis of the phalanges of the 3rd toe" EXACT [] synonym: "Uneven increase in bone density in 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021283 is_a: HP:0010178 ! Patchy sclerosis of toe phalanx is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe is_a: HP:0100927 ! Sclerosis of 3rd toe phalanx created_by: doelkens creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010365 name: Symphalangism affecting the phalanges of the 3rd toe synonym: "Fused bones of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023880 is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe is_a: HP:0100235 ! Synostosis involving bones of the toes created_by: doelkens creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010366 name: Triangular shaped phalanges of the 3rd toe synonym: "Triangular shaped 3rd toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023879 is_a: HP:0010180 ! Triangular shaped phalanges of the toes is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe created_by: doelkens creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010367 name: Duplication of phalanx of the 3rd toe def: "Partial or complete duplication of phalanx of third toe." [HPO:sdoelken] synonym: "Duplication of 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of phalanx of the third toe" EXACT [] synonym: "Partial/complete duplication of the phalanges of the 3rd toe" EXACT [] xref: UMLS:C4021282 is_a: HP:0010181 ! Duplication of phalanx of toe is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe created_by: doelkens creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010368 name: Abnormality of the distal phalanx of the 3rd toe synonym: "Abnormality of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023878 is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe created_by: doelkens creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010369 name: Abnormality of the middle phalanx of the 3rd toe synonym: "Abnormality of the middle bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023877 is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe created_by: doelkens creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010370 name: Abnormality of the proximal phalanx of the 3rd toe def: "An anomaly of the proximal phalanx of third toe." [HPO:probinson] synonym: "Abnormality of the innermost bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023876 is_a: HP:0010184 ! Abnormality of toe proximal phalanx is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe created_by: doelkens creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010371 name: Aplasia/Hypoplasia of the phalanges of the 4th toe synonym: "Absent/small bones of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped bones of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023875 is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe created_by: doelkens creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010372 name: Broad phalanges of the 4th toe synonym: "Broad bones of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023874 is_a: HP:0010174 ! Broad phalanx of the toes is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe created_by: doelkens creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010373 name: Bullet-shaped 4th toe phalanx def: "An abnormal morphology of one or more phalanges of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped bones of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bullet-shaped phalanges of the 4th toe" EXACT [] xref: UMLS:C4021281 is_a: HP:0010175 ! Bullet-shaped toe phalanx is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe created_by: doelkens creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010374 name: Curved 4th toe phalanx def: "A deviation from the normal straight form of one or more phalanges of the fourth toe." [HPO:probinson] synonym: "Curved bones of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Curved phalanges of the 4th toe" EXACT [] xref: UMLS:C4021280 is_a: HP:0010176 ! Curved toe phalanx is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe created_by: doelkens creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010375 name: Osteolytic defects of the phalanges of the 4th toe xref: UMLS:C4023873 is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe created_by: doelkens creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010376 name: Patchy sclerosis of 4th toe phalanx def: "Patchy (irregular) increase in bone density of one or more of the phalanges of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] synonym: "Patchy sclerosis of the phalanges of the 4th toe" EXACT layperson [] synonym: "Uneven increase in bone density in 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021279 is_a: HP:0010178 ! Patchy sclerosis of toe phalanx is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe is_a: HP:0100928 ! Sclerosis of 4th toe phalanx created_by: doelkens creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010377 name: Symphalangism affecting the phalanges of the 4th toe synonym: "Fused bones of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023872 is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe is_a: HP:0100235 ! Synostosis involving bones of the toes created_by: doelkens creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010378 name: Triangular shaped phalanges of the 4th toe synonym: "Triangular shaped bones of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023871 is_a: HP:0010180 ! Triangular shaped phalanges of the toes is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe created_by: doelkens creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010379 name: Duplication of phalanx of the 4th toe def: "Partial or complete duplication of phalanx of fourth toe." [HPO:probinson] synonym: "Duplication of 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of phalanx of the fourth toe" EXACT [] synonym: "Partial/complete duplication of the phalanges of the 4th toe" EXACT [] xref: UMLS:C4021278 is_a: HP:0010181 ! Duplication of phalanx of toe is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe created_by: doelkens creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010380 name: Abnormality of the distal phalanx of the 4th toe synonym: "Abnormality of the outermost 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023870 is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe created_by: doelkens creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010381 name: Abnormality of the middle phalanx of the 4th toe synonym: "Abnormality of middle 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023869 is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes created_by: doelkens creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010382 name: Abnormality of the proximal phalanx of the 4th toe synonym: "Abnormal innermost 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023868 is_a: HP:0010184 ! Abnormality of toe proximal phalanx is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe created_by: doelkens creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010383 name: Aplasia/Hypoplasia of the phalanges of the 5th toe synonym: "Absent/small little toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/small pinkie toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/small pinky toe bones" EXACT [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped pinky toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023867 is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe created_by: doelkens creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010384 name: Broad phalanges of the 5th toe synonym: "Broad bones of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Broad bones of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Broad bones of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023866 is_a: HP:0010174 ! Broad phalanx of the toes is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe created_by: doelkens creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010385 name: Bullet-shaped 5th toe phalanx def: "An abnormal morphology of one or more phalanges of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped bones of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bullet-shaped bones of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bullet-shaped bones of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bullet-shaped phalanges of the 5th toe" EXACT [] xref: UMLS:C4021277 is_a: HP:0010175 ! Bullet-shaped toe phalanx is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe created_by: doelkens creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010386 name: Curved 5th toe phalanx def: "A deviation from the normal straight form of one or more phalanges of the fifth toe." [HPO:probinson] synonym: "Curved little toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Curved phalanges of the 5th toe" EXACT [] synonym: "Curved pinkie toe bones" EXACT [ORCID:0000-0001-5208-3432] synonym: "Curved pinky toe bones" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4021276 is_a: HP:0010176 ! Curved toe phalanx is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe created_by: doelkens creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010387 name: Osteolytic defects of the phalanges of the 5th toe xref: UMLS:C4023865 is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe created_by: doelkens creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010388 name: Patchy sclerosis of 5th toe phalanx def: "Patchy (irregular) increase in bone density of one or more of the phalanges of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] synonym: "Patchy sclerosis of the phalanges of the 5th toe" EXACT [] synonym: "Uneven increase in bone density in little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Uneven increase in bone density in pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Uneven increase in bone density in pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021275 is_a: HP:0010178 ! Patchy sclerosis of toe phalanx is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe is_a: HP:0100929 ! Sclerosis of 5th toe phalanx created_by: doelkens creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010389 name: Symphalangism affecting the phalanges of the 5th toe synonym: "Fused bones in the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fused bones in the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fused bones in the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023864 is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe is_a: HP:0100235 ! Synostosis involving bones of the toes created_by: doelkens creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010390 name: Triangular shaped phalanges of the 5th toe synonym: "Triangular shaped little toe bone" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Triangular shaped pinkie toe bone" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Triangular shaped pinky toe bone" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023863 is_a: HP:0010180 ! Triangular shaped phalanges of the toes is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe created_by: doelkens creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010391 name: Duplication of the phalanges of the 5th toe def: "Partial or complete duplication of one or more phalanx of little toe." [HPO:probinson] synonym: "Duplication of the bones of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of the bones of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of the bones of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of the phalanges of the fifth toe" EXACT [] synonym: "Partial/complete duplication of the phalanges of the 5th toe" EXACT [] xref: UMLS:C4020903 is_a: HP:0010181 ! Duplication of phalanx of toe is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe created_by: doelkens creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010392 name: Abnormality of the distal phalanx of the 5th toe synonym: "Abnormality of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023862 is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes created_by: doelkens creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010393 name: Abnormality of the middle phalanx of the 5th toe synonym: "Abnormality of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023861 is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe created_by: doelkens creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010394 name: Abnormality of the proximal phalanx of the 5th toe synonym: "Abnormality of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023860 is_a: HP:0010184 ! Abnormality of toe proximal phalanx is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe created_by: doelkens creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010395 name: Aplasia/hypoplasia of the proximal phalanx of the 2nd toe def: "Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 2nd toe." [HPO:probinson] synonym: "Absent/small innermost 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped innermost 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023859 is_a: HP:0010203 ! Aplasia/hypoplasia of proximal toe phalanx is_a: HP:0010325 ! Aplasia/Hypoplasia of the 2nd toe is_a: HP:0010347 ! Aplasia/Hypoplasia of the phalanges of the 2nd toe is_a: HP:0010358 ! Abnormality of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:58:15Z [Term] id: HP:0010396 name: Broad proximal phalanx of the 2nd toe synonym: "Broad innermost bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023858 is_a: HP:0010204 ! Broad proximal phalanx of toe is_a: HP:0010348 ! Broad phalanges of the 2nd toe is_a: HP:0010358 ! Abnormality of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:58:15Z [Term] id: HP:0010397 name: Bullet-shaped proximal phalanx of the 2nd toe def: "An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped innermost bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023857 is_a: HP:0010205 ! Bullet-shaped proximal toe phalanx is_a: HP:0010349 ! Bullet-shaped 2nd toe phalanx is_a: HP:0010358 ! Abnormality of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:58:15Z [Term] id: HP:0010398 name: Curved proximal phalanx of the 2nd toe def: "A deviation from the normal straight form of the proximal phalanx of the 2nd toe." [HPO:probinson] synonym: "Curved innermost bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023856 is_a: HP:0010206 ! Curved proximal toe phalanx is_a: HP:0010350 ! Curved 2nd toe phalanx is_a: HP:0010358 ! Abnormality of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:58:15Z [Term] id: HP:0010399 name: Osteolytic defects of the proximal phalanx of the 2nd toe xref: UMLS:C4023855 is_a: HP:0010351 ! Osteolytic defects of the phalanges of the 2nd toe is_a: HP:0010358 ! Abnormality of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:58:15Z [Term] id: HP:0010400 name: Patchy sclerosis of the proximal phalanx of the 2nd toe synonym: "Uneven increase in bone density in the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023854 is_a: HP:0010208 ! Patchy sclerosis of proximal toe phalanx is_a: HP:0010352 ! Patchy sclerosis of 2nd toe phalanx is_a: HP:0010358 ! Abnormality of the proximal phalanx of the 2nd toe is_a: HP:0100931 ! Sclerosis of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:58:15Z [Term] id: HP:0010401 name: Symphalangism affecting the proximal phalanx of the 2nd toe synonym: "Fused innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023853 is_a: HP:0010353 ! Symphalangism affecting the phalanges of the 2nd toe is_a: HP:0010358 ! Abnormality of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:58:15Z [Term] id: HP:0010402 name: Triangular shaped proximal phalanx of the 2nd toe synonym: "Triangular shaped innermost 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023852 is_a: HP:0010354 ! Triangular shaped phalanges of the 2nd toe is_a: HP:0010358 ! Abnormality of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:58:15Z [Term] id: HP:0010403 name: Duplication of the proximal phalanx of the 2nd toe def: "Partial or complete duplication of proximal phalanx of second toe." [HPO:sdoelken] synonym: "Duplication of innermost 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of the proximal phalanx of the second toe" EXACT [] synonym: "Partial/complete duplication of the proximal phalanx of the 2nd toe" EXACT [] xref: UMLS:C4021274 is_a: HP:0010355 ! Duplication of the phalanges of the 2nd toe is_a: HP:0010358 ! Abnormality of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:58:15Z [Term] id: HP:0010404 name: Aplasia/Hypoplasia of the middle phalanx of the 2nd toe synonym: "Absent/small middle bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped middle bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023851 is_a: HP:0010194 ! Aplasia/Hypoplasia of the middle phalanges of the toes is_a: HP:0010325 ! Aplasia/Hypoplasia of the 2nd toe is_a: HP:0010347 ! Aplasia/Hypoplasia of the phalanges of the 2nd toe is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:43:52Z [Term] id: HP:0010405 name: Broad middle phalanx of the 2nd toe synonym: "Broad middle bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023850 is_a: HP:0010195 ! Broad middle phalanges of the toes is_a: HP:0010348 ! Broad phalanges of the 2nd toe is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:43:52Z [Term] id: HP:0010406 name: Bullet-shaped middle phalanx of the 2nd toe def: "An abnormal morphology of the middle phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped middle bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023849 is_a: HP:0010349 ! Bullet-shaped 2nd toe phalanx is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:43:52Z [Term] id: HP:0010407 name: Curved middle phalanx of the 2nd toe def: "A deviation from the normal straight form of the middle phalanx of the 2nd toe." [HPO:probinson] synonym: "Curved middle bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023848 is_a: HP:0010197 ! Curved middle toe phalanx is_a: HP:0010350 ! Curved 2nd toe phalanx is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:43:52Z [Term] id: HP:0010408 name: Osteolytic defects of the middle phalanx of the 2nd toe xref: UMLS:C4023847 is_a: HP:0010351 ! Osteolytic defects of the phalanges of the 2nd toe is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:43:52Z [Term] id: HP:0010409 name: Patchy sclerosis of the middle phalanx of the 2nd toe synonym: "Uneven increase in bone density in the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023846 is_a: HP:0010199 ! Patchy sclerosis of middle toe phalanx is_a: HP:0010352 ! Patchy sclerosis of 2nd toe phalanx is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe is_a: HP:0100935 ! Sclerosis of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:43:52Z [Term] id: HP:0010410 name: Symphalangism affecting the middle phalanx of the 2nd toe synonym: "Fused middle bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023845 is_a: HP:0010353 ! Symphalangism affecting the phalanges of the 2nd toe is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:43:52Z [Term] id: HP:0010411 name: Triangular shaped middle phalanx of the 2nd toe synonym: "Triangular shaped middle bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023844 is_a: HP:0010354 ! Triangular shaped phalanges of the 2nd toe is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:43:52Z [Term] id: HP:0010412 name: Duplication of the middle phalanx of the 2nd toe def: "Partial or complete duplication of middle phalanx of second toe." [HPO:sdoelken] synonym: "Duplication of middle bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the middle phalanx of the 2nd toe" EXACT [] xref: UMLS:C4021273 is_a: HP:0010355 ! Duplication of the phalanges of the 2nd toe is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:43:52Z [Term] id: HP:0010413 name: Aplasia/Hypoplasia of the distal phalanx of the 2nd toe synonym: "Absent/small outermost 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped outermost 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023843 is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes is_a: HP:0010325 ! Aplasia/Hypoplasia of the 2nd toe is_a: HP:0010347 ! Aplasia/Hypoplasia of the phalanges of the 2nd toe is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:44:41Z [Term] id: HP:0010414 name: Broad distal phalanx of the 2nd toe synonym: "Broad outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023842 is_a: HP:0010186 ! Broad distal phalanx of the toes is_a: HP:0010348 ! Broad phalanges of the 2nd toe is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:44:41Z [Term] id: HP:0010415 name: Bullet-shaped distal phalanx of the 2nd toe def: "An abnormal morphology of the distal phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023841 is_a: HP:0010349 ! Bullet-shaped 2nd toe phalanx is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:44:41Z [Term] id: HP:0010416 name: Curved distal phalanx of the 2nd toe def: "A deviation from the normal straight form of the distal phalanx of the 2nd toe." [HPO:probinson] synonym: "Curved outermost bone of the 2nd toe" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4023840 is_a: HP:0010188 ! Curved distal toe phalanx is_a: HP:0010350 ! Curved 2nd toe phalanx is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:44:41Z [Term] id: HP:0010417 name: Osteolytic defects of the distal phalanx of the 2nd toe xref: UMLS:C4023839 is_a: HP:0010351 ! Osteolytic defects of the phalanges of the 2nd toe is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:44:41Z [Term] id: HP:0010418 name: Patchy sclerosis of the distal phalanx of the 2nd toe synonym: "Uneven increase in bone density in the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023838 is_a: HP:0010190 ! Patchy sclerosis of distal toe phalanx is_a: HP:0010352 ! Patchy sclerosis of 2nd toe phalanx is_a: HP:0100939 ! Sclerosis of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:44:41Z [Term] id: HP:0010419 name: Symphalangism affecting the distal phalanx of the 2nd toe synonym: "Fused outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023837 is_a: HP:0001859 ! Distal foot symphalangism is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe is_a: HP:0010410 ! Symphalangism affecting the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:44:41Z [Term] id: HP:0010420 name: Triangular shaped distal phalanx of the 2nd toe synonym: "Triangular shaped outermost 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023836 is_a: HP:0010354 ! Triangular shaped phalanges of the 2nd toe is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:44:41Z [Term] id: HP:0010421 name: Duplication of the distal phalanx of the 2nd toe def: "Partial or complete duplication of the distal phalanx of second toe." [HPO:sdoelken] synonym: "Duplication of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the distal phalanx of the 2nd toe" EXACT [] xref: UMLS:C4021272 is_a: HP:0010193 ! Duplication of distal phalanx of toe is_a: HP:0010355 ! Duplication of the phalanges of the 2nd toe is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:44:41Z [Term] id: HP:0010422 name: Complete duplication of the proximal phalanx of the 2nd toe def: "Complete duplication of proximal phalanx of second toe." [HPO:sdoelken] synonym: "Complete duplication of the innermost 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Complete duplication of the proximal phalanx of the second toe" EXACT [] xref: UMLS:C4021271 is_a: HP:0010403 ! Duplication of the proximal phalanx of the 2nd toe is_a: HP:0010429 ! Complete duplication of the phalanges of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:56:56Z [Term] id: HP:0010423 name: Partial duplication of the proximal phalanx of the 2nd toe def: "Partial duplication of proximal phalanx of second toe." [HPO:probinson] synonym: "Partial duplication of the innermost 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial duplication of the proximal phalanx of the second toe" EXACT [] xref: UMLS:C4021270 is_a: HP:0010403 ! Duplication of the proximal phalanx of the 2nd toe is_a: HP:0010428 ! Partial duplication of phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:56:56Z [Term] id: HP:0010424 name: Complete duplication of the distal phalanx of the 2nd toe def: "Complete duplication of the distal phalanx of second toe." [HPO:probinson] synonym: "Complete duplication of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023835 is_a: HP:0010421 ! Duplication of the distal phalanx of the 2nd toe is_a: HP:0010429 ! Complete duplication of the phalanges of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:57:27Z [Term] id: HP:0010425 name: Partial duplication of the distal phalanx of the 2nd toe def: "Partial duplication of the distal phalanx of second toe." [HPO:probinson] synonym: "Partial duplication of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023834 is_a: HP:0010421 ! Duplication of the distal phalanx of the 2nd toe is_a: HP:0010428 ! Partial duplication of phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:57:27Z [Term] id: HP:0010426 name: Complete duplication of the middle phalanx of the 2nd toe def: "Complete duplication of middle phalanx of second toe." [HPO:sdoelken] synonym: "Complete duplication of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023833 is_a: HP:0010412 ! Duplication of the middle phalanx of the 2nd toe is_a: HP:0010429 ! Complete duplication of the phalanges of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:58:18Z [Term] id: HP:0010427 name: Partial duplication of the middle phalanx of the 2nd toe def: "Partial duplication of middle phalanx of second toe." [HPO:sdoelken] synonym: "Partial duplication of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023832 is_a: HP:0010412 ! Duplication of the middle phalanx of the 2nd toe is_a: HP:0010428 ! Partial duplication of phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:58:18Z [Term] id: HP:0010428 name: Partial duplication of phalanx of the 2nd toe def: "Partial duplication of a phalanx of second toe." [HPO:sdoelken] synonym: "Partial duplication of 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023831 is_a: HP:0010355 ! Duplication of the phalanges of the 2nd toe created_by: doelkens creation_date: 2009-07-16T04:07:33Z [Term] id: HP:0010429 name: Complete duplication of the phalanges of the 2nd toe def: "Complete duplication of a phalanx of second toe." [HPO:sdoelken] synonym: "Complete duplication of the 2nd toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023830 is_a: HP:0010355 ! Duplication of the phalanges of the 2nd toe created_by: doelkens creation_date: 2009-07-16T04:07:33Z [Term] id: HP:0010430 name: Aplasia of the phalanges of the 2nd toe alt_id: HP:0100361 synonym: "Absent 2nd toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023829 is_a: HP:0010325 ! Aplasia/Hypoplasia of the 2nd toe is_a: HP:0010347 ! Aplasia/Hypoplasia of the phalanges of the 2nd toe is_a: HP:0010745 ! Aplasia of the phalanges of the toes created_by: doelkens creation_date: 2009-07-16T04:27:29Z [Term] id: HP:0010431 name: Short phalanx of the 2nd toe alt_id: HP:0100365 def: "Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia." [HPO:probinson] synonym: "Hypoplastic/small phalanges of the 2nd toe" EXACT [] synonym: "Short 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short phalanx of the second toe" EXACT [] xref: UMLS:C4021269 is_a: HP:0010325 ! Aplasia/Hypoplasia of the 2nd toe is_a: HP:0010347 ! Aplasia/Hypoplasia of the phalanges of the 2nd toe is_a: HP:0010746 ! Hypoplasia of the phalanges of the toes created_by: doelkens creation_date: 2009-07-16T04:27:29Z [Term] id: HP:0010432 name: Absent distal phalanx of the 2nd toe def: "Absence of distal phalanx of the second toe as a result of developmental aplasia." [HPO:probinson] synonym: "Absent distal phalanx of the second toe" EXACT [] synonym: "Absent outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia of the distal phalanx of the 2nd toe" EXACT [] xref: UMLS:C4021268 is_a: HP:0010413 ! Aplasia/Hypoplasia of the distal phalanx of the 2nd toe is_a: HP:0010430 ! Aplasia of the phalanges of the 2nd toe is_a: HP:0010645 ! Aplasia of the distal phalanges of the toes created_by: doelkens creation_date: 2009-07-16T04:28:07Z [Term] id: HP:0010433 name: Short distal phalanx of the 2nd toe def: "Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia." [HPO:probinson] synonym: "Hypoplastic/small distal phalanx of the 2nd toe" EXACT [] synonym: "Short distal phalanx of the second toe" EXACT [] synonym: "Short outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021267 is_a: HP:0010413 ! Aplasia/Hypoplasia of the distal phalanx of the 2nd toe is_a: HP:0010431 ! Short phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T04:28:07Z [Term] id: HP:0010434 name: Aplasia of the middle phalanx of the 2nd toe synonym: "Absent middle bone of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023828 is_a: HP:0010404 ! Aplasia/Hypoplasia of the middle phalanx of the 2nd toe is_a: HP:0010430 ! Aplasia of the phalanges of the 2nd toe is_a: HP:0100388 ! Aplasia of the proximal phalanges of the toes created_by: doelkens creation_date: 2009-07-16T04:28:48Z [Term] id: HP:0010435 name: Short middle phalanx of the 2nd toe def: "Reduced length of the middle phalanx of second toe as a result of developmental hypoplasia." [HPO:probinson] synonym: "Hypoplastic/small middle phalanx of the 2nd toe" EXACT [] synonym: "Short middle 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short middle phalanx of the second toe" EXACT [] xref: UMLS:C4021266 is_a: HP:0010404 ! Aplasia/Hypoplasia of the middle phalanx of the 2nd toe is_a: HP:0010431 ! Short phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T04:28:48Z [Term] id: HP:0010436 name: Aplasia of the proximal phalanx of the 2nd toe synonym: "Absent innermost 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023827 is_a: HP:0010395 ! Aplasia/hypoplasia of the proximal phalanx of the 2nd toe is_a: HP:0010430 ! Aplasia of the phalanges of the 2nd toe created_by: doelkens creation_date: 2009-07-16T04:29:25Z [Term] id: HP:0010437 name: Short proximal phalanx of the 2nd toe def: "Reduced length of the proximal phalanx of second toe as a result of developmental hypoplasia." [HPO:sdoelken] synonym: "Hypoplastic/small proximal phalanx of the 2nd toe" EXACT [] synonym: "Short innermost 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short proximal phalanx of the second toe" EXACT [] xref: UMLS:C4021265 is_a: HP:0010395 ! Aplasia/hypoplasia of the proximal phalanx of the 2nd toe is_a: HP:0010431 ! Short phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T04:29:25Z [Term] id: HP:0010438 name: Abnormal ventricular septum morphology alt_id: HP:0001628 def: "A structural abnormality of the interventricular septum." [HPO:probinson] synonym: "Abnormal interventricular septum morphology" EXACT [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the ventricular septum" EXACT [] synonym: "Ventricular septum abnormality" EXACT [] xref: Fyler:1815 xref: UMLS:C4021264 is_a: HP:0001671 ! Abnormal cardiac septum morphology is_a: HP:0001713 ! Abnormal cardiac ventricle morphology created_by: doelkens creation_date: 2009-07-27T11:59:56Z [Term] id: HP:0010440 name: Ectopic accesory toe-like appendage def: "In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the fibular side of the foot, next top the little toe), preaxial (on the tibial side of the foot, next to the big toe) or mesoaxial (somewhere central, between big and little toe), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200)." [HPO:curators] xref: UMLS:C4023826 is_a: HP:0001829 ! Foot polydactyly created_by: doelkens creation_date: 2009-07-29T01:23:02Z [Term] id: HP:0010441 name: Ectopic accessory finger-like appendage def: "In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the ulnar side of the hand, next to the little finger), preaxial (on the radial side of the hand, next to the thumb) or mesoaxial (somewhere central, between thumb and little finger), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200)." [HPO:probinson] xref: UMLS:C4023825 is_a: HP:0001161 ! Hand polydactyly created_by: doelkens creation_date: 2009-07-29T01:34:47Z [Term] id: HP:0010442 name: Polydactyly alt_id: HP:0006034 alt_id: HP:0006046 alt_id: HP:0006123 alt_id: HP:0009605 def: "A congenital anomaly characterized by the presence of supernumerary fingers or toes." [HPO:probinson] synonym: "More than five fingers or toes on hands or feet" EXACT layperson [ORCID:0000-0002-6548-5200] xref: Fyler:4103 xref: MSH:D017689 xref: SNOMEDCT_US:367506006 xref: UMLS:C0152427 is_a: HP:0011297 ! Abnormal digit morphology created_by: doelkens creation_date: 2009-07-29T01:39:27Z [Term] id: HP:0010443 name: Bifid femur def: "A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side." [HPO:probinson] subset: hposlim_core synonym: "Notched thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Split thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023824 is_a: HP:0002823 ! Abnormality of femur morphology created_by: doelkens creation_date: 2009-07-29T04:29:30Z [Term] id: HP:0010444 name: Pulmonary insufficiency def: "The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole." [HPO:curators] synonym: "Pulmonary incompetence" EXACT [] synonym: "Puolmonary valve insufficiency" EXACT [] xref: MSH:D011665 xref: SNOMEDCT_US:91434003 xref: UMLS:C0034088 is_a: HP:0031654 ! Abnormal pulmonary valve physiology created_by: peter creation_date: 2009-09-14T09:54:12Z [Term] id: HP:0010445 name: Primum atrial septal defect def: "An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum." [DDD:dbrown, HPO:probinson] synonym: "Atrial septal defect, primum type" EXACT [HPO:skoehler] synonym: "Ostium primum atrial septal defect" EXACT [] synonym: "Primum atrioventricular canal defect" EXACT [] synonym: "Septum primum defect" EXACT [] xref: Fyler:1110 xref: MSH:C536112 xref: MSH:C548006 xref: SNOMEDCT_US:253373002 xref: UMLS:C0344735 xref: UMLS:C0741296 is_a: HP:0001631 ! Atrial septal defect is_a: HP:0006695 ! Atrioventricular canal defect created_by: peter creation_date: 2009-09-14T09:59:38Z [Term] id: HP:0010446 name: Tricuspid stenosis def: "A narrowing of the orifice of the tricuspid valve of the heart." [HPO:probinson, PMID:18222317] comment: Tricuspid stenosis results in characteristic changes in the jugular venous pulse in the form of leisurely V to Y descent and prominent a-waves. The liver is enlarged with a firm edge and is pulsatile in presystole. This is best appreciated with one hand on the liver edge and one on the precordium. Auscultation reveals a low- to medium-pitched diastolic rumble with inspiratory accentuation. This is usually localized to the lower sternal border. xref: EPCC:06.01.92 xref: ICD-10:Q22.4 xref: MSH:D014264 xref: SNOMEDCT_US:49915006 xref: UMLS:C0040963 is_a: HP:0031651 ! Abnormal tricuspid valve physiology created_by: peter creation_date: 2009-09-14T10:10:10Z [Term] id: HP:0010447 name: Anal fistula def: "An abnormal connection between the epithelialised surface of the anal canal and the perianal skin." [HPO:probinson] subset: hposlim_core synonym: "Fistula in ano" EXACT [] xref: MEDDRA:10002156 "Anal fistula" xref: MSH:D012003 xref: SNOMEDCT_US:72779005 xref: UMLS:C0205929 is_a: HP:0004378 ! Abnormality of the anus is_a: HP:0100819 ! Intestinal fistula created_by: peter creation_date: 2009-09-14T10:16:39Z [Term] id: HP:0010448 name: Colonic atresia def: "A developmental defect resulting in complete obliteration of the lumen of the colon. That is, there is an abnormal closure, or atresia of the tubular structure of the colon." [HPO:probinson] synonym: "Atresia of the large intestine" EXACT [] synonym: "Large intestinal atresia" EXACT [] xref: MSH:C562562 xref: SNOMEDCT_US:37054000 xref: UMLS:C0266190 is_a: HP:0002250 ! Abnormal large intestine morphology is_a: HP:0011100 ! Intestinal atresia created_by: peter creation_date: 2009-09-14T10:23:09Z [Term] id: HP:0010450 name: Esophageal stenosis def: "An abnormal narrowing of the lumen of the esophagus." [HPO:probinson] synonym: "Narrowing of the esophagus" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D004940 xref: SNOMEDCT_US:63305008 xref: UMLS:C0014866 is_a: HP:0002031 ! Abnormal esophagus morphology created_by: peter creation_date: 2009-09-14T10:42:33Z [Term] id: HP:0010451 name: Aplasia/Hypoplasia of the spleen def: "Absence or underdevelopment of the spleen." [HPO:curators] synonym: "Absent/small spleen" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped spleen" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023823 is_a: HP:0025408 ! Abnormal spleen morphology created_by: peter creation_date: 2009-09-14T10:48:29Z [Term] id: HP:0010452 name: Ectopia of the spleen def: "An abnormal (non-anatomic) location of the spleen." [HPO:curators] synonym: "Abnormal spleen location" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Ectopic spleen" EXACT [] xref: SNOMEDCT_US:65146007 xref: UMLS:C0266632 is_a: HP:0025408 ! Abnormal spleen morphology created_by: peter creation_date: 2009-09-14T10:51:09Z [Term] id: HP:0010453 name: Pelvic bone asymmetry def: "Pelvic asymmetry refers to asymmetric positioning of landmarks on the two sides of the pelvis and may have a structural or functional etiology." [HPO:probinson] subset: hposlim_core synonym: "Asymmetric pelvis" EXACT [] synonym: "Pelvic asymmetry" BROAD [HPO:skoehler] xref: UMLS:C4021263 is_a: HP:0040163 ! Abnormal pelvis bone morphology created_by: peter creation_date: 2009-09-14T11:01:50Z [Term] id: HP:0010454 name: Acetabular spurs def: "The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum." [HPO:probinson] subset: hposlim_core xref: UMLS:C3808270 is_a: HP:0003170 ! Abnormality of the acetabulum created_by: peter creation_date: 2009-09-14T11:15:40Z [Term] id: HP:0010455 name: Steep acetabular roof def: "An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance." [HPO:probinson] xref: UMLS:C3150931 is_a: HP:0003170 ! Abnormality of the acetabulum created_by: peter creation_date: 2009-09-14T11:18:20Z [Term] id: HP:0010456 name: Abnormality of the greater sacrosciatic notch def: "An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium." [HPO:curators] synonym: "Abnormality of greater sciatic notch" EXACT [] xref: UMLS:C4023822 is_a: HP:0002644 ! Abnormality of pelvic girdle bone morphology created_by: peter creation_date: 2009-09-15T08:14:32Z [Term] id: HP:0010457 name: Widening of the sacrosciatic notch def: "Abnormally increased width of the greater sacrosciatic notch." [HPO:curators] xref: UMLS:C4023821 is_a: HP:0010456 ! Abnormality of the greater sacrosciatic notch created_by: peter creation_date: 2009-09-15T08:16:32Z [Term] id: HP:0010458 name: Female pseudohermaphroditism def: "Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized." [HPO:curators] xref: MSH:D058489 xref: SNOMEDCT_US:8800006 xref: UMLS:C0238394 is_a: HP:0000055 ! Abnormality of female external genitalia created_by: peter creation_date: 2009-09-15T08:21:32Z [Term] id: HP:0010459 name: True hermaphroditism alt_id: HP:0003242 def: "The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism." [HPO:curators] synonym: "Testicular and ovarian tissue present" EXACT [] xref: MSH:D050090 xref: SNOMEDCT_US:18978002 xref: UMLS:C0266361 is_a: HP:0000062 ! Ambiguous genitalia created_by: peter creation_date: 2009-09-15T08:28:15Z [Term] id: HP:0010460 name: Abnormality of the female genitalia def: "Abnormality of the female genital system." [HPO:probinson] comment: Abnormality of the female internal or external genitalia. xref: UMLS:C4023820 is_a: HP:0012243 ! Abnormal reproductive system morphology created_by: peter creation_date: 2009-09-15T08:32:09Z [Term] id: HP:0010461 name: Abnormality of the male genitalia def: "Abnormality of the male genital system." [HPO:probinson] synonym: "Abnormal male genitals" EXACT layperson [] synonym: "Abnormality of the male genitalia" EXACT layperson [] xref: UMLS:C4023819 is_a: HP:0012243 ! Abnormal reproductive system morphology created_by: peter creation_date: 2009-09-15T08:33:20Z [Term] id: HP:0010462 name: Aplasia/Hypoplasia of the ovary def: "Aplasia or developmental hypoplasia of the ovary." [HPO:probinson] synonym: "Absent/small ovary" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped ovary" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023818 is_a: HP:0031065 ! Abnormal ovarian morphology created_by: peter creation_date: 2009-09-15T08:38:35Z [Term] id: HP:0010463 name: Aplasia of the ovary def: "Aplasia, that is failure to develop, of the ovary." [HPO:probinson] synonym: "Absent ovary" EXACT layperson [] synonym: "Aplasia of the ovaries" RELATED [] synonym: "Bilateral absent ovaries" RELATED [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:12017008 xref: UMLS:C0266368 is_a: HP:0010462 ! Aplasia/Hypoplasia of the ovary created_by: peter creation_date: 2009-09-15T08:40:06Z [Term] id: HP:0010464 name: Streak ovary def: "A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells." [HPO:probinson] xref: SNOMEDCT_US:70550008 xref: UMLS:C0266371 is_a: HP:0008724 ! Hypoplasia of the ovary created_by: peter creation_date: 2009-09-15T08:42:35Z [Term] id: HP:0010465 name: Precocious puberty in females def: "The onset of puberty before the age of 8 years in girls." [HPO:probinson] xref: SNOMEDCT_US:19911007 xref: UMLS:C0271616 is_a: HP:0000826 ! Precocious puberty created_by: peter creation_date: 2009-09-15T08:48:42Z [Term] id: HP:0010468 name: Aplasia/Hypoplasia of the testes def: "Absence or underdevelopment of the testes." [HPO:curators] synonym: "Absent/small testes" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped testes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023817 is_a: HP:0045058 ! Abnormality of the testis size created_by: peter creation_date: 2009-09-15T09:28:46Z [Term] id: HP:0010469 name: Absent testis def: "Testis not palpable in the scrotum or inguinal canal." [HPO:probinson, PMID:23650202] comment: Absence can be congenital or not (vanishing testis). Definitive assessment can only be made by imaging or surgical studies, in order to exclude an intra-abdominal testis, which should be coded as Cryptorchidism. True absence of a testis can be difficult to prove. Anorchia is true absence of both testes, and can only be determined by imaging or surgical studies. synonym: "Absence of palpable testicules" EXACT [HPO:skoehler] synonym: "Absent testes" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia of the testes" EXACT [] xref: UMLS:C4023816 is_a: HP:0010468 ! Aplasia/Hypoplasia of the testes created_by: peter creation_date: 2009-09-15T09:29:16Z [Term] id: HP:0010470 name: Supernumerary testes def: "The presence of more than two testes." [HPO:probinson] synonym: "Extra testes" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Polyorchidism" EXACT [] xref: SNOMEDCT_US:17471001 xref: UMLS:C0266430 is_a: HP:0000035 ! Abnormal testis morphology created_by: peter creation_date: 2009-09-15T09:34:18Z [Term] id: HP:0010471 name: Oligosacchariduria def: "Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins." [HPO:probinson] xref: UMLS:C4023815 is_a: HP:0031979 ! Abnormal urine carbohydrate level created_by: peter creation_date: 2009-09-15T09:48:34Z [Term] id: HP:0010472 name: Abnormal circulating porphyrin concentration def: "An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes." [HPO:curators] xref: UMLS:C4023814 is_a: HP:0032180 ! Abnormal circulating metabolite concentration created_by: peter creation_date: 2009-09-15T09:53:11Z [Term] id: HP:0010473 name: Porphyrinuria def: "Abnormally increased excretion of porphyrins in the urine." [HPO:probinson] comment: Porphyrins are natural pigments containing a fundamental skeleton of four pyrrole nuclei united through the alpha-positions by four methine groups to form a macrocyclic structure. One of the best-known porphyrins is heme. xref: SNOMEDCT_US:44574006 xref: UMLS:C0151861 is_a: HP:0003110 ! Abnormality of urine homeostasis created_by: peter creation_date: 2009-09-15T09:57:34Z [Term] id: HP:0010474 name: Bladder stones def: "Buildups of minerals that form in the urinary bladder." [HPO:probinson] xref: MSH:D001744 xref: SNOMEDCT_US:70650003 xref: UMLS:C0005683 is_a: HP:0025487 ! Abnormality of bladder morphology created_by: peter creation_date: 2009-09-15T10:03:20Z [Term] id: HP:0010475 name: Cloacal exstrophy def: "Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus." [HPO:probinson] xref: SNOMEDCT_US:20815007 xref: UMLS:C0345217 is_a: HP:0012620 ! Cloacal abnormality is_a: HP:0100548 ! Exstrophy created_by: peter creation_date: 2009-09-15T10:08:32Z [Term] id: HP:0010476 name: Aplasia/Hypoplasia of the bladder def: "Absence or underdevelopment of the urinary bladder." [HPO:probinson] synonym: "Absent/small bladder" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped bladder" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023813 is_a: HP:0025487 ! Abnormality of bladder morphology created_by: peter creation_date: 2009-09-15T10:09:48Z [Term] id: HP:0010477 name: Aplasia of the bladder def: "Aplasia (absence) of the urinary bladder." [HPO:probinson] synonym: "Absent bladder" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023812 is_a: HP:0010476 ! Aplasia/Hypoplasia of the bladder created_by: peter creation_date: 2009-09-15T10:10:19Z [Term] id: HP:0010478 name: Abnormality of the urachus def: "Abnormality of the urachus." [HPO:probinson] comment: The urachus is a vestigial embryonic structure, a canal that connects the urinary bladder of the fetus with the allantois (a structure involved in the development of the umbilical cord). During embryonic development, the lumen of the urachus is normally obliterated, transforming the urachus into a solid cord. xref: UMLS:C4023811 is_a: HP:0025487 ! Abnormality of bladder morphology created_by: peter creation_date: 2009-09-15T10:13:04Z [Term] id: HP:0010479 name: Patent urachus def: "Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus." [HPO:probinson] synonym: "Persistent urachus" EXACT [] xref: SNOMEDCT_US:398316009 xref: UMLS:C0266357 is_a: HP:0010478 ! Abnormality of the urachus created_by: peter creation_date: 2009-09-15T10:15:17Z [Term] id: HP:0010480 name: Urethral fistula def: "The presence of an abnormal connection between the urethra and another organ or the skin." [HPO:curators] xref: SNOMEDCT_US:14981000 xref: UMLS:C0041970 is_a: HP:0000795 ! Abnormality of the urethra is_a: HP:0100589 ! Urogenital fistula created_by: peter creation_date: 2009-09-15T10:37:37Z [Term] id: HP:0010481 name: Urethral valve def: "The presence of an abnormal membrane obstructing the urethra." [HPO:probinson] xref: SNOMEDCT_US:297163001 xref: UMLS:C0266345 is_a: HP:0000796 ! Urethral obstruction created_by: peter creation_date: 2009-09-15T10:38:46Z [Term] id: HP:0010482 name: Acromelia of the upper limbs def: "Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments." [HPO:curators] xref: UMLS:C4023810 is_a: HP:0010884 ! Acromelia created_by: peter creation_date: 2009-09-16T08:56:43Z [Term] id: HP:0010483 name: Amniotic constriction rings of arms def: "Amniotic constriction rings affecting the arms." [HPO:curators] xref: UMLS:C4023809 is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0009775 ! Amniotic constriction ring created_by: peter creation_date: 2009-09-16T09:15:05Z [Term] id: HP:0010484 name: Hypertrophy of the upper limb def: "Abnormal increase in size of the upper limbs (due to an increase of the size of cells)." [HPO:curators] synonym: "Increased size of upper limb" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:298745009 xref: UMLS:C0575518 is_a: HP:0002817 ! Abnormality of the upper limb created_by: peter creation_date: 2009-09-16T09:23:57Z [Term] id: HP:0010485 name: Hyperextensibility at elbow def: "The ability of the elbow joint to move beyond its normal range of motion." [HPO:curators] xref: UMLS:C4023808 is_a: HP:0001382 ! Joint hypermobility created_by: peter creation_date: 2009-09-16T10:05:52Z [Term] id: HP:0010486 name: Abnormality of the hypothenar eminence def: "An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger)." [HPO:probinson] xref: UMLS:C4023807 is_a: HP:0001421 ! Abnormality of the musculature of the hand created_by: peter creation_date: 2009-09-16T10:38:43Z [Term] id: HP:0010487 name: Small hypothenar eminence alt_id: HP:0005721 def: "Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence." [HPO:probinson, pmid:19125433] subset: hposlim_core synonym: "Hypoplasia of the hypothenar eminence" EXACT [] synonym: "Hypothenar hypoplasia" EXACT [] xref: UMLS:C1861395 is_a: HP:0010486 ! Abnormality of the hypothenar eminence created_by: peter creation_date: 2009-09-16T10:40:18Z [Term] id: HP:0010488 name: Aplasia/Hypoplasia of the palmar creases def: "Absence or underdevelopment of the palmar creases." [HPO:curators] synonym: "Absent/small palm crease" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped palm crease" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023806 is_a: HP:0010490 ! Abnormality of the palmar creases created_by: peter creation_date: 2009-09-16T10:53:24Z [Term] id: HP:0010489 name: Absent palmar crease def: "The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease)." [HPO:probinson, pmid:19125433] subset: hposlim_core synonym: "Absence of the palmar creases" EXACT [] synonym: "Absent palm lines" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia of the palmar creases" EXACT [] xref: UMLS:C4021262 is_a: HP:0010488 ! Aplasia/Hypoplasia of the palmar creases created_by: peter creation_date: 2009-09-16T10:54:09Z [Term] id: HP:0010490 name: Abnormality of the palmar creases def: "An abnormality of the creases of the skin of palm of hand." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the palm lines" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:205557000 xref: UMLS:C0221199 is_a: HP:0001018 ! Abnormal palmar dermatoglyphics created_by: peter creation_date: 2009-09-16T10:54:52Z [Term] id: HP:0010491 name: Digital constriction ring def: "A narrow segment of significantly reduced circumference of a digit." [pmid:19125433] comment: The description should specify the hand and digit that is affected and the approximate location of the band relative to the phalanges. It may be described as partial, if it does not involve the entire circumference of the digit. subset: hposlim_core synonym: "Amniotic constriction rings of digits" EXACT [] xref: UMLS:C4021261 is_a: HP:0009775 ! Amniotic constriction ring created_by: peter creation_date: 2009-09-16T11:08:16Z [Term] id: HP:0010492 name: Osseous finger syndactyly def: "Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \"Symphalangism\"." [HPO:sdoelken] subset: hposlim_core synonym: "Osseous syndactyly of the fingers" EXACT [] xref: SNOMEDCT_US:2560006 xref: UMLS:C0158736 is_a: HP:0006101 ! Finger syndactyly created_by: peter creation_date: 2009-09-16T11:20:38Z [Term] id: HP:0010493 name: Long metacarpals def: "An abnormally increased length of the metacarpal bones." [HPO:probinson] subset: hposlim_core synonym: "Elongated long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased length of metacarpals" EXACT [] xref: UMLS:C4021260 is_a: HP:0005916 ! Abnormal metacarpal morphology created_by: peter creation_date: 2009-09-17T10:25:37Z [Term] id: HP:0010494 name: Acromelia of the lower limbs def: "Shortening of the legs predominantly affecting terminal parts of the leg in relation to the upper and middle arm segments." [HPO:probinson] xref: UMLS:C4023805 is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs is_a: HP:0010884 ! Acromelia created_by: peter creation_date: 2009-09-17T11:04:51Z [Term] id: HP:0010495 name: Amniotic constriction rings of legs def: "Amniotic constriction rings affecting the legs." [HPO:probinson] xref: UMLS:C4023804 is_a: HP:0002814 ! Abnormality of the lower limb is_a: HP:0009775 ! Amniotic constriction ring created_by: peter creation_date: 2009-09-17T11:07:10Z [Term] id: HP:0010496 name: Hypertrophy of the lower limb def: "Abnormal increase in size of the lower limbs (due to an increase of the size of cells)." [HPO:curators] xref: UMLS:C4023803 is_a: HP:0002814 ! Abnormality of the lower limb created_by: peter creation_date: 2009-09-17T11:08:38Z [Term] id: HP:0010497 name: Sirenomelia def: "A developmental defect in which the legs are fused together." [HPO:probinson] subset: hposlim_core synonym: "Sympodia" RELATED [] xref: MEDDRA:10049216 "Sympodia" xref: MSH:D004480 xref: SNOMEDCT_US:253191000 xref: SNOMEDCT_US:67254002 xref: SNOMEDCT_US:91089008 xref: UMLS:C0037205 is_a: HP:0002814 ! Abnormality of the lower limb created_by: peter creation_date: 2009-09-17T11:11:10Z [Term] id: HP:0010498 name: Bipartite patella def: "A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood." [HPO:probinson] subset: hposlim_core xref: SNOMEDCT_US:79214007 xref: UMLS:C0265666 is_a: HP:0003045 ! Abnormal patella morphology created_by: peter creation_date: 2009-09-17T11:39:39Z [Term] id: HP:0010499 name: Patellar subluxation def: "The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella." [HPO:curators] synonym: "Partial knee cap dislocation" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Subluxation of patella" EXACT [] xref: UMLS:C0857276 is_a: HP:0003045 ! Abnormal patella morphology created_by: peter creation_date: 2009-09-17T11:46:41Z [Term] id: HP:0010500 name: Hyperextensibility of the knee def: "The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh)." [HPO:probinson] xref: UMLS:C4023802 is_a: HP:0002815 ! Abnormality of the knee created_by: peter creation_date: 2009-09-19T09:44:04Z [Term] id: HP:0010501 name: Limitation of knee mobility alt_id: HP:0005030 alt_id: HP:0005192 def: "An abnormal limitation of knee joint mobility." [HPO:curators] synonym: "Limitation of knee mobility" EXACT layperson [] synonym: "Limited knee movement" EXACT layperson [] xref: UMLS:C4021259 is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0002815 ! Abnormality of the knee created_by: peter creation_date: 2009-09-19T09:44:33Z [Term] id: HP:0010502 name: Fibular bowing def: "A bending or abnormal curvature of the fibula." [HPO:probinson] comment: A developmental defect with posteromedial fibular angulation. synonym: "Bowed calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023801 is_a: HP:0002979 ! Bowing of the legs is_a: HP:0002991 ! Abnormality of fibula morphology created_by: peter creation_date: 2009-09-19T09:45:18Z [Term] id: HP:0010503 name: Fibular duplication def: "Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition." [HPO:probinson] subset: hposlim_core synonym: "Duplicated calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3276742 is_a: HP:0002991 ! Abnormality of fibula morphology created_by: peter creation_date: 2009-09-19T09:45:58Z [Term] id: HP:0010504 name: Increased length of the tibia def: "An abnormal increase in the length of the tibia." [HPO:curators] synonym: "Increased length of shankbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased length of shinbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021864 is_a: HP:0002992 ! Abnormality of tibia morphology created_by: peter creation_date: 2009-09-19T09:46:37Z [Term] id: HP:0010505 name: Limitation of movement at ankles def: "An abnormal limitation of the mobility of the ankle joint." [HPO:curators] xref: UMLS:C4023800 is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0003028 ! Abnormality of the ankles created_by: peter creation_date: 2009-09-19T09:47:11Z [Term] id: HP:0010506 name: Abnormal plantar dermatoglyphics def: "An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot." [HPO:probinson] synonym: "Abnormal dermatoglyphics on feet" EXACT [] synonym: "Abnormal prints on feet" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021258 is_a: HP:0007477 ! Abnormal dermatoglyphics is_a: HP:0100872 ! Abnormality of the plantar skin of foot created_by: peter creation_date: 2009-09-19T09:47:44Z [Term] id: HP:0010507 name: Foot asymmetry def: "A difference in size or shape between the left and right foot." [HPO:curators] xref: UMLS:C4023799 is_a: HP:0001760 ! Abnormality of the foot created_by: peter creation_date: 2009-09-19T09:49:04Z [Term] id: HP:0010508 name: Metatarsus valgus def: "A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight." [HPO:curators] xref: MSH:D000070591 xref: UMLS:C4082144 is_a: HP:0001832 ! Abnormal metatarsal morphology created_by: peter creation_date: 2009-09-19T09:59:48Z [Term] id: HP:0010509 name: Aplasia of the tarsal bones def: "Absence of the tarsal bones." [HPO:curators] synonym: "Absent ankle bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent tarsals" EXACT [] xref: UMLS:C4021257 is_a: HP:0008363 ! Aplasia/Hypoplasia of the tarsal bones created_by: peter creation_date: 2009-09-19T10:05:13Z [Term] id: HP:0010510 name: Hypermobility of toe joints def: "An ability of the toe joints to move beyond their normal range of motion." [HPO:curators] xref: UMLS:C4023798 is_a: HP:0001780 ! Abnormality of toe created_by: peter creation_date: 2009-09-19T10:15:12Z [Term] id: HP:0010511 name: Long toe def: "Digits that appear disproportionately long compared to the foot." [HPO:probinson, pmid:19125433] comment: This finding must be distinguished from digits that are thin but of normal length and that of a short mid and hind foot with normal digit lengths. The affected digits should be specified. If only a subset of the digits of a limb is lengthened, the affected digits should be specified. subset: hposlim_core synonym: "Increased length of toes" EXACT layperson [] synonym: "Long toe" EXACT layperson [] synonym: "Long toes" EXACT layperson [] xref: UMLS:C3150613 is_a: HP:0001780 ! Abnormality of toe created_by: peter creation_date: 2009-09-19T10:40:43Z [Term] id: HP:0010512 name: Adrenal calcification def: "Calcification within the adrenal glands." [HPO:probinson] comment: This condition may occur in a wide variety of pathologies, some serious and some with no obvious consequence. Adrenal hemorrhage may be detected as an incidental finding in children in radiographic studies of the abdomen. Etiologies include hemorrhage into the adrenals at or immediately after birth, neuroblastoma, ganglioneuroblastoma, cortical carcinoma, pheochromocytoma, and cysts. xref: SNOMEDCT_US:12286000 xref: UMLS:C0271750 is_a: HP:0010766 ! Ectopic calcification is_a: HP:0011732 ! Abnormality of adrenal morphology created_by: peter creation_date: 2009-09-19T03:34:26Z [Term] id: HP:0010513 name: Pituitary calcification def: "Deposition of calcium salts in the pituitary gland." [HPO:probinson] xref: UMLS:C4023797 is_a: HP:0002514 ! Cerebral calcification is_a: HP:0011747 ! Abnormality of the anterior pituitary created_by: peter creation_date: 2009-09-19T04:09:21Z [Term] id: HP:0010514 name: Hyperpituitarism def: "Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma." [HPO:probinson] xref: MSH:D006964 xref: SNOMEDCT_US:10649000 xref: UMLS:C0020506 is_a: HP:0011747 ! Abnormality of the anterior pituitary created_by: peter creation_date: 2009-09-19T04:14:54Z [Term] id: HP:0010515 name: Aplasia/Hypoplasia of the thymus def: "Absence or underdevelopment of the thymus." [HPO:probinson] synonym: "Absent/small thymus" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped thymus" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Thymic hypoplasia or aplasia" RELATED [HPO:skoehler] xref: UMLS:C3278004 xref: UMLS:C4023796 is_a: HP:0000777 ! Abnormality of the thymus created_by: peter creation_date: 2009-09-19T04:21:24Z [Term] id: HP:0010516 name: Thymus hyperplasia def: "Enlargement of the thymus." [HPO:curators] synonym: "Enlarged thymus" EXACT layperson [] synonym: "Thymic hyperplasia" EXACT [] xref: MSH:D013952 xref: UMLS:C0040115 is_a: HP:0000777 ! Abnormality of the thymus created_by: peter creation_date: 2009-09-19T04:23:10Z [Term] id: HP:0010517 name: Ectopic thymus tissue def: "The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend." [HPO:curators] synonym: "Abnormal thymus position" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023795 is_a: HP:0000777 ! Abnormality of the thymus created_by: peter creation_date: 2009-09-19T04:30:35Z [Term] id: HP:0010518 name: Thyroglossal cyst def: "An abnormality of the thyroid gland owing to the presence of a fibrous cyst resulting from the persistence of the thyroglossal duct." [HPO:probinson] comment: A developmental defect resulting in the presence of a thyroglossal cyst, a fibrous cyst that forms from a persistent thyroglossal duct. During the embryologic development of the thyroid gland, the precursor of the thyroid migrates from the base of the tongue inferiorly though the thyroglossal duct. This duct normally disappears following the development and migration of the thyroid gland, but if a portion of the duct remain it can form a thyroglossal cyst. subset: hposlim_core synonym: "Thyroglossal duct cyst" EXACT [] xref: MSH:D013955 xref: SNOMEDCT_US:39462005 xref: UMLS:C0040124 is_a: HP:0011772 ! Abnormality of thyroid morphology created_by: peter creation_date: 2009-09-19T04:38:04Z [Term] id: HP:0010519 name: Increased fetal movement def: "An abnormal increase in quantity or strength of fetal movements." [HPO:curators] synonym: "Fetal hyperkinesia" EXACT [] xref: UMLS:C4021256 is_a: HP:0001557 ! Prenatal movement abnormality created_by: peter creation_date: 2009-09-20T10:44:15Z [Term] id: HP:0010521 name: Gait apraxia def: "Gait apraxia affecting the ability to make walking movements with the legs." [HPO:curators] xref: MSH:D020235 xref: SNOMEDCT_US:30767006 xref: UMLS:C1510417 is_a: HP:0001288 ! Gait disturbance is_a: HP:0002186 ! Apraxia created_by: peter creation_date: 2009-09-20T11:01:35Z [Term] id: HP:0010522 name: Dyslexia alt_id: HP:0006871 def: "A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent)." [HPO:probinson] synonym: "Reading disability" EXACT layperson [] xref: MSH:D004410 xref: SNOMEDCT_US:52824009 xref: SNOMEDCT_US:59770006 xref: SNOMEDCT_US:9236007 xref: UMLS:C0476254 is_a: HP:0001328 ! Specific learning disability created_by: peter creation_date: 2009-09-20T11:19:24Z [Term] id: HP:0010523 name: Alexia def: "An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read." [HPO:probinson] comment: Note that dyslexia refers to a developmental reading disability, whereas alexi arefers to an acquired reading disability related to damage to the brain in an individual in whom reading ability had previously been developed. synonym: "Text blindness" EXACT layperson [] synonym: "Word blindness" EXACT layperson [] xref: MSH:D004410 xref: SNOMEDCT_US:9236007 xref: UMLS:C0002018 is_a: HP:0002167 ! Neurological speech impairment created_by: peter creation_date: 2009-09-20T11:27:07Z [Term] id: HP:0010524 name: Agnosia def: "Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions." [HPO:probinson] xref: MSH:D000377 xref: SNOMEDCT_US:42341009 xref: UMLS:C0001816 is_a: HP:0011446 ! Abnormality of higher mental function created_by: peter creation_date: 2009-09-20T11:33:03Z [Term] id: HP:0010525 name: Finger agnosia def: "An inability or difficulty differentiating among the fingers of either hand as well as the hands of others." [HPO:curators] xref: MSH:D000377 xref: SNOMEDCT_US:3449007 xref: UMLS:C0234509 is_a: HP:0010524 ! Agnosia created_by: peter creation_date: 2009-09-20T11:37:33Z [Term] id: HP:0010526 name: Dysgraphia def: "A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment." [HPO:curators] xref: MSH:D000381 xref: SNOMEDCT_US:88278002 xref: UMLS:C0234144 is_a: HP:0002167 ! Neurological speech impairment created_by: peter creation_date: 2009-09-20T11:40:43Z [Term] id: HP:0010527 name: Astereognosia def: "Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit." [HPO:probinson] synonym: "Astereognosis" EXACT [] synonym: "Somatosensory agnosia" EXACT [] xref: MSH:D000377 xref: SNOMEDCT_US:25094008 xref: UMLS:C0234505 is_a: HP:0010524 ! Agnosia is_a: HP:0011730 ! Abnormality of central sensory function created_by: peter creation_date: 2009-09-20T11:41:58Z [Term] id: HP:0010528 name: Prosopagnosia def: "Inability to recognize faces of familiar persons." [HPO:probinson] synonym: "Face blindness" EXACT layperson [] synonym: "Facial agnosia" EXACT [] xref: MSH:D020238 xref: SNOMEDCT_US:18358003 xref: UMLS:C0234512 is_a: HP:0010524 ! Agnosia created_by: peter creation_date: 2009-09-20T11:45:49Z [Term] id: HP:0010529 name: Echolalia def: "The tendency to repeat vocalizations made by another person." [HPO:curators] synonym: "Echoing another person's speech" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Echologia" EXACT [ORCID:0000-0001-6908-9849] synonym: "Echophrasia" EXACT [ORCID:0000-0001-6908-9849] synonym: "Repeated speech" BROAD layperson [ORCID:0000-0001-6908-9849] xref: MSH:D004454 xref: SNOMEDCT_US:64712007 xref: UMLS:C0013528 xref: UMLS:C4280380 is_a: HP:0000708 ! Behavioral abnormality is_a: HP:0002167 ! Neurological speech impairment created_by: peter creation_date: 2009-09-20T08:17:27Z [Term] id: HP:0010530 name: Palatal myoclonus def: "Palatal myoclonus is characterized by myoclonic (rhythmic involuntary jerky) movements of the soft palate." [HPO:probinson] xref: MSH:D009207 xref: SNOMEDCT_US:9366002 xref: UMLS:C0030214 is_a: HP:0001336 ! Myoclonus created_by: peter creation_date: 2009-09-20T08:50:17Z [Term] id: HP:0010531 name: Spinal myoclonus def: "Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia." [HPO:curators] xref: SNOMEDCT_US:698836007 xref: UMLS:C3697670 is_a: HP:0001336 ! Myoclonus created_by: peter creation_date: 2009-09-20T08:53:39Z [Term] id: HP:0010532 name: Paroxysmal vertigo def: "Paroxysmal episodes of vertigo." [HPO:curators] xref: MSH:D014717 xref: SNOMEDCT_US:103290003 xref: UMLS:C0522357 is_a: HP:0002321 ! Vertigo created_by: peter creation_date: 2009-09-20T09:12:15Z [Term] id: HP:0010533 name: Spasmus nutans def: "The combination of pendular nystagmus, head nodding, and torticollis." [HPO:probinson, pmid:7499100] xref: MSH:D013036 xref: SNOMEDCT_US:18191000 xref: UMLS:C0546878 is_a: HP:0012043 ! Pendular nystagmus created_by: peter creation_date: 2009-09-20T09:19:57Z [Term] id: HP:0010534 name: Transient global amnesia def: "A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information." [HPO:curators] xref: MSH:D020236 xref: SNOMEDCT_US:230736007 xref: UMLS:C0338591 is_a: HP:0002354 ! Memory impairment created_by: peter creation_date: 2009-09-20T09:33:50Z [Term] id: HP:0010535 name: Sleep apnea def: "An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep." [HPO:curators] synonym: "Pauses in breathing while sleeping" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Sleep apnoea" EXACT [] xref: MSH:D012891 xref: SNOMEDCT_US:73430006 xref: UMLS:C0037315 is_a: HP:0002104 ! Apnea is_a: HP:0002360 ! Sleep disturbance created_by: peter creation_date: 2009-09-21T08:53:35Z [Term] id: HP:0010536 name: Central sleep apnea def: "Sleep apnea resulting from a transient abolition of the central drive to the ventilatory muscles." [HPO:probinson] synonym: "Central sleep apnoea" EXACT [] xref: MSH:D020182 xref: UMLS:C0520680 is_a: HP:0010535 ! Sleep apnea created_by: peter creation_date: 2009-09-21T08:57:02Z [Term] id: HP:0010537 name: Wide cranial sutures def: "An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure)." [HPO:probinson] subset: hposlim_core synonym: "Broad cranial sutures" EXACT [ORCID:0000-0001-5889-4463] synonym: "Large cranial suture" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "open cranial sutures" EXACT [] synonym: "Persistent open cranial sutures" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Widened cranial sutures" EXACT [] xref: SNOMEDCT_US:268855009 xref: UMLS:C0410935 is_a: HP:0011329 ! Abnormality of cranial sutures created_by: peter creation_date: 2009-09-21T09:50:28Z [Term] id: HP:0010538 name: Small sella turcica def: "An abnormally small sella turcica." [HPO:curators] subset: hposlim_core synonym: "Hypoplasia of hypophseal fossa" NARROW [ORCID:0000-0001-5889-4463] synonym: "Hypoplasia of pituitary fossa" NARROW [ORCID:0000-0001-5889-4463] synonym: "Hypoplasia of sella turcica" EXACT [ORCID:0000-0001-5889-4463] synonym: "Small hypophyseal fossa" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Small pituitary fossa" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023794 xref: UMLS:C4072875 xref: UMLS:C4072876 is_a: HP:0002679 ! Abnormality of the sella turcica created_by: peter creation_date: 2009-09-21T10:19:05Z [Term] id: HP:0010539 name: Thin calvarium def: "The presence of an abnormally thin calvarium." [HPO:probinson] subset: hposlim_core synonym: "Thin cranial bone" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Thin skull bone" BROAD layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1856231 xref: UMLS:C4280379 is_a: HP:0002683 ! Abnormality of the calvaria created_by: peter creation_date: 2009-09-21T10:21:29Z [Term] id: HP:0010540 name: Advanced pneumatization of cranial sinuses def: "A degree of pneumatization that is increased compared to age-related norms." [HPO:probinson] xref: UMLS:C4023793 is_a: HP:0000245 ! Abnormality of the paranasal sinuses created_by: peter creation_date: 2009-09-23T10:04:21Z [Term] id: HP:0010541 name: Cutis gyrata of scalp def: "The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction." [HPO:probinson] synonym: "Cutis verticis gyrata" EXACT [] synonym: "Furrows in thickened skin on top of scalp" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Scalp folds" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Scalp furrows" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Thickened folds on top of scalp" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Thickening of the scalp" RELATED layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:51603000 xref: UMLS:C0263417 xref: UMLS:C4072877 xref: UMLS:C4280378 is_a: HP:0001965 ! Abnormality of the scalp is_a: HP:0011356 ! Regional abnormality of skin created_by: peter creation_date: 2009-09-23T10:15:33Z [Term] id: HP:0010542 name: Vestibular nystagmus def: "Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components." [HPO:curators] xref: SNOMEDCT_US:46888001 xref: UMLS:C0155379 is_a: HP:0000639 ! Nystagmus is_a: HP:0009591 ! Abnormality of the vestibulocochlear nerve created_by: peter creation_date: 2009-09-23T10:38:28Z [Term] id: HP:0010543 name: Opsoclonus def: "Bursts of large-amplitude multidirectional saccades without intersaccadic interval" [HPO:probinson, UManchester:psergouniotis] comment: Spontaneous, non-rhythmic, multi-directional, chaotic movements of the eyes, giving the appearance of agitation. There may be bursts of conjugate movement of the eyes in varying directions and of varying amplitude. xref: MSH:D015835 xref: SNOMEDCT_US:194177006 xref: UMLS:C0242567 is_a: HP:0012547 ! Abnormal involuntary eye movements is_a: HP:0032104 ! Saccadic oscillation created_by: peter creation_date: 2009-09-23T10:40:51Z [Term] id: HP:0010544 name: Vertical nystagmus def: "Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus." [HPO:probinson] subset: hposlim_core xref: MSH:D009759 xref: SNOMEDCT_US:111533001 xref: UMLS:C0271386 is_a: HP:0000639 ! Nystagmus created_by: peter creation_date: 2009-09-23T10:45:18Z [Term] id: HP:0010545 name: Downbeat nystagmus def: "Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone." [HPO:probinson, pmid:21505601] xref: SNOMEDCT_US:307676006 xref: UMLS:C0585544 is_a: HP:0010544 ! Vertical nystagmus created_by: peter creation_date: 2009-09-23T10:47:44Z [Term] id: HP:0010546 name: Muscle fibrillation def: "Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG." [HPO:probinson] synonym: "Twitching" RELATED layperson [] xref: SNOMEDCT_US:41405005 xref: UMLS:C0231531 is_a: HP:0100022 ! Abnormality of movement created_by: peter creation_date: 2009-09-29T08:23:48Z [Term] id: HP:0010547 name: Muscle flaccidity def: "A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation." [HPO:curators] xref: MSH:D009123 xref: SNOMEDCT_US:186611004 xref: SNOMEDCT_US:397488002 xref: UMLS:C0026825 is_a: HP:0001324 ! Muscle weakness created_by: peter creation_date: 2009-09-29T09:21:45Z [Term] id: HP:0010548 name: Percussion myotonia alt_id: HP:0004304 def: "A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object)." [HPO:curators] synonym: "Transient swelling of muscle induced by percussion" EXACT [] xref: MSH:D009222 xref: UMLS:C0751359 is_a: HP:0002486 ! Myotonia created_by: peter creation_date: 2009-10-01T08:15:50Z [Term] id: HP:0010549 name: Weakness due to upper motor neuron dysfunction def: "Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons." [HPO:probinson] synonym: "Paralysis due to lesions of the principle motor tracts" EXACT [] xref: UMLS:C4021255 is_a: HP:0002493 ! Upper motor neuron dysfunction created_by: peter creation_date: 2009-10-01T08:30:25Z [Term] id: HP:0010550 name: Paraplegia def: "Severe or complete weakness of both lower extremities with sparing of the upper extremities." [HPO:probinson] synonym: "Leg paralysis" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D010264 xref: SNOMEDCT_US:60389000 xref: UMLS:C0030486 is_a: HP:0010551 ! Paraplegia/paraparesis created_by: peter creation_date: 2009-10-01T08:32:57Z [Term] id: HP:0010551 name: Paraplegia/paraparesis def: "Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength." [HPO:curators] xref: UMLS:C4023792 is_a: HP:0010549 ! Weakness due to upper motor neuron dysfunction created_by: peter creation_date: 2009-10-01T08:36:05Z [Term] id: HP:0010553 name: Oculogyric crisis def: "An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications." [HPO:curators] xref: SNOMEDCT_US:5332004 xref: UMLS:C0085637 is_a: HP:0001332 ! Dystonia created_by: peter creation_date: 2009-10-01T08:56:39Z [Term] id: HP:0010554 name: Cutaneous finger syndactyly alt_id: HP:0001214 alt_id: HP:0005637 alt_id: HP:0006054 alt_id: HP:0006220 def: "A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers." [pmid:19125433] comment: We have set an arguably arbitrary threshold to distinguish the object form the subjective finding. While severe degrees of cutaneous syndactyly are clearly objective, more subtle degrees are subjective. We set this threshold to distinguish these two situations. The digits (or parts of) are joined together by tissue that is not normally present between the digits at that point in the P/D axis. A modifier of "complete" may be used if the cutaneous syndactyly extends to the distal end of the nail bed of the digits. The affected digits should be specified. Note that the unqualified term "syndactyly" is no longer allowed as it is unclear whether this refers to bony or cutaneous syndactyly. subset: hposlim_core synonym: "Cutaneous syndactyly of fingers" EXACT [] synonym: "Cutaneous syndactyly of hands" EXACT [] synonym: "Webbed fingers" EXACT layperson [pmid:16200145] synonym: "Webbed skin of fingers" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021254 is_a: HP:0006101 ! Finger syndactyly is_a: HP:0012725 ! Cutaneous syndactyly created_by: sandra1 creation_date: 2009-10-07T10:59:57Z [Term] id: HP:0010557 name: Overlapping fingers def: "A finger resting on the dorsal surface of an adjacent digit when the hand is at rest." [HPO:probinson, pmid:19125433] comment: Overlapping of the fingers occurring as the result of a deviation of the fingers from their normal position. Fingers that are laterally deviated, but do not rest on top of adjacent fingers should be coded as Clinodactyly. subset: hposlim_core xref: UMLS:C1446712 is_a: HP:0004097 ! Deviation of finger is_a: HP:0005922 ! Abnormal hand morphology created_by: sandra1 creation_date: 2009-10-13T09:21:52Z [Term] id: HP:0010558 name: Abnormality of the clivus def: "An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum." [HPO:curators] xref: UMLS:C4023791 is_a: HP:0000932 ! Abnormality of the posterior cranial fossa created_by: peter creation_date: 2009-10-14T09:37:19Z [Term] id: HP:0010559 name: Vertical clivus def: "An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum)." [HPO:curators] xref: UMLS:C1844702 is_a: HP:0010558 ! Abnormality of the clivus created_by: peter creation_date: 2009-10-14T09:39:04Z [Term] id: HP:0010560 name: Undulate clavicles def: "An abnormally wavy surface or edge of the clavicles." [HPO:curators] synonym: "Wavy clavicles" EXACT [] synonym: "Wavy collarbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021253 is_a: HP:0000889 ! Abnormality of the clavicle created_by: peter creation_date: 2009-10-14T09:52:46Z [Term] id: HP:0010561 name: Undulate ribs def: "An abnormally wavy surface or edge of the ribs." [HPO:probinson] synonym: "Wavy ribs" EXACT layperson [] xref: UMLS:C1969185 is_a: HP:0000772 ! Abnormality of the ribs created_by: peter creation_date: 2009-10-14T09:56:07Z [Term] id: HP:0010562 name: Keloids subset: hposlim_core xref: MEDDRA:10023330 "Keloid scar" xref: MSH:D007627 xref: SNOMEDCT_US:33659008 xref: SNOMEDCT_US:58405006 xref: UMLS:C0022548 is_a: HP:0000987 ! Atypical scarring of skin created_by: peter creation_date: 2009-10-15T07:39:56Z [Term] id: HP:0010564 name: Bifid epiglottis def: "A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation." [HPO:curators] xref: SNOMEDCT_US:232412004 xref: UMLS:C0339864 is_a: HP:0005483 ! Abnormal epiglottis morphology created_by: sandra1 creation_date: 2009-10-16T02:20:48Z [Term] id: HP:0010565 name: Aplasia/Hypoplasia of the Epiglottis def: "This term applies if the Epiglottis is absent or hypoplastic." [HPO:curators] xref: UMLS:C4023790 is_a: HP:0005483 ! Abnormal epiglottis morphology created_by: sandra1 creation_date: 2009-10-16T02:27:31Z [Term] id: HP:0010566 name: Hamartoma def: "A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma." [HPO:curators] xref: MSH:D006222 xref: SNOMEDCT_US:400006008 xref: SNOMEDCT_US:51398009 xref: UMLS:C0018552 is_a: HP:0011792 ! Neoplasm by histology created_by: sandra1 creation_date: 2009-10-16T02:51:16Z [Term] id: HP:0010567 name: Y-shaped metatarsals def: "Y-shaped metatarsals are the result of a partial fusion of two metatarsal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metatarsals may be seen in combination with polydactyly." [HPO:curators] synonym: "Y-shaped long bone of foot" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4023789 is_a: HP:0001832 ! Abnormal metatarsal morphology created_by: sandra1 creation_date: 2009-10-16T06:50:11Z [Term] id: HP:0010568 name: Hamartoma of the eye def: "A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye." [HPO:probinson] xref: UMLS:C4023788 is_a: HP:0010566 ! Hamartoma is_a: HP:0030670 ! Hamartoma of the orbital region is_a: HP:0100012 ! Neoplasm of the eye created_by: sandra1 creation_date: 2009-10-17T12:57:24Z [Term] id: HP:0010569 name: Elevated 7-dehydrocholesterol def: "Elevated 7-dehydrocholesterol levels." [HPO:probinson] comment: Elevated 7-dehydrocholesterol levels occur as the result of a deficiency of the enzyme delta-7-sterol reductase, the penultimate enzyme of mammalian sterol biosynthesis that converts 7-dehydrocholesterol (7-DHC) to cholesterol. This enzyme removes the C(7-8) double bond introduced by the sterol delta8-delta7 isomerases. In addition, its role in drug-induced malformations is known: inhibitors of the last step of cholesterol biosynthesis such as AY9944 and BM15766 severely impair brain development. Homozygous mutations in the gene encoding for this enzyme are the molecular genetic cause of Smith-Lemli-Opitz Syndrome. synonym: "Elevated levels of cholesta-5,7-dien-3beta-ol" EXACT [] xref: UMLS:C1849185 is_a: HP:0003107 ! Abnormal circulating cholesterol concentration created_by: sandra1 creation_date: 2009-10-19T08:49:58Z [Term] id: HP:0010570 name: Low maternal serum alpha-fetoprotein def: "An abnormally low concentration of serum alpha-fetoprotein as compared to normal values for gestational-age." [HPO:probinson] comment: Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome. synonym: "Low maternal serum alpha-fetoprotein" EXACT layperson [] xref: UMLS:C4023787 is_a: HP:0011436 ! Abnormal maternal serum screening created_by: peter creation_date: 2009-10-20T07:01:24Z [Term] id: HP:0010571 name: Elevated levels of phytanic acid def: "An abnormal elevation of phytanic acid." [HPO:curators] comment: Phytanic acid (3,7,11,15-tetramethyl hexadecanoic acid) is a fatty acid that is derived from chlorophyll and present in the diet. The metabolism of phytanic acid involves alpha-oxidation in the peroxisome, which converts phytanic acid to pristanic acid. Peroxisomes involved in the catabolism of very long chain fatty acids and phytanic acid. Peroxisomal malfunctioning can lead to over-accumulation of very long chain fatty acids and phytanic acid, among other things. synonym: "Elevated levels of phytanic acid" EXACT layperson [] xref: UMLS:C4023786 is_a: HP:0010965 ! Abnormal circulating phytanic acid level created_by: peter creation_date: 2009-10-20T07:19:29Z [Term] id: HP:0010574 name: Abnormality of the epiphysis of the femoral head alt_id: HP:0010589 def: "Any abnormality of the proximal epiphysis of the femur." [HPO:sdoelken] comment: Note that the proximal epiphysis of the femur is often referred to as the capital femoral epiphysis from the Latin word caput for head. synonym: "Abnormality of the end part of the innermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the proximal femoral epiphysis" EXACT [] xref: UMLS:C4021252 is_a: HP:0003368 ! Abnormality of the femoral head is_a: HP:0006499 ! Abnormality of femoral epiphysis created_by: sandra1 creation_date: 2009-10-21T01:28:23Z [Term] id: HP:0010575 name: Dysplasia of the femoral head def: "The presence of developmental dysplasia of the femoral head." [HPO:probinson] synonym: "Abnormality of femoral head development" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Dysplastic femoral head" EXACT [] xref: UMLS:C4021251 xref: UMLS:C4280377 is_a: HP:0003368 ! Abnormality of the femoral head created_by: sandra1 creation_date: 2009-10-21T01:30:40Z [Term] id: HP:0010576 name: Intracranial cystic lesion def: "A cystic lesion originating within the brain." [HPO:probinson] synonym: "Cerebral cystic malformation" EXACT [] xref: UMLS:C4021250 is_a: HP:0030724 ! Central nervous system cyst created_by: sandra1 creation_date: 2009-10-22T01:38:49Z [Term] id: HP:0010577 name: Absent epiphyses synonym: "Absent end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021862 is_a: HP:0005930 ! Abnormality of epiphysis morphology created_by: sandra1 creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010578 name: Bracket epiphyses synonym: "Bracket shaped end part of long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023785 is_a: HP:0005930 ! Abnormality of epiphysis morphology created_by: sandra1 creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010579 name: Cone-shaped epiphysis alt_id: HP:0000937 alt_id: HP:0006078 def: "Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery." [HPO:probinson] synonym: "Cone-shaped end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cone-shaped epiphyses" EXACT [] xref: UMLS:C1865037 is_a: HP:0005930 ! Abnormality of epiphysis morphology created_by: sandra1 creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010580 name: Enlarged epiphyses alt_id: HP:0003018 alt_id: HP:0003055 alt_id: HP:0005082 def: "Increased size of epiphyses." [HPO:probinson] synonym: "Large end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Large epiphyses" EXACT [] synonym: "Widened, distorted epiphyses" EXACT [] xref: UMLS:C1833328 is_a: HP:0005930 ! Abnormality of epiphysis morphology created_by: sandra1 creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010582 name: Irregular epiphyses alt_id: HP:0002765 alt_id: HP:0003039 alt_id: HP:0005007 alt_id: HP:0005023 alt_id: HP:0005749 alt_id: HP:0010581 def: "An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance." [HPO:probinson] synonym: "Irregular end part of long bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1846449 is_a: HP:0005930 ! Abnormality of epiphysis morphology created_by: sandra1 creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010583 name: Ivory epiphyses def: "Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:sdoelken] synonym: "Epiphyseal sclerosis" EXACT [] synonym: "Increased bone density in end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1856911 is_a: HP:0005930 ! Abnormality of epiphysis morphology created_by: sandra1 creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010584 name: Pseudoepiphyses xref: UMLS:C1841685 is_a: HP:0005930 ! Abnormality of epiphysis morphology created_by: sandra1 creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010585 name: Small epiphyses alt_id: HP:0005730 def: "Reduction in the size or volume of epiphyses." [HPO:probinson] synonym: "Small end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1846803 is_a: HP:0005930 ! Abnormality of epiphysis morphology created_by: sandra1 creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010587 name: Triangular epiphyses synonym: "Triangular end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023784 is_a: HP:0005930 ! Abnormality of epiphysis morphology created_by: sandra1 creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010588 name: Premature epimetaphyseal fusion def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [HPO:probinson, pmid:12624140] comment: The epiphysis is the rounded end of a long bone, at its joint with adjacent bone. synonym: "Premature closure of epiphyses" EXACT [] xref: SNOMEDCT_US:89493005 xref: UMLS:C0151628 is_a: HP:0005930 ! Abnormality of epiphysis morphology created_by: sandra1 creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010590 name: Abnormality of the distal femoral epiphysis def: "Any abnormality of the distal epiphysis of the femur." [HPO:probinson] synonym: "Abnormality of the end part of the outermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023783 is_a: HP:0006499 ! Abnormality of femoral epiphysis created_by: sandra1 creation_date: 2009-10-22T03:00:23Z [Term] id: HP:0010591 name: Abnormality of the proximal tibial epiphysis def: "Any abnormality of the proximal epiphysis of the tibia." [HPO:curators] synonym: "Abnormality of the end part of innermost shankbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the end part of innermost shinbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023782 is_a: HP:0006508 ! Abnormality of tibial epiphyses created_by: sandra1 creation_date: 2009-10-22T03:03:04Z [Term] id: HP:0010592 name: Abnormality of the distal tibial epiphysis synonym: "Abnormality of the end part of outermost shankbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the end part of outermost shinbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023781 is_a: HP:0006508 ! Abnormality of tibial epiphyses created_by: sandra1 creation_date: 2009-10-22T03:03:04Z [Term] id: HP:0010593 name: Abnormality of fibular epiphyses synonym: "Abnormality of the end part of the calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023780 is_a: HP:0006500 ! Abnormality of lower limb epiphysis morphology created_by: sandra1 creation_date: 2009-10-22T03:03:34Z [Term] id: HP:0010594 name: Abnormality of the proximal fibular epiphysis def: "Any abnormality of the proximal epiphysis of the fibula." [HPO:curators] synonym: "Abnormality of the innermost end part of calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023779 is_a: HP:0010593 ! Abnormality of fibular epiphyses created_by: sandra1 creation_date: 2009-10-22T03:04:39Z [Term] id: HP:0010595 name: Abnormality of the distal fibular epiphysis def: "Any abnormality of the distal epiphysis of the fibula." [HPO:curators] synonym: "Abnormality of the outermost end part of calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023778 is_a: HP:0010593 ! Abnormality of fibular epiphyses created_by: sandra1 creation_date: 2009-10-22T03:04:39Z [Term] id: HP:0010596 name: Abnormality of the proximal radial epiphysis def: "Any abnormality of the proximal epiphysis of the radius." [HPO:curators] xref: UMLS:C4023777 is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow is_a: HP:0003999 ! Abnormality of radial epiphyses created_by: sandra1 creation_date: 2009-10-22T03:06:29Z [Term] id: HP:0010597 name: Abnormality of the distal radial epiphysis def: "Any abnormality of the distal epiphysis of the radius." [HPO:curators] xref: UMLS:C4023776 is_a: HP:0003999 ! Abnormality of radial epiphyses created_by: sandra1 creation_date: 2009-10-22T03:06:29Z [Term] id: HP:0010598 name: Abnormality of the proximal humeral epiphysis def: "Any abnormality of the proximal epiphysis of the humerus." [HPO:curators] synonym: "Abnormality of the end part of the innermost long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023775 is_a: HP:0003891 ! Abnormality of the humeral epiphysis created_by: sandra1 creation_date: 2009-10-22T06:40:29Z [Term] id: HP:0010599 name: Abnormality of the distal humeral epiphysis def: "Any abnormality of the distal epiphysis of the humerus." [HPO:curators] synonym: "Abnormality of the end part of the outermost long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023774 is_a: HP:0003891 ! Abnormality of the humeral epiphysis is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow created_by: sandra1 creation_date: 2009-10-22T06:40:29Z [Term] id: HP:0010600 name: Abnormality of the distal ulnar epiphysis def: "Any abnormality of the distal epiphysis of the ulna." [HPO:curators] xref: UMLS:C4023773 is_a: HP:0004037 ! Abnormality of the ulnar epiphyses created_by: sandra1 creation_date: 2009-10-22T06:41:21Z [Term] id: HP:0010601 name: Abnormality of the proximal ulnar epiphysis def: "Any abnormality of the proximal epiphysis of the ulna." [HPO:curators] xref: UMLS:C4023772 is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow is_a: HP:0004037 ! Abnormality of the ulnar epiphyses created_by: sandra1 creation_date: 2009-10-22T06:41:21Z [Term] id: HP:0010602 name: Type 2 muscle fiber predominance def: "An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy)." [HPO:probinson] synonym: "Type II muscle fiber predominance" EXACT [] xref: UMLS:C3277187 is_a: HP:0004303 ! Abnormal muscle fiber morphology created_by: peter creation_date: 2009-10-25T09:56:24Z [Term] id: HP:0010603 name: Odontogenic keratocysts of the jaw def: "A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour." [HPO:curators, pmid:18353202] comment: Keratocystic odontogenic tumor (KCOT) most commonly affects the mandible, but may also be localized in the maxilla. synonym: "Keratocystic odontogenic tumor" EXACT [] synonym: "Keratocysts of the jaw" EXACT [HPO:skoehler] xref: UMLS:C1708604 is_a: HP:0100612 ! Odontogenic neoplasm created_by: sandra1 creation_date: 2009-10-27T02:26:31Z [Term] id: HP:0010604 name: Cyst of the eyelid synonym: "Cyst of the eyelid" EXACT layperson [] synonym: "Eyelid bump" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Eyelid mass" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Lesion of the eyelid" BROAD layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:248514008 xref: SNOMEDCT_US:301913002 xref: SNOMEDCT_US:46210008 xref: UMLS:C0155218 xref: UMLS:C0424844 xref: UMLS:C0578590 is_a: HP:0010732 ! Nodular changes affecting the eyelids is_a: HP:0200040 ! Epidermoid cyst created_by: sandra1 creation_date: 2009-10-27T10:57:50Z [Term] id: HP:0010605 name: Chalazion def: "A chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland. A chalazion or meibomian cyst appears as a painless tuberous swelling in the upper lid without loss of eyelashes." [HPO:probinson] synonym: "Meibomian gland lipogranuloma" EXACT [HPO:curators] xref: MSH:D017043 xref: SNOMEDCT_US:1482004 xref: UMLS:C0007933 is_a: HP:0010604 ! Cyst of the eyelid created_by: sandra1 creation_date: 2009-10-27T10:58:24Z [Term] id: HP:0010606 name: Hordeolum def: "An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling." [HPO:sdoelken] synonym: "Red bump on eyelid" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Stye of eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D006726 xref: SNOMEDCT_US:1489008 xref: SNOMEDCT_US:397513003 xref: UMLS:C0019917 xref: UMLS:C4280376 is_a: HP:0010732 ! Nodular changes affecting the eyelids created_by: sandra1 creation_date: 2009-10-27T11:01:13Z [Term] id: HP:0010607 name: Hordeolum externum def: "Hordeola externa are acute purulent infections affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll, often caused by staphylococcus infections. In contrast to chalazia, hordeola are extremely painfull and can cause extreme local swelling." [HPO:curators] xref: SNOMEDCT_US:1489008 xref: UMLS:C0019919 is_a: HP:0010606 ! Hordeolum created_by: sandra1 creation_date: 2009-10-27T11:33:07Z [Term] id: HP:0010608 name: Hordeolum internum def: "Hordeola interna are acute purulent infections affecting the meibomian sebacious glands, often caused by staphylococcus infections. In contrast to chalazia (chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland), hordeola are extremely painfull and can cause extreme local swelling." [HPO:curators] synonym: "Red bump on inner eyelid" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Stye of inner eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:414521009 xref: UMLS:C0085690 xref: UMLS:C4280375 is_a: HP:0010606 ! Hordeolum created_by: sandra1 creation_date: 2009-10-27T11:33:25Z [Term] id: HP:0010609 name: Skin tags def: "Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region." [HPO:sdoelken] synonym: "Acrochorda" EXACT [] xref: SNOMEDCT_US:201091002 xref: SNOMEDCT_US:31069005 xref: SNOMEDCT_US:80801001 xref: UMLS:C0037293 is_a: HP:0011355 ! Localized skin lesion created_by: sandra1 creation_date: 2009-10-27T11:41:03Z [Term] id: HP:0010610 name: Palmar pits xref: SNOMEDCT_US:247449001 xref: UMLS:C0423776 is_a: HP:0040211 ! Abnormality of the skin of the palm is_a: HP:0100276 ! Skin pit created_by: sandra1 creation_date: 2009-10-28T01:23:05Z [Term] id: HP:0010612 name: Plantar pits def: "The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot." [HPO:probinson] xref: UMLS:C1852301 is_a: HP:0100276 ! Skin pit is_a: HP:0100872 ! Abnormality of the plantar skin of foot created_by: sandra1 creation_date: 2009-10-28T01:25:57Z [Term] id: HP:0010614 name: Fibroma def: "Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term \"fibroblastic\" or \"fibromatous\" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors." [HPO:curators] xref: MSH:D005350 xref: NCIT:C3041 xref: SNOMEDCT_US:112682009 xref: SNOMEDCT_US:424568000 xref: UMLS:C0016045 is_a: HP:0012316 ! Fibrous tissue neoplasm is_a: HP:0030448 ! Soft tissue sarcoma created_by: sandra1 creation_date: 2009-10-28T05:52:39Z [Term] id: HP:0010615 name: Angiofibromas def: "Angiofibroma consist of many often dilated vessels." [HPO:curators] xref: MSH:D018322 xref: NCIT:C3799 xref: SNOMEDCT_US:302857002 xref: SNOMEDCT_US:60392001 xref: UMLS:C0206731 is_a: HP:0010614 ! Fibroma created_by: sandra1 creation_date: 2009-10-28T06:00:14Z [Term] id: HP:0010616 name: Lung fibroma def: "The presence of a lung fibroma, a benign neoplasm that can present as a mass causing airway obstruction, cough, and hemoptysis, or present without symptoms as a solitary pulmonary nodule." [HPO:curators] xref: NCIT:C3041 xref: SNOMEDCT_US:707387004 xref: UMLS:C1334444 is_a: HP:0010614 ! Fibroma is_a: HP:0100526 ! Neoplasm of the lung created_by: sandra1 creation_date: 2009-10-28T06:04:01Z [Term] id: HP:0010617 name: Cardiac fibroma def: "A fibroma of the heart." [HPO:probinson] xref: NCIT:C3041 xref: UMLS:C1096654 is_a: HP:0010614 ! Fibroma is_a: HP:0100544 ! Neoplasm of the heart created_by: sandra1 creation_date: 2009-10-28T06:13:11Z [Term] id: HP:0010618 name: Ovarian fibroma def: "The presence of a fibroma of the ovary." [HPO:probinson] comment: Ovarian fibromas belong to the sex cord-stromal tumour group of ovarian neoplasms. Ovarian fibromas are most frequent during middle age, and rare in children. Upon gross pathological inspection, ovary fibromas are firm and white or tan. xref: MSH:C562391 xref: NCIT:C3041 xref: SNOMEDCT_US:254865006 xref: UMLS:C0149951 is_a: HP:0010614 ! Fibroma is_a: HP:0100615 ! Ovarian neoplasm created_by: sandra1 creation_date: 2009-10-28T06:13:11Z [Term] id: HP:0010619 name: Fibroadenoma of the breast def: "A benign biphasic tumor of the breast with epithelial and stromal components." [HPO:probinson, pmid:23396888] comment: A connective tissue tumor of the breast which is usually benign and painless. Fibromas of the breast are more common in young woman. synonym: "Breast fibroadenoma" EXACT [] synonym: "Breast fibroadenomas" EXACT [HPO:skoehler] xref: NCIT:C3041 xref: SNOMEDCT_US:254845004 xref: UMLS:C0178421 is_a: HP:0010614 ! Fibroma is_a: HP:0100013 ! Neoplasm of the breast created_by: sandra1 creation_date: 2009-10-28T06:13:11Z [Term] id: HP:0010620 name: Malar prominence alt_id: HP:0000310 def: "Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face." [DDD:jclayton-smith] comment: Increased prominence of the malar region (cheeks), as manifested by anterior positioning of the infraorbital and perialar regions or increased convexity of the face or increased naso-labial angle. subset: hposlim_core synonym: "Cheekbone prominence" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Hyperplasia of malar bones" NARROW [ORCID:0000-0001-5889-4463] synonym: "Malar excess" EXACT [] synonym: "Malar hyperplasia" EXACT [] synonym: "Prominent malar region" EXACT [] xref: UMLS:C1858732 xref: UMLS:C4280374 is_a: HP:0012369 ! Abnormality of malar bones created_by: peter creation_date: 2009-11-02T07:53:02Z [Term] id: HP:0010621 name: Cutaneous syndactyly of toes alt_id: HP:0001990 alt_id: HP:0004707 alt_id: HP:0010555 def: "A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria." [HPO:probinson, pmid:19125433] subset: hposlim_core synonym: "Cutaneous syndactyly of feet" EXACT [] synonym: "soft tissue syndactyly of toes" EXACT [] synonym: "Webbed skin of toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1834737 is_a: HP:0001770 ! Toe syndactyly is_a: HP:0012725 ! Cutaneous syndactyly created_by: doelkens creation_date: 2009-11-18T10:32:21Z [Term] id: HP:0010622 name: Neoplasm of the skeletal system def: "A tumor (abnormal growth of tissue) of the skeleton." [HPO:probinson] synonym: "Bone neoplasm" RELATED [] synonym: "Neoplasia of the skeletal system" NARROW [] synonym: "Skeletal tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: NCIT:C3262 xref: SNOMEDCT_US:442868003 xref: UMLS:C2732838 xref: UMLS:C4020771 is_a: HP:0011793 ! Neoplasm by anatomical site is_a: HP:0011842 ! Abnormality of skeletal morphology created_by: peter creation_date: 2010-06-25T08:54:46Z [Term] id: HP:0010624 name: Aplastic/hypoplastic toenail alt_id: HP:0008381 alt_id: HP:0008389 def: "Absence or underdevelopment of the toenail." [HPO:probinson] synonym: "Absent/small toenails" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped toenails" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplastic/hypoplastic toenails" EXACT [] synonym: "Hypoplastic-absent toenails" EXACT [] xref: UMLS:C1856749 is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails is_a: HP:0008388 ! Abnormal toenail morphology created_by: doelkens creation_date: 2009-11-20T05:55:11Z [Term] id: HP:0010625 name: Anterior pituitary dysgenesis def: "Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis." [DDD:spark, HPO:probinson] synonym: "Adenohypophysis" EXACT [ORCID:0000-0001-5208-3432] xref: MSH:D010903 xref: SNOMEDCT_US:62818001 xref: UMLS:C0032008 xref: UMLS:C4023771 is_a: HP:0011747 ! Abnormality of the anterior pituitary created_by: peter creation_date: 2009-12-05T03:03:17Z [Term] id: HP:0010626 name: Anterior pituitary agenesis def: "Absence of the pituitary gland resulting from a developmental defect." [DDD:spark, HPO:probinson] synonym: "Absent pituitary gland" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia of the pituitary gland" EXACT [] xref: UMLS:C4021249 is_a: HP:0010625 ! Anterior pituitary dysgenesis created_by: peter creation_date: 2009-12-05T03:04:20Z [Term] id: HP:0010627 name: Anterior pituitary hypoplasia alt_id: HP:0008238 def: "Underdevelopment of the anterior pituitary gland." [DDD:spark, HPO:probinson] synonym: "Hypoplasia of the pituitary gland" RELATED [] synonym: "Underdeveloped pituitary gland" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C0948740 xref: UMLS:C1859775 is_a: HP:0010625 ! Anterior pituitary dysgenesis created_by: peter creation_date: 2009-12-05T03:04:48Z [Term] id: HP:0010628 name: Facial palsy alt_id: HP:0000296 alt_id: HP:0000302 alt_id: HP:0000344 alt_id: HP:0000353 alt_id: HP:0002008 alt_id: HP:0002259 alt_id: HP:0002517 alt_id: HP:0004670 alt_id: HP:0007212 alt_id: HP:0200004 def: "Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form." [HPO:sdoelken] comment: Several conditions can cause a facial paralysis, e.g. brain tumor, stroke, and Lyme disease. However, if no specific cause can be identified, the condition is known as Bell's palsy. Named after Scottish anatomist Charles Bell, who first described it. Bell's palsy is the most common acute mononeuropathy (disease involving only one nerve) and is the most common cause of acute facial nerve paralysis. subset: hposlim_core synonym: "Bell's palsy" EXACT layperson [] synonym: "Cranial nerve VII palsy" EXACT [] synonym: "Facial muscle weakness of muscles innervated by CN VII" RELATED [] synonym: "Facial nerve palsy" EXACT [] synonym: "Facial nerve paralysis" EXACT [] synonym: "Facial palsy, unilateral or bilateral" EXACT [] synonym: "Seventh cranial nerve palsy" EXACT [] synonym: "VII th cranial nerve palsy" EXACT [] xref: MSH:D005158 xref: MSH:D020330 xref: SNOMEDCT_US:193093009 xref: SNOMEDCT_US:95666008 xref: UMLS:C0376175 xref: UMLS:C0427055 xref: UMLS:C1858719 is_a: HP:0001324 ! Muscle weakness is_a: HP:0006824 ! Cranial nerve paralysis is_a: HP:0010827 ! Abnormality of the seventh cranial nerve is_a: HP:0030319 ! Weakness of facial musculature created_by: peter creation_date: 2009-12-06T05:08:30Z [Term] id: HP:0010629 name: Abnormal morphology of the cortex of the humerus def: "Any abnormality affecting the cortex of the humerus." [HPO:curators] xref: UMLS:C4023770 is_a: HP:0003103 ! Abnormal cortical bone morphology is_a: HP:0031095 ! Abnormal humerus morphology created_by: peter creation_date: 2009-12-06T05:45:26Z [Term] id: HP:0010630 name: Abnormality of metatarsal epiphysis def: "Any abnormality of a metatarsal bone epiphysis." [HPO:curators] synonym: "Abnormality of end part of long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the epiphyses of the metatarsals" EXACT [] xref: UMLS:C4021248 is_a: HP:0001832 ! Abnormal metatarsal morphology is_a: HP:0010631 ! Abnormality of the epiphyses of the feet created_by: peter creation_date: 2009-12-06T05:58:36Z [Term] id: HP:0010631 name: Abnormality of the epiphyses of the feet def: "Any abnormality of the epiphyses of the feet." [HPO:curators] synonym: "Abnormality of the end part of the foot bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023769 is_a: HP:0006500 ! Abnormality of lower limb epiphysis morphology created_by: peter creation_date: 2009-12-06T06:00:04Z [Term] id: HP:0010632 name: Total anosmia def: "Inability to detect any qualitative olfactory sensation." [HPO:curators] xref: UMLS:C4023768 is_a: HP:0000458 ! Anosmia created_by: peter creation_date: 2009-12-06T07:51:50Z [Term] id: HP:0010633 name: Partial anosmia def: "Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants)." [HPO:curators] xref: UMLS:C4023767 is_a: HP:0000458 ! Anosmia created_by: peter creation_date: 2009-12-06T07:52:37Z [Term] id: HP:0010634 name: Total hyposmia def: "Reduced ability to detect any qualitative olfactory sensation." [HPO:curators] xref: UMLS:C4023766 is_a: HP:0004409 ! Hyposmia created_by: peter creation_date: 2009-12-06T07:54:13Z [Term] id: HP:0010635 name: Partial hyposmia def: "Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants)." [HPO:probinson] xref: UMLS:C4023765 is_a: HP:0004409 ! Hyposmia created_by: peter creation_date: 2009-12-06T07:54:13Z [Term] id: HP:0010636 name: Schizencephaly def: "The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area." [HPO:curators] xref: MSH:D065707 xref: SNOMEDCT_US:253159001 xref: SNOMEDCT_US:38353004 xref: UMLS:C0266484 is_a: HP:0002060 ! Abnormality of the cerebrum created_by: peter creation_date: 2009-12-06T08:05:54Z [Term] id: HP:0010637 name: Conjunctival amyloidosis def: "A form of amyloidosis that affects the conjunctiva." [HPO:probinson] comment: The deposition of amyloid, a noncollagenous protein, in the conjunctiva, which presents as a discrete, nontender, nonulcerative, waxy, yellow-white subconjunctival tissue. xref: SNOMEDCT_US:59017008 xref: UMLS:C0268402 is_a: HP:0000502 ! Abnormal conjunctiva morphology is_a: HP:0011034 ! Amyloidosis created_by: peter creation_date: 2009-12-07T03:20:51Z [Term] id: HP:0010638 name: Elevated alkaline phosphatase of hepatic origin def: "An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood." [HPO:probinson] synonym: "Elevated ALP of hepatic origin" EXACT HP:0045077 [] xref: UMLS:C4023764 is_a: HP:0010679 ! Elevated tissue non-specific alkaline phosphatase created_by: doelkens creation_date: 2009-12-11T03:47:19Z [Term] id: HP:0010639 name: Elevated alkaline phosphatase of bone origin alt_id: HP:0008266 def: "An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood." [HPO:probinson] comment: Bone alkaline phosphatase (BALP) is encoded by the tissue non-specific form of alkaline phosphatase and thus is an isoform of this isoenzyme. synonym: "Elevated alkaline phosphatase of bone origin" EXACT layperson [] synonym: "Elevated ALP of bone origin" EXACT HP:0045077 [] synonym: "Increased serum bone-specific alkaline phosphatase" EXACT layperson [] xref: UMLS:C1833667 is_a: HP:0010679 ! Elevated tissue non-specific alkaline phosphatase created_by: doelkens creation_date: 2009-12-11T03:47:19Z [Term] id: HP:0010640 name: Abnormality of the nasal cavity def: "Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures)." [HPO:curators] xref: UMLS:C4023763 is_a: HP:0000366 ! Abnormality of the nose created_by: doelkens creation_date: 2009-12-17T04:56:17Z [Term] id: HP:0010641 name: Abnormality of the midnasal cavity def: "Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae." [HPO:curators] xref: UMLS:C4021861 is_a: HP:0010640 ! Abnormality of the nasal cavity created_by: doelkens creation_date: 2009-12-17T04:58:21Z [Term] id: HP:0010643 name: Midnasal atresia def: "Absence or abnormal closure of the midnasal cavity." [HPO:curators] xref: UMLS:C4023762 is_a: HP:0010644 ! Midnasal stenosis created_by: doelkens creation_date: 2009-12-17T05:06:01Z [Term] id: HP:0010644 name: Midnasal stenosis alt_id: HP:0010642 def: "Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress." [HPO:probinson] synonym: "Midnasal atresia or stenosis" EXACT [] xref: UMLS:C1840238 is_a: HP:0010641 ! Abnormality of the midnasal cavity created_by: doelkens creation_date: 2009-12-17T05:06:01Z [Term] id: HP:0010645 name: Aplasia of the distal phalanges of the toes def: "Absence of the distal phalanges of the toes." [HPO:curators] synonym: "Absent outermost bone of the toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023761 is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes is_a: HP:0010745 ! Aplasia of the phalanges of the toes created_by: peter creation_date: 2010-02-17T02:41:47Z [Term] id: HP:0010646 name: Cervical spine instability def: "An abnormal lack of stability of the cervical spine." [HPO:curators] comment: The cervical spine is made up of two anatomically and functionally distinct segments: the upper cervical spine (C1and C2), which possesses the most rotational mobility with some degrees of frontal and sagittal plane mobility, and the lower cervical spine, which allows for two types of movements - flexion-extension and inclination-rotation. Cervical instability mainly involves the upper cervical spine, particularly between C1 and C2. Craniocervical ligaments are the main determinants of cervical spine stability. xref: SNOMEDCT_US:202821008 xref: UMLS:C0410652 is_a: HP:0003319 ! Abnormality of the cervical spine created_by: doelkens creation_date: 2010-02-23T11:15:32Z [Term] id: HP:0010647 name: Abnormal elasticity of skin def: "Any abnormal increase or reduction in skin elasticity." [DDD:cmoss] xref: UMLS:C4023760 is_a: HP:0011121 ! Abnormality of skin morphology created_by: doelkens creation_date: 2010-02-23T11:42:34Z [Term] id: HP:0010648 name: Dermal translucency def: "An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility." [HPO:probinson] subset: hposlim_core synonym: "Translucent skin" EXACT [] xref: UMLS:C1836646 is_a: HP:0011121 ! Abnormality of skin morphology created_by: doelkens creation_date: 2010-02-23T11:50:37Z [Term] id: HP:0010649 name: Flat nasal alae def: "An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae)." [HPO:probinson] synonym: "Depressed nasal alae" EXACT [ORCID:0000-0001-5889-4463] synonym: "Flat nasal alar cartilage" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4023759 is_a: HP:0000429 ! Abnormality of the nasal alae created_by: peter creation_date: 2010-02-25T10:01:47Z [Term] id: HP:0010650 name: Hypoplasia of the premaxilla def: "An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures." [HPO:probinson, ORCID:0000-0001-5889-4463, pmid:19125436] subset: hposlim_core synonym: "Decreased size of premaxilla" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased size of the primary palate bone" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypoplasia of the intermaxillary bone" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypoplasia of the primary palate bone" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Premaxillary bone deficiency" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Premaxillary bone retrusion" RELATED [ORCID:0000-0001-5889-4463] synonym: "Premaxillary retrusion" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Premaxillary underdevelopment" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Primary palate bone deficiency" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Primary palate bone retrusion" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Small premaxilla" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Small primary palate bone" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of premaxilla" EXACT [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of the premaxilla" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of the primary palate bone" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4020770 xref: UMLS:C4072878 is_a: HP:0002692 ! Hypoplastic facial bones is_a: HP:0010756 ! Aplasia/Hypoplasia of the premaxilla created_by: peter creation_date: 2010-02-25T10:11:43Z [Term] id: HP:0010651 name: Abnormal meningeal morphology def: "An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater." [HPO:probinson] synonym: "Abnormality of the meninges" EXACT [] xref: UMLS:C4023758 is_a: HP:0002011 ! Morphological abnormality of the central nervous system created_by: peter creation_date: 2010-02-25T10:19:40Z [Term] id: HP:0010652 name: Abnormal dura mater morphology def: "An abnormality of the Dura mater." [HPO:probinson] synonym: "Abnormality of the dura mater" EXACT [] xref: UMLS:C4023757 is_a: HP:0010651 ! Abnormal meningeal morphology created_by: peter creation_date: 2010-02-25T10:29:40Z [Term] id: HP:0010653 name: Abnormality of the falx cerebri def: "An abnormality of the Falx cerebri." [HPO:probinson] comment: The falx cerebri refers to the fold of dura mater which descends vertically in the longitudinal fissure between the cerebral hemispheres. synonym: "Abnormality of the cerebral falx" EXACT [] xref: UMLS:C4021247 is_a: HP:0010652 ! Abnormal dura mater morphology created_by: peter creation_date: 2010-02-25T10:32:52Z [Term] id: HP:0010654 name: Aplasia of the falx cerebri def: "A developmental defect characterized by aplasia of the Falx cerebri." [HPO:probinson] synonym: "Absent cerebral falx" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4023756 is_a: HP:0010653 ! Abnormality of the falx cerebri created_by: peter creation_date: 2010-02-25T10:35:26Z [Term] id: HP:0010655 name: Epiphyseal stippling alt_id: HP:0002658 alt_id: HP:0010586 def: "The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses." [HPO:probinson] comment: Stippling resolves with maturation of the epiphysis but is often replaced by some permament epiphyseal abnormality. synonym: "Epiphyseal punctate calcifications" EXACT [] synonym: "Speckled calcifications in end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Stippled epiphyses" EXACT [] synonym: "Stippling of the epiphyses" EXACT [] xref: SNOMEDCT_US:360507004 xref: UMLS:C1859126 is_a: HP:0005930 ! Abnormality of epiphysis morphology is_a: HP:0010656 ! Abnormal epiphyseal ossification is_a: HP:0010766 ! Ectopic calcification created_by: doelkens creation_date: 2010-02-25T09:41:24Z [Term] id: HP:0010656 name: Abnormal epiphyseal ossification def: "An abnormality of the formation and mineralization of an epiphysis." [HPO:probinson] synonym: "Abnormal maturation of the end part of a bone" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the mineralisation or ossification of the epiphyses" EXACT [] xref: UMLS:C4021246 is_a: HP:0003336 ! Abnormal enchondral ossification created_by: doelkens creation_date: 2010-02-25T09:43:04Z [Term] id: HP:0010657 name: Patchy reduction of bone mineral density def: "Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:curators] xref: UMLS:C4023755 is_a: HP:0002797 ! Osteolysis is_a: HP:0004349 ! Reduced bone mineral density is_a: HP:0010658 ! Patchy changes of bone mineral density created_by: doelkens creation_date: 2010-02-25T10:32:54Z [Term] id: HP:0010658 name: Patchy changes of bone mineral density def: "Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density)." [HPO:curators] xref: UMLS:C4023754 is_a: HP:0004348 ! Abnormality of bone mineral density created_by: doelkens creation_date: 2010-02-25T10:42:39Z [Term] id: HP:0010659 name: Patchy variation in bone mineral density def: "Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays." [HPO:probinson] synonym: "Patchy increased and decreased bone mineral density" EXACT layperson [] xref: UMLS:C4021245 is_a: HP:0004349 ! Reduced bone mineral density is_a: HP:0010658 ! Patchy changes of bone mineral density created_by: doelkens creation_date: 2010-02-25T10:49:23Z [Term] id: HP:0010660 name: Abnormal hand bone ossification alt_id: HP:0005921 def: "An abnormality of the formation and mineralization of any bone of the skeleton of hand." [HPO:probinson] synonym: "Abnormal maturation of the hand bones" RELATED layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormal ossification of hand bones" EXACT [] synonym: "Abnormality of the mineralisation and ossification of bones of the hand" EXACT [] xref: UMLS:C4021244 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0003336 ! Abnormal enchondral ossification created_by: doelkens creation_date: 2010-02-25T05:18:19Z [Term] id: HP:0010661 name: Absence of the third cerebral ventricle def: "A developmental defect characterized by the absence of the Third ventricle." [HPO:probinson] xref: UMLS:C4023753 is_a: HP:0010951 ! Abnormality of the third ventricle created_by: peter creation_date: 2010-02-26T08:00:47Z [Term] id: HP:0010662 name: Abnormality of the diencephalon def: "An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain." [HPO:probinson] comment: The diencephalon comprises the thalamus, hypothalamus, epithalamus, prethalamus or subthalamus and pretectum. xref: UMLS:C4023752 is_a: HP:0100547 ! Abnormality of forebrain morphology created_by: peter creation_date: 2010-02-26T08:02:38Z [Term] id: HP:0010663 name: Abnormality of thalamus morphology def: "An abnormality of the thalamus." [HPO:probinson] synonym: "Abnormal shape of thalamus" EXACT [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the thalamus" EXACT [] xref: UMLS:C4021243 is_a: HP:0010662 ! Abnormality of the diencephalon created_by: peter creation_date: 2010-02-26T08:03:50Z [Term] id: HP:0010664 name: Fusion of the left and right thalami def: "A developmental defect characterized by fusion of the left and right halves of the thalamus." [HPO:probinson] synonym: "Fused thalami" EXACT [] synonym: "Fusion of thamali" RELATED [] synonym: "Undivided thalami" EXACT [] xref: UMLS:C1834930 xref: UMLS:C4020769 is_a: HP:0010663 ! Abnormality of thalamus morphology created_by: peter creation_date: 2010-02-26T08:04:37Z [Term] id: HP:0010665 name: Bilateral coxa valga def: "The presence of bilateral coxa_valga." [HPO:probinson] xref: UMLS:C3810018 is_a: HP:0002673 ! Coxa valga created_by: peter creation_date: 2010-02-26T08:07:03Z [Term] id: HP:0010666 name: Hypoplasia of the anterior nasal spine def: "Underdevelopment of the anterior nasal spine of maxilla." [HPO:probinson] synonym: "Decreased length of anterior nasal spine" NARROW [ORCID:0000-0001-5889-4463] synonym: "Decreased projection of anterior nasal spine" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased size of anterior nasal spine" EXACT [ORCID:0000-0001-5889-4463] synonym: "Deficiency of anterior nasal spine" RELATED [ORCID:0000-0001-5889-4463] synonym: "Hypotrophic anterior nasal spine" RELATED [ORCID:0000-0001-5889-4463] synonym: "Small anterior nasal spine" EXACT [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of anterior nasal spine" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023751 xref: UMLS:C4280372 xref: UMLS:C4280373 is_a: HP:0000327 ! Hypoplasia of the maxilla created_by: peter creation_date: 2010-02-26T08:10:11Z [Term] id: HP:0010667 name: Aplasia of the maxilla def: "A congenital defect characterized by absence of the Maxilla." [HPO:probinson] synonym: "Absence of the maxilla" EXACT [ORCID:0000-0001-5889-4463] synonym: "Absence of upper jaw bones" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Agenesis of the maxilla" EXACT [ORCID:0000-0001-5889-4463] synonym: "Aplasia of the upper jaw bones" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of maxilla" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of upper jaw bones" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Missing upper jaw bones" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023750 xref: UMLS:C4280371 is_a: HP:0000326 ! Abnormality of the maxilla is_a: HP:0040008 ! Aplasia of facial bones created_by: peter creation_date: 2010-02-26T08:11:45Z [Term] id: HP:0010668 name: Abnormality of the zygomatic bone def: "An abnormality of the zygomatic bone." [HPO:curators] synonym: "Abnormality of the cheekbone" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Anomaly of the zygomatic bone" NARROW [ORCID:0000-0001-5889-4463] synonym: "Deformity of the cheekbone" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Deformity of the zygomatic bone" NARROW [ORCID:0000-0001-5889-4463] synonym: "Malformation of the zygomatic bone" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4023749 is_a: HP:0011821 ! Abnormality of facial skeleton created_by: peter creation_date: 2010-02-26T08:13:11Z [Term] id: HP:0010669 name: Hypoplasia of the zygomatic bone def: "Underdevelopment of the zygomatic bone [UBERON_0001683]. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch." [HPO:probinson, ORCID:0000-0001-5889-4463, pmid:19125436] synonym: "Cheekbone underdevelopment" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased size of cheekbone" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased size of zygomatic bone" EXACT [ORCID:0000-0001-5889-4463] synonym: "Depressed cheekbone" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Depressed zygomatic bone" BROAD [ORCID:0000-0001-5889-4463] synonym: "Flattening of the zygomatic bone" BROAD [ORCID:0000-0001-5889-4463] synonym: "Hypoplasia of cheekbone" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypotrophic cheekbone" RELATED [ORCID:0000-0001-5889-4463] synonym: "Hypotrophic zygomatic bone" RELATED [ORCID:0000-0001-5889-4463] synonym: "Hypotrophy of the cheekbone" RELATED [ORCID:0000-0001-5889-4463] synonym: "Hypotrophy of the zygomatic bone" RELATED [ORCID:0000-0001-5889-4463] synonym: "Small cheekbone" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Small malar bone" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Small zygomatic bone" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of cheekbone" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of zygomatic bone" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4021242 xref: UMLS:C4072879 xref: UMLS:C4280368 xref: UMLS:C4280369 xref: UMLS:C4280370 is_a: HP:0002692 ! Hypoplastic facial bones is_a: HP:0010668 ! Abnormality of the zygomatic bone created_by: peter creation_date: 2010-02-26T08:14:04Z [Term] id: HP:0010672 name: Abnormality of the third metatarsal bone def: "An abnormality of the third metatarsal bone." [HPO:probinson] synonym: "Abnormality of the 3rd long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023748 is_a: HP:0001832 ! Abnormal metatarsal morphology created_by: peter creation_date: 2010-02-26T08:22:51Z [Term] id: HP:0010674 name: Abnormality of the curvature of the vertebral column def: "The presence of an abnormal curvature of the vertebral column." [HPO:probinson] synonym: "Abnormal curve of the backbone" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Abnormal curve of the spine" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4023747 is_a: HP:0000925 ! Abnormality of the vertebral column created_by: sandra1 creation_date: 2010-02-27T06:28:19Z [Term] id: HP:0010675 name: Abnormal foot bone ossification alt_id: HP:0008370 alt_id: HP:0009133 def: "An abnormality of the formation and mineralization of any bone of the skeleton of foot." [HPO:probinson] synonym: "Abnormal maturation of foot bones" RELATED [ORCID:0000-0001-5208-3432] synonym: "Abnormal ossification involving bones of the feet" RELATED [] synonym: "Abnormality of the mineralisation and ossification of bones of the feet" EXACT [] xref: UMLS:C4020768 xref: UMLS:C4021241 xref: UMLS:C4280367 is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0003336 ! Abnormal enchondral ossification created_by: sandra1 creation_date: 2010-02-28T05:27:47Z [Term] id: HP:0010676 name: Mechanical ileus xref: SNOMEDCT_US:46420000 xref: UMLS:C0400843 is_a: HP:0002595 ! Ileus created_by: sandra1 creation_date: 2010-03-01T08:43:38Z [Term] id: HP:0010677 name: Enuresis nocturna def: "Enuresis occurring during sleeping hours." [HPO:sdoelken] synonym: "Nocturnal enuresis" EXACT [] xref: MSH:D053206 xref: SNOMEDCT_US:8009008 xref: UMLS:C0270327 is_a: HP:0000805 ! Enuresis created_by: sandra1 creation_date: 2010-03-01T09:11:31Z [Term] id: HP:0010678 name: Enuresis diurna def: "Enuresis occurring during waking hours of the day." [HPO:sdoelken] xref: UMLS:C4023746 is_a: HP:0000805 ! Enuresis created_by: sandra1 creation_date: 2010-03-01T09:11:51Z [Term] id: HP:0010679 name: Elevated tissue non-specific alkaline phosphatase def: "An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood." [HPO:probinson] comment: Tissue non-specific alkaline phosphatase (ALPP) is one of four distinct but related alkaline phosphatases. Entrez Gene ID 249, Uniprot P05186 (PPBT_HUMAN). The gene is also known as alkaline phosphatase, liver/bone/kidney (ALPL ). synonym: "Elevated alkaline phosphatase, liver/bone/kidney" EXACT [] synonym: "Elevated tissue non-specific ALP" EXACT HP:0045077 [] xref: UMLS:C4021240 is_a: HP:0003155 ! Elevated alkaline phosphatase created_by: doelkens creation_date: 2010-03-05T11:08:35Z [Term] id: HP:0010680 name: Elevated alkaline phosphatase of renal origin def: "An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood." [HPO:probinson] synonym: "Elevated ALP of renal origin" EXACT HP:0045077 [] xref: UMLS:C4023745 is_a: HP:0010679 ! Elevated tissue non-specific alkaline phosphatase is_a: HP:0012211 ! Abnormal renal physiology created_by: doelkens creation_date: 2010-03-05T11:09:59Z [Term] id: HP:0010681 name: Elevated intestinal alkaline phosphatase def: "An abnormally increased level of alkaline phosphatase, intestinal type in the blood." [HPO:probinson] comment: Intestinal alkaline phosphatase (IAP) is one of four distinct but related alkaline phosphatases. Entrez Gene ID:248, Uniprot ID: P09923 (PPBI_HUMAN). synonym: "Elevated intestinal ALP" EXACT HP:0045077 [] xref: UMLS:C4023744 is_a: HP:0003155 ! Elevated alkaline phosphatase created_by: doelkens creation_date: 2010-03-05T11:10:34Z [Term] id: HP:0010682 name: Elevated placental alkaline phosphatase def: "An abnormally increased level of alkaline phosphatase, placental type in the blood." [HPO:probinson] comment: Placental alkaline phosphatase (ALPP) is one of four distinct but related alkaline phosphatases. Entrez Gene ID 250, Uniprot P05187 (PPB1_HUMAN). synonym: "Elevated placental ALP" EXACT HP:0045077 [] xref: UMLS:C4023743 is_a: HP:0003155 ! Elevated alkaline phosphatase created_by: doelkens creation_date: 2010-03-05T11:11:06Z [Term] id: HP:0010683 name: Low tissue non-specific alkaline phosphatase def: "An abnormally reduced level of alkaline phosphatase, tissue-nonspecific isozyme in the blood." [HPO:probinson] synonym: "Low tissue non-specific ALP" EXACT HP:0045077 [] xref: UMLS:C4023742 is_a: HP:0003282 ! Low alkaline phosphatase created_by: doelkens creation_date: 2010-03-05T11:12:08Z [Term] id: HP:0010684 name: Low alkaline phosphatase of bone origin def: "An abnormally reduced level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood." [HPO:probinson] synonym: "Low ALP of bone origin" EXACT HP:0045077 [] xref: UMLS:C4023741 is_a: HP:0003282 ! Low alkaline phosphatase created_by: doelkens creation_date: 2010-03-05T11:12:47Z [Term] id: HP:0010685 name: Low alkaline phosphatase of renal origin def: "An abnormally reduced level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood." [HPO:probinson] synonym: "Low ALP of renal origin" EXACT HP:0045077 [] xref: UMLS:C4023740 is_a: HP:0003282 ! Low alkaline phosphatase is_a: HP:0012211 ! Abnormal renal physiology created_by: doelkens creation_date: 2010-03-05T11:12:47Z [Term] id: HP:0010686 name: Low alkaline phosphatase of hepatic origin def: "An abnormally reduced level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood." [HPO:probinson] synonym: "Low ALP of hepatic origin" EXACT HP:0045077 [] xref: UMLS:C4023739 is_a: HP:0003282 ! Low alkaline phosphatase created_by: doelkens creation_date: 2010-03-05T11:12:47Z [Term] id: HP:0010687 name: Low intestinal alkaline phosphatase def: "An abnormally reduced level of alkaline phosphatase, intestinal type in the blood." [HPO:probinson] synonym: "Low intestinal ALP" EXACT HP:0045077 [] xref: UMLS:C4023738 is_a: HP:0003282 ! Low alkaline phosphatase created_by: doelkens creation_date: 2010-03-05T11:13:10Z [Term] id: HP:0010688 name: Low placental alkaline phosphatase def: "An abnormally reduced level of alkaline phosphatase, placental type in the blood." [HPO:probinson] synonym: "Low placental ALP" EXACT HP:0045077 [] xref: UMLS:C4023737 is_a: HP:0003282 ! Low alkaline phosphatase created_by: doelkens creation_date: 2010-03-05T11:13:28Z [Term] id: HP:0010689 name: Mirror image polydactyly def: "A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand typically resemble fifth fingers/toes." [HPO:sdoelken, pmid:19125433] comment: Transplantation of the ZPA (zone of polarised activity) to the anterior margin of a limb bud in the chick results in mirror image duplication of limb elements (Tabin, 1991). Similarly, mirror image duplication in the forelimb of the mouse has been observed with ectopic expression of Hox b-8 (Charit6 et al, 1994). Mirror hand anomaly in humans has been shown to be due to either aberrant positioning of the ZPA or altered inductive interactions of the Shh gene resulting in impairment of the mechanism responsible for the organization and differentiation of the limb bud, rather than a primary duplication event. In other words, the primary event results in failure of the radial ray to develop. The ulnar area will then induce the differentiation of two groups of ulnar rays. Timing of this insult could play a critical role in severity of this phenotypic feature. Syndromal mirror hand is probably due to agene mutation of the Shh gene (Hersh et al, 1995). Finally, the multiple hand deformity may be explained by true duplication of the ZPA. synonym: "Mirror image duplication of digits" EXACT [] xref: MSH:C535689 xref: SNOMEDCT_US:715440003 xref: UMLS:C1851100 is_a: HP:0010442 ! Polydactyly created_by: doelkens creation_date: 2010-03-05T05:03:16Z [Term] id: HP:0010690 name: Mirror image hand polydactyly def: "Mirror image duplication of digits affecting the hands only." [HPO:sdoelken] subset: hposlim_core synonym: "Mirror image dupliction of fingers" EXACT layperson [] xref: UMLS:C4021239 is_a: HP:0001161 ! Hand polydactyly is_a: HP:0010689 ! Mirror image polydactyly created_by: doelkens creation_date: 2010-03-05T05:05:05Z [Term] id: HP:0010691 name: Mirror image foot polydactyly def: "Mirror image duplication of digits affecting the feet." [HPO:sdoelken] synonym: "Mirror image dupliction of toes" EXACT layperson [] xref: UMLS:C4021238 is_a: HP:0001829 ! Foot polydactyly is_a: HP:0010689 ! Mirror image polydactyly created_by: doelkens creation_date: 2010-03-05T05:05:05Z [Term] id: HP:0010692 name: 2-5 finger syndactyly def: "Syndactyly with fusion of fingers two to five." [HPO:sdoelken] synonym: "Webbed 2nd-5th fingers" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Webbed index, middle and little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Webbed index, middle and pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Webbed index, middle and pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023736 is_a: HP:0006101 ! Finger syndactyly created_by: doelkens creation_date: 2010-03-05T06:41:50Z [Term] id: HP:0010693 name: Pulverulent cataract def: "A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally." [HPO:probinson, HPO:vkumar] comment: The word "pulverulent " means dust-like and refers to the dustlike appearance of the punctate opacities in this type of cataract. The word pulverulent refers to the very small size of the punctate opacities (like flecks of dust) rather than to a dust-like color. synonym: "Pulverulent cataract" EXACT layperson [] xref: MSH:C563426 xref: UMLS:C1833118 is_a: HP:0007648 ! Punctate cataract created_by: peter creation_date: 2010-03-11T02:49:53Z [Term] id: HP:0010694 name: Lamellar pulverulent cataract def: "A Lamellar cataract with a pulverulent (punctate, \"dust-like\" opacities) appearance." [HPO:probinson] comment: Opacities located in the perinuclear (lamellar) zones of the lens. xref: UMLS:C4023735 is_a: HP:0007971 ! Lamellar cataract created_by: peter creation_date: 2010-03-20T11:43:14Z [Term] id: HP:0010695 name: Sutural cataract def: "A type of congenital cataract in which the opacity follows the anterior or posterior Y suture." [HPO:probinson] comment: During lens terminal differentiation, the originally cuboidal lens vesicle cells elongate into long fiber-like cells, or fibers. Y-shaped sutures form because of how the lens epithelial cells proliferate during formation. The Y sutures demarcate the boundaries between the lens cortex, which is peripheral to the Y sutures, and the lens nucleus, which is within and includes the Y sutures. The anterior Y suture is oriented upright, and the posterior Y suture is inverted. xref: UMLS:C4023734 is_a: HP:0010920 ! Zonular cataract created_by: peter creation_date: 2010-03-20T12:07:04Z [Term] id: HP:0010696 name: Polar cataract def: "A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens." [HPO:probinson] xref: UMLS:C2025392 is_a: HP:0000518 ! Cataract created_by: peter creation_date: 2010-03-20T02:36:22Z [Term] id: HP:0010697 name: Anterior pyramidal cataract def: "A type of anterior polar cataract which projects as a conical opacity into the anterior chamber." [HPO:probinson] synonym: "Pyramidal cataract" RELATED [] xref: UMLS:C1392099 is_a: HP:0001134 ! Anterior polar cataract created_by: peter creation_date: 2010-03-20T02:38:57Z [Term] id: HP:0010698 name: Nuclear pulverulent cataract def: "A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus." [HPO:probinson, pmid:10634616, PMID:14059288] synonym: "cataracta pulverulenta centralis" EXACT [] synonym: "Central pulverulent cataract" EXACT [] synonym: "Coppock-like cataract" EXACT [] synonym: "Pulverulent nuclear cataract" EXACT [] xref: UMLS:C4021237 is_a: HP:0010693 ! Pulverulent cataract is_a: HP:0010925 ! Nuclear punctate cataract created_by: peter creation_date: 2010-03-20T02:53:02Z [Term] id: HP:0010699 name: Triangular nuclear cataract def: "A nuclear cataract with a triangular form." [HPO:probinson, pmid:18483562] xref: UMLS:C4023733 is_a: HP:0100018 ! Nuclear cataract created_by: peter creation_date: 2010-03-20T02:58:26Z [Term] id: HP:0010700 name: obsolete Total cataract is_obsolete: true replaced_by: HP:0000518 [Term] id: HP:0010701 name: Abnormal immunoglobulin level alt_id: HP:0100032 def: "An abnormal deviation from normal levels of immunoglobulins in blood." [HPO:probinson] comment: 'has part' some \n(amount and ('inheres in' some \n(IMR_0002090 and ('part of' some blood))) and ('has modifier' some abnormal)) synonym: "Abnormal immunoglobulin concentration" EXACT [] synonym: "Abnormal serum immunoglobulin concentration" EXACT [] synonym: "Abnormal serum immunoglobulin levels" EXACT [HPO:skoehler] synonym: "Abnormal serum level of immunoglobulin" EXACT [] synonym: "Immunoglobulin abnormality" EXACT [] xref: UMLS:C1855755 is_a: HP:0005368 ! Abnormality of humoral immunity is_a: HP:0005372 ! Abnormality of B cell physiology created_by: peter creation_date: 2010-03-22T08:17:49Z [Term] id: HP:0010702 name: Increased antibody level in blood alt_id: HP:0002852 alt_id: HP:0004314 alt_id: HP:0004435 def: "An increased level of gamma globulin (immunoglobulin) in the blood." [HPO:probinson] comment: In humans, immunoglobulins comprise the five antibody isotypes IgA, IgD, IgE, IgG and IgM. synonym: "Elevated immunoglobulin levels" EXACT [] synonym: "Hypergammaglobulinaemia" EXACT [] synonym: "Hypergammaglobulinemia" EXACT [] synonym: "Hyperglobulinemia" EXACT [] synonym: "Increased gamma globulin" EXACT [] synonym: "Increased immunoglobulin level" EXACT [] synonym: "Increased serum gamma globulin" EXACT [] synonym: "Raised immunoglobulin levels" EXACT [] xref: MSH:D006942 xref: SNOMEDCT_US:127388009 xref: SNOMEDCT_US:129646001 xref: UMLS:C0020455 xref: UMLS:C0151669 xref: UMLS:C0541985 xref: UMLS:C1306857 xref: UMLS:C2048011 is_a: HP:0010701 ! Abnormal immunoglobulin level created_by: peter creation_date: 2010-03-22T08:20:07Z [Term] id: HP:0010704 name: 1-2 finger syndactyly def: "Syndactyly with fusion of fingers one and two." [HPO:sdoelken] synonym: "Webbed 1st-2nd finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Webbed thumb and index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023732 is_a: HP:0006101 ! Finger syndactyly created_by: sdoelken creation_date: 2010-03-26T05:07:14Z [Term] id: HP:0010705 name: 4-5 finger syndactyly def: "Syndactyly with fusion of fingers four and five." [HPO:sdoelken] synonym: "Webbed 4th-5th finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023731 is_a: HP:0006101 ! Finger syndactyly created_by: sdoelken creation_date: 2010-03-26T05:12:44Z [Term] id: HP:0010706 name: 1-3 finger syndactyly def: "Syndactyly with fusion of fingers one to three." [HPO:sdoelken] synonym: "Webbed 1st-3rd finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023730 is_a: HP:0006101 ! Finger syndactyly created_by: sdoelken creation_date: 2010-03-26T05:12:44Z [Term] id: HP:0010707 name: 1-4 finger syndactyly def: "Syndactyly with fusion of fingers one to four." [HPO:sdoelken] synonym: "Webbed 1st-4th finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023729 is_a: HP:0006101 ! Finger syndactyly created_by: sdoelken creation_date: 2010-03-26T05:12:44Z [Term] id: HP:0010708 name: 1-5 finger syndactyly def: "Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand)." [HPO:sdoelken] synonym: "Webbed 1st-5th fingers" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023728 is_a: HP:0006101 ! Finger syndactyly created_by: sdoelken creation_date: 2010-03-26T05:12:44Z [Term] id: HP:0010709 name: 2-4 finger syndactyly alt_id: HP:0005797 alt_id: HP:0006018 def: "Syndactyly with fusion of the fingers two to four." [HPO:sdoelken] synonym: "Syndactyly of second to fourth fingers" EXACT [] synonym: "Webbed index through ring fingers" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021236 is_a: HP:0006101 ! Finger syndactyly created_by: sdoelken creation_date: 2010-03-26T05:12:44Z [Term] id: HP:0010710 name: 3-5 finger syndactyly def: "Syndactyly with fusion of fingers three to five." [HPO:sdoelken] synonym: "Webbed third, fourth and fifth toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023727 is_a: HP:0006101 ! Finger syndactyly created_by: sdoelken creation_date: 2010-03-26T05:12:44Z [Term] id: HP:0010711 name: 1-2 toe syndactyly def: "Syndactyly with fusion of toes one and two." [HPO:sdoelken] synonym: "Webbed first and second toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023726 is_a: HP:0001770 ! Toe syndactyly created_by: sdoelken creation_date: 2010-03-26T05:22:26Z [Term] id: HP:0010712 name: 1-4 toe syndactyly def: "Syndactyly with fusion of toes one to four." [HPO:sdoelken] synonym: "Webbed first through fourth toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023725 is_a: HP:0001770 ! Toe syndactyly created_by: sdoelken creation_date: 2010-03-26T05:22:26Z [Term] id: HP:0010713 name: 1-5 toe syndactyly alt_id: HP:0005812 def: "Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot)." [HPO:sdoelken] synonym: "Syndactyly of all toes" EXACT [] synonym: "Webbed 1st-5th toes" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021235 is_a: HP:0001770 ! Toe syndactyly created_by: sdoelken creation_date: 2010-03-26T05:22:26Z [Term] id: HP:0010714 name: 2-4 toe syndactyly alt_id: HP:0005642 alt_id: HP:0005708 def: "Syndactyly with fusion of toes two to four." [HPO:sdoelken] synonym: "Syndactyly of toes 2, 3 and 4" EXACT [] synonym: "Syndactyly toes 2-4" EXACT [] synonym: "Webbed 2nd-4th toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021234 is_a: HP:0001770 ! Toe syndactyly created_by: sdoelken creation_date: 2010-03-26T05:22:26Z [Term] id: HP:0010715 name: 2-5 toe syndactyly def: "Syndactyly with fusion of toes two to five." [HPO:sdoelken] synonym: "Webbed 2nd-5th toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023724 is_a: HP:0001770 ! Toe syndactyly created_by: sdoelken creation_date: 2010-03-26T05:22:26Z [Term] id: HP:0010716 name: 3-5 toe syndactyly def: "Syndactyly with fusion of toes three to five." [HPO:sdoelken] synonym: "Webbed 3rd-5th toes" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023723 is_a: HP:0001770 ! Toe syndactyly created_by: sdoelken creation_date: 2010-03-26T05:22:26Z [Term] id: HP:0010717 name: Osseous syndactyly of toes def: "Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \"Symphalangism\"." [HPO:sdoelken] subset: hposlim_core synonym: "Osseous syndactyly of the toes" EXACT [] xref: SNOMEDCT_US:32113001 xref: SNOMEDCT_US:38859008 xref: UMLS:C0158738 is_a: HP:0001770 ! Toe syndactyly created_by: sdoelken creation_date: 2010-03-26T05:31:50Z [Term] id: HP:0010719 name: Abnormality of hair texture alt_id: HP:0002295 alt_id: HP:0003776 def: "An abnormality of the texture of the hair." [HPO:probinson] synonym: "Abnormality of hair consistency" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of hair curl pattern" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of hair texture" EXACT layperson [] synonym: "Abnormality of hair volume" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023722 xref: UMLS:C4072880 xref: UMLS:C4072881 xref: UMLS:C4073290 is_a: HP:0001595 ! Abnormal hair morphology created_by: sdoelken creation_date: 2010-04-20T09:41:53Z [Term] id: HP:0010720 name: Abnormal hair pattern def: "An abnormality of the distribution of hair growth." [HPO:probinson] synonym: "Abnormal distribution of hair" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormal hair pattern" EXACT layperson [] xref: UMLS:C4023721 is_a: HP:0001595 ! Abnormal hair morphology created_by: sdoelken creation_date: 2010-04-20T09:53:15Z [Term] id: HP:0010721 name: Abnormal hair whorl def: "An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair)." [HPO:probinson] synonym: "Abnormal hair whorl" EXACT layperson [] synonym: "Abnormal hair whorls" EXACT layperson [HPO:skoehler] synonym: "Abnormal whorl of hair" EXACT layperson [] xref: UMLS:C3280303 is_a: HP:0011361 ! Congenital abnormal hair pattern created_by: sdoelken creation_date: 2010-04-20T10:05:04Z [Term] id: HP:0010722 name: Asymmetry of the ears def: "An asymmetriy, i.e., difference in size, shape or position between the left and right ear." [HPO:probinson] subset: hposlim_core synonym: "Asymmetric ears" EXACT layperson [] xref: UMLS:C1168239 is_a: HP:0000357 ! Abnormal location of ears is_a: HP:0000377 ! Abnormality of the pinna created_by: sdoelken creation_date: 2010-04-20T10:11:45Z [Term] id: HP:0010723 name: Cystic lesions of the pinnae alt_id: HP:0008557 xref: UMLS:C4023720 is_a: HP:0000377 ! Abnormality of the pinna created_by: sdoelken creation_date: 2010-04-20T10:17:01Z [Term] id: HP:0010724 name: Advanced pneumatization of the mastoid process def: "An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms." [HPO:probinson] subset: hposlim_core xref: UMLS:C4021828 is_a: HP:0000264 ! Abnormality of the mastoid created_by: sdoelken creation_date: 2010-04-20T10:38:57Z [Term] id: HP:0010726 name: Prominent corneal nerve fibers def: "Abnormal prominence of the corneal nerve fibers." [DDD:ncarter, HPO:probinson] synonym: "Visible corneal nerve fibers" EXACT [] xref: UMLS:C4021233 is_a: HP:0011492 ! Abnormality of corneal stroma created_by: sdoelken creation_date: 2010-04-20T10:52:24Z [Term] id: HP:0010727 name: Spontaneous rupture of the globe def: "Rupture of the eyeball not due to trauma." [HPO:probinson] subset: hposlim_core xref: UMLS:C4023719 is_a: HP:0012372 ! Abnormal eye morphology created_by: sdoelken creation_date: 2010-04-20T11:05:28Z [Term] id: HP:0010728 name: Aplasia of the retina def: "A developmental defect characterized by absence of the retina." [HPO:probinson] synonym: "Absent retina" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023718 is_a: HP:0008061 ! Aplasia/Hypoplasia of the retina created_by: sdoelken creation_date: 2010-04-20T11:09:59Z [Term] id: HP:0010729 name: Cherry red spot of the macula def: "Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula." [HPO:probinson] synonym: "Macular cherry red spot" EXACT [] xref: UMLS:C2216370 is_a: HP:0000630 ! Abnormal retinal artery morphology created_by: sdoelken creation_date: 2010-04-20T11:14:11Z [Term] id: HP:0010730 name: Double eyebrow def: "This may present as a partial or complete duplication of the eyebrows." [HPO:sdoelken] comment: Double eyebrow is commonly a feature of Mowat Wilson syndrome. subset: hposlim_core synonym: "Double eyebrow" EXACT layperson [] synonym: "Duplication of eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:253209004 xref: UMLS:C0431449 is_a: HP:0000534 ! Abnormal eyebrow morphology created_by: doelkens creation_date: 2010-04-21T04:16:59Z [Term] id: HP:0010731 name: Extension of eyebrows towards upper eyelid def: "The eyebrows extend towards - or even all the way down to - the margin of the upper eyelid." [HPO:sdoelken] comment: This is commonly a feature of Jacobson syndrome. synonym: "Extension of eyebrows towards upper eyelid" EXACT layperson [] xref: UMLS:C4023717 is_a: HP:0011229 ! Broad eyebrow created_by: doelkens creation_date: 2010-04-21T04:46:32Z [Term] id: HP:0010732 name: Nodular changes affecting the eyelids def: "Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more." [HPO:sdoelken] synonym: "Eyelid nodules" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023716 is_a: HP:0000492 ! Abnormal eyelid morphology is_a: HP:0200036 ! Skin nodule created_by: doelkens creation_date: 2010-04-21T05:11:04Z [Term] id: HP:0010733 name: Naevus flammeus of the eyelid def: "Naevus flammeus localised in the skin of the eyelid." [HPO:sdoelken] synonym: "Port-wine stain on eyelid" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1854409 is_a: HP:0001052 ! Nevus flammeus created_by: doelkens creation_date: 2010-04-21T05:18:41Z [Term] id: HP:0010734 name: Fibrous dysplasia of the bones def: "Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia)." [HPO:sdoelken] xref: MSH:D005357 xref: SNOMEDCT_US:10623005 xref: UMLS:C0016063 is_a: HP:0003330 ! Abnormal bone structure created_by: doelkens creation_date: 2010-04-21T06:27:42Z [Term] id: HP:0010735 name: Polyostotic fibrous dysplasia def: "Fibrous dysplasia of the bones were lesions are localized in many bones throughout of the body. Polyostotic fibrous dysplasia is a cardinal feature of McCune-Albright syndrome." [HPO:sdoelken] xref: MSH:D005359 xref: SNOMEDCT_US:36517007 xref: UMLS:C0016065 is_a: HP:0010734 ! Fibrous dysplasia of the bones created_by: doelkens creation_date: 2010-04-21T06:31:50Z [Term] id: HP:0010736 name: Monostotic fibrous dysplasia def: "Fibrous dysplasia of the bones were lesions are localized in only one bone." [HPO:sdoelken] xref: MSH:D005358 xref: SNOMEDCT_US:89859004 xref: UMLS:C0016064 is_a: HP:0010734 ! Fibrous dysplasia of the bones created_by: doelkens creation_date: 2010-04-21T06:31:50Z [Term] id: HP:0010739 name: Osteopoikilosis def: "Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake." [HPO:sdoelken] xref: MSH:D010023 xref: SNOMEDCT_US:9147009 xref: UMLS:C0029455 is_a: HP:0011001 ! Increased bone mineral density created_by: doelkens creation_date: 2010-04-21T07:19:11Z [Term] id: HP:0010740 name: Osteopathia striata def: "A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance." [HPO:sdoelken] xref: SNOMEDCT_US:82663009 xref: UMLS:C0265513 is_a: HP:0031367 ! Metaphyseal striations created_by: doelkens creation_date: 2010-04-21T07:30:24Z [Term] id: HP:0010741 name: Pedal edema def: "An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg." [HPO:probinson] synonym: "Bipedal edema" EXACT HP:0045078 [] synonym: "Edema of the lower limbs" EXACT [] synonym: "Fluid accumulation in lower limbs" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Leg edema" EXACT [] synonym: "Lower leg swelling" EXACT layperson [] synonym: "Peripheral edema of lower extremity" EXACT [] xref: SNOMEDCT_US:102572006 xref: UMLS:C0235886 xref: UMLS:C0239340 is_a: HP:0000969 ! Edema is_a: HP:0002814 ! Abnormality of the lower limb created_by: doelkens creation_date: 2010-04-22T02:16:54Z [Term] id: HP:0010742 name: Edema of the upper limbs def: "An abnormal accumulation of fluid beneath the skin of the arms." [HPO:probinson] synonym: "Fluid accumulation in upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:102558002 xref: UMLS:C0522035 is_a: HP:0000969 ! Edema is_a: HP:0002817 ! Abnormality of the upper limb created_by: doelkens creation_date: 2010-04-22T02:17:15Z [Term] id: HP:0010743 name: Short metatarsal alt_id: HP:0001779 alt_id: HP:0001865 alt_id: HP:0003092 alt_id: HP:0004706 alt_id: HP:0005754 def: "Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe." [HPO:probinson, pmid:19125433] comment: This is a subjective assessment and one generally compares the position of the MTP joint to that of the contralateral digit or the putatively shortened ray in proportion to the other rays. The affected digits should be specified. subset: hposlim_core synonym: "Hypoplasia of the metatarsal bones" EXACT [] synonym: "Hypoplastic metatarsals" EXACT [] synonym: "Short long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short metatarsal bone" EXACT [] synonym: "Short metatarsal bones" RELATED [HPO:skoehler] synonym: "Short metatarsals" EXACT [] synonym: "Shortened metatarsals" EXACT [] xref: UMLS:C1849020 is_a: HP:0001964 ! Aplasia/Hypoplasia of metatarsal bones is_a: HP:0003026 ! Short long bone is_a: HP:0040066 ! Abnormal morphology of bones of the lower limbs created_by: doelkens creation_date: 2010-04-22T04:30:18Z [Term] id: HP:0010744 name: Absent metatarsal bone def: "A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone." [HPO:probinson] synonym: "Absent long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia of the metatarsal bones" EXACT [] xref: UMLS:C4021232 is_a: HP:0001964 ! Aplasia/Hypoplasia of metatarsal bones created_by: doelkens creation_date: 2010-04-22T04:30:18Z [Term] id: HP:0010745 name: Aplasia of the phalanges of the toes def: "Absence of a digit or of one or more phalanges of a toe." [HPO:probinson] synonym: "Absent bones of the toes" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aphalangia of the toes" EXACT [] xref: UMLS:C4021231 is_a: HP:0009817 ! Aplasia involving bones of the lower limbs is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes created_by: doelkens creation_date: 2010-04-22T04:33:06Z [Term] id: HP:0010746 name: Hypoplasia of the phalanges of the toes synonym: "Small toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023715 is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes created_by: doelkens creation_date: 2010-04-22T04:33:06Z [Term] id: HP:0010747 name: Medial flaring of the eyebrow def: "An abnormal distribution of eyebrow hair growth in the medial direction." [HPO:probinson] subset: hposlim_core xref: UMLS:C1844562 is_a: HP:0000534 ! Abnormal eyebrow morphology created_by: sdoelken creation_date: 2010-04-23T09:29:58Z [Term] id: HP:0010748 name: Ectopic lacrimal punctum def: "Positioning of a lacrimal punctum other than at the medial margins of the eyelid." [pmid:19125427] comment: The openings of the tear ducts are normally located at the medial margin of each eyelid. The opening on the lower eyelid border is more visible than the opening on the upper eyelid border. Ectopic positions can include the upper eyelid, nasal bridge, or inferior to medial aspect of the lower lid. subset: hposlim_core synonym: "Abnormal position of the lacrimal punctum" EXACT [] xref: UMLS:C4021230 is_a: HP:0011479 ! Abnormal lacrimal punctum morphology created_by: sdoelken creation_date: 2010-04-23T09:35:56Z [Term] id: HP:0010749 name: Blepharochalasis def: "Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads." [PMID:3207663] comment: Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads. Most of these atrophic patients do not go through a hypertrophic phase. Multiple attacks of eyelid edema result in thinning, stretching, and atrophy of eyelid tissues. The eyelid skin becomes redundant, discolored, and atrophic, appearing like wrinkled cigarette paper. The upper eyelids are more commonly affected, but the lower eyelids may also be involved. Blepharochalasis is not synonymous with dermatochalasis. subset: hposlim_core synonym: "Saggy upper eyelid skin" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:47704002 xref: UMLS:C0005742 is_a: HP:0100540 ! Palpebral edema created_by: sdoelken creation_date: 2010-04-23T09:53:13Z [Term] id: HP:0010750 name: Dermatochalasis def: "Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge." [HPO:probinson] synonym: "Baggy eyes" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Droopy eyelid skin" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Extra eyelid skin" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Eyelid dermatochalasia" EXACT [] synonym: "Hooding of eyelids" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Redundant eyelid skin" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:246815009 xref: UMLS:C0423124 xref: UMLS:C2674149 is_a: HP:0000492 ! Abnormal eyelid morphology created_by: sdoelken creation_date: 2010-04-23T10:07:56Z [Term] id: HP:0010751 name: Dimple chin def: "A persistent midline depression of the skin over the fat pad of the chin." [pmid:19125436] subset: hposlim_core synonym: "Chin butt" EXACT layperson [] synonym: "Chin dent" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Chin dimple" EXACT layperson [] synonym: "Chin dimples" RELATED layperson [HPO:skoehler] synonym: "Chin skin dimple" EXACT layperson [] synonym: "Dimple chin" EXACT layperson [] synonym: "Gelasin of chin" EXACT [ORCID:0000-0001-5889-4463] synonym: "Indentation of chin" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1849227 is_a: HP:0000306 ! Abnormality of the chin created_by: sdoelken creation_date: 2010-04-23T10:29:03Z [Term] id: HP:0010752 name: Cleft mandible def: "Midline deficiency of the mandible and some or all overlying tissues." [pmid:19125436] subset: hposlim_core synonym: "Cleft lower jaw" EXACT layperson [] synonym: "Mandibular cleft" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:92822004 xref: UMLS:C0685786 is_a: HP:0010753 ! Midline defect of mandible created_by: sdoelken creation_date: 2010-04-23T10:32:09Z [Term] id: HP:0010753 name: Midline defect of mandible synonym: "Midline cleft of mandible" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023714 is_a: HP:0000277 ! Abnormality of the mandible created_by: sdoelken creation_date: 2010-04-23T10:32:46Z [Term] id: HP:0010754 name: Abnormality of the temporomandibular joint def: "An anomaly of the temporomandibular joint." [HPO:probinson] synonym: "Abnormality of the jaw joint" EXACT layperson [] synonym: "Anomaly of the temporomandibular joint" EXACT [ORCID:0000-0001-5889-4463] synonym: "Deformity of the jaw joint" EXACT layperson [] synonym: "Deformity of the temporomandibular joint" NARROW [ORCID:0000-0001-5889-4463] synonym: "Derangement of the temporomandibular joint" NARROW [ORCID:0000-0001-5889-4463] synonym: "Malformation of jaw joint" EXACT layperson [] synonym: "Malformation of the temporomandibular joint" NARROW layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:248401009 xref: SNOMEDCT_US:75630004 xref: UMLS:C0266941 xref: UMLS:C0424721 xref: UMLS:C1865318 xref: UMLS:C4280366 is_a: HP:0000277 ! Abnormality of the mandible created_by: sdoelken creation_date: 2010-04-23T10:36:28Z [Term] id: HP:0010755 name: Asymmetry of the maxilla def: "Asymmetry between the left and right sides of the maxilla." [ORCID:0000-0001-5889-4463] subset: hposlim_core synonym: "Asymmetry of right and left side of the maxilla" EXACT [ORCID:0000-0001-5889-4463] synonym: "Asymmetry of the upper jaw" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Asymmetry of upper jaw" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Canted maxilla" EXACT [ORCID:0000-0001-5889-4463] synonym: "Canted upper jaw" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Crooked maxilla" EXACT [ORCID:0000-0001-5889-4463] synonym: "Crooked upper jaw" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Deviation of the maxilla" RELATED [ORCID:0000-0001-5889-4463] synonym: "Deviation of the upper jaw" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Tilted maxilla" EXACT [ORCID:0000-0001-5889-4463] synonym: "Tilted upper jaw" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Unequal sides of maxilla" EXACT [ORCID:0000-0001-5889-4463] synonym: "Uneven maxilla" EXACT [ORCID:0000-0001-5889-4463] synonym: "Uneven upper jaw" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:235083001 xref: UMLS:C0399519 is_a: HP:0000326 ! Abnormality of the maxilla created_by: sdoelken creation_date: 2010-04-23T10:38:44Z [Term] id: HP:0010756 name: Aplasia/Hypoplasia of the premaxilla def: "Absence or underdevelopment of the premaxilla." [HPO:probinson] synonym: "Aplasia/hypoplasia of the intermaxillary bone" EXACT [ORCID:0000-0001-5889-4463] synonym: "Aplasia/hypoplasia of the primary palate bone" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023713 is_a: HP:0010758 ! Abnormality of the premaxilla created_by: sdoelken creation_date: 2010-04-23T10:40:40Z [Term] id: HP:0010757 name: Aplasia of the premaxilla def: "Absence of the Premaxilla, which is the embryonic structure that forms the anterior part of the maxilla." [HPO:probinson] synonym: "Absence of the intermaxillary bone" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Absence of the premaxilla" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Absence of the primary palate bone" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Aplasia of the intermaxillary bone" EXACT [ORCID:0000-0001-5889-4463] synonym: "Aplasia of the primary palate bone" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of premaxilla" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of the primary palate bone" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing premaxilla" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Missing primary palate bone" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023712 is_a: HP:0010756 ! Aplasia/Hypoplasia of the premaxilla is_a: HP:0040008 ! Aplasia of facial bones created_by: sdoelken creation_date: 2010-04-23T10:42:17Z [Term] id: HP:0010758 name: Abnormality of the premaxilla def: "An abnormality of the premaxilla [UBERON_0002244], the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate." [HPO:sdoelken, ORCID:0000-0001-5889-4463] synonym: "Abnormality of the intermaxillary bone" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the intermaxillary segment of the maxilla" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the premaxillary bone" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the primary palate bone" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023711 is_a: HP:0000326 ! Abnormality of the maxilla created_by: sdoelken creation_date: 2010-04-23T10:59:07Z [Term] id: HP:0010759 name: Prominence of the premaxilla def: "Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla." [HPO:sdoelken, ORCID:0000-0001-5889-4463, pmid:19125436] comment: As a consequence of prominence of the premaxilla, the overlying structures, the nose and philtrum, may appear prominent. There is increased convexity of the face and an increased nasolabial angle. In the presence of a normal sized mandible, retrognathia may be appreciated. subset: hposlim_core synonym: "Anterior position of the premaxilla" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Anterior position of the primary palate bone" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Premaxillary bone excess" EXACT [ORCID:0000-0001-5889-4463] synonym: "Prominence of the intermaxillary bone" EXACT [ORCID:0000-0001-5889-4463] synonym: "Prominence of the primary palate bone" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C2749369 is_a: HP:0010758 ! Abnormality of the premaxilla created_by: sdoelken creation_date: 2010-04-23T11:01:23Z [Term] id: HP:0010760 name: Absent toe alt_id: HP:0008084 alt_id: HP:0010108 alt_id: HP:0011306 def: "Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues." [HPO:probinson] comment: This descriptor does NOT require absence of the metatarsal. The definition excludes partial absent hallux. subset: hposlim_core synonym: "Absent toe" EXACT layperson [] synonym: "Absent toes" RELATED layperson [HPO:skoehler] synonym: "Aplasia of the toes" RELATED [] synonym: "Aplasia of toe" EXACT [] xref: UMLS:C3553754 is_a: HP:0001991 ! Aplasia/Hypoplasia of toe created_by: doelkens creation_date: 2010-04-23T03:58:25Z [Term] id: HP:0010761 name: Broad columella def: "Increased width of the columella." [pmid:19152422] subset: hposlim_core synonym: "Columella, broad" EXACT [] synonym: "Columella, wide" EXACT [] synonym: "Fullness of columella" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hyperplasia of columella" RELATED [ORCID:0000-0001-5889-4463] synonym: "Increased width of columella" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1851059 xref: UMLS:C4280365 is_a: HP:0009929 ! Abnormality of the columella created_by: peter creation_date: 2010-04-24T11:52:54Z [Term] id: HP:0010762 name: Chordoma def: "A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis." [HPO:probinson] comment: The notochord is a mesodermal embryonic structure that defines the primitive axis of the embryo and which survives in the adult vertebral column as the intervertebral disks. xref: MSH:D002817 xref: NCIT:C2947 xref: SNOMEDCT_US:50007008 xref: UMLS:C0008487 is_a: HP:0010622 ! Neoplasm of the skeletal system created_by: peter creation_date: 2010-06-25T09:00:39Z [Term] id: HP:0010763 name: Low insertion of columella def: "Insertion of the posterior columella below the nasal base." [pmid:19152422] comment: This feature is different from a convex Low hanging columella that has a normal insertion. It may be associated with a Short philtrum, but this should be assessed and coded separately. A low insertion is best appreciated when viewed from the side. subset: hposlim_core synonym: "Ala higher than columella" BROAD [ORCID:0000-0001-5889-4463] synonym: "Columella, low insertion" EXACT [] xref: UMLS:C4021229 xref: UMLS:C4280364 is_a: HP:0009929 ! Abnormality of the columella created_by: peter creation_date: 2010-04-24T12:12:25Z [Term] id: HP:0010764 name: Short eyelashes def: "Decreased length of the eyelashes (subjective)." [HPO:probinson] comment: Normal values are 7.99 - 1.05 mm in boys and 7.76 - 1.03 mm in girls. synonym: "Decreased length of eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Short eyelashes" EXACT layperson [] xref: UMLS:C2748682 is_a: HP:0000499 ! Abnormal eyelash morphology created_by: peter creation_date: 2010-04-24T03:31:00Z [Term] id: HP:0010765 name: Palmar hyperkeratosis def: "Hyperkeratosis affecting the palm of the hand." [HPO:probinson] xref: UMLS:C4023710 is_a: HP:0000962 ! Hyperkeratosis is_a: HP:0040211 ! Abnormality of the skin of the palm created_by: peter creation_date: 2010-04-24T03:53:19Z [Term] id: HP:0010766 name: Ectopic calcification def: "Deposition of calcium salts in a tissue or location in which calcification does not normally occur." [HPO:probinson] xref: UMLS:C3806226 is_a: HP:0000924 ! Abnormality of the skeletal system created_by: doelkens creation_date: 2010-04-27T09:52:59Z [Term] id: HP:0010767 name: Sacrococcygeal pilonidal abnormality def: "The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds." [HPO:probinson] xref: UMLS:C4023709 is_a: HP:0005107 ! Abnormal sacrum morphology created_by: sdoelken creation_date: 2010-04-29T09:45:21Z [Term] id: HP:0010769 name: Pilonidal sinus alt_id: HP:0010768 def: "A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris." [HPO:probinson] subset: hposlim_core synonym: "Pilonidal cyst" EXACT [] xref: MSH:D010864 xref: SNOMEDCT_US:47639008 xref: UMLS:C0031925 is_a: HP:0010767 ! Sacrococcygeal pilonidal abnormality created_by: sdoelken creation_date: 2010-04-29T09:55:15Z [Term] id: HP:0010770 name: Pilonidal fistula xref: MSH:D010864 xref: SNOMEDCT_US:47639008 xref: UMLS:C0031925 is_a: HP:0010767 ! Sacrococcygeal pilonidal abnormality created_by: sdoelken creation_date: 2010-04-29T09:55:15Z [Term] id: HP:0010771 name: Pilonidal abscess def: "A hair-containing cyst or sinus usually in the coccygeal region." [HPO:probinson] synonym: "Sacrococcygeal fistula" EXACT [] xref: SNOMEDCT_US:85224001 xref: UMLS:C3537055 is_a: HP:0010767 ! Sacrococcygeal pilonidal abnormality is_a: HP:0031292 ! Cutaneous abscess created_by: sdoelken creation_date: 2010-04-29T09:55:15Z [Term] id: HP:0010772 name: Anomalous pulmonary venous return def: "A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood." [HPO:probinson] xref: MSH:D012587 xref: SNOMEDCT_US:111323005 xref: SNOMEDCT_US:39905002 xref: UMLS:C0036400 is_a: HP:0030968 ! Abnormal pulmonary vein morphology created_by: sdoelken creation_date: 2010-04-29T10:02:26Z [Term] id: HP:0010773 name: Partial anomalous pulmonary venous return def: "A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung." [HPO:probinson] synonym: "Partial anomalous pulmonary venous connection" EXACT [] xref: Fyler:2030 xref: SNOMEDCT_US:68237008 xref: UMLS:C0158634 is_a: HP:0010772 ! Anomalous pulmonary venous return created_by: sdoelken creation_date: 2010-04-29T10:03:02Z [Term] id: HP:0010774 name: Cor triatriatum def: "The presence of an additional membrane in the left or right cardiac atrium which results in the subdivision of the affected atrium (and thus in total three atria, whence the name)." [DDD:dbrown, HPO:probinson] synonym: "Triatrial heart" EXACT [] xref: Fyler:3031 xref: ICD-10:Q24.2 xref: UMLS:C4023708 is_a: HP:0005120 ! Abnormal cardiac atrium morphology created_by: sdoelken creation_date: 2010-04-29T10:07:24Z [Term] id: HP:0010775 name: Vascular ring def: "A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails." [HPO:probinson] synonym: "Vascular ring of aorta" EXACT [] xref: Fyler:2760 xref: SNOMEDCT_US:110409004 xref: SNOMEDCT_US:66403007 xref: UMLS:C0221214 is_a: HP:0011587 ! Abnormal branching pattern of the aortic arch created_by: sdoelken creation_date: 2010-04-29T10:18:47Z [Term] id: HP:0010776 name: Tracheobronchmegaly def: "Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection." [HPO:probinson] comment: Tracheobronchmegaly is typically characterized by atrophy or absence of elastic fibers and thinning of smooth muscle layers in the trachea and main bronchi. xref: UMLS:C4023707 is_a: HP:0010777 ! Bronchomegaly is_a: HP:0010778 ! Tracheomegaly created_by: sdoelken creation_date: 2010-04-29T10:22:55Z [Term] id: HP:0010777 name: Bronchomegaly def: "Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection." [HPO:probinson] xref: UMLS:C4023706 is_a: HP:0025426 ! Abnormal bronchus morphology created_by: sdoelken creation_date: 2010-04-29T10:25:22Z [Term] id: HP:0010778 name: Tracheomegaly def: "Marked widening of the trachea." [HPO:probinson] xref: UMLS:C4023705 is_a: HP:0002778 ! Abnormal trachea morphology created_by: sdoelken creation_date: 2010-04-29T10:28:51Z [Term] id: HP:0010779 name: Large pelvis bone def: "The presence of an abnormally large pelvis." [HPO:probinson] subset: hposlim_core synonym: "Large pelvis" BROAD layperson [HPO:skoehler] synonym: "Large pelvis bone" EXACT layperson [] xref: UMLS:C4019074 xref: UMLS:C4072882 is_a: HP:0040163 ! Abnormal pelvis bone morphology created_by: sdoelken creation_date: 2010-04-29T11:03:39Z [Term] id: HP:0010780 name: Hyperacusis def: "Over-sensitivity to certain frequency ranges of sound." [HPO:probinson, PMID:14647932] comment: Hyperacusis refers to a general hypersensitivity to sound of any frequency, and phonophobia to an anxious sensitivity towards specific sound largely independent of its volume. Hyperacusis and phonophobia represent disturbances of central auditory processing without peripheral pathology, often combined with psychosomatic reactions. subset: hposlim_core xref: MSH:D012001 xref: SNOMEDCT_US:194399009 xref: SNOMEDCT_US:25289003 xref: UMLS:C0034880 is_a: HP:0025112 ! Sound sensitivity created_by: doelkens creation_date: 2010-04-29T04:42:44Z [Term] id: HP:0010781 name: Skin dimple def: "Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation." [HPO:probinson] synonym: "Skin dimples" EXACT layperson [] xref: SNOMEDCT_US:301854006 xref: UMLS:C0578531 is_a: HP:0011355 ! Localized skin lesion created_by: peter creation_date: 2010-04-30T11:34:41Z [Term] id: HP:0010782 name: Shoulder dimple def: "A subtype of skin dimples occurring in the shoulder region." [HPO:probinson, PMID:22679172] comment: Symmetrical dimples of the skin overlying the acromial process of the scapulae are called bi-acromial dimples. synonym: "Acromial dimple" EXACT [] synonym: "Bi-acromial dimples" EXACT HP:0045078 [] synonym: "Shoulder dimples" EXACT layperson [] xref: UMLS:C4023704 is_a: HP:0010781 ! Skin dimple created_by: peter creation_date: 2010-04-30T11:36:51Z [Term] id: HP:0010783 name: Erythema def: "Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin." [HPO:probinson] subset: hposlim_core synonym: "Redness of skin or mucous membrane" EXACT [] xref: MSH:D004890 xref: MSH:D005483 xref: SNOMEDCT_US:20255002 xref: SNOMEDCT_US:238810007 xref: SNOMEDCT_US:247441003 xref: SNOMEDCT_US:271811009 xref: SNOMEDCT_US:444827008 xref: SNOMEDCT_US:70819003 xref: SNOMEDCT_US:86735004 xref: UMLS:C0016382 xref: UMLS:C0041834 is_a: HP:0011276 ! Vascular skin abnormality created_by: peter creation_date: 2010-04-30T11:40:43Z [Term] id: HP:0010784 name: Uterine neoplasm def: "A tumor (abnormal growth of tissue) of the uterus." [HPO:probinson] synonym: "Uterine cancer" BROAD layperson [] synonym: "Uterine neoplasia" RELATED [] synonym: "Uterine tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D014594 xref: NCIT:C3262 xref: SNOMEDCT_US:126908007 xref: UMLS:C0042138 is_a: HP:0010787 ! Genital neoplasm is_a: HP:0031105 ! Abnormal uterus morphology created_by: sdoelken creation_date: 2010-05-04T09:35:15Z [Term] id: HP:0010785 name: Gonadal neoplasm def: "A tumor (abnormal growth of tissue) of a gonad." [HPO:probinson] synonym: "Gonadal neoplasia" EXACT [] xref: NCIT:C3262 xref: UMLS:C4021228 is_a: HP:0010787 ! Genital neoplasm created_by: sdoelken creation_date: 2010-05-04T09:44:41Z [Term] id: HP:0010786 name: Urinary tract neoplasm def: "The presence of a neoplasm of the urinary system." [HPO:probinson] synonym: "Urinary tract neoplasia" RELATED [] xref: MSH:D014571 xref: NCIT:C3262 xref: SNOMEDCT_US:126879004 xref: SNOMEDCT_US:254913005 xref: UMLS:C0042076 is_a: HP:0007379 ! Neoplasm of the genitourinary tract created_by: sdoelken creation_date: 2010-05-04T09:45:25Z [Term] id: HP:0010787 name: Genital neoplasm def: "A tumor (abnormal growth of tissue) of the genital system." [HPO:probinson] synonym: "Genital neoplasia" RELATED [] synonym: "Genital tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: NCIT:C3262 xref: UMLS:C0679347 xref: UMLS:C4020767 is_a: HP:0000078 ! Abnormality of the genital system is_a: HP:0007379 ! Neoplasm of the genitourinary tract created_by: sdoelken creation_date: 2010-05-04T09:47:50Z [Term] id: HP:0010788 name: Testicular neoplasm def: "The presence of a neoplasm of the testis." [HPO:probinson] synonym: "Testicular cancer" BROAD layperson [] synonym: "Testicular neoplasia" RELATED [] synonym: "Testicular tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D013736 xref: NCIT:C3262 xref: SNOMEDCT_US:126900000 xref: UMLS:C0039590 is_a: HP:0000035 ! Abnormal testis morphology is_a: HP:0010785 ! Gonadal neoplasm is_a: HP:0100848 ! Neoplasm of the male external genitalia created_by: sdoelken creation_date: 2010-05-04T09:48:35Z [Term] id: HP:0010789 name: Abnormality of the Leydig cells xref: UMLS:C4023703 is_a: HP:0000035 ! Abnormal testis morphology created_by: sdoelken creation_date: 2010-05-04T09:50:45Z [Term] id: HP:0010790 name: Hyoplasia of the Leydig cells def: "Underdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone." [HPO:probinson] xref: UMLS:C4023702 is_a: HP:0010789 ! Abnormality of the Leydig cells created_by: sdoelken creation_date: 2010-05-04T09:51:03Z [Term] id: HP:0010791 name: Hyperplasia of the Leydig cells def: "Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone." [HPO:probinson] xref: SNOMEDCT_US:76085008 xref: UMLS:C0023600 is_a: HP:0010789 ! Abnormality of the Leydig cells created_by: sdoelken creation_date: 2010-05-04T09:51:26Z [Term] id: HP:0010793 name: Bifid nail def: "A digit with two nails, with at least some soft tissue between them." [pmid:19125433] subset: hposlim_core synonym: "duplicated nail" EXACT [] synonym: "Notched nail" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:110992006 xref: UMLS:C0544857 is_a: HP:0002164 ! Nail dysplasia created_by: sdoelken creation_date: 2010-05-04T10:34:02Z [Term] id: HP:0010794 name: Impaired visuospatial constructive cognition def: "Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities)." [HPO:sdoelken, pmid:10521286] comment: The ability to see an object or picture as a set of parts and then to construct a replica of the original from these parts is known as visuospatial constructive cognition. Impaired visuospatial constructive cognition is one of the characteristic featrues of most patients with Williams-Beuren Syndrome. xref: UMLS:C4023701 is_a: HP:0001328 ! Specific learning disability created_by: sandra1 creation_date: 2010-05-10T01:43:01Z [Term] id: HP:0010795 name: Cerebellar glioma def: "A glioma affecting the cerebellum." [HPO:probinson] xref: UMLS:C4023700 is_a: HP:0009733 ! Glioma created_by: peter creation_date: 2010-06-25T09:08:32Z [Term] id: HP:0010796 name: Brainstem glioma def: "A glioma affecting the brainstem." [HPO:probinson] xref: SNOMEDCT_US:444545003 xref: UMLS:C0677865 is_a: HP:0009733 ! Glioma created_by: peter creation_date: 2010-06-25T09:10:45Z [Term] id: HP:0010797 name: Hemangioblastoma def: "A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter." [HPO:probinson] synonym: "Haemangioblastoma" EXACT [] xref: MSH:D018325 xref: NCIT:C3801 xref: SNOMEDCT_US:81201000 xref: UMLS:C0206734 is_a: HP:0100835 ! Benign neoplasm of the central nervous system created_by: peter creation_date: 2010-06-25T09:18:32Z [Term] id: HP:0010798 name: Lip freckle def: "Increased focal pigmentation of the vermilion of the lips." [pmid:19125428] comment: Lip freckles may be accompanied by Perioral hyperpigmentation, but this should be assessed separately. Lentigo is commonly used as a synonym for freckle in reference to the vermilion, but these are distinct terms when referring to the skin. subset: hposlim_core synonym: "Ephelis of lip" EXACT [ORCID:0000-0001-5889-4463] synonym: "Labial lentigo" EXACT [] synonym: "Lip freckle" EXACT layperson [] synonym: "Lip lentigo" EXACT [] xref: SNOMEDCT_US:239136007 xref: UMLS:C0406814 is_a: HP:0000159 ! Abnormal lip morphology created_by: peter creation_date: 2010-06-26T01:59:19Z [Term] id: HP:0010799 name: Pinealoma def: "A neoplasm of the pineal gland." [HPO:probinson] xref: MSH:D010871 xref: NCIT:C3328 xref: SNOMEDCT_US:127026004 xref: SNOMEDCT_US:359619007 xref: SNOMEDCT_US:47598005 xref: UMLS:C0031941 is_a: HP:0030063 ! Neuroepithelial neoplasm is_a: HP:0030693 ! Supratentorial neoplasm created_by: peter creation_date: 2010-06-25T09:27:58Z [Term] id: HP:0010800 name: Absent cupid's bow def: "Lack of paramedian peaks and median notch of the upper lip vermilion." [pmid:19125428] comment: This bow is often absent in a Thin vermilion of the upper lip, but that should be assessed separately. This finding is commonly associated with Smooth philtrum, but that should be coded separately. subset: hposlim_core synonym: "Absent cupid's bow" EXACT layperson [] synonym: "Agenesis of cupid's bow" EXACT [ORCID:0000-0001-5889-4463] synonym: "Aplasia of cupid's bow" RELATED [ORCID:0000-0001-5889-4463] synonym: "Failure of development of cupid's bow" EXACT [ORCID:0000-0001-5889-4463] synonym: "Lack of cupid's bow" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Missing cupid's bow" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C2053435 is_a: HP:0011339 ! Abnormality of upper lip vermillion created_by: peter creation_date: 2010-06-26T02:01:31Z [Term] id: HP:0010801 name: Underdeveloped nasolabial fold def: "Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure)." [pmid:19125428] subset: hposlim_core synonym: "Flat nasolabial fold" EXACT [ORCID:0000-0001-5889-4463] synonym: "Nasolabial crease, hypoplastic" EXACT [] synonym: "Nasolabial crease, underdeveloped" EXACT [] synonym: "Nasolabial fold, hypoplastic" EXACT [] synonym: "Shallow nasolabial fold" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4021227 is_a: HP:0005289 ! Abnormality of the nasolabial region created_by: peter creation_date: 2010-06-26T02:10:51Z [Term] id: HP:0010802 name: Perioral hyperpigmentation def: "Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips." [pmid:19125428] comment: Periorbital hyperpigmentation may be accompanied by Lip freckles, but this should be assessed separately. synonym: "Darkening of skin around the mouth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased pigmentation around the mouth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023699 is_a: HP:0001000 ! Abnormality of skin pigmentation created_by: peter creation_date: 2010-06-26T02:22:18Z [Term] id: HP:0010803 name: Everted upper lip vermilion def: "Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip." [HPO:probinson, pmid:19125428] comment: In frontal view, with the face relaxed, the apparent height of the upper lip vermilion is excessive and the upper incisors may be visible. On profile view, the vermilion is more convex than usual. An everted upper lip may be associated with a short philtrum, and may be secondary to protruded upper teeth, but these should be assessed and described separately. subset: hposlim_core synonym: "Drooping upper lip" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Eclabium of upper lip" EXACT [ORCID:0000-0001-5889-4463] synonym: "Everted prominent upper lip" EXACT [ORCID:0000-0001-5889-4463] synonym: "Everted upper lip" EXACT [ORCID:0000-0001-5889-4463] synonym: "Outward turned upper lip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Protruding upper lip" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C3275452 xref: UMLS:C4023698 xref: UMLS:C4280363 is_a: HP:0011339 ! Abnormality of upper lip vermillion is_a: HP:0012472 ! Eclabion created_by: peter creation_date: 2010-06-26T02:30:13Z [Term] id: HP:0010804 name: Tented upper lip vermilion alt_id: HP:0100895 def: "Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base." [pmid:19125428] comment: This finding is distinguished from an Exaggerated Cupid's bow by the alteration of the shape of the oral aperture. subset: hposlim_core synonym: "Inverted V-shaped upper lip" EXACT [] synonym: "Tented mouth" RELATED layperson [] synonym: "Tented upper lip" RELATED layperson [HPO:skoehler] xref: UMLS:C1839767 xref: UMLS:C1850072 xref: UMLS:C1853383 is_a: HP:0011339 ! Abnormality of upper lip vermillion created_by: peter creation_date: 2010-06-26T02:32:35Z [Term] id: HP:0010805 name: Upturned corners of mouth def: "Oral commissures positioned superior to the midline labial fissure." [pmid:19125428] comment: This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the upper lip is enlarged. subset: hposlim_core synonym: "Upturned corners of mouth" EXACT layperson [] synonym: "Upturned mouth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Upturned oral commisures" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C3553471 is_a: HP:0011338 ! Abnormality of mouth shape created_by: peter creation_date: 2010-06-26T03:17:08Z [Term] id: HP:0010806 name: U-Shaped upper lip vermilion alt_id: HP:0000186 def: "Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures." [pmid:19125428] comment: The U-shaped upper vermilion is a more rounded version of the Tented upper lip vermilion. In U-shaped upper vermilion there is loss of the central groove of the Cupid's bow. Replaces: Carpmouth; Fish mouth (pejorative terms). synonym: "Carp-like mouth" EXACT layperson [] synonym: "Carp-shaped mouth" EXACT layperson [] synonym: "Fish mouth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Large, carp-shaped mouth" EXACT layperson [] synonym: "Wide, carp-shaped mouth" EXACT layperson [] xref: UMLS:C1856202 is_a: HP:0011339 ! Abnormality of upper lip vermillion created_by: peter creation_date: 2010-06-26T03:25:01Z [Term] id: HP:0010807 name: Open bite def: "Visible space between the dental arches in occlusion." [pmid:19125428] comment: An open bite produces an absence of vertical overlap of the two dental arches. It may be associated with malocclusion, but this should be coded separately. Open bite can be accompanied by malocclusion, which is a complex bundled term. The Angle classification of malocclusion (Classes I-III) is widely used in the orthodontics community [Moyers, [1973]] for the characterization of malocclusion. subset: hposlim_core synonym: "Absence of overlap of upper and lower teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Open bite" EXACT layperson [] synonym: "Open bite between upper and lower teeth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D024343 xref: SNOMEDCT_US:35580009 xref: UMLS:C0266061 is_a: HP:0000692 ! Misalignment of teeth created_by: peter creation_date: 2010-07-02T09:30:43Z [Term] id: HP:0010808 name: Protruding tongue def: "Tongue extending beyond the alveolar ridges or teeth at rest." [pmid:19125428] comment: Protruding tongue may or may not be associated with a Large tongue, and that finding should be assessed and coded separately. subset: hposlim_core synonym: "Lingual prolapse" EXACT [ORCID:0000-0001-5889-4463] synonym: "Lingual prominence" EXACT [ORCID:0000-0001-5889-4463] synonym: "Lingual protrusion" EXACT [ORCID:0000-0001-5889-4463] synonym: "Prolapse of tongue" EXACT [ORCID:0000-0001-5889-4463] synonym: "Prominent tongue" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Protruding tongue" EXACT layperson [] synonym: "Tongue protrusion" EXACT [] synonym: "Tongue sticking out of mouth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:249872000 xref: SNOMEDCT_US:285503005 xref: UMLS:C0241442 is_a: HP:0030809 ! Abnormal tongue morphology created_by: peter creation_date: 2010-07-02T09:38:37Z [Term] id: HP:0010809 name: Broad uvula def: "Increased width of the uvula (subjective finding)." [pmid:19125428] comment: This finding often accompanies a Submucous cleft palate, but this should be coded separately. A longitudinal groove indicating incomplete fusion of the two parts of the uvula may be present with a broadened uvula and has sometimes been called abortive cleft uvula. subset: hposlim_core synonym: "Wide uvula" EXACT [] xref: UMLS:C3693299 is_a: HP:0000172 ! Abnormality of the uvula created_by: peter creation_date: 2010-07-05T10:22:01Z [Term] id: HP:0010810 name: Long uvula def: "Increased length of the uvula." [pmid:19125428] comment: In clinical practice, the size of the uvula cannot be easily measured and is not static, since it depends on the position of the soft palate, the base of the tongue, and the head. Therefore, judgment of change in length of the uvula depends heavily on the experience of the observer. subset: hposlim_core synonym: "Elongated uvula" RELATED [ORCID:0000-0001-5889-4463] synonym: "Hyperplasia of uvula" BROAD [ORCID:0000-0001-5889-4463] synonym: "Long palatine uvula" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023697 xref: UMLS:C4280362 is_a: HP:0000172 ! Abnormality of the uvula created_by: peter creation_date: 2010-07-05T10:23:52Z [Term] id: HP:0010811 name: Narrow uvula def: "Decreased width of the uvula." [pmid:19125428] subset: hposlim_core synonym: "Narrow palatine uvula" EXACT [ORCID:0000-0001-5889-4463] synonym: "Thin uvula" RELATED [ORCID:0000-0001-5889-4463] xref: UMLS:C4023696 is_a: HP:0000172 ! Abnormality of the uvula created_by: peter creation_date: 2010-07-05T10:25:14Z [Term] id: HP:0010812 name: Short uvula def: "Decreased length of the uvula." [pmid:19125428] comment: Objective measurement of the length of the uvula can be determined on a lateral cephalograms. However, in this series we are not relying on radiographs for assessment of findings. In clinical practice, the size of the uvula cannot be easily measured and is not static, since it depends on the position of the soft palate, the base of the tongue, and the head. Therefore, judgment of change in length of the uvula depends heavily on the experience of the observer. synonym: "Blunt uvula" RELATED [ORCID:0000-0001-5889-4463] synonym: "Hypoplastic uvula" EXACT [] synonym: "Short palatine uvula" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1401781 is_a: HP:0010293 ! Aplasia/Hypoplasia of the uvula created_by: peter creation_date: 2010-07-05T10:26:47Z [Term] id: HP:0010813 name: Abnormal number of hair whorls def: "More than two clockwise hair whorls." [pmid:19125436] comment: Most individuals have one clockwise hair whorl at a single point on the scalp lateral to the midline but close to the vertex of the skull. Five percent of the population has two whorls. A double hair whorl is sometimes referred to as a double crown. In 10%, whorl direction is counter-clockwise. subset: hposlim_core synonym: "Abnormal number of hair swirls" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormal number of hair whorls" EXACT layperson [] synonym: "Double crown (hair whorls)" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Extra hair swirls" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Extra hair whorl" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Supernumary hair swirls" EXACT [ORCID:0000-0001-5889-4463] synonym: "Supernumary hair whorl" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023695 is_a: HP:0010721 ! Abnormal hair whorl created_by: peter creation_date: 2010-07-05T11:12:26Z [Term] id: HP:0010814 name: Abnormal position of hair whorl def: "Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull." [pmid:19125436] comment: Placement of hair whorl should be described as parietal, vertex, eccentric, etc. In addition, the number of hair whorls should be noted. Five percent of the population has two whorls. subset: hposlim_core synonym: "Abnormal location of hair swirl" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormal position of hair whorl" EXACT layperson [] xref: UMLS:C4023694 is_a: HP:0010721 ! Abnormal hair whorl created_by: peter creation_date: 2010-07-05T11:13:42Z [Term] id: HP:0010815 name: Nevus sebaceous def: "A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly." [HPO:probinson] synonym: "Naevus sebaceous" EXACT [] synonym: "Organoid nevus" EXACT [] synonym: "Sebaceous mole" EXACT [ORCID:0000-0001-5208-3432] synonym: "Sebaceous naevus" EXACT [] synonym: "Sebaceous nevus" EXACT [] xref: MSH:D054000 xref: SNOMEDCT_US:239112008 xref: SNOMEDCT_US:52298009 xref: SNOMEDCT_US:707136009 xref: UMLS:C3854181 is_a: HP:0010816 ! Epidermal nevus created_by: peter creation_date: 2010-07-10T12:07:03Z [Term] id: HP:0010816 name: Epidermal nevus def: "Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood." [HPO:probinson, PMID:20542174] comment: Epidermal nevus arises from a defect in the ectoderm and in general are due to an overgrowth of keratinocytes. Subclasses of epidermal nevus include Linear epidermal naevus, epidermolytic epidermal naevus, acantholytic epidermal naevus, linear porokeratosis, and systematised epidermal naevus. Several other conditions are also characterised by benign overgrowth of the epidermis and its appendages (organoid naevi), including inflammatory linear verrucous epidermal naevus, sebaceous naevus, sweat gland naevi, comedone naevus, and Becker naevus. synonym: "Epidermal nevi" RELATED [] xref: MSH:C580062 xref: SNOMEDCT_US:239107007 xref: SNOMEDCT_US:25201003 xref: UMLS:C0334082 is_a: HP:0003764 ! Nevus created_by: peter creation_date: 2010-07-10T12:12:32Z [Term] id: HP:0010817 name: Linear nevus sebaceous def: "A type of nevus sebaceous with a linear form, raised borders and yellowish color." [HPO:probinson] xref: MSH:D054000 xref: SNOMEDCT_US:239112008 xref: SNOMEDCT_US:52298009 xref: SNOMEDCT_US:707136009 xref: UMLS:C3854181 is_a: HP:0010815 ! Nevus sebaceous created_by: peter creation_date: 2010-07-10T12:17:17Z [Term] id: HP:0010818 name: Generalized tonic seizures alt_id: HP:0002184 def: "Generalized seizures with sustained increase in muscle contraction lasting a few seconds to minutes." [HPO:jalbers, HPO:probinson] comment: Characterized by a sudden increase in muscle tone whereby the body, arms, or legs make sudden stiffening movements and consciousness is usually preserved. Tonic seizures can occur during sleep. Tonic seizures usually affect both sides of the body, and cause a fall if the affected person was standing when the seizure started. synonym: "Hypertonic seizures" RELATED [] xref: UMLS:C1836508 is_a: HP:0002197 ! Generalized-onset seizure created_by: peter creation_date: 2010-07-10T03:03:51Z [Term] id: HP:0010819 name: Atonic seizures alt_id: HP:0002124 def: "Seizures characterized by a sudden loss or diminution of muscle tone, which may be fragmentary, confined to a segment (limb, jaw, head), or massive, leading to a slumping to the ground ." [HPO:jalbers, HPO:probinson] synonym: "astatic seizures" EXACT [] synonym: "drop attacks" EXACT [] synonym: "drop seizures" EXACT [] synonym: "Hypotonic seizures" RELATED [] synonym: "Sudden loss of muscle tone" RELATED layperson [] xref: SNOMEDCT_US:189198006 xref: SNOMEDCT_US:42365007 xref: UMLS:C0270846 xref: UMLS:C1836509 is_a: HP:0002197 ! Generalized-onset seizure created_by: peter creation_date: 2010-07-10T03:13:06Z [Term] id: HP:0010820 name: Dacrystic seizures def: "A type of seizure characterized by crying or an outburst of crying as a major feature." [HPO:probinson, pmid:993803] comment: The word dacrystic is derived from the Greek word dakryon (tear). xref: UMLS:C4023693 is_a: HP:0025613 ! Focal emotional seizure created_by: peter creation_date: 2010-07-10T03:23:32Z [Term] id: HP:0010821 name: Gelastic seizures def: "A type of seizure characterized by laughing or an outburst of laughing as a major feature." [HPO:probinson] comment: Laughter is usually lasts briefly, about 30s. Laughing can also be a component of several other kinds of seizures such as partial seizures with motor symptoms, myoclonic seizures, axial tonic seizures, flexor spasms, generalized convulsive seizures, and petit mal absences. xref: MSH:D004828 xref: SNOMEDCT_US:89525009 xref: UMLS:C0270820 is_a: HP:0011153 ! Focal motor seizure created_by: peter creation_date: 2010-07-10T03:27:12Z [Term] id: HP:0010822 name: Scintillating scotoma def: "A scintillating scotoma is a common visual aura that can preced a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights." [HPO:probinson] xref: MSH:D012607 xref: SNOMEDCT_US:2228002 xref: UMLS:C0235068 is_a: HP:0000575 ! Scotoma created_by: peter creation_date: 2010-07-10T03:35:29Z [Term] id: HP:0010823 name: Ridged cranial sutures def: "An overlap of the bony plates of the skull in an infant, with or without early closure." [HPO:probinson] subset: hposlim_core synonym: "Cranial suture ridges" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023692 is_a: HP:0011329 ! Abnormality of cranial sutures created_by: peter creation_date: 2010-07-10T03:46:25Z [Term] id: HP:0010824 name: Abnormal fifth cranial nerve morphology def: "Any structural abormality of the fifth cranial nerve." [HPO:probinson] synonym: "Abnormal trigeminal nerve morphology" EXACT [] synonym: "Abnormality of the fifth cranial nerve" EXACT [] synonym: "Abnormality of the nervus trigeminus" EXACT [] xref: UMLS:C4021226 is_a: HP:0001291 ! Abnormal cranial nerve morphology created_by: peter creation_date: 2010-07-10T03:51:21Z [Term] id: HP:0010825 name: Abnormality of the eleventh cranial nerve def: "Abnormality of the eleventh cranial nerve." [HPO:probinson] synonym: "Abnormality of cranial nerve XI" EXACT [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the accessory nerve" EXACT [] xref: UMLS:C4021225 is_a: HP:0001291 ! Abnormal cranial nerve morphology created_by: peter creation_date: 2010-07-10T03:54:53Z [Term] id: HP:0010826 name: Abnormality of the twelfth cranial nerve def: "Abnormality of the twelfth cranial nerve." [HPO:probinson] synonym: "Abnormality of cranial nerve 12" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of cranial nerve xii" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the hypoglossal nerve" EXACT [] xref: UMLS:C4021224 is_a: HP:3000075 ! Abnormal lingual nerve morphology created_by: peter creation_date: 2010-07-10T03:58:00Z [Term] id: HP:0010827 name: Abnormality of the seventh cranial nerve def: "Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve." [HPO:probinson] synonym: "Abnormality of the facial nerve" EXACT [] xref: UMLS:C4021223 is_a: HP:0001291 ! Abnormal cranial nerve morphology created_by: peter creation_date: 2010-07-10T04:04:55Z [Term] id: HP:0010828 name: Hemifacial spasm def: "Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions." [HPO:probinson, PMID:12145388] comment: Hemifacial spasm presents in the fifth or sixth decade of life, and is almost always unilateral. An attack usually begins with brief clonic movements of the orbicularis oculi and spreads over years to other facial muscles. Hemifacial spasm is often the result of chronic irritation of the facial nerve or nucleus. synonym: "Hemifacial spasms" RELATED [HPO:skoehler] synonym: "Spasms on one side of the face" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D019569 xref: SNOMEDCT_US:13753008 xref: UMLS:C0278152 is_a: HP:0003739 ! Myoclonic spasms created_by: peter creation_date: 2010-07-10T04:15:33Z [Term] id: HP:0010829 name: Impaired temperature sensation alt_id: HP:0100772 def: "A reduced ability to discriminate between different temperatures." [HPO:probinson] comment: Temperature sensation can be tested by touching the skin several seconds with a water flask filled to the desired temperature. Persons with normal temperature sensation should at least be able to identify as warm a flask that is 35-36 degrees C and identify as cool a flask at 28-32 degrees C. synonym: "Abnormality of temperature sensation" EXACT layperson [] synonym: "Impaired temperature sensation" EXACT layperson [] synonym: "Loss of temperature sensation" EXACT layperson [] xref: UMLS:C4021222 is_a: HP:0003474 ! Sensory impairment created_by: peter creation_date: 2010-07-10T07:08:10Z [Term] id: HP:0010830 name: Impaired tactile sensation def: "A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus." [HPO:probinson] synonym: "Impaired touch sensation" EXACT layperson [] synonym: "Loss of tactile sensation" EXACT [] xref: UMLS:C4021221 is_a: HP:0003474 ! Sensory impairment created_by: peter creation_date: 2010-07-10T07:09:54Z [Term] id: HP:0010831 name: Impaired proprioception alt_id: HP:0010870 def: "A loss or impairment of the sensation of the relative position of parts of the body and joint position." [HPO:probinson] synonym: "Abnormality of proprioception" EXACT [] xref: UMLS:C1856691 is_a: HP:0003474 ! Sensory impairment created_by: peter creation_date: 2010-07-10T07:12:53Z [Term] id: HP:0010832 name: Abnormality of pain sensation def: "Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain." [HPO:probinson] xref: UMLS:C4023691 is_a: HP:0003474 ! Sensory impairment created_by: peter creation_date: 2010-07-10T07:15:58Z [Term] id: HP:0010833 name: Spontaneous pain sensation def: "Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger." [HPO:probinson] xref: UMLS:C4023690 is_a: HP:0010832 ! Abnormality of pain sensation created_by: peter creation_date: 2010-07-10T07:19:19Z [Term] id: HP:0010834 name: Trophic changes related to pain def: "Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails." [HPO:probinson] synonym: "Trophic changes" EXACT [] xref: UMLS:C4021220 is_a: HP:0010832 ! Abnormality of pain sensation created_by: peter creation_date: 2010-07-10T07:23:26Z [Term] id: HP:0010835 name: Dissociated sensory loss def: "A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa." [HPO:probinson] comment: Dissociated sensory loss indicates a focal lesion within the spinal cord or brainstem. xref: SNOMEDCT_US:87275002 xref: UMLS:C0278136 is_a: HP:0003474 ! Sensory impairment created_by: peter creation_date: 2010-07-10T07:28:04Z [Term] id: HP:0010836 name: Abnormal circulating copper concentration def: "An abnormal concentration of copper." [HPO:probinson] comment: An abnormality in the concentration of copper, which normally occurs as a cofactor for a number of proteins including amine oxidases and chaperone proteins. synonym: "Abnormal copper levels" RELATED layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4020766 xref: UMLS:C4023689 is_a: HP:0011030 ! Abnormal blood transition element cation concentration created_by: peter creation_date: 2010-07-10T07:39:09Z [Term] id: HP:0010837 name: Decreased serum ceruloplasmin def: "Decreased concentration of ceruloplasmin in the blood." [HPO:probinson] comment: Ceruloplasmin is the major copper-carrying protein in the serum. Decreased serum ceruloplasmin levels can indicate other defects in copper metabolism. synonym: "Decreased serum ceruloplasmin" EXACT layperson [] synonym: "Hypoceruloplasminaemia" EXACT HP:0045076 [] synonym: "Hypoceruloplasminemia" EXACT [] xref: UMLS:C0240997 is_a: HP:0010876 ! Abnormal circulating protein level created_by: peter creation_date: 2010-07-10T07:39:36Z [Term] id: HP:0010838 name: High nonceruloplasmin-bound serum copper def: "An increased concentration of non ceruloplasmin bound copper in the blood." [HPO:probinson] xref: UMLS:C1848459 is_a: HP:0010836 ! Abnormal circulating copper concentration created_by: peter creation_date: 2010-07-10T07:43:39Z [Term] id: HP:0010839 name: Increased urinary copper concentration def: "An increased concentration of copper in the urine." [HPO:probinson] synonym: "Increased urinary copper concentration" EXACT layperson [] xref: UMLS:C4023688 is_a: HP:0045036 ! Abnormal urinary copper concentration created_by: peter creation_date: 2010-07-10T07:44:50Z [Term] id: HP:0010841 name: Multifocal epileptiform discharges def: "An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci)." [HPO:probinson] synonym: "Multifocal EEG abnormality" EXACT [] xref: UMLS:C4021219 is_a: HP:0011185 ! EEG with focal epileptiform discharges created_by: peter creation_date: 2010-07-10T08:01:28Z [Term] id: HP:0010843 name: EEG with focal slow activity def: "Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy)." [HPO:probinson] synonym: "EEG: focal slow activity" EXACT [] synonym: "EEG: localised slow activity" EXACT [] synonym: "EEG: localized slow activity" EXACT [] xref: UMLS:C4021218 is_a: HP:0011203 ! EEG with abnormally slow frequencies created_by: peter creation_date: 2010-07-10T08:10:59Z [Term] id: HP:0010844 name: EEG with multifocal slow activity def: "Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO:jalbers] xref: UMLS:C4023687 is_a: HP:0011203 ! EEG with abnormally slow frequencies created_by: peter creation_date: 2010-07-10T08:13:54Z [Term] id: HP:0010845 name: EEG with generalized slow activity def: "Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO:probinson] comment: Generalized slow activity in the EEG typically signifies serious dysfunction of the entire brain. synonym: "EEG: generalised slow activity" EXACT [] synonym: "EEG: generalized slow activity" EXACT [] xref: UMLS:C4021217 is_a: HP:0011203 ! EEG with abnormally slow frequencies created_by: peter creation_date: 2010-07-10T08:15:05Z [Term] id: HP:0010846 name: EEG with persistent abnormal rhythmic activity synonym: "EEG: persistent abnormal rhythmic activity" EXACT [] xref: UMLS:C4021216 is_a: HP:0011176 ! EEG with constitutional variants created_by: peter creation_date: 2010-07-10T08:18:01Z [Term] id: HP:0010847 name: EEG with spike-wave complexes (<2.5 Hz) def: "The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG)." [HPO:probinson] comment: Spikes (<70 ms) and sharp waves (70-200 ms) are sharp transient waves that have a strong association with epilepsy. No difference is noted in terms of clinical significance of spikes and sharp waves. Significant spikes usually are followed by a slow wave. xref: UMLS:C4023686 is_a: HP:0010850 ! EEG with spike-wave complexes created_by: peter creation_date: 2010-07-10T08:18:25Z [Term] id: HP:0010848 name: EEG with spike-wave complexes (2.5-3.5 Hz) def: "The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG)." [HPO:probinson] xref: UMLS:C4023685 is_a: HP:0010850 ! EEG with spike-wave complexes created_by: peter creation_date: 2010-07-10T08:21:13Z [Term] id: HP:0010849 name: EEG with spike-wave complexes (>3.5 Hz) alt_id: HP:0007261 def: "The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG)." [HPO:probinson] synonym: "EEG with 3-4-Hz spike waves" RELATED [] xref: UMLS:C4020765 xref: UMLS:C4023684 is_a: HP:0010850 ! EEG with spike-wave complexes created_by: peter creation_date: 2010-07-10T08:22:40Z [Term] id: HP:0010850 name: EEG with spike-wave complexes def: "Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO:probinson] xref: UMLS:C4023683 is_a: HP:0011198 ! EEG with generalized epileptiform discharges created_by: peter creation_date: 2010-07-10T08:23:28Z [Term] id: HP:0010851 name: EEG with burst suppression def: "The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes." [HPO:probinson, PMID:22323592] comment: Burst suppression can occur in a generalized or lateralized distribution and is often a sign of severe encephalopathy. Generally, an interburst interval of 30 seconds or less is associated with a better prognosis than longer interburst intervals (>30 sec). Burst suppression is an electroencephalogram (EEG) pattern in which high voltage activity (burst) and flatline (suppression) periods alternate systematically but quasiperiodically (almost periodic but with variations in inter- and intra-burst duration) is a state of profound brain inactivation. xref: UMLS:C1969156 is_a: HP:0011198 ! EEG with generalized epileptiform discharges created_by: peter creation_date: 2010-07-11T08:02:41Z [Term] id: HP:0010852 name: EEG with photoparoxysmal response alt_id: HP:0001330 def: "EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns." [HPO:probinson] comment: In some patients, seizures can be provoked by specific external factors (reflex epilepsy), including flickering lights and patterns. These patients commonly show epileptiform discharges in the EEG when stimulated with flashing lights, black and white striped patterns and television. These evoked EEG abnormalities are called photoparoxysmal responses. synonym: "Photoparoxysmal response on EEG" EXACT [] xref: UMLS:C3552821 is_a: HP:0002353 ! EEG abnormality created_by: peter creation_date: 2010-07-11T08:10:17Z [Term] id: HP:0010853 name: EEG with periodic lateralized epileptiform discharges def: "Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds)." [HPO:probinson] comment: The epileptiform morphology of the discharges is not invariable, as PLEDS are often closer to slow waves than to sharp waves in morphology. PLEDs are often are caused by acute destructive focal lesions. PLEDs are often a transitory phenomenon, disappearing in a matter of weeks, even if the causal lesion persists, and often transforming into a less specific but more persistent focal slow appearance. synonym: "EEG: periodic lateralized epileptiform discharges" EXACT [] xref: UMLS:C4021215 is_a: HP:0011186 ! Focal epileptiform discharges with limited propagation to contralateral hemisphere created_by: peter creation_date: 2010-07-11T08:25:02Z [Term] id: HP:0010854 name: EEG with generalized low amplitude activity def: "An abnormal generalized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO:probinson] synonym: "EEG: generalised low amplitude activity" EXACT [] xref: UMLS:C4021214 is_a: HP:0011201 ! EEG with changes in voltage created_by: peter creation_date: 2010-07-11T08:34:13Z [Term] id: HP:0010855 name: EEG with localized low amplitude activity def: "An abnormal localized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO:probinson] synonym: "EEG: localised low amplitude activity" EXACT [] xref: UMLS:C4021213 is_a: HP:0011201 ! EEG with changes in voltage created_by: peter creation_date: 2010-07-11T08:36:03Z [Term] id: HP:0010856 name: EEG with periodic complexes def: "Periodically occurring generalized periodic complexes." [HPO:jalbers] synonym: "EEG: periodic complexes" EXACT [] synonym: "Radermecker complexes" EXACT [] xref: UMLS:C4021212 is_a: HP:0010857 ! EEG with periodic abnormalities created_by: peter creation_date: 2010-07-11T08:38:52Z [Term] id: HP:0010857 name: EEG with periodic abnormalities def: "Periodically recurring abnormalities in the EEG." [HPO:probinson] synonym: "EEG: periodic abnormalities" EXACT [] xref: UMLS:C4021211 is_a: HP:0011200 ! EEG with generalized polymorphic epileptiform discharges created_by: peter creation_date: 2010-07-11T08:39:39Z [Term] id: HP:0010858 name: EEG with hyperventilation-induced epileptiform discharges def: "Epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO:probinson] comment: Hyperventilation (overbreathing) is widely used as a diagnostic procedure to activate epileptiform EEG discharges. xref: UMLS:C4023682 is_a: HP:0011182 ! Interictal epileptiform activity created_by: peter creation_date: 2010-07-11T08:44:38Z [Term] id: HP:0010859 name: Frank breech presentation def: "A kind of breech presentation in which the hips are flexed and the knees are extended." [HPO:curators] xref: MSH:D001946 xref: SNOMEDCT_US:18559007 xref: UMLS:C0233286 is_a: HP:0001623 ! Breech presentation created_by: peter creation_date: 2010-08-03T12:33:15Z [Term] id: HP:0010860 name: Complete breech presentation def: "A kind of breech presentation in which the hips are flexed and the knees are flexed." [HPO:probinson] xref: MSH:D001946 xref: SNOMEDCT_US:49168004 xref: UMLS:C0233283 is_a: HP:0001623 ! Breech presentation created_by: peter creation_date: 2010-08-03T12:34:30Z [Term] id: HP:0010861 name: Incomplete breech presentation def: "A kind of breech presentation in which one or both hips are extended and one or both of the fetus' feet are pointing down and entering the birth canal." [HPO:probinson] xref: MSH:D001946 xref: SNOMEDCT_US:38049006 xref: UMLS:C0426146 is_a: HP:0001623 ! Breech presentation created_by: peter creation_date: 2010-08-03T12:34:57Z [Term] id: HP:0010862 name: Delayed fine motor development def: "A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands." [HPO:probinson] xref: UMLS:C4023681 is_a: HP:0001270 ! Motor delay created_by: peter creation_date: 2010-08-03T05:44:08Z [Term] id: HP:0010863 name: Receptive language delay def: "A delay in the acquisition of the ability to understand the speech of others." [HPO:probinson] xref: SNOMEDCT_US:229736005 xref: UMLS:C0454642 is_a: HP:0000750 ! Delayed speech and language development created_by: peter creation_date: 2010-08-03T06:02:52Z [Term] id: HP:0010864 name: Intellectual disability, severe alt_id: HP:0007196 def: "Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [HPO:probinson] comment: Persons with severe mental retardation can be taught basic life skills and simple tasks with supervision. synonym: "Early and severe mental retardation" EXACT layperson [] synonym: "Intellectual disability, severe" EXACT layperson [] synonym: "Mental retardation, severe" EXACT layperson [] synonym: "Severe mental retardation" EXACT layperson [] xref: SNOMEDCT_US:40700009 xref: UMLS:C0036857 is_a: HP:0001249 ! Intellectual disability created_by: peter creation_date: 2010-08-03T06:29:35Z [Term] id: HP:0010865 name: Oppositional defiant disorder def: "An enduring pattern of uncooperative, defiant, and hostile behavior toward authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents." [DSM:313.81, HPO:probinson] comment: Oppositional defiant disorder is basically a persistent pattern of tantrums, arguing, and angry or disruptive behavior that goes beyond what can be considered normal. xref: MSH:D019958 xref: SNOMEDCT_US:18941000 xref: UMLS:C0029121 is_a: HP:0000708 ! Behavioral abnormality created_by: peter creation_date: 2010-08-03T07:09:09Z [Term] id: HP:0010866 name: Abdominal wall defect def: "An incomplete closure of the abdominal wall." [HPO:probinson] synonym: "Abdominal wall defect" EXACT layperson [] synonym: "Congenital anterior abdominal wall defect" EXACT [] xref: UMLS:C0238577 is_a: HP:0004298 ! Abnormality of the abdominal wall created_by: peter creation_date: 2010-08-03T09:55:15Z [Term] id: HP:0010867 name: Dyssynergia def: "A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts." [HPO:probinson] xref: MSH:D001259 xref: SNOMEDCT_US:20262006 xref: SNOMEDCT_US:39384006 xref: UMLS:C0004134 is_a: HP:0001251 ! Ataxia created_by: peter creation_date: 2010-08-18T01:17:10Z [Term] id: HP:0010868 name: Ocular dyssynergia def: "A type of dyssynergia affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field." [HPO:probinson] xref: UMLS:C4023680 is_a: HP:0010867 ! Dyssynergia created_by: peter creation_date: 2010-08-18T01:20:05Z [Term] id: HP:0010869 name: Asynergia def: "A type of dyssynergy characterized by the lack of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed." [HPO:probinson] xref: SNOMEDCT_US:77743009 xref: UMLS:C0234355 is_a: HP:0010867 ! Dyssynergia created_by: peter creation_date: 2010-08-18T01:39:38Z [Term] id: HP:0010871 name: Sensory ataxia def: "Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms." [HPO:probinson] comment: Afferent (seonsory) ataxia is caused by lackof proprioceptive feedback during gait and stance. It can be caused by lesions to the peripheral nerves, the dorsal root ganglia, or the spinal cord. It can be distinguished from cerebellar ataxia by (1) heavy dependence of the affected individual on visual guidance; (2) a minor degree of oculomotor deficits; and (3) the absence of dysarthria. Afferent ataxia may be associated with impaired tendon reflexes and sensory deficits. synonym: "Afferent ataxia" EXACT [] synonym: "Ataxia, sensory" EXACT [HPO:skoehler] synonym: "Spinal ataxia" EXACT [] xref: MSH:D001259 xref: SNOMEDCT_US:445458007 xref: SNOMEDCT_US:69131009 xref: UMLS:C0037921 xref: UMLS:C0240991 is_a: HP:0010831 ! Impaired proprioception created_by: peter creation_date: 2010-08-18T01:57:54Z [Term] id: HP:0010872 name: T-wave inversion def: "An inversion of the T-wave (which is normally positive)." [HPO:probinson] synonym: "EKG: T-wave inversion" EXACT [] xref: SNOMEDCT_US:59931005 xref: UMLS:C0520888 is_a: HP:0005135 ! Abnormal T-wave created_by: peter creation_date: 2010-08-25T03:29:13Z [Term] id: HP:0010873 name: Cervical spinal cord atrophy def: "Atrophy of the cervical segment of the spinal cord." [HPO:probinson] xref: UMLS:C0742191 is_a: HP:0006827 ! Atrophy of the spinal cord created_by: peter creation_date: 2010-08-25T03:41:38Z [Term] id: HP:0010874 name: Tendon xanthomatosis def: "The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows)." [HPO:probinson] synonym: "Tendon xanthomas" EXACT [] xref: SNOMEDCT_US:69880002 xref: UMLS:C0221253 is_a: HP:0000991 ! Xanthomatosis is_a: HP:0100261 ! Abnormal tendon morphology created_by: peter creation_date: 2010-08-30T11:01:16Z [Term] id: HP:0010875 name: Chaddock reflex def: "A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract." [HPO:probinson] xref: SNOMEDCT_US:413813004 xref: UMLS:C1531651 is_a: HP:0007256 ! Abnormal pyramidal sign created_by: peter creation_date: 2010-09-07T12:11:07Z [Term] id: HP:0010876 name: Abnormal circulating protein level def: "An abnormal level of a circulating protein in the blood." [HPO:probinson] synonym: "Abnormality of circulating protein level" EXACT [] synonym: "Blood protein disease" RELATED layperson [] synonym: "Serum protein abnormality" RELATED [] xref: UMLS:C4020763 xref: UMLS:C4020764 xref: UMLS:C4023679 is_a: HP:0032180 ! Abnormal circulating metabolite concentration created_by: peter creation_date: 2010-09-07T01:51:12Z [Term] id: HP:0010877 name: Monocular strabismus def: "A type of strabismus in which the fixating eye is always the same one, while the other eye is constantly deviated. Monocular strabismus is to be distinguished from alternating strabismus, in which either of the eyes 'squints' at different times." [HPO:probinson] synonym: "Unilateral strabismus" EXACT [] xref: UMLS:C4023678 is_a: HP:0000486 ! Strabismus created_by: peter creation_date: 2010-09-08T10:47:57Z [Term] id: HP:0010878 name: Fetal cystic hygroma def: "The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm." [emedicine:402757, HPO:probinson] comment: Upon ultrasound examination, fetal cystic hygroma presents as a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts related to the posterior aspect of the neck. Cystic hygromas can range from increased nuchal translucency to thin-walled cystic masses that may become larger than the fetal head. The cysts may result from a lymphatic abnormality, possibly one caused by absent or inefficient connections between the lymphatic and venous systems. Depending on the site, the cut off may vary from site to site. Lowest would be 2.5 mm and highest 3.5 mm. xref: MSH:C537852 xref: UMLS:C0948242 is_a: HP:0000476 ! Cystic hygroma is_a: HP:0010880 ! Increased nuchal translucency created_by: peter creation_date: 2010-09-13T08:02:26Z [Term] id: HP:0010879 name: Postnatal cystic hygroma xref: UMLS:C4023677 is_a: HP:0000476 ! Cystic hygroma created_by: peter creation_date: 2010-09-13T08:08:47Z [Term] id: HP:0010880 name: Increased nuchal translucency def: "The presence of an abnormally large hypoechoic space in the posterior fetal neck (usually detected on prenatal ultrasound examination)." [HPO:probinson, pmid:12751779] comment: Increased nuchal translucency may be related to a cystic hygroma or to mesenchymal edema. Increased nuchal translucency can be classified into three categories: 1) cardiac abnormalities, combined with abnormal ductus venosus flow velocities, is found, leading to the theory that cardiac failure causes nuchal translucency enlargement; 2) various types of abnormalities are found in the extracellular matrix of the nuchal skin of fetuses with increased nuchal translucency; 3) abnormal lymphatic development is demonstrated in fetuses with increased nuchal translucency. xref: UMLS:C4023676 is_a: HP:0000969 ! Edema is_a: HP:0001197 ! Abnormality of prenatal development or birth created_by: peter creation_date: 2010-09-13T08:15:19Z [Term] id: HP:0010881 name: Abnormality of the umbilical cord def: "An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta." [HPO:probinson] synonym: "Umbilical cord issue" EXACT layperson [] xref: SNOMEDCT_US:90009001 xref: UMLS:C0266785 is_a: HP:0001194 ! Abnormalities of placenta or umbilical cord created_by: peter creation_date: 2010-09-13T08:24:04Z [Term] id: HP:0010882 name: Pulmonary valve atresia def: "A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop." [HPO:probinson] xref: Fyler:1001 xref: MSH:D018633 xref: SNOMEDCT_US:204342004 xref: SNOMEDCT_US:448564004 xref: UMLS:C0242855 is_a: HP:0001641 ! Abnormal pulmonary valve morphology created_by: peter creation_date: 2010-09-20T11:08:09Z [Term] id: HP:0010883 name: Aortic valve atresia def: "A congenital disorder of the aortic valve in which the orifice of the valve fails to develop." [HPO:probinson] synonym: "Aortic atresia" EXACT [] xref: SNOMEDCT_US:51442005 xref: UMLS:C0265843 is_a: HP:0001646 ! Abnormal aortic valve morphology created_by: peter creation_date: 2010-09-20T11:09:46Z [Term] id: HP:0010884 name: Acromelia def: "Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs." [HPO:probinson] subset: hposlim_core xref: UMLS:C4023675 is_a: HP:0009815 ! Aplasia/hypoplasia of the extremities created_by: peter creation_date: 2010-09-20T11:17:40Z [Term] id: HP:0010885 name: Avascular necrosis def: "A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply." [HPO:sdoelken] comment: The interruption of the blood supply may have many different causes such as rapid growth, heredity causes, trauma or overuse, anatomic conformation, dietary imbalances or secondary effects of other diseases. synonym: "Aseptic bone necrosis" EXACT [] synonym: "Aseptic necrosis" EXACT [] synonym: "Bone infarction" EXACT [] synonym: "Death of bone due to decreased blood supply" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Ischemic bone necrosis" EXACT [] synonym: "Osteochondronecrosis" EXACT [] synonym: "Osteonecrosis" EXACT [] xref: MSH:D010020 xref: SNOMEDCT_US:240196003 xref: SNOMEDCT_US:398199007 xref: SNOMEDCT_US:72756009 xref: UMLS:C0029445 xref: UMLS:C0085660 xref: UMLS:C0520474 xref: UMLS:C0877326 is_a: HP:0011843 ! Abnormality of skeletal physiology created_by: sdoelken creation_date: 2010-09-24T10:11:05Z [Term] id: HP:0010886 name: Osteochondritis Dissecans def: "A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage." [HPO:sdoelken] comment: Joints that are most often affected by Osteochondrosis dissecans are elbow and hip, but also wrist and ankel joints. synonym: "Osteochondrosis dissecans" EXACT [] xref: MSH:D010008 xref: SNOMEDCT_US:82562007 xref: UMLS:C0029421 is_a: HP:0040188 ! Osteochondrosis created_by: sdoelken creation_date: 2010-09-24T10:15:07Z [Term] id: HP:0010888 name: Morbus Koehler def: "Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis." [HPO:sdoelken] xref: UMLS:C4023674 is_a: HP:0100323 ! Juvenile aseptic necrosis is_a: HP:0100339 ! Abnormality of the os naviculare pedis created_by: sdoelken creation_date: 2010-09-25T11:04:19Z [Term] id: HP:0010889 name: Morbus Kienboeck def: "Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum." [HPO:sdoelken] comment: Results most often from a stress-fracture and consecutive devascularisation of the Os lunatum. synonym: "Kienboeck's disease" EXACT [] synonym: "Kienböck's disease" EXACT [] synonym: "Lunatomalacia" EXACT [] xref: MSH:D010020 xref: SNOMEDCT_US:360466009 xref: SNOMEDCT_US:367356000 xref: SNOMEDCT_US:84062004 xref: UMLS:C0022682 is_a: HP:0004248 ! Abnormality of the lunate bone is_a: HP:0100323 ! Juvenile aseptic necrosis created_by: sdoelken creation_date: 2010-09-25T11:04:19Z [Term] id: HP:0010890 name: Morbus Osgood-Schlatter def: "Morbus Osgood-Schlatter is a Juvenile aseptic necrosis affecting the Tuberositas tibiae." [HPO:sdoelken] comment: Painfull irritation and localized bony necrosis affecting the Tuberositas tibiae, where tha patellar tendon inserts. synonym: "Osgood Schlatter disease" EXACT [] xref: MSH:D055034 xref: SNOMEDCT_US:72047008 xref: SNOMEDCT_US:79353000 xref: UMLS:C0029376 is_a: HP:0002992 ! Abnormality of tibia morphology is_a: HP:0100323 ! Juvenile aseptic necrosis created_by: sdoelken creation_date: 2010-09-25T11:04:19Z [Term] id: HP:0010891 name: Morbus Scheuermann def: "A developmental growth retardation of the vertebral end plates that may lead to secondary destruction of the vertebral end plates and protrusion of the nucleus pulposus into the vertebral body (so called Schmorl's nodes as seen on x-rays)." [HPO:sdoelken] comment: Scheuermann's disease usually manifests during the 2nd decade and leads to the appearance of the so called adolescence kyphosis. Late manifestations may be wedge-shaped vertebrae, platyspondyly and arthrosis affecting the verterbal collum. synonym: "Calve disease" EXACT [] synonym: "Juvenile Osteochondrosis of the spine" EXACT [] synonym: "Scheuermann disease" EXACT [] synonym: "Scheuermann kyphosis" EXACT [] synonym: "Sherman's Disease" EXACT [] xref: MSH:D012544 xref: SNOMEDCT_US:53406005 xref: UMLS:C0036310 is_a: HP:0003468 ! Abnormal vertebral morphology is_a: HP:0100323 ! Juvenile aseptic necrosis created_by: sdoelken creation_date: 2010-09-25T11:04:19Z [Term] id: HP:0010892 name: Abnormal circulating branched chain amino acid concentration def: "Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation." [HPO:probinson] xref: UMLS:C4023673 is_a: HP:0003112 ! Abnormality of serum amino acid level created_by: peter creation_date: 2010-11-11T02:53:04Z [Term] id: HP:0010893 name: Abnormal circulating phenylalanine concentration def: "Any deviation from the normal concentration of phenylalanine in the blood circulation." [HPO:probinson] synonym: "Abnormality of phenylalanine metabolism" EXACT [] xref: UMLS:C4023672 is_a: HP:0004338 ! Abnormal circulating aromatic amino acid concentration created_by: peter creation_date: 2010-11-11T03:23:30Z [Term] id: HP:0010894 name: Abnormal circulating serine family amino acid concentration def: "Any deviation from the normal concentration of a serine family amino acid in the blood circulation." [HPO:probinson] synonym: "Abnormality of serine family amino acid metabolism" EXACT [] xref: UMLS:C4023671 is_a: HP:0003112 ! Abnormality of serum amino acid level created_by: peter creation_date: 2010-11-30T05:21:41Z [Term] id: HP:0010895 name: Abnormal circulating glycine concentration def: "Any deviation from the normal concentration of glycine in the blood circulation." [HPO:gcarletti] xref: UMLS:C4023670 is_a: HP:0010894 ! Abnormal circulating serine family amino acid concentration created_by: peter creation_date: 2010-11-30T05:27:24Z [Term] id: HP:0010896 name: Hypersarcosinemia def: "An elevated plasma concentration of sarcosine." [HPO:gcarletti] comment: Sarcosine is the N-methyl derivative of glycine. synonym: "High plasma sarcosine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:C537236 xref: SNOMEDCT_US:64852002 xref: UMLS:C0268563 is_a: HP:0010898 ! Abnormal circulating sarcosine concentration created_by: peter creation_date: 2010-11-30T05:38:24Z [Term] id: HP:0010897 name: Hypersarcosinuria def: "An elevated urinary concentration of sarcosine." [HPO:gcarletti] synonym: "High urine sarcosine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023669 is_a: HP:0010898 ! Abnormal circulating sarcosine concentration created_by: peter creation_date: 2010-11-30T05:43:45Z [Term] id: HP:0010898 name: Abnormal circulating sarcosine concentration def: "An deviation from the normal concentration of sarcosine in the blood circulation." [HPO:probinson] comment: Sarcosine, which is also known as N-methylglycine, is an intermediate and byproduct in glycine synthesis and degradation. xref: UMLS:C4023668 is_a: HP:0010894 ! Abnormal circulating serine family amino acid concentration created_by: peter creation_date: 2010-11-30T05:44:10Z [Term] id: HP:0010899 name: Abnormal circulating aspartate family amino acid concentration def: "Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation." [HPO:probinson] xref: UMLS:C4023667 is_a: HP:0003112 ! Abnormality of serum amino acid level created_by: peter creation_date: 2010-12-02T04:40:57Z [Term] id: HP:0010900 name: Abnormal circulating threonine concentration def: "Any deviation from the normal concentration of threonine in the blood circulation." [HPO:probinson] synonym: "Abnormality of threonine metabolism" EXACT [] xref: UMLS:C4023666 is_a: HP:0010899 ! Abnormal circulating aspartate family amino acid concentration created_by: peter creation_date: 2010-12-02T04:42:19Z [Term] id: HP:0010901 name: Abnormal circulating methionine concentration def: "Any deviation from the normal concentration of methionine in the blood circulation." [HPO:probinson] synonym: "Abnormality of methionine metabolism" EXACT [] xref: UMLS:C4023665 is_a: HP:0004339 ! Abnormal circulating sulfur amino acid concentration is_a: HP:0010899 ! Abnormal circulating aspartate family amino acid concentration created_by: peter creation_date: 2010-12-02T05:15:22Z [Term] id: HP:0010902 name: Abnormal circulating glutamine family amino acid concentration def: "Any deviation from the normal concentration of a glutamine family amino acid in the blood circulation." [HPO:probinson] xref: UMLS:C4023664 is_a: HP:0003112 ! Abnormality of serum amino acid level created_by: peter creation_date: 2010-12-03T04:30:22Z [Term] id: HP:0010903 name: Abnormal circulating glutamine concentration def: "Any deviation from the normal concentration of glutamine in the blood circulation." [HPO:probinson] comment: Glutamine is a charge-neutral, polar amino acid. xref: UMLS:C4023663 is_a: HP:0010902 ! Abnormal circulating glutamine family amino acid concentration created_by: peter creation_date: 2010-12-03T04:31:22Z [Term] id: HP:0010904 name: Abnormal circulating histidine concentration def: "An abnormality of a histidine metabolic process." [HPO:probinson] synonym: "Abnormality of histidine metabolism" EXACT [] xref: UMLS:C4023662 is_a: HP:0003112 ! Abnormality of serum amino acid level created_by: peter creation_date: 2010-12-08T07:13:56Z [Term] id: HP:0010905 name: obsolete Abnormality of histidine metabolism is_obsolete: true replaced_by: HP:0010904 [Term] id: HP:0010906 name: Hyperhistidinemia def: "An increased concentration of histidine in the blood." [HPO:gcarletti] comment: Blood histidine levels over 500 micromole per liter. Normal blood histidine levels are around 80-90 micromole per liter. synonym: "High blood histidine level" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Histidinemia" EXACT [] xref: MSH:C538320 xref: SNOMEDCT_US:124628005 xref: SNOMEDCT_US:410058007 xref: UMLS:C0220992 is_a: HP:0010904 ! Abnormal circulating histidine concentration created_by: peter creation_date: 2010-12-08T07:27:47Z [Term] id: HP:0010907 name: Abnormal circulating proline concentration def: "Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation." [HPO:gcarletti] xref: UMLS:C4023661 is_a: HP:0010902 ! Abnormal circulating glutamine family amino acid concentration created_by: peter creation_date: 2010-12-08T07:50:08Z [Term] id: HP:0010908 name: Abnormal circulating lysine concentration def: "Any deviation from the normal concentration of lysine in the blood circulation." [HPO:gcarletti] synonym: "Abnormality of lysine metabolism" EXACT [] xref: UMLS:C4023660 is_a: HP:0010899 ! Abnormal circulating aspartate family amino acid concentration created_by: peter creation_date: 2010-12-08T08:05:55Z [Term] id: HP:0010909 name: Abnormal circulating arginine concentration def: "Any deviation from the normal concentration of arginine in the blood circulation." [HPO:probinson] comment: Arginine is a charged, aliphatic amino acid. synonym: "Abnormality of arginine metabolism" EXACT [] xref: UMLS:C4023659 is_a: HP:0010902 ! Abnormal circulating glutamine family amino acid concentration created_by: peter creation_date: 2010-12-08T08:25:05Z [Term] id: HP:0010910 name: Hypervalinemia def: "An increased concentration of valine in the blood." [HPO:gcarletti] synonym: "High blood valine concentration" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:C536524 xref: SNOMEDCT_US:47719001 xref: UMLS:C0268573 is_a: HP:0010914 ! Abnormal circulating valine concentration created_by: peter creation_date: 2010-12-08T08:44:27Z [Term] id: HP:0010911 name: Hyperleucinemia def: "An increased concentration of leucine in the blood." [HPO:gcarletti] comment: Normal leucine blood levels are around 120-160 micromole per liter. synonym: "High blood leucine concentration" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:24013007 xref: UMLS:C0268576 is_a: HP:0004357 ! Abnormal circulating leucine concentration created_by: peter creation_date: 2010-12-08T08:45:56Z [Term] id: HP:0010912 name: Abnormal circulating isoleucine concentration def: "Any deviation from the normal concentration of isoleucine in the blood circulation." [HPO:probinson] xref: UMLS:C4023658 is_a: HP:0010892 ! Abnormal circulating branched chain amino acid concentration created_by: peter creation_date: 2010-12-08T08:47:47Z [Term] id: HP:0010913 name: Hyperisoleucinemia def: "An increased concentration of isoleucine in the blood." [HPO:gcarletti] comment: Normal isoleucine blood levels are around 60-80 micromole per liter. synonym: "High blood isoleucine concentration" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023657 is_a: HP:0010912 ! Abnormal circulating isoleucine concentration created_by: peter creation_date: 2010-12-08T08:49:42Z [Term] id: HP:0010914 name: Abnormal circulating valine concentration def: "Any deviation from the normal circulation of valine in the blood circulation." [HPO:probinson] synonym: "Abnormality of valine metabolism" EXACT [] xref: UMLS:C4023656 is_a: HP:0010892 ! Abnormal circulating branched chain amino acid concentration created_by: peter creation_date: 2010-12-08T08:51:14Z [Term] id: HP:0010915 name: Abnormal circulating pyruvate family amino acid concentration def: "An abnormality of a pyruvate family amino acid metabolic process." [HPO:probinson] synonym: "Abnormality of pyruvate family amino acid metabolism" EXACT [] xref: UMLS:C4023655 is_a: HP:0003112 ! Abnormality of serum amino acid level created_by: peter creation_date: 2010-12-08T08:55:53Z [Term] id: HP:0010916 name: Abnormal circulating alanine concentration def: "An abnormality of an alanine metabolic process." [HPO:gcarletti] synonym: "Abnormality of alanine metabolism" EXACT [] xref: UMLS:C4023654 is_a: HP:0010915 ! Abnormal circulating pyruvate family amino acid concentration created_by: peter creation_date: 2010-12-08T08:57:53Z [Term] id: HP:0010917 name: Abnormal circulating tyrosine concentration def: "Any deviation from the normal concentration of tyrosine in the blood circulation." [HPO:probinson] xref: UMLS:C4023653 is_a: HP:0004338 ! Abnormal circulating aromatic amino acid concentration created_by: peter creation_date: 2010-12-08T09:13:53Z [Term] id: HP:0010918 name: Abnormal circulating cysteine concentration def: "An abnormality of a cysteine metabolic process." [HPO:probinson] xref: UMLS:C4023652 is_a: HP:0004339 ! Abnormal circulating sulfur amino acid concentration created_by: peter creation_date: 2010-12-11T11:45:39Z [Term] id: HP:0010919 name: Abnormal circulating homocysteine concentration def: "An abnormality of a homocysteine metabolic process." [HPO:probinson] xref: UMLS:C4023651 is_a: HP:0004339 ! Abnormal circulating sulfur amino acid concentration created_by: peter creation_date: 2010-12-11T11:48:52Z [Term] id: HP:0010920 name: Zonular cataract alt_id: HP:0007713 def: "Zonular cataracts are defined to be cataracts that affect specific regions of the lens." [HPO:probinson, HPO:vkumar, pmid:18035564] comment: Zonular cataracts include specific regions of the lens and include nuclear cataracts, which affect the fetal or embryonic lens nucleus and lamellar cataracts. These tend to affect lens fibers that are formed at the same time, resulting in a shell like opacity. Zonular cataracts can also be characterized as dense or pulverulent (dusty appearing), and can be accompanied by arcuate opacities extending into the lens cortex, called cortical riders. xref: MSH:C535342 xref: UMLS:C1861821 is_a: HP:0000518 ! Cataract created_by: peter creation_date: 2010-12-12T12:00:37Z [Term] id: HP:0010921 name: Coralliform cataract def: "A 'coral-like' pattern of opacity in the lens of the eye. That is, a cataract with an irregular, stellate form." [HPO:probinson, HPO:vkumar] xref: UMLS:C1392104 is_a: HP:0010920 ! Zonular cataract created_by: peter creation_date: 2010-12-12T12:16:28Z [Term] id: HP:0010922 name: Membranous cataract def: "A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens." [HPO:probinson, pmid:17539799] xref: MSH:D002386 xref: UMLS:C0524524 is_a: HP:0000518 ! Cataract created_by: peter creation_date: 2010-12-12T12:31:45Z [Term] id: HP:0010923 name: Anterior subcapsular cataract def: "A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule." [HPO:probinson] xref: SNOMEDCT_US:315352000 xref: UMLS:C1112768 is_a: HP:0000523 ! Subcapsular cataract created_by: peter creation_date: 2010-12-12T12:51:55Z [Term] id: HP:0010924 name: Posterior cortical cataract def: "A cataract that affects the posterior part of the cortex of the lens." [HPO:probinson] xref: UMLS:C4023650 is_a: HP:0100019 ! Cortical cataract created_by: peter creation_date: 2010-12-12T12:55:36Z [Term] id: HP:0010925 name: Nuclear punctate cataract xref: UMLS:C4023649 is_a: HP:0007648 ! Punctate cataract is_a: HP:0100018 ! Nuclear cataract created_by: peter creation_date: 2010-12-12T04:26:25Z [Term] id: HP:0010926 name: Aculeiform cataract def: "A kind of nuclear cataract characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens." [HPO:probinson, pmid:9718335] comment: This phenotype is characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens. Some crystals may be 11 mm in length, and their biochemical composition is not known. This type of cataract is considered to be different from the corraliform cataract, which does not show the needlelike projections. This opacity does not appear to respect the sutures or the direction of the lens fibers (Francois 1963) and appears to originate from the fetal and postnatal nuclei, suggesting a congenital origin with some postnatal progression, if any. synonym: "Fasciculiform cataract" EXACT [] synonym: "Frosted cataract" EXACT [] synonym: "Needle-shaped cataract" EXACT [] xref: MSH:C566162 xref: UMLS:C1861832 is_a: HP:0100018 ! Nuclear cataract created_by: peter creation_date: 2010-12-19T03:47:35Z [Term] id: HP:0010927 name: Abnormal blood inorganic cation concentration def: "An abnormality of divalent inorganic cation homeostasis." [HPO:probinson] synonym: "Abnormality of divalent inorganic cation homeostasis" EXACT [] xref: UMLS:C4023648 is_a: HP:0010929 ! Abnormal blood cation concentration created_by: peter creation_date: 2011-01-06T07:47:18Z [Term] id: HP:0010928 name: obsolete Increased urinary orotic acid concentration is_obsolete: true replaced_by: HP:0003218 [Term] id: HP:0010929 name: Abnormal blood cation concentration def: "An abnormality of cation homeostasis." [HPO:probinson] synonym: "Abnormality of cation homeostasis" EXACT [] xref: UMLS:C4023646 is_a: HP:0003111 ! Abnormal blood ion concentration created_by: peter creation_date: 2011-01-06T10:36:04Z [Term] id: HP:0010930 name: Abnormal blood monovalent inorganic cation concentration def: "An abnormality of monovalent inorganic cation homeostasis." [HPO:probinson] synonym: "Abnormality of monovalent inorganic cation homeostasis" EXACT [] xref: UMLS:C4023645 is_a: HP:0010929 ! Abnormal blood cation concentration created_by: peter creation_date: 2011-01-06T10:38:38Z [Term] id: HP:0010931 name: Abnormal blood sodium concentration def: "An abnormal concentration of sodium." [HPO:probinson] synonym: "Abnormal blood Na+ levels" EXACT HP:0045077 [] synonym: "Abnormal circulating Na concentration" EXACT HP:0045077 [] synonym: "Abnormality of sodium homeostasis" EXACT [] xref: UMLS:C4023644 is_a: HP:0010930 ! Abnormal blood monovalent inorganic cation concentration created_by: peter creation_date: 2011-01-06T10:40:20Z [Term] id: HP:0010932 name: Abnormal circulating nucleobase concentration def: "An abnormality of a nucleobase metabolic process." [HPO:probinson] comment: This term is used to refers to abnormality in chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine. synonym: "Abnormal nucleoside levels" RELATED [] xref: UMLS:C4020762 xref: UMLS:C4023643 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis created_by: peter creation_date: 2011-01-06T10:46:17Z [Term] id: HP:0010933 name: Hyperxanthinemia def: "An increased level of xanthine in the blood circulation." [HPO:probinson, PMID:9153281] comment: Xanthine is a purine base that is a product of purine degradation. xref: UMLS:C4023642 is_a: HP:0004368 ! Increased purine level created_by: peter creation_date: 2011-01-10T07:53:26Z [Term] id: HP:0010934 name: Xanthinuria def: "An increased concentration of xanthine in the urine." [HPO:gcarletti] comment: Xanthinuria is generally caused by a defect in the xanthine oxidase, an enzyme that catalyzes the oxidation of hypoxanthine to xanthine and can further catalyze the oxidation of xanthine to uric acid. The formation of xanthine stones in the urinary tract is the main evidence of this abnormality. synonym: "Increased urinary xanthine" EXACT [] xref: SNOMEDCT_US:190919008 xref: SNOMEDCT_US:54627004 xref: UMLS:C0220988 is_a: HP:0003110 ! Abnormality of urine homeostasis created_by: peter creation_date: 2011-01-10T07:55:12Z [Term] id: HP:0010935 name: Abnormality of the upper urinary tract def: "An abnormality of the upper urinary tract." [HPO:probinson] comment: The upper urinary tract is a subdivision of urinary system which consists of the kidney and the ureters. synonym: "Abnormality of the upper urinary tract" EXACT layperson [] xref: UMLS:C4023641 is_a: HP:0000079 ! Abnormality of the urinary system created_by: peter creation_date: 2011-01-16T11:37:29Z [Term] id: HP:0010936 name: Abnormality of the lower urinary tract def: "An abnormality of the lower urinary tract." [HPO:probinson] comment: The lower urinary tract is a subdivision of urinary system which consists of the urinary bladder and the urethra. xref: UMLS:C4023640 is_a: HP:0000079 ! Abnormality of the urinary system created_by: peter creation_date: 2011-01-16T11:39:17Z [Term] id: HP:0010937 name: Abnormality of the nasal skeleton def: "An abnormality of the nasal skeleton." [HPO:probinson] synonym: "Abnormality of the nasal skeleton" EXACT layperson [] synonym: "Anomaly of the nasal skeleton" EXACT [ORCID:0000-0001-5889-4463] synonym: "Deformity of the bones of the nose" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Deformity of the nasal skeleton" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Distortion of the bones of the nose" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Distortion of the nasal skeleton" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of the bones of the nose" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of the nasal skeleton" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023639 xref: UMLS:C4280361 is_a: HP:0000366 ! Abnormality of the nose is_a: HP:0000924 ! Abnormality of the skeletal system created_by: peter creation_date: 2011-01-16T02:19:38Z [Term] id: HP:0010938 name: Abnormality of the external nose def: "An abnormality of the external nose." [HPO:probinson] synonym: "Abnormality of the external nose" EXACT layperson [] synonym: "Anomaly of the external nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Deformity of the external nose" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of the external nose" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C2164724 xref: UMLS:C4023638 xref: UMLS:C4280360 is_a: HP:0000366 ! Abnormality of the nose created_by: peter creation_date: 2011-01-16T02:21:10Z [Term] id: HP:0010939 name: Abnormality of the nasal bone def: "An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone." [HPO:probinson] synonym: "Abnormality of the nasal bone" EXACT layperson [] synonym: "Anomaly of the nasal bones" EXACT [ORCID:0000-0001-5889-4463] synonym: "Deformity of the nasal bones" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of the nasal bones" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023637 is_a: HP:0010937 ! Abnormality of the nasal skeleton created_by: peter creation_date: 2011-01-16T02:28:45Z [Term] id: HP:0010940 name: Aplasia/Hypoplasia of the nasal bone def: "Absence or underdevelopment of the nasal bone." [HPO:probinson] xref: UMLS:C4023636 is_a: HP:0010939 ! Abnormality of the nasal bone created_by: peter creation_date: 2011-01-16T02:31:16Z [Term] id: HP:0010941 name: Aplasia of the nasal bone def: "Absence of the nasal bone." [HPO:probinson] synonym: "Absence of the nasal bone" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Agenesis of the nasal bone" NARROW [ORCID:0000-0001-5889-4463] synonym: "Failure of development of the nasal bone" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Lack of development of the nasal bone" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Missing nasal bone" NARROW layperson [ORCID:0000-0001-5889-4463] xref: MSH:C562753 xref: SNOMEDCT_US:91900007 xref: UMLS:C0339850 xref: UMLS:C0339851 xref: UMLS:C4023635 is_a: HP:0010940 ! Aplasia/Hypoplasia of the nasal bone created_by: peter creation_date: 2011-01-16T02:32:39Z [Term] id: HP:0010942 name: Echogenic intracardiac focus def: "A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart." [HPO:probinson, pmid:16100637, pmid:9527573] comment: An echogenic intracardiac focus (EIF) is generally believed to be a normal variant, observed in 5% of all fetuses during second trimester sonography, but the risk of aneuploidies such as Down syndrome is increased in fetuses with EIF. xref: UMLS:C4023634 is_a: HP:0010948 ! Abnormality of the fetal cardiovascular system is_a: HP:0011425 ! Fetal ultrasound soft marker created_by: peter creation_date: 2011-01-16T02:52:26Z [Term] id: HP:0010943 name: Echogenic fetal bowel def: "Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone." [HPO:probinson, pmid:16100637, pmid:20175047] comment: Echogenic fetal bowel may be observed in fetuses with normal outcomes, but may also be a marker for diseases such as cystic fibrosis, congenital infection, chromosomal anomalies, and intraamniotic bleeding. This finding can be observed on prenatal ultrasound. The echogenicity has been classified as either focal or multifocal. Grade 2 suggests that echogenicity is equal to bone whereas grade 3 suggests that it is greater. synonym: "Echogenic bowel" EXACT [] xref: MSH:D058535 xref: UMLS:C2936423 is_a: HP:0011425 ! Fetal ultrasound soft marker created_by: peter creation_date: 2011-01-16T03:04:36Z [Term] id: HP:0010944 name: Abnormal renal pelvis morphology def: "An abnormality of the renal pelvis." [HPO:probinson] synonym: "Abnormality of the renal pelvis" EXACT [] xref: UMLS:C4023633 is_a: HP:0012210 ! Abnormal renal morphology created_by: peter creation_date: 2011-01-16T03:33:55Z [Term] id: HP:0010945 name: Fetal pyelectasis def: "Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement." [HPO:probinson, pmid:16100637] comment: The renal pelvis is the part of the kidney that collects urine. Fetal pyelectasis is a prenatal ultrasound finding that is diagnosed with enlargement of the renal pelvis from 4 to 10 millimeters. In many cases, fetal pyelectasis resolves spontaneously. Note that dilatation of the renal pelvis to more than 10 mm is referred to as severe pyelectasis or hydronephrosis. Measurements less than 5mm are normal, should not be designated as pyelectasis, and should not be reported (pmid:16100637). synonym: "Fetal renal pelvic dilatation" EXACT [] synonym: "Mild fetal hydronephrosis" EXACT [] xref: MSH:D058536 xref: SNOMEDCT_US:430035004 xref: UMLS:C2317073 is_a: HP:0010946 ! Dilatation of the renal pelvis is_a: HP:0011425 ! Fetal ultrasound soft marker created_by: peter creation_date: 2011-01-16T03:36:31Z [Term] id: HP:0010946 name: Dilatation of the renal pelvis def: "The presence of dilatation of the renal pelvis." [HPO:probinson] xref: UMLS:C1868864 is_a: HP:0010944 ! Abnormal renal pelvis morphology created_by: peter creation_date: 2011-01-16T03:39:20Z [Term] id: HP:0010947 name: Abnormality of ductus venosus blood flow def: "A first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus." [HPO:probinson, pmid:16449256, pmid:21048453] comment: The ductus venosus is a bypass between the umbilical vein and the inferior vena cava in the fetus. The blood flow through this bypass decreases immediately after birth. Functional closure, which is followed by anatomic closure, is virtually complete within a few weeks of birth. The typical abnormal finding in abnormal ductus venosus flow is a reversed a-wave. xref: UMLS:C4023632 is_a: HP:0010948 ! Abnormality of the fetal cardiovascular system created_by: peter creation_date: 2011-01-16T03:50:45Z [Term] id: HP:0010948 name: Abnormality of the fetal cardiovascular system def: "An abnormality of the fetal circulation system or fetal echocardiogram." [DDD:dbrown, HPO:probinson] synonym: "Abnormality of the fetal circulation system" EXACT [] xref: UMLS:C4021210 is_a: HP:0001626 ! Abnormality of the cardiovascular system created_by: peter creation_date: 2011-01-16T03:53:44Z [Term] id: HP:0010949 name: Abnormality of umbilical vein blood flow def: "A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein." [HPO:probinson] comment: Umbilical vein blood flow (UVBF) is closely related to the mass of placental cotyledons and is considered an expression of the amount of oxygen and nutrients transferred from the mother to the fetus. xref: UMLS:C4023631 is_a: HP:0010948 ! Abnormality of the fetal cardiovascular system is_a: HP:0011403 ! Abnormal umbilical cord blood vessels created_by: peter creation_date: 2011-01-16T04:15:43Z [Term] id: HP:0010950 name: Abnormality of the fourth ventricle def: "An abnormality of the fourth ventricle." [HPO:probinson] comment: The fourth ventricle is the cerebral ventricle that extends from the cerebral aqueduct to the obex, and is located within the pons and the upper part of the medulla oblongata. xref: UMLS:C4023630 is_a: HP:0002118 ! Abnormality of the cerebral ventricles created_by: peter creation_date: 2011-01-17T12:58:00Z [Term] id: HP:0010951 name: Abnormality of the third ventricle def: "An abnormality of the third ventricle." [HPO:probinson] comment: The third ventricle is the cerebral ventricle that is located in the midline between the left and right lateral ventricles. xref: UMLS:C4023629 is_a: HP:0002118 ! Abnormality of the cerebral ventricles created_by: peter creation_date: 2011-01-17T01:00:31Z [Term] id: HP:0010952 name: Mild fetal ventriculomegaly def: "A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (pmid:16100637)." [HPO:probinson, pmid:16100637] comment: A ventricular atrial diameter of more than 10 mm at 20-24 weeks of gestation has been accepted as defining ventriculomegaly because it represents at least 3 standard deviations above the mean (which is roughly 5 mm at 20-24 weeks of gestation). If the diameter is above 15 mm, the ventriculomegaly is considered to be severe. Amongst the most common causes of ventriculomegaly are impaired absorption of CSF, developmental cerebral defects, and destroyed brain tissue. xref: UMLS:C4023628 is_a: HP:0002119 ! Ventriculomegaly is_a: HP:0011425 ! Fetal ultrasound soft marker created_by: peter creation_date: 2011-01-17T01:36:57Z [Term] id: HP:0010953 name: Noncommunicating hydrocephalus def: "A form of hydrocephalus in which the flow of cerebrospinal fluid (CSF) within the cerebral ventricular system or in the outlets of the CSF to the arachnoid space is obstructed." [eMedicine:1135286, HPO:probinson] comment: The most common form of noncommunicating hydrocephalus is obstructive and is caused by intraventricular or extraventricular mass-occupying lesions that disrupt the ventricular anatomy. xref: MSH:D006849 xref: SNOMEDCT_US:230746009 xref: SNOMEDCT_US:82346000 xref: UMLS:C0549423 is_a: HP:0000238 ! Hydrocephalus created_by: peter creation_date: 2011-01-17T02:22:26Z [Term] id: HP:0010954 name: Hypoplastic right heart def: "Underdevelopment of the right-sided structures of the heart." [HPO:probinson] comment: Hypoplastic right heart syndrome (HRHS) causes inadequate blood flow to the lungs postnatally and thus leads to cyanosis. HRHS involves pulmonary valve atresia, hypoplasia of the right ventricle, hypoplasia of the tricuspid valve, and a small, hypoplastic pulmonary artery. As the ductus arteriosus closes postnatally, infants with HRHS become critically ill. synonym: "Hypoplastic right heart syndrome" EXACT [ORCID:0000-0001-6908-9849] synonym: "Underdeveloped right heart" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:268180007 xref: SNOMEDCT_US:39589002 xref: UMLS:C0265856 xref: UMLS:C0344963 is_a: HP:0001961 ! Hypoplastic heart is_a: HP:0011723 ! Congenital malformation of the right heart created_by: peter creation_date: 2011-01-17T03:31:37Z [Term] id: HP:0010955 name: Dilatation of the bladder def: "The presence of a dilated urinary bladder." [HPO:probinson] xref: UMLS:C0549253 is_a: HP:0025487 ! Abnormality of bladder morphology created_by: peter creation_date: 2011-01-18T10:42:26Z [Term] id: HP:0010956 name: Fetal megacystis def: "Fetal megacystis is an abnormally enlarged bladder identified at any gestational age." [HPO:probinson, pmid:20837325] comment: Abnormal enlargement of the fetal bladder can be detected by prenatal ultrasound by fourteen weeks of gestation. In some cases, dilatation of the fetal bladder is transient and resolves without sequelae, and in other cases it is the earliest manifestation of bladder outlet obstruction. xref: MSH:C536139 xref: UMLS:C2931117 is_a: HP:0010955 ! Dilatation of the bladder created_by: peter creation_date: 2011-01-18T10:43:58Z [Term] id: HP:0010957 name: Congenital posterior urethral valve def: "A developmental defect resulting in an obstructing membrane in the posterior male urethra." [eMedicine:1016086, HPO:probinson] comment: Congenital posterior urethral valve is a cause of bladder outlet obstruction in male newborns. It results from a failure of resorption of the caudal end of the Wolffian duct into the primitive cloaca at the site of the future verumontanum in the posterior urethra (Following normal resorption of the posterior urethral valve there remain the posterior urethral folds, also called plicae colliculi). synonym: "Posterior urethral valve" EXACT [] synonym: "Posterior urethral valves" RELATED [HPO:skoehler] xref: SNOMEDCT_US:253900005 xref: UMLS:C0238506 is_a: HP:0010481 ! Urethral valve created_by: peter creation_date: 2011-01-18T10:51:22Z [Term] id: HP:0010958 name: Bilateral renal agenesis def: "A bilateral form of agenesis of the kidney." [HPO:probinson] xref: MSH:C536482 xref: SNOMEDCT_US:41962002 xref: UMLS:C1609433 is_a: HP:0000104 ! Renal agenesis created_by: peter creation_date: 2011-01-18T11:42:58Z [Term] id: HP:0010959 name: Congenital cystic adenomatoid malformation of the lung alt_id: HP:0006540 alt_id: HP:0006545 def: "Congenital cystic adenomatoid malformation (CCAM) can be diagnosed prenatally if ultrasound shows a cystic or solid lung tumor. A CCAM does not have systemic arterial blood supply (in contrast to bronchopulmonary sequenstration). It is a cystic area within the lung that originates from abnormal embryogenesis." [HPO:probinson] comment: Congenital cystic adenomatoid malformation (CCAM) results in a multicystic mass that replaces the normal lung structure. CCAM is usually unilateral and confined to a single lobe of the lung. synonym: "CCAM" EXACT HP:0045077 [] synonym: "Congenital cystic disease of the lung" EXACT [] synonym: "Cystic adenomatoid lung disease" EXACT [] xref: MSH:D015615 xref: SNOMEDCT_US:111318005 xref: UMLS:C0010668 is_a: HP:0005948 ! Multiple pulmonary cysts created_by: peter creation_date: 2011-01-18T11:56:02Z [Term] id: HP:0010960 name: Bronchopulmonary sequestration def: "The presence of microscopic cystic masses of nonfunctioning pulmonary tissue that lack an obvious communication with the tracheobronchial tree." [HPO:probinson, pmid:20610189] comment: Typically, the lung tissue in BPS receives all or most of its blood supply from an anomalous systemic artery, with the origin of this artery being variable. xref: MSH:D001998 xref: SNOMEDCT_US:18620009 xref: UMLS:C0006288 is_a: HP:0002088 ! Abnormal lung morphology created_by: peter creation_date: 2011-01-18T12:28:51Z [Term] id: HP:0010961 name: Intralobar sequestration def: "A kind of bronchopulmonary sequestration that is incorporated into the normal surrounding lung." [HPO:probinson, pmid:20610189] comment: Intralobar sequestration (ILS) may be diagnosed on antenatal ultrasound screening. ILS can be asymptomatic in later life or can lead to signs and symptoms related to inadequate tracheobronchial drainage caused by the lesion of adjacent atelectatic lung. xref: UMLS:C4023627 is_a: HP:0010960 ! Bronchopulmonary sequestration created_by: peter creation_date: 2011-01-18T12:34:14Z [Term] id: HP:0010962 name: Extralobar sequestration def: "A kind of bronchopulmonary sequestration that is completely discrete from the normal lung and is surrounded by separate pleura." [HPO:probinson, pmid:20610189] comment: Extralobar sequestration (ELS) may be asymptomatic. Infants with symptomatic lesions may present with respiratory distress, pneumonia, feeding difficulties, hemorrhage, or even congestive heart failure. The sequestered lobe may cause substantial arteriovenous shunting, leading to high-output cardiac failure. xref: UMLS:C4023626 is_a: HP:0010960 ! Bronchopulmonary sequestration created_by: peter creation_date: 2011-01-18T12:36:55Z [Term] id: HP:0010963 name: Absence of stomach bubble on fetal sonography def: "By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation." [HPO:probinson] comment: The absence of stomach bubble on fetal sonography can be an indication of malformations such as esophageal atresia, especially in combination with polyhydramnios. xref: UMLS:C4023625 is_a: HP:0011425 ! Fetal ultrasound soft marker created_by: peter creation_date: 2011-01-18T12:45:41Z [Term] id: HP:0010964 name: Abnormal circulating long-chain fatty-acid concentration def: "Any deviation from the normal concentration of a long-chain fatty acid in the blood circulation." [HPO:probinson] comment: A long-chain fatty-acid is defined as an aliphatic monocarboxylic acid with a chain length of C13 to C18. xref: UMLS:C4023624 is_a: HP:0004359 ! Abnormal circulating fatty-acid concentration created_by: peter creation_date: 2011-01-27T08:05:00Z [Term] id: HP:0010965 name: Abnormal circulating phytanic acid level def: "Any deviation from the normal concentration of phytanic acid in the blood circulation." [HPO:probinson] comment: Phytanic acid is a branched-chain saturated fatty acid consisting of hexadecanoic acid carrying methyl substituents at positions 3, 7, 11 and 15. xref: UMLS:C4023623 is_a: HP:0010964 ! Abnormal circulating long-chain fatty-acid concentration created_by: peter creation_date: 2011-01-27T08:07:48Z [Term] id: HP:0010966 name: Abnormal circulating fatty-acid anion concentration def: "Any deviation from the normal concentration of a fatty acid anion in the blood circulation." [HPO:probinson] comment: A fatty acid anion is the conjugate base of a fatty acid. synonym: "Abnormality of fatty acid anion" EXACT [] xref: UMLS:C4021209 is_a: HP:0004359 ! Abnormal circulating fatty-acid concentration created_by: peter creation_date: 2011-01-27T09:17:48Z [Term] id: HP:0010967 name: Abnormal circulating carnitine concentration def: "Any deviation from the normal concentration of carnitine in the blood circulation." [HPO:gcarletti] comment: L-carnitine (3-hydroxy-4-N.trimethylammonium butyrate) plays a key role in facilitating the transport of long-chain fatty acids from the cytosol into the mitochondrial matrix, where they undergo 13-oxidation. synonym: "Carnitine levels abnormal" RELATED [] xref: UMLS:C4020761 xref: UMLS:C4021855 is_a: HP:0010966 ! Abnormal circulating fatty-acid anion concentration created_by: peter creation_date: 2011-01-27T09:19:42Z [Term] id: HP:0010968 name: Abnormality of liposaccharide metabolism def: "An abnormality of liposaccharide metabolism." [HPO:probinson] xref: UMLS:C4023622 is_a: HP:0032243 ! Abnormal tissue metabolite concentration created_by: peter creation_date: 2011-01-27T09:22:56Z [Term] id: HP:0010969 name: Abnormality of glycolipid metabolism def: "An abnormality of glycolipid metabolism." [HPO:probinson] xref: UMLS:C4023621 is_a: HP:0032243 ! Abnormal tissue metabolite concentration created_by: peter creation_date: 2011-01-27T09:25:31Z [Term] id: HP:0010970 name: Blood group antigen abnormality def: "An abnormality of an erythrocyte cell surface molecule." [HPO:probinson] comment: During development, the human immune system recognizes antigens of the body as 'self' and does not generate antibodies against them. xref: UMLS:C4023620 is_a: HP:0001877 ! Abnormal erythrocyte morphology created_by: peter creation_date: 2011-02-06T12:37:33Z [Term] id: HP:0010971 name: Absence of Lutheran antigen on erythrocytes def: "Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells." [HPO:probinson] xref: UMLS:C4023619 is_a: HP:0010970 ! Blood group antigen abnormality created_by: peter creation_date: 2011-02-06T12:40:21Z [Term] id: HP:0010972 name: Anemia of inadequate production alt_id: HP:0005501 alt_id: HP:0005504 alt_id: HP:0005553 def: "A kind of anemia characterized by inadequate production of erythrocytes." [HPO:probinson] synonym: "Anemia, dyserythropoietic" EXACT [] synonym: "Defective erythropoiesis" EXACT [] synonym: "Dyserythropoietic anemia" EXACT [] synonym: "Ineffective erythropoiesis" EXACT [] xref: SNOMEDCT_US:70730006 xref: UMLS:C0392708 xref: UMLS:C0678199 is_a: HP:0001903 ! Anemia created_by: peter creation_date: 2011-02-06T02:24:54Z [Term] id: HP:0010974 name: Abnormal myeloid leukocyte morphology def: "An abnormality of myeloid leukocytes." [HPO:probinson] comment: A myeloid leukocyte refers to a cell of the monocyte, granulocyte, or mast cell lineage. synonym: "Abnormality of myeloid leukocytes" EXACT [] xref: UMLS:C4023618 is_a: HP:0001881 ! Abnormal leukocyte morphology created_by: peter creation_date: 2011-02-06T09:24:46Z [Term] id: HP:0010975 name: Abnormal B cell count def: "A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells." [HPO:probinson, MP:0002458] synonym: "Abnormal number of B cells" EXACT [HPO:skoehler] synonym: "Abnormal numbers of B cells" EXACT [HPO:skoehler] synonym: "Abnormality of B cell count" EXACT [] synonym: "Abnormality of B cell numbers" EXACT [] xref: UMLS:C4021208 is_a: HP:0002846 ! Abnormal B cell morphology is_a: HP:0040088 ! Abnormal lymphocyte count created_by: peter creation_date: 2011-02-06T09:38:18Z [Term] id: HP:0010976 name: B lymphocytopenia alt_id: HP:0002956 def: "An abnormal decrease from the normal count of B cells." [HPO:probinson] comment: Plasma B cells differentiate from B cells and secrete large amounts of antibodies. synonym: "B cell lymphopenia" EXACT [] synonym: "Low B cell count" EXACT layperson [] synonym: "Reduction in B cell number" EXACT [] xref: UMLS:C1855067 is_a: HP:0001888 ! Lymphopenia created_by: peter creation_date: 2011-02-06T09:44:11Z [Term] id: HP:0010977 name: Abnormal phagocytosis def: "An abnormal functioning of phagocytosis. Phagocytosis is an elegant but complex process for the ingestion and elimination of pathogens, but it is also important for the elimination of apoptotic cells and hence fundamental for tissue homeostasis. Phagocytosis can be divided into four main steps: (i) recognition of the target particle, (ii) signaling to activate the internalization machinery, (iii) phagosome formation, and (iv) phagolysosome maturation." [HPO:probinson, PMID:28691037] xref: UMLS:C4023617 is_a: HP:0010978 ! Abnormality of immune system physiology created_by: peter creation_date: 2011-02-06T10:31:46Z [Term] id: HP:0010978 name: Abnormality of immune system physiology def: "A functional abnormality of the immune system." [HPO:probinson, MP:0001790] xref: UMLS:C4023616 is_a: HP:0002715 ! Abnormality of the immune system created_by: peter creation_date: 2011-02-07T04:28:55Z [Term] id: HP:0010979 name: Abnormality of lipoprotein cholesterol concentration def: "An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood." [HPO:probinson] comment: Lipoproteins transport fats (lipids) in the blood circulation. Lipids are insoluble in water, meaning that they could not be transported in the blood circulation on their own. There are five major types of lipoproteins: (i) chylomicrons; VLDL (very low-density lipoprotein); (iii) IDL (intermediate-density lipoprotein); (iv) LDL (low-density lipoprotein); and (v) HDL (high-density lipoprotein). Clinical measures assess the amount of cholesterol carried by different lipoproteins. For instance, LDL-cholesterol (LDL-C) is the maount of cholesterol carried by LDL. synonym: "Abnormality of the level of lipoprotein cholesterol" EXACT [] xref: UMLS:C4023615 is_a: HP:0003107 ! Abnormal circulating cholesterol concentration created_by: peter creation_date: 2011-02-07T09:47:29Z [Term] id: HP:0010980 name: Hyperlipoproteinemia def: "An abnormal increase in the level of lipoprotein cholesterol in the blood." [HPO:probinson] xref: MSH:D006951 xref: SNOMEDCT_US:3744001 xref: UMLS:C0020476 is_a: HP:0010979 ! Abnormality of lipoprotein cholesterol concentration created_by: peter creation_date: 2011-02-07T10:56:30Z [Term] id: HP:0010981 name: Hypolipoproteinemia def: "An abnormal decrease in the level of lipoprotein cholesterol in the blood." [HPO:proteinemia] synonym: "Lack of fat in blood" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D007009 xref: SNOMEDCT_US:267436001 xref: SNOMEDCT_US:363140000 xref: UMLS:C0020623 is_a: HP:0010979 ! Abnormality of lipoprotein cholesterol concentration created_by: peter creation_date: 2011-02-07T11:01:50Z [Term] id: HP:0010982 name: Polygenic inheritance def: "A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci." [HPO:probinson, ISBN:978-0192628961] xref: MSH:D020412 xref: UMLS:C1148552 is_a: HP:0001426 ! Multifactorial inheritance created_by: peter creation_date: 2011-02-08T10:12:39Z [Term] id: HP:0010983 name: Oligogenic inheritance def: "A type of multifactorial inheritance governed by the simultaneous action of a few gene loci. It is recommended this term be used for traits governed by three loci, although it is noted that usage of this term in the literature is not uniform." [HPO:probinson, ISBN:978-0192628961] xref: MSH:D020412 xref: UMLS:C1136026 is_a: HP:0001426 ! Multifactorial inheritance created_by: peter creation_date: 2011-02-08T10:13:16Z [Term] id: HP:0010984 name: Digenic inheritance def: "A type of multifactorial inheritance governed by the simultaneous action of two gene loci." [HPO:probinson, ISBN:978-0192628961] xref: UMLS:C4023614 is_a: HP:0001426 ! Multifactorial inheritance created_by: peter creation_date: 2011-02-08T10:13:54Z [Term] id: HP:0010985 name: Gonosomal inheritance def: "A mode of inheritance that is observed for traits related to a gene encoded on the sex chromosomes." [HPO:probinson] xref: UMLS:C4023613 is_a: HP:0000005 ! Mode of inheritance created_by: peter creation_date: 2011-02-08T10:16:28Z [Term] id: HP:0010987 name: Abnormal cellular immune system morphology def: "An abnormality of the morphology or counts of the cells that make up the immune system." [HPO:probinson] xref: UMLS:C4023612 is_a: HP:0032251 ! Abnormal immune system morphology created_by: peter creation_date: 2011-02-08T12:49:47Z [Term] id: HP:0010988 name: Abnormality of the extrinsic pathway def: "An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade." [HPO:probinson] comment: The extrinsic pathway is a protein activation cascade that contributes to blood coagulation and consists of the self-limited process linking exposure and activation of tissue factor to the activation of clotting factor X. xref: UMLS:C4023611 is_a: HP:0003256 ! Abnormality of the coagulation cascade created_by: peter creation_date: 2011-02-08T01:59:22Z [Term] id: HP:0010989 name: Abnormality of the intrinsic pathway def: "An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade." [HPO:probinson] comment: The intrinsic pathway requires coagulation factors VIII, IX, X, XI, and XII, as well as the proteins prekallikrein (PK) and high-molecular-weight kininogen (HK or HMWK), in addition to calcium ions and phospholipids secreted from platelets. xref: UMLS:C4023610 is_a: HP:0003256 ! Abnormality of the coagulation cascade created_by: peter creation_date: 2011-02-08T04:26:55Z [Term] id: HP:0010990 name: Abnormality of the common coagulation pathway def: "An abnormality of blood coagulation, common pathway." [HPO:probinson] comment: The common pathway is a protein activation cascade that contributes to blood coagulation and consists of events leading from the formation of activated factor X to the formation of active thrombin, the cleavage of fibrinogen by thrombin, and the formation of cleaved fibrin into a stable multimeric, cross-linked complex. xref: UMLS:C4023609 is_a: HP:0003256 ! Abnormality of the coagulation cascade created_by: peter creation_date: 2011-02-08T04:31:53Z [Term] id: HP:0010991 name: Abnormality of the abdominal musculature def: "An abnormality of the abdominal musculature." [HPO:probinson] xref: UMLS:C4023608 is_a: HP:0003011 ! Abnormality of the musculature is_a: HP:0004298 ! Abnormality of the abdominal wall created_by: peter creation_date: 2011-02-09T08:05:11Z [Term] id: HP:0010992 name: Stress urinary incontinence def: "Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing." [HPO:probinson, pmid:12559262] xref: MSH:D014550 xref: SNOMEDCT_US:22220005 xref: UMLS:C0042025 is_a: HP:0000020 ! Urinary incontinence created_by: peter creation_date: 2011-02-09T12:13:46Z [Term] id: HP:0010993 name: Abnormality of the cerebral subcortex def: "An abnormality of the cerebral subcortex." [HPO:probinson] comment: The cerebral subcortex contains the basal ganglia and the cerebral white matter. synonym: "Abnormality of the cerebral medulla" EXACT [] xref: UMLS:C4021207 is_a: HP:0002060 ! Abnormality of the cerebrum created_by: peter creation_date: 2011-02-09T10:32:54Z [Term] id: HP:0010994 name: Abnormal corpus striatum morphology def: "Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens." [HPO:probinson, PMID:21469956] comment: The striatum (also known as the neostriatum or striate nucleus) contains the caudate nucleus and putamen, which are separated from one another by a white matter tract called the internal capsule. The striatum is part of the basal ganglia and receives input from the cerebral cortex. Essentially all cortical areas (sensory, motor and associational) project to the striatum. The other major input to the striatum comes from the thalamus, particularly the intralaminar thalamic nuclei. synonym: "Abnormality of the neostriatum" EXACT [ORCID:0000-0001-6908-9849] synonym: "Abnormality of the striate nucleus" EXACT [ORCID:0000-0001-6908-9849] synonym: "Abnormality of the striatum" EXACT [] xref: UMLS:C4023607 is_a: HP:0002134 ! Abnormality of the basal ganglia created_by: peter creation_date: 2011-02-10T08:31:42Z [Term] id: HP:0010995 name: Abnormal circulating dicarboxylic acid concentration def: "Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation." [HPO:probinson] comment: A dicarboxylic acid is an oxoacid containing two carboxy groups. xref: UMLS:C4023606 is_a: HP:0004354 ! Abnormal circulating carboxylic acid concentration created_by: peter creation_date: 2011-02-10T02:01:02Z [Term] id: HP:0010996 name: Abnormal circulating monocarboxylic acid cocentration def: "Any deviation from the normal concentration of a monocarboxylic acid in the blood circulation." [HPO:gcarletti] xref: UMLS:C4023605 is_a: HP:0004354 ! Abnormal circulating carboxylic acid concentration created_by: peter creation_date: 2011-02-10T02:20:42Z [Term] id: HP:0010997 name: Chromosomal breakage induced by ionizing radiation def: "Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation." [HPO:sdoelken, pmid:16814619] comment: Increased tendency to chromosomal breakage induced by crosslinking agents is typical for several disorders including ataxia teleangiectasia and Nijmegen breakage syndrome. synonym: "Increased cellular radiosensitivity" EXACT [] synonym: "Radiation-induced chromosome instability" EXACT [] xref: UMLS:C4021206 is_a: HP:0040012 ! Chromosome breakage created_by: peter creation_date: 2011-02-10T06:10:33Z [Term] id: HP:0010998 name: Increased susceptibility to spontaneous sister chromatid exchange def: "An increase in the number of spontaneous sister chromatid exchanges observed in cell culture of lymphocytes or other cells." [HPO:sdoelken] comment: Increased susceptibility to spontaneous sister chromatid exchange is characteristic for Bloom syndrome. xref: UMLS:C4023604 is_a: HP:0003220 ! Abnormality of chromosome stability created_by: peter creation_date: 2011-02-10T06:14:16Z [Term] id: HP:0010999 is_anonymous: true name: Aplasia of the optic tract synonym: "Absent optic tract" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023603 is_a: HP:0011000 ! Aplasia/Hypoplasia of the optic tract created_by: sdoelken creation_date: 2011-02-13T11:28:03Z [Term] id: HP:0011000 name: Aplasia/Hypoplasia of the optic tract synonym: "Absent/small optic tract" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Absent/underdeveloped optic tract" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023602 is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system created_by: sdoelken creation_date: 2011-02-13T11:28:43Z [Term] id: HP:0011001 name: Increased bone mineral density alt_id: HP:0002796 alt_id: HP:0004350 alt_id: HP:0005711 alt_id: HP:0005741 alt_id: HP:0010738 def: "An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones." [HPO:probinson] comment: This term may be merged with Increased bone density in the future or made obsolete. synonym: "Increased bone density" EXACT layperson [] synonym: "Increased bone mineral density" EXACT layperson [] synonym: "Osteosclerosis" EXACT [] synonym: "Osteosclerosis of bones" EXACT [] xref: MSH:D010026 xref: SNOMEDCT_US:49347007 xref: UMLS:C0029464 is_a: HP:0004348 ! Abnormality of bone mineral density created_by: sdoelken creation_date: 2011-02-13T11:57:32Z [Term] id: HP:0011002 name: Osteopetrosis def: "Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal." [HPO:probinson] synonym: "Albers-Schoenberg disease" RELATED [] synonym: "Albers-Schonberg disease" RELATED [] synonym: "Albers-Schönberg disease" RELATED [] synonym: "Harder, denser, fracture-prone bones" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Marble bone disease" RELATED [] xref: MSH:D010022 xref: SNOMEDCT_US:1926006 xref: SNOMEDCT_US:367489004 xref: UMLS:C0029454 is_a: HP:0011001 ! Increased bone mineral density created_by: sdoelken creation_date: 2011-02-13T11:58:36Z [Term] id: HP:0011003 name: High myopia alt_id: HP:0000569 def: "A severe form of myopia with greater than -6.00 diopters." [DDD:ncarter] subset: hposlim_core synonym: "Severe myopia" EXACT [] synonym: "Severe myopia (> -6.00 diopters)" EXACT [] synonym: "Severe near sightedness" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Severely close sighted" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Severely near sighted" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:34187009 xref: UMLS:C0271183 is_a: HP:0000545 ! Myopia created_by: sdoelken creation_date: 2011-02-13T12:56:48Z [Term] id: HP:0011004 name: Abnormal systemic arterial morphology alt_id: HP:0002620 alt_id: HP:0005114 def: "An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries." [HPO:probinson] synonym: "Abnormal systemic artery morphology" EXACT [] synonym: "Abnormality of the systemic arterial tree" EXACT [] synonym: "Arterial abnormalities" RELATED [] synonym: "Systemic artery abnormality" EXACT [] xref: Fyler:2600 xref: SNOMEDCT_US:234119001 xref: UMLS:C0151489 xref: UMLS:C4021205 is_a: HP:0025015 ! Abnormal vascular morphology created_by: peter creation_date: 2011-02-16T08:46:49Z [Term] id: HP:0011005 name: Mixed cirrhosis def: "A type of cirrhosis characterized by the presence of regenerative nodules of a variety of sizes." [HPO:probinson] comment: In mixed cirrhosis, there are regenerating nodules under and over 3 mm in size. xref: UMLS:C1392669 is_a: HP:0001394 ! Cirrhosis created_by: peter creation_date: 2011-02-17T09:01:14Z [Term] id: HP:0011006 name: Abnormality of the musculature of the neck def: "An abnormality of the neck musculature." [HPO:probinson] synonym: "Abnormality of cervical musculature" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the musculature of the neck" EXACT layperson [] synonym: "Neck muscle issue" EXACT layperson [] xref: UMLS:C4023601 is_a: HP:0000464 ! Abnormality of the neck is_a: HP:0003011 ! Abnormality of the musculature created_by: peter creation_date: 2011-02-19T11:15:01Z [Term] id: HP:0011008 name: Temporal pattern def: "The speed at which disease manifestations appear and develop." [HPO:probinson] synonym: "Speed of onset" EXACT [] xref: UMLS:C4021204 is_a: HP:0031797 ! Clinical course created_by: peter creation_date: 2011-02-20T10:22:32Z [Term] id: HP:0011009 name: Acute def: "Sudden appearance of disease manifestations over a short period of time." [HPO:probinson] comment: The word acute is applied to different time scales depending on the disease or manifestation and does not have an exact definition in minutes, hours, or days. synonym: "Acute onset" EXACT [] xref: SNOMEDCT_US:272118002 xref: UMLS:C0205178 is_a: HP:0011008 ! Temporal pattern created_by: peter creation_date: 2011-02-20T10:23:18Z [Term] id: HP:0011010 name: Chronic def: "Slow, creeping onset, slow progress and long continuance of disease manifestations." [HPO:probinson] comment: According to the U.S. National Center for Health Statistics, a chronic condition is one lasting 3 months or more. synonym: "Chronic" EXACT layperson [] xref: SNOMEDCT_US:90734009 xref: UMLS:C0205191 is_a: HP:0011008 ! Temporal pattern created_by: peter creation_date: 2011-02-20T10:25:55Z [Term] id: HP:0011011 name: Subacute def: "Somewhat rapid onset and change of disease manifestations." [HPO:probinson] comment: Subacute is between acute and chronic. xref: SNOMEDCT_US:19939008 xref: UMLS:C0205365 is_a: HP:0011008 ! Temporal pattern created_by: peter creation_date: 2011-02-20T10:27:54Z [Term] id: HP:0011012 name: Abnormal circulating polysaccharide concentration def: "A deviation from the normal concentration of a polysaccharide in the blood circulation." [HPO:probinson] xref: UMLS:C4023600 is_a: HP:0011013 ! Abnormal circulating carbohydrate concentration created_by: peter creation_date: 2011-02-21T09:46:11Z [Term] id: HP:0011013 name: Abnormal circulating carbohydrate concentration def: "A deviation from the normal concentration of a carbohydrate in the blood circulation." [HPO:probinson] comment: An abnormality of the metabolism (include abnormality of the concentration) of a carbohydrate, including monosaccharides, oligosaccharides and polysaccharides, and substances derived from them. xref: UMLS:C4023599 is_a: HP:0032180 ! Abnormal circulating metabolite concentration created_by: peter creation_date: 2011-02-21T09:47:27Z [Term] id: HP:0011014 name: Abnormal glucose homeostasis def: "Abnormality of glucose homeostasis." [HPO:probinson] comment: An abnormality of any process involved in the maintenance of an internal steady state of glucose within an organism or cell. xref: UMLS:C4023598 is_a: HP:0012337 ! Abnormal homeostasis created_by: peter creation_date: 2011-02-21T10:37:21Z [Term] id: HP:0011015 name: Abnormal blood glucose concentration def: "An abnormality of the concentration of glucose in the blood." [HPO:probinson] synonym: "Abnormality of blood glucose concentration" EXACT [] xref: UMLS:C4023597 is_a: HP:0011014 ! Abnormal glucose homeostasis created_by: peter creation_date: 2011-02-21T10:41:13Z [Term] id: HP:0011016 name: Abnormality of urine glucose concentration def: "An abnormality of the concentration of glucose in the urine." [HPO:gcarletti] xref: UMLS:C4023596 is_a: HP:0003110 ! Abnormality of urine homeostasis created_by: peter creation_date: 2011-02-21T11:09:32Z [Term] id: HP:0011017 name: Abnormal cellular physiology alt_id: HP:0025462 def: "An abnormality in a cellular process." [HPO:probinson] synonym: "Abnormality of cell physiology" EXACT [] xref: UMLS:C4023595 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis is_a: HP:0025354 ! Abnormal cellular phenotype created_by: peter creation_date: 2011-02-22T07:05:50Z [Term] id: HP:0011018 name: Abnormality of the cell cycle def: "An abnormality of the cell cycle." [HPO:probinson] synonym: "Abnormality of the cell cycle" EXACT layperson [] xref: UMLS:C4023594 is_a: HP:0011017 ! Abnormal cellular physiology created_by: peter creation_date: 2011-02-22T07:09:31Z [Term] id: HP:0011019 name: Abnormality of chromosome condensation def: "An abnormality of chromosome condensation." [HPO:probinson] xref: UMLS:C4023593 is_a: HP:0011017 ! Abnormal cellular physiology created_by: peter creation_date: 2011-02-22T07:19:30Z [Term] id: HP:0011020 name: Abnormality of mucopolysaccharide metabolism def: "An abnormality of the metabolism of mucopolysaccharide." [HPO:probinson] xref: UMLS:C4023592 is_a: HP:0004371 ! Abnormality of glycosaminoglycan metabolism created_by: peter creation_date: 2011-02-23T07:58:02Z [Term] id: HP:0011021 name: Abnormality of circulating enzyme level xref: UMLS:C4023591 is_a: HP:0010876 ! Abnormal circulating protein level created_by: peter creation_date: 2011-02-28T08:46:34Z [Term] id: HP:0011022 name: Abnormal circulating unsaturated fatty acid concentration def: "A deviation from the normal concentration of an unsaturated fatty acid in the blood circulation." [HPO:probinson] xref: UMLS:C4023590 is_a: HP:0004359 ! Abnormal circulating fatty-acid concentration created_by: peter creation_date: 2011-02-28T09:04:58Z [Term] id: HP:0011023 name: Abnormal circulating prostaglandin circulation def: "Any deviation from the normal concentration of a prostaglandin in the blood circulation." [HPO:probinson] xref: UMLS:C4023589 is_a: HP:0030361 ! Abnormal circulating eicosanoid concentration created_by: peter creation_date: 2011-02-28T09:19:20Z [Term] id: HP:0011024 name: Abnormality of the gastrointestinal tract def: "An abnormality of the gastrointestinal tract." [HPO:probinson] synonym: "Abnormality of the gastrointestinal tract" EXACT layperson [] synonym: "Abnormality of the GI tract" EXACT HP:0045077 [] synonym: "Digestive system disease" RELATED layperson [] synonym: "Gastrointestinal disease" RELATED layperson [] xref: MSH:D004066 xref: MSH:D005767 xref: SNOMEDCT_US:119292006 xref: SNOMEDCT_US:25374005 xref: SNOMEDCT_US:53619000 xref: UMLS:C0012242 xref: UMLS:C0017178 xref: UMLS:C4023588 is_a: HP:0025031 ! Abnormality of the digestive system created_by: peter creation_date: 2011-03-01T07:52:06Z [Term] id: HP:0011025 name: Abnormal cardiovascular system physiology def: "Abnormal functionality of the cardiovascular system." [HPO:probinson] synonym: "Abnormality of cardiovascular system physiology" EXACT [] xref: UMLS:C4023587 is_a: HP:0001626 ! Abnormality of the cardiovascular system created_by: peter creation_date: 2011-03-03T10:23:19Z [Term] id: HP:0011026 name: Aplasia/Hypoplasia of the vagina def: "Aplasia or developmental hypoplasia of the vagina." [HPO:probinson] synonym: "Absent/small vagina" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped vagina" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023586 is_a: HP:0000142 ! Abnormal vagina morphology created_by: peter creation_date: 2011-03-02T06:17:46Z [Term] id: HP:0011027 name: Abnormality of the fallopian tube def: "An abnormality of the fallopian tube." [HPO:probinson] comment: The Fallopian tubes (also known as oviducts, uterine tubes, and salpinges) are ducts that lead from the ovaries into the uterus. xref: UMLS:C0281842 is_a: HP:0000008 ! Abnormality of female internal genitalia created_by: peter creation_date: 2011-03-02T06:36:01Z [Term] id: HP:0011028 name: Abnormality of blood circulation def: "An abnormality of blood circulation." [HPO:probinson] synonym: "Blood circulation disorder" RELATED [] xref: UMLS:C4020760 xref: UMLS:C4023585 is_a: HP:0011025 ! Abnormal cardiovascular system physiology created_by: peter creation_date: 2011-03-03T10:25:21Z [Term] id: HP:0011029 name: Internal hemorrhage def: "The presence of hemorrhage within the body." [HPO:probinson] synonym: "Internal bleeding" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1390214 is_a: HP:0001892 ! Abnormal bleeding is_a: HP:0011028 ! Abnormality of blood circulation created_by: peter creation_date: 2011-03-03T10:26:26Z [Term] id: HP:0011030 name: Abnormal blood transition element cation concentration def: "An abnormality of the homeostasis (concentration) of transition element cation." [HPO:probinson] synonym: "Abnormality of transition element cation homeostasis" EXACT [] xref: UMLS:C4023584 is_a: HP:0010929 ! Abnormal blood cation concentration created_by: peter creation_date: 2011-03-04T07:59:31Z [Term] id: HP:0011031 name: Abnormality of iron homeostasis def: "An abnormality of the homeostasis (concentration) of iron cation." [HPO:probinson] xref: UMLS:C4023583 is_a: HP:0011030 ! Abnormal blood transition element cation concentration created_by: peter creation_date: 2011-03-04T08:01:07Z [Term] id: HP:0011032 name: Abnormality of fluid regulation def: "An abnormality of the regulation of body fluids." [HPO:probinson] synonym: "Abnormality of fluid regulation" EXACT layperson [] synonym: "Fluid imbalance" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:1860003 xref: SNOMEDCT_US:190902006 xref: UMLS:C2364164 is_a: HP:0012337 ! Abnormal homeostasis created_by: peter creation_date: 2011-03-05T09:09:27Z [Term] id: HP:0011033 name: Impairment of fructose metabolism def: "An impairment of a fructose metabolic process." [HPO:probinson] xref: UMLS:C4023581 is_a: HP:0032245 ! Abnormal metabolism created_by: peter creation_date: 2011-03-05T10:06:29Z [Term] id: HP:0011034 name: Amyloidosis def: "The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body." [HPO:probinson, pmid:21039326] comment: The medical literautre on amyloidosis is confused with clinical and histochemical designations used when the amyloid disease processes were poorly understood. To be designated an amyloid fibril protein, the protein must occur in tissue deposits and exhibit affinity for Congo red and green birefringence when viewed by polarisation microscopy. synonym: "Amyloid disease" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:D000686 xref: SNOMEDCT_US:17602002 xref: UMLS:C0002726 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis created_by: peter creation_date: 2011-03-06T10:56:39Z [Term] id: HP:0011035 name: Abnormal renal cortex morphology def: "An abnormality of the cortex of the kidney." [HPO:probinson] synonym: "Abnormality of renal cortex morphology" EXACT [] xref: UMLS:C4023580 is_a: HP:0012210 ! Abnormal renal morphology created_by: peter creation_date: 2011-03-06T11:31:39Z [Term] id: HP:0011036 name: Abnormality of renal excretion def: "An altered ability of the kidneys to void urine and/or specific substances." [HPO:probinson] xref: MP:0005555 xref: UMLS:C4023579 is_a: HP:0012211 ! Abnormal renal physiology created_by: peter creation_date: 2011-03-06T12:28:55Z [Term] id: HP:0011037 name: Decreased urine output def: "A decreased rate of urine production." [HPO:probinson] comment: A reduction in the overall amount of urine output. xref: UMLS:C3887784 is_a: HP:0012590 ! Abnormal urine output created_by: peter creation_date: 2011-03-06T12:33:12Z [Term] id: HP:0011038 name: Abnormality of renal resorption def: "An abnormality of renal absorption." [HPO:probinson] xref: UMLS:C4023578 is_a: HP:0012211 ! Abnormal renal physiology created_by: peter creation_date: 2011-03-06T12:38:04Z [Term] id: HP:0011039 name: Abnormality of the helix alt_id: HP:0000380 def: "An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe." [HPO:probinson] subset: hposlim_core synonym: "Abnormal helices" EXACT [] synonym: "Helix abnormal" EXACT [] xref: UMLS:C1856660 is_a: HP:0000377 ! Abnormality of the pinna created_by: peter creation_date: 2011-03-06T04:41:34Z [Term] id: HP:0011040 name: Abnormality of the intrahepatic bile duct def: "An abnormality of the intrahepatic bile duct." [HPO:probinson] xref: UMLS:C4023577 is_a: HP:0012440 ! Abnormal biliary tract morphology created_by: peter creation_date: 2011-03-07T07:54:11Z [Term] id: HP:0011041 name: Aplasia/Hypoplasia of the cervical spine def: "Aplasia or developmental hypoplasia of the cervical vertebral column." [HPO:probinson] synonym: "Absent/small cervical spine" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped cervical spine" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023576 is_a: HP:0003319 ! Abnormality of the cervical spine is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column created_by: peter creation_date: 2011-03-09T08:29:34Z [Term] id: HP:0011042 name: Abnormal blood potassium concentration def: "An abnormal concentration of potassium." [HPO:probinson] synonym: "Abnormal blood K concentration" EXACT HP:0045077 [] synonym: "Abnormality of potassium homeostasis" EXACT [] xref: UMLS:C4023575 is_a: HP:0010930 ! Abnormal blood monovalent inorganic cation concentration created_by: peter creation_date: 2011-03-09T11:00:32Z [Term] id: HP:0011043 name: Abnormality of circulating adrenocorticotropin level def: "An abnormal concentration of corticotropin in the blood." [HPO:probinson] comment: Adrenocorticotropic hormone (ACTH), also known as corticotropin, is a polypeptide hormone produced and secreted by the pituitary gland comprising 39 amino acid residues coupled in a linear sequence. . It is a component of the hypothalamic-pituitary-adrenal axis and stimulates increased production and release of corticosteroids and cortisol from the adrenal cortex. xref: UMLS:C4023574 is_a: HP:0003117 ! Abnormal circulating hormone level created_by: peter creation_date: 2011-03-10T07:46:59Z [Term] id: HP:0011044 name: Abnormal number of permanent teeth def: "The presence of an altered number of of permanent teeth." [HPO:ibailleulforestier] synonym: "Abnormal complement of permanent teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormal number of adult teeth" EXACT layperson [] synonym: "Abnormal number of permanent teeth" EXACT layperson [] synonym: "Abnormal number of secondary dentition" EXACT [] synonym: "Abnormal permanent tooth count" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023573 is_a: HP:0006483 ! Abnormal number of teeth created_by: peter creation_date: 2011-03-10T10:43:37Z [Term] id: HP:0011045 name: Agenesis of permanent maxillary central incisor def: "Agenesis of upper secondary incisor." [HPO:ibailleulforestier] comment: This feature is to be distinguished from single central upper incisor, which is median. synonym: "Absence of permanent maxillary central incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Absence of permanent upper central incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Absence of permanent upper front tooth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Agenesis of adult maxillary central incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of permanent maxillary central incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing adult upper central incisor" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Missing permanent maxillary central incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Missing permanent upper central incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Missing permanent upper front tooth" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023572 xref: UMLS:C4280358 xref: UMLS:C4280359 is_a: HP:0006293 ! Agenesis of maxillary central incisor created_by: peter creation_date: 2011-03-10T11:20:25Z [Term] id: HP:0011046 name: Agenesis of primary maxillary central incisor def: "Agenesis of upper central primary incisor." [HPO:ibailleulforestier] comment: This feature is to be distinguished from single central upper incisor, which is median. synonym: "Absence of deciduous maxillary central incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Absence of primary maxillary central incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Absence of upper front baby tooth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Agenesis of deciduous maxillary central incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of deciduous maxillary central incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of primary maxillary central incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing deciduous maxillary central incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Missing primary maxillary central incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Missing upper front baby tooth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Missing upper front milk tooth" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023571 xref: UMLS:C4280357 is_a: HP:0006293 ! Agenesis of maxillary central incisor created_by: peter creation_date: 2011-03-10T11:21:41Z [Term] id: HP:0011047 name: Agenesis of primary mandibular central incisor def: "Agenesis of lower primary incisor." [HPO:ibailleulforestier] synonym: "Absence of deciduous mandibular central incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Absence of primary mandibular central incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Agenesis of deciduous lower central incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Agenesis of primary lower central incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of deciduous mandibular central incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of primary mandibular central incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing deciduous mandibular central incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Missing lower central incisor milk tooth" RELATED [ORCID:0000-0001-5889-4463] synonym: "Missing lower front baby tooth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Missing lower front milk tooth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Missing lower front primary tooth" RELATED [ORCID:0000-0001-5889-4463] synonym: "Missing primary mandibular central incisor" RELATED [ORCID:0000-0001-5889-4463] xref: UMLS:C4023570 xref: UMLS:C4280355 xref: UMLS:C4280356 is_a: HP:0006355 ! Agenesis of mandibular central incisor created_by: peter creation_date: 2011-03-10T11:14:55Z [Term] id: HP:0011048 name: Agenesis of permanent mandibular central incisor def: "Agenesis of lower secondary incisor." [HPO:ibailleulforestier] synonym: "Absence of permanent lower central incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Absence of permanent lower front tooth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Absence of permanent mandibular central incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Agenesis of adult mandibular central incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of permanent mandibular central incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing adult lower central incisor" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Missing permanent lower central incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Missing permanent lower front tooth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Missing permanent mandibular central incisor" RELATED [ORCID:0000-0001-5889-4463] xref: UMLS:C4023569 xref: UMLS:C4280354 is_a: HP:0006355 ! Agenesis of mandibular central incisor created_by: peter creation_date: 2011-03-10T11:16:08Z [Term] id: HP:0011049 name: Agenesis of primary maxillary lateral incisor def: "Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor." [HPO:ibailleulforestier] synonym: "Absence of deciduous maxillary lateral incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Absence of primary maxillary lateral incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Agenesis of deciduous maxillary lateral incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of deciduous maxillary lateral incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of primary maxillary lateral incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing deciduous maxillary lateral incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Missing primary maxillary lateral incisor" RELATED [ORCID:0000-0001-5889-4463] xref: UMLS:C4023568 xref: UMLS:C4280353 is_a: HP:0000690 ! Agenesis of maxillary lateral incisor created_by: peter creation_date: 2011-03-10T11:31:10Z [Term] id: HP:0011050 name: Agenesis of permanent maxillary lateral incisor def: "Agenesis of one or more upper lateral secondary incisor." [HPO:ibailleulforestier] synonym: "Absence of permanent maxillary lateral incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Agenesis of permanent upper lateral incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of permanent maxillary lateral incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of permanent upper lateral incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing permanent maxillary lateral incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Missing permanent upper lateral incisor" RELATED [ORCID:0000-0001-5889-4463] xref: UMLS:C4023567 xref: UMLS:C4280352 is_a: HP:0000690 ! Agenesis of maxillary lateral incisor created_by: peter creation_date: 2011-03-10T11:32:17Z [Term] id: HP:0011051 name: Agenesis of premolar def: "Agenesis of premolar tooth." [HPO:ibailleulforestier] comment: Note that premolar teeth occur only in the permanent dentition. synonym: "Absence of bicuspid" RELATED [ORCID:0000-0001-5889-4463] synonym: "Absence of premolar" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Agenesis of bicuspid" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of bicuspid" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of premolar" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing bicuspid" RELATED [ORCID:0000-0001-5889-4463] synonym: "Missing premolar" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023566 xref: UMLS:C4280351 is_a: HP:0001592 ! Selective tooth agenesis is_a: HP:0011076 ! Abnormality of premolar created_by: peter creation_date: 2011-03-10T11:36:44Z [Term] id: HP:0011052 name: Agenesis of maxillary premolar def: "Agenesis of maxillary premolar." [HPO:ibailleulforestier] comment: Note that premolar teeth occur only in the permanent dentition. synonym: "Absence of maxillary bicuspid" RELATED [ORCID:0000-0001-5889-4463] synonym: "Absence of maxillary premolar" RELATED [ORCID:0000-0001-5889-4463] synonym: "Absence of upper premolar" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Agenesis of maxillary bicuspid" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of maxillary bicuspid" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of maxillary premolar" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing maxillary premolar" RELATED [ORCID:0000-0001-5889-4463] synonym: "Missing upper bicuspid" RELATED [ORCID:0000-0001-5889-4463] synonym: "Missing upper premolar" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023565 xref: UMLS:C4280350 is_a: HP:0011051 ! Agenesis of premolar created_by: peter creation_date: 2011-03-10T11:39:06Z [Term] id: HP:0011053 name: Agenesis of mandibular premolar def: "Agenesis of mandibular premolar." [HPO:ibailleulforestier] synonym: "Absence of lower premolar" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Absence of mandibular premolar" RELATED [ORCID:0000-0001-5889-4463] synonym: "Failure of development of mandibular premolar" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing lower premolar" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Missing mandibular premolar" RELATED [ORCID:0000-0001-5889-4463] xref: UMLS:C4023564 xref: UMLS:C4280349 is_a: HP:0011051 ! Agenesis of premolar created_by: peter creation_date: 2011-03-10T11:40:37Z [Term] id: HP:0011054 name: Agenesis of molar def: "Agenesis of molar tooth." [HPO:ibailleulforestier] synonym: "Absence of molar" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Absent molars" EXACT layperson [] synonym: "Failure of development of molar" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing molar" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021203 xref: UMLS:C4280348 is_a: HP:0001592 ! Selective tooth agenesis is_a: HP:0011077 ! Abnormality of molar created_by: peter creation_date: 2011-03-10T11:41:46Z [Term] id: HP:0011055 name: Agenesis of permanent molar def: "Agenesis of secondary molar tooth." [HPO:ibailleulforestier] synonym: "Absence of adult molar" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Absence of permanent molar" RELATED [ORCID:0000-0001-5889-4463] synonym: "Agenesis of secondary molar" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of permanent molar" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of secondary molar" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing adult molar" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Missing permanent molar" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023563 xref: UMLS:C4280347 is_a: HP:0011054 ! Agenesis of molar created_by: peter creation_date: 2011-03-10T11:44:27Z [Term] id: HP:0011056 name: Agenesis of first permanent molar tooth def: "Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both." [HPO:ibailleulforestier] synonym: "Absence of first permanent molar" RELATED [ORCID:0000-0001-5889-4463] synonym: "Absence of six year molar" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Agenesis of six year molar" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of first permanent molar" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of six year molar" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing first permanent molar" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Missing six year molar" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023562 xref: UMLS:C4280346 is_a: HP:0011055 ! Agenesis of permanent molar created_by: peter creation_date: 2011-03-10T11:45:27Z [Term] id: HP:0011057 name: Agenesis of second permanent molar def: "Agenesis of either mandibular second permanent molar or maxillary second permanent molar." [HPO:ibailleulforestier] synonym: "Absence of second permanent molar" RELATED [ORCID:0000-0001-5889-4463] synonym: "Absence of twelve year molar" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Agenesis of twelve year molar" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of second permanent molar" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of twelve year molar" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing second permanent molar" RELATED [ORCID:0000-0001-5889-4463] synonym: "Missing twelve year molar" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023561 xref: UMLS:C4280257 is_a: HP:0011055 ! Agenesis of permanent molar created_by: peter creation_date: 2011-03-10T11:47:58Z [Term] id: HP:0011058 name: Generalized periodontitis def: "A generalized form of periodontitis." [HPO:ibailleulforestier] synonym: "Generalized gum disease" BROAD [ORCID:0000-0001-5889-4463] synonym: "Generalized periodontal disease" EXACT [ORCID:0000-0001-5889-4463] synonym: "Widespread gum disease" BROAD layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023560 xref: UMLS:C4280345 is_a: HP:0000704 ! Periodontitis created_by: peter creation_date: 2011-03-10T12:23:22Z [Term] id: HP:0011059 name: Localized periodontitis def: "A localized form of periodontitis." [HPO:ibailleulforestier] synonym: "Limited area of gum disease" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Localized gum disease" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Localized periodontal disease" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023559 xref: UMLS:C4280344 is_a: HP:0000704 ! Periodontitis created_by: peter creation_date: 2011-03-10T12:26:35Z [Term] id: HP:0011060 name: Dentinogenesis imperfecta limited to primary teeth def: "Developmental dysplasia of dentin affecting only the primary dentition." [HPO:ibailleulforestier] synonym: "Dentin dysplasia" RELATED [] synonym: "Dentinogenesis imperfecta of baby teeth" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:D003805 xref: SNOMEDCT_US:109492001 xref: UMLS:C0011430 xref: UMLS:C4023558 is_a: HP:0000703 ! Dentinogenesis imperfecta created_by: peter creation_date: 2011-03-11T12:26:32Z [Term] id: HP:0011061 name: Abnormality of dental structure def: "An abnormality of the structure or composition of the teeth." [HPO:ibailleulforestier] synonym: "Abnormality of tooth part" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of tooth structure" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023557 is_a: HP:0000164 ! Abnormality of the dentition created_by: peter creation_date: 2011-03-10T01:44:04Z [Term] id: HP:0011062 name: Misalignment of incisors def: "Misaligned incisor." [HPO:ibailleulforestier] synonym: "Abnormality of alignment of incisors" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of position of incisors" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Crooked front teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Crooked incisors" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Malposition of incisors" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Misalignment of incisors" EXACT layperson [] xref: UMLS:C4023556 xref: UMLS:C4280343 is_a: HP:0000676 ! Abnormality of the incisor is_a: HP:0000692 ! Misalignment of teeth created_by: peter creation_date: 2011-03-10T01:57:43Z [Term] id: HP:0011063 name: Abnormality of incisor morphology def: "An abnormality of morphology of the incisor tooth." [HPO:ibailleulforestier] synonym: "Abnormality of shape of incisor" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023555 is_a: HP:0000676 ! Abnormality of the incisor is_a: HP:0006482 ! Abnormality of dental morphology created_by: peter creation_date: 2011-03-10T02:06:54Z [Term] id: HP:0011064 name: Abnormal number of incisors def: "The presence of an altered number of the incisor teeth." [HPO:ibailleulforestier] synonym: "Abnormal number of front teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormal number of incisors" EXACT layperson [] xref: UMLS:C4023554 is_a: HP:0000676 ! Abnormality of the incisor is_a: HP:0006483 ! Abnormal number of teeth created_by: peter creation_date: 2011-03-10T02:09:16Z [Term] id: HP:0011065 name: Conical incisor alt_id: HP:0000673 alt_id: HP:0006345 alt_id: HP:0011066 def: "An abnormal conical morphology of the incisor tooth." [HPO:ibailleulforestier] comment: Conical incisors are incisors that are round in cross-sectional views of the crown or that have a rounded appearance. Conical incisors may have a pointed shape that tapers to a point at the tip of the tooth. One speaks of conical incisor for a conical shaped tooth that is located in the region where incisors normally are. synonym: "Cone shaped front tooth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Conoid incisor" EXACT [] synonym: "Peg shaped front tooth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Peg shaped incisors" EXACT [] synonym: "Peg-shaped incisors" EXACT [] synonym: "Pointed front tooth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Pointed incisor" RELATED [] synonym: "Shark tooth incisor" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1856136 xref: UMLS:C4020759 xref: UMLS:C4280341 xref: UMLS:C4280342 is_a: HP:0000698 ! Conical tooth is_a: HP:0011063 ! Abnormality of incisor morphology created_by: peter creation_date: 2011-03-10T02:14:34Z [Term] id: HP:0011067 name: Mesiodens def: "The presence of a supernumerary tooth in the midline between the maxillary central incisors." [HPO:ibailleulforestier, pmid:18262485] comment: A mesiodens is not a supernumerary incisor (i.e., it does not have the morphology of an incisor). Rather, it is a conoid, extra tooth located between the maxillary central incisors. synonym: "Extra tooth" BROAD layperson [] synonym: "Extra tooth in the midline" BROAD [ORCID:0000-0001-5889-4463] synonym: "Median supernumary tooth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Mesiodentes" NARROW [ORCID:0000-0001-5889-4463] synonym: "Midline supernumary tooth" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:D014096 xref: SNOMEDCT_US:17802000 xref: SNOMEDCT_US:266414008 xref: SNOMEDCT_US:367534004 xref: SNOMEDCT_US:8666004 xref: UMLS:C0040457 xref: UMLS:C0266030 xref: UMLS:C4280340 is_a: HP:0011069 ! Increased number of teeth created_by: peter creation_date: 2011-03-10T02:38:59Z [Term] id: HP:0011068 name: Odontoma def: "The presence of an odontoma." [HPO:ibailleulforestier] comment: MPATH defines odontoma as a hamartomatous malformation of odontogenic tissue. It may vary from nondescript masses of dental tissue (complex odontoma) to multiple well-formed teeth (compound odontoma). synonym: "Odontomas" RELATED [HPO:skoehler] xref: MSH:D009810 xref: SNOMEDCT_US:79074005 xref: UMLS:C0028882 is_a: HP:0010566 ! Hamartoma is_a: HP:0100612 ! Odontogenic neoplasm created_by: peter creation_date: 2011-03-10T02:40:52Z [Term] id: HP:0011069 name: Increased number of teeth alt_id: HP:0000672 def: "The presence of a supernumerary, i.e., extra, tooth or teeth." [HPO:ibailleulforestier] comment: The most frequent supernumerary tooth is a mesiodens, which occurs between the two maxillary central incisors. Often it fails to erupt, but creates a large anterior diastema, and would not be detected on physical examination (requires X-ray evaluation). This designation excludes coexistence of primary and permanent dentition due to delayed loss of the former. Note that this term does not refer to the situation in which two rows of teeth are seen at the time of eruption of permanent dentition before exfoliation of primary teeth, which can be a normal finding. subset: hposlim_core synonym: "Extra teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Hyperdontia" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased number of teeth" EXACT layperson [] synonym: "Increased tooth count" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "More teeth than normal" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Supernumary dentition" NARROW [ORCID:0000-0001-5889-4463] synonym: "Supernumary teeth" NARROW [ORCID:0000-0001-5889-4463] synonym: "Supernumerary teeth" EXACT [] synonym: "Supernumerary tooth" EXACT [] synonym: "Supplemental dentition" EXACT [ORCID:0000-0001-5889-4463] synonym: "Supplemental teeth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D014096 xref: SNOMEDCT_US:266414008 xref: SNOMEDCT_US:367534004 xref: SNOMEDCT_US:8666004 xref: UMLS:C0040457 is_a: HP:0006483 ! Abnormal number of teeth created_by: peter creation_date: 2011-03-10T02:52:19Z [Term] id: HP:0011070 name: Abnormality of molar morphology def: "An abnormality of morphology of molar tooth." [HPO:ibailleulforestier] synonym: "Abnormal shape of molar tooth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023553 is_a: HP:0006482 ! Abnormality of dental morphology is_a: HP:0011077 ! Abnormality of molar created_by: peter creation_date: 2011-03-10T03:45:51Z [Term] id: HP:0011071 name: Abnormality of permanent molar morphology def: "An abnormality of morphology of permanent molar." [HPO:ibailleulforestier] synonym: "Abnormality of shape of adult molar" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of shape of permanent molar" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023552 is_a: HP:0011070 ! Abnormality of molar morphology created_by: peter creation_date: 2011-03-10T03:48:43Z [Term] id: HP:0011072 name: Rootless teeth synonym: "Absence of tooth root" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Agenesis of tooth root" EXACT [ORCID:0000-0001-5889-4463] synonym: "Aplasia of tooth root" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing tooth root" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Rootless teeth" EXACT layperson [] synonym: "Teeth without roots" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Tooth with dentin dysplasia type i" RELATED [ORCID:0000-0001-5889-4463] xref: MSH:C538215 xref: SNOMEDCT_US:109493006 xref: UMLS:C0399379 xref: UMLS:C4082200 is_a: HP:0006486 ! Abnormality of the dental root created_by: peter creation_date: 2011-03-10T03:56:41Z [Term] id: HP:0011073 name: Abnormality of dental color def: "A developmental defect of tooth color." [HPO:ibailleulforestier] synonym: "Abnormality of dental color" EXACT layperson [] synonym: "Abnormality of dental shade" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of tooth color" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of tooth shade" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023551 is_a: HP:0011061 ! Abnormality of dental structure created_by: peter creation_date: 2011-03-10T05:20:03Z [Term] id: HP:0011074 name: Localized hypoplasia of dental enamel def: "A localized form of developmental hypoplasia of the dental enamel." [HPO:ibailleulforestier] synonym: "Localized dysplasia of tooth enamel" RELATED [ORCID:0000-0001-5889-4463] synonym: "Localized hypoplasia of tooth enamel" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023550 xref: UMLS:C4280339 is_a: HP:0006297 ! Hypoplasia of dental enamel created_by: peter creation_date: 2011-03-10T05:13:09Z [Term] id: HP:0011075 name: Green teeth def: "A green staining of teeth." [pmid:12686928] comment: Green teeth are a rare finding in children with neonatal hyperbilirubinaemia due to blood group incompatibility, sepsis-induced cholestasis or biliary atresia. Rarely, green staining of the teeth may be seen with cholestasis and sepsis. synonym: "Green colored teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Green teeth" EXACT layperson [] synonym: "Green tooth shade" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023549 is_a: HP:0011073 ! Abnormality of dental color created_by: peter creation_date: 2011-03-10T05:23:18Z [Term] id: HP:0011076 name: Abnormality of premolar def: "An abnormality of premolar tooth." [HPO:ibailleulforestier] synonym: "Abnormality of bicuspid" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of premolar" EXACT layperson [] xref: UMLS:C4023548 is_a: HP:0000164 ! Abnormality of the dentition created_by: peter creation_date: 2011-03-11T09:56:17Z [Term] id: HP:0011077 name: Abnormality of molar def: "An abnormality of molar tooth." [HPO:ibailleulforestier] synonym: "Abnormality of molar" EXACT layperson [] xref: UMLS:C4023547 is_a: HP:0000164 ! Abnormality of the dentition created_by: peter creation_date: 2011-03-11T09:57:49Z [Term] id: HP:0011078 name: Abnormality of canine def: "An abnormality of canine tooth." [HPO:ibailleulforestier] synonym: "Abnormality of canine" EXACT layperson [] synonym: "Abnormality of eye tooth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023546 is_a: HP:0000164 ! Abnormality of the dentition created_by: peter creation_date: 2011-03-11T09:58:41Z [Term] id: HP:0011079 name: Impacted tooth def: "A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth)." [HPO:ibailleulforestier] subset: hposlim_core synonym: "Buried tooth" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Impacted tooth" EXACT layperson [] synonym: "Retained tooth" EXACT [] xref: MSH:D014095 xref: SNOMEDCT_US:129263008 xref: SNOMEDCT_US:235104008 xref: UMLS:C0040456 xref: UMLS:C4280338 is_a: HP:0000706 ! Unerupted tooth created_by: peter creation_date: 2011-03-11T10:18:55Z [Term] id: HP:0011080 name: Abnormality of premolar morphology def: "An abnormality of morphology of premolar tooth." [HPO:ibailleulforestier] synonym: "Abnormality of bicuspid morphology" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of shape of bicuspid" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of shape of premolar" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023545 is_a: HP:0006482 ! Abnormality of dental morphology is_a: HP:0011076 ! Abnormality of premolar created_by: peter creation_date: 2011-03-11T10:33:42Z [Term] id: HP:0011081 name: Incisor macrodontia def: "Increased size of the incisor tooth." [HPO:ibailleulforestier] synonym: "Hyperplasia of incisor" BROAD [ORCID:0000-0001-5889-4463] synonym: "Hypertrophy of incisor" BROAD [ORCID:0000-0001-5889-4463] synonym: "Increased size of incisor" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Increased width of incisor" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Large incisor" BROAD layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023544 xref: UMLS:C4280337 is_a: HP:0001572 ! Macrodontia is_a: HP:0011063 ! Abnormality of incisor morphology created_by: peter creation_date: 2011-03-11T10:39:44Z [Term] id: HP:0011082 name: Conical primary incisor def: "An abnormal conical morphology of the primary incisor." [HPO:ibailleulforestier] synonym: "Cone shaped front baby tooth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Conical deciduous incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Conoid primary incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Peg shaped front baby tooth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Peg shaped primary incisor" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Pointed front baby tooth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Pointed primary incisor" RELATED layperson [] synonym: "Primary front shark tooth" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023543 is_a: HP:0011065 ! Conical incisor created_by: peter creation_date: 2011-03-11T11:06:57Z [Term] id: HP:0011083 name: Conical maxillary incisor def: "An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both." [HPO:ibailleulforestier] synonym: "Cone shaped maxillary incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Cone shaped upper front tooth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Conoid maxillary incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Peg shaped upper front tooth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Pointed maxillary incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Pointed upper front tooth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Upper front shark tooth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023542 is_a: HP:0011065 ! Conical incisor created_by: peter creation_date: 2011-03-11T11:36:11Z [Term] id: HP:0011084 name: Hypocalcification of dental enamel def: "A form of hypomineralization of enamel characterized by reduced calcification." [pmid:18499550] synonym: "Decreased enamel calcification" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Poorly calcified tooth enamel" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023541 is_a: HP:0006285 ! Hypomineralization of enamel created_by: peter creation_date: 2011-03-11T12:08:46Z [Term] id: HP:0011085 name: Hypomature dental enamel def: "A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color." [HPO:ibailleulforestier] comment: Radiographically there is normal thickness of enamel and the enamel is slightly more radiolucent than dentin. synonym: "Immature tooth enamel" EXACT [ORCID:0000-0001-5889-4463] synonym: "Soft teeth" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Soft tooth enamel" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023540 xref: UMLS:C4280266 xref: UMLS:C4280336 is_a: HP:0006285 ! Hypomineralization of enamel created_by: peter creation_date: 2011-03-11T12:10:33Z [Term] id: HP:0011086 name: Dentinogenesis imperfecta of primary and permanent teeth def: "Developmental dysplasia of dentin or both the primary dentition and the permanent dentition." [HPO:ibailleulforestier] synonym: "Dentinogenesis imperfecta of adult and baby teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Dentinogenesis imperfecta of both sets of teeth" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023539 is_a: HP:0000703 ! Dentinogenesis imperfecta created_by: peter creation_date: 2011-03-11T12:28:37Z [Term] id: HP:0011087 name: Talon cusp def: "Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown)." [HPO:ibailleulforestier] subset: hposlim_core synonym: "Dens evaginatus" EXACT [ORCID:0000-0001-5889-4463] synonym: "Extra cusp on inside of front tooth" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Talon cusps" EXACT [HPO:skoehler] xref: SNOMEDCT_US:234955005 xref: SNOMEDCT_US:63691004 xref: UMLS:C0266034 xref: UMLS:C0399357 xref: UMLS:C4280335 is_a: HP:0011063 ! Abnormality of incisor morphology created_by: peter creation_date: 2011-03-11T02:00:28Z [Term] id: HP:0011088 name: Dens in dente def: "An abnormality of the incisor characterized by invagination of the enamel, giving a radiographic appearance that suggests a tooth within a tooth." [HPO:ibailleulforestier] comment: Dens in dente is Latin for tooth inside of tooth. synonym: "Dens invaginatus" EXACT [ORCID:0000-0001-5889-4463] synonym: "Tooth within a tooth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D003719 xref: SNOMEDCT_US:55197001 xref: UMLS:C0011320 is_a: HP:0011063 ! Abnormality of incisor morphology created_by: peter creation_date: 2011-03-11T02:07:28Z [Term] id: HP:0011089 name: Double tooth def: "A dental anomaly characterized by the presence of a two fused teeth." [HPO:ibailleulforestier] synonym: "Conjoined teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Double tooth" EXACT layperson [] xref: MSH:D005671 xref: SNOMEDCT_US:1744008 xref: UMLS:C0016873 is_a: HP:0006482 ! Abnormality of dental morphology created_by: peter creation_date: 2011-03-11T02:13:26Z [Term] id: HP:0011090 name: Fused teeth def: "The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch." [pmid:18167487] subset: hposlim_core synonym: "Fused teeth" EXACT layperson [] synonym: "Fusion of teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Joined teeth" EXACT layperson [] xref: MSH:D005671 xref: SNOMEDCT_US:1744008 xref: UMLS:C0016873 is_a: HP:0011089 ! Double tooth created_by: peter creation_date: 2011-03-11T02:17:04Z [Term] id: HP:0011091 name: Gemination def: "The development of two teeth from a single tooth bud, leading to a larger fused tooth." [pmid:18167487] comment: If the fused tooth is counted singly, then the total number of teeth is normal with gemination. Usually, there is a larger dental crown with a single root and single canal. synonym: "Gemination of tooth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Splitting of crown of tooth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:40273006 xref: UMLS:C0266033 is_a: HP:0011089 ! Double tooth created_by: peter creation_date: 2011-03-11T02:19:11Z [Term] id: HP:0011092 name: Mulberry molar def: "Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry." [HPO:19179952] synonym: "Syphilitic permanent first molar" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:109436001 xref: UMLS:C0266024 is_a: HP:0011070 ! Abnormality of molar morphology created_by: peter creation_date: 2011-03-11T02:25:56Z [Term] id: HP:0011093 name: Molarization of premolar def: "Increased size and molar morphology of premolar tooth." [HPO:ibailleulforestier, pmid:15587104] synonym: "Enlarged premolar" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Increased size of premolar" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Molar shape of bicuspid" EXACT [ORCID:0000-0001-5889-4463] synonym: "Molar shape of premolar" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Molarization of bicuspid" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1404304 xref: UMLS:C4280334 is_a: HP:0011080 ! Abnormality of premolar morphology created_by: peter creation_date: 2011-03-11T02:32:39Z [Term] id: HP:0011094 name: Overbite def: "Maxillary teeth cover the mandibular teeth when biting to an increased degree." [HPO:ibailleulforestier] synonym: "Deep bite" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Deep overbite" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Increased overlap of upper and lower incisors" EXACT [ORCID:0000-0001-5889-4463] synonym: "Overbite" EXACT layperson [] synonym: "Scissors bite" NARROW layperson [ORCID:0000-0001-5889-4463] xref: MSH:D057887 xref: SNOMEDCT_US:10816007 xref: SNOMEDCT_US:251293001 xref: SNOMEDCT_US:60476005 xref: SNOMEDCT_US:63783001 xref: UMLS:C0266063 xref: UMLS:C0266067 xref: UMLS:C1305740 is_a: HP:0000692 ! Misalignment of teeth created_by: peter creation_date: 2011-03-11T05:13:34Z [Term] id: HP:0011095 name: Overjet def: "An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure." [HPO:ibailleulforestier] synonym: "Abnormality of horizontal incisor relationship" EXACT [ORCID:0000-0001-5889-4463] synonym: "Buck teeth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Protrusion of the maxillary incisors" RELATED [ORCID:0000-0001-5889-4463] synonym: "Protrusion of upper teeth in front of lower teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Upper teeth sticking out forward" RELATED layperson [ORCID:0000-0001-5889-4463] xref: MSH:D057887 xref: SNOMEDCT_US:251292006 xref: SNOMEDCT_US:70305005 xref: UMLS:C0596028 is_a: HP:0000692 ! Misalignment of teeth created_by: peter creation_date: 2011-03-11T05:15:43Z [Term] id: HP:0011096 name: Peripheral demyelination alt_id: HP:0003381 alt_id: HP:0006939 alt_id: HP:0007282 def: "A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system." [HPO:probinson] comment: This feature is generally diagnosed on the basis of a sural nerve biopsy. Demyelination is associated with slowed nerve conduction, increased refractoriness, and conduction block. synonym: "Demyelination" EXACT [] xref: UMLS:C0878575 is_a: HP:0003130 ! Abnormal peripheral myelination created_by: peter creation_date: 2011-03-28T09:01:02Z [Term] id: HP:0011097 name: Epileptic spasms def: "A sudden flexion, extension or mixed extension-flexion of predominantly proximal and truncal muscles which is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure." [HPO:jalbers] comment: The maximum age of onset is between 3 and 12 months, the peak being at 6 months. However, spasms may start from birth, or appear long after the age of 12 months, including into adulthood. Infantile spasms represent a specific type of seizure seen in an epilepsy syndrome of infancy and childhood known as West Syndrome. West Syndrome is characterized by infantile spasms, developmental regression, and hypsarrhythmia (as demonstrated by electroencephalography). synonym: "Salaam convulsions" EXACT [] synonym: "Salaam seizures" EXACT [] synonym: "West syndrome" RELATED [] xref: MSH:D013036 xref: SNOMEDCT_US:28055006 xref: UMLS:C0037769 xref: UMLS:C1527366 is_a: HP:0001250 ! Seizures created_by: peter creation_date: 2011-05-04T01:56:31Z [Term] id: HP:0011098 name: Speech apraxia def: "A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur." [HPO:probinson] comment: Speech apraxia may co-occur with oral apraxia and limb apraxia. synonym: "Apraxia of speech" EXACT [] synonym: "Verbal dyspraxia" EXACT [] xref: MSH:D001072 xref: SNOMEDCT_US:361276003 xref: SNOMEDCT_US:361277007 xref: SNOMEDCT_US:74227009 xref: UMLS:C0264611 xref: UMLS:C0349391 is_a: HP:0002186 ! Apraxia created_by: peter creation_date: 2011-05-15T08:57:11Z [Term] id: HP:0011099 name: Spastic hemiparesis def: "Unilateral paresis (weakness) with spasticity of the affected muscles and increased tendon reflexes." [HPO:probinson] synonym: "Spastic hemiplegia" EXACT [] xref: MSH:D006429 xref: SNOMEDCT_US:79633009 xref: UMLS:C0154694 is_a: HP:0001257 ! Spasticity created_by: peter creation_date: 2011-06-04T09:10:40Z [Term] id: HP:0011100 name: Intestinal atresia def: "An abnormal closure, or atresia of the tubular structure of the intestine." [HPO:probinson] comment: Intestinal atresia is a broad term used to describe a complete blockage or obstruction anywhere in the intestine, in contrast to stenosis, which refers to a partial obstruction that results in a narrowing of the intestinal lumen. xref: MSH:D007409 xref: UMLS:C0021828 is_a: HP:0002242 ! Abnormal intestine morphology is_a: HP:0002589 ! Gastrointestinal atresia created_by: peter creation_date: 2011-06-04T09:16:25Z [Term] id: HP:0011102 name: Ileal atresia def: "An abnormal closure, or atresia of the tubular structure of the ileum." [HPO:probinson] xref: SNOMEDCT_US:25896009 xref: UMLS:C0266176 is_a: HP:0001549 ! Abnormal ileum morphology is_a: HP:0011100 ! Intestinal atresia created_by: peter creation_date: 2011-06-04T09:22:34Z [Term] id: HP:0011103 name: Abnormal left ventricular outflow tract morphology def: "An abnormality of the outflow tract of the left ventricle." [HPO:probinson] synonym: "Abnormality of the left ventricular outflow tract" EXACT [] xref: SNOMEDCT_US:253545000 xref: UMLS:C0344916 is_a: HP:0001711 ! Abnormal left ventricle morphology created_by: peter creation_date: 2011-06-05T04:15:50Z [Term] id: HP:0011104 name: Abnormality of blood volume homeostasis def: "An abnormality in the amount of volume occupied by intravascular blood." [HPO:probinson] xref: UMLS:C4023537 is_a: HP:0011028 ! Abnormality of blood circulation created_by: peter creation_date: 2011-06-07T11:16:33Z [Term] id: HP:0011105 name: Hypervolemia def: "An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood." [HPO:probinson] synonym: "Fluid overload in blood" EXACT layperson [https://en.wikipedia.org/wiki/hypervolemia, ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:21639008 xref: UMLS:C0546817 is_a: HP:0011104 ! Abnormality of blood volume homeostasis created_by: peter creation_date: 2011-06-07T11:17:32Z [Term] id: HP:0011106 name: Hypovolemia def: "An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood." [HPO:probinson] synonym: "Depleted blood volume" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D020896 xref: SNOMEDCT_US:28560003 xref: UMLS:C0546884 is_a: HP:0011104 ! Abnormality of blood volume homeostasis created_by: peter creation_date: 2011-06-07T11:18:54Z [Term] id: HP:0011107 name: Recurrent aphthous stomatitis def: "Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border." [HPO:probinson] comment: Recurrent aphthous stomatitis can be classified into three forms, with minor ulcers (over 80% of RAS cases) being less than 1 cm in diameter and self-limiting; major ulcers being over 1 cm in diameter with potential scar formation; and herpetiform ulcers manifesting as recurrent episodes with multiple small ulcers throughout the oral mucosa. synonym: "Aphthous stomatitis" RELATED [] synonym: "Buccal aphthous ulcers" RELATED [] synonym: "Recurrent aphthous ulcers" RELATED [] synonym: "Recurrent canker sores" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:D013281 xref: SNOMEDCT_US:110426005 xref: SNOMEDCT_US:398870000 xref: SNOMEDCT_US:426965005 xref: SNOMEDCT_US:427617000 xref: UMLS:C0038363 xref: UMLS:C2937365 is_a: HP:0010280 ! Stomatitis is_a: HP:0032154 ! Aphthous ulcer created_by: peter creation_date: 2011-06-08T07:11:09Z [Term] id: HP:0011108 name: Recurrent sinusitis def: "A recurrent form of sinusitis." [HPO:probinson] comment: Recurring inflammation of the paranasal sinuses. synonym: "Recurrent sinus disease" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Sinusitis, recurrent" EXACT [HPO:skoehler] xref: SNOMEDCT_US:195788001 xref: UMLS:C0581354 xref: UMLS:C4280333 is_a: HP:0000246 ! Sinusitis is_a: HP:0002788 ! Recurrent upper respiratory tract infections created_by: peter creation_date: 2011-06-10T07:31:22Z [Term] id: HP:0011109 name: Chronic sinusitis def: "A chronic form of sinusitis." [HPO:probinson] synonym: "Chronic sinus disease" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Sinusitis, chronic" RELATED [HPO:skoehler] xref: SNOMEDCT_US:40055000 xref: UMLS:C0149516 xref: UMLS:C0748720 is_a: HP:0000246 ! Sinusitis created_by: peter creation_date: 2011-06-10T07:33:14Z [Term] id: HP:0011110 name: Tonsillitis def: "An inflammation of the tonsils." [HPO:probinson] synonym: "Inflammation of tonsils" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D014069 xref: SNOMEDCT_US:90176007 xref: UMLS:C0040425 is_a: HP:0100765 ! Abnormality of the tonsils created_by: peter creation_date: 2011-06-10T07:46:38Z [Term] id: HP:0011111 name: Abnormality of immune serum protein physiology def: "An abnormality of the concentration or function of circulating immune proteins." [HPO:probinson] xref: UMLS:C4023536 is_a: HP:0010978 ! Abnormality of immune system physiology created_by: peter creation_date: 2011-06-12T08:58:47Z [Term] id: HP:0011112 name: Abnormality of serum cytokine level def: "Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells." [HPO:probinson] xref: MP:0010210 xref: UMLS:C4023535 is_a: HP:0011111 ! Abnormality of immune serum protein physiology created_by: peter creation_date: 2011-06-12T09:03:40Z [Term] id: HP:0011113 name: Abnormality of cytokine secretion def: "An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells)." [HPO:probinson] xref: MP:0003009 xref: UMLS:C4023534 is_a: HP:0011111 ! Abnormality of immune serum protein physiology created_by: peter creation_date: 2011-06-12T09:07:24Z [Term] id: HP:0011114 name: Defective production of NFKB1-dependent cytokines def: "An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha." [HPO:probinson] xref: UMLS:C4023533 is_a: HP:0011113 ! Abnormality of cytokine secretion created_by: peter creation_date: 2011-06-12T09:12:15Z [Term] id: HP:0011115 name: Abnormality of chemokine secretion def: "An abnormality in the production or cellular release of a chemokine (a class of cytokines)." [] xref: UMLS:C4023532 is_a: HP:0011113 ! Abnormality of cytokine secretion created_by: peter creation_date: 2011-06-12T09:14:25Z [Term] id: HP:0011116 name: Abnormality of interferon secretion def: "An abnormality in the production or cellular release of interferons (a class of cytokines)." [] xref: UMLS:C4023531 is_a: HP:0011113 ! Abnormality of cytokine secretion created_by: peter creation_date: 2011-06-12T09:14:43Z [Term] id: HP:0011117 name: Abnormality of interleukin secretion def: "An abnormality in the production or cellular release of interleukins (a class of cytokines)." [] synonym: "Abnormality of IL secretion" EXACT HP:0045077 [] xref: UMLS:C4023530 is_a: HP:0011113 ! Abnormality of cytokine secretion created_by: peter creation_date: 2011-06-12T09:16:10Z [Term] id: HP:0011118 name: Abnormality of tumor necrosis factor secretion def: "An abnormality in the production or cellular release of tumor necrosis factor." [] synonym: "Abnormality of cachectin secretion" EXACT [https://en.wikipedia.org/wiki/tumor_necrosis_factor_alpha, ORCID:0000-0001-6908-9849] synonym: "Abnormality of cachexin secretion" EXACT [https://en.wikipedia.org/wiki/tumor_necrosis_factor_alpha, ORCID:0000-0001-6908-9849] xref: MP:0008556 xref: UMLS:C4023529 is_a: HP:0011113 ! Abnormality of cytokine secretion created_by: peter creation_date: 2011-06-12T09:16:58Z [Term] id: HP:0011119 name: Abnormality of the nasal dorsum def: "An abnormality of the nasal dorsum, also known as the nasal ridge." [HPO:probinson, pmid:19152422] comment: The nasal ridge is the midline prominence of the nose, extending from the nasal root to the tip. synonym: "Abnormal morphology of dorsum of nose" NARROW [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the dorsum of nose" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the nasal ridge" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Anomaly of the nasal ridge" EXACT [] synonym: "Crooked dorsum of nose" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Crooked nasal dorsum" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Crooked nasal ridge" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Deformity of the dorsum of the nose" NARROW [ORCID:0000-0001-5889-4463] synonym: "Deformity of the nasal dorsum" NARROW [ORCID:0000-0001-5889-4463] synonym: "Deformity of the nasal ridge" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of the dorsum of nose" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of the nasal dorsum" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of the nasal ridge" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021202 xref: UMLS:C4280332 is_a: HP:0010938 ! Abnormality of the external nose created_by: peter creation_date: 2011-06-12T09:37:47Z [Term] id: HP:0011120 name: Concave nasal ridge def: "Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip." [HPO:probinson, pmid:19152422] comment: A saddle-nose deformity can be congenital or acquired (e.g., traumatic) and is associated with structural compromise of the nasoseptal cartilage leading to decreased dorsal nasal structural support. A depression of the dorsum of the nose with loss of nasal tip support and definition, shortened (vertical) nasal length, overrotation of the nasal tip, and retrusion of the nasal spine and caudal septum. subset: hposlim_core synonym: "Boxer's nasal deformity" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Boxer's nose deformity" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Concave dorsum of nose" EXACT [ORCID:0000-0001-5889-4463] synonym: "Concave nasal dorsum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Saddle nose" EXACT layperson [] synonym: "Saddle nose deformity" RELATED layperson [HPO:skoehler] synonym: "Saddle shaped nasal dorsum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Ski jump nose" EXACT layperson [] xref: SNOMEDCT_US:710234009 xref: UMLS:C0264169 is_a: HP:0011119 ! Abnormality of the nasal dorsum created_by: peter creation_date: 2011-06-12T09:39:55Z [Term] id: HP:0011121 name: Abnormality of skin morphology def: "Any morphological abnormality of the skin." [HPO:probinson] synonym: "Abnormal skin morphology" EXACT [ORCID:0000-0001-5208-3432] synonym: "Abnormal skin structure" EXACT layperson [ORCID:0000-0001-5208-3432] xref: Fyler:4133 xref: UMLS:C4023528 is_a: HP:0000951 ! Abnormality of the skin created_by: peter creation_date: 2011-06-12T10:03:23Z [Term] id: HP:0011122 name: Abnormality of skin physiology def: "Any abnormality of the physiological function of the skin." [HPO:probinson] synonym: "Abnormality of skin physiology" EXACT layperson [] xref: UMLS:C4023527 is_a: HP:0000951 ! Abnormality of the skin created_by: peter creation_date: 2011-06-12T10:05:14Z [Term] id: HP:0011123 name: Inflammatory abnormality of the skin alt_id: HP:0002727 alt_id: HP:0007423 def: "The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes." [HPO:probinson] synonym: "Abnormal tendency to infections of the skin" EXACT [] synonym: "Dermatitis" RELATED [] synonym: "Inflammatory abnormality of the skin" EXACT layperson [] synonym: "Inflammatory skin disease" RELATED [] synonym: "Skin inflammation" EXACT layperson [] xref: MP:0004947 xref: MSH:D003872 xref: SNOMEDCT_US:703938007 xref: UMLS:C0011603 xref: UMLS:C3875321 is_a: HP:0011122 ! Abnormality of skin physiology is_a: HP:0012649 ! Increased inflammatory response created_by: peter creation_date: 2011-06-12T10:06:04Z [Term] id: HP:0011124 name: Abnormality of epidermal morphology def: "An abnormality of the morphology of the epidermis." [HPO:probinson] xref: UMLS:C4023526 is_a: HP:0011121 ! Abnormality of skin morphology created_by: peter creation_date: 2011-06-12T10:11:28Z [Term] id: HP:0011125 name: Abnormality of dermal melanosomes def: "An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis)." [HPO:probinson] xref: UMLS:C4023525 is_a: HP:0001000 ! Abnormality of skin pigmentation created_by: peter creation_date: 2011-06-12T10:19:27Z [Term] id: HP:0011126 name: Nephroptosis def: "A significant descent of the kidney as the patient moves from the supine to the erect position." [HPO:probinson, pmid:18990154] comment: Nephroptosis is diagnosed if the descent of the kidney is greater than 5 cm or two vertebral bodies on intravenous urogram. The kidney is capable of moving back to the normal position, which differentiates it from an ectopic kidney, which constantly remains in an abnormal position. Nephroptosis may be asymptomatic or may cause symptoms including pain and intermittent ureteric obstruction with hydronephrosis, and ischemia due to elongation, narrowing, or kinking of a renal artery. synonym: "Floating kidney" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Renal ptosis" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C1384594 is_a: HP:0100542 ! Abnormal localization of kidney created_by: peter creation_date: 2011-06-16T07:34:25Z [Term] id: HP:0011127 name: Perioral eczema def: "A type of eczema that occurs in the lips and perioral area." [HPO:probinson] comment: Perioral eczema mainly affects children. synonym: "Eczema around the mouth" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1396126 is_a: HP:0000964 ! Eczema created_by: peter creation_date: 2011-06-16T07:41:19Z [Term] id: HP:0011128 name: Acute esophageal necrosis def: "A condition characterized by necrosis of the mucosal and submucosal layers of the esophagus not related to ingestion of caustic or other injurious agents. Endoscopically, there is a dark lesion ('black esophagus') distributed in a circumferential manner in the distal one-third of the esophagus with or without exudates. There is involvement of the distal esophagus ending sharply at the gastroesophageal junction." [HPO:probinson, pmid:17322991] xref: UMLS:C4023524 is_a: HP:0002031 ! Abnormal esophagus morphology created_by: peter creation_date: 2011-06-18T08:48:53Z [Term] id: HP:0011129 name: Bilateral fetal pyelectasis def: "A bilateral form of fetal pyelectasis." [HPO:probinson] synonym: "Bilateral fetal pyelectasia" EXACT [] xref: UMLS:C4023523 is_a: HP:0010945 ! Fetal pyelectasis created_by: peter creation_date: 2011-06-19T10:00:34Z [Term] id: HP:0011130 name: Abnormal renal calyx morphology def: "Any abnormality of the morphology of the major calices or minor calices of the kidney." [HPO:probinson] synonym: "Abnormality of renal calyx morphology" EXACT [] xref: UMLS:C4023522 is_a: HP:0012210 ! Abnormal renal morphology created_by: peter creation_date: 2011-06-19T10:06:45Z [Term] id: HP:0011131 name: Perianal rash def: "The presence of a rash (change of color and texture) of the perianal skin." [HPO:probinson] xref: UMLS:C0240705 is_a: HP:0004378 ! Abnormality of the anus created_by: peter creation_date: 2011-06-19T12:16:41Z [Term] id: HP:0011132 name: Chronic furunculosis def: "A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection." [HPO:probinson] comment: Note that a confluence of several furuncles results in a carbuncle. xref: UMLS:C4023521 is_a: HP:0005406 ! Recurrent bacterial skin infections created_by: peter creation_date: 2011-06-19T10:25:47Z [Term] id: HP:0011133 name: Increased sensitivity to ionizing radiation def: "An abnormally increased sensitivity to the effects of ionizing radiation." [HPO:probinson] comment: Ionizing radiation can lead to the production of free radicals, break chemical bonds, and damage DNA; RNA, and proteins. Cellular damage related to low doses such as that received from normal background radiation is rapidly repaired under normal conditions. synonym: "Increased sensitivity to ionising radiation" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4021850 is_a: HP:0011017 ! Abnormal cellular physiology created_by: peter creation_date: 2011-06-19T11:04:20Z [Term] id: HP:0011134 name: Low-grade fever def: "Mild fever that does not exceed 38.5 degree centrigrade." [HPO:probinson] synonym: "Low-grade fever" EXACT layperson [] synonym: "Mild fever" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:304213008 xref: UMLS:C0239574 is_a: HP:0001945 ! Fever created_by: peter creation_date: 2011-06-19T12:19:44Z [Term] id: HP:0011135 name: Aplasia/Hypoplasia of the sweat glands def: "Absence or developmental hypoplasia of the sweat glands." [HPO:probinson] synonym: "Absent/small sweat glands" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped sweat glands" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023520 is_a: HP:0000971 ! Abnormal sweat gland morphology created_by: peter creation_date: 2011-06-19T02:01:50Z [Term] id: HP:0011136 name: Aplasia of the sweat glands def: "Absence of the sweat glands." [HPO:probinson] synonym: "Absent sweat glands" EXACT layperson [] synonym: "Lack of sweat glands" EXACT layperson [] xref: UMLS:C2677485 is_a: HP:0011135 ! Aplasia/Hypoplasia of the sweat glands created_by: peter creation_date: 2011-06-19T02:06:44Z [Term] id: HP:0011137 name: Non-pruritic urticaria def: "Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus." [HPO:probinson] comment: Although the English-language names for uritcaria and non-pruritic urticaria are very similar these are treated as distinct lesions. Non-pruritic urticaria should not be considered to be a subclass of urticaria, because the latter is characterized by pruritus. synonym: "Non-itchy hives" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4023519 is_a: HP:0011276 ! Vascular skin abnormality created_by: peter creation_date: 2011-06-19T02:17:55Z [Term] id: HP:0011138 name: Abnormality of skin adnexa morphology def: "An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands." [HPO:probinson] synonym: "Abnormal skin appendage" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023518 is_a: HP:0001574 ! Abnormality of the integument created_by: peter creation_date: 2011-06-19T06:25:34Z [Term] id: HP:0011139 name: Gastric duplication def: "Gastric duplication is a usually cystic malformation of gastrointestinal tract, usually attached to the greater curvature of the stomach and has no communication with the stomach." [HPO:probinson] comment: Gastric duplication usually presents as gastric outlet obstruction. They are usually spherical in form, do not communicate with the stomach, and are generally localized at the greater curvature. In some cases they may exhibit adhesion to the pancreas and even communicate with aberrant pancreatic ducts. Gastric duplication is more frequent in females. It is generally either diagnosed in infancy because of symptoms of gastric outlet obstruction or is an incidental finding in adulthood. synonym: "Gastric duplication cyst" EXACT [] xref: UMLS:C4021201 is_a: HP:0002577 ! Abnormality of the stomach is_a: HP:0011140 ! Gastrointestinal duplication created_by: peter creation_date: 2011-06-25T08:57:09Z [Term] id: HP:0011140 name: Gastrointestinal duplication def: "A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus." [HPO:probinson, pmid:21218094] synonym: "GI duplication" EXACT HP:0045077 [] xref: SNOMEDCT_US:33257003 xref: UMLS:C0266019 is_a: HP:0012718 ! Morphological abnormality of the gastrointestinal tract created_by: peter creation_date: 2011-06-25T09:02:50Z [Term] id: HP:0011141 name: Age-related cataract def: "A type of cataract (opacification of the lens) that forms during the course of aging." [HPO:probinson, pmid:15708105] comment: The lens is formed from ectodermal tissue and contains epithelial cells that give rise to lens fibres throughout life, so with increasing age the lens becomes more compact and thicker. synonym: "Clouding of the lens of the eye with age" EXACT layperson [orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:39450006 xref: UMLS:C0036646 is_a: HP:0000518 ! Cataract created_by: peter creation_date: 2011-06-27T09:41:38Z [Term] id: HP:0011142 name: Age-related nuclear cataract def: "A type of age-related cataract that primarily affects the nucleus of the lens." [HPO:probinson, pmid:15708105] comment: As the lens ages, new layers of fibres are added and the lens nucleus is compressed and becomes harder (nuclear sclerosis cataract), with associated yellowing of the lens. Nuclear sclerosis typically progresses slowly. xref: MSH:C563333 xref: UMLS:C1832423 is_a: HP:0011141 ! Age-related cataract created_by: peter creation_date: 2011-06-27T09:49:20Z [Term] id: HP:0011143 name: Age-related cortical cataract def: "A type of age-related cataract that primarily affects the cortex of the lens." [HPO:probinson, pmid:15708105] comment: The cortex of the lens is made of the newest lens fibres. With ageing, discrete opacities can develop within the cortex of the lens that typically cause no visual symptoms unless they involve the visual axis or the entire cortex, in which case the lens becomes white and is said to be mature. xref: UMLS:C2880562 is_a: HP:0011141 ! Age-related cataract created_by: peter creation_date: 2011-06-27T09:50:54Z [Term] id: HP:0011144 name: Age-related posterior subcapsular cataract def: "A type of age-related cataract consisting of granular opacities occurring mainly in the central posterior cortex just under the posterior capsule." [HPO:probinson, pmid:15708105] xref: UMLS:C4023517 is_a: HP:0011141 ! Age-related cataract created_by: peter creation_date: 2011-06-27T09:52:45Z [Term] id: HP:0011145 name: Symptomatic seizures def: "A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed." [pmid:18184148] comment: While all patients with epilepsy experience seizures, not all individuals with seizures have epilepsy. One or more\nepileptic seizures may occur in the context of a brain insult (systemic, toxic, or metabolic). These events (defined acute symptomatic seizures, provoked seizures, or situation-related seizures) are presumed to be an acute\nmanifestation of the insult and may not recur when the underlying cause has been removed or the acute phase\nhas elapsed. xref: UMLS:C4023516 is_a: HP:0001250 ! Seizures created_by: peter creation_date: 2011-10-18T01:40:33Z [Term] id: HP:0011146 name: obsolete Dialeptic seizures is_obsolete: true replaced_by: HP:0002384 creation_date: 2011-10-18T01:47:30Z [Term] id: HP:0011147 name: Typical absence seizure def: "A typical absence seizure is a generalized seizure with abrupt onset and offset of altered awareness which can vary in severity (see specific syndromes). Memory for events during the seizures is usually impaired although there may be some retained awareness particularly for adolescents. Clonic movements of eyelids, head, eyebrows, chin, perioral or other facial parts may occur, most typically at 3Hz. Myoclonus of limbs can rarely occur. Oral and manual automatisms are common and there may be perseveration of behaviors occurring prior to seizure onset." [HPO:jalbers, PMID:28276062] comment: Typical absences have 2 essential components: (1) clinically the impairment of consciousness (absence), and (2) EEG generalized 3 Hz to 4 Hz (less than 2.5 Hz) spike and slow wave discharges. synonym: "Typical absence seizures" EXACT HP:0045078 [] xref: MSH:D004832 xref: SNOMEDCT_US:230413002 xref: SNOMEDCT_US:432241000124101 xref: SNOMEDCT_US:50866000 xref: SNOMEDCT_US:79631006 xref: UMLS:C0014553 is_a: HP:0002121 ! Absence seizure created_by: peter creation_date: 2011-10-18T01:52:22Z [Term] id: HP:0011148 name: obsolete Absence seizures with special features is_obsolete: true replaced_by: HP:0002121 creation_date: 2011-10-18T01:56:54Z [Term] id: HP:0011149 name: Absence seizure with eyelid myoclonia def: "Absence seizures accompanied by brief, repetitive, often rhythmic, fast (4-6 Hz) myoclonic jerks of the eyelids with simultaneous upward deviation of the eyeballs and extension of the head. Seizures are typically very brief (less than 6s in duration) and multiple seizures occur on a daily basis. Mostly awareness is retained." [HPO:jalbers, PMID:28276062] synonym: "Absence seizures with eyelid myoclonia" EXACT HP:0045078 [] xref: UMLS:C4023513 is_a: HP:0002121 ! Absence seizure created_by: peter creation_date: 2011-10-18T02:03:21Z [Term] id: HP:0011150 name: Myoclonic absence def: "Rhythmic myoclonic jerks of the shoulders and arms with tonic abduction that results in progressive lifting of the arms during the seizure. The myoclonic jerks are typically bilateral but may be unilateral or asymmetric. Perioral myoclonias and rhythmic jerks of the head and legs may occur. Seizures last 10-60 seconds and typically occur daily. Level of awareness varies from complete loss of awareness to retained awareness." [HPO:ihelbig, PMID:28276062] synonym: "Myoclonic absences" EXACT HP:0045078 [] xref: UMLS:C4023512 is_a: HP:0002121 ! Absence seizure created_by: peter creation_date: 2011-10-18T02:04:35Z [Term] id: HP:0011151 name: Obtundation status def: "Atypical absence lasting for more than 30 minutes." [HPO:jalbers] comment: Obtundation status is often seen in patients with Lennox-Gastaut-Syndrome. xref: UMLS:C4023511 is_a: HP:0007270 ! Atypical absence seizure is_a: HP:0031475 ! Nonconvulsive status epilepticus created_by: peter creation_date: 2011-10-18T02:09:55Z [Term] id: HP:0011152 name: Early onset absence seizures def: "Typical absence seizures starting before the age of 4 years." [HPO:ihelbig] synonym: "Early onset petit mal seizures" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4023510 is_a: HP:0011147 ! Typical absence seizure created_by: peter creation_date: 2011-10-18T02:12:41Z [Term] id: HP:0011153 name: Focal motor seizure def: "Focal seizures involving musculature in any form." [HPO:jalbers] comment: The motor event can consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. synonym: "Focal motor seizures" EXACT HP:0045078 [] synonym: "Localized motor seizures" EXACT [ORCID:0000-0001-6908-9849] synonym: "Partial motor seizures" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:D020938 xref: SNOMEDCT_US:128612007 xref: SNOMEDCT_US:82401000 xref: UMLS:C0016399 is_a: HP:0007359 ! Focal-onset seizure created_by: peter creation_date: 2011-10-18T02:33:17Z [Term] id: HP:0011154 name: Focal autonomic seizure def: "Focal seizures with an objectively documented and distinct alteration of autonomic nervous system function involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor and thermoregularity functions." [HPO:jalbers] synonym: "Focal autonomic seizures" EXACT HP:0045078 [] xref: UMLS:C4023509 is_a: HP:0007359 ! Focal-onset seizure created_by: peter creation_date: 2011-10-18T02:23:31Z [Term] id: HP:0011155 name: Focal autonomic seizures with altered responsiveness def: "An autonomic seizure with altered responsiveness." [HPO:jalbers] synonym: "Localized autonomic seizures with altered responsiveness" EXACT [ORCID:0000-0001-6908-9849] synonym: "Partial autonomic seizures with altered responsiveness" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4023508 is_a: HP:0011154 ! Focal autonomic seizure created_by: peter creation_date: 2011-10-18T02:24:09Z [Term] id: HP:0011156 name: Focal autonomic seizures without altered responsiveness def: "An autonomic seizure without altered responsiveness." [HPO:jalbers] synonym: "Localized autonomic seizures without altered responsiveness" EXACT [ORCID:0000-0001-6908-9849] synonym: "Partial autonomic seizures without altered responsiveness" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4023507 is_a: HP:0011154 ! Focal autonomic seizure created_by: peter creation_date: 2011-10-18T02:24:42Z [Term] id: HP:0011157 name: Focal sensory seizure def: "A focal sensory seizure involves a sensation being experienced at seizure onset, without objective clinical signs of a seizure evident to the observer." [DDD:ssisodiya, HPO:jalbers, PMID:28276062, PMID:28276064] synonym: "Epileptic aura" EXACT [] xref: MSH:D004827 xref: SNOMEDCT_US:18618006 xref: UMLS:C0236018 is_a: HP:0007359 ! Focal-onset seizure created_by: peter creation_date: 2011-10-18T02:26:40Z [Term] id: HP:0011158 name: Focal sensory auditory seizure def: "A type of focal sensory seizure that is characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones." [HPO:jalbers, PMID:28276062, PMID:28276064] comment: More complex auditory hallucinations such as voices are considered a focal cognitive seizure. Focal sensory auditory seizures involve auditory cortex in the lateral superior temporal lobe. synonym: "Auditory aura" EXACT [] xref: UMLS:C1838063 is_a: HP:0011157 ! Focal sensory seizure created_by: peter creation_date: 2011-10-18T02:26:59Z [Term] id: HP:0011159 name: Epigastric auras def: "Auras with abdominal discomfort including nausea, emptiness, tightness, churning, butterflies, malaise, pain, and hunger; sensation may rise to chest or throat. Some phenomena may reflect ictal autonomic dysfunction." [HPO:jalbers] synonym: "Abdominal aura" EXACT [ORCID:0000-0001-6908-9849] synonym: "Visceral aura" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4023506 is_a: HP:0011157 ! Focal sensory seizure created_by: peter creation_date: 2011-10-18T02:27:58Z [Term] id: HP:0011160 name: Focal sensory gustatory seizure def: "Auras with taste sensations including acidic, bitter, salty , sweet or metallic tastes." [HPO:jalbers] synonym: "Gustatory aura" EXACT [] synonym: "Gustatory auras" EXACT HP:0045078 [] synonym: "Taste hallucinations" EXACT layperson [http://medical-dictionary.thefreedictionary.com/gustatory+aura, ORCID:0000-0001-5208-3432] xref: MSH:D006212 xref: SNOMEDCT_US:29139005 xref: UMLS:C0233766 is_a: HP:0011157 ! Focal sensory seizure created_by: peter creation_date: 2011-10-18T02:28:36Z [Term] id: HP:0011161 name: Olfactory auras def: "Auras with sensation of odor, usually disagreeable." [HPO:jalbers] xref: UMLS:C4023504 is_a: HP:0011157 ! Focal sensory seizure created_by: peter creation_date: 2011-10-18T02:28:55Z [Term] id: HP:0011162 name: Psychic auras def: "Auras with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events." [HPO:jalbers] comment: Events may appear alone or in combination. Included are feelings of depersonalisation. These phenomena have subjective qualities similar to those experienced in life but are recognised by the subject as occurring outside of actual context. xref: UMLS:C4023503 is_a: HP:0011157 ! Focal sensory seizure created_by: peter creation_date: 2011-10-18T02:29:23Z [Term] id: HP:0011163 name: Somatosensory auras def: "Auras with sensation of tingling, numbness, electric shock sensations, pain, sense of movement, or desire to move." [HPO:jalbers] xref: UMLS:C4023502 is_a: HP:0011157 ! Focal sensory seizure created_by: peter creation_date: 2011-10-18T02:29:52Z [Term] id: HP:0011164 name: Vegetative auras def: "A sensation consistent with involvement of the autonomic nervous system, including cardiovascular, gastrointestinal, sudomotor, vasomotor and thermoregulatory functions." [HPO:jalbers] synonym: "Autonomic auras" EXACT [] xref: UMLS:C4021200 is_a: HP:0011157 ! Focal sensory seizure created_by: peter creation_date: 2011-10-18T02:30:10Z [Term] id: HP:0011165 name: Visual auras alt_id: HP:0007175 def: "Auras with sensation of flashing or flickering lights, spots, simple patterns, scotomata, or amaurosis." [HPO:jalbers] comment: Note that there is a distinction between Visual aura and Simple partial occipital seizures. See HPO term HP:0025121 for comments. xref: UMLS:C1850765 is_a: HP:0011157 ! Focal sensory seizure created_by: peter creation_date: 2011-10-18T02:31:15Z [Term] id: HP:0011166 name: Focal myoclonic seizures synonym: "Local myoclonic seizures" EXACT [ORCID:0000-0001-6908-9849] synonym: "Partial myoclonic seizures" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4023501 is_a: HP:0011153 ! Focal motor seizure created_by: peter creation_date: 2011-10-18T02:34:14Z [Term] id: HP:0011167 name: Focal tonic seizures def: "Seizures with sustained increase in muscle contraction in parts of the body lasting a few seconds to minutes." [HPO:jalbers] synonym: "Local tonic seizures" EXACT [ORCID:0000-0001-6908-9849] synonym: "Partial tonic seizures" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:D020938 xref: UMLS:C0752324 is_a: HP:0011153 ! Focal motor seizure created_by: peter creation_date: 2011-10-18T02:35:03Z [Term] id: HP:0011168 name: Eyelid myoclonias def: "Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures." [HPO:ihelbig] xref: UMLS:C4023500 is_a: HP:0011166 ! Focal myoclonic seizures created_by: peter creation_date: 2011-10-18T02:39:07Z [Term] id: HP:0011169 name: Generalized clonic seizures def: "Seizures with regularly repetitive myoclonus, involving the same muscle groups, at a frequency of about 2-3 c/sec." [HPO:jalbers] xref: UMLS:C4023499 is_a: HP:0002197 ! Generalized-onset seizure created_by: hecht creation_date: 2011-11-19T09:53:43Z [Term] id: HP:0011170 name: Myoclonic atonic seizures def: "Seizures with sudden loss or diminution of muscle tone with a preceding myoclonic or tonic event lasting one to two seconds or more, involving head, trunk, jaw or limb musculature." [HPO:jalbers] xref: MSH:D004831 xref: SNOMEDCT_US:230421008 xref: UMLS:C0393702 is_a: HP:0002123 ! Generalized myoclonic seizures created_by: hecht creation_date: 2011-11-19T10:00:46Z [Term] id: HP:0011171 name: Simple febrile seizures def: "Febrile seizures with generalized tonic-clonic semiology, duration less than 15 minutes, and without recurrence within the next 24 hours." [HPO:jalbers] synonym: "Simple febrile convulsion" EXACT [https://en.wikipedia.org/wiki/febrile_seizure, ORCID:0000-0001-5208-3432] synonym: "Simple fever fit" EXACT [https://en.wikipedia.org/wiki/febrile_seizure, ORCID:0000-0001-5208-3432] xref: MSH:D003294 xref: SNOMEDCT_US:432354000 xref: UMLS:C0149886 is_a: HP:0002373 ! Febrile seizures created_by: hecht creation_date: 2011-11-19T10:09:04Z [Term] id: HP:0011172 name: Complex febrile seizures def: "Febrile seizures with focal semiology, duration of more than 15 minutes, or occurring in a cluster of 2 or more convulsions within 24 hours." [HPO:jalbers] comment: Note that semiology refers to the clinical symptoms of an epileptic seizure. xref: MSH:D003294 xref: SNOMEDCT_US:433083002 xref: UMLS:C0751057 is_a: HP:0002373 ! Febrile seizures created_by: hecht creation_date: 2011-11-19T10:10:00Z [Term] id: HP:0011173 name: Hypokinetic seizures def: "Seizures with a decrease in amplitude and/or rate or arrest of ongoing motor activity." [HPO:jalbers] xref: UMLS:C4023498 is_a: HP:0011153 ! Focal motor seizure created_by: hecht creation_date: 2011-11-19T10:12:04Z [Term] id: HP:0011174 name: Hyperkinetic seizures def: "Seizures with increase in rate of ongoing movements or inappropriately rapid performance of a movement involving predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrashing, rocking movements." [HPO:jalbers] xref: UMLS:C4023497 is_a: HP:0011153 ! Focal motor seizure created_by: hecht creation_date: 2011-11-19T10:13:17Z [Term] id: HP:0011175 name: Versive seizures def: "Tonic seizures with a sustained, forced conjugate ocular, cephalic and/or truncal rotation or lateral deviation from the midline." [HPO:jalbers] xref: MSH:D020938 xref: SNOMEDCT_US:246530009 xref: UMLS:C0422846 is_a: HP:0011167 ! Focal tonic seizures created_by: hecht creation_date: 2011-11-19T10:14:54Z [Term] id: HP:0011176 name: EEG with constitutional variants def: "An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic." [HPO:jalbers] xref: UMLS:C4023496 is_a: HP:0002353 ! EEG abnormality created_by: hecht creation_date: 2011-11-19T10:18:43Z [Term] id: HP:0011177 name: EEG with 4-5/second background activity def: "EEG background activity at 4-5/second." [HPO:jalbers] comment: EEG background activity at 4-5/second is rare and unusual but not generally pathologic. xref: UMLS:C4023495 is_a: HP:0011176 ! EEG with constitutional variants created_by: hecht creation_date: 2011-11-19T10:20:59Z [Term] id: HP:0011178 name: Alpha-EEG def: "EEG dominated by diffuse alpha-waves (8-13Hz)." [HPO:jalbers] comment: Alpha-EEG is a rare finding but not generally pathologic. xref: UMLS:C4023494 is_a: HP:0011176 ! EEG with constitutional variants created_by: hecht creation_date: 2011-11-19T10:23:53Z [Term] id: HP:0011179 name: Beta-EEG def: "EEG dominated by diffuse beta-waves (>13 Hz)." [HPO:jalbers] comment: Beta-EEG is a rare finding but not generally pathologic. synonym: "Beta wave electroencephalography" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4023493 is_a: HP:0011176 ! EEG with constitutional variants is_a: HP:0011202 ! EEG with diffuse acceleration created_by: hecht creation_date: 2011-11-19T10:25:00Z [Term] id: HP:0011180 name: Partial beta-EEG def: "EEG dominated by diffuse beta waves (>13 Hz) with occipitally localized alpha waves (8-13 Hz)." [HPO:jalbers] comment: A partial beta-EEG is a rare finding but not generally pathologic. xref: UMLS:C4023492 is_a: HP:0011179 ! Beta-EEG created_by: hecht creation_date: 2011-11-19T10:25:50Z [Term] id: HP:0011181 name: Low voltage EEG def: "EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz)." [HPO:jalbers] comment: A low voltage EEG is a rare finding but not generally pathologic. xref: UMLS:C1851759 is_a: HP:0011176 ! EEG with constitutional variants created_by: hecht creation_date: 2011-11-19T10:27:20Z [Term] id: HP:0011182 name: Interictal epileptiform activity def: "Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure." [HPO:probinson] comment: Epileptiform EEG discharges include small sharp spikes (SSSs), wicket spikes, 14- and 6-Hz positive spikes, phantom spike and waves, psychomotor variant, subclinical rhythmic EEG discharges of adults (SREDA), and midline theta rhythm. synonym: "Epileptiform EEG discharges" EXACT [] xref: UMLS:C4023491 is_a: HP:0025373 ! Interictal EEG abnormality created_by: hecht creation_date: 2011-11-19T10:32:25Z [Term] id: HP:0011183 name: EEG with hyperventilation-induced focal epileptiform discharges def: "Focal epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO:jalbers] xref: UMLS:C4023490 is_a: HP:0010858 ! EEG with hyperventilation-induced epileptiform discharges created_by: hecht creation_date: 2011-11-19T10:36:34Z [Term] id: HP:0011184 name: EEG with hyperventilation-induced generalized epileptiform discharges def: "Generalized epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO:jalbers] xref: UMLS:C4023489 is_a: HP:0010858 ! EEG with hyperventilation-induced epileptiform discharges created_by: hecht creation_date: 2011-11-19T10:37:49Z [Term] id: HP:0011185 name: EEG with focal epileptiform discharges alt_id: HP:0010840 def: "EEG discharges recorded in particular areas of the A localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO:jalbers] comment: Note that a focal EEG abnormality is not synonymous with "focal epileptiform discharges" because a focal EEG abnormality is not necessarily epileptiform (e.g., it could be a focal slowing). synonym: "Focal EEG Abnormality" EXACT [] xref: UMLS:C4021199 is_a: HP:0011182 ! Interictal epileptiform activity created_by: hecht creation_date: 2011-11-19T10:39:02Z [Term] id: HP:0011186 name: Focal epileptiform discharges with limited propagation to contralateral hemisphere def: "Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization." [HPO:jalbers] xref: UMLS:C4023488 is_a: HP:0011185 ! EEG with focal epileptiform discharges created_by: hecht creation_date: 2011-11-19T10:40:22Z [Term] id: HP:0011187 name: Focal EEG discharges with propagation to ipsilateral hemisphere def: "Focal epileptiform discharges with spreading to the hemisphere on the same side of the brain." [HPO:jalbers] xref: UMLS:C4023487 is_a: HP:0011185 ! EEG with focal epileptiform discharges created_by: hecht creation_date: 2011-11-19T10:43:06Z [Term] id: HP:0011188 name: Focal EEG discharges with secondary generalization def: "Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp." [HPO:jalbers] xref: UMLS:C4023486 is_a: HP:0011185 ! EEG with focal epileptiform discharges created_by: hecht creation_date: 2011-11-19T10:44:33Z [Term] id: HP:0011189 name: Bilateral multifocal epileptiform discharges def: "Epileptiform discharges being identified at multiple locations in both hemispheres." [HPO:jalbers] xref: UMLS:C4023485 is_a: HP:0010841 ! Multifocal epileptiform discharges created_by: hecht creation_date: 2011-11-19T10:47:23Z [Term] id: HP:0011190 name: Uni- and bilateral multifocal epileptiform discharges def: "Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere." [HPO:jalbers] xref: UMLS:C4023484 is_a: HP:0010841 ! Multifocal epileptiform discharges created_by: hecht creation_date: 2011-11-19T10:48:14Z [Term] id: HP:0011191 name: Unilateral multifocal epileptiform discharges def: "Epileptiform discharges being identified at multiple locations in one hemisphere." [HPO:jalbers] xref: UMLS:C4023483 is_a: HP:0010841 ! Multifocal epileptiform discharges created_by: hecht creation_date: 2011-11-19T10:48:51Z [Term] id: HP:0011192 name: Polymorphic focal epileptiform discharges def: "Focal epileptiform discharges of different shapes and frequencies." [HPO:jalbers] xref: UMLS:C4023482 is_a: HP:0011185 ! EEG with focal epileptiform discharges created_by: hecht creation_date: 2011-11-19T10:49:45Z [Term] id: HP:0011193 name: EEG with focal spikes def: "EEG with focal sharp transient waves of a duration less than 80 msec." [HPO:jalbers] xref: UMLS:C4023481 is_a: HP:0011185 ! EEG with focal epileptiform discharges created_by: hecht creation_date: 2011-11-19T10:50:36Z [Term] id: HP:0011194 name: EEG with series of focal spikes def: "Focal spikes occurring for several seconds." [HPO:jalbers] xref: UMLS:C4023480 is_a: HP:0011193 ! EEG with focal spikes created_by: hecht creation_date: 2011-11-19T10:51:41Z [Term] id: HP:0011195 name: EEG with focal sharp slow waves def: "EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO:jalbers] xref: UMLS:C4023479 is_a: HP:0011185 ! EEG with focal epileptiform discharges created_by: hecht creation_date: 2011-11-19T11:02:29Z [Term] id: HP:0011196 name: EEG with focal sharp waves def: "EEG with focal sharp transient waves of a duration between 80 and 200 msec." [HPO:jalbers] xref: UMLS:C4023478 is_a: HP:0011185 ! EEG with focal epileptiform discharges created_by: hecht creation_date: 2011-11-19T11:11:50Z [Term] id: HP:0011197 name: EEG with focal spike waves def: "EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave." [HPO:jalbers] xref: UMLS:C4023477 is_a: HP:0011185 ! EEG with focal epileptiform discharges created_by: hecht creation_date: 2011-11-19T11:12:45Z [Term] id: HP:0011198 name: EEG with generalized epileptiform discharges alt_id: HP:0010842 def: "EEG discharges recorded on the entire scalp typically seen in persons with epilepsy." [HPO:jalbers] comment: Spikes (<70 ms) and sharp waves (70-200 ms) are sharp transient waves that have a strong association with epilepsy. No difference is noted in terms of clinical significance of spikes and sharp waves. Significant spikes usually are followed by a slow wave. xref: UMLS:C4023476 is_a: HP:0011182 ! Interictal epileptiform activity created_by: hecht creation_date: 2011-11-19T11:15:46Z [Term] id: HP:0011199 name: EEG with generalized sharp slow waves def: "EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO:jalbers] xref: UMLS:C4023475 is_a: HP:0011198 ! EEG with generalized epileptiform discharges created_by: hecht creation_date: 2011-11-19T11:17:38Z [Term] id: HP:0011200 name: EEG with generalized polymorphic epileptiform discharges def: "Generalized epileptiform discharges of different shapes and frequencies." [HPO:jalbers] xref: UMLS:C4023474 is_a: HP:0011198 ! EEG with generalized epileptiform discharges created_by: hecht creation_date: 2011-11-19T11:19:04Z [Term] id: HP:0011201 name: EEG with changes in voltage def: "EEG with abnormal amplitude." [HPO:jalbers] xref: UMLS:C4023473 is_a: HP:0002353 ! EEG abnormality created_by: hecht creation_date: 2011-11-19T11:20:13Z [Term] id: HP:0011202 name: EEG with diffuse acceleration def: "EEG frequency is abnormally increased." [HPO:probinson] xref: UMLS:C4023472 is_a: HP:0002353 ! EEG abnormality created_by: hecht creation_date: 2011-11-19T11:23:55Z [Term] id: HP:0011203 name: EEG with abnormally slow frequencies def: "EEG with abnormally slow frequencies." [HPO:jalbers] xref: UMLS:C4023471 is_a: HP:0002353 ! EEG abnormality created_by: hecht creation_date: 2011-11-19T11:26:47Z [Term] id: HP:0011204 name: EEG with continuous slow activity def: "EEG showing diffuse slowing without interruption." [HPO:jalbers] xref: UMLS:C4023470 is_a: HP:0010845 ! EEG with generalized slow activity created_by: hecht creation_date: 2011-11-19T11:28:47Z [Term] id: HP:0011205 name: EEG with intermittent slow activity def: "Non-continuous diffuse slowing of electroencephalographic patterns." [HPO:jalbers] xref: UMLS:C4023469 is_a: HP:0010845 ! EEG with generalized slow activity created_by: hecht creation_date: 2011-11-19T11:30:20Z [Term] id: HP:0011206 name: EEG with generalized slow activity grade 1 def: "Slowing at frequencies between 7.5 and 8.5 Hz." [HPO:jalbers] xref: UMLS:C4023468 is_a: HP:0010845 ! EEG with generalized slow activity created_by: hecht creation_date: 2011-11-19T11:31:28Z [Term] id: HP:0011207 name: EEG with generalized slow activity grade 2 def: "Generalized slowing of EEG activity at frequencies between 4-7 Hz." [HPO:jalbers] xref: UMLS:C4023467 is_a: HP:0010845 ! EEG with generalized slow activity created_by: peter creation_date: 2011-11-19T12:42:03Z [Term] id: HP:0011208 name: EEG with generalized slow activity grade 3 def: "Generalized slowing of EEG activity at frequencies between 0.5-3 Hz." [HPO:jalbers] xref: UMLS:C4023466 is_a: HP:0010845 ! EEG with generalized slow activity created_by: peter creation_date: 2011-11-19T12:44:11Z [Term] id: HP:0011209 name: EEG with generalized slow activity grade 4 def: "EEG without electrical activity." [HPO:jalbers] synonym: "Flat line EEG" EXACT [] xref: UMLS:C4021198 is_a: HP:0010845 ! EEG with generalized slow activity created_by: peter creation_date: 2011-11-19T12:46:05Z [Term] id: HP:0011210 name: EEG with occipital slowing def: "Slowing in occipital areas of the scalp EEG." [HPO:jalbers] xref: UMLS:C4023465 is_a: HP:0010843 ! EEG with focal slow activity created_by: peter creation_date: 2011-11-19T12:55:32Z [Term] id: HP:0011211 name: EEG with photoparoxysmal response grade I def: "Occurrence of epileptiform discharges in occipital regions during photic stimulation." [HPO:jalbers] xref: UMLS:C4023464 is_a: HP:0010852 ! EEG with photoparoxysmal response created_by: peter creation_date: 2011-11-19T12:59:07Z [Term] id: HP:0011212 name: EEG with photoparoxysmal response grade II def: "Occurence of epileptiform discharges in occipital and central regions during photic stimulation." [HPO:jalbers] xref: UMLS:C4023463 is_a: HP:0010852 ! EEG with photoparoxysmal response created_by: peter creation_date: 2011-11-19T12:59:32Z [Term] id: HP:0011213 name: EEG with photoparoxysmal response grade III def: "Occurrence of epileptiform discharges in occipital, central, temporal and parietal regions during photic stimulation." [HPO:jalbers] xref: UMLS:C4023462 is_a: HP:0010852 ! EEG with photoparoxysmal response created_by: peter creation_date: 2011-11-19T12:59:57Z [Term] id: HP:0011214 name: EEG with photoparoxysmal response grade IV def: "Occurrence of generalized epileptiform discharges during photic stimulation." [HPO:jalbers] xref: UMLS:C4023461 is_a: HP:0010852 ! EEG with photoparoxysmal response created_by: peter creation_date: 2011-11-19T01:01:38Z [Term] id: HP:0011215 name: Hemihypsarrhythmia def: "Hypsarrhythmia occurring in one hemisphere." [HPO:jalbers] xref: UMLS:C4023460 is_a: HP:0011185 ! EEG with focal epileptiform discharges created_by: peter creation_date: 2011-11-29T07:42:18Z [Term] id: HP:0011217 name: Abnormal shape of the occiput def: "An abnormal shape of occiput." [HPO:probinson] synonym: "Abnormal shape of posterior cranium" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormal shape of posterior head" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormal shape of posterior skull" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormal shape of the back of the head" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormal shape of the back of the skull" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023459 is_a: HP:0002648 ! Abnormality of calvarial morphology created_by: peter creation_date: 2011-12-03T10:14:06Z [Term] id: HP:0011218 name: Abnormal shape of the frontal region def: "An abnormal shape of the frontal part of the head." [HPO:probinson] synonym: "Abnormal morphology of the frontal region" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormal shape of the forehead" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Dysmorphic forehead" EXACT [ORCID:0000-0001-5889-4463] synonym: "Dysmorphic frontal region" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023458 is_a: HP:0002648 ! Abnormality of calvarial morphology created_by: peter creation_date: 2011-12-03T10:26:03Z [Term] id: HP:0011219 name: Short face def: "Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective)." [pmid:19125436] comment: Objective measurement of face height is made with sliding calipers from the nasion, just above the depth of the nasal root to the gnathion, the inferior border of the mandible, both in the midline. Note that short face is distinct from wide face. subset: hposlim_core synonym: "Decreased height of face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased length of face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased vertical dimension of face" EXACT [ORCID:0000-0001-5889-4463] synonym: "Short face" EXACT layperson [] synonym: "Short facies" EXACT [ORCID:0000-0001-5889-4463] synonym: "Vertical deficiency of face" EXACT [ORCID:0000-0001-5889-4463] synonym: "Vertical Facial Deficiency" EXACT [ORCID:0000-0001-5889-4463] synonym: "Vertical facial insufficiency" EXACT [ORCID:0000-0001-5889-4463] synonym: "Vertical hypoplasia of face" EXACT [ORCID:0000-0001-5889-4463] synonym: "Vertical insufficiency of face" EXACT [ORCID:0000-0001-5889-4463] synonym: "Vertical shortening of face" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023457 is_a: HP:0000274 ! Small face created_by: peter creation_date: 2011-12-07T09:01:18Z [Term] id: HP:0011220 name: Prominent forehead alt_id: HP:0200061 def: "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [pmid:19125436] comment: Not to be confused with frontal bossing. subset: hposlim_core synonym: "Bulging forehead" RELATED layperson [] synonym: "Prominence of frontal region" EXACT [ORCID:0000-0001-5889-4463] synonym: "Prominent forehead" EXACT layperson [] synonym: "Pronounced forehead" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Protruding forehead" EXACT layperson [] xref: UMLS:C1837260 xref: UMLS:C1867446 is_a: HP:0000290 ! Abnormality of the forehead created_by: peter creation_date: 2011-12-07T09:49:36Z [Term] id: HP:0011221 name: Vertical forehead creases def: "Vertical soft tissue creases in the midline of the forehead, often extending from the hairline to the brow, and seen with facial expression or when the face is at rest." [pmid:19125436] subset: hposlim_core synonym: "Frontal creases of face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Vertical forehead creases" EXACT layperson [] synonym: "Vertical forehead rhytids" EXACT [] synonym: "Vertical forehead wrinkles" EXACT layperson [] xref: UMLS:C4023456 is_a: HP:0000290 ! Abnormality of the forehead created_by: peter creation_date: 2011-12-07T09:55:15Z [Term] id: HP:0011222 name: Depressed glabella def: "Posterior positioning of the glabella, i.e., of the midline forehead between the supraorbital ridges." [HPO:probinson, pmid:19125436] comment: The glabella is the area of the forehead in the midline between the supraorbital ridges, just above the nasal root. synonym: "Concave glabella" EXACT [] synonym: "Deficiency of glabella" EXACT [] synonym: "Deficient area between the eyebrows" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Flat area between the eyebrows" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Flat glabella" EXACT [] synonym: "Hypoplasia of glabella" EXACT [] xref: UMLS:C4023455 is_a: HP:0002056 ! Abnormality of the glabella created_by: peter creation_date: 2011-12-07T10:03:30Z [Term] id: HP:0011223 name: Metopic depression def: "Linear vertical groove in the midline of the forehead, extending from hairline to glabella." [pmid:19125436] subset: hposlim_core synonym: "Depression of frontal cranial suture" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Depression of metopic cranial suture" EXACT [ORCID:0000-0001-5889-4463] synonym: "Frontal suture depression" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023454 is_a: HP:0005556 ! Abnormality of the metopic suture created_by: peter creation_date: 2011-12-07T10:34:38Z [Term] id: HP:0011224 name: Ablepharon alt_id: HP:0009925 def: "Absent eyelids." [pmid:19125427] comment: In ablepharon, the globe is continuously exposed. It is arguable whether true aplasia of the eyelid exists, or whether this represents severe hypoplasia. Nevertheless, as it is difficult or impossible to make this distinction on clinical grounds, the term was felt to be useful. subset: hposlim_core synonym: "Ablepharon of eyelid" EXACT [] synonym: "Absent eyelids" EXACT layperson [] synonym: "Agenesis of eyelids" EXACT [ORCID:0000-0001-5889-4463] synonym: "Aplasia of the eyelids" RELATED [] synonym: "Missing eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:13401001 xref: SNOMEDCT_US:708541009 xref: UMLS:C0266574 xref: UMLS:C4020757 is_a: HP:0011226 ! Aplasia/Hypoplasia of the eyelid created_by: peter creation_date: 2011-12-13T07:58:12Z [Term] id: HP:0011225 name: Epiblepharon def: "Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva." [pmid:19125427] comment: Epiblepharon should be distinguished from entropion. subset: hposlim_core xref: SNOMEDCT_US:253212001 xref: UMLS:C0344503 is_a: HP:0000492 ! Abnormal eyelid morphology created_by: peter creation_date: 2011-12-13T08:28:48Z [Term] id: HP:0011226 name: Aplasia/Hypoplasia of the eyelid def: "Absence or underdevelopment of the eyelid." [HPO:probinson] synonym: "Failure of development of eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Hypotrophic eyelid" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023453 is_a: HP:0000492 ! Abnormal eyelid morphology created_by: peter creation_date: 2011-12-13T08:38:23Z [Term] id: HP:0011227 name: Elevated C-reactive protein level def: "An abnormal elevation of the C-reactive protein level in serum." [HPO:probinson] comment: C-reactive protein (CRP) is produced by the liver, and increases in concentration in response to inflammation. synonym: "Elevated CRP" RELATED [] xref: UMLS:C0742906 xref: UMLS:C4023452 is_a: HP:0032436 ! Abnormal C-reactive protein level created_by: peter creation_date: 2011-12-13T11:04:10Z [Term] id: HP:0011228 name: Horizontal eyebrow def: "An eyebrow that extends straight across the brow, without curve." [pmid:19125427] subset: hposlim_core synonym: "Flat eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Horizontal eyebrow" EXACT layperson [] synonym: "Lack of eyebrow arch" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Lack of eyebrow curvature" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Straight eyebrow" EXACT layperson [] synonym: "Straight eyebrows" RELATED layperson [HPO:skoehler] xref: UMLS:C3277019 is_a: HP:0000534 ! Abnormal eyebrow morphology created_by: peter creation_date: 2011-12-14T08:18:29Z [Term] id: HP:0011229 name: Broad eyebrow def: "Regional increase in the width (height) of the eyebrow." [pmid:19125427] comment: Broadening or flaring can be medial or lateral. Flaring is used to describe a widening with a change in direction of the eyebrow hairs. subset: hposlim_core synonym: "Broad eyebrow" EXACT layperson [] synonym: "Broad eyebrows" EXACT layperson [HPO:skoehler] synonym: "Flared eyebrow" EXACT layperson [] synonym: "Flared eyebrows" RELATED layperson [HPO:skoehler] synonym: "Increased vertical height of eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased vertical thickness of eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased vertical width of eyebrow" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1856121 is_a: HP:0000534 ! Abnormal eyebrow morphology created_by: peter creation_date: 2011-12-14T08:21:26Z [Term] id: HP:0011230 name: Laterally extended eyebrow def: "An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location." [pmid:19125427] comment: The degree of extension beyond the obital rim that is considered abnormal has not been established. synonym: "Increased lateral length of eyebrow" EXACT [ORCID:0000-0001-5889-4463] synonym: "Laterally elongated eyebrow" EXACT [ORCID:0000-0001-5889-4463] synonym: "Laterally extended eyebrows" EXACT layperson [] xref: UMLS:C4023451 is_a: HP:0000534 ! Abnormal eyebrow morphology created_by: peter creation_date: 2011-12-14T08:27:22Z [Term] id: HP:0011231 name: Prominent eyelashes def: "Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly." [pmid:19125427] synonym: "Prominent eyelashes" EXACT layperson [] synonym: "Thick eyelashes" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1835802 xref: UMLS:C4023450 is_a: HP:0000499 ! Abnormal eyelash morphology created_by: peter creation_date: 2011-12-14T08:31:24Z [Term] id: HP:0011232 name: Infra-orbital fold def: "Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge." [pmid:19125427] comment: This term excludes epicanthus inversus. subset: hposlim_core synonym: "Dennie-Morgan fold" RELATED [] synonym: "Infraorbital fold" EXACT [] xref: UMLS:C4023449 is_a: HP:0000606 ! Abnormality of the periorbital region created_by: peter creation_date: 2011-12-14T07:00:48Z [Term] id: HP:0011233 name: Antihelical shelf def: "Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha." [pmid:19152421] comment: In marked cases this often appears to be associated with lack of lateral protrusion of the antihelix. synonym: "Conchal shelf" EXACT [] xref: UMLS:C4021197 is_a: HP:0009738 ! Abnormality of the antihelix created_by: peter creation_date: 2011-12-15T07:03:37Z [Term] id: HP:0011234 name: Absent antihelix def: "No discernible ridge between concha and triangular fossa and helix." [HPO:19152421] comment: This finding is common in a protruding and cupped ear, where the superior and inferior parts of the antihelix are often absent. This is distinct from partial absence of the antihelix as may occur in, for example, underdeveloped inferior crus of the antihelix. xref: UMLS:C4023448 is_a: HP:0009738 ! Abnormality of the antihelix created_by: peter creation_date: 2011-12-15T07:09:03Z [Term] id: HP:0011235 name: Additional crus of antihelix def: "Supernumerary ridge or crus of the ear arising from the antihelix." [pmid:19152421] comment: The supernumerary crus usually emanates posteriorly from the antihelix at, or just above, the point of its bifurcation but may have a different origin. In the former case, the finding is termed Stahl ear. xref: UMLS:C4023447 is_a: HP:0009738 ! Abnormality of the antihelix created_by: peter creation_date: 2011-12-15T07:16:54Z [Term] id: HP:0011236 name: Angulated antihelix def: "Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc." [pmid:19152421] xref: UMLS:C4023446 is_a: HP:0009738 ! Abnormality of the antihelix created_by: peter creation_date: 2011-12-18T10:42:17Z [Term] id: HP:0011237 name: Broad inferior crus of antihelix def: "Increased width of the inferred cross-section of the inferior crus." [pmid:19152421] comment: This finding is highly variable. The inferior crus is usually sharply folded giving a narrow profile. synonym: "Antihelix, inferior crus, broad" EXACT [] xref: UMLS:C4021196 is_a: HP:0011243 ! Abnormality of inferior crus of antihelix created_by: peter creation_date: 2011-12-18T10:46:34Z [Term] id: HP:0011238 name: Prominent inferior crus of antihelix def: "Increased protrusion of the inferior crus relative to the prominence of the antihelix stem." [HPO:19152421] synonym: "Antihelix, inferior crus, prominent" EXACT [] synonym: "Hyperplastic inferior crus of antihelix" EXACT [] synonym: "Hypertrophic inferior crus of antihelix" EXACT [] xref: UMLS:C4021195 is_a: HP:0011243 ! Abnormality of inferior crus of antihelix created_by: peter creation_date: 2011-12-18T11:24:43Z [Term] id: HP:0011239 name: Underdeveloped inferior crus of antihelix def: "Decreased protrusion of the inferior crus relative to the prominence of the antihelix stem." [pmid:19152421] comment: This finding is highly variable. synonym: "Antihelix, inferior crus, underdeveloped" EXACT [] synonym: "Hypoplastic inferior crus of antihelix" EXACT [] synonym: "Hypotrophic inferior crus of antihelix" EXACT [] xref: UMLS:C4021194 is_a: HP:0011243 ! Abnormality of inferior crus of antihelix created_by: peter creation_date: 2011-12-18T11:27:15Z [Term] id: HP:0011240 name: Prominent stem of antihelix def: "Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix." [pmid:19152421] comment: This finding is highly variable. The relative prominence is attributable to either increased volume of the cartilage and/or the acuteness of the folding angle. Interpretation of relative antihelical prominence may be difficult when the conchal anatomy is distorted, for example, with a cupped ear. synonym: "Hyperplastic antihelix stem" EXACT [] synonym: "Hypertrophic antihelix stem" EXACT [] xref: UMLS:C4020910 is_a: HP:0011244 ! Abnormality of stem of antihelix created_by: peter creation_date: 2011-12-18T11:32:08Z [Term] id: HP:0011241 name: Serpiginous stem of antihelix def: "Posterior curving of the antihelix from its origin at the antitragus, traveling initially almost perpendicular to the descending helix and obscuring some of the concha." [pmid:19152421] synonym: "Antihelix, stem, serpiginous" EXACT [] xref: UMLS:C4021193 is_a: HP:0011244 ! Abnormality of stem of antihelix created_by: peter creation_date: 2011-12-18T11:35:53Z [Term] id: HP:0011242 name: Underdeveloped stem of antihelix def: "Decreased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of a normal helix." [pmid:19152421] comment: The degree of prominence of the stem is highly variable and is attributable to the volume of the cartilage and/or the acuteness of the folding angle. Interpretation of degree of antihelical prominence may be difficult when the conchal anatomy is distorted, e.g., in cupped ear. synonym: "Antihelix, stem, underdeveloped" EXACT [] xref: UMLS:C4021192 is_a: HP:0011244 ! Abnormality of stem of antihelix created_by: peter creation_date: 2011-12-18T11:38:15Z [Term] id: HP:0011243 name: Abnormality of inferior crus of antihelix def: "An abnormality of the inferior crus of the antihelix is the lower cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa." [HPO:probinson, pmid:19152421] comment: The inferior antihelical crus runs in an anterior and slightly superior direction, and is usually sharply defined, and appears less variable than its superior counterpart. A synonym is anterior crus of the antihelix. synonym: "Abnormality of anterior crus of antihelix" EXACT [] xref: UMLS:C4021191 is_a: HP:0009738 ! Abnormality of the antihelix created_by: peter creation_date: 2011-12-18T11:41:44Z [Term] id: HP:0011244 name: Abnormality of stem of antihelix def: "An abnormality of the stem of the antihelix, which is the part below the bifurcation of the antihelix into the inferior and superior crura." [HPO:probinson] xref: UMLS:C4023445 is_a: HP:0009738 ! Abnormality of the antihelix created_by: peter creation_date: 2011-12-18T11:50:01Z [Term] id: HP:0011245 name: Abnormality of superior crus of antihelix def: "An abnormality of the superior crus of the antihelix is the upper cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa." [HPO:probinson, pmid:19152421] comment: The inferior antihelical crus runs in an anterior and slightly superior direction, and is usually sharply defined, and appears less variable than its superior counterpart. A synonym is anterior crus of the antihelix. synonym: "Abnormality of posterior crus of antihelix" EXACT [] xref: UMLS:C4021190 is_a: HP:0009738 ! Abnormality of the antihelix created_by: peter creation_date: 2011-12-18T11:52:06Z [Term] id: HP:0011246 name: Underdeveloped superior crus of antihelix def: "Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem." [pmid:19152421] comment: This finding is highly variable. There may be an inverse relationship between the relative sizes of the superior and inferior crura, but these findings should be coded separately. synonym: "Hypoplastic superior crus of antihelix" EXACT [] synonym: "Hypotrophic superior crus of antihelix" EXACT [] xref: UMLS:C4021189 is_a: HP:0011245 ! Abnormality of superior crus of antihelix created_by: peter creation_date: 2011-12-18T12:00:18Z [Term] id: HP:0011247 name: Prominent superior crus of antihelix def: "Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem." [pmid:19152421] comment: This finding is highly variable. There may be an inverse relationship between the relative sizes of the superior and inferior crura, but these findings should be coded separately. synonym: "Hyperplastic superior crus of antihelix" EXACT [] synonym: "Hypertrophic superior crus of antihelix" EXACT [] xref: UMLS:C4021188 is_a: HP:0011245 ! Abnormality of superior crus of antihelix created_by: peter creation_date: 2011-12-18T12:02:57Z [Term] id: HP:0011248 name: Everted antitragus def: "Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear)." [pmid:19152421] xref: UMLS:C4023444 is_a: HP:0009896 ! Abnormality of the antitragus created_by: peter creation_date: 2011-12-18T12:11:37Z [Term] id: HP:0011249 name: Absent antitragus def: "Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix." [pmid:19152421] comment: The size of the antitragus is highly variable. xref: UMLS:C4023443 is_a: HP:0009896 ! Abnormality of the antitragus created_by: peter creation_date: 2011-12-18T12:13:00Z [Term] id: HP:0011250 name: Bifid antitragus def: "Double rather than single peak of the antitragus." [pmid:19152421] synonym: "Double antitragus" EXACT [] xref: UMLS:C4021187 is_a: HP:0009896 ! Abnormality of the antitragus created_by: peter creation_date: 2011-12-18T12:14:26Z [Term] id: HP:0011251 name: Underdeveloped antitragus def: "Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix." [HPO:probinson, pmid:19152421] synonym: "Hypoplastic antitragus" EXACT [] synonym: "Hypotrophic antitragus" EXACT [] synonym: "Small antitragus" EXACT [] xref: UMLS:C4021186 is_a: HP:0009896 ! Abnormality of the antitragus created_by: peter creation_date: 2011-12-18T01:59:04Z [Term] id: HP:0011252 name: Cryptotia def: "Invagination of the superior part of the auricle under a fold of temporal skin." [pmid:19152421] comment: There are associated anomalies of the upper antihelix and crura. The upper one-third of the auricle is primarily affected and there is an inferomedial displacement of the Helical Darwin tubercle. Two types are recognized. Type I: the antihelix and superior crus are reduced in size; type II: it is the antihelix and inferior crus that are affected. subset: hposlim_core synonym: "Buried ear" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Hidden ear" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:429967001 xref: UMLS:C2315717 is_a: HP:0000377 ! Abnormality of the pinna created_by: peter creation_date: 2011-12-18T02:12:10Z [Term] id: HP:0011253 name: Type I cryptotia def: "A type of cryptotia associated with reduction in size of the antihelix and superior crus." [HPO:probinson] synonym: "Type 1 cryptotia" EXACT [] xref: UMLS:C4023442 is_a: HP:0011252 ! Cryptotia created_by: peter creation_date: 2011-12-18T02:14:49Z [Term] id: HP:0011254 name: Type II cryptotia def: "A type of cryptotia associated with reduction in size of the antihelix and inferior crus that are affected." [HPO:probinson] synonym: "Type 2 cryptotia" EXACT [] xref: UMLS:C4023441 is_a: HP:0011252 ! Cryptotia created_by: peter creation_date: 2011-12-18T02:15:48Z [Term] id: HP:0011255 name: Absent crus of helix def: "Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha." [pmid:19152421] synonym: "Helix, crus, absent" EXACT [] xref: UMLS:C4021185 is_a: HP:0009895 ! Abnormality of the crus of the helix created_by: peter creation_date: 2011-12-18T05:50:59Z [Term] id: HP:0011256 name: Crus of helix connected to antihelix def: "Extension of the ridge of the crus helix across the ear and connection of the crus to the antihelix." [pmid:19152421] synonym: "Helix, crus, connected to antihelix" EXACT [] xref: UMLS:C4021184 is_a: HP:0009895 ! Abnormality of the crus of the helix created_by: peter creation_date: 2011-12-18T05:51:54Z [Term] id: HP:0011257 name: Serpiginous crus of helix def: "Curving course of the crus of the helix, approaching or joining the antitragus." [pmid:19152421] synonym: "Helix, crus, serpiginous" EXACT [] xref: UMLS:C4021183 is_a: HP:0009895 ! Abnormality of the crus of the helix created_by: peter creation_date: 2011-12-18T05:56:25Z [Term] id: HP:0011258 name: Tragal bridge of crus of helix def: "The anterior origin of the crus encompasses the superior margin of the tragus, the crus overrides the upper portion of the conchal cavum and ends at the antihelix." [pmid:19152421] synonym: "Helix, crus, tragal bridge" EXACT [] xref: UMLS:C4021182 is_a: HP:0009895 ! Abnormality of the crus of the helix created_by: peter creation_date: 2011-12-18T05:58:24Z [Term] id: HP:0011259 name: Expanded terminal portion of crus of helix def: "Widening, rather than tapering, of the crus at its posterior border near the antihelix." [pmid:19152421] synonym: "Helix, crus, expanded terminal portion" EXACT [] xref: UMLS:C4021181 is_a: HP:0009895 ! Abnormality of the crus of the helix created_by: peter creation_date: 2011-12-18T06:00:07Z [Term] id: HP:0011260 name: Darwin notch of helix def: "Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix." [pmid:19152421] synonym: "Helix, Darwin notch" EXACT [] xref: UMLS:C4021180 is_a: HP:0009902 ! Cleft helix created_by: peter creation_date: 2011-12-18T06:01:45Z [Term] id: HP:0011261 name: Darwin tubercle of helix def: "Small expansion of the helical fold at the junction of the superior and descending portions of the helix." [pmid:19152421] synonym: "Helix, Darwin tubercle" EXACT [] xref: UMLS:C4021179 is_a: HP:0011039 ! Abnormality of the helix created_by: peter creation_date: 2011-12-18T06:02:42Z [Term] id: HP:0011262 name: Crimped helix def: "Linear, circumferential indentation in the convexity of the outer surface of the helix." [pmid:19152421] comment: The crimp is usually found in the middle third of the descending helix. The helix has the appearance of having been pinched or flattened along its posterior margin. The crimp may distort the free margin of the helix. synonym: "Helix, crimped" EXACT [] synonym: "Indented helix" EXACT [] xref: UMLS:C4021178 is_a: HP:0011039 ! Abnormality of the helix created_by: peter creation_date: 2011-12-18T06:19:33Z [Term] id: HP:0011263 name: Forward facing earlobe def: "Positioning of the anterior surface of the ear lobe in a more coronal plane than the remainder of the ear." [HPO:probinson, pmid:19152421] comment: The lobe should be viewed from the front. This feature is distinct from the situation where the entire ear is forward facing and prominent. The lobe normally lies more or less in the same plane as the remainder of the ear. This feature should be distinguished from Uplifted lobe. synonym: "Forward facing earlobe" EXACT layperson [] synonym: "Lobe, forward facing" EXACT layperson [] xref: UMLS:C4021177 is_a: HP:0000363 ! Abnormality of earlobe created_by: peter creation_date: 2011-12-18T06:50:34Z [Term] id: HP:0011264 name: Discontinuous ascending root of helix def: "Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid." [pmid:19152421] synonym: "Helix, discontinuous ascending root" EXACT [] xref: UMLS:C4021176 is_a: HP:0011039 ! Abnormality of the helix created_by: peter creation_date: 2011-12-18T07:31:00Z [Term] id: HP:0011265 name: Cleft earlobe def: "Discontinuity in the convexity of the inferior margin of the lobe." [pmid:19152421] comment: The cleft is often more visible if the lobe is pulled forward or when seen from behind. Tears acquired from earrings should be distinguished. subset: hposlim_core synonym: "Cleft earlobe" EXACT layperson [] xref: UMLS:C4023440 is_a: HP:0000363 ! Abnormality of earlobe created_by: peter creation_date: 2011-12-18T07:39:52Z [Term] id: HP:0011266 name: Microtia, first degree alt_id: HP:0000379 def: "Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean." [pmid:19152421] synonym: "First-degree microtia" EXACT [] xref: UMLS:C4021175 is_a: HP:0008551 ! Microtia created_by: peter creation_date: 2011-12-18T07:44:51Z [Term] id: HP:0011267 name: Microtia, third degree def: "Presence of some auricular structures, but none of these structures conform to recognized ear components." [pmid:19152421] comment: This malformation is commonly associated with atresia of the external canal, but that anomaly should be coded separately. Complete absence of the ear should be coded as Anotia. synonym: "Abnormal shape/structure of ear" BROAD layperson [ORCID:0000-0001-6908-9849] synonym: "Third-degree microtia" EXACT [] xref: UMLS:C4021174 xref: UMLS:C4280331 is_a: HP:0008551 ! Microtia created_by: peter creation_date: 2011-12-18T07:49:49Z [Term] id: HP:0011268 name: Absent tragus def: "Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix." [pmid:19152421] comment: This appears to be unusual in an otherwise normal ear, and is most often seen in microtia with atretic auditory meatus, but those findings should be coded separately. subset: hposlim_core xref: UMLS:C4023439 is_a: HP:0009913 ! Aplasia/Hypoplasia of the tragus created_by: peter creation_date: 2011-12-18T07:55:39Z [Term] id: HP:0011269 name: Bifid tragus def: "Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak." [pmid:19152421] synonym: "Notched tragus" EXACT layperson [] synonym: "Tragus, bifid" EXACT [] xref: UMLS:C4021173 is_a: HP:0009912 ! Abnormality of the tragus created_by: peter creation_date: 2011-12-18T07:56:56Z [Term] id: HP:0011270 name: Duplicated tragus def: "A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus." [pmid:19152421] comment: It is unclear how often, or even whether, this feature which would represent a duplication of mandibular components, occurs. More common occurrences in this region would include preauricular tags and pretragial duplications of hyoid origin. synonym: "Accesory tragus" EXACT [] synonym: "Tragus, duplicated" EXACT [] xref: UMLS:C4021172 is_a: HP:0009912 ! Abnormality of the tragus created_by: peter creation_date: 2011-12-18T07:58:04Z [Term] id: HP:0011271 name: Prominent tragus def: "Increase posterolateral protrusion of the tragus." [pmid:19152421] subset: hposlim_core synonym: "Enlarged tragus" EXACT [HPO:skoehler] synonym: "Hyperplastic tragus" EXACT [HPO:skoehler] synonym: "Hypertrophic tragus" EXACT [HPO:skoehler] synonym: "Large tragus" EXACT [HPO:skoehler] synonym: "Tragus, prominent" EXACT [HPO:skoehler] xref: UMLS:C4021171 is_a: HP:0009912 ! Abnormality of the tragus creation_date: 2011-12-18T07:59:22Z [Term] id: HP:0011272 name: Underdeveloped tragus def: "Decreased posterolateral protrusion of the tragus." [pmid:19152421] synonym: "Hypoplastic tragus" EXACT [] synonym: "Hypotrophic tragus" EXACT [] synonym: "Small tragus" EXACT [] xref: UMLS:C4013429 is_a: HP:0009913 ! Aplasia/Hypoplasia of the tragus created_by: peter creation_date: 2011-12-18T08:01:33Z [Term] id: HP:0011273 name: Anisocytosis def: "Abnormally increased variability in the size of erythrocytes." [HPO:probinson] synonym: "Unequal size of red blood cells" EXACT layperson [https://en.wikipedia.org/wiki/anisocytosis, ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:165475005 xref: SNOMEDCT_US:57241006 xref: UMLS:C0221278 is_a: HP:0001877 ! Abnormal erythrocyte morphology created_by: peter creation_date: 2011-12-28T11:58:24Z [Term] id: HP:0011274 name: Recurrent mycobacterial infections def: "Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection." [HPO:probinson] comment: Mycobacteria represent a family of slowly growing bacteria, including M. tuberculosis, the agent of tuberculosis, M. leprae, the agent of leprosy, M. avium complex species, and others. Mycobacteria infection can be asymptomatic or not, and are typically difficult to treat with antibiotics. xref: UMLS:C4023438 is_a: HP:0002718 ! Recurrent bacterial infections created_by: peter creation_date: 2011-12-28T12:11:54Z [Term] id: HP:0011275 name: Recurrent mycobacterium avium complex infections def: "Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection." [HPO:probinson] comment: Mycobacterium avium complex (MAC) is a group of species including M. avium, M. avium paratuberculosis, and others. Disseminated MAC infections can be seen associated with HIV infection. Pulmonary disease and cervical adenitis are other sequellae of MAC infection. xref: UMLS:C1737260 is_a: HP:0011274 ! Recurrent mycobacterial infections created_by: peter creation_date: 2011-12-28T12:16:46Z [Term] id: HP:0011276 name: Vascular skin abnormality synonym: "Skin vascular malformation" EXACT [] synonym: "Vascular abnormalities restricted to skin" RELATED [HPO:skoehler] xref: MSH:D017445 xref: SNOMEDCT_US:11263005 xref: UMLS:C0162819 xref: UMLS:C1842892 is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0011354 ! Generalized abnormality of skin created_by: peter creation_date: 2011-12-29T08:52:53Z [Term] id: HP:0011277 name: Abnormality of the urinary system physiology xref: UMLS:C4023437 is_a: HP:0000079 ! Abnormality of the urinary system created_by: peter creation_date: 2011-12-30T02:51:16Z [Term] id: HP:0011278 name: Intrapulmonary sequestration def: "A type of pulmonary sequestration that occurs within the visceral pleura of normal lung tissue, usually without communication with the tracheobronchial tree." [HPO:probinson] xref: UMLS:C4023436 is_a: HP:0100632 ! Pulmonary sequestration created_by: peter creation_date: 2011-12-31T07:43:28Z [Term] id: HP:0011279 name: Abnormality of urine bicarbonate concentration def: "An abnormality of the concentration of hydrogencarbonate in the urine." [HPO:probinson] synonym: "Abnormality of urine HCO3 concentration" EXACT HP:0045077 [] xref: UMLS:C4023435 is_a: HP:0003110 ! Abnormality of urine homeostasis created_by: peter creation_date: 2011-12-30T02:57:55Z [Term] id: HP:0011280 name: Abnormality of urine calcium concentration def: "An abnormality of calcium concentration in the urine." [HPO:probinson] synonym: "Abnormality of urine Ca concentration" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] synonym: "Abnormality of urine Ca2+ concentration" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] xref: UMLS:C4023434 is_a: HP:0012591 ! Abnormal urinary electrolyte concentration created_by: peter creation_date: 2011-12-30T03:27:02Z [Term] id: HP:0011281 name: Abnormality of urine catecholamine concentration def: "An abnormal level of urinary catecholamine concentration." [HPO:probinson] comment: Any anomaly in the urinary amount of catecholamines, including adrenaline, noradrenaline and L-dopamine. xref: MP:0011478 xref: UMLS:C4023433 is_a: HP:0003110 ! Abnormality of urine homeostasis created_by: peter creation_date: 2011-12-30T03:35:18Z [Term] id: HP:0011282 name: Abnormality of hindbrain morphology def: "An abnormality of the hindbrain, also known as the rhombencephalon." [HPO:probinson] comment: The hindbrain consists of two main structures: The pons and the cerebellum. synonym: "Abnormal shape of hindbrain" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the hindbrain" EXACT [] xref: UMLS:C4021170 is_a: HP:0012443 ! Abnormality of brain morphology created_by: peter creation_date: 2012-01-01T01:22:36Z [Term] id: HP:0011283 name: Abnormality of the metencephalon def: "An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum." [HPO:probinson] xref: UMLS:C4023432 is_a: HP:0011282 ! Abnormality of hindbrain morphology created_by: peter creation_date: 2012-01-01T01:24:14Z [Term] id: HP:0011284 name: Short-segment aganglionic megacolon def: "A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid." [HPO:probinson, pmid:17965226] xref: UMLS:C4023431 is_a: HP:0002251 ! Aganglionic megacolon created_by: peter creation_date: 2012-01-01T02:59:57Z [Term] id: HP:0011285 name: Long-segment aganglionic megacolon def: "A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid." [HPO:probinson] xref: UMLS:C4023430 is_a: HP:0002251 ! Aganglionic megacolon created_by: peter creation_date: 2012-01-01T03:02:49Z [Term] id: HP:0011286 name: Total colonic aganglionosis def: "A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon." [HPO:probinson] xref: MSH:D006627 xref: SNOMEDCT_US:253780003 xref: SNOMEDCT_US:360441005 xref: UMLS:C0085758 is_a: HP:0002251 ! Aganglionic megacolon created_by: peter creation_date: 2012-01-01T03:03:46Z [Term] id: HP:0011287 name: EEG with occipital sharp slow waves def: "EEG with sharp slow waves in the occipital region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO:jalbers] xref: UMLS:C4023429 is_a: HP:0011195 ! EEG with focal sharp slow waves created_by: peter creation_date: 2012-02-11T12:28:45Z [Term] id: HP:0011288 name: EEG with parietal sharp slow waves def: "EEG with sharp slow waves in the parietal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO:jalbers] xref: UMLS:C4023428 is_a: HP:0011195 ! EEG with focal sharp slow waves created_by: peter creation_date: 2012-02-11T12:29:59Z [Term] id: HP:0011289 name: EEG with temporal sharp slow waves def: "EEG with sharp slow waves in the temporal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO:jalbers] xref: UMLS:C4023427 is_a: HP:0011195 ! EEG with focal sharp slow waves created_by: peter creation_date: 2012-02-11T12:30:25Z [Term] id: HP:0011290 name: EEG with frontal sharp slow waves def: "EEG with sharp slow waves in the frontal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO:jalbers] xref: UMLS:C4023426 is_a: HP:0011195 ! EEG with focal sharp slow waves created_by: peter creation_date: 2012-02-11T12:30:41Z [Term] id: HP:0011291 name: EEG with central sharp slow waves def: "EEG with sharp slow waves in the central region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO:jalbers] xref: UMLS:C4023425 is_a: HP:0011195 ! EEG with focal sharp slow waves created_by: peter creation_date: 2012-02-11T12:31:02Z [Term] id: HP:0011292 name: EEG with occipital sharp waves def: "EEG with sharp waves in the occipital region, i.e., sharp transient waves of a duration between 80 and 200 msec." [HPO:jalbers] xref: UMLS:C2206521 is_a: HP:0011196 ! EEG with focal sharp waves created_by: peter creation_date: 2012-02-11T12:31:29Z [Term] id: HP:0011293 name: EEG with central sharp waves def: "EEG with sharp waves in the central region, i.e., sharp transient waves of a duration between 80 and 200 msec." [HPO:jalbers] xref: UMLS:C2207327 is_a: HP:0011196 ! EEG with focal sharp waves created_by: peter creation_date: 2012-02-11T12:32:48Z [Term] id: HP:0011294 name: EEG with frontal sharp waves def: "EEG with sharp waves in the frontal region, i.e., sharp transient waves of a duration between 80 and 200 msec." [HPO:jalbers] xref: UMLS:C2206518 is_a: HP:0011196 ! EEG with focal sharp waves created_by: peter creation_date: 2012-02-11T12:33:10Z [Term] id: HP:0011295 name: EEG with parietal sharp waves def: "EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec." [HPO:jalbers] xref: UMLS:C2206520 is_a: HP:0011196 ! EEG with focal sharp waves created_by: peter creation_date: 2012-02-11T12:33:29Z [Term] id: HP:0011296 name: EEG with temporal sharp waves def: "EEG with sharp waves in the temporal region, i.e., sharp transient waves of a duration between 80 and 200 msec." [HPO:jalbers] xref: UMLS:C2206519 is_a: HP:0011196 ! EEG with focal sharp waves created_by: peter creation_date: 2012-02-11T12:33:47Z [Term] id: HP:0011297 name: Abnormal digit morphology def: "A morphological abnormality of a digit, i.e., of a finger or toe." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of digit" EXACT [] synonym: "Abnormality of fingers or toes" EXACT layperson [] synonym: "Digital anomalies" EXACT [] xref: UMLS:C3550704 is_a: HP:0002813 ! Abnormality of limb bone morphology created_by: peter creation_date: 2012-02-11T07:16:22Z [Term] id: HP:0011298 name: Prominent digit pad def: "A soft tissue prominence of the ventral aspects of the fingertips or toe tips." [pmid:19125433] comment: The prominence of the finger or toe pads varies throughout life, being greater in neonates and dependent on the state of hydration. This term should not be used if the digit has clubbing. Note that the synonym "fetal fingertip pads" should not be interpreted to mean that the prominent pad necessarily was present in this individual since fetal life. We do not endorse the use of the term "Persistent fetal pads" as this term implies knowledge of the natural history of this finding, which may or may not be known. synonym: "Prominent digit pad" EXACT layperson [] xref: UMLS:C4023424 is_a: HP:0011356 ! Regional abnormality of skin created_by: peter creation_date: 2012-02-11T07:18:29Z [Term] id: HP:0011299 name: Partial absence of finger def: "The absence of a phalangeal segment of a finger." [pmid:19125433] comment: The part that is absent may be specified. The "distal" modifier specifies the loss of the distal phalanx; clinically this is defined by the absence of the nail. The "proximal" modifier specifies the loss of the proximal or middle phalanx with the nail still present and/or the radiographic finding of a remaining phalanx that is similar to a distal phalanx. It may be difficult to determine which phalanx is absent without x-rays and even then, there are circumstances where the missing bone may not be exactly identified (note that no attempt is made to distinguish missing middle from proximal phalanges). In this situation the location adjective will have to be removed. This finding is distinct from Short fingers. subset: hposlim_core synonym: "Partial absence of finger" EXACT layperson [] xref: UMLS:C4023423 is_a: HP:0005918 ! Abnormal finger phalanx morphology created_by: hecht creation_date: 2012-02-11T10:57:07Z [Term] id: HP:0011300 name: Broad fingertip def: "Increased width of the distal segment of a finger." [pmid:19125433] comment: This term should be reserved for use when the distal digit is significantly broader than the middle part. It should not be used if the digit has Clubbing or Macrodactyly or if the entire finger is broad. subset: hposlim_core synonym: "Broad fingertip" EXACT layperson [] synonym: "Broad fingertips" EXACT layperson [HPO:skoehler] xref: UMLS:C1968816 is_a: HP:0001211 ! Abnormal fingertip morphology created_by: hecht creation_date: 2012-02-11T11:18:08Z [Term] id: HP:0011301 name: Absent foot def: "The total absence of the foot, with no bony elements distal to the tibia or fibula." [pmid:19125433] subset: hposlim_core synonym: "Absent foot" EXACT layperson [] synonym: "Aplasia of the foot" EXACT [] synonym: "Apodia" EXACT [] xref: SNOMEDCT_US:371197005 xref: UMLS:C0265624 is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet created_by: hecht creation_date: 2012-02-11T11:20:59Z [Term] id: HP:0011302 name: Long palm alt_id: HP:0001502 def: "For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length." [pmid:19125433] subset: hposlim_core synonym: "Long palm" EXACT layperson [] xref: UMLS:C4023422 is_a: HP:0100871 ! Abnormality of the palm created_by: hecht creation_date: 2012-02-12T10:20:56Z [Term] id: HP:0011303 name: Convex contour of sole def: "The contour of the foot in lateral profile has a convex shape." [pmid:19125433] comment: This term was established as the convex contour may occur without the prominent heel, which together comprise the bundled term Rocker-bottom foot. xref: UMLS:C4023421 is_a: HP:0100872 ! Abnormality of the plantar skin of foot created_by: hecht creation_date: 2012-02-12T11:06:12Z [Term] id: HP:0011304 name: Broad thumb alt_id: HP:0001173 alt_id: HP:0001240 alt_id: HP:0004073 alt_id: HP:0009651 def: "Increased thumb width without increased dorso-ventral dimension." [pmid:19125433] comment: Note that this term should not be used for thumbs that meet the definition for Macrodactyly. subset: hposlim_core synonym: "Broad phalanges of the thumb" EXACT [] synonym: "Broad thumb" EXACT layperson [] synonym: "Broad thumbs" EXACT layperson [] synonym: "Wide/broad thumb" EXACT layperson [] synonym: "Wide/broad thumb phalanges" EXACT [] xref: SNOMEDCT_US:249773003 xref: UMLS:C0426891 is_a: HP:0009602 ! Abnormality of thumb phalanx is_a: HP:0009768 ! Broad phalanges of the hand created_by: hecht creation_date: 2012-02-12T11:15:31Z [Term] id: HP:0011305 name: Partial absence of toe def: "The absence of a phalangeal segment of a toe or hallux." [pmid:19125433] comment: The part that is absent may be specified. The "distal" modifier specifies the loss of the distal phalanx; clinically this is defined by the absence of the nail. The "proximal" modifier specifies the loss of the proximal or middle phalanx with the nail still present. It may be difficult to know which phalanx is absent without X-rays and even then, the missing bone may not be identified (note no attempt is made to distinguish missing middle from proximal phalanges). In this situation the location adjective should be removed. Note that this finding is distinct from Short toes, (which are reduced in length but have the normal number of phalangeal segments). Partial absence of the hallux is an alternative term that may be used for the first toe. synonym: "Hypophalangy of toes" EXACT [] synonym: "Partial absence of toe" EXACT layperson [] xref: UMLS:C4021169 is_a: HP:0010760 ! Absent toe created_by: hecht creation_date: 2012-02-12T12:20:32Z [Term] id: HP:0011307 name: Splayed toes def: "Divergence of digits along the anteroposterior axis (in the plane of the sole)." [pmid:19125433] synonym: "Splayed toes" EXACT layperson [] xref: UMLS:C2117390 is_a: HP:0001780 ! Abnormality of toe created_by: hecht creation_date: 2012-02-12T12:38:36Z [Term] id: HP:0011308 name: Slender toe alt_id: HP:0200091 def: "Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual." [pmid:19125433] synonym: "Narrow toe" EXACT layperson [] synonym: "Slender toe" EXACT layperson [] xref: UMLS:C4021168 is_a: HP:0001780 ! Abnormality of toe created_by: hecht creation_date: 2012-02-12T12:39:51Z [Term] id: HP:0011309 name: Tapered toe alt_id: HP:0008088 alt_id: HP:0200089 def: "The gradual reduction in girth of the toe from proximal to distal." [pmid:19125433] synonym: "Tapered toe" EXACT layperson [] synonym: "Tapering toes" EXACT layperson [] xref: UMLS:C4021167 is_a: HP:0001780 ! Abnormality of toe created_by: hecht creation_date: 2012-02-12T12:41:30Z [Term] id: HP:0011310 name: Bridged palmar crease def: "A crease that connects the proximal and distal transverse palmar creases." [pmid:19125433] comment: The crease that connects the two transverse creases should itself be more in the transverse (antero-posterior) than longitudinal (proximo-distal) orientation. synonym: "Bridged palm line" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Transitional palmar crease" EXACT [] xref: UMLS:C4021166 is_a: HP:0010490 ! Abnormality of the palmar creases created_by: hecht creation_date: 2012-02-12T12:56:40Z [Term] id: HP:0011311 name: Sydney crease def: "Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm." [pmid:19125433] comment: The proximal transverse (five finger) crease starts on the radial side of the hand near the base of the index finger and extends toward the ulnar side of the palm, but does not reach the ulnar side. In this finding, the crease extends completely to the ulnar margin of the palm. xref: UMLS:C4023420 is_a: HP:0010490 ! Abnormality of the palmar creases created_by: hecht creation_date: 2012-02-12T12:58:13Z [Term] id: HP:0011312 name: Fused nails def: "A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature." [pmid:19125433] comment: The use of the word "fused" is not meant to imply that pathogenetically these nails were separate and merged. This is distinct from a split or cleaved nail, where the two parts of the nails share the same radius of curvature. The involved digits should be specified. It may be associated with underlying syndactylous digits, but these are coded separately. synonym: "Fused nails" EXACT layperson [] xref: UMLS:C4023419 is_a: HP:0002164 ! Nail dysplasia created_by: hecht creation_date: 2012-02-12T01:12:22Z [Term] id: HP:0011313 name: Narrow nail alt_id: HP:0200076 def: "Decreased width of nail." [pmid:19125433] synonym: "Narrow nail" EXACT layperson [] xref: UMLS:C4021829 is_a: HP:0002164 ! Nail dysplasia created_by: hecht creation_date: 2012-02-12T01:33:34Z [Term] id: HP:0011314 name: Abnormality of long bone morphology alt_id: HP:0100713 alt_id: HP:0100714 alt_id: HP:0100715 def: "An abnormality of size or shape of the long bones." [HPO:probinson] synonym: "Abnormal shape of long bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the tubular bones" EXACT [] xref: UMLS:C4021165 is_a: HP:0011844 ! Abnormal appendicular skeleton morphology created_by: hecht creation_date: 2012-02-12T02:31:03Z [Term] id: HP:0011315 name: Unicoronal synostosis def: "Synostosis affecting only one of the coronal sutures." [DDD:awilkie] synonym: "Unilateral coronal craniosynostosis" RELATED [] synonym: "Unilateral coronal suture craniosynostosis" EXACT [ORCID:0000-0001-5889-4463] synonym: "Unilateral coronal suture synostosis" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4020756 xref: UMLS:C4023418 is_a: HP:0004440 ! Coronal craniosynostosis created_by: peter creation_date: 2012-02-25T01:08:28Z [Term] id: HP:0011316 name: Left unicoronal synostosis def: "Synostosis affecting only the left coronal suture." [DDD:awilkie] xref: UMLS:C4023417 is_a: HP:0011315 ! Unicoronal synostosis created_by: peter creation_date: 2012-02-25T01:10:32Z [Term] id: HP:0011317 name: Right unicoronal synostosis def: "Unicoronal synostosis affecting only the right coronal suture." [DDD:awilkie] xref: UMLS:C4023416 is_a: HP:0011315 ! Unicoronal synostosis created_by: peter creation_date: 2012-02-25T01:11:21Z [Term] id: HP:0011318 name: Bicoronal synostosis def: "Synostosis affecting the right and the left coronal suture." [DDD:awilkie] subset: hposlim_core synonym: "Bilateral coronal craniosynostosis" EXACT [ORCID:0000-0001-5889-4463] synonym: "Bilateral coronal suture craniosynostosis" EXACT [ORCID:0000-0001-5889-4463] synonym: "Bilateral coronal suture synostosis" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4021164 is_a: HP:0004440 ! Coronal craniosynostosis created_by: peter creation_date: 2012-02-25T01:11:41Z [Term] id: HP:0011319 name: Bilambdoid synostosis def: "Premature synostosis of both lambdoid sutures." [DDD:awilkie] subset: hposlim_core synonym: "Bilateral lambdoid craniosynostosis" EXACT [ORCID:0000-0001-5889-4463] synonym: "Bilateral lambdoid suture synostosis" EXACT [] xref: UMLS:C4021163 is_a: HP:0004443 ! Lambdoidal craniosynostosis created_by: peter creation_date: 2012-02-25T01:12:22Z [Term] id: HP:0011320 name: Unilambdoid synostosis def: "Premature synostosis of only one lambdoid suture." [DDD:awilkie] subset: hposlim_core synonym: "Unilateral lambdoid craniosynostosis" EXACT [ORCID:0000-0001-5889-4463] synonym: "Unilateral lambdoid suture synostosis" EXACT [] xref: UMLS:C4021162 is_a: HP:0004443 ! Lambdoidal craniosynostosis created_by: peter creation_date: 2012-02-25T01:13:20Z [Term] id: HP:0011321 name: Left unilambdoid synostosis def: "Premature synostosis of only the left lambdoid suture." [DDD:awilkie] xref: UMLS:C4023415 is_a: HP:0011320 ! Unilambdoid synostosis created_by: peter creation_date: 2012-02-25T01:13:46Z [Term] id: HP:0011322 name: Right unilambdoid synostosis def: "Premature synostosis of only the right lambdoid suture." [DDD:awilkie] xref: UMLS:C4023414 is_a: HP:0011320 ! Unilambdoid synostosis created_by: peter creation_date: 2012-02-25T01:14:34Z [Term] id: HP:0011323 name: Cleft of chin def: "Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin." [DDD:jclayton-smith] synonym: "Cleft of chin" EXACT layperson [] synonym: "Midline defect of chin" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1849227 is_a: HP:0000306 ! Abnormality of the chin created_by: peter creation_date: 2012-02-25T05:17:03Z [Term] id: HP:0011324 name: Multiple suture craniosynostosis def: "Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified." [DDD:awilkie] comment: If possible, it is preferable to annotate the precise pattern of involvement of the cranial sutures involved in craniosynostosis. This term may be chosen if more information is not available. synonym: "Multisutural craniosynostosis" EXACT [] xref: UMLS:C4021161 is_a: HP:0001363 ! Craniosynostosis created_by: peter creation_date: 2012-02-25T01:16:13Z [Term] id: HP:0011325 name: Pansynostosis def: "Craniosynostosis of all calvarial sutures." [DDD:awilkie] synonym: "Sysnostosis of all cranial sutures" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4021827 is_a: HP:0011324 ! Multiple suture craniosynostosis created_by: peter creation_date: 2012-02-25T01:27:38Z [Term] id: HP:0011326 name: Anterior plagiocephaly def: "Asymmetry of the anterior part of the skull." [DDD:awilkie] comment: Anterior plagiocephaly may have synostotic or non-synostotic causes. synonym: "Anterior flat head syndrome" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Coronal synostosis" RELATED [ORCID:0000-0001-5889-4463] synonym: "Deformational anterior plagiocephaly" NARROW [ORCID:0000-0001-5889-4463] synonym: "Deformational frontal plagiocephaly" EXACT [HPO:skoehler] synonym: "Frontal plagiocephaly" EXACT [ORCID:0000-0001-5889-4463] synonym: "Positional anterior plagiocephaly" NARROW [ORCID:0000-0001-5889-4463] synonym: "Positional frontal plagiocephaly" NARROW [ORCID:0000-0001-5889-4463] synonym: "Unicoronal craniosynostosis" RELATED [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:254020001 xref: UMLS:C0432124 xref: UMLS:C4023413 xref: UMLS:C4280328 xref: UMLS:C4280329 xref: UMLS:C4280330 is_a: HP:0001357 ! Plagiocephaly created_by: peter creation_date: 2012-02-25T02:10:41Z [Term] id: HP:0011327 name: Posterior plagiocephaly def: "Asymmetry of the posterior part of the skull." [DDD:awilkie, pmid:10876272] comment: Anterior plagiocephaly may have synostotic or non-synostotic causes. synonym: "Deformational posterior plagiocephaly" EXACT [HPO:skoehler] synonym: "Occipital plagiocephaly" EXACT [] xref: UMLS:C4021160 is_a: HP:0001357 ! Plagiocephaly created_by: peter creation_date: 2012-02-25T02:11:33Z [Term] id: HP:0011328 name: Abnormality of fontanelles def: "An abnormality of the fontanelle." [HPO:probinson, pmid:12825844] comment: The fontanelles are the regions in an infant's calvaria that are covered by a thick membrane that normally ossify in the first two years of life. subset: hposlim_core synonym: "Anomaly of the fontanelles" RELATED [] xref: UMLS:C4020755 is_a: HP:0000235 ! Abnormality of the fontanelles or cranial sutures created_by: peter creation_date: 2012-02-25T02:34:36Z [Term] id: HP:0011329 name: Abnormality of cranial sutures def: "Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant." [HPO:probinson] synonym: "Abnormality of cranial sutures" EXACT layperson [] synonym: "Abnormality of the bregma sutures" EXACT [] synonym: "Abnormality of the calvarium sutures" EXACT [] synonym: "Abnormality of the cranial sutures" EXACT [] synonym: "Abnormality of the skull suture" EXACT [] xref: UMLS:C4023412 is_a: HP:0000235 ! Abnormality of the fontanelles or cranial sutures created_by: peter creation_date: 2012-02-25T03:33:56Z [Term] id: HP:0011330 name: Metopic synostosis def: "Premature fusion of the metopic suture." [DDD:awilkie] subset: hposlim_core synonym: "Metopic craniosynostosis" EXACT [ORCID:0000-0001-5889-4463] synonym: "Metopic suture craniosynostosis" EXACT [] xref: MSH:C562951 xref: MSH:D003398 xref: SNOMEDCT_US:109409003 xref: UMLS:C0432122 xref: UMLS:C1860819 is_a: HP:0005556 ! Abnormality of the metopic suture created_by: peter creation_date: 2012-02-25T03:52:01Z [Term] id: HP:0011331 name: Hemifacial atrophy def: "Unilateral atrophy of facial tissues, including muscles, bones and skin." [DDD:awilkie] subset: hposlim_core synonym: "Atrophy of half of face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Atrophy of one side of the face" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decrease in size of half of face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decrease in size of one side of the face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Facial hemiatrophy" EXACT [ORCID:0000-0001-5889-4463] synonym: "Shrinking of half of face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Shrinking of one side of the face" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D005150 xref: SNOMEDCT_US:718224004 xref: SNOMEDCT_US:95834000 xref: UMLS:C0015458 is_a: HP:0000324 ! Facial asymmetry created_by: peter creation_date: 2012-02-25T05:04:56Z [Term] id: HP:0011332 name: Hemifacial hypoplasia def: "Unilateral underdevelopment of the facial tissues, including muscles and bones." [DDD:awilkie] synonym: "Decreased size of half of the face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased size of one side of the face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Hemifacial microsomia" RELATED [] xref: MSH:D006053 xref: SNOMEDCT_US:254025006 xref: UMLS:C3495417 xref: UMLS:C4023411 is_a: HP:0000324 ! Facial asymmetry created_by: peter creation_date: 2012-02-25T05:05:45Z [Term] id: HP:0011333 name: Asymmetric crying face def: "Asymmetry observed in the face of a neonate or infant whose face appears symmetric at rest and asymmetric during crying as the mouth is pulled downward on one side while not moving on the other side." [HPO:cwright] comment: Asymmetric crying facies is caused by underdevelopment of the depressor anguli oris muscle or compression of one of the branches of the facial nerve. synonym: "Asymmetric crying face" EXACT layperson [] synonym: "Hypoplasia of depressor angula oris muscle" RELATED [ORCID:0000-0001-5889-4463] synonym: "Partial unilateral facial paresis" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:C535349 xref: SNOMEDCT_US:51409009 xref: UMLS:C0431406 xref: UMLS:C4280327 is_a: HP:0000324 ! Facial asymmetry created_by: peter creation_date: 2012-02-25T05:07:01Z [Term] id: HP:0011334 name: Facial shape deformation synonym: "Distortion of facial shape" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Facial shape compression" EXACT [] synonym: "Facial shape deformation" EXACT layperson [] xref: UMLS:C4021159 is_a: HP:0001999 ! Abnormal facial shape created_by: peter creation_date: 2012-02-25T05:10:19Z [Term] id: HP:0011335 name: Frontal hirsutism def: "Excessive amount of hair growth on forehead." [DDD:jclayton-smith] synonym: "Hairy forehead" EXACT layperson [] synonym: "Hirsute forehead" EXACT [] xref: UMLS:C1839830 is_a: HP:0000290 ! Abnormality of the forehead is_a: HP:0009937 ! Facial hirsutism created_by: peter creation_date: 2012-02-25T05:21:59Z [Term] id: HP:0011336 name: Bitemporal forceps marks def: "Bilateral temporal scarlike defects, which are said to resemble forceps marks." [DDD:jclayton-smith] synonym: "Temporal skin defect" RELATED [] xref: UMLS:C4020754 xref: UMLS:C4023409 is_a: HP:0000606 ! Abnormality of the periorbital region created_by: peter creation_date: 2012-02-25T05:25:36Z [Term] id: HP:0011337 name: Abnormality of mouth size synonym: "Abnormality of mouth size" EXACT layperson [] synonym: "Anomaly of mouth size" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023408 is_a: HP:0000163 ! Abnormal oral cavity morphology created_by: peter creation_date: 2012-02-26T11:00:17Z [Term] id: HP:0011338 name: Abnormality of mouth shape def: "An abnormality of the outline, configuration, or contour of the mouth." [DDD:jhurst] synonym: "Abnormality of mouth shape" EXACT layperson [] synonym: "Anomaly of mouth shape" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Unusual mouth shape" NARROW layperson [ORCID:0000-0001-5889-4463] xref: Fyler:4874 xref: UMLS:C4023407 is_a: HP:0000163 ! Abnormal oral cavity morphology created_by: peter creation_date: 2012-02-26T01:05:23Z [Term] id: HP:0011339 name: Abnormality of upper lip vermillion def: "An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin." [HPO:probinson] synonym: "Abnormality of the red part of the upper lip" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Anomaly of the upper lip vermillion" NARROW [ORCID:0000-0001-5889-4463] synonym: "Deformity of the upper lip vermillion" NARROW [ORCID:0000-0001-5889-4463] synonym: "Malformation of the upper lip vermillion" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4023406 is_a: HP:0000177 ! Abnormality of upper lip created_by: peter creation_date: 2012-02-26T01:32:28Z [Term] id: HP:0011340 name: Incomplete cleft of the upper lip def: "A subtle unilateral cleft of the upper lip, which may appear as a small indentation." [DDD:jclayton-smith] synonym: "Forme fruste unilateral cleft lip" EXACT [] synonym: "Incomplete cheiloschisis" EXACT [ORCID:0000-0001-5889-4463] synonym: "Incomplete cleft of the upper lip" EXACT layperson [] synonym: "Notched cleft of the upper lip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Partial cleft of the upper lip" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021158 is_a: HP:0000204 ! Cleft upper lip created_by: peter creation_date: 2012-02-26T01:55:36Z [Term] id: HP:0011341 name: Long upper lip def: "Increased width of the upper lip." [DDD:jhurst] synonym: "Elongation of upper lip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased height of upper lip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased vertical length of upper lip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Long upper lip" EXACT layperson [] xref: UMLS:C3151495 is_a: HP:0000177 ! Abnormality of upper lip created_by: peter creation_date: 2012-02-26T01:58:08Z [Term] id: HP:0011342 name: Mild global developmental delay def: "A mild delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth] synonym: "Global developmental delay, mild" EXACT [] synonym: "Psychomotor retardation, mild" RELATED [ORCID:0000-0001-5208-3432] xref: UMLS:C2229182 xref: UMLS:C4012968 is_a: HP:0001263 ! Global developmental delay created_by: peter creation_date: 2012-02-29T11:19:49Z [Term] id: HP:0011343 name: Moderate global developmental delay def: "A moderate delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth] synonym: "Global developmental delay, moderate" EXACT [] synonym: "Psychomotor retardation, moderate" RELATED [HPO:skoehler] xref: UMLS:C2237142 is_a: HP:0001263 ! Global developmental delay created_by: peter creation_date: 2012-02-29T11:20:28Z [Term] id: HP:0011344 name: Severe global developmental delay def: "A severe delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth] synonym: "Global developmental delay, severe" EXACT [] synonym: "Severe psychomotor retardation" RELATED [HPO:skoehler] xref: UMLS:C1837397 xref: UMLS:C1854919 is_a: HP:0001263 ! Global developmental delay created_by: peter creation_date: 2012-02-29T11:20:45Z [Term] id: HP:0011345 name: Moderate expressive language delay def: "A moderate delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts." [DDD:hvfirth] xref: SNOMEDCT_US:62211000119103 xref: UMLS:C3532933 is_a: HP:0002474 ! Expressive language delay created_by: peter creation_date: 2012-03-01T08:45:49Z [Term] id: HP:0011346 name: Mild expressive language delay def: "A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts." [DDD:hvfirth] xref: SNOMEDCT_US:62231000119108 xref: UMLS:C3532934 is_a: HP:0002474 ! Expressive language delay created_by: peter creation_date: 2012-03-01T08:46:23Z [Term] id: HP:0011347 name: Abnormality of ocular abduction def: "An abnormality involving the movement of the eye outwards." [HPO:probinson] xref: UMLS:C4023405 is_a: HP:0000496 ! Abnormality of eye movement created_by: peter creation_date: 2012-03-01T10:18:05Z [Term] id: HP:0011348 name: Abnormality of the sixth cranial nerve def: "An abnormality of the abducens nerve." [HPO:probinson] comment: The abducens nerve (also known as the sixth cranial nerve or cranioal nerve VI) controls the movement of the lateral rectus muscle of the eye, which moves the eyeball in the outward direction (towards the side of the head). xref: UMLS:C4023404 is_a: HP:0001291 ! Abnormal cranial nerve morphology created_by: peter creation_date: 2012-03-01T10:20:44Z [Term] id: HP:0011349 name: Abducens palsy def: "Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward." [HPO:probinson] comment: Affected individuals may experience diplopia as well as esotropia or convergent strabismus. synonym: "Sixth nerve palsy" EXACT [ORCID:0000-0001-5208-3432] xref: MSH:C564661 xref: MSH:D020434 xref: SNOMEDCT_US:398760006 xref: SNOMEDCT_US:398925009 xref: SNOMEDCT_US:398963001 xref: UMLS:C0271355 is_a: HP:0011348 ! Abnormality of the sixth cranial nerve created_by: peter creation_date: 2012-03-01T10:30:20Z [Term] id: HP:0011350 name: Mild receptive language delay def: "A mild delay in the acquisition of the ability to understand the speech of others." [DDD:hvfirth] xref: SNOMEDCT_US:89501000119108 xref: UMLS:C3532948 is_a: HP:0010863 ! Receptive language delay created_by: peter creation_date: 2012-03-01T10:52:40Z [Term] id: HP:0011351 name: Moderate receptive language delay def: "A moderate delay in the acquisition of the ability to understand the speech of others." [DDD:hvfirth] xref: SNOMEDCT_US:89381000119107 xref: UMLS:C3532946 is_a: HP:0010863 ! Receptive language delay created_by: peter creation_date: 2012-03-01T10:53:13Z [Term] id: HP:0011352 name: Severe receptive language delay def: "A severe delay in the acquisition of the ability to understand the speech of others." [DDD:hvfirth] xref: SNOMEDCT_US:89391000119105 xref: UMLS:C3532947 is_a: HP:0010863 ! Receptive language delay created_by: peter creation_date: 2012-03-01T10:53:30Z [Term] id: HP:0011353 name: Arterial intimal fibrosis def: "Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries." [HPO:probinson] synonym: "Intimal fibrosis" RELATED [] xref: UMLS:C4020753 xref: UMLS:C4023403 is_a: HP:0011004 ! Abnormal systemic arterial morphology created_by: peter creation_date: 2012-03-01T01:05:59Z [Term] id: HP:0011354 name: Generalized abnormality of skin def: "An abnormality of the skin that is not localized to any one particular region." [DDD:cmoss] synonym: "Generalised abnormality of skin" EXACT layperson [] synonym: "Generalized abnormality of skin" EXACT layperson [] xref: UMLS:C4021157 is_a: HP:0011121 ! Abnormality of skin morphology created_by: peter creation_date: 2012-03-01T01:55:07Z [Term] id: HP:0011355 name: Localized skin lesion def: "A lesion of the skin that is located in a specific region rather than being generalized." [DDD:cmoss] synonym: "Localized skin lesion" EXACT layperson [] xref: UMLS:C0850826 is_a: HP:0011121 ! Abnormality of skin morphology created_by: peter creation_date: 2012-03-01T02:37:43Z [Term] id: HP:0011356 name: Regional abnormality of skin def: "An abnormality of the skin that is restricted to a particular body region." [DDD:cmoss] xref: UMLS:C4023402 is_a: HP:0011121 ! Abnormality of skin morphology created_by: peter creation_date: 2012-03-01T02:39:14Z [Term] id: HP:0011357 name: Abnormality of hair density def: "An abnormality of the density of hair growth." [DDD:cmoss] synonym: "Abnormality of hair density" EXACT layperson [] xref: UMLS:C4023401 is_a: HP:0001595 ! Abnormal hair morphology created_by: peter creation_date: 2012-03-01T02:51:40Z [Term] id: HP:0011358 name: Generalized hypopigmentation of hair def: "Reduced pigmentation of hair diffusely." [DDD:cmoss] xref: UMLS:C4023400 is_a: HP:0005599 ! Hypopigmentation of hair created_by: peter creation_date: 2012-03-01T03:32:59Z [Term] id: HP:0011359 name: Dry hair alt_id: HP:0200077 alt_id: HP:0200079 alt_id: HP:0200080 def: "Hair that lacks the lustre (shine or gleam) of normal hair." [DDD:cmoss] synonym: "Dry hair" EXACT layperson [] xref: SNOMEDCT_US:79395009 xref: UMLS:C0277960 is_a: HP:0010719 ! Abnormality of hair texture created_by: peter creation_date: 2012-03-01T04:24:09Z [Term] id: HP:0011360 name: Acquired abnormal hair pattern def: "An abnormality of the distribution of hair growth that is acquired during the course of life." [DDD:cmoss] synonym: "Acquired abnormal hair pattern" EXACT layperson [] xref: UMLS:C4023399 is_a: HP:0010720 ! Abnormal hair pattern created_by: peter creation_date: 2012-03-01T08:36:23Z [Term] id: HP:0011361 name: Congenital abnormal hair pattern def: "A congenital abnormality of the distribution of hair growth." [DDD:cmoss] synonym: "Abnormal hair pattern since birth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023398 is_a: HP:0010720 ! Abnormal hair pattern created_by: peter creation_date: 2012-03-01T08:39:51Z [Term] id: HP:0011362 name: Abnormal hair quantity alt_id: HP:0002115 def: "An abnormal amount of hair." [DDD:cmoss] synonym: "Abnormal hair quantity" EXACT layperson [] xref: UMLS:C4023397 is_a: HP:0001595 ! Abnormal hair morphology created_by: peter creation_date: 2012-03-01T08:46:57Z [Term] id: HP:0011363 name: Abnormality of hair growth rate def: "Hair whose growth rate deviates from the norm." [DDD:cmoss] comment: Hair growth rate is normally about 1.25 centimeters per month. synonym: "Abnormality of hair growth rate" EXACT layperson [] synonym: "Abnormality of pace of hair growth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of speed of hair growth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023396 is_a: HP:0040170 ! Abnormality of hair growth created_by: peter creation_date: 2012-03-01T09:46:36Z [Term] id: HP:0011364 name: White hair def: "Hypopigmented hair that appears white." [DDD:cmoss] synonym: "White hair" EXACT layperson [] xref: SNOMEDCT_US:297993006 xref: UMLS:C0239804 is_a: HP:0011358 ! Generalized hypopigmentation of hair created_by: peter creation_date: 2012-03-01T09:50:48Z [Term] id: HP:0011365 name: Patchy hypopigmentation of hair def: "Reduced pigmentation of hair in patches." [DDD:cmoss] xref: UMLS:C4023395 is_a: HP:0005599 ! Hypopigmentation of hair created_by: peter creation_date: 2012-03-01T09:52:58Z [Term] id: HP:0011367 name: Yellow nails def: "Yellowish discoloration of the nails." [DDD:cmoss] synonym: "Yellow nails" EXACT layperson [] xref: SNOMEDCT_US:45342007 xref: UMLS:C1768507 is_a: HP:0100643 ! Abnormality of nail color created_by: peter creation_date: 2012-03-03T12:08:12Z [Term] id: HP:0011368 name: Epidermal thickening alt_id: HP:0001035 def: "Thickening of the epidermal layer of the skin." [HPO:probinson] synonym: "Abnormality of keratinization" RELATED [] xref: UMLS:C0494876 xref: UMLS:C4020752 is_a: HP:0001072 ! Thickened skin created_by: peter creation_date: 2012-03-03T12:25:18Z [Term] id: HP:0011369 name: Mongolian blue spot def: "Congenital deep dermal melanosis in the sacral area." [DDD:cmoss] xref: MSH:D049328 xref: SNOMEDCT_US:40467008 xref: UMLS:C0265985 is_a: HP:0001034 ! Hypermelanotic macule created_by: peter creation_date: 2012-03-03T03:34:48Z [Term] id: HP:0011370 name: Recurrent cutaneous fungal infections def: "Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections." [] xref: UMLS:C4023394 is_a: HP:0001581 ! Recurrent skin infections is_a: HP:0002841 ! Recurrent fungal infections created_by: peter creation_date: 2012-03-03T10:34:52Z [Term] id: HP:0011371 name: Recurrent viral skin infections def: "Increased susceptibility to viral skin infections, as manifested by recurrent episodes of viral skin infections." [] synonym: "Recurrent viral skin infections" EXACT layperson [] xref: UMLS:C4023393 is_a: HP:0001581 ! Recurrent skin infections is_a: HP:0004429 ! Recurrent viral infections created_by: peter creation_date: 2012-03-03T10:36:20Z [Term] id: HP:0011372 name: Aplasia of the inner ear def: "Absence of the inner ear due to a developmental defect." [DDD:dfitzpatrick] comment: Aplasia of the inner ear is usually diagnosed on MR or CT imaging. synonym: "Absent inner ear" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia of the labyrinth" EXACT [] synonym: "Labyrinthine aplasia" EXACT [] synonym: "Michel deformity" EXACT [] xref: SNOMEDCT_US:71973003 xref: UMLS:C0266604 is_a: HP:0008774 ! Aplasia/Hypoplasia of the inner ear created_by: peter creation_date: 2012-03-07T08:23:52Z [Term] id: HP:0011373 name: Incomplete partition of the cochlea def: "Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema." [HPO:probinson] xref: UMLS:C4023392 is_a: HP:0008554 ! Cochlear malformation created_by: peter creation_date: 2012-03-07T08:24:55Z [Term] id: HP:0011374 name: Incomplete partition of the cochlea type I def: "Incomplete partition I is also known as cystic cochleovestibular malformation, where the cochlea has no bony modiolus, resulting in an empty cystic cochlea. This is accompanied by a dilated cystic vestibule with developmental arrest at the fifth week of gestation." [DDD:mbitner-glidicz, PMID:21849370] xref: UMLS:C4023391 is_a: HP:0011373 ! Incomplete partition of the cochlea created_by: peter creation_date: 2012-03-07T08:26:25Z [Term] id: HP:0011375 name: Cochlear aplasia def: "Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect." [HPO:dfitzpatrick] synonym: "Absent cochlea" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4023390 is_a: HP:0011395 ! Aplasia/Hypoplasia of the cochlea created_by: peter creation_date: 2012-03-07T08:31:27Z [Term] id: HP:0011376 name: Morphological abnormality of the vestibule of the inner ear def: "A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals." [DDD:mbitner-glidicz] comment: The vestibular system consists of five distinct components, three semicircular canals that are sensitive to angular acceleration\nand two otolith organs that are sensitive to linear acceleration. synonym: "Vestibular abnormality" EXACT [] xref: UMLS:C0542259 is_a: HP:0011390 ! Morphological abnormality of the inner ear created_by: peter creation_date: 2012-03-07T08:35:08Z [Term] id: HP:0011377 name: Aplasia of the vestibule def: "Complete absence of the vestibule of the inner ear." [DDD:dfitzpatrick] synonym: "Absent vestibule" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4023389 is_a: HP:0011376 ! Morphological abnormality of the vestibule of the inner ear created_by: peter creation_date: 2012-03-07T08:37:27Z [Term] id: HP:0011378 name: Hypoplasia of the vestibule of the inner ear def: "Underdevelopment of the vestibule of the inner ear." [DDD:mbitner-glidicz] xref: UMLS:C4023388 is_a: HP:0011376 ! Morphological abnormality of the vestibule of the inner ear created_by: peter creation_date: 2012-03-09T07:06:20Z [Term] id: HP:0011379 name: Dilated vestibule of the inner ear def: "Dilatation of the vestibule of the inner ear." [DDD:mbitner-glidicz] xref: UMLS:C4023387 is_a: HP:0011376 ! Morphological abnormality of the vestibule of the inner ear created_by: peter creation_date: 2012-03-09T07:07:38Z [Term] id: HP:0011380 name: Morphological abnormality of the semicircular canal def: "An abnormality of the morphology of the semicircular canal." [DDD:dfitzpatrick] xref: UMLS:C4023386 is_a: HP:0011376 ! Morphological abnormality of the vestibule of the inner ear created_by: peter creation_date: 2012-03-09T07:12:21Z [Term] id: HP:0011381 name: Aplasia of the semicircular canal def: "Absence of the semicircular canal." [DDD:dfitzpatrick] synonym: "Absent semicircular canal" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4023385 is_a: HP:0011380 ! Morphological abnormality of the semicircular canal created_by: peter creation_date: 2012-03-09T07:14:57Z [Term] id: HP:0011382 name: Hypoplasia of the semicircular canal def: "Underdevelopment of the semicircular canal." [DDD:dfitzpatrick] synonym: "Hypoplasia of the semicircular canals" RELATED [HPO:skoehler] synonym: "Small semicircular canal" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C3552156 is_a: HP:0011380 ! Morphological abnormality of the semicircular canal created_by: peter creation_date: 2012-03-09T07:15:47Z [Term] id: HP:0011383 name: Enlarged semicircular canal def: "Increased size of the semicircular canal." [DDD:dfitzpatrick] synonym: "Dilated semicircular canal" EXACT [] xref: UMLS:C4021156 is_a: HP:0011380 ! Morphological abnormality of the semicircular canal created_by: peter creation_date: 2012-03-09T07:16:58Z [Term] id: HP:0011384 name: Abnormality of the internal auditory canal def: "An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse." [DDD:mbitner-glidicz] synonym: "Abnormality of the internal acoustic meatus" EXACT [] xref: UMLS:C4021155 is_a: HP:0011390 ! Morphological abnormality of the inner ear created_by: peter creation_date: 2012-03-09T07:26:47Z [Term] id: HP:0011385 name: Absent internal auditory canal def: "Aplasia of the internal auditory canal." [DDD:dfitzpatrick] xref: UMLS:C4023384 is_a: HP:0011384 ! Abnormality of the internal auditory canal created_by: peter creation_date: 2012-03-09T07:33:46Z [Term] id: HP:0011386 name: Narrow internal auditory canal def: "Reduction in diameter of the internal auditory canal." [DDD:dfitzpatrick] xref: UMLS:C4023383 is_a: HP:0011384 ! Abnormality of the internal auditory canal created_by: peter creation_date: 2012-03-09T07:35:00Z [Term] id: HP:0011387 name: Enlarged vestibular aqueduct def: "Increased size of the vestibular aqueduct." [DDD:mbitner-glidicz] comment: Enlarged vestibular aqueduct is commonly seen in Pendred syndrome. synonym: "Dilated vestibular aqueduct" EXACT [] synonym: "Widened vestibular aqueduct" EXACT [] xref: MSH:C566366 xref: UMLS:C1863752 is_a: HP:0011376 ! Morphological abnormality of the vestibule of the inner ear created_by: peter creation_date: 2012-03-09T07:38:34Z [Term] id: HP:0011388 name: Enlarged cochlear aqueduct def: "Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular." [DDD:dfitzpatrick] comment: The cochlear aqueduct surrounds the perilymphatic (periotic duct). Enlargement of the cochlear aqueduct may be seen in POU3F4 X-linked deafness with Gusher. synonym: "Dilated cochlear aqueduct" EXACT [] xref: UMLS:C4021154 is_a: HP:0000375 ! Abnormal cochlea morphology created_by: peter creation_date: 2012-03-09T07:41:47Z [Term] id: HP:0011389 name: Functional abnormality of the inner ear def: "An abnormality of the function of the inner ear." [DDD:dfitzpatrick] comment: The inner ear comprises the cochlea, three semicircular canals and the vestibule (labyrinth), and is directly responsible for hearing. Additionally, the vestibule and semicircular canals function to maintain balance or equilibrium. synonym: "Functional abnormality of the inner ear" EXACT layperson [] xref: UMLS:C4023382 is_a: HP:0000359 ! Abnormality of the inner ear created_by: hecht creation_date: 2012-03-09T04:58:30Z [Term] id: HP:0011390 name: Morphological abnormality of the inner ear def: "A structural anomaly of the internal part of the ear." [HPO:probinson] comment: The inner ear contains the cochlea and the semicircular canals. xref: UMLS:C4023381 is_a: HP:0000359 ! Abnormality of the inner ear created_by: hecht creation_date: 2012-03-09T04:59:24Z [Term] id: HP:0011391 name: Morphological abnormality of the nerves of the inner ear xref: UMLS:C4023380 is_a: HP:0011390 ! Morphological abnormality of the inner ear created_by: hecht creation_date: 2012-03-09T05:03:30Z [Term] id: HP:0011392 name: Abnormality of the vestibular nerve xref: UMLS:C4023379 is_a: HP:0011391 ! Morphological abnormality of the nerves of the inner ear created_by: hecht creation_date: 2012-03-09T05:03:47Z [Term] id: HP:0011393 name: Aplasia of the vestibular nerve. def: "Absence of the vestibular nerve" [DDD:mbitner-glidicz] comment: May be seen in CHARGE syndrome. synonym: "Absent cranial nerve viii" EXACT [ORCID:0000-0001-5208-3432] synonym: "Absent the eighth cranial nerve" EXACT [ORCID:0000-0001-5208-3432] synonym: "Absent vestribular nerve" EXACT [ORCID:0000-0001-5208-3432] synonym: "Aplasia of cranial nerve VIII" RELATED [] synonym: "Aplasia of the eighth cranial nerve" EXACT [] xref: UMLS:C4020751 xref: UMLS:C4021153 is_a: HP:0011392 ! Abnormality of the vestibular nerve created_by: hecht creation_date: 2012-03-09T05:08:14Z [Term] id: HP:0011394 name: Hypoplasia of the vestibular nerve def: "Underdevelopment of the vestibular nerve." [DDD:dfitzpatrick] synonym: "Hypoplasia of cranial nerve VIII" RELATED [] synonym: "Hypoplasia of the eighth cranial nerve" EXACT [] synonym: "Thin vestibular nerve" EXACT [] xref: UMLS:C4020750 is_a: HP:0011392 ! Abnormality of the vestibular nerve created_by: hecht creation_date: 2012-03-09T05:14:35Z [Term] id: HP:0011395 name: Aplasia/Hypoplasia of the cochlea def: "Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect." [HPO:probinson] synonym: "Absent/small cochlea" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped cochlea" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023378 is_a: HP:0000375 ! Abnormal cochlea morphology is_a: HP:0008774 ! Aplasia/Hypoplasia of the inner ear created_by: hecht creation_date: 2012-03-09T05:37:50Z [Term] id: HP:0011396 name: Abnormality of the cochlear nerve xref: UMLS:C4023377 is_a: HP:0011391 ! Morphological abnormality of the nerves of the inner ear created_by: hecht creation_date: 2012-03-09T05:39:04Z [Term] id: HP:0011397 name: Abnormality of the dorsal column of the spinal cord def: "An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus." [HPO:probinson] comment: The dorsal column represents an ascending pathway mediating well-localized fine touch and conscious proprioception. xref: UMLS:C4023376 is_a: HP:0002143 ! Abnormality of the spinal cord created_by: peter creation_date: 2012-03-12T07:39:12Z [Term] id: HP:0011398 name: Central hypotonia def: "Reduced muscle tone secondary to an abnormality of the central nervous system." [DDD:fmuntoni] xref: UMLS:C1842364 is_a: HP:0003808 ! Abnormal muscle tone is_a: HP:0011442 ! Abnormality of central motor function created_by: peter creation_date: 2012-03-12T04:39:51Z [Term] id: HP:0011399 name: Tibialis atrophy def: "Atrophy of the tibialis muscle." [HPO:probinson] synonym: "Tibialis muscle degeneration" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4023375 is_a: HP:0008944 ! Distal lower limb amyotrophy created_by: peter creation_date: 2012-03-12T06:15:40Z [Term] id: HP:0011400 name: Abnormal CNS myelination alt_id: HP:0002520 alt_id: HP:0004335 def: "An abnormality of myelination of nerves in the central nervous system." [DDD:fmuntoni] comment: In the CNS, myelin is the product of oligodendrocytes (and not of Schwann cells, as in the PNS). This term refers to an abnormality of the process in which myelin sheaths are formed and maintained around neurons or the result of such an abnormality. synonym: "Abnormal formation of myelin sheaths" EXACT [] xref: UMLS:C4021152 is_a: HP:0002011 ! Morphological abnormality of the central nervous system is_a: HP:0012447 ! Abnormal myelination created_by: peter creation_date: 2012-03-12T07:24:42Z [Term] id: HP:0011401 name: Delayed peripheral myelination def: "Delayed myelination in the peripheral nervous system." [HPO:probinson] xref: UMLS:C4023374 is_a: HP:0003130 ! Abnormal peripheral myelination is_a: HP:0012448 ! Delayed myelination created_by: peter creation_date: 2012-03-12T08:08:41Z [Term] id: HP:0011402 name: Demyelinating sensory neuropathy def: "Demyelination of peripheral sensory nerves." [HPO:probinson] xref: UMLS:C4023373 is_a: HP:0007108 ! Demyelinating peripheral neuropathy created_by: peter creation_date: 2012-03-12T08:28:12Z [Term] id: HP:0011403 name: Abnormal umbilical cord blood vessels xref: UMLS:C4023372 is_a: HP:0010881 ! Abnormality of the umbilical cord created_by: peter creation_date: 2012-03-15T11:05:13Z [Term] id: HP:0011404 name: Lethal short-trunk short stature def: "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth." [HPO:probinson] synonym: "Lethal short-trunk dwarfism" EXACT [] xref: UMLS:C4021151 is_a: HP:0003521 ! Disproportionate short-trunk short stature created_by: peter creation_date: 2012-03-15T09:38:44Z [Term] id: HP:0011405 name: Childhood onset short-limb short stature alt_id: HP:0003523 synonym: "Short-limb dwarfism identifiable during childhood" EXACT [] xref: UMLS:C1867487 is_a: HP:0008873 ! Disproportionate short-limb short stature created_by: peter creation_date: 2012-03-15T09:44:56Z [Term] id: HP:0011406 name: Infancy onset short-trunk short stature alt_id: HP:0008851 def: "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy." [HPO:probinson] synonym: "Short-trunk dwarfism, identifiable in infancy" EXACT [] xref: UMLS:C1846061 is_a: HP:0003521 ! Disproportionate short-trunk short stature created_by: peter creation_date: 2012-03-15T09:45:48Z [Term] id: HP:0011407 name: Proportionate tall stature xref: UMLS:C4023371 is_a: HP:0000098 ! Tall stature created_by: peter creation_date: 2012-03-15T09:47:20Z [Term] id: HP:0011408 name: Moderate intrauterine growth retardation def: "Intrauterine growth retardation that is at least 3 standard deviations (SD) below average, but not as low as 4 SD, corrected for sex and gestational age." [DDD:hfirth] xref: UMLS:C4023370 is_a: HP:0001511 ! Intrauterine growth retardation created_by: peter creation_date: 2012-03-15T09:52:50Z [Term] id: HP:0011409 name: Abnormality of placental membranes xref: UMLS:C4023369 is_a: HP:0001194 ! Abnormalities of placenta or umbilical cord created_by: peter creation_date: 2012-03-15T11:07:01Z [Term] id: HP:0011410 name: Caesarian section def: "Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy)." [] synonym: "Caesarian section" EXACT layperson [] xref: SNOMEDCT_US:200144004 xref: UMLS:C1384674 is_a: HP:0001787 ! Abnormal delivery created_by: peter creation_date: 2012-03-15T09:58:01Z [Term] id: HP:0011411 name: Forceps delivery synonym: "Forceps delivery" EXACT layperson [] xref: UMLS:C0341808 is_a: HP:0001787 ! Abnormal delivery created_by: peter creation_date: 2012-03-15T09:58:47Z [Term] id: HP:0011412 name: Ventouse delivery def: "Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately." [DDD:hfirth] synonym: "Vacuum extraction" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Vacuum-assisted vaginal delivery" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D014620 xref: SNOMEDCT_US:10761101000119105 xref: SNOMEDCT_US:61586001 xref: UMLS:C0042225 xref: UMLS:C1456852 xref: UMLS:C2825567 is_a: HP:0001787 ! Abnormal delivery created_by: peter creation_date: 2012-03-15T09:59:31Z [Term] id: HP:0011413 name: Shoulder dystocia def: "Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex." [pmid:15086043] comment: Adelivery in which additional maneuvers are required to deliver the fetus after normal gentle downward traction has failed. xref: SNOMEDCT_US:89700002 xref: UMLS:C0269825 is_a: HP:0001787 ! Abnormal delivery created_by: peter creation_date: 2012-03-15T10:01:02Z [Term] id: HP:0011414 name: Hydropic placenta def: "An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement." [HPO:hfirth] synonym: "Hydrops of the placenta" EXACT [] xref: SNOMEDCT_US:75094005 xref: UMLS:C0270254 is_a: HP:0006267 ! Large placenta created_by: peter creation_date: 2012-03-15T10:07:47Z [Term] id: HP:0011415 name: Calcified placenta xref: SNOMEDCT_US:249174002 xref: UMLS:C0426234 is_a: HP:0100767 ! Abnormality of the placenta created_by: peter creation_date: 2012-03-15T10:10:35Z [Term] id: HP:0011416 name: Placental infarction synonym: "Placental thromboembolism" EXACT [] xref: SNOMEDCT_US:268585006 xref: UMLS:C0554393 is_a: HP:0100767 ! Abnormality of the placenta created_by: peter creation_date: 2012-03-15T10:11:39Z [Term] id: HP:0011417 name: Long umbilical cord def: "Increased length of the umbilical cord." [DDD:hfirth] synonym: "Long umbilical cord" EXACT layperson [] xref: SNOMEDCT_US:237261008 xref: UMLS:C0405028 is_a: HP:0010881 ! Abnormality of the umbilical cord created_by: peter creation_date: 2012-03-15T10:12:55Z [Term] id: HP:0011418 name: Abnormal insertion of umbilical cord synonym: "Vasa previa" EXACT [] xref: MSH:D055949 xref: SNOMEDCT_US:79668009 xref: UMLS:C0269852 is_a: HP:0010881 ! Abnormality of the umbilical cord created_by: peter creation_date: 2012-03-15T10:15:01Z [Term] id: HP:0011419 name: Placental abruption def: "Separation of the placenta from the uterus wall before delivery." [DDD:hfirth] synonym: "Abruptio placentae" EXACT [] xref: MSH:D000037 xref: SNOMEDCT_US:405736009 xref: SNOMEDCT_US:415105001 xref: UMLS:C0000832 is_a: HP:0100767 ! Abnormality of the placenta created_by: peter creation_date: 2012-03-15T11:08:18Z [Term] id: HP:0011420 name: Age of death def: "The age group when the cessation of life happens." [HPO:probinson] xref: UMLS:C1546180 is_a: HP:0040006 ! Mortality/Aging [Term] id: HP:0011421 name: Death in adolescence def: "Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 19 years)." [HPO:probinson] synonym: "Death in adolescence" EXACT layperson [] xref: UMLS:C4023368 is_a: HP:0011420 ! Age of death created_by: peter creation_date: 2012-03-16T06:38:44Z [Term] id: HP:0011422 name: Abnormal blood chloride concentration def: "An abnormality of chloride homeostasis or concentration in the body." [HPO:probinson] synonym: "Abnormal blood Cl concentration" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] synonym: "Abnormal blood Cl- concentration" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] synonym: "Abnormality of chloride homeostasis" EXACT [] xref: UMLS:C4023367 is_a: HP:0003111 ! Abnormal blood ion concentration created_by: peter creation_date: 2012-03-16T06:09:15Z [Term] id: HP:0011423 name: Hyperchloremia def: "An abnormally increased chloride concentration in the blood." [HPO:probinson] xref: SNOMEDCT_US:74450001 xref: UMLS:C0085679 is_a: HP:0011422 ! Abnormal blood chloride concentration created_by: peter creation_date: 2012-03-16T06:09:40Z [Term] id: HP:0011424 name: Increased serum zinc def: "An increased consentration of zinc in the blood." [HPO:probinson] synonym: "Hyperzincemia" EXACT [] xref: UMLS:C0854520 xref: UMLS:C0856208 is_a: HP:0008277 ! Abnormal blood zinc concentration created_by: peter creation_date: 2012-03-17T08:54:44Z [Term] id: HP:0011425 name: Fetal ultrasound soft marker def: "An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders." [pmid:16100637] comment: The screening ultrasound at 16 to 20 weeks should evaluate 8 markers, 5 of which (thickened nuchal fold, echogenic bowel, mild ventriculomegaly, echogenic focus in the heart, and choroid plexus cyst) are associated with an increased risk of fetal aneuploidy, and in some cases with nonchromosomal problems, while 3 (single umbilical artery, enlarged cisterna magna, and pyelectasis) are only associated with an increased risk of nonchromosomal abnormalities when seen in isolation (pmid:16100637). xref: UMLS:C4023366 is_a: HP:0001197 ! Abnormality of prenatal development or birth created_by: peter creation_date: 2012-03-17T04:26:01Z [Term] id: HP:0011426 name: Fetal choroid plexus cysts def: "Fetal choroid plexus cysts (CPCs) are sonographically discrete, small cysts found in the choroid plexus within the lateral cerebral ventricles of the developing fetus at 14 to 24 weeks gestation. Imaging of the choroid plexus is performed in the transverse plane of the fetal head at the same level that the lateral cerebral ventricle is evaluated. The choroid plexus should be inspected bilaterally for the presence of cysts. The size of CPCs is not of clinical relevance (pmid:16100637)." [DDD:hfirth, pmid:16100637, PMID:16809660] comment: There is agreement that ultrasound characteristics of CPC, such as bilaterality, size, number, complexity, and resolution, are not related to the risk of aneuploidy. However, cysts with diameters less than 5 mm may not be linked with trisomy and large cysts in excess of 10 mm may impart a higher risk. xref: SNOMEDCT_US:462165005 xref: UMLS:C3532166 is_a: HP:0011425 ! Fetal ultrasound soft marker created_by: peter creation_date: 2012-03-17T06:59:50Z [Term] id: HP:0011427 name: Enlarged fetal cisterna magna def: "The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vemis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (pmid:16100637)." [DDD:hfirth, pmid:16100637] xref: UMLS:C4023365 is_a: HP:0011425 ! Fetal ultrasound soft marker created_by: peter creation_date: 2012-03-17T07:03:07Z [Term] id: HP:0011428 name: Short fetal femur length def: "A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (pmid:16100637)." [HPO:probinson, pmid:16100637] synonym: "Short fetal thigh bone length" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C0743924 is_a: HP:0011425 ! Fetal ultrasound soft marker created_by: peter creation_date: 2012-03-17T07:05:40Z [Term] id: HP:0011429 name: Short fetal humerus length def: "A short humerus length is defined as a length below the 2.5th percentile for gestational age or as a measurement less than 0.9 of that predicted by the measured biparietal diameter. The humerus should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (pmid:16100637)." [HPO:probinson, pmid:16100637] synonym: "Short fetal long bone in upper arm length" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023364 is_a: HP:0011425 ! Fetal ultrasound soft marker created_by: peter creation_date: 2012-03-17T07:07:05Z [Term] id: HP:0011430 name: Hypoplasia of fetal nasal bone def: "On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (pmid:16100637)." [HPO:probinson, pmid:16100637] synonym: "Underdeveloped fetal nose bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023363 is_a: HP:0011425 ! Fetal ultrasound soft marker created_by: peter creation_date: 2012-03-17T07:08:30Z [Term] id: HP:0011431 name: Fetal fifth finger clinodactyly def: "Fifth finger clinodactyly is defined by a hypoplastic or absent mid-phalanx of the fifth digit. Ultrasound identification of the fetal hand must first be undertaken and then appropriate magnification accomplished. The evaluation requires stretching of the 5 fingers. The diagnosis is established when the middle phalanx of the fifth finger is markedly smaller than normal or absent, which often causes the finger to be curved inward (pmid:16100637)." [HPO:probinson, pmid:16100637] synonym: "Fetal little finger curvature" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Fetal pinkie finger curvature" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Fetal pinky finger curvature" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023362 xref: UMLS:C4280326 is_a: HP:0011425 ! Fetal ultrasound soft marker created_by: peter creation_date: 2012-03-17T07:11:26Z [Term] id: HP:0011432 name: High maternal serum alpha-fetoprotein def: "An abnormally high concentration of serum alpha-fetoprotein as compared to normal values for gestational-age." [DDD:hfirth] comment: Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome. xref: UMLS:C4023361 is_a: HP:0011436 ! Abnormal maternal serum screening created_by: peter creation_date: 2012-03-17T07:45:07Z [Term] id: HP:0011433 name: High maternal serum chorionic gonadotropin def: "An abnormally high concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age." [DDD:hfirth, pmid:2447576] comment: Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome. synonym: "High maternal serum hCG" EXACT [] xref: UMLS:C4021150 is_a: HP:0011436 ! Abnormal maternal serum screening created_by: peter creation_date: 2012-03-17T07:47:39Z [Term] id: HP:0011434 name: Low maternal serum chorionic gonadotropin def: "An abnormally low concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age." [DDD:hfirth, pmid:2447576] comment: Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome. synonym: "Low maternal serum hCG" EXACT [] xref: UMLS:C4021149 is_a: HP:0011436 ! Abnormal maternal serum screening created_by: peter creation_date: 2012-03-17T07:48:26Z [Term] id: HP:0011435 name: Low maternal serum PAPP-A def: "An abnormally low concentration of serum PAPP-A (pregnancy associated plasma protein A), as compared to normal values for gestational-age." [DDD:hfirth, pmid:19038077] comment: Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome. xref: UMLS:C4023360 is_a: HP:0011436 ! Abnormal maternal serum screening created_by: peter creation_date: 2012-03-17T07:51:25Z [Term] id: HP:0011436 name: Abnormal maternal serum screening def: "An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy." [DDD:hfirth, pmid:19038077] xref: UMLS:C4023359 is_a: HP:0002686 ! Prenatal maternal abnormality created_by: peter creation_date: 2012-03-17T07:52:25Z [Term] id: HP:0011437 name: Maternal autoimmune disease def: "A medical history of a fetus or child born to a mother with an autoimmune disease." [DDD:hfirth] comment: Maternal autoimmune diseases with potential adverse effects for the fetus include autoimmune forms of hyperthyroidism and hypothyroidism, myasthenia gravis, systemic lupus erythematodes, and autoimmune forms of thrombocytopenia. xref: UMLS:C4023358 is_a: HP:0002686 ! Prenatal maternal abnormality created_by: peter creation_date: 2012-03-17T07:54:31Z [Term] id: HP:0011438 name: Maternal teratogenic exposure def: "A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy." [DDD:hfirth] comment: Commonly encountered maternal teratogens include alcohol, antiepileptic drugs, antihypertensive and antithyroid medications, aspirin, bisphosphonates, chemotherapy, monoclonal antibodies, ionizing radiation, recreational drugs, and serotonin-specific reuptake inhibitors (a class of antidepressants). xref: UMLS:C4023357 is_a: HP:0031437 ! Pregnancy exposure created_by: peter creation_date: 2012-03-17T07:59:06Z [Term] id: HP:0011439 name: Anesthetic-induced rhabdomylosis def: "Rhabdomyolysis induced by anesthesia." [HPO:probinson] xref: UMLS:C4023356 is_a: HP:0003201 ! Rhabdomyolysis created_by: peter creation_date: 2012-03-18T12:19:01Z [Term] id: HP:0011440 name: Alcohol-induced rhabdomyolysis def: "Rhabdomyolysis induced by intake of alcohol." [HPO:probinson] xref: UMLS:C4023355 is_a: HP:0003201 ! Rhabdomyolysis created_by: peter creation_date: 2012-03-18T12:21:35Z [Term] id: HP:0011441 name: Abnormality of the medulla oblongata def: "An abnormality of the medulla oblongata, the lower half of the brainstem." [HPO:probinson] comment: The medulla oblongata, which is often referred to simply as the medulla, comprises the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures. synonym: "Abnormality of the myencephalon" EXACT [] xref: UMLS:C4021148 is_a: HP:0002363 ! Abnormality of brainstem morphology is_a: HP:0011282 ! Abnormality of hindbrain morphology created_by: peter creation_date: 2012-03-18T01:51:24Z [Term] id: HP:0011442 name: Abnormality of central motor function def: "An anomaly of the control or production of movement in the central nervous system." [HPO:probinson] xref: UMLS:C4023354 is_a: HP:0012638 ! Abnormality of nervous system physiology created_by: peter creation_date: 2012-03-18T02:29:04Z [Term] id: HP:0011443 name: Abnormality of coordination synonym: "Abnormality of coordination" EXACT layperson [] synonym: "Coordination issue" EXACT layperson [] xref: UMLS:C4023353 is_a: HP:0011442 ! Abnormality of central motor function created_by: peter creation_date: 2012-03-18T02:40:46Z [Term] id: HP:0011444 name: Decorticate rigidity def: "A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus." [HPO:probinson] comment: Decorticate posturing xref: MSH:D003655 xref: SNOMEDCT_US:36423000 xref: UMLS:C0231521 is_a: HP:0002063 ! Rigidity created_by: peter creation_date: 2012-03-18T03:30:10Z [Term] id: HP:0011445 name: Athetoid cerebral palsy def: "A type of cerebral palsy characterized by slow, involuntary muscle movement and mixed muscle tone." [DDD:ssissodiya] comment: Athetoid cerebral palsy is caused by damage to the basal ganglia. synonym: "Dyskinetic cerebral palsy" RELATED [] xref: MSH:D002547 xref: SNOMEDCT_US:230780007 xref: SNOMEDCT_US:75019001 xref: UMLS:C0270742 is_a: HP:0002071 ! Abnormality of extrapyramidal motor function is_a: HP:0100021 ! Cerebral palsy created_by: peter creation_date: 2012-03-18T03:53:04Z [Term] id: HP:0011446 name: Abnormality of higher mental function def: "Cognitive, psychiatric or memory anomaly." [DDD:ajackson] xref: UMLS:C4023352 is_a: HP:0012638 ! Abnormality of nervous system physiology created_by: peter creation_date: 2012-03-18T04:23:59Z [Term] id: HP:0011447 name: Hyposegmentation of neutrophil nuclei def: "Hyposegmented (hypolobulated) or bilobed neutrophil nuclei." [DDD:probinson] comment: Hyposegmented cells are neutrophils with fewer than three nuclear lobes. synonym: "Hyposegmentation of neutrophil nuclei in peripheral blood" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-8169-9049] synonym: "Pelger-Huet anomaly" RELATED [] xref: MSH:D010381 xref: SNOMEDCT_US:85559002 xref: UMLS:C0030779 xref: UMLS:C4023351 is_a: HP:0011992 ! Abnormality of neutrophil morphology created_by: peter creation_date: 2012-03-18T04:44:22Z [Term] id: HP:0011448 name: Ankle clonus alt_id: HP:0002541 def: "Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward." [HPO:probinson] comment: Ankle clonus is generally caused by corticospinal disease. synonym: "Abnormal rhythmic movements of ankle" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:39055007 xref: UMLS:C0238651 is_a: HP:0002169 ! Clonus is_a: HP:0003028 ! Abnormality of the ankles created_by: peter creation_date: 2012-03-18T05:09:48Z [Term] id: HP:0011449 name: Knee clonus alt_id: HP:0002325 def: "Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes." [HPO:probinson] synonym: "Patellar clonus" EXACT [] xref: SNOMEDCT_US:54360005 xref: UMLS:C0520823 is_a: HP:0002169 ! Clonus created_by: peter creation_date: 2012-03-18T05:11:32Z [Term] id: HP:0011450 name: Unusual CNS infection def: "A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection." [] synonym: "Central nervous system infection" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D002494 xref: SNOMEDCT_US:128117002 xref: UMLS:C0007684 is_a: HP:0002011 ! Morphological abnormality of the central nervous system is_a: HP:0032158 ! Unusual infection by anatomical site created_by: peter creation_date: 2012-03-18T05:57:29Z [Term] id: HP:0011451 name: Congenital microcephaly def: "Head circumference below 2 standard deviations below the mean for age and gender at birth." [HPO:probinson] synonym: "Congenital decreased head circumference" EXACT [ORCID:0000-0001-5889-4463] synonym: "Congenital small head" BROAD [ORCID:0000-0001-5889-4463] synonym: "Congenital small head circumference" BROAD [ORCID:0000-0001-5889-4463] synonym: "Congenital small skull" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased head circumference present at birth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Head circumference small for gestational age" RELATED [ORCID:0000-0001-5889-4463] synonym: "Microcephaly present at birth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Small cranium present at birth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Small head circumference present at birth" BROAD [ORCID:0000-0001-5889-4463] synonym: "Small head present at birth" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Small skull present at birth" BROAD [ORCID:0000-0001-5889-4463] xref: UMLS:C2677180 xref: UMLS:C4020749 is_a: HP:0000252 ! Microcephaly created_by: peter creation_date: 2012-03-18T06:50:36Z [Term] id: HP:0011452 name: Functional abnormality of the middle ear def: "An abnormality of the function of the middle ear." [HPO:probinson] comment: The middle ear comprises the tympanic cavity in the temporal bone of the skull behind the eardrum, and is separated from the outer ear by the ear drum. The tympanic cavity contains the auditory ossicles (malleus, incus, stapes) that vibrate when exposed to sound, forming a chain that extends to the oval window of the inner ear and whose main function is to amplify sound. Additionally, the middle ear connects to the back of the throat and nose through the Eustachian tube. synonym: "Functional abnormality of the middle ear" EXACT layperson [] xref: UMLS:C4021846 is_a: HP:0000370 ! Abnormality of the middle ear created_by: peter creation_date: 2012-03-19T09:33:03Z [Term] id: HP:0011453 name: Abnormality of the incus def: "An abnormality of the incus, an ossicle in the middle ear." [DDD:dfitzpatrick] xref: UMLS:C4023350 is_a: HP:0004452 ! Abnormality of the middle ear ossicles created_by: peter creation_date: 2012-03-19T09:38:20Z [Term] id: HP:0011454 name: Abnormality of the malleus def: "An abnormality of the malleus, an ossicle in the middle ear." [DDD:dfitzpatrick] xref: UMLS:C4023349 is_a: HP:0004452 ! Abnormality of the middle ear ossicles created_by: peter creation_date: 2012-03-19T09:40:02Z [Term] id: HP:0011455 name: Absent malleus def: "Aplasia of the malleus." [DDD:dfitzpatrick] xref: SNOMEDCT_US:300169003 xref: UMLS:C0576900 is_a: HP:0011454 ! Abnormality of the malleus created_by: peter creation_date: 2012-03-19T09:40:08Z [Term] id: HP:0011456 name: Absent stapes def: "Aplasia of the stapes." [DDD:dfitzpatrick] xref: SNOMEDCT_US:300178009 xref: UMLS:C0576909 is_a: HP:0008628 ! Abnormality of the stapes created_by: peter creation_date: 2012-03-19T09:42:52Z [Term] id: HP:0011457 name: Loss of eyelashes def: "This term refers to the loss of eyelashes that were previously present." [HPO:probinson] comment: Common causes of loss of eyelashes include inflammation, autoimmunity, tumors,endocrine disorders, drugs and medications, and a number of congenital conditions. synonym: "Ciliary Madarosis" EXACT [] synonym: "Eyelashes fell out" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Loss of eyelashes" EXACT layperson [] synonym: "Milphosis" EXACT [] synonym: "Missing eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:34887006 xref: UMLS:C0271321 is_a: HP:0000499 ! Abnormal eyelash morphology created_by: peter creation_date: 2012-03-25T09:15:21Z [Term] id: HP:0011458 name: Abdominal symptom xref: UMLS:C0740651 is_a: HP:0025032 ! Abnormality of digestive system physiology created_by: peter creation_date: 2012-03-25T05:35:45Z [Term] id: HP:0011459 name: Esophageal carcinoma def: "The presence of a carcinoma of the esophagus." [DDD:hfirth, NCIT:C3513] xref: SNOMEDCT_US:372138000 xref: UMLS:C0152018 is_a: HP:0100751 ! Esophageal neoplasm created_by: peter creation_date: 2012-03-25T06:55:07Z [Term] id: HP:0011460 name: Embryonal onset def: "Onset of disease at up to 8 weeks of gestation." [DDD:whouwehand] xref: UMLS:C4023348 is_a: HP:0030674 ! Antenatal onset created_by: peter creation_date: 2012-03-25T06:57:48Z [Term] id: HP:0011461 name: Fetal onset def: "Onset prior to birth but after 8 weeks of gestation." [DDD:whouwehand] xref: UMLS:C4023347 is_a: HP:0030674 ! Antenatal onset created_by: peter creation_date: 2012-03-25T06:58:21Z [Term] id: HP:0011462 name: Young adult onset def: "Onset of disease at the age of between 16 and 40 years." [DDD:hfirth] xref: UMLS:C3554568 is_a: HP:0003581 ! Adult onset created_by: peter creation_date: 2012-03-25T07:01:15Z [Term] id: HP:0011463 name: Childhood onset alt_id: HP:0003586 alt_id: HP:0003617 def: "Onset of disease at the age of between 1 and 5 years." [DDD:hfirth] comment: This term refers to ages up to but not including the fifth birthday (see Juvenile onset). synonym: "Symptoms begin in childhood" EXACT layperson [orcid.org/0000-0002-6548-5200] xref: UMLS:C1837352 is_a: HP:0410280 ! Pediatric onset created_by: peter creation_date: 2012-03-25T07:16:20Z [Term] id: HP:0011464 name: Aganglionosis of the small intestine def: "A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the small intestine." [DDD:hfirth] xref: UMLS:C4023346 is_a: HP:0004362 ! Abnormality of enteric ganglion morphology created_by: peter creation_date: 2012-03-25T07:36:49Z [Term] id: HP:0011465 name: Duodenal aganglionosis def: "A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the duodenum." [DDD:hfirth] xref: UMLS:C4023345 is_a: HP:0011464 ! Aganglionosis of the small intestine created_by: peter creation_date: 2012-03-25T07:38:12Z [Term] id: HP:0011466 name: Aplasia/Hypoplasia of the gallbladder def: "Absence or underdevelopment of the gallbladder." [HPO:probinson] synonym: "Absent/small gallbladder" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped gallbladder" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023344 is_a: HP:0012437 ! Abnormal gallbladder morphology created_by: peter creation_date: 2012-03-25T07:40:20Z [Term] id: HP:0011467 name: Absent gallbladder def: "A developmental defect in which the gallbladder fails to form." [DDD:hfirth] synonym: "Absent gallbladder" EXACT layperson [] synonym: "Agenesis of the gallbladder" EXACT [] synonym: "Aplasia of the gallbladder" EXACT [] xref: MSH:C562564 xref: SNOMEDCT_US:86507001 xref: UMLS:C0266251 is_a: HP:0011466 ! Aplasia/Hypoplasia of the gallbladder created_by: peter creation_date: 2012-03-25T07:41:14Z [Term] id: HP:0011468 name: Facial tics def: "Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face." [DDD:cwright] synonym: "Cramping of facial muscles" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Facial spasms" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Facial tics" EXACT layperson [] synonym: "Involuntary facial muscle spasms" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Jerking of facial muscles" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Mimic spasms" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Muscle spasm of face" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Myoclonus of facial muscles" BROAD [ORCID:0000-0001-5889-4463] synonym: "Spasms of facial muscles" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Twitching of facial muscles" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:230335009 xref: SNOMEDCT_US:32402008 xref: UMLS:C0278151 xref: UMLS:C0338467 xref: UMLS:C0858722 xref: UMLS:C4280324 xref: UMLS:C4280325 is_a: HP:0005324 ! Disturbance of facial expression created_by: peter creation_date: 2012-03-25T07:45:47Z [Term] id: HP:0011469 name: Nasal regurgitation def: "Regurgitation of milk through the nose." [DDD:ncarter] xref: SNOMEDCT_US:85023004 xref: UMLS:C0232608 is_a: HP:0008872 ! Feeding difficulties in infancy created_by: peter creation_date: 2012-03-25T07:52:19Z [Term] id: HP:0011470 name: Nasogastric tube feeding in infancy def: "Feeding problem necessitating nasogastric tube feeding." [DDD:ncarter] comment: This is a severe form of feeding problems in infancy. xref: UMLS:C4023343 is_a: HP:0008872 ! Feeding difficulties in infancy created_by: peter creation_date: 2012-03-25T07:53:46Z [Term] id: HP:0011471 name: Gastrostomy tube feeding in infancy def: "Feeding problem necessitating gastrostomy tube feeding." [DDD:ncarter] comment: This is an extremely severe form of feeding problems in infancy. synonym: "PEG-fed in infancy" RELATED [] xref: UMLS:C4020748 xref: UMLS:C4023342 is_a: HP:0008872 ! Feeding difficulties in infancy created_by: peter creation_date: 2012-03-25T10:00:00Z [Term] id: HP:0011472 name: Abnormality of small intestinal villus morphology synonym: "Abnormal shape of small intestinal villus" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4023341 is_a: HP:0002244 ! Abnormality of the small intestine created_by: peter creation_date: 2012-03-26T08:16:03Z [Term] id: HP:0011473 name: Villous atrophy def: "The enteric villi are atrophic or absent." [HPO:probinson] subset: hposlim_core synonym: "Atrophy of small intestinal villi" EXACT [] synonym: "Biopsy shows villous atrophy" RELATED [HPO:skoehler] synonym: "Duodenal villous atrophy" RELATED [HPO:skoehler] synonym: "Small intestine biopsy shows villous atrophy" RELATED [HPO:skoehler] synonym: "Variable degree of villous atrophy" RELATED [HPO:skoehler] synonym: "Villous degeneration" EXACT [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:275403002 xref: SNOMEDCT_US:75581001 xref: UMLS:C0267456 xref: UMLS:C0554101 xref: UMLS:C1833058 xref: UMLS:C1859541 xref: UMLS:C2677378 xref: UMLS:C4020747 is_a: HP:0011472 ! Abnormality of small intestinal villus morphology created_by: peter creation_date: 2012-03-26T08:18:31Z [Term] id: HP:0011474 name: Childhood onset sensorineural hearing impairment def: "Sensorineural hearing impairment with childhood onset." [DDD:dfitzpatrick] xref: UMLS:C4023340 is_a: HP:0000407 ! Sensorineural hearing impairment created_by: peter creation_date: 2012-03-30T07:18:09Z [Term] id: HP:0011475 name: Persistent stapedial artery def: "Persistence of the stapedial artery, which normally regresses during embryonic life." [DDD:mbitner-glidicz] xref: UMLS:C4023339 is_a: HP:0008609 ! Morphological abnormality of the middle ear created_by: peter creation_date: 2012-03-31T08:38:23Z [Term] id: HP:0011476 name: Profound sensorineural hearing impairment def: "Complete loss of hearing related to a sensorineural defect." [DDD:dfitzpatrick] xref: UMLS:C4023338 is_a: HP:0000407 ! Sensorineural hearing impairment is_a: HP:0012715 ! Profound hearing impairment created_by: peter creation_date: 2012-03-31T10:21:17Z [Term] id: HP:0011477 name: Upbeat nystagmus def: "In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient." [HPO:probinson, pmid:21505601] comment: In most cases, paramedian lesions in the medulla oblongata or the midbrain are found, for example, in patients with multiple sclerosis, brainstem ischemia or tumors, or Wernicke's encephalopathy. xref: SNOMEDCT_US:307677002 xref: UMLS:C0585545 is_a: HP:0010544 ! Vertical nystagmus created_by: peter creation_date: 2012-04-01T10:54:17Z [Term] id: HP:0011478 name: True anophthalmia def: "Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination." [DDD:ncarter] comment: True anophthalmia implies an early failure of eye development. synonym: "Complete anophthalmia" EXACT [ORCID:0000-0001-5889-4463] synonym: "Completely missing eyeball" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Total anophthalmia" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C2675590 is_a: HP:0000528 ! Anophthalmia created_by: peter creation_date: 2012-04-01T12:19:11Z [Term] id: HP:0011479 name: Abnormal lacrimal punctum morphology def: "An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid." [HPO:probinson] synonym: "Abnormality of the lacrimal punctum" EXACT [] xref: UMLS:C4023337 is_a: HP:0000614 ! Abnormal nasolacrimal system morphology created_by: peter creation_date: 2012-04-01T09:08:05Z [Term] id: HP:0011480 name: Unilateral microphthalmos def: "A developmental anomaly characterized by abnormal smallness of one eye." [DDD:ncarter] synonym: "Abnormally small eyeball on one side" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Unilateral nanophthalmos" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C3640024 xref: UMLS:C4280323 is_a: HP:0000568 ! Microphthalmia created_by: peter creation_date: 2012-04-01T12:35:57Z [Term] id: HP:0011481 name: Abnormal lacrimal duct morphology def: "An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac." [HPO:probinson] synonym: "Abnormality of the lacrimal canaliculus" EXACT [] synonym: "Abnormality of the lacrimal duct" EXACT [] xref: UMLS:C1858567 is_a: HP:0000614 ! Abnormal nasolacrimal system morphology created_by: peter creation_date: 2012-04-01T09:11:55Z [Term] id: HP:0011482 name: Abnormal lacrimal gland morphology def: "Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye." [HPO:probinson] synonym: "Abnormality of the lacrimal gland" EXACT [] xref: UMLS:C4023336 is_a: HP:0000614 ! Abnormal nasolacrimal system morphology created_by: peter creation_date: 2012-04-01T09:35:54Z [Term] id: HP:0011483 name: Anterior synechiae of the anterior chamber def: "Adhesions between the iris and the cornea." [DDD:ncarter] synonym: "Anterior synechiae" EXACT [] synonym: "Cornea-iris adhesion" EXACT [] synonym: "Iridocorneal synechia" EXACT [] xref: SNOMEDCT_US:70992005 xref: UMLS:C0152252 is_a: HP:0007833 ! Anterior chamber synechiae created_by: peter creation_date: 2012-04-02T08:50:23Z [Term] id: HP:0011484 name: Posterior synechiae of the anterior chamber def: "Adhesions between the iris and the lens." [DDD:ncarter] synonym: "Iridolenticular adhesions" EXACT [] synonym: "Posterior synechiae" EXACT [] xref: SNOMEDCT_US:111512005 xref: UMLS:C0152253 is_a: HP:0007833 ! Anterior chamber synechiae created_by: peter creation_date: 2012-04-02T08:50:59Z [Term] id: HP:0011485 name: Corneolenticular adhesion def: "Developmental abnormality in which the lens and cornea are not separated." [DDD:ncarter] xref: UMLS:C4023334 is_a: HP:0000593 ! Abnormal anterior chamber morphology created_by: peter creation_date: 2012-04-02T08:52:43Z [Term] id: HP:0011486 name: Abnormality of corneal thickness def: "An abnormal anteroposterior thickness of the cornea." [DDD:gblack] xref: UMLS:C4023333 is_a: HP:0000481 ! Abnormal cornea morphology created_by: peter creation_date: 2012-04-02T10:15:01Z [Term] id: HP:0011487 name: Increased corneal thickness def: "A increased anteroposterior thickness of the cornea." [HPO:probinson] xref: UMLS:C3810451 is_a: HP:0011486 ! Abnormality of corneal thickness created_by: peter creation_date: 2012-04-02T10:17:35Z [Term] id: HP:0011488 name: Abnormal corneal endothelium morphology def: "Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea." [DDD:gblack] synonym: "Abnormality of corneal endothelium" EXACT [] xref: UMLS:C4023332 is_a: HP:0000481 ! Abnormal cornea morphology created_by: peter creation_date: 2012-04-02T10:18:50Z [Term] id: HP:0011489 name: Abnormal migration of corneal endothelium def: "Abnormal migration of corneal endothelium." [DDD:ncarter] comment: Can be seen in posterior polymorphous corneal dystrophy. xref: UMLS:C4023331 is_a: HP:0011488 ! Abnormal corneal endothelium morphology created_by: peter creation_date: 2012-04-02T10:20:17Z [Term] id: HP:0011490 name: Abnormal Descemet membrane morphology def: "Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium." [DDD:gblack] synonym: "Abnormality of Descemet's membrane" EXACT [] xref: UMLS:C4023330 is_a: HP:0011488 ! Abnormal corneal endothelium morphology created_by: peter creation_date: 2012-04-02T10:23:11Z [Term] id: HP:0011491 name: Reduced number of corneal endothelial cells def: "A reduction in the number of corneal endothelial cells." [DDD:ncarter] xref: UMLS:C4023329 is_a: HP:0011488 ! Abnormal corneal endothelium morphology created_by: peter creation_date: 2012-04-02T10:24:23Z [Term] id: HP:0011492 name: Abnormality of corneal stroma def: "An abnormality of the stroma of cornea, also known as the substantia propria of cornea." [DDD:ncarter, HPO:probinson] xref: UMLS:C4023328 is_a: HP:0000481 ! Abnormal cornea morphology created_by: peter creation_date: 2012-04-02T10:28:49Z [Term] id: HP:0011493 name: Central opacification of the cornea def: "Reduced transparency of the central portion of the corneal stroma." [DDD:ncarter] xref: UMLS:C4023327 is_a: HP:0007759 ! Opacification of the corneal stroma created_by: peter creation_date: 2012-04-02T10:36:22Z [Term] id: HP:0011494 name: Generalized opacification of the cornea def: "Generalized reduced transparency of the stroma of the cornea." [DDD:gblack] synonym: "Generalised opacification of the cornea" EXACT HP:0045076 [] xref: UMLS:C4021147 is_a: HP:0007759 ! Opacification of the corneal stroma created_by: peter creation_date: 2012-04-02T10:39:50Z [Term] id: HP:0011495 name: Abnormal corneal epithelium morphology def: "Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea." [DDD:gblack] synonym: "Abnormality of corneal epithelium" EXACT [] xref: UMLS:C4023326 is_a: HP:0000481 ! Abnormal cornea morphology created_by: peter creation_date: 2012-04-03T07:10:49Z [Term] id: HP:0011496 name: Corneal neovascularization def: "Ingrowth of new blood vessels into the cornea." [DDD:ncarter, pmid:22898649] comment: New blood vessels, which sprout from the capillaries and venules of the pericorneal plexus, may block light, compromise visual acuity, and lead to inflammation, corneal scarring, and edema. Corneal neovascularization may be a consequence of corneal hypoxia. Neovascular patterns can be separated into three clinical groups: deep neovascularization overlying Descemet's membrane (seen in herpetic and luetic interstitial keratitis), stromal neovascularization (as a result of stromal keratitis), and vascular pannus (from ocular surface disorders). synonym: "Corneal neovascularisation" EXACT HP:0045076 [] synonym: "Corneal vascularization" EXACT [] synonym: "Limbal neovascularization" EXACT [] synonym: "New blood vessel formation in cornea" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D016510 xref: SNOMEDCT_US:19161004 xref: UMLS:C0085109 is_a: HP:0000481 ! Abnormal cornea morphology created_by: peter creation_date: 2012-04-03T07:15:37Z [Term] id: HP:0011497 name: Iris neovascularization def: "New growth of vessels on the surface of the iris." [DDD:ncarter] synonym: "New blood vessel formation in iris" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:51995000 xref: UMLS:C0154916 is_a: HP:0007905 ! Abnormal iris vasculature created_by: peter creation_date: 2012-04-03T07:32:43Z [Term] id: HP:0011498 name: obsolete Partial aniridia is_obsolete: true replaced_by: HP:0000526 creation_date: 2012-04-03T07:38:24Z [Term] id: HP:0011499 name: Mydriasis def: "Abnormal dilatation of the iris." [DDD:ncarter] subset: hposlim_core synonym: "Dilated pupil" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D015878 xref: SNOMEDCT_US:37125009 xref: UMLS:C0026961 is_a: HP:0007686 ! Abnormal pupillary function created_by: peter creation_date: 2012-04-03T07:49:21Z [Term] id: HP:0011500 name: Polycoria def: "Multiple pupils." [DDD:ncarter] synonym: "Multiple pupils" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:204159004 xref: UMLS:C0344544 is_a: HP:0000615 ! Abnormal pupil morphology created_by: peter creation_date: 2012-04-04T07:19:56Z [Term] id: HP:0011501 name: Anterior lenticonus def: "A conical projection of the anterior surface of the lens, occurring as a developmental anomaly." [DDD:gblack] xref: SNOMEDCT_US:95480008 xref: UMLS:C0344262 is_a: HP:0001142 ! Lenticonus created_by: peter creation_date: 2012-04-04T07:54:36Z [Term] id: HP:0011502 name: Posterior lenticonus def: "A conical projection of the posterior surface of the lens, occurring as a developmental anomaly." [DDD:gblack] xref: SNOMEDCT_US:95482000 xref: UMLS:C0344263 is_a: HP:0001142 ! Lenticonus created_by: peter creation_date: 2012-04-04T07:55:12Z [Term] id: HP:0011503 name: Aplasia of the fovea def: "Congenital absence of the fovea." [HPO:probinson] comment: Aplasia of the fovea can occur in aniridia and albinism. synonym: "Absent fovea" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4023324 is_a: HP:0008060 ! Aplasia/Hypoplasia of the fovea created_by: peter creation_date: 2012-04-06T08:40:21Z [Term] id: HP:0011504 name: Bull's eye maculopathy def: "Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation." [DDD:gblack] synonym: "Chloroquine retinopathy" EXACT [ORCID:0000-0001-5208-3432] xref: MSH:C537833 xref: SNOMEDCT_US:312958000 xref: SNOMEDCT_US:424169002 xref: UMLS:C0730330 xref: UMLS:C1828210 is_a: HP:0008002 ! Abnormality of macular pigmentation created_by: peter creation_date: 2012-04-06T08:57:53Z [Term] id: HP:0011505 name: Cystoid macular edema def: "Cystoid macular edema (CME) is any type of macular edema that involves cyst formation." [DDD:ncarter] comment: CME can occur with Irvine-Gass syndrome and other disorders. synonym: "Cystoid macular oedema" EXACT [] xref: MSH:D008269 xref: SNOMEDCT_US:193387007 xref: UMLS:C0024440 is_a: HP:0040049 ! Macular edema created_by: peter creation_date: 2012-04-06T09:12:59Z [Term] id: HP:0011506 name: Choroidal neovascularization def: "Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye." [DDD:ncarter] comment: This is a common symptom of the degenerative maculopathy wet age-related macular degeneration. xref: UMLS:C4023323 is_a: HP:0001103 ! Abnormal macular morphology is_a: HP:0025568 ! Abnormal morphology of the choroidal vasculature created_by: peter creation_date: 2012-04-06T09:28:46Z [Term] id: HP:0011507 name: Macular flecks def: "Pale often indistinct lesions of the macula." [DDD:gblack] xref: UMLS:C4023322 is_a: HP:0030500 ! Yellow/white lesions of the macula created_by: peter creation_date: 2012-04-06T09:38:42Z [Term] id: HP:0011508 name: Macular hole def: "A macular hole is a small break in the macula, located in the center of the retina." [DDD:ncarter] xref: MSH:D012167 xref: SNOMEDCT_US:232006002 xref: UMLS:C0024441 is_a: HP:0001103 ! Abnormal macular morphology is_a: HP:0011958 ! Retinal perforation created_by: peter creation_date: 2012-04-06T09:39:58Z [Term] id: HP:0011509 name: Macular hyperpigmentation def: "Increased amount of pigmentation in the macula lutea." [DDD:ncarter] xref: UMLS:C0745109 is_a: HP:0008002 ! Abnormality of macular pigmentation created_by: peter creation_date: 2012-04-06T09:52:11Z [Term] id: HP:0011510 name: Drusen def: "Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye." [DDD:gblack] xref: SNOMEDCT_US:18695008 xref: UMLS:C1260959 is_a: HP:0030506 ! Yellow/white lesions of the retina created_by: peter creation_date: 2012-04-06T09:54:42Z [Term] id: HP:0011511 name: Macular schisis def: "Splitting of the retina in the macular region." [DDD:gblack] comment: This abnormality can be seen in X-linked retinoschisis. xref: UMLS:C4023321 is_a: HP:0030498 ! Macular thickening created_by: peter creation_date: 2012-04-06T09:55:43Z [Term] id: HP:0011512 name: Hyperpigmentation of the fundus def: "Increased pigmentation of the fundus" [DDD:ncarter, ORCID:0000-0003-0986-4123] synonym: "Hyperpigmented fundi" EXACT [] synonym: "Hyperpigmented fundus" EXACT [] xref: UMLS:C4021146 is_a: HP:0031605 ! Abnormality of fundus pigmentation created_by: peter creation_date: 2012-04-06T10:34:11Z [Term] id: HP:0011513 name: Retinal cavernous angioma def: "A benign tumor of the retina that appears as a grouping of blood-filled saccules within the inner retinal layers or on the surface of the optic disc. Retinal cavernous angioma are described as having a 'cluster of grapes' appearance." [HPO:probinson, pmid:20844673] comment: The lesions are variable in size and location, and frequently follow the course of a major retinal vein. Epiretinal membranes are a common feature. In contrast to retinal capillary hemangiomas, cavernous hemangiomas lack prominent feeder vessels, intraretinal exudate, and surrounding subretinal fluid. Because the fundoscopic features are characteristic, diagnosis can generally be made based upon clinical appearance. xref: SNOMEDCT_US:312937006 xref: UMLS:C0730304 is_a: HP:0007797 ! Retinal vascular malformation created_by: peter creation_date: 2012-04-06T04:12:54Z [Term] id: HP:0011514 name: Abnormality of binocular vision def: "An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth." [DDD:ncarter] xref: UMLS:C4023320 is_a: HP:0000504 ! Abnormality of vision created_by: peter creation_date: 2012-04-06T06:00:34Z [Term] id: HP:0011515 name: Abnormal stereopsis def: "Inability to make fine depth discriminations from parallax provided by the two eyes' different positions on the head." [DDD:gblack] xref: UMLS:C4023319 is_a: HP:0011514 ! Abnormality of binocular vision created_by: peter creation_date: 2012-04-06T06:03:49Z [Term] id: HP:0011516 name: Achromatopsia def: "A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult." [DDD:gblack, PMID:12015282] comment: The end stage of cone degeneration is rod monochromacy, also called achromatopsia, in which vision is mediated exclusively by rod photoreceptors. Rod monochromacy can also be manifest from birth and can be due to congenitally absent or dysfunctional cone photoreceptors. There is no rod counterpart to cone degeneration; all rod photoreceptor degenerations have a secondary loss of cones and are categorized as retinitis pigmentosa. synonym: "Rod monochromacy" EXACT [] synonym: "Rod monochromatism" EXACT [] xref: MSH:C536021 xref: SNOMEDCT_US:102450007 xref: UMLS:C0302129 is_a: HP:0007803 ! Monochromacy created_by: peter creation_date: 2012-04-06T06:40:03Z [Term] id: HP:0011517 name: Cone monochromacy def: "The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors." [DDD:ncarter] comment: There are three differing forms of cone monochromacy, named according to the residual functioning cone class, (1) blue cone (S-cone) monochromacy, green cone (M-cone) monochromacy, and red cone (L-cone) monochromacy. xref: UMLS:C4023318 is_a: HP:0007803 ! Monochromacy created_by: peter creation_date: 2012-04-06T06:40:33Z [Term] id: HP:0011518 name: Dichromacy def: "Individuals affected by dichromacy possess only two types of cones, instead of three." [HPO:probinson] comment: The three types of dichromacy (protanopia, deuteranopia, and tritanopia) are named according the cone photopigment that is missing. xref: UMLS:C4023317 is_a: HP:0007641 ! Dyschromatopsia created_by: peter creation_date: 2012-04-06T06:46:27Z [Term] id: HP:0011519 name: Anomalous trichromacy def: "Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones." [HPO:probinson] comment: Because the spectral sensitivities of individuals with anomalous trichromacy are shifted compared to normal, they mix the primary colors in different proportions. xref: UMLS:C4023316 is_a: HP:0007641 ! Dyschromatopsia created_by: peter creation_date: 2012-04-06T06:57:10Z [Term] id: HP:0011520 name: Deuteranomaly def: "A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green." [HPO:probinson] comment: Note that protanomaly and deuteranomaly are both associated with difficulties distinguishing red and green. synonym: "Deuteranomoly" EXACT [] synonym: "Green-weak" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D003117 xref: SNOMEDCT_US:246674000 xref: SNOMEDCT_US:77479002 xref: UMLS:C0155016 is_a: HP:0000642 ! Red-green dyschromatopsia is_a: HP:0011519 ! Anomalous trichromacy created_by: peter creation_date: 2012-04-06T07:14:19Z [Term] id: HP:0011521 name: Deuteranopia def: "Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green." [DDD:gblack] comment: Blue and red cones only; no functional green cones. synonym: "Green-blind" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D003117 xref: SNOMEDCT_US:246674000 xref: SNOMEDCT_US:77479002 xref: UMLS:C0155016 is_a: HP:0000642 ! Red-green dyschromatopsia is_a: HP:0011518 ! Dichromacy created_by: peter creation_date: 2012-04-06T07:34:40Z [Term] id: HP:0011522 name: Protanopia def: "Blue and green cones only; no functional red cones." [DDD:gblack] synonym: "Red-blind" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D003117 xref: SNOMEDCT_US:51445007 xref: UMLS:C0155015 is_a: HP:0000642 ! Red-green dyschromatopsia is_a: HP:0011518 ! Dichromacy created_by: peter creation_date: 2012-04-06T07:45:06Z [Term] id: HP:0011523 name: Iris cyst def: "An iris cyst is composed of a single cell layer of epithelium and is filled with fluid." [DDD:gblack] xref: SNOMEDCT_US:37761009 xref: UMLS:C0271119 is_a: HP:0000525 ! Abnormality iris morphology created_by: peter creation_date: 2012-04-06T09:05:29Z [Term] id: HP:0011524 name: Iris melanoma def: "Malignant tumor of melanocytes affecting the iris." [DDD:ncarter] xref: NCIT:C3224 xref: SNOMEDCT_US:255012009 xref: UMLS:C0346373 is_a: HP:0000525 ! Abnormality iris morphology is_a: HP:0007716 ! Uveal melanoma created_by: peter creation_date: 2012-04-06T09:06:41Z [Term] id: HP:0011525 name: Iris nevus def: "A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated." [DDD:ncarter] synonym: "Eye freckle" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:95711003 xref: UMLS:C0346376 is_a: HP:0000525 ! Abnormality iris morphology created_by: peter creation_date: 2012-04-06T09:11:42Z [Term] id: HP:0011526 name: Abnormality of lens shape def: "An abnormal shape of the lens." [HPO:probinson] synonym: "Abnormality of lens shape" EXACT layperson [] xref: UMLS:C4023314 is_a: HP:0000517 ! Abnormality of the lens created_by: peter creation_date: 2012-04-06T09:16:11Z [Term] id: HP:0011527 name: Lentiglobus def: "Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging." [DDD:gblack] subset: hposlim_core synonym: "Bulging of eye lens" BROAD layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:419281007 xref: UMLS:C1622439 xref: UMLS:C4280322 is_a: HP:0011526 ! Abnormality of lens shape created_by: peter creation_date: 2012-04-06T09:17:01Z [Term] id: HP:0011528 name: Solitary congenital hypertrophy of retinal pigment epithelium def: "Sharply demarcated hyperpigmentation which is congenital found in around 3-5% of the population and of no functional significance." [DDD:gblack] synonym: "Single isolated CHRPE" EXACT [] synonym: "Single isolated congenital hypertrophy of retinal pigment epithelium" EXACT [] xref: UMLS:C4021145 is_a: HP:0007649 ! Congenital hypertrophy of retinal pigment epithelium created_by: peter creation_date: 2012-04-06T09:24:44Z [Term] id: HP:0011529 name: Multiple bilateral congenital hypertrophy of retinal pigment epithelium def: "Sharply demarcated hyperpigmentation which is congenital." [DDD:gblack] comment: Bilateral multiple CHRPE is strongly associated with familial adenomatous polyposis coli. synonym: "Multiple bilateral CHRPE" EXACT HP:0045077 [] xref: UMLS:C4021144 is_a: HP:0007649 ! Congenital hypertrophy of retinal pigment epithelium created_by: peter creation_date: 2012-04-06T09:25:33Z [Term] id: HP:0011530 name: Retinal hole def: "A small break in the retina." [HPO:probinson] comment: A retinal hole can be asymptomatic or can lead to the sudden appearance of many floaters or flashes, blurry, or wavy vision, or of a a dark shadow or curtain in the peripheral visual field. synonym: "Retinal holes" EXACT [HPO:skoehler] xref: MSH:D012167 xref: SNOMEDCT_US:232003005 xref: SNOMEDCT_US:302888003 xref: SNOMEDCT_US:40024006 xref: SNOMEDCT_US:95690009 xref: UMLS:C0035321 is_a: HP:0011958 ! Retinal perforation created_by: peter creation_date: 2012-04-06T09:39:01Z [Term] id: HP:0011531 name: Vitritis def: "Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity." [HPO:probinson] subset: hposlim_core synonym: "Hyalitis" EXACT [] synonym: "Vitreitis" EXACT [] xref: SNOMEDCT_US:95802009 xref: UMLS:C0235812 is_a: HP:0004327 ! Abnormal vitreous humor morphology created_by: peter creation_date: 2012-04-07T08:21:01Z [Term] id: HP:0011532 name: Subretinal exudate def: "A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium." [HPO:probinson] xref: SNOMEDCT_US:247156002 xref: UMLS:C0423431 is_a: HP:0001147 ! Retinal exudate created_by: peter creation_date: 2012-04-07T09:21:46Z [Term] id: HP:0011533 name: Snowflake vitreoretinal degeneration def: "The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous." [DDD:ncarter, PMID:18179896] synonym: "Snowflake retinal degeneration" EXACT [] xref: MSH:C536677 xref: UMLS:C1860405 is_a: HP:0007769 ! Peripheral retinal degeneration is_a: HP:0007773 ! Vitreoretinopathy created_by: peter creation_date: 2012-04-07T09:52:37Z [Term] id: HP:0011534 name: Abnormal spatial orientation of the cardiac segments def: "Abnormality of the spatial relationship of the cardiac segments to other components of the heart." [] xref: UMLS:C4023313 is_a: HP:0001627 ! Abnormal heart morphology created_by: peter creation_date: 2012-04-07T10:27:48Z [Term] id: HP:0011535 name: Abnormal atrial arrangement def: "Abnormality of the spatial relationship of the atria to other components of the heart." [DDD:dbrown] synonym: "Abnormal location of heart atrium" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:445898001 xref: UMLS:C2959688 is_a: HP:0005120 ! Abnormal cardiac atrium morphology is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments created_by: peter creation_date: 2012-04-07T10:31:16Z [Term] id: HP:0011536 name: Right atrial isomerism def: "Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest." [DDD:dbrown, pmid:3408620] xref: MSH:D059446 xref: UMLS:C3178806 is_a: HP:0011535 ! Abnormal atrial arrangement is_a: HP:0031855 ! Right isomerism created_by: peter creation_date: 2012-04-07T10:36:52Z [Term] id: HP:0011537 name: Left atrial isomerism def: "In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest." [DDD:dbrown, pmid:3408620] comment: Left and right hand side atria have left atrial morphology. xref: EPCC:03.01.05 xref: ICD-10:Q20.6 xref: MSH:D059446 xref: UMLS:C3178807 is_a: HP:0011535 ! Abnormal atrial arrangement is_a: HP:0031854 ! Left Isomerism created_by: peter creation_date: 2012-04-07T10:37:51Z [Term] id: HP:0011538 name: Atrial situs inversus def: "Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side." [DDD:dbrown] xref: EPCC:03.01.03 xref: Fyler:0150 xref: Fyler:150 xref: ICD-10:Q89.3 xref: UMLS:C4023312 is_a: HP:0011535 ! Abnormal atrial arrangement created_by: peter creation_date: 2012-04-07T10:40:16Z [Term] id: HP:0011539 name: Atrial situs ambiguous def: "Common atrium without defining morphologic features." [DDD:dbrown] synonym: "Atrial heterotaxy" EXACT [ORCID:0000-0001-6908-9849] synonym: "Atrial situs ambiguus" EXACT [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:448681000 xref: UMLS:C3164429 is_a: HP:0011535 ! Abnormal atrial arrangement created_by: peter creation_date: 2012-04-07T10:43:42Z [Term] id: HP:0011540 name: Congenitally corrected transposition of the great arteries def: "The essence of the lesion is the combination of discordant atrioventricular and ventriculo-arterial connections. Thus, the morphologically right atrium is connected to a morphologically left ventricle across the mitral valve, with the left ventricle then connected to the pulmonary trunk. The morphologically left atrium is connected to the morphologically right ventricle across the tricuspid valve, with the morphologically right ventricle connected to the aorta." [DDD:dbrown, pmid:21569592] synonym: "L-transposition" RELATED [] synonym: "Ventricular inversion" RELATED [] xref: EPCC:01.01.03 xref: ICD-10:Q20.5 xref: MSH:C535426 xref: SNOMEDCT_US:56743000 xref: SNOMEDCT_US:83799000 xref: UMLS:C0232301 xref: UMLS:C0344616 is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments is_a: HP:0011603 ! Congenital malformation of the great arteries created_by: peter creation_date: 2012-04-07T10:48:56Z [Term] id: HP:0011541 name: Criss-cross atrioventricular valves def: "Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis." [DDD:dbrown, HPO:probinson] xref: UMLS:C4023310 is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments created_by: peter creation_date: 2012-04-07T10:51:57Z [Term] id: HP:0011542 name: Criss-cross atrioventricular valves with superior-inferior ventricles def: "Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side." [PMID:11789809] xref: UMLS:C4023309 is_a: HP:0011541 ! Criss-cross atrioventricular valves created_by: peter creation_date: 2012-04-07T10:55:06Z [Term] id: HP:0011543 name: Superior-inferior ventricles without criss-cross atrioventricular valves xref: Fyler:0184 xref: Fyler:184 xref: UMLS:C4023308 is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments created_by: peter creation_date: 2012-04-07T10:56:21Z [Term] id: HP:0011544 name: L-looping of the right ventricle xref: UMLS:C4023307 is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments created_by: peter creation_date: 2012-04-07T11:20:04Z [Term] id: HP:0011545 name: Abnormal connection of the cardiac segments def: "A deviance in the normal connections between two cardiac segements." [PMID:24876921] synonym: "Discordant connection of the cardiac segments" EXACT [] xref: UMLS:C4023306 is_a: HP:0001627 ! Abnormal heart morphology created_by: peter creation_date: 2012-04-07T11:24:25Z [Term] id: HP:0011546 name: Abnormal atrioventricular connection def: "An abnormality of the circulatory connection between atria and ventricles." [DDD:dbrown] xref: SNOMEDCT_US:253274005 xref: UMLS:C0344612 is_a: HP:0011545 ! Abnormal connection of the cardiac segments created_by: peter creation_date: 2012-04-07T11:27:57Z [Term] id: HP:0011547 name: Absent left sided atrioventricular connection def: "A defect where there is no connection between the left atrium and left ventricle." [PMID:7104116] xref: SNOMEDCT_US:253290005 xref: UMLS:C0344629 is_a: HP:0011546 ! Abnormal atrioventricular connection created_by: peter creation_date: 2012-04-07T11:30:16Z [Term] id: HP:0011548 name: Absent right sided atrioventricular connection def: "A defect where there is no connection between the right atrium and right ventricle." [PMID:7104116] xref: SNOMEDCT_US:253285007 xref: UMLS:C0344624 is_a: HP:0011546 ! Abnormal atrioventricular connection created_by: peter creation_date: 2012-04-07T11:30:44Z [Term] id: HP:0011549 name: Univentricular heart with absent left sided atrioventricular connection xref: UMLS:C4023305 is_a: HP:0011547 ! Absent left sided atrioventricular connection created_by: peter creation_date: 2012-04-07T11:31:18Z [Term] id: HP:0011550 name: Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection xref: UMLS:C4023304 is_a: HP:0011547 ! Absent left sided atrioventricular connection created_by: peter creation_date: 2012-04-07T11:32:09Z [Term] id: HP:0011551 name: Right sided atrium to left ventricle and absent left sided atrioventricular connection xref: UMLS:C4023303 is_a: HP:0011547 ! Absent left sided atrioventricular connection created_by: peter creation_date: 2012-04-07T11:32:53Z [Term] id: HP:0011552 name: Ambiguous atrioventricular connection def: "With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle)." [DDD:dbrown, HPO:probinson] xref: SNOMEDCT_US:253278008 xref: UMLS:C0344617 is_a: HP:0011546 ! Abnormal atrioventricular connection created_by: peter creation_date: 2012-04-07T11:33:24Z [Term] id: HP:0011553 name: Discordant atrioventricular connection def: "Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart." [DDD:dbrown, HPO:probinson, PMID:23804932] xref: SNOMEDCT_US:253277003 xref: UMLS:C0344615 is_a: HP:0011546 ! Abnormal atrioventricular connection created_by: peter creation_date: 2012-04-07T11:47:06Z [Term] id: HP:0011554 name: Double inlet atrioventricular connection def: "The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve." [DDD:dbrown, HPO:probinson] xref: EPCC:01.01.14 xref: ICD-10:Q20.4 xref: UMLS:C4023302 is_a: HP:0011546 ! Abnormal atrioventricular connection created_by: peter creation_date: 2012-04-07T11:49:32Z [Term] id: HP:0011555 name: Double inlet left ventricle def: "The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual." [DDD:dbrown, HPO:probinson] xref: EPCC:01.04.04 xref: ICD-10:Q20.4 xref: SNOMEDCT_US:253283000 xref: UMLS:C0344622 is_a: HP:0001750 ! Single ventricle is_a: HP:0011554 ! Double inlet atrioventricular connection created_by: peter creation_date: 2012-04-07T11:53:33Z [Term] id: HP:0011556 name: Double inlet right ventricle def: "The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic." [DDD:dbrown, HPO:probinson] xref: EPCC:01.04.03 xref: ICD-10:Q20.4 xref: SNOMEDCT_US:253282005 xref: UMLS:C0344621 is_a: HP:0001750 ! Single ventricle is_a: HP:0011554 ! Double inlet atrioventricular connection created_by: peter creation_date: 2012-04-07T11:57:14Z [Term] id: HP:0011557 name: Double inlet to single ventricle of indeterminate morphology def: "The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. The morphology of this ventricle does not allow one to determine if it corresponds to the left or right ventricle." [DDD:dbrown, HPO:probinson] xref: UMLS:C4023301 is_a: HP:0001750 ! Single ventricle is_a: HP:0011554 ! Double inlet atrioventricular connection created_by: peter creation_date: 2012-04-07T12:00:21Z [Term] id: HP:0011558 name: Double inlet to single ventricle with common atrioventricular orifice xref: UMLS:C4023300 is_a: HP:0011557 ! Double inlet to single ventricle of indeterminate morphology created_by: peter creation_date: 2012-04-07T12:02:03Z [Term] id: HP:0011559 name: Double inlet to single ventricle with two atrioventricular valves xref: UMLS:C4023299 is_a: HP:0011557 ! Double inlet to single ventricle of indeterminate morphology created_by: peter creation_date: 2012-04-07T12:02:15Z [Term] id: HP:0011560 name: Mitral atresia def: "A congenital defect with failure to open of the mitral valve orifice." [DDD:dbrown] synonym: "Mitral valve atresia" EXACT [] xref: EPCC:06.02.01 xref: Fyler:0310 xref: Fyler:310 xref: ICD-10:Q23.2 xref: SNOMEDCT_US:23063005 xref: UMLS:C0344760 is_a: HP:0001633 ! Abnormal mitral valve morphology is_a: HP:0011546 ! Abnormal atrioventricular connection created_by: peter creation_date: 2012-04-07T12:04:11Z [Term] id: HP:0011561 name: Overriding atrioventricular valve def: "An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect." [DDD:dbrown, HPO:probinson, PMID:7295418] comment: Straddling and overriding atrioventricular valves usually occur in combination. xref: UMLS:C4023298 is_a: HP:0011546 ! Abnormal atrioventricular connection created_by: peter creation_date: 2012-04-07T12:09:28Z [Term] id: HP:0011562 name: Straddling atrioventricular valve def: "Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect." [DDD:dbrown, HPO:probinson, PMID:7295418] comment: Straddling and overriding atrioventricular valves usually occur in combination. xref: UMLS:C4023297 is_a: HP:0011546 ! Abnormal atrioventricular connection created_by: peter creation_date: 2012-04-07T12:13:57Z [Term] id: HP:0011563 name: Abnormal ventriculoarterial connection def: "An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta." [PMID:15227248, PMID:18805185, PMID:24750982] comment: The cardiac malformations with abnormal ventriculo-arterial connections in situs solitus and atrio-ventricular concordance include the tetralogy of Fallot as well as different forms of double-outlet right ventricle and transposition of the great arteries. synonym: "Abnormal ventriculo-arterial connection" EXACT [] xref: UMLS:C4023296 is_a: HP:0011545 ! Abnormal connection of the cardiac segments created_by: peter creation_date: 2012-04-08T07:32:38Z [Term] id: HP:0011564 name: Mitral valve arcade def: "Anomalous mitral valve arcade is diagnosed based on the following features (1) An adequately sized mitral valve orifice; (2) short, thick, and poorly differentiated chordae with direct union of the papillary muscles to the anterior leaflet; (3) narrow or nearly nonexistent spaces between the abnormal chordae; and (4) greater differentiation of the chordae attached to the posterior papillary muscle." [DDD:dbrown, pmid:20404264] synonym: "Hammock mitral valve" EXACT [] xref: UMLS:C4021143 is_a: HP:0001633 ! Abnormal mitral valve morphology created_by: peter creation_date: 2012-04-08T10:03:28Z [Term] id: HP:0011565 name: Common atrium def: "Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections." [DDD:dbrown, HPO:probinson] synonym: "Single atrium" EXACT [ORCID:0000-0001-6908-9849] xref: Fyler:1140 xref: ICD-10:Q21.2 xref: SNOMEDCT_US:253276007 xref: UMLS:C0392482 is_a: HP:0005120 ! Abnormal cardiac atrium morphology created_by: peter creation_date: 2012-04-08T07:50:05Z [Term] id: HP:0011566 name: Cor triatriatum dexter def: "A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue." [DDD:dbrown, HPO:probinson, pmid:17948095] comment: Cor triatriatum dexter is a Latin phrase meaning that the heart (cor) has three atria (triatriatum) whereby the 'third' atrium is on the right (dexter) side. synonym: "Cor triatriatum dextrum" EXACT [ORCID:0000-0001-5208-3432] xref: Fyler:2854 xref: SNOMEDCT_US:274947007 xref: UMLS:C0344697 is_a: HP:0010774 ! Cor triatriatum created_by: peter creation_date: 2012-04-08T08:02:56Z [Term] id: HP:0011567 name: Sinus venosus atrial septal defect def: "An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting." [DDD:dbrown, HPO:probinson, pmid:16172274] xref: Fyler:2010 xref: ICD-10:Q21.1 xref: MSH:C548009 xref: SNOMEDCT_US:95268002 xref: UMLS:C0344730 is_a: HP:0001631 ! Atrial septal defect created_by: peter creation_date: 2012-04-08T08:15:24Z [Term] id: HP:0011568 name: Double orifice mitral valve def: "The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue." [DDD:dbrown, HPO:probinson, pmid:20851840] comment: In about 50% of Double orifice mitral valve (DOMV) cases, valvular function is normal, others present with stenosis or regurgitation. In most cases, a larger orifice is accompanied by a small eccentric accessory orifice, and some show duplicated mitral valves. Embryologically, the lesion results from abnormal leaflet fusion and persistence of the left part of the common atrio-ventricular canal. xref: SNOMEDCT_US:253402005 xref: UMLS:C0344770 is_a: HP:0001633 ! Abnormal mitral valve morphology created_by: peter creation_date: 2012-04-08T08:29:48Z [Term] id: HP:0011569 name: Cleft anterior mitral valve leaflet def: "Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect." [DDD:dbrown, pmid:6829465] xref: UMLS:C4023295 is_a: HP:0031480 ! Abnormal mitral valve leaflet morphology created_by: peter creation_date: 2012-04-08T08:40:46Z [Term] id: HP:0011570 name: Congenital mitral stenosis def: "Mitral stenosis with congenital onset." [DDD:dbrown] xref: SNOMEDCT_US:82458004 xref: UMLS:C0158618 is_a: HP:0001718 ! Mitral stenosis created_by: peter creation_date: 2012-04-08T08:46:46Z [Term] id: HP:0011571 name: Parachute mitral valve def: "Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles." [DDD:dbrown] xref: SNOMEDCT_US:204362007 xref: UMLS:C0546965 is_a: HP:0025523 ! Abnormal morphology of the chordae tendinae of the mitral valve created_by: peter creation_date: 2012-04-08T08:47:46Z [Term] id: HP:0011572 name: Supramitral ring def: "A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve." [DDD:dbrown] synonym: "Membranous supravalvular mitral stenosis" EXACT [] synonym: "Supravalvular mitral ring" EXACT [] xref: UMLS:C4021142 is_a: HP:0001633 ! Abnormal mitral valve morphology created_by: peter creation_date: 2012-04-08T08:49:07Z [Term] id: HP:0011573 name: Hypoplastic tricuspid valve def: "Congenital defect characterized by underdevelopment of the tricuspid valve." [DDD:dbrown] synonym: "Tricuspid valve hypoplasia" EXACT [] synonym: "Underdeveloped tricuspid valve" EXACT [ORCID:0000-0001-6908-9849] xref: Fyler:1720 xref: UMLS:C4023294 is_a: HP:0001702 ! Abnormal tricuspid valve morphology created_by: peter creation_date: 2012-04-08T10:22:38Z [Term] id: HP:0011574 name: Imperforate atrioventricular valve def: "An atrioventricular valve that has failed to open (atretic)." [DDD:dbrown] synonym: "Unopened atrioventricular valve" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4023293 is_a: HP:0006705 ! Abnormal atrioventricular valve morphology created_by: peter creation_date: 2012-04-08T10:35:25Z [Term] id: HP:0011575 name: Imperforate tricuspid valve def: "A tricuspid valve that has failed to open." [DDD:dbrown, PMID:7066117] comment: Imperforate valve is distinct from atretic valve. The hallmark of an imperforate valve is that it provides potential communication between an atrium and a ventricle. It exists as fused valve leaflets usually possessing their own hypoplastic tensor apparatus. The presence of an imperforate valve may have important surgical implications. Imperforate valve is in contrast to atretic valve with an absent atrioventricular connection. The cornerstone of the diagnosis of an imperformate valve is the identification of a thin mobile membrane between an atrium and a ventrile and the recognition of the tensor apparatus of the valve. In most cases the tensor apparatusis hypoplastic and it maynot be possible to delineate it by echocardiography. synonym: "Unopened tricuspid valve" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4023292 is_a: HP:0001702 ! Abnormal tricuspid valve morphology is_a: HP:0011574 ! Imperforate atrioventricular valve created_by: peter creation_date: 2012-04-08T10:37:55Z [Term] id: HP:0011576 name: Intermediate atrioventricular canal defect def: "A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices." [DDD:dbrown] synonym: "Intermediate atrioventricular septal defect" EXACT [] xref: Fyler:1121 xref: UMLS:C4023291 is_a: HP:0006695 ! Atrioventricular canal defect created_by: peter creation_date: 2012-04-08T10:56:04Z [Term] id: HP:0011577 name: Partial atrioventricular canal defect def: "A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices." [DDD:dbrown] xref: SNOMEDCT_US:718216009 xref: UMLS:C4023290 is_a: HP:0006695 ! Atrioventricular canal defect created_by: peter creation_date: 2012-04-08T10:57:14Z [Term] id: HP:0011578 name: Transitional atrioventricular canal defect def: "A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and an inlet ventricular septal defect. There are two valve annuli and two valve orifices." [DDD:dbrown] xref: UMLS:C4023289 is_a: HP:0006695 ! Atrioventricular canal defect created_by: peter creation_date: 2012-04-08T10:58:47Z [Term] id: HP:0011579 name: Unbalanced atrioventricular canal defect def: "Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced)." [DDD:dbrown, pmid:20837915] synonym: "Unbalanced atrioventricular septal defect" EXACT [] xref: UMLS:C3280940 is_a: HP:0006695 ! Atrioventricular canal defect created_by: peter creation_date: 2012-04-08T11:02:44Z [Term] id: HP:0011580 name: Short chordae tendineae of the mitral valve def: "Abnormally short chordae tendineae of the mitral valve." [HPO:probinson] comment: The chordae tendineae connect the papillary muscles to the tricuspid valve and the mitral valve in the heart. xref: UMLS:C4023288 is_a: HP:0025523 ! Abnormal morphology of the chordae tendinae of the mitral valve created_by: peter creation_date: 2012-04-08T12:01:44Z [Term] id: HP:0011581 name: Double outlet left ventricle def: "A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle." [HPO:probinson] xref: Fyler:0650 xref: Fyler:650 xref: ICD-10:Q20.2 xref: SNOMEDCT_US:7368005 xref: UMLS:C0265809 is_a: HP:0001711 ! Abnormal left ventricle morphology created_by: peter creation_date: 2012-04-08T12:37:48Z [Term] id: HP:0011582 name: Abdominal ectopia cordis def: "Displacement of the heart outside the thoracic cavity and into the abdomen." [DDD:dbrown] xref: UMLS:C4023287 is_a: HP:0001683 ! Ectopia cordis created_by: peter creation_date: 2012-04-08T01:10:32Z [Term] id: HP:0011583 name: Cervical ectopia cordis def: "A type of ectopia cordis with the heart partially in the cervical region and without a defect of the sternum." [DDD:dbrown, HPO:probinson] comment: This type of ectopia cordis presumably represents a retention of the heart in its embryonic position in the neck. xref: UMLS:C4023286 is_a: HP:0001683 ! Ectopia cordis created_by: peter creation_date: 2012-04-08T01:11:40Z [Term] id: HP:0011584 name: Thoracocervical ectopia cordis def: "A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum." [DDD:dbrown, HPO:probinson] xref: UMLS:C4023285 is_a: HP:0001683 ! Ectopia cordis created_by: peter creation_date: 2012-04-08T01:12:42Z [Term] id: HP:0011585 name: Thoracic ectopia cordis def: "Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum." [DDD:dbrown, HPO:probinson] xref: UMLS:C4023284 is_a: HP:0001683 ! Ectopia cordis created_by: peter creation_date: 2012-04-08T01:13:18Z [Term] id: HP:0011586 name: Thoracoabdominal ectopia cordis def: "Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity." [DDD:dbrown, HPO:probinson, pmid:19479716] comment: In many cases, thoracicoabdominal ectopia cordis is characterized by partial absence or cleft of the sternum, deficiency of the anterior diaphragm, deficiency of the diaphragmatic pericardium, midline abdominal wall defect, and congenital intracardiac abnormalities. These five characteristics comprise the pentalogy of Cantrell. xref: UMLS:C4023283 is_a: HP:0001683 ! Ectopia cordis created_by: peter creation_date: 2012-04-08T01:13:52Z [Term] id: HP:0011587 name: Abnormal branching pattern of the aortic arch def: "A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries." [DDD:dbrown] comment: The normal aortic arch crosses the left mainstem bronchus and descends in the left paravertebral gutter. The coronary arteries arise from the aortic sinuses. The first branch of the aorta is normally the right brachiocephalic artery, then the left common carotid artery, then the left subclavian artery. Abnormal branching refers to any deviance from the norm of the origin or course of these branches or the proximal vertebral arteries. An anomaly of the aortic arch that results in complete encirclement of the trachea and oesophagus by vascular structures is a vascular ring. xref: UMLS:C4023282 is_a: HP:0012303 ! Abnormal aortic arch morphology created_by: peter creation_date: 2012-04-08T01:34:42Z [Term] id: HP:0011588 name: Cervical aortic arch def: "The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta." [DDD:dbrown] xref: SNOMEDCT_US:253657003 xref: UMLS:C0345065 is_a: HP:0011587 ! Abnormal branching pattern of the aortic arch created_by: peter creation_date: 2012-04-08T01:37:51Z [Term] id: HP:0011589 name: Common origin of the right brachiocephalic artery and left common carotid artery def: "The left common carotid artery has a common origin with the innominate artery." [DDD:dbrown, HPO:probinson, pmid:17138027] comment: Commonly the three great vessels (innominate artery, left common carotid artery, and the left subclavian artery) originate from the arch of the aorta. The second most common variant of aortic arch branching occurs when the left common carotid artery has a common origin with the innominate artery. synonym: "Bovine arch" RELATED [] synonym: "Common brachiocephalic trunk" EXACT [] synonym: "Ovine arch" RELATED [] xref: SNOMEDCT_US:460890003 xref: UMLS:C3532020 xref: UMLS:C4020746 xref: UMLS:C4021141 is_a: HP:0011587 ! Abnormal branching pattern of the aortic arch created_by: peter creation_date: 2012-04-08T01:38:36Z [Term] id: HP:0011590 name: Double aortic arch def: "A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor)." [DDD:dbrown, HPO:probinson, pmid:15148283, pmid:15564538] xref: Fyler:2761 xref: SNOMEDCT_US:10451007 xref: UMLS:C0265883 is_a: HP:0011587 ! Abnormal branching pattern of the aortic arch created_by: peter creation_date: 2012-04-08T01:46:10Z [Term] id: HP:0011591 name: Left aortic arch with cervical origin of the right subclavian artery xref: UMLS:C4023281 is_a: HP:0031055 ! Abnormal branching pattern of left aortic arch created_by: peter creation_date: 2012-04-08T01:57:40Z [Term] id: HP:0011592 name: Left aortic arch with isolated subclavian artery def: "The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis." [DDD:dbrown] xref: UMLS:C4023280 is_a: HP:0031055 ! Abnormal branching pattern of left aortic arch created_by: peter creation_date: 2012-04-08T02:01:39Z [Term] id: HP:0011593 name: Left aortic arch with retroesophageal diverticulum of Kommerell def: "A patent ductus arteriosus or ductal ligament completes the ring." [DDD:dbrown] synonym: "Kommerell diverticulum" EXACT [] xref: SNOMEDCT_US:74561007 xref: UMLS:C0265885 is_a: HP:0031055 ! Abnormal branching pattern of left aortic arch created_by: peter creation_date: 2012-04-08T02:02:42Z [Term] id: HP:0011594 name: Right aortic arch with retroesophageal diverticulum of Kommerell def: "Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch." [DDD:dbrown, pmid:12075866] xref: UMLS:C4023279 is_a: HP:0012020 ! Right aortic arch created_by: peter creation_date: 2012-04-08T02:07:10Z [Term] id: HP:0011595 name: Left aortic arch with retroesophageal right subclavian artery def: "Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body." [DDD:dbrown] xref: UMLS:C4023278 is_a: HP:0031055 ! Abnormal branching pattern of left aortic arch created_by: peter creation_date: 2012-04-08T02:09:39Z [Term] id: HP:0011596 name: Left aortic arch with right descending aorta and right ductus arteriosus def: "The ring may be completed by the ductal ligament." [DDD:dbrown] xref: UMLS:C4023277 is_a: HP:0031055 ! Abnormal branching pattern of left aortic arch created_by: peter creation_date: 2012-04-08T02:10:48Z [Term] id: HP:0011597 name: Right aortic arch with left descending aorta and left ductus arteriosus xref: UMLS:C4023276 is_a: HP:0012020 ! Right aortic arch created_by: peter creation_date: 2012-04-08T02:23:47Z [Term] id: HP:0011598 name: Right aortic arch with retroesophageal left subclavian artery synonym: "Right aortic arch with aberrant left subclavian artery" EXACT [] synonym: "Right aortic arch with anomalous left subclavian artery" EXACT [] xref: UMLS:C4021140 is_a: HP:0012020 ! Right aortic arch created_by: peter creation_date: 2012-04-08T02:27:16Z [Term] id: HP:0011599 name: Mesocardia def: "Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane." [DDD:dbrown, HPO:probinson] xref: Fyler:0140 xref: Fyler:140 xref: SNOMEDCT_US:16567006 xref: UMLS:C0265865 is_a: HP:0004307 ! Abnormal anatomic location of the heart created_by: peter creation_date: 2012-04-08T02:41:36Z [Term] id: HP:0011600 name: Abnormal direction of ventricular apex def: "Abnormal plane of direction of the heart from the base to the apex. Left sided is normal." [DDD:dbrown] xref: UMLS:C4023275 is_a: HP:0004307 ! Abnormal anatomic location of the heart created_by: peter creation_date: 2012-04-08T02:44:41Z [Term] id: HP:0011601 name: Rightward direction of ventricular apex def: "Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal." [DDD:dbrown] xref: UMLS:C4023274 is_a: HP:0011600 ! Abnormal direction of ventricular apex created_by: peter creation_date: 2012-04-08T02:46:32Z [Term] id: HP:0011602 name: Midline direction of ventricular apex def: "Abnormal plane of direction of the heart from the base to the apex in the midline. Left sided is normal." [DDD:dbrown] xref: UMLS:C4023273 is_a: HP:0011600 ! Abnormal direction of ventricular apex created_by: peter creation_date: 2012-04-08T02:47:52Z [Term] id: HP:0011603 name: Congenital malformation of the great arteries def: "Defect or defects of the morphogenesis of the aorta and pulmonary arteries." [] xref: UMLS:C0478012 is_a: HP:0030962 ! Abnormal morphology of the great vessels created_by: peter creation_date: 2012-04-08T02:51:09Z [Term] id: HP:0011604 name: Aortopulmonary window def: "A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt." [DDD:dbrown, HPO:probinson] xref: Fyler:0560 xref: Fyler:560 xref: MSH:D001028 xref: SNOMEDCT_US:17024001 xref: UMLS:C0003516 is_a: HP:0011603 ! Congenital malformation of the great arteries created_by: peter creation_date: 2012-04-08T02:52:38Z [Term] id: HP:0011605 name: Congenitally corrected transposition of the great arteries with ventricular septal defect def: "A congenitally corrected transposition of the great arteries with a ventricular septal defect: a hole between the two bottom chambers (ventricles) of the heart. The ventricular septal defect is centered around the most superior aspect of the ventricular septum." [PMID:21569592] xref: UMLS:C4023272 is_a: HP:0011540 ! Congenitally corrected transposition of the great arteries created_by: peter creation_date: 2012-04-08T02:55:06Z [Term] id: HP:0011606 name: obsolete Transposition of the great arteries with intact ventricular septum is_obsolete: true consider: HP:0001669 [Term] id: HP:0011607 name: obsolete Transposition of the great arteries with ventricular septal defect is_obsolete: true consider: HP:0001669 [Term] id: HP:0011608 name: Type II truncus arteriosus def: "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus." [DDD:dbrown, HPO:probinson] comment: According to the Van Praagh classification (pmid:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect. synonym: "Persistent truncus arteriosus type II" EXACT [] synonym: "Type 2 truncus arteriosus" EXACT [] xref: Fyler:0520 xref: Fyler:520 xref: UMLS:C4021137 is_a: HP:0001660 ! Truncus arteriosus created_by: peter creation_date: 2012-04-08T03:03:51Z [Term] id: HP:0011609 name: Type III truncus arteriosus def: "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby one of the two pulmonary artery branched does not arise from the common pulmonary trunk, but instead from the ductus arteriosus or directly from the aorta." [DDD:dbrown, HPO:probinson] comment: According to the Van Praagh classification (pmid:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect. synonym: "Persistent truncus arteriosus type III" EXACT [] synonym: "Type 3 truncus arteriosus" EXACT [] xref: Fyler:0530 xref: Fyler:530 xref: UMLS:C4021136 is_a: HP:0001660 ! Truncus arteriosus created_by: peter creation_date: 2012-04-08T03:08:53Z [Term] id: HP:0011610 name: Type IV truncus arteriosus def: "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present." [DDD:dbrown, HPO:probinson] comment: According to the Van Praagh classification (pmid:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect. synonym: "Persistent truncus arteriosus type IV" EXACT [] synonym: "Type 4 truncus arteriosus" EXACT [] xref: Fyler:0540 xref: Fyler:540 xref: UMLS:C4021135 is_a: HP:0001660 ! Truncus arteriosus created_by: peter creation_date: 2012-04-08T03:11:07Z [Term] id: HP:0011611 name: Interrupted aortic arch alt_id: HP:0006680 def: "Non-continuity of the arch of aorta with an atretic point or absent segment." [DDD:dbrown] synonym: "Aortic arch obstruction" RELATED [] synonym: "Atretic transverse aortic arch" EXACT [] xref: Fyler:1241 xref: Fyler:1250 xref: SNOMEDCT_US:218728005 xref: UMLS:C0152419 is_a: HP:0012303 ! Abnormal aortic arch morphology created_by: peter creation_date: 2012-04-08T03:17:10Z [Term] id: HP:0011612 name: Interrupted aortic arch type A def: "Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus." [DDD:dbrown] xref: SNOMEDCT_US:253681005 xref: UMLS:C0345092 is_a: HP:0011611 ! Interrupted aortic arch created_by: peter creation_date: 2012-04-08T03:18:18Z [Term] id: HP:0011613 name: Interrupted aortic arch type B def: "Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries." [DDD:dbrown] synonym: "Interrupted aortic arch, type b" EXACT [] xref: Fyler:1252 xref: SNOMEDCT_US:253682003 xref: UMLS:C0345093 is_a: HP:0011611 ! Interrupted aortic arch created_by: peter creation_date: 2012-04-08T03:18:58Z [Term] id: HP:0011614 name: Interrupted aortic arch type C def: "Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries." [DDD:dbrown] xref: SNOMEDCT_US:253683008 xref: UMLS:C0345094 is_a: HP:0011611 ! Interrupted aortic arch created_by: peter creation_date: 2012-04-08T03:19:48Z [Term] id: HP:0011615 name: Abnormal pulmonary situs morphology def: "An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi." [DDD:dbrown] synonym: "Abnormality of pulmonary situs" EXACT [] xref: UMLS:C4023271 is_a: HP:0012252 ! Abnormal respiratory system morphology created_by: peter creation_date: 2012-04-08T09:20:13Z [Term] id: HP:0011616 name: Pulmonary situs inversus def: "Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus." [DDD:dbrown] xref: UMLS:C4023270 is_a: HP:0011615 ! Abnormal pulmonary situs morphology created_by: peter creation_date: 2012-04-08T09:23:21Z [Term] id: HP:0011617 name: Pulmonary situs ambiguus def: "An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same." [DDD:dbrown] xref: UMLS:C4023269 is_a: HP:0011615 ! Abnormal pulmonary situs morphology created_by: peter creation_date: 2012-04-08T09:24:21Z [Term] id: HP:0011618 name: Pulmonary situs ambiguus with bilateral morphologic right lungs def: "An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a right lung." [DDD:dbrown, HPO:probinson] xref: UMLS:C4023268 is_a: HP:0011617 ! Pulmonary situs ambiguus created_by: peter creation_date: 2012-04-08T09:25:35Z [Term] id: HP:0011619 name: Pulmonary situs ambiguus with bilateral morphologic left lungs def: "An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a left lung." [DDD:dbrown] xref: UMLS:C4023267 is_a: HP:0011617 ! Pulmonary situs ambiguus created_by: peter creation_date: 2012-04-08T09:26:18Z [Term] id: HP:0011620 name: Abnormality of abdominal situs def: "An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs." [DDD:dbrown] xref: UMLS:C4023266 is_a: HP:0002012 ! Abnormality of the abdominal organs is_a: HP:0030853 ! Heterotaxy created_by: peter creation_date: 2012-04-08T09:30:05Z [Term] id: HP:0011621 name: Gerbode ventricular septal defect def: "A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve." [DDD:dbrown, pmid:19561249] comment: Echocardiography may visualize a jet across a small defect between left ventricle and right atrium. synonym: "Left ventricular - right atrial communication" RELATED [] xref: SNOMEDCT_US:41893002 xref: UMLS:C0265812 xref: UMLS:C4023265 is_a: HP:0001629 ! Ventricular septal defect created_by: peter creation_date: 2012-04-08T09:34:01Z [Term] id: HP:0011622 name: Inlet ventricular septal defect def: "A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus." [DDD:dbrown, pmid:17101870] comment: The muscular septum is a nonplanar structure that can be divided into inlet, trabecular, and infundibular components. The inlet portion is inferioposterior to the membranous septum. It begins at the level of the atrioventricular valves and ends at their chordal attachments apically. synonym: "Atrioventricular canal type ventricular septal defect" EXACT [] synonym: "Type 3 ventricular septal defect" EXACT [] xref: Fyler:1340 xref: MSH:C535974 xref: SNOMEDCT_US:360481003 xref: UMLS:C0221215 is_a: HP:0001629 ! Ventricular septal defect created_by: peter creation_date: 2012-04-08T09:38:29Z [Term] id: HP:0011623 name: Muscular ventricular septal defect def: "The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle." [DDD:dbrown, pmid:17101870] synonym: "Type 4 ventricular septal defect" EXACT [] synonym: "Ventricular septal defect, muscular" RELATED [HPO:skoehler] xref: Fyler:1320 xref: SNOMEDCT_US:94706008 xref: UMLS:C0685707 is_a: HP:0001629 ! Ventricular septal defect created_by: peter creation_date: 2012-04-08T09:43:15Z [Term] id: HP:0011624 name: Apical muscular ventricular septal defect def: "A muscular ventricular septal defect located at the apex of the heart." [DDD:dbrown] xref: UMLS:C4023264 is_a: HP:0011623 ! Muscular ventricular septal defect created_by: peter creation_date: 2012-04-08T09:45:43Z [Term] id: HP:0011625 name: Multiple muscular ventricular septal defects def: "A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum." [PMID:22718060] synonym: "Swiss cheese ventricular septal defect" EXACT [] xref: UMLS:C4023263 is_a: HP:0011623 ! Muscular ventricular septal defect created_by: peter creation_date: 2012-04-08T09:49:03Z [Term] id: HP:0011626 name: Scimitar anomaly def: "Right pulmonary venous return to the inferior vena cava." [DDD:dbrown, pmid:16638549] synonym: "Pulmonary venolobar syndrome" EXACT [ORCID:0000-0001-6908-9849] synonym: "Scimitar syndrome" EXACT [] xref: ICD-10:Q26.8 xref: MSH:D012587 xref: SNOMEDCT_US:111323005 xref: SNOMEDCT_US:39905002 xref: UMLS:C0036400 is_a: HP:0010773 ! Partial anomalous pulmonary venous return created_by: peter creation_date: 2012-04-08T09:57:11Z [Term] id: HP:0011627 name: Aorto-ventricular tunnel def: "Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinutubular junction to the cavity of the left, or (less commonly) right ventricle." [pmid:17922908] xref: UMLS:C4023262 is_a: HP:0001679 ! Abnormal aortic morphology created_by: peter creation_date: 2012-04-09T08:29:49Z [Term] id: HP:0011628 name: Congenital defect of the pericardium def: "A developmental defect of the pericardium with congenital onset." [DDD:dbrown] xref: UMLS:C4023261 is_a: HP:0001697 ! Abnormal pericardium morphology created_by: peter creation_date: 2012-04-08T10:05:20Z [Term] id: HP:0011629 name: Total absence of the pericardium def: "No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy." [DDD:dbrown] synonym: "Absent pericardium" EXACT [ORCID:0000-0001-5208-3432] synonym: "Congenital absence of the pericardium" EXACT [ORCID:0000-0001-6908-9849] xref: Fyler:1910 xref: SNOMEDCT_US:253732001 xref: UMLS:C0345140 is_a: HP:0011628 ! Congenital defect of the pericardium created_by: peter creation_date: 2012-04-08T10:06:22Z [Term] id: HP:0011630 name: Complete diaphragmatic absence of pericardium def: "No pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart." [DDD:dbrown] xref: UMLS:C4023259 is_a: HP:0011628 ! Congenital defect of the pericardium created_by: peter creation_date: 2012-04-08T10:06:57Z [Term] id: HP:0011631 name: Complete right sided absence of pericardium def: "No pericardium is present on the righthand side of the heart. It is a congenital absence of pericardium rather than the result of a pericardectomy." [DDD:dbrown] xref: UMLS:C4023258 is_a: HP:0011628 ! Congenital defect of the pericardium created_by: peter creation_date: 2012-04-08T10:08:42Z [Term] id: HP:0011632 name: Partial right sided absence of pericardium def: "A congenital anomaly with lack of part of the pericardium on the righthand side of the heart." [DDD:dbrown] comment: A congenital anomaly and not the result of a pericardectomy. xref: UMLS:C4023257 is_a: HP:0011628 ! Congenital defect of the pericardium created_by: peter creation_date: 2012-04-08T10:09:24Z [Term] id: HP:0011633 name: Complete left sided absence of pericardium def: "A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart." [DDD:dbrown] comment: A congenital anomaly and not the result of a pericardectomy. synonym: "Absent lining around of left side of heart" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023256 is_a: HP:0011628 ! Congenital defect of the pericardium created_by: peter creation_date: 2012-04-08T10:11:03Z [Term] id: HP:0011634 name: Partial left sided absence of pericardium def: "A congenital anomaly with lack of part of the pericardium on the lefthand side of the heart." [DDD:dbrown] comment: A congenital anomaly and not the result of a pericardectomy. xref: UMLS:C4023255 is_a: HP:0011628 ! Congenital defect of the pericardium created_by: peter creation_date: 2012-04-08T10:11:59Z [Term] id: HP:0011635 name: Partial diaphragmatic absence of pericardium def: "Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart." [DDD:dbrown] xref: UMLS:C4023254 is_a: HP:0011628 ! Congenital defect of the pericardium created_by: peter creation_date: 2012-04-08T10:13:04Z [Term] id: HP:0011636 name: Abnormal coronary artery origin def: "Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries." [DDD:dbrown] xref: UMLS:C4023253 is_a: HP:0006704 ! Abnormal coronary artery morphology created_by: peter creation_date: 2012-04-09T08:32:24Z [Term] id: HP:0011637 name: Anomalous origin of coronary artery from the pulmonary artery def: "A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta." [DDD:dbrown, HPO:probinson] xref: UMLS:C4023252 is_a: HP:0011636 ! Abnormal coronary artery origin created_by: peter creation_date: 2012-04-09T08:33:57Z [Term] id: HP:0011638 name: Anomalous origin of left coronary artery from the pulmonary artery def: "Left main coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the left cusp of the aortic valve." [DDD:dbrown, HPO:probinson, PMID:27358682] comment: In this anomaly the function of the LMCA territory often requires extensive collateral formation from the RCA, which is often dilated. In the first month of life, physiologic pulmonary hypertension tends to preserve anterograde flow within the left coronary artery, and infants are usually asymptomatic. As pulmonary pressure drops, left-to-right shunting from the higher pressure left coronary arterial system to the lower pressure pulmonary arterial system occurs, and patients become symptomatic. Imaging findings may include markedly dilated collateral arteries and coronary veins. synonym: "ALCAPA" EXACT HP:0045077 [] synonym: "Anomalous left coronary artery from the pulmonary artery" EXACT [] synonym: "Bland-Garland-White syndrome" EXACT [] xref: Fyler:3101 xref: SNOMEDCT_US:450301003 xref: UMLS:C3472166 is_a: HP:0011637 ! Anomalous origin of coronary artery from the pulmonary artery created_by: peter creation_date: 2012-04-09T08:40:53Z [Term] id: HP:0011639 name: Anomalous origin of right coronary artery from the pulmonary artery def: "Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve." [DDD:dbrown, HPO:probinson] xref: SNOMEDCT_US:450300002 xref: UMLS:C3472165 is_a: HP:0011637 ! Anomalous origin of coronary artery from the pulmonary artery created_by: peter creation_date: 2012-04-09T08:41:05Z [Term] id: HP:0011640 name: Single coronary artery origin def: "The presence of a single coronary artery ostium from which both coronary arteries arise." [DDD:dbrown, HPO:probinson, pmid:4547578] xref: UMLS:C4023251 is_a: HP:0011636 ! Abnormal coronary artery origin created_by: peter creation_date: 2012-04-09T08:44:38Z [Term] id: HP:0011641 name: Coronary artery fistula def: "A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel." [DDD:dbrown, HPO:probinson, pmid:20513726] comment: Coronary artery fistulas are congenital malformations. This term does not apply to surgical fistulas. synonym: "Coronary fistula" EXACT [ORCID:0000-0001-5208-3432] xref: Fyler:2230 xref: SNOMEDCT_US:373093003 xref: UMLS:C0265898 is_a: HP:0011686 ! Abnormal coronary artery course created_by: peter creation_date: 2012-04-09T08:54:51Z [Term] id: HP:0011642 name: Abnormal coronary sinus morphology def: "An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium." [DDD:dbrown, HPO:probinson] synonym: "Abnormality of the coronary sinus" EXACT [] xref: Fyler:2840 xref: SNOMEDCT_US:253323000 xref: UMLS:C0344680 is_a: HP:0005120 ! Abnormal cardiac atrium morphology created_by: peter creation_date: 2012-04-09T09:02:09Z [Term] id: HP:0011643 name: Coronary sinus atrial septal defect def: "An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus." [DDD:dbrown, HPO:probinson, pmid:18806021] xref: ICD-10:Q21.1 xref: UMLS:C2063331 is_a: HP:0011642 ! Abnormal coronary sinus morphology created_by: peter creation_date: 2012-04-09T09:07:42Z [Term] id: HP:0011644 name: Coronary sinus diverticulum def: "A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus." [DDD:dbrown, pmid:3138904] synonym: "Diverticulum of the coronary sinus" EXACT [] xref: SNOMEDCT_US:447661004 xref: UMLS:C3163894 is_a: HP:0011642 ! Abnormal coronary sinus morphology created_by: peter creation_date: 2012-04-09T09:12:28Z [Term] id: HP:0011645 name: Dilatation of the sinus of Valsalva def: "Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve." [UBERON_0003707] comment: Aneurysm is considered a severe form of dilatation. synonym: "Aneurysm of the aortic sinus" NARROW [ORCID:0000-0001-6908-9849] synonym: "Aortic sinus aneurysm" EXACT [] synonym: "Sinus of Valsalva aneurysm" NARROW [] xref: Fyler:2316 xref: SNOMEDCT_US:54160000 xref: UMLS:C2239253 is_a: HP:0004970 ! Ascending tubular aorta aneurysm created_by: peter creation_date: 2012-04-09T09:31:57Z [Term] id: HP:0011646 name: Juxtaductal coarctation of the aorta def: "Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch." [DDD:dbrown, HPO:probinson] comment: Juxtaductal coarctation usually presents when the ductus arteriosus closes. xref: UMLS:C4023250 is_a: HP:0012305 ! Coarctation of the descending aortic arch created_by: peter creation_date: 2012-04-09T09:41:05Z [Term] id: HP:0011647 name: Postductal coarctation of the aorta def: "Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch." [DDD:dbrown] comment: Blood flow to the aorta distal to the coarctation may be dependent on a patent ductus arteriosus, and hence closure of the ductus arteriosus can lead to serious ischemia of the affected tissues. synonym: "Postductal aortic coarctation" EXACT [] xref: SNOMEDCT_US:72242008 xref: UMLS:C0265879 is_a: HP:0012305 ! Coarctation of the descending aortic arch created_by: peter creation_date: 2012-04-09T09:49:36Z [Term] id: HP:0011648 name: Patent ductus arteriosus after birth at term def: "Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater." [DDD:dbrown] xref: UMLS:C4023249 is_a: HP:0001643 ! Patent ductus arteriosus created_by: peter creation_date: 2012-04-09T09:58:35Z [Term] id: HP:0011649 name: Patent ductus arteriosus after premature birth def: "Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation." [DDD:dbrown] xref: UMLS:C4023248 is_a: HP:0001643 ! Patent ductus arteriosus created_by: peter creation_date: 2012-04-09T09:59:59Z [Term] id: HP:0011650 name: Bilateral ductus arteriosus def: "The presence of both a left and a right ductus arteriosus." [DDD:dbrown] synonym: "Bilateral ductus botalli" EXACT [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:461093009 xref: UMLS:C0431501 is_a: HP:0001643 ! Patent ductus arteriosus created_by: peter creation_date: 2012-04-09T10:00:51Z [Term] id: HP:0011651 name: Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis def: "A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:6193702] synonym: "DORV with doubly committed VSD and pulmonary stenosis" EXACT [PMID:6193702] xref: SNOMEDCT_US:448516008 xref: UMLS:C3165091 is_a: HP:0001719 ! Double outlet right ventricle created_by: peter creation_date: 2012-04-09T10:02:22Z [Term] id: HP:0011652 name: Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis def: "A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:6193702] synonym: "DORV with doubly committed VSD" EXACT [PMID:10798433] synonym: "Double outlet right ventricle, doubly committed ventricular septal defect" EXACT [] xref: Fyler:0604 xref: Fyler:604 xref: UMLS:C4023247 is_a: HP:0001719 ! Double outlet right ventricle created_by: peter creation_date: 2012-04-09T10:05:46Z [Term] id: HP:0011653 name: Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis def: "A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, and also has a pulmonary stenosis; abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:10431853] synonym: "DORV with non-committed VSD and pulmonary stenosis" EXACT [] xref: UMLS:C4023246 is_a: HP:0001719 ! Double outlet right ventricle created_by: peter creation_date: 2012-04-09T10:06:15Z [Term] id: HP:0011654 name: Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis def: "A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:10431853] synonym: "DORV with non-committed VSD without pulmonary stenosis" EXACT [] synonym: "Double outlet right ventricle, noncommitted ventricular septal defect" EXACT [] xref: Fyler:0603 xref: Fyler:603 xref: UMLS:C4023245 is_a: HP:0001719 ! Double outlet right ventricle created_by: peter creation_date: 2012-04-09T10:06:32Z [Term] id: HP:0011655 name: Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis def: "A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:6193702] synonym: "DORV with subaortic VSD and pulmonary stenosis" EXACT [] xref: UMLS:C4023244 is_a: HP:0001719 ! Double outlet right ventricle created_by: peter creation_date: 2012-04-09T10:06:46Z [Term] id: HP:0011656 name: Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis def: "A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:6193702] synonym: "DORV with subaortic VSD without pulmonary stenosis" EXACT [] xref: UMLS:C4023243 is_a: HP:0001719 ! Double outlet right ventricle created_by: peter creation_date: 2012-04-09T10:07:00Z [Term] id: HP:0011657 name: Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis def: "A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:6193702] synonym: "DORV with subpulmonary VSD and pulmonary stenosis" EXACT [] xref: UMLS:C4023242 is_a: HP:0001719 ! Double outlet right ventricle created_by: peter creation_date: 2012-04-09T10:07:16Z [Term] id: HP:0011658 name: Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis def: "A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [PMID:20069085, PMID:6193702] synonym: "DORV with subpulmonary VSD without pulmonary stenosis" EXACT HP:0045077 [] synonym: "Taussig-Bing anomaly" EXACT [] xref: UMLS:C4023241 is_a: HP:0001719 ! Double outlet right ventricle created_by: peter creation_date: 2012-04-09T10:07:31Z [Term] id: HP:0011659 name: Tetralogy of Fallot with absent pulmonary valve def: "Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue." [DDD:dbrown] synonym: "Tetralogy of Fallot with absent pulmonary valve syndrome" EXACT [] xref: SNOMEDCT_US:399228007 xref: UMLS:C1302264 is_a: HP:0001636 ! Tetralogy of Fallot is_a: HP:0005134 ! Absence of the pulmonary valve created_by: peter creation_date: 2012-04-09T10:15:04Z [Term] id: HP:0011660 name: Anomalous origin of one pulmonary artery from ascending aorta def: "Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle." [DDD:dbrown, pmid:2590592] comment: Origin of a pulmonary artery from the aorta is also known as hemitruncus. One pulmonary artery branch, usually the right, arises from the ascending aorta just above the aortic sinuses, while the main pulmonary artery and the other pulmonary branch arise in their normal position from the right ventricle. synonym: "Hemitruncus" EXACT [] xref: Fyler:0550 xref: Fyler:550 xref: UMLS:C4021134 is_a: HP:0030966 ! Abnormal pulmonary artery morphology created_by: peter creation_date: 2012-04-09T10:34:29Z [Term] id: HP:0011661 name: Anomalous origin of left pulmonary artery from ascending aorta def: "The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery." [DDD:dbrown] xref: SNOMEDCT_US:253637002 xref: UMLS:C0345040 is_a: HP:0011660 ! Anomalous origin of one pulmonary artery from ascending aorta created_by: peter creation_date: 2012-04-09T10:42:23Z [Term] id: HP:0011662 name: Tricuspid atresia def: "Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle." [DDD:dbrown, HPO:probinson] synonym: "Tricuspid valve atresia" EXACT [ORCID:0000-0001-5208-3432] xref: EPCC:06.01.01 xref: Fyler:0400 xref: Fyler:400 xref: ICD-10:Q22.4 xref: MSH:D018785 xref: SNOMEDCT_US:253455004 xref: SNOMEDCT_US:63042009 xref: UMLS:C0243002 is_a: HP:0001702 ! Abnormal tricuspid valve morphology created_by: peter creation_date: 2012-04-09T10:45:29Z [Term] id: HP:0011663 name: Right ventricular cardiomyopathy def: "Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease." [HPO:probinson, pmid:17916581] comment: This feature is most often seen in the disease arrhythmogenic right ventricular cardiomyopathy (ARVC). ARVC is defined histologically by the presence of progressive replacement of right ventricular myocardium with adipose and fibrous tissue often confined to a triangle of dysplasia comprising the right ventricular inflow, outflow, and apex. While these pathologic abnormalities can result in functional and morphological right ventricular abnormalities, they also occur in the left ventricle, producing a DCM phenotype, or can be present in the absence of clinically detectable structural changes in either ventricle. For the purposes of this classification, ARVC is defined by the presence of right ventricular dysfunction (global or regional), with or without left ventricular disease, in the presence of histological evidence for the disease and/or electrocardiographic abnormalities in accordance with published criteria. synonym: "Cardiomyopathy, esp. right ventricular" RELATED [HPO:skoehler] synonym: "Cardiomyopathy, right ventricular" EXACT [HPO:skoehler] xref: UMLS:C2063326 is_a: HP:0001638 ! Cardiomyopathy created_by: peter creation_date: 2012-04-09T11:14:59Z [Term] id: HP:0011664 name: Left ventricular noncompaction cardiomyopathy def: "Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates." [pmid:17916581] comment: Left ventricular noncompaction cardiomyopathy (LVNC), also known as spongy myocardium, is a distinct form of cardiomyopathy occurring in-utero when segments of spongy myocardium fail to transform into compact, mature musculature resulting in prominent myocardial trabeculae, deep intra-trabecular recesses, and decreased cardiac function. It has been proposed that LVNC results from arrest of the compaction process during the second month of embryological development. synonym: "Left ventricular non-compaction cardiomyopathy" EXACT [] xref: UMLS:C4021133 is_a: HP:0012817 ! Noncompaction cardiomyopathy created_by: peter creation_date: 2012-04-09T11:31:40Z [Term] id: HP:0011665 name: Takotsubo cardiomyopathy def: "Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation." [pmid:17916581] synonym: "Broken-heart syndrome" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D054549 xref: SNOMEDCT_US:441541008 xref: UMLS:C1739395 is_a: HP:0001638 ! Cardiomyopathy created_by: peter creation_date: 2012-04-09T11:39:40Z [Term] id: HP:0011666 name: Absent right superior vena cava def: "Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium." [DDD:dbrown, pmid:17578953, pmid:19808620, pmid:20532458] comment: The superior vena cava is formed by the left and right brachiocephalic (innominate) veins, which receive blood from the arms, head and neck. xref: SNOMEDCT_US:253308005 xref: UMLS:C0344656 is_a: HP:0005301 ! Persistent left superior vena cava created_by: peter creation_date: 2012-04-09T11:43:46Z [Term] id: HP:0011667 name: Bilateral superior vena cava with bridging vein xref: UMLS:C4023240 is_a: HP:0005301 ! Persistent left superior vena cava created_by: peter creation_date: 2012-04-09T12:00:46Z [Term] id: HP:0011668 name: Bilateral superior vena cava with no bridging vein xref: UMLS:C4023239 is_a: HP:0005301 ! Persistent left superior vena cava created_by: peter creation_date: 2012-04-09T12:01:33Z [Term] id: HP:0011669 name: Left superior vena cava draining directly to the left atrium def: "A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt." [PMID:18847480] xref: UMLS:C4023238 is_a: HP:0005301 ! Persistent left superior vena cava created_by: peter creation_date: 2012-04-09T12:02:06Z [Term] id: HP:0011670 name: Left superior vena cava draining to coronary sinus def: "A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence." [PMID:18847480] xref: ICD-10:Q26.1 xref: UMLS:C2677768 is_a: HP:0005301 ! Persistent left superior vena cava created_by: peter creation_date: 2012-04-09T12:02:58Z [Term] id: HP:0011671 name: Interrupted inferior vena cava with azygous continuation def: "Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava." [DDD:dbrown, pmid:10550884] xref: ICD-10:26.8 xref: UMLS:C4023237 is_a: HP:0025576 ! Abnormal inferior vena cava morphology created_by: peter creation_date: 2012-04-09T12:04:06Z [Term] id: HP:0011672 name: Cardiac myxoma def: "A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origina and general project from the endocardium into a cardiac chamber." [HPO:probinson, pmid:7477198] xref: NCIT:C6577 xref: SNOMEDCT_US:426191007 xref: UMLS:C1960546 is_a: HP:0100544 ! Neoplasm of the heart created_by: peter creation_date: 2012-04-09T12:10:35Z [Term] id: HP:0011673 name: Cardiac hemangioma def: "Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium." [DDD:dbrown] xref: NCIT:C3085 xref: UMLS:C1707298 is_a: HP:0410266 ! Visceral hemangioma created_by: peter creation_date: 2012-04-09T12:20:13Z [Term] id: HP:0011674 name: Cardiac teratoma def: "A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The tumour size within the heart varies from 2 to 9 cm in diameter, and intrapericardial tumors as large as 15 cm have been reported. Intracardiac tumors arise from the atrial or ventricular wall as nodular masses protruding into the cardiac chambers. Cardiac and pericardial teratomas are easily detected in the fetus and neonate by two-dimensional echocardiography as heterogeneous and encapsulated cystic masses. Histologically, cardiac teratomas contain multiple immature elements including epithelium, neuroglial tissue, thyroid, pancreas, smooth and skeletal muscle, cartilage and bone." [HPO:probinson, pmid:17331235] xref: NCIT:C3403 xref: UMLS:C1112387 is_a: HP:0009792 ! Teratoma is_a: HP:0100544 ! Neoplasm of the heart created_by: peter creation_date: 2012-04-09T12:33:29Z [Term] id: HP:0011675 name: Arrhythmia alt_id: HP:0001656 alt_id: HP:0001661 alt_id: HP:0001665 alt_id: HP:0001666 alt_id: HP:0001675 alt_id: HP:0001687 alt_id: HP:0001721 alt_id: HP:0004351 alt_id: HP:0005158 def: "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792] synonym: "Abnormal heart rate" EXACT layperson [] synonym: "Abnormality of cardiac conduction" EXACT [] synonym: "Arrhythmias" EXACT [] synonym: "Cardiac arrhythmia" EXACT [] synonym: "Cardiac arrhythmias" EXACT [] synonym: "Cardiac conduction abnormalities" EXACT [] synonym: "Cardiac conduction defects" EXACT [] synonym: "Cardiac rhythm disturbances" EXACT [] synonym: "Heart rhythm disorders" EXACT layperson [] synonym: "Irregular heart beat" EXACT layperson [] synonym: "Irregular heartbeat" EXACT layperson [] xref: MSH:C562490 xref: MSH:D001145 xref: SNOMEDCT_US:102594003 xref: SNOMEDCT_US:44808001 xref: SNOMEDCT_US:698247007 xref: UMLS:C0003811 xref: UMLS:C0264886 xref: UMLS:C0522055 xref: UMLS:C0855329 xref: UMLS:C1832603 xref: UMLS:C1842820 is_a: HP:0030956 ! Abnormality of cardiovascular system electrophysiology created_by: peter creation_date: 2012-04-09T12:47:32Z [Term] id: HP:0011676 name: Tetralogy of Fallot with absent subarterial conus xref: UMLS:C4023236 is_a: HP:0001636 ! Tetralogy of Fallot created_by: peter creation_date: 2012-04-10T07:40:33Z [Term] id: HP:0011677 name: Tetralogy of Fallot with atrioventricular canal defect xref: UMLS:C4023235 is_a: HP:0001636 ! Tetralogy of Fallot created_by: peter creation_date: 2012-04-10T07:41:53Z [Term] id: HP:0011678 name: Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries def: "A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA)." [HPO:probinson, pmid:22368654] comment: Major aortopulmonary collateral arteries (MACPAs) are arteries that develop to supply blood to the lungs when native pulmonary circulation is underdeveloped. That is, the blood supply to the lungs derives from the aorta rather than from the pulmonary artery. xref: UMLS:C4023234 is_a: HP:0012516 ! Tetralogy of Fallot with pulmonary atresia created_by: peter creation_date: 2012-04-10T07:43:01Z [Term] id: HP:0011679 name: Tetralogy of Fallot with pulmonary stenosis def: "The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus." [HPO:probinson] xref: SNOMEDCT_US:253512000 xref: UMLS:C0344881 is_a: HP:0001636 ! Tetralogy of Fallot created_by: peter creation_date: 2012-04-10T07:44:06Z [Term] id: HP:0011680 name: Single ventricle of indeterminate morphology xref: UMLS:C4023233 is_a: HP:0001750 ! Single ventricle created_by: peter creation_date: 2012-04-10T08:02:28Z [Term] id: HP:0011681 name: Subarterial ventricular septal defect def: "A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum." [DDD:dbrown, pmid:10798413] synonym: "Conal ventricular septal defect" EXACT [] synonym: "Doubly committed ventricular septal defect" EXACT [] synonym: "Infundibular ventricular septal defect" EXACT [] synonym: "Supracristal ventricular septal defect" EXACT [] synonym: "Type 1 ventricular septal defect" EXACT [] xref: Fyler:1330 xref: SNOMEDCT_US:448876006 xref: UMLS:C3165130 is_a: HP:0001629 ! Ventricular septal defect created_by: peter creation_date: 2012-04-10T08:09:32Z [Term] id: HP:0011682 name: Perimembranous ventricular septal defect def: "A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs." [DDD:dbrown, pmid:10798413] synonym: "Conoventricular ventricular septal defect" EXACT [] synonym: "Membranous ventricular septal defect" EXACT [] synonym: "Paramembranous ventricular septal defect" EXACT [] synonym: "Perimembraneous ventricular septal defect" EXACT [ORCID:0000-0001-5208-3432] synonym: "Type 2 ventricular septal defect" EXACT [] synonym: "Ventricular septal defect, perimembranous" RELATED [HPO:skoehler] xref: Fyler:1310 xref: SNOMEDCT_US:109428005 xref: UMLS:C0344925 is_a: HP:0001629 ! Ventricular septal defect created_by: peter creation_date: 2012-04-10T08:21:13Z [Term] id: HP:0011683 name: Restrictive ventricular septal defect def: "Any ventricular septal defect (VSD) that is small enough to restrict flow across it such that a pressure gradient exists between the two sides of the VSD." [DDD:dbrown, pmid:10798413] comment: This term can be used in addition to another term describing the morphology of a VSD. xref: SNOMEDCT_US:253551005 xref: UMLS:C0344924 is_a: HP:0001629 ! Ventricular septal defect created_by: peter creation_date: 2012-04-10T08:26:59Z [Term] id: HP:0011684 name: Non-restrictive ventricular septal defect def: "Any ventricular septal defect (VSD) that does not restrict flow across it sufficiently to generate a pressure gradient between the two sides of the VSD." [DDD:dbrown] comment: This term can be used in addition to another term describing the morphology of a VSD. xref: SNOMEDCT_US:373131000 xref: UMLS:C1298817 is_a: HP:0001629 ! Ventricular septal defect created_by: peter creation_date: 2012-04-10T08:29:05Z [Term] id: HP:0011685 name: Infra-aortic superior vena cava def: "The superior vena cava passes below the aortic arch." [DDD:dbrown] comment: The superior vena cava normally crosses superior and anterior to the aorta. xref: UMLS:C4023232 is_a: HP:0025575 ! Abnormal superior vena cava morphology created_by: peter creation_date: 2012-04-10T08:36:00Z [Term] id: HP:0011686 name: Abnormal coronary artery course def: "An abnormal path of a coronary artery." [DDD:dbrown] synonym: "Anomalous coronary artery course" RELATED [] xref: SNOMEDCT_US:253714001 xref: UMLS:C0345122 is_a: HP:0006704 ! Abnormal coronary artery morphology created_by: peter creation_date: 2012-04-10T08:37:35Z [Term] id: HP:0011687 name: AV nodal tachycardia def: "A type of supraventricular tachycardia that originates in the atrioventricular node." [DDD:dbrown, PMID:20733110] synonym: "Atrioventricular nodal tachycardia" EXACT [] synonym: "AV nodal tachycardia" EXACT HP:0045077 [] xref: UMLS:C0857265 is_a: HP:0004755 ! Supraventricular tachycardia created_by: peter creation_date: 2012-04-10T08:45:26Z [Term] id: HP:0011688 name: Supraventricular tachycardia with an accessory connection mediated pathway def: "Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism." [PMID:22459483] synonym: "Atrioventricular re-entry tachycardia" EXACT [] xref: UMLS:C4021132 is_a: HP:0004755 ! Supraventricular tachycardia created_by: peter creation_date: 2012-04-10T10:33:56Z [Term] id: HP:0011689 name: Supraventricular tachycardia with a concealed accessory connection def: "Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed becasue it is not seen on the ECG during sinus rhythm." [PMID:22459483] xref: UMLS:C4023231 is_a: HP:0011688 ! Supraventricular tachycardia with an accessory connection mediated pathway created_by: peter creation_date: 2012-04-10T10:35:31Z [Term] id: HP:0011690 name: Permanent junctional reciprocating tachycardia def: "An incessant orthodromic tachycardia with anterograde conduction over the atrioventricular node and by retrograde conduction via an accessory pathway usually located in the posteroseptal region with slow and decremental conduction." [PMID:15831598] xref: SNOMEDCT_US:233904005 xref: UMLS:C0340483 is_a: HP:0011689 ! Supraventricular tachycardia with a concealed accessory connection created_by: peter creation_date: 2012-04-10T10:36:06Z [Term] id: HP:0011691 name: Supraventricular tachycardia with a concealed accessory pathway on the left free wall xref: UMLS:C4023230 is_a: HP:0011689 ! Supraventricular tachycardia with a concealed accessory connection created_by: peter creation_date: 2012-04-10T10:36:49Z [Term] id: HP:0011692 name: Supraventricular tachycardia with a concealed accessory pathway on the right free wall xref: UMLS:C4023229 is_a: HP:0011689 ! Supraventricular tachycardia with a concealed accessory connection created_by: peter creation_date: 2012-04-10T10:37:37Z [Term] id: HP:0011693 name: Supraventricular tachycardia with a concealed accessory pathway on the septum xref: UMLS:C4023228 is_a: HP:0011689 ! Supraventricular tachycardia with a concealed accessory connection created_by: peter creation_date: 2012-04-10T10:38:07Z [Term] id: HP:0011694 name: Supraventricular tachycardia with a manifest accessory pathway xref: UMLS:C4023227 is_a: HP:0011688 ! Supraventricular tachycardia with an accessory connection mediated pathway created_by: peter creation_date: 2012-04-10T10:38:53Z [Term] id: HP:0011695 name: Cerebellar hemorrhage def: "Hemorrhage into the parenchyma of the cerebellum." [HPO:probinson] xref: SNOMEDCT_US:75038005 xref: UMLS:C0149854 is_a: HP:0002170 ! Intracranial hemorrhage created_by: peter creation_date: 2012-04-10T10:46:25Z [Term] id: HP:0011696 name: Supraventricular tachycardia with a manifest accessory pathway on the left free wall xref: UMLS:C4023226 is_a: HP:0011694 ! Supraventricular tachycardia with a manifest accessory pathway created_by: peter creation_date: 2012-04-10T10:57:34Z [Term] id: HP:0011697 name: Supraventricular tachycardia with a manifest accessory pathway on the right free wall xref: UMLS:C4023225 is_a: HP:0011694 ! Supraventricular tachycardia with a manifest accessory pathway created_by: peter creation_date: 2012-04-10T10:59:00Z [Term] id: HP:0011698 name: Supraventricular tachycardia with a manifest accessory pathway on the septum xref: UMLS:C4023224 is_a: HP:0011694 ! Supraventricular tachycardia with a manifest accessory pathway created_by: peter creation_date: 2012-04-10T10:59:45Z [Term] id: HP:0011699 name: Atrial reentry tachycardia xref: UMLS:C4023223 is_a: HP:0001692 ! Atrial arrhythmia created_by: peter creation_date: 2012-04-10T11:15:27Z [Term] id: HP:0011700 name: Automatic atrial tachycardia def: "Chronic supraventricular tachycardia predominantly seen in childhood." [PMID:4019927] xref: MSH:D013612 xref: SNOMEDCT_US:233892002 xref: UMLS:C0039234 is_a: HP:0001692 ! Atrial arrhythmia created_by: peter creation_date: 2012-04-10T11:19:33Z [Term] id: HP:0011701 name: Multifocal atrial tachycardia def: "Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic." [ORPHA:3282] synonym: "Chaotic atrial tachycardia" EXACT [ORPHA:3282, PMID:5451226] synonym: "Ectopic atrial tachycardia" EXACT [] xref: SNOMEDCT_US:49982000 xref: UMLS:C0221158 is_a: HP:0001692 ! Atrial arrhythmia created_by: peter creation_date: 2012-04-10T11:20:13Z [Term] id: HP:0011702 name: Abnormal electrophysiology of sinoatrial node origin def: "An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart." [HPO:probinson] xref: Fyler:7010 xref: UMLS:C4023222 is_a: HP:0011675 ! Arrhythmia created_by: peter creation_date: 2012-04-10T11:22:43Z [Term] id: HP:0011703 name: Sinus tachycardia def: "Heart rate of greater than 100 beats per minute." [] synonym: "Sinus tach" EXACT [ORCID:0000-0001-6908-9849] synonym: "Sinus tachy" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:D013616 xref: SNOMEDCT_US:11092001 xref: UMLS:C0039239 is_a: HP:0011702 ! Abnormal electrophysiology of sinoatrial node origin created_by: peter creation_date: 2012-04-10T11:30:45Z [Term] id: HP:0011704 name: Sick sinus syndrome def: "An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress." [PMID:17420362] synonym: "Sinoatrial node disease" EXACT [] xref: MSH:D012804 xref: SNOMEDCT_US:36083008 xref: UMLS:C0037052 is_a: HP:0011702 ! Abnormal electrophysiology of sinoatrial node origin is_a: HP:0012722 ! Heart block created_by: peter creation_date: 2012-04-10T11:31:17Z [Term] id: HP:0011705 name: First degree atrioventricular block def: "Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles." [DDD:dbrown, HPO:probinson] comment: The conduction of the cardiac impulse through the atrioventricular node is manifested in the EKG by the PR interval, which is normally less that 200 milliseconds in adults. Normal values are age-dependent in children, but normal values are less that 160 milliseconds in young children. xref: SNOMEDCT_US:270492004 xref: UMLS:C0085614 is_a: HP:0001678 ! Atrioventricular block created_by: peter creation_date: 2012-04-11T07:17:18Z [Term] id: HP:0011706 name: Second degree atrioventricular block def: "An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction." [DDD:dbrown, HPO:probinson] xref: SNOMEDCT_US:195042002 xref: UMLS:C0264906 is_a: HP:0001678 ! Atrioventricular block created_by: peter creation_date: 2012-04-11T07:22:35Z [Term] id: HP:0011707 name: Mobitz I atrioventricular block def: "Progressive PR interval prolongation with the subsequent occurrence of a single nonconducted P wave that results in a pause. The pause that follows the nonconducted impulse is less than fully compensatory (less than the sum of two normal sinus intervals)." [DDD:dbrown, HPO:probinson] comment: Mobitz I atrioventricular block is associated with a normal QRS duration. synonym: "Mobitz type 1 atrioventricular block" EXACT [] synonym: "Wenckebach block" EXACT [] xref: SNOMEDCT_US:54016002 xref: UMLS:C0264907 is_a: HP:0011706 ! Second degree atrioventricular block created_by: peter creation_date: 2012-04-11T07:25:17Z [Term] id: HP:0011708 name: Mobitz II atrioventricular block def: "A type of second degree atrioventricular (AV) block characterized by sudden failure to conduct an impulse through the AV node without a preceding change in the PR interval." [DDD:dbrown, HPO:probinson] comment: Mobitz I atrioventricular block is usually associated with a prolonged QRS duration. synonym: "Mobitz type 2 atrioventricular block" EXACT [] xref: SNOMEDCT_US:28189009 xref: UMLS:C0155700 is_a: HP:0011706 ! Second degree atrioventricular block created_by: peter creation_date: 2012-04-11T07:34:09Z [Term] id: HP:0011709 name: Atrioventricular dissociation def: "Atrioventricular (AV) dissociation is present if the atria and the ventricles are under the control of two separate pacemakers. AV dissociation can occur in the absence of a primary AV conduction disturbance." [HPO:probinson] comment: Atrioventricular dissociation can develop in response to severe sinus bradycardia with AV junctional rhythm or with an enhanced lower (junctional or ventricular) pacemaker that competes with the normal sinus rhythm and exceeds it. xref: MSH:D006327 xref: SNOMEDCT_US:50799005 xref: UMLS:C0004331 is_a: HP:0005150 ! Abnormal atrioventricular conduction created_by: peter creation_date: 2012-04-11T07:46:37Z [Term] id: HP:0011710 name: Bundle branch block def: "Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches." [DDD:dbrown, HPO:probinson] comment: The Bundle of His conducts the electrical impulse from the atrioventricular node into the ventricles. THe Bundle of His divides into right and left bundle branches. A universal feature of a bundle branch block is a prolongation of the time required for depolarization of a portion of the ventricles, reflected in an abnormality of the QRS complex. synonym: "Bundle-branch block" EXACT [] xref: MSH:D002037 xref: SNOMEDCT_US:6374002 xref: UMLS:C0006384 is_a: HP:0012722 ! Heart block created_by: peter creation_date: 2012-04-11T07:55:50Z [Term] id: HP:0011711 name: Left anterior fascicular block def: "Conduction block in the anterior division of the left bundle branch of the bundle of His." [DDD:dbrown] synonym: "Left anterior hemiblock" EXACT [] xref: SNOMEDCT_US:37760005 xref: UMLS:C0264912 is_a: HP:0011713 ! Left bundle branch block created_by: peter creation_date: 2012-04-11T08:02:03Z [Term] id: HP:0011712 name: Right bundle branch block def: "A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG." [DDD:dbrown, HPO:probinson] synonym: "Right bundle-branch block" EXACT [] xref: MSH:D002037 xref: SNOMEDCT_US:59118001 xref: UMLS:C0085615 is_a: HP:0011710 ! Bundle branch block created_by: peter creation_date: 2012-04-11T08:02:08Z [Term] id: HP:0011713 name: Left bundle branch block def: "A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG." [DDD:dbrown, HPO:probinson] xref: MSH:D002037 xref: SNOMEDCT_US:63467002 xref: UMLS:C0023211 is_a: HP:0011710 ! Bundle branch block created_by: peter creation_date: 2012-04-11T08:04:34Z [Term] id: HP:0011714 name: Libman-Sacks lesions def: "Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve." [pmid:18421506] comment: Libman-Sacks lesions are y typical manifestation of systemic lupus erythematosus. xref: UMLS:C4023221 is_a: HP:0100584 ! Endocarditis created_by: peter creation_date: 2012-04-11T10:11:39Z [Term] id: HP:0011715 name: Trifascicular block def: "Abnormal conduction in all three divisions of the intraventricular conducting tissue." [DDD:dbrown] xref: SNOMEDCT_US:86014007 xref: UMLS:C0155707 is_a: HP:0011710 ! Bundle branch block created_by: peter creation_date: 2012-04-11T08:10:14Z [Term] id: HP:0011716 name: Junctional ectopic tachycardia def: "Junctional ectopic tachycardia (JET) is a unique type of supraventricular arrhythmia defined by narrow QRS complex and atrioventricular (AV) dissociation or retrograde atrial conduction in a 1:1 pattern." [PMID:22826742] xref: MSH:D013613 xref: SNOMEDCT_US:233901002 xref: SNOMEDCT_US:419166005 xref: UMLS:C0039235 is_a: HP:0011687 ! AV nodal tachycardia created_by: peter creation_date: 2012-04-11T08:42:28Z [Term] id: HP:0011717 name: Atrioventricular reentrant tachycardia def: "Accessory pathway-related atrioventricular reentrant tachycardia (AVRT) involves an abnormal electrical conduction of the accessory pathway. The accessory pathway connecting impulses between the atrium and the ventricle can be seen at any site in the AV groove." [] synonym: "AV nodal reentry tachycardia" EXACT [] xref: UMLS:C4023220 is_a: HP:0011687 ! AV nodal tachycardia created_by: peter creation_date: 2012-04-11T08:42:52Z [Term] id: HP:0011718 name: Abnormality of the pulmonary veins def: "An abnormality of the pulmonary veins." [HPO:probinson] comment: The right superior, right inferior, left superior, and left inferior pulmonary veins carry oxygenated blood to the left atrium. synonym: "Abnormality of lung veins" EXACT layperson [] xref: SNOMEDCT_US:111322000 xref: SNOMEDCT_US:128585006 xref: SNOMEDCT_US:199113001 xref: UMLS:C0265914 is_a: HP:0004930 ! Abnormality of the pulmonary vasculature created_by: peter creation_date: 2012-04-11T08:45:48Z [Term] id: HP:0011719 name: Supracardiac total anomalous pulmonary venous connection def: "Type 1 total anomalous pulmonary venous connection." [DDD:dbrown] synonym: "Total anomalous pulmonary venous connection, supracardiac" EXACT [] synonym: "Type 1 total anomalous pulmonary venous connection" EXACT [] xref: Fyler:0910 xref: Fyler:910 xref: UMLS:C4021131 is_a: HP:0005160 ! Total anomalous pulmonary venous return created_by: peter creation_date: 2012-04-11T08:50:39Z [Term] id: HP:0011720 name: Cardiac total anomalous pulmonary venous connection def: "Type 2 total anomalous pulmonary venous connection." [DDD:dbrown] synonym: "Total anomalous pulmonary venous connection, intracardiac" EXACT [] synonym: "Type 2 total anomalous pulmonary venous connection" EXACT [] xref: Fyler:0920 xref: Fyler:0930 xref: Fyler:920 xref: Fyler:930 xref: UMLS:C4021130 is_a: HP:0005160 ! Total anomalous pulmonary venous return created_by: peter creation_date: 2012-04-11T08:51:32Z [Term] id: HP:0011721 name: Infracardiac total anomalous pulmonary venous connection def: "Type 3 total anomalous pulmonary venous connection." [DDD:dbrown] synonym: "Type 3 total anomalous pulmonary venous connection" EXACT [] xref: UMLS:C4021129 is_a: HP:0005160 ! Total anomalous pulmonary venous return created_by: peter creation_date: 2012-04-11T08:52:28Z [Term] id: HP:0011722 name: Mixed total anomalous pulmonary venous connection def: "Type 4 total anomalous pulmonary venous connection." [DDD:dbrown] synonym: "Total anomalous pulmonary venous connection, mixed" EXACT [] synonym: "Type 4 total anomalous pulmonary venous connection" EXACT [ORCID:0000-0001-5208-3432] xref: Fyler:0950 xref: Fyler:950 xref: UMLS:C4021128 is_a: HP:0005160 ! Total anomalous pulmonary venous return created_by: peter creation_date: 2012-04-11T08:53:37Z [Term] id: HP:0011723 name: Congenital malformation of the right heart def: "Defect or defects of the morphogenesis of the right heart identifiable at birth." [] xref: UMLS:C4023219 is_a: HP:0001627 ! Abnormal heart morphology created_by: peter creation_date: 2012-04-11T08:56:19Z [Term] id: HP:0011724 name: Uhl's anomaly def: "Uhl anomaly of the right ventricle refers to the almost complete absence of right ventricular myocardium, normal tricuspid valve, and preserved septal and left ventricular myocardium." [PMID:10859296, PMID:16322929] xref: MSH:C536932 xref: SNOMEDCT_US:2829000 xref: UMLS:C0265857 is_a: HP:0011723 ! Congenital malformation of the right heart created_by: peter creation_date: 2012-04-11T08:59:07Z [Term] id: HP:0011725 name: Chaotic multifocal atrial tachycardia xref: UMLS:C4023218 is_a: HP:0001692 ! Atrial arrhythmia created_by: peter creation_date: 2012-04-11T09:01:14Z [Term] id: HP:0011726 name: Persistent fetal circulation def: "Systemic desaturation of a liveborn baby resulting from persistent pulmonary hypertension with a patent ductus arteriosus and patent foramen ovale, such that the circulation in postnatal life follows the fetal course." [DDD:dbrown] xref: MSH:D010547 xref: SNOMEDCT_US:206597007 xref: SNOMEDCT_US:233815004 xref: SNOMEDCT_US:35604006 xref: UMLS:C0031190 is_a: HP:0010948 ! Abnormality of the fetal cardiovascular system created_by: peter creation_date: 2012-04-11T09:02:26Z [Term] id: HP:0011727 name: Peroneal muscle weakness def: "Weakness of the peroneal muscles." [HPO:probinson] comment: THe peroneal muscles (also known as fibularis muscles) originate from the fibula. The peroneal longus and brevis muscles are located on the lateral side of the leg, while peroneal tertius is on the anterior side. synonym: "Fibularis muscle weakness" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C0240733 is_a: HP:0009053 ! Distal lower limb muscle weakness created_by: peter creation_date: 2012-04-11T10:26:15Z [Term] id: HP:0011728 name: Elbow clonus def: "Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint." [HPO:probinson] xref: UMLS:C4023217 is_a: HP:0002169 ! Clonus created_by: peter creation_date: 2012-04-17T08:56:48Z [Term] id: HP:0011729 name: Abnormality of joint mobility def: "An abnormality in the range and ease of motion of joints across their normal range." [HPO:probinson] xref: UMLS:C4023216 is_a: HP:0001367 ! Abnormal joint morphology created_by: peter creation_date: 2012-04-18T07:09:28Z [Term] id: HP:0011730 name: Abnormality of central sensory function def: "An abnormality of cortical sensation. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function usually indicates a lesion of a parietal cortex or of the thalamocortical projections to the parietal cortex." [HPO:probinson] xref: UMLS:C4023215 is_a: HP:0012638 ! Abnormality of nervous system physiology created_by: peter creation_date: 2012-04-19T07:44:18Z [Term] id: HP:0011731 name: Abnormality of circulating cortisol level def: "An abnormality of the concentration of cortisol in the blood." [HPO:probinson] xref: UMLS:C4023214 is_a: HP:0012111 ! Abnormality of circulating glucocorticoid level created_by: peter creation_date: 2012-04-21T07:59:26Z [Term] id: HP:0011732 name: Abnormality of adrenal morphology def: "Any structural anomaly of the adrenal glands." [HPO:probinson] xref: UMLS:C4023213 is_a: HP:0000834 ! Abnormality of the adrenal glands created_by: peter creation_date: 2012-04-21T08:04:29Z [Term] id: HP:0011733 name: Abnormality of adrenal physiology alt_id: HP:0002855 def: "A functional abnormality of the adrenal glands." [HPO:probinson] xref: UMLS:C4023212 is_a: HP:0000834 ! Abnormality of the adrenal glands created_by: peter creation_date: 2012-04-21T08:05:42Z [Term] id: HP:0011734 name: Central adrenal insufficiency def: "A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected." [DDD:spark] synonym: "Secondary adrenal insufficiency" EXACT [] xref: UMLS:C0948387 is_a: HP:0000846 ! Adrenal insufficiency created_by: peter creation_date: 2012-04-21T08:26:19Z [Term] id: HP:0011735 name: Adrenocorticotropin deficient adrenal insufficiency def: "Adrenal insufficiency secondary to a defect in ACTH production." [DDD:spark] synonym: "ACTH deficient adrenal insufficiency" EXACT [] xref: UMLS:C4023211 is_a: HP:0011734 ! Central adrenal insufficiency created_by: peter creation_date: 2012-04-21T09:06:46Z [Term] id: HP:0011736 name: Primary hyperaldosteronism def: "A form of hyperaldosteronism caused by a defect within the adrenal gland." [DDD:spark] xref: MSH:D006929 xref: SNOMEDCT_US:190507007 xref: SNOMEDCT_US:258117004 xref: UMLS:C1384514 is_a: HP:0000859 ! Hyperaldosteronism created_by: peter creation_date: 2012-04-21T09:26:05Z [Term] id: HP:0011737 name: Corticotropin-releasing hormone deficient adrenal insufficiency def: "Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production." [DDD:spark] synonym: "CRH deficient adrenal insufficiency" EXACT [] synonym: "Tertiary adrenal insufficiency" EXACT [] xref: UMLS:C4021127 is_a: HP:0011734 ! Central adrenal insufficiency created_by: peter creation_date: 2012-04-21T09:09:56Z [Term] id: HP:0011738 name: Corticotropin-releasing hormone receptor defect def: "Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor." [DDD:spark] synonym: "Corticotropin-releasing hormone receptor (CRHR) resistance" RELATED [] synonym: "CRHR defect" EXACT [] xref: UMLS:C4020745 xref: UMLS:C4023210 is_a: HP:0011734 ! Central adrenal insufficiency created_by: peter creation_date: 2012-04-21T09:11:04Z [Term] id: HP:0011739 name: Dexamethasone-suppressible primary hyperaldosteronism def: "A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone." [DDD:spark, HPO:probinson] synonym: "Familial primary hyperaldosteronism type 1" RELATED [] synonym: "Glucocorticoid-remediable familial primary aldosteronism" RELATED [] xref: UMLS:C4020743 xref: UMLS:C4020744 xref: UMLS:C4023209 is_a: HP:0011736 ! Primary hyperaldosteronism created_by: peter creation_date: 2012-04-21T09:27:36Z [Term] id: HP:0011740 name: Glucocortocoid-insensitive primary hyperaldosteronism def: "A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids." [DDD:spark, HPO:probinson] synonym: "Familial primary hyperaldosteronism type 2" RELATED [] xref: UMLS:C4020742 xref: UMLS:C4023208 is_a: HP:0011736 ! Primary hyperaldosteronism created_by: peter creation_date: 2012-04-21T09:29:51Z [Term] id: HP:0011741 name: Secondary hyperaldosteronism def: "A form of hyperaldosteronism caused by abnormally increased renin levels." [DDD:spark] synonym: "Hyperreninemic hyperaldosteronism" EXACT [] xref: SNOMEDCT_US:67805000 xref: UMLS:C0271728 is_a: HP:0000859 ! Hyperaldosteronism created_by: peter creation_date: 2012-04-21T09:32:28Z [Term] id: HP:0011742 name: Ectopic adrenal gland def: "Abnormal anatomical location of the adrenal gland." [DDD:spark] synonym: "Abnormal adrenal gland position" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:49494003 xref: UMLS:C0266275 is_a: HP:0011732 ! Abnormality of adrenal morphology created_by: peter creation_date: 2012-04-21T09:45:15Z [Term] id: HP:0011743 name: Adrenal gland agenesis def: "Absent development of the adrenal gland." [DDD:spark] xref: MSH:C538429 xref: SNOMEDCT_US:702615004 xref: SNOMEDCT_US:83190008 xref: UMLS:C0266273 is_a: HP:0008216 ! Adrenal gland dysgenesis created_by: peter creation_date: 2012-04-21T09:46:49Z [Term] id: HP:0011744 name: Secondary hypercortisolism def: "Hypercortisolemia associated with a overproduction of ACTH (often from a tumor), leading secondarily to overproduction of cortisol." [HPO:probinson] synonym: "ACTH-dependent hypercortisolemia" RELATED [] xref: UMLS:C4020741 xref: UMLS:C4023207 is_a: HP:0003118 ! Increased circulating cortisol level created_by: peter creation_date: 2012-04-21T11:46:27Z [Term] id: HP:0011745 name: Non-secretory adrenocortical adenoma def: "An hormonally inactive adrenocortical adenoma, that is, an adenoma that does not secrete excessive amounts of adrenal hormones." [DDD:spark] synonym: "Non-secretory adrenal adenoma" EXACT [] xref: UMLS:C4021126 is_a: HP:0008256 ! Adrenocortical adenoma created_by: peter creation_date: 2012-04-21T11:55:18Z [Term] id: HP:0011746 name: Secretory adrenocortical adenoma def: "An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones." [DDD:spark] synonym: "Secretory adrenal adenoma" EXACT [] xref: UMLS:C4021125 is_a: HP:0008256 ! Adrenocortical adenoma created_by: peter creation_date: 2012-04-21T11:58:38Z [Term] id: HP:0011747 name: Abnormality of the anterior pituitary def: "An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland." [DDD:spark] synonym: "Pituitary disease" RELATED [] xref: MSH:D010900 xref: SNOMEDCT_US:399244003 xref: UMLS:C0032002 xref: UMLS:C4023206 is_a: HP:0012503 ! Abnormality of the pituitary gland created_by: peter creation_date: 2012-04-22T11:17:00Z [Term] id: HP:0011748 name: Adrenocorticotropic hormone deficiency def: "A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol." [DDD:spark] synonym: "ACTH deficiency" EXACT [] synonym: "Corticotropin deficiency" EXACT [] xref: MSH:C535668 xref: SNOMEDCT_US:237692001 xref: UMLS:C0342388 is_a: HP:0000830 ! Anterior hypopituitarism created_by: peter creation_date: 2012-04-22T11:27:04Z [Term] id: HP:0011749 name: Adrenocorticotropic hormone excess def: "Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex." [DDD:spark] comment: This term refers to increased production of ACTH. If additionally hypercorticolism is present, this should be coded separated with HP:0011744. synonym: "ACTH excess" EXACT [] xref: UMLS:C4021124 is_a: HP:0010514 ! Hyperpituitarism created_by: peter creation_date: 2012-04-22T01:09:54Z [Term] id: HP:0011750 name: Neoplasm of the anterior pituitary def: "A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland." [DDD:spark] synonym: "Neoplasm of the adenohypophysis" EXACT [ORCID:0000-0001-6908-9849] synonym: "Neoplasm of the pars anterior" EXACT [ORCID:0000-0001-6908-9849] xref: NCIT:C3262 xref: UMLS:C4023205 is_a: HP:0011747 ! Abnormality of the anterior pituitary is_a: HP:0040277 ! Neoplasm of the pituitary gland created_by: peter creation_date: 2012-04-22T01:18:46Z [Term] id: HP:0011751 name: Abnormality of the posterior pituitary def: "An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis." [DDD:spark, HPO:probinson] synonym: "Abnormality of the neurohypophysis" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4023204 is_a: HP:0012503 ! Abnormality of the pituitary gland created_by: peter creation_date: 2012-04-22T01:20:33Z [Term] id: HP:0011752 name: Neoplasm of the posterior pituitary def: "The presence of a neoplasm (tumour) in the neurohypophysis, which is also known as the posterior lobe of the hypophysis." [DDD:spark] synonym: "Neoplasm of the neurohypophysis" EXACT [ORCID:0000-0001-6908-9849] xref: NCIT:C3262 xref: UMLS:C1334957 is_a: HP:0011751 ! Abnormality of the posterior pituitary created_by: peter creation_date: 2012-04-22T01:31:18Z [Term] id: HP:0011753 name: Posterior pituitary dysgenesis def: "Abnormal development of the neurohypophysis during embryonic growth and development." [DDD:spark] synonym: "Neurohypophysis dysplasia" EXACT [ORCID:0000-0001-6908-9849] synonym: "Posterior pituitary dysplasia" EXACT [] xref: UMLS:C4021123 is_a: HP:0011751 ! Abnormality of the posterior pituitary created_by: peter creation_date: 2012-04-22T01:42:04Z [Term] id: HP:0011754 name: Pituicytoma def: "A solid, low grade, spindle cell, glial neoplasm of adults that originates in the neurohypophysis or infundibulum. Clinical signs and symptoms include visual disturbance, headache and features of hypopituitarism. Pituicytomas are well-circumscribed, solid masses that can measure up to several centimeters. Histologically, they show a compact architecture consisting of elongate, bipolar spindle cells arranged in interlacing fascicles or assuming a storiform pattern." [DDD:spark, pmid:17618441, pmid:19109577] xref: ICD-O:9432/1 "Pituicytoma" xref: SNOMEDCT_US:450901008 xref: SNOMEDCT_US:608817003 xref: UMLS:C2986550 is_a: HP:0011752 ! Neoplasm of the posterior pituitary created_by: peter creation_date: 2012-04-22T01:34:00Z [Term] id: HP:0011755 name: Ectopic posterior pituitary def: "An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis." [DDD:spark, HPO:probinson] synonym: "Ectopic neurohypophysis" EXACT [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:715727009 xref: UMLS:C3279571 xref: UMLS:C4053775 is_a: HP:0011753 ! Posterior pituitary dysgenesis created_by: peter creation_date: 2012-04-22T01:43:25Z [Term] id: HP:0011756 name: Posterior pituitary agenesis def: "Absence of the neurohypophysis owing to a developmental defect." [DDD:spark] synonym: "Neurohypophysis agenesis" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4023203 is_a: HP:0011753 ! Posterior pituitary dysgenesis created_by: peter creation_date: 2012-04-22T01:55:35Z [Term] id: HP:0011757 name: Posterior pituitary hypoplasia def: "Underdevelopment of the neurohypophysis." [DDD:spark] synonym: "Neurohypophysis hypoplasia" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4023202 is_a: HP:0011753 ! Posterior pituitary dysgenesis created_by: peter creation_date: 2012-04-22T01:56:23Z [Term] id: HP:0011758 name: Pituitary acidophilic stem cell adenoma xref: UMLS:C4023201 is_a: HP:0002893 ! Pituitary adenoma created_by: peter creation_date: 2012-04-22T03:03:47Z [Term] id: HP:0011759 name: Pituitary gonadotropic cell adenoma def: "A type of pituitary adenoma that produces gonadotropins." [DDD:spark] synonym: "Pituitary gonadotropinoma" EXACT [] xref: UMLS:C4021122 is_a: HP:0002893 ! Pituitary adenoma created_by: peter creation_date: 2012-04-22T03:37:35Z [Term] id: HP:0011760 name: Pituitary growth hormone cell adenoma def: "A type of pituitary adenoma that produces growth hormone." [DDD:spark] synonym: "Pituitary somatotropinoma" EXACT [] xref: UMLS:C4018860 is_a: HP:0002893 ! Pituitary adenoma created_by: peter creation_date: 2012-04-22T03:38:10Z [Term] id: HP:0011761 name: Pituitary null cell adenoma def: "A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess." [DDD:spark] synonym: "Clinically silent pituitary adenoma" EXACT [] synonym: "Hormonally silent pituitary adenoma" EXACT [] synonym: "Non-functional pituitary adenoma" EXACT [] synonym: "Silent pituitary adenoma" EXACT [] xref: SNOMEDCT_US:254962005 xref: UMLS:C0338078 is_a: HP:0002893 ! Pituitary adenoma created_by: peter creation_date: 2012-04-22T03:39:00Z [Term] id: HP:0011762 name: Pituitary thyrotropic cell adenoma def: "A type of pituitary adenoma that produces thyroid stimulating hormone (TSH)." [DDD:spark] synonym: "Pituitary thyrotropinoma" EXACT [] xref: UMLS:C4021121 is_a: HP:0002893 ! Pituitary adenoma created_by: peter creation_date: 2012-04-22T03:42:08Z [Term] id: HP:0011763 name: Pituitary carcinoma def: "A pituitary tumor with subarachnoid, brain, or systemic metastasis. The diagnosis of a pituitary carcinoma requires evidence of metastatic disease, either outside the central nervous system (CNS) or as separate noncontiguous foci within the CNS." [DDD:spark, NCIT:C4536, PMID:15741248] xref: MSH:D010911 xref: SNOMEDCT_US:128665000 xref: SNOMEDCT_US:254955001 xref: UMLS:C0346300 is_a: HP:0011750 ! Neoplasm of the anterior pituitary created_by: peter creation_date: 2012-04-22T03:52:30Z [Term] id: HP:0011764 name: Pituitary spindle cell oncocytoma def: "A spindled-to-epithelioid, oncocytic, nonendocrine neoplasm of the anterior hypophysis that manifests in adults and follows a benign clinical course. Pituitary spindle cell oncocytomas are firm, fibrous, and adherent to surrounding structures and are highly vascular." [DDD:spark, pmid:21886889] xref: UMLS:C4023200 is_a: HP:0011750 ! Neoplasm of the anterior pituitary created_by: peter creation_date: 2012-04-22T03:57:01Z [Term] id: HP:0011765 name: obsolete Ectopic anterior pituitary is_obsolete: true replaced_by: HP:0012731 [Term] id: HP:0011766 name: Abnormality of the parathyroid morphology def: "A structural abnormality of the parathyroid gland." [DDD:spark, HPO:probinson] xref: UMLS:C4023199 is_a: HP:0000828 ! Abnormality of the parathyroid gland created_by: peter creation_date: 2012-04-22T04:08:26Z [Term] id: HP:0011767 name: Abnormality of the parathyroid physiology def: "A functional abnormality of the parathyroid gland." [DDD:spark, HPO:probinson] synonym: "Parathyroid dysfunction" EXACT layperson [] synonym: "Parathyroid issue" BROAD layperson [] xref: UMLS:C4023198 is_a: HP:0000828 ! Abnormality of the parathyroid gland created_by: peter creation_date: 2012-04-22T04:09:13Z [Term] id: HP:0011768 name: Parathyroid dysgenesis def: "Abnormal embryonic development of the parathyroid gland." [DDD:spark] xref: UMLS:C4023197 is_a: HP:0011766 ! Abnormality of the parathyroid morphology created_by: peter creation_date: 2012-04-22T04:20:41Z [Term] id: HP:0011769 name: Ectopic parathyroid def: "An abnormal anatomical location of the parathyroid gland." [DDD:spark] xref: UMLS:C4023196 is_a: HP:0011768 ! Parathyroid dysgenesis created_by: peter creation_date: 2012-04-22T04:22:26Z [Term] id: HP:0011770 name: Tertiary hyperparathyroidism def: "A type of hyperparathyroidism that occurs following kidney transplantation, which is a treatment for secondary hyperparathyroidism. Although kidney transplantation leads to a normalization of serum calcium and parathyroid hormone in most patients. The state of persistent hypercalcemia and hyperparathyroidism is referred to as tertiary hyperparathyroidism." [DDD:spark] xref: SNOMEDCT_US:78200003 xref: UMLS:C0271858 is_a: HP:0000843 ! Hyperparathyroidism created_by: peter creation_date: 2012-04-22T04:38:20Z [Term] id: HP:0011771 name: Autoimmune hypoparathyroidism def: "A type of hypoparathyroidism with circulating antiparathyroid or anti-calcium sensing receptor antibodies indicative of autoimmunity." [DDD:spark, pmid:19328421] xref: SNOMEDCT_US:75316000 xref: UMLS:C0271865 is_a: HP:0000829 ! Hypoparathyroidism created_by: peter creation_date: 2012-04-22T04:54:37Z [Term] id: HP:0011772 name: Abnormality of thyroid morphology def: "A structural abnormality of the thyroid gland." [DDD:spark] synonym: "Abnormal shape of thyroid gland" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023195 is_a: HP:0000820 ! Abnormality of the thyroid gland created_by: peter creation_date: 2012-04-22T05:54:57Z [Term] id: HP:0011773 name: Uninodular goiter def: "Enlargement of the thyroid gland related to a singular nodule in the thyroid gland." [DDD:spark] xref: SNOMEDCT_US:237569006 xref: UMLS:C0342205 is_a: HP:0005994 ! Nodular goiter created_by: peter creation_date: 2012-04-22T05:56:30Z [Term] id: HP:0011774 name: Thyroid follicular adenoma xref: MSH:D013964 xref: SNOMEDCT_US:255033000 xref: SNOMEDCT_US:255034006 xref: UMLS:C0151468 is_a: HP:0000854 ! Thyroid adenoma created_by: peter creation_date: 2012-04-22T06:01:31Z [Term] id: HP:0011775 name: Thyroid macrofollicular adenoma xref: UMLS:C4023194 is_a: HP:0011774 ! Thyroid follicular adenoma created_by: peter creation_date: 2012-04-22T06:01:42Z [Term] id: HP:0011776 name: Thyroid microfollicular adenoma xref: UMLS:C4023193 is_a: HP:0011774 ! Thyroid follicular adenoma created_by: peter creation_date: 2012-04-22T06:01:48Z [Term] id: HP:0011777 name: Thyroid papillary adenoma xref: UMLS:C4023192 is_a: HP:0000854 ! Thyroid adenoma created_by: peter creation_date: 2012-04-22T06:02:12Z [Term] id: HP:0011778 name: Thyroid atypical adenoma xref: UMLS:C4023191 is_a: HP:0000854 ! Thyroid adenoma created_by: peter creation_date: 2012-04-22T06:02:26Z [Term] id: HP:0011779 name: Anaplastic thyroid carcinoma xref: MSH:D065646 xref: SNOMEDCT_US:255031003 xref: UMLS:C0238461 is_a: HP:0002890 ! Thyroid carcinoma created_by: peter creation_date: 2012-04-22T06:02:52Z [Term] id: HP:0011780 name: Thyroid hemiagenesis def: "Absence of a lobe of the thyroid gland related to a failure of its embryologic development." [DDD:spark] xref: SNOMEDCT_US:715734006 xref: UMLS:C4023190 is_a: HP:0008188 ! Thyroid dysgenesis created_by: peter creation_date: 2012-04-22T06:04:32Z [Term] id: HP:0011781 name: Thyroid C cell hyperplasia def: "An abnormal growth of parafollicular (C-cells) cells." [DDD:spark, HPO:probinson] comment: Thyroid C cell hyperplasia usually occurs before the development of familial forms of medullary thyroid cancer and is considered a pre-cancerous condition. xref: SNOMEDCT_US:237552009 xref: UMLS:C0342190 is_a: HP:0008249 ! Thyroid hyperplasia created_by: peter creation_date: 2012-04-22T06:05:57Z [Term] id: HP:0011782 name: Thyroid crisis xref: MSH:D013958 xref: SNOMEDCT_US:29028009 xref: UMLS:C0040127 is_a: HP:0000836 ! Hyperthyroidism created_by: peter creation_date: 2012-04-22T06:10:37Z [Term] id: HP:0011783 name: Thyrotoxicosis from ectopic thyroid tissue xref: SNOMEDCT_US:87232008 xref: UMLS:C0154148 is_a: HP:0000836 ! Hyperthyroidism created_by: peter creation_date: 2012-04-22T06:10:51Z [Term] id: HP:0011784 name: Thyrotoxicosis with diffuse goiter synonym: "Thyrotoxicosis with diffuse goitre" EXACT [] xref: SNOMEDCT_US:267374005 xref: UMLS:C0342122 is_a: HP:0000836 ! Hyperthyroidism created_by: peter creation_date: 2012-04-22T06:11:09Z [Term] id: HP:0011785 name: Thyrotoxicosis with toxic multinodular goitre xref: SNOMEDCT_US:26389007 xref: UMLS:C0154143 is_a: HP:0000836 ! Hyperthyroidism created_by: peter creation_date: 2012-04-22T06:15:52Z [Term] id: HP:0011786 name: Thyrotoxicosis with toxic single thyroid nodule xref: SNOMEDCT_US:69329005 xref: SNOMEDCT_US:73869005 xref: UMLS:C0154141 is_a: HP:0000836 ! Hyperthyroidism created_by: peter creation_date: 2012-04-22T06:16:09Z [Term] id: HP:0011787 name: Central hypothyroidism def: "A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects." [DDD:spark, pmid:18415684] xref: SNOMEDCT_US:26692000 xref: UMLS:C0271801 is_a: HP:0000821 ! Hypothyroidism created_by: peter creation_date: 2012-04-22T06:25:45Z [Term] id: HP:0011788 name: Increased circulating free T3 def: "An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation." [HPO:probinson] synonym: "Increased serum free T3" EXACT [] synonym: "Increased serum free triiodothyronine" EXACT [] synonym: "Increased serum fT3" EXACT HP:0045077 [] xref: UMLS:C4021843 is_a: HP:0032209 ! Abnormal circulating free T3 concentration created_by: peter creation_date: 2012-04-22T06:31:08Z [Term] id: HP:0011789 name: Thyroid-stimulating hormone receptor defect synonym: "TSHR defect" EXACT [] xref: UMLS:C4023189 is_a: HP:0002926 ! Abnormality of thyroid physiology created_by: peter creation_date: 2012-04-22T06:32:33Z [Term] id: HP:0011790 name: Activating thyroid-stimulating hormone receptor defect def: "Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect." [DDD:spark] synonym: "Activating TSHR defect" EXACT [] xref: UMLS:C4023188 is_a: HP:0011789 ! Thyroid-stimulating hormone receptor defect created_by: peter creation_date: 2012-04-22T06:34:35Z [Term] id: HP:0011791 name: Inactivating thyroid-stimulating hormone receptor defect def: "Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect." [DDD:spark] synonym: "Inactivating TSHR defect" EXACT [] xref: UMLS:C4023187 is_a: HP:0011789 ! Thyroid-stimulating hormone receptor defect created_by: peter creation_date: 2012-04-22T06:35:14Z [Term] id: HP:0011792 name: Neoplasm by histology def: "Neoplasm categorized according to type of histological abnormality." [DDD:rscott] xref: UMLS:C4023186 is_a: HP:0002664 ! Neoplasm created_by: peter creation_date: 2012-04-22T06:57:50Z [Term] id: HP:0011793 name: Neoplasm by anatomical site def: "Neoplasm categorized according to the anatomical site of origin of the neoplasm." [DDD:rscott] xref: UMLS:C4023185 is_a: HP:0002664 ! Neoplasm created_by: peter creation_date: 2012-04-22T07:00:13Z [Term] id: HP:0011794 name: Embryonal renal neoplasm def: "The presence of an embryonal neoplasm of the kidney that primarily affects children." [DDD:rscott] xref: UMLS:C4023184 is_a: HP:0002898 ! Embryonal neoplasm is_a: HP:0009726 ! Renal neoplasm created_by: peter creation_date: 2012-04-22T07:44:34Z [Term] id: HP:0011795 name: Intralobar nephroblastomatosis def: "Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it)." [DDD:rscott] synonym: "Intralobar nephrogenic rests" EXACT [] xref: SNOMEDCT_US:405934001 xref: UMLS:C1319016 is_a: HP:0008643 ! Nephroblastomatosis created_by: peter creation_date: 2012-04-22T07:50:10Z [Term] id: HP:0011796 name: Perilobar nephroblastomatosis def: "Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar)." [DDD:rscott] synonym: "Perilobar nephrogenic rests" EXACT [] xref: SNOMEDCT_US:405935000 xref: UMLS:C1319017 is_a: HP:0008643 ! Nephroblastomatosis created_by: peter creation_date: 2012-04-22T07:50:25Z [Term] id: HP:0011797 name: Papillary renal cell carcinoma type 1 def: "A type of papillary renal cell carcinoma that is characterized by small cuboidal cells covering thin papillae with a single line of uniform nuclei and small nucleoli." [DDD:rscott, pmid:12429790] xref: UMLS:C1336839 is_a: HP:0006766 ! Papillary renal cell carcinoma created_by: peter creation_date: 2012-04-22T08:03:34Z [Term] id: HP:0011798 name: Renal oncocytoma def: "A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm." [DDD:rscott] comment: Renal oncocytoma is seen in Birt-Hogg-Dube syndrome (OMIM 135150). xref: MSH:C537750 xref: SNOMEDCT_US:254922006 xref: UMLS:C0346255 is_a: HP:0009726 ! Renal neoplasm created_by: peter creation_date: 2012-04-22T08:13:36Z [Term] id: HP:0011799 name: Abnormality of facial soft tissue synonym: "Abnormality of facial soft tissue" EXACT layperson [] synonym: "Anomaly of facial soft tissue" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Deformity of facial soft tissue" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of facial soft tissue" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4023183 is_a: HP:0000271 ! Abnormality of the face created_by: peter creation_date: 2012-04-23T07:27:57Z [Term] id: HP:0011800 name: Midface retrusion alt_id: HP:0040199 def: "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [DDD:jclayton-smith, pmid:19125436] subset: hposlim_core synonym: "Decreased projection of midface" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased size of midface" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Flat midface" EXACT [] synonym: "Hypoplasia of midface" EXACT [] synonym: "Hypotrophic midface" RELATED [ORCID:0000-0001-5889-4463] synonym: "Midface deficiency" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Midface hypoplasia" EXACT [HPO:skoehler] synonym: "Midface retrusion" EXACT layperson [] synonym: "Midface, flat" EXACT [] synonym: "Retrusive midface" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] synonym: "Small midface" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of midface" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1853242 xref: UMLS:C2673410 xref: UMLS:C4280320 xref: UMLS:C4280321 is_a: HP:0000309 ! Abnormality of the midface created_by: peter creation_date: 2012-04-24T07:46:05Z [Term] id: HP:0011801 name: Enlargement of parotid gland def: "Increased size of the parotid gland." [DDD:jclayton-smith] synonym: "Hyperplasia of parotid gland" EXACT [] synonym: "Hypertrophy of parotid gland" RELATED [ORCID:0000-0001-5889-4463] synonym: "Increased size of parotid gland" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:29748005 xref: UMLS:C0341047 is_a: HP:0000197 ! Abnormal parotid gland morphology created_by: peter creation_date: 2012-04-24T07:59:05Z [Term] id: HP:0011802 name: Hamartoma of tongue def: "A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue." [HPO:probinson, pmid:17667541] synonym: "Lingual hamartoma" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:253753005 xref: UMLS:C0431565 is_a: HP:0100648 ! Neoplasm of the tongue created_by: peter creation_date: 2012-04-24T08:02:16Z [Term] id: HP:0011803 name: Bifid nose def: "Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip." [pmid:19152422] comment: This is a bundled term, but as it is useful in practice it is kept here. If it is only an indentation or cleft of the nasal tip, this should be coded as Bifid nasal tip. subset: hposlim_core synonym: "Bifid nasal bridge" EXACT [ORCID:0000-0001-5889-4463] synonym: "Cleft nasal bridge" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Cleft nose" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Indentation or clefting of the nose" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Indented bridge of nose" RELATED layperson [ORCID:0000-0001-5889-4463] xref: MSH:C535441 xref: SNOMEDCT_US:204521002 xref: UMLS:C0221363 xref: UMLS:C4280318 xref: UMLS:C4280319 is_a: HP:0004122 ! Midline defect of the nose created_by: peter creation_date: 2012-04-25T08:09:58Z [Term] id: HP:0011804 name: Abnormal muscle physiology def: "A functional abnormality of a skeletal muscle." [HPO:probinson] synonym: "Abnormality of muscle physiology" EXACT [] synonym: "Issue with muscle function" EXACT layperson [] xref: UMLS:C4023182 is_a: HP:0003011 ! Abnormality of the musculature created_by: peter creation_date: 2012-04-25T02:00:15Z [Term] id: HP:0011805 name: Abnormal muscle morphology alt_id: HP:0003735 def: "A structural abnormality of a skeletal muscle." [HPO:probinson] synonym: "Abnormality of muscle morphology" EXACT [] synonym: "Abnormally shaped muscle" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Issue with muscle structure" EXACT layperson [] xref: UMLS:C4023181 is_a: HP:0003011 ! Abnormality of the musculature created_by: peter creation_date: 2012-04-25T02:00:34Z [Term] id: HP:0011807 name: Type 1 muscle fiber atrophy def: "Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy." [HPO:probinson] xref: UMLS:C4023180 is_a: HP:0100295 ! Muscle fiber atrophy created_by: peter creation_date: 2012-04-26T12:05:14Z [Term] id: HP:0011808 name: Decreased patellar reflex def: "Decreased intensity of the patellar reflex (also known as the knee jerk reflex)." [HPO:probinson] synonym: "Decreased knee jerk reflex" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Decreased patellar reflexes" EXACT [HPO:skoehler] xref: UMLS:C3277184 is_a: HP:0002600 ! Hyporeflexia of lower limbs created_by: peter creation_date: 2012-04-27T08:38:22Z [Term] id: HP:0011809 name: Paradoxical myotonia def: "A type of myotonia that worsens with repeated muscle contractions." [HPO:probinson, pmid:7678441] comment: In classic myotonia the myotonia improves as muscles warm up, whereas in paradoxical myotonia (paramyotonia) it worsens with repeated muscle contractions. xref: UMLS:C4023179 is_a: HP:0002486 ! Myotonia created_by: peter creation_date: 2012-04-27T01:20:08Z [Term] id: HP:0011810 name: Impaired two-point discrimination def: "A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart." [HPO:probinson] comment: A normal individual can sense about a 3 mm separation of points on the fingertips. xref: UMLS:C4023178 is_a: HP:0011730 ! Abnormality of central sensory function created_by: peter creation_date: 2012-04-28T02:50:12Z [Term] id: HP:0011811 name: Impaired touch localization def: "A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip." [HPO:probinson] synonym: "Impaired topognosis" EXACT [ORCID:0000-0001-6908-9849] synonym: "Impaired touch localisation" EXACT HP:0045076 [] xref: UMLS:C4021120 is_a: HP:0011730 ! Abnormality of central sensory function created_by: peter creation_date: 2012-04-28T02:54:44Z [Term] id: HP:0011812 name: Agraphesthesia def: "Impaired ability to recognize letters or numbers drawn by an examiner's fingertip on the patient's skin (the patients eyes are closed or covered throughout this examination)." [HPO:probinson] xref: UMLS:C1328618 is_a: HP:0011730 ! Abnormality of central sensory function created_by: peter creation_date: 2012-04-28T02:56:29Z [Term] id: HP:0011813 name: Increased cerebral lipofuscin def: "Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient." [HPO:probinson, pmid:9531959] xref: UMLS:C4023177 is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system created_by: peter creation_date: 2012-04-28T03:17:57Z [Term] id: HP:0011814 name: Increased urinary hypoxanthine def: "An increased level of hypoxanthine in the urine." [HPO:probinson] xref: UMLS:C3810487 is_a: HP:0003110 ! Abnormality of urine homeostasis created_by: peter creation_date: 2012-04-28T03:38:52Z [Term] id: HP:0011815 name: Cephalocele def: "A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect." [HPO:probinson, PMID:24931720] comment: A cephalocele is a rare birth defect that is characterized by a sac-like mass protruding through a defective opening in the skull. The sac varies in size that typically consists of herniated meninges and brain tissue (meningoencephalocele or encephalocele) or fragments of disorganized neural tissue. Alternatively, the sac may contain only the meninges (cranial meningocele) or it may include part of the ventricle filled with CSF (encephalocystocele) covered by skin (from PMID:24931720). xref: MSH:D004677 xref: SNOMEDCT_US:253101008 xref: SNOMEDCT_US:48777005 xref: SNOMEDCT_US:55999004 xref: UMLS:C0014065 is_a: HP:0000929 ! Abnormal skull morphology created_by: peter creation_date: 2012-04-29T09:04:09Z [Term] id: HP:0011816 name: Parietal encephalocele def: "An encephalocele located between bregma and lambda." [DDD:awilkie, pmid:2773494] xref: SNOMEDCT_US:253109005 xref: UMLS:C0431294 is_a: HP:0002084 ! Encephalocele created_by: peter creation_date: 2012-04-29T09:07:38Z [Term] id: HP:0011817 name: Basal encephalocele def: "Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares." [HPO:probinson, pmid:4966739] comment: The skull base is made up of the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. xref: UMLS:C4023176 is_a: HP:0002084 ! Encephalocele created_by: peter creation_date: 2012-04-29T09:14:34Z [Term] id: HP:0011818 name: Nasofrontal encephalocele synonym: "Naso-frontal encephalocele" EXACT [] xref: SNOMEDCT_US:253106003 xref: UMLS:C0431291 is_a: HP:0007330 ! Frontal encephalocele created_by: peter creation_date: 2012-04-29T09:20:25Z [Term] id: HP:0011819 name: Submucous cleft soft palate def: "A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue." [HPO:probinson] comment: Often, submucous cleft palate is associated with bifid uvula, but this should be coded separately. The muscles of the soft palate may not function properly, leading to speech problems, middle ear disease, and swallowing difficulties. subset: hposlim_core synonym: "Partial thickness cleft soft palate" EXACT [ORCID:0000-0001-5889-4463] synonym: "Submucous cleft velum" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023175 is_a: HP:0000185 ! Cleft soft palate created_by: peter creation_date: 2012-04-29T09:49:02Z [Term] id: HP:0011820 name: Membranous choanal atresia def: "Absence of the normal opening of the choana (the posterior nasal aperture) as a result of an obstructing choanal membrane that may be thin and strandlike or thick and pluglike." [DDD:jhurst] xref: UMLS:C4023174 is_a: HP:0000453 ! Choanal atresia created_by: peter creation_date: 2012-04-29T01:12:43Z [Term] id: HP:0011821 name: Abnormality of facial skeleton def: "An abnormality of one or more of the set of bones that make up the facial skeleton." [DDD:awilkie] comment: The facial skeleton comprises the mandible, maxilla, frontal bone, nasal bones, and zygoma, as well as the inferior nasal concha, the lacrimal bones, the palatine bone, and the vomer. synonym: "Abnormality of facial bones" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of facial skeleton" EXACT layperson [] synonym: "Anomaly of facial bones" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Anomaly of facial skeleton" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Deformity of facial skeleton" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Deformity of the facial bones" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of facial bones" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of facial skeleton" NARROW layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:433096001 xref: UMLS:C2315229 is_a: HP:0000929 ! Abnormal skull morphology created_by: peter creation_date: 2012-04-29T04:37:30Z [Term] id: HP:0011822 name: Broad chin def: "Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue." [pmid:19125436] subset: hposlim_core synonym: "Broad chin" EXACT layperson [] synonym: "Increased width of chin" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased width of menton region" EXACT [ORCID:0000-0001-5889-4463] synonym: "Wide chin" EXACT layperson [] xref: UMLS:C4023172 is_a: HP:0000306 ! Abnormality of the chin created_by: peter creation_date: 2012-04-30T08:23:35Z [Term] id: HP:0011823 name: Chin with horizontal crease def: "Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest." [pmid:19125436] synonym: "Chin with horizontal crease" EXACT layperson [] synonym: "Chin with horizontal furrow" EXACT [] synonym: "Chin with horizontal groove" EXACT layperson [] synonym: "Chin with horizontal sulcus" EXACT [] synonym: "Horizontal chin skin cleft" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Horizontal menton crease" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023171 is_a: HP:0000306 ! Abnormality of the chin created_by: peter creation_date: 2012-04-30T08:33:02Z [Term] id: HP:0011824 name: Chin with H-shaped crease def: "H-shaped crease in the fat pad of the chin." [pmid:19125436] comment: The H-shape must be distinguished from Vertical crease of the chin. synonym: "Chin with H-shaped crease" EXACT layperson [] synonym: "Chin, H-Shaped Crease" EXACT layperson [] synonym: "Chin, H-shaped groove" EXACT layperson [] synonym: "H-shaped dimple of the chin" EXACT layperson [] xref: UMLS:C1860309 is_a: HP:0000306 ! Abnormality of the chin created_by: peter creation_date: 2012-04-30T08:34:24Z [Term] id: HP:0011825 name: Tented philtrum def: "Prominence of a triangular soft tissue area of the philtrum with the apex to the columella." [pmid:19152422] comment: A tented philtrum may accompany a Smooth philtrum. If present this should be coded separately. subset: hposlim_core synonym: "Philtrum, Tented" EXACT [] xref: UMLS:C4021119 is_a: HP:0000288 ! Abnormality of the philtrum created_by: peter creation_date: 2012-05-01T10:32:31Z [Term] id: HP:0011826 name: Philtrum with midline raphe def: "Narrow ridge in the midline of the philtral groove." [pmid:19152422] comment: The ridge may be very subtly elevated. subset: hposlim_core synonym: "Philtrum with central raphe" EXACT [ORCID:0000-0001-5889-4463] synonym: "Philtrum with midline ridge" EXACT [ORCID:0000-0001-5889-4463] synonym: "Philtrum, midline raphe" EXACT [] xref: UMLS:C4021118 is_a: HP:0000288 ! Abnormality of the philtrum created_by: peter creation_date: 2012-05-01T10:33:46Z [Term] id: HP:0011827 name: Malaligned philtral ridges def: "Absence of the usual parallel position of philtral ridges." [pmid:19152422] comment: Hajnis [1972] has described downwards convergent, downwards divergent (trapezoid or triangular), convex (ovoid), and concave philtral configurations. Any of these findings may be coded using this term. subset: hposlim_core synonym: "Asymmetric philtral columns" EXACT [ORCID:0000-0001-5889-4463] synonym: "Asymmetric philtral ridges" EXACT [ORCID:0000-0001-5889-4463] synonym: "Malaligned philtral columns" EXACT [ORCID:0000-0001-5889-4463] synonym: "Philtral Ridges, Malaligned" EXACT [] xref: UMLS:C4021117 is_a: HP:0000288 ! Abnormality of the philtrum created_by: peter creation_date: 2012-05-01T10:35:32Z [Term] id: HP:0011828 name: Midline sinus of philtrum def: "Pit in the midline of the philtral groove." [pmid:19152422] comment: Although congenital sinuses of the lips generally occur in the lower lip, in rare instances they may appear in the philtrum of the upper lip, commonly close to the insertion of the columella. subset: hposlim_core synonym: "Central sinus of philtrum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Philtrum, Midline Sinus" EXACT [] xref: UMLS:C4021116 is_a: HP:0000288 ! Abnormality of the philtrum created_by: peter creation_date: 2012-05-01T10:36:55Z [Term] id: HP:0011829 name: Narrow philtrum def: "Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum." [pmid:19152422] comment: Although congenital sinuses of the lips generally occur in the lower lip, in rare instances they may appear in the philtrum of the upper lip, commonly close to the insertion of the columella. subset: hposlim_core synonym: "Decreased breadth of philtrum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased horizontal dimension of philtrum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased transverse dimension of philtrum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Decreased width of philtrum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Philtrum, Narrow" EXACT [] synonym: "Thin philtrum" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4021115 is_a: HP:0000288 ! Abnormality of the philtrum created_by: peter creation_date: 2012-05-01T10:38:12Z [Term] id: HP:0011830 name: Abnormal oral mucosa morphology def: "Abnormality of the oral mucosa." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of lining of mouth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of mucosa of mouth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of oral mucosa" EXACT [] synonym: "Abnormality of oral mucous membrane" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4023170 is_a: HP:0000163 ! Abnormal oral cavity morphology created_by: peter creation_date: 2012-05-01T10:43:40Z [Term] id: HP:0011831 name: Deviated nasal tip def: "Nasal tip positioned to one side of the midline." [pmid:19152422] comment: There is no specific minimal angle before the tip can be determined to be deviated. The assessment of a mild degree of deviation is highly dependant on the experience of the observer. A deviated nasal septum can accompany a deviated nasal tip. synonym: "Asymmetry of nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Asymmetry of tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Crooked nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Crooked tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Deviated nasal tip" EXACT layperson [] synonym: "Deviated tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Distortion of the nasal tip" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Nasal tip, deviated" EXACT [] xref: UMLS:C4021114 xref: UMLS:C4280271 is_a: HP:0000436 ! Abnormality of the nasal tip created_by: peter creation_date: 2012-05-01T07:37:48Z [Term] id: HP:0011832 name: Narrow nasal tip def: "Decrease in width of the nasal tip." [pmid:19152422] comment: Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available. subset: hposlim_core synonym: "Narrow nasal tip" EXACT layperson [] synonym: "Narrow tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Nasal tip, narrow" EXACT layperson [] synonym: "Nasal tip, pinched" EXACT layperson [] synonym: "Pinched nasal tip" EXACT layperson [] synonym: "Pinched tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Thin nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Thin tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:249331008 xref: UMLS:C0426433 is_a: HP:0000436 ! Abnormality of the nasal tip created_by: peter creation_date: 2012-05-01T07:39:09Z [Term] id: HP:0011833 name: Overhanging nasal tip def: "Positioning of the nasal tip inferior to the nasal base." [pmid:19152422] comment: This finding is often associated with a long nasal ridge. It is best appreciated in profile. This may also coexist with a Depressed nasal tip and Low insertion of the columella and should be coded separately. subset: hposlim_core synonym: "Drooping nasal tip" EXACT layperson [] synonym: "Hooked tip of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Low hanging nasal tip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Nasal tip, overhanging" EXACT layperson [] synonym: "Overhanging nasal tip" EXACT layperson [] xref: SNOMEDCT_US:249328007 xref: UMLS:C0426430 is_a: HP:0000436 ! Abnormality of the nasal tip created_by: peter creation_date: 2012-05-01T07:42:15Z [Term] id: HP:0011834 name: Moyamoya phenomenon def: "A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis." [HPO:probinson] comment: Cerebral angiography shows puff-of-smoke (moyamoya) collaterals at the base of the brain. xref: UMLS:C4023169 is_a: HP:0009145 ! Abnormal cerebral artery morphology created_by: peter creation_date: 2012-05-05T03:24:26Z [Term] id: HP:0011835 name: Absent scaphoid def: "Congenital absence of the scaphoid.." [DDD:jcampbell] synonym: "Absent scaphoid bone" RELATED [HPO:skoehler] synonym: "Missing scaphoid bone" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C1847189 is_a: HP:0004231 ! Carpal bone aplasia created_by: peter creation_date: 2012-05-05T07:37:35Z [Term] id: HP:0011836 name: Delayed talus ossification def: "Delayed maturation and calcification of the talus." [HPO:probinson] xref: UMLS:C4023168 is_a: HP:0008365 ! Abnormality of the talus is_a: HP:0008369 ! Abnormal tarsal ossification created_by: peter creation_date: 2012-05-05T08:39:24Z [Term] id: HP:0011837 name: Partial IgA deficiency def: "Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means." [HPO:probinson] xref: UMLS:C4023167 is_a: HP:0002720 ! Decreased circulating IgA level created_by: peter creation_date: 2012-05-06T09:42:01Z [Term] id: HP:0011838 name: Sclerodactyly def: "Localized thickening and tightness of the skin of the fingers or toes." [HPO:probinson] xref: ICD-10:L94.3 "Sclerodactyly" xref: SNOMEDCT_US:201051000 xref: SNOMEDCT_US:298285004 xref: UMLS:C0150988 is_a: HP:0001072 ! Thickened skin created_by: peter creation_date: 2012-05-06T10:04:27Z [Term] id: HP:0011839 name: Abnormal T cell count def: "A deviation from the normal count of T cells." [HPO:probinson] synonym: "Abnormal number of T cells" EXACT [HPO:skoehler] synonym: "Abnormality of T cell number" EXACT [HPO:skoehler] xref: UMLS:C4021113 is_a: HP:0002843 ! Abnormal T cell morphology is_a: HP:0040088 ! Abnormal lymphocyte count created_by: peter creation_date: 2012-05-06T10:43:44Z [Term] id: HP:0011840 name: Abnormality of T cell physiology alt_id: HP:0005402 def: "A functional anomaly of T cells." [HPO:probinson] xref: UMLS:C4023166 is_a: HP:0031409 ! Abnormal lymphocyte physiology created_by: peter creation_date: 2012-05-06T10:44:50Z [Term] id: HP:0011841 name: Ventricular flutter def: "A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance." [HPO:probinson] comment: If untreated, ventricular flutter typically progresses to ventricular fibrillation. xref: MSH:D054141 xref: SNOMEDCT_US:111288001 xref: UMLS:C0152173 is_a: HP:0004756 ! Ventricular tachycardia created_by: peter creation_date: 2012-05-06T06:46:54Z [Term] id: HP:0011842 name: Abnormality of skeletal morphology def: "An abnormality of the form, structure, or size of the skeletal system." [HPO:probinson] synonym: "Abnormally shaped skeletal" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023165 is_a: HP:0000924 ! Abnormality of the skeletal system created_by: peter creation_date: 2012-05-07T08:08:37Z [Term] id: HP:0011843 name: Abnormality of skeletal physiology def: "An abnormality of the function of the skeletal system." [HPO:probinson] xref: UMLS:C4023164 is_a: HP:0000924 ! Abnormality of the skeletal system created_by: peter creation_date: 2012-05-07T08:09:43Z [Term] id: HP:0011844 name: Abnormal appendicular skeleton morphology def: "An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles." [HPO:probinson] xref: UMLS:C4023163 is_a: HP:0011842 ! Abnormality of skeletal morphology created_by: peter creation_date: 2012-05-07T08:12:26Z [Term] id: HP:0011845 name: Short second metatarsal def: "Short (hypoplastic) second metatarsal bone." [HPO:probinson] synonym: "Short 2nd long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023162 is_a: HP:0010743 ! Short metatarsal is_a: HP:0040034 ! Abnormality of the second metatarsal bone created_by: peter creation_date: 2012-05-08T07:36:00Z [Term] id: HP:0011846 name: Osteoblastoma def: "A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue." [HPO:probinson] xref: MSH:D018215 xref: SNOMEDCT_US:55333008 xref: UMLS:C0029417 is_a: HP:0010622 ! Neoplasm of the skeletal system created_by: peter creation_date: 2012-05-09T08:34:41Z [Term] id: HP:0011847 name: Giant cell tumor of bone def: "A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts." [HPO:probinson] xref: MSH:D018212 xref: SNOMEDCT_US:57500000 xref: SNOMEDCT_US:697970009 xref: UMLS:C0206638 is_a: HP:0010622 ! Neoplasm of the skeletal system created_by: peter creation_date: 2012-05-09T08:35:52Z [Term] id: HP:0011848 name: Abdominal colic def: "A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity." [] comment: Colicky abdominal pain can be caused by kidney stones and gallstones, among other etiologies. This type of pain is thought to be caused by spasm, obstruction, or distension of any of the hollow viscera of the gastrointestinal system. xref: MSH:D003085 xref: SNOMEDCT_US:9991008 xref: UMLS:C0232488 is_a: HP:0002027 ! Abdominal pain created_by: hecht creation_date: 2012-05-12T07:17:45Z [Term] id: HP:0011849 name: Abnormal bone ossification def: "Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance." [HPO:probinson, PMID:18157903] comment: All bones are formed by the replacement by osteocytes of mesenchyme-derived connective tissue. Intramembranous ossification refers to the direct replacement of primitive mesenchyme with bone, and is responsible for bones such as the calvarium (e.g., frontals, parietals, interparietal) and the clavicula. In endochondral ossification, the mesenchyme differentiates into a cartilaginous intermediate, which serves as a template (anlange) that is subsequently removed and replaced by bone. Most bones are formed via endochondral ossification, including those at the base of the skull, the vertebral column, pectoral and pelvic regions and long bones of the extremities. A reduction in the amount of mineralized bone compared with that expected for a given developmental age. In clinicakl parlance, reduced ossification and delayed ossification are often used synonymously, but in principle a bone delayed ossification in a child can display normal ossification at a later developmental stage. The HPO will therefore treat poor, reduced, and decreased officiation as synonymous, and delayed ossification as a specific kind of reduced ossification. synonym: "Abnormal bone maturation" RELATED layperson [ORCID:0000-0001-5208-3432] xref: MP:0008271 "Abnormal bone ossification" xref: UMLS:C4023161 xref: UMLS:C4280317 is_a: HP:0003330 ! Abnormal bone structure created_by: peter creation_date: 2012-05-15T07:39:58Z [Term] id: HP:0011850 name: Parotitis def: "Inflammation of the parotid gland." [HPO:probinson] xref: MSH:D010309 xref: SNOMEDCT_US:14756005 xref: UMLS:C0030583 is_a: HP:0000197 ! Abnormal parotid gland morphology created_by: hecht creation_date: 2012-05-21T10:33:44Z [Term] id: HP:0011851 name: Hemopericardium def: "Accumulation of blood within the pericardial sac." [HPO:probinson, pmid:10882282] xref: MSH:D010490 xref: SNOMEDCT_US:23412002 xref: UMLS:C0019064 is_a: HP:0001698 ! Pericardial effusion created_by: hecht creation_date: 2012-05-21T10:43:03Z [Term] id: HP:0011852 name: Chylopericardium def: "Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct." [HPO:probinson] xref: MSH:D010490 xref: SNOMEDCT_US:233890005 xref: UMLS:C0242426 is_a: HP:0001698 ! Pericardial effusion created_by: hecht creation_date: 2012-05-21T10:44:29Z [Term] id: HP:0011853 name: Serous pericardial effusion def: "Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac." [HPO:probinson] xref: UMLS:C4023160 is_a: HP:0001698 ! Pericardial effusion created_by: hecht creation_date: 2012-05-21T10:49:08Z [Term] id: HP:0011854 name: Hemoperitoneum def: "Accumulation of blood in the peritoneal cavity owing to internal hemorrhage." [HPO:probinson] synonym: "Hematoperitoneum" RELATED [ORCID:0000-0001-6908-9849] xref: MSH:D006465 xref: SNOMEDCT_US:443826006 xref: SNOMEDCT_US:45626005 xref: UMLS:C0019065 xref: UMLS:C0744735 is_a: HP:0002585 ! Abnormality of the peritoneum created_by: hecht creation_date: 2012-05-21T10:55:34Z [Term] id: HP:0011855 name: Pharyngeal edema def: "Abnormal accumulation of fluid leading to swelling of the pharynx." [HPO:probinson] synonym: "Throat swelling" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:2129002 xref: UMLS:C0236024 is_a: HP:0000600 ! Abnormality of the pharynx is_a: HP:0000969 ! Edema created_by: hecht creation_date: 2012-05-21T11:02:52Z [Term] id: HP:0011856 name: Pica def: "An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month." [HPO:probinson] xref: MSH:D010842 xref: SNOMEDCT_US:14077003 xref: UMLS:C0031873 is_a: HP:0100738 ! Abnormal eating behavior created_by: hecht creation_date: 2012-05-21T11:08:54Z [Term] id: HP:0011857 name: Plasmacytoma def: "A discrete mass of neoplastic monoclonal plasma cells either in the bone marrow or in an extramedullary location." [HPO:probinson] comment: Plasmacytoma often generalizes to multiple myeloma over the course of several years. xref: MSH:D010954 xref: SNOMEDCT_US:10639003 xref: SNOMEDCT_US:415112005 xref: UMLS:C0032131 is_a: HP:0004377 ! Hematological neoplasm created_by: hecht creation_date: 2012-05-21T11:34:44Z [Term] id: HP:0011858 name: Reduced factor IX activity def: "Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa." [HPO:probinson] comment: Severe deficiency of factor IX underlies hemophilia B. synonym: "Low factor IX activity" EXACT [] xref: UMLS:C4023159 is_a: HP:0010989 ! Abnormality of the intrinsic pathway created_by: peter creation_date: 2012-05-26T11:35:57Z [Term] id: HP:0011859 name: Punctate keratitis def: "A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium." [HPO:probinson] xref: SNOMEDCT_US:416300008 xref: UMLS:C1562761 is_a: HP:0000491 ! Keratitis created_by: hecht creation_date: 2012-05-21T12:18:03Z [Term] id: HP:0011860 name: Metaphyseal dappling def: "The presence of spots or rounded patches of abnormally increased density of metaphyseal bone." [HPO:probinson] comment: This finding is characteristic of Strudwick type of spondyloepimetaphyseal dysplasia. synonym: "Dappled metaphyseal sclerosis" EXACT [] xref: UMLS:C4020907 is_a: HP:0004979 ! Metaphyseal sclerosis created_by: peter creation_date: 2012-05-26T04:09:07Z [Term] id: HP:0011861 name: Bilateral trilobed lungs def: "Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes." [HPO:probinson] xref: SNOMEDCT_US:448648001 xref: UMLS:C3164377 is_a: HP:0002101 ! Abnormal lung lobation created_by: peter creation_date: 2012-05-27T01:09:21Z [Term] id: HP:0011862 name: Abnormal bone collagen fibril morphology def: "Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity." [HPO:probinson, MP:0011642] xref: UMLS:C4023158 is_a: HP:0003330 ! Abnormal bone structure created_by: peter creation_date: 2012-05-27T01:32:04Z [Term] id: HP:0011863 name: Abnormal sternal ossification alt_id: HP:0006624 def: "Any anomaly in the formation of the bony substance of the sternum." [HPO:probinson] comment: The sternum develops from two cartilaginous bars, situated one on either side of the median plane and connected with the cartilages of the upper nine ribs of its own side. During development, the two cartilaginous bars fuse with each other to form the cartilaginous sternum. This in turn is ossified from six centers: one in the manubrium, four in the body of the sternum, and one in the xiphoid process. synonym: "Abnormal maturation of breastbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sternal ossification center abnormalities" EXACT [] xref: UMLS:C1860243 is_a: HP:0000766 ! Abnormality of the sternum is_a: HP:0003336 ! Abnormal enchondral ossification created_by: peter creation_date: 2012-05-27T04:08:55Z [Term] id: HP:0011864 name: Elevated plasma pyrophosphate def: "An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate." [HPO:probinson] xref: UMLS:C4023157 is_a: HP:0100529 ! Abnormal blood phosphate concentration created_by: peter creation_date: 2012-05-28T06:05:24Z [Term] id: HP:0011867 name: Abnormality of the wing of the ilium def: "An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally." [HPO:probinson] xref: UMLS:C4023156 is_a: HP:0002867 ! Abnormality of the ilium created_by: peter creation_date: 2012-05-28T07:23:30Z [Term] id: HP:0011868 name: Sciatica def: "Pain in the lower back and hip radiating in the distribution of the sciatic nerve." [HPO:probinson, pmid:17872935] xref: MSH:D012585 xref: SNOMEDCT_US:23056005 xref: UMLS:C0036396 is_a: HP:0003418 ! Back pain created_by: peter creation_date: 2012-05-28T10:34:09Z [Term] id: HP:0011869 name: Abnormal platelet function def: "Any anomaly in the function of thrombocytes." [HPO:probinson] xref: UMLS:C0855740 is_a: HP:0001872 ! Abnormal thrombocyte morphology created_by: peter creation_date: 2012-05-30T05:32:11Z [Term] id: HP:0011870 name: Impaired arachidonic acid-induced platelet aggregation def: "Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid." [DDD:wouwehand] xref: UMLS:C4023155 is_a: HP:0003540 ! Impaired platelet aggregation created_by: peter creation_date: 2012-05-30T05:37:07Z [Term] id: HP:0011871 name: Impaired ristocetin-induced platelet aggregation def: "Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin." [DDD:wouwehand] xref: UMLS:C4023154 is_a: HP:0003540 ! Impaired platelet aggregation is_a: HP:0012146 ! Abnormality of von Willebrand factor created_by: peter creation_date: 2012-05-30T05:39:52Z [Term] id: HP:0011872 name: Impaired thrombin-induced platelet aggregation def: "Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics)." [DDD:wouwehand] xref: UMLS:C4023153 is_a: HP:0003540 ! Impaired platelet aggregation created_by: peter creation_date: 2012-05-30T05:41:52Z [Term] id: HP:0011873 name: Abnormal platelet count def: "Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood." [DDD:kfreson] xref: SNOMEDCT_US:165558001 xref: UMLS:C0580317 is_a: HP:0001872 ! Abnormal thrombocyte morphology created_by: peter creation_date: 2012-05-30T08:11:13Z [Term] id: HP:0011874 name: Heparin-induced thrombocytopenia def: "Low platelet count following administration of unfractionated or (less commonly) low-molecular weight heparin." [HPO:probinson, pmid:16928996] comment: A delay of 5-10 days following administration of heparin is common in patients with no previous (or remote) exposure to heparin, but the drop in platelet count may be precipitous in patients with recent exposure. Heparin-induced thrombocytopenia is caused by antibodies against platelet factor 4. xref: SNOMEDCT_US:73397007 xref: UMLS:C0272285 is_a: HP:0001873 ! Thrombocytopenia created_by: peter creation_date: 2012-05-30T08:31:16Z [Term] id: HP:0011875 name: Abnormal platelet morphology def: "An anomaly in platelet form, ultrastructure, or intracellular organelles." [DDD:kfreson] synonym: "Abnormal shape of platelets" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C0855742 is_a: HP:0001872 ! Abnormal thrombocyte morphology created_by: peter creation_date: 2012-05-31T03:43:59Z [Term] id: HP:0011876 name: Abnormal platelet volume def: "Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers." [HPO:probinson] xref: UMLS:C4023152 is_a: HP:0001872 ! Abnormal thrombocyte morphology created_by: peter creation_date: 2012-05-31T03:46:13Z [Term] id: HP:0011877 name: Increased mean platelet volume def: "Average platelet volume above the upper limit of the normal reference interval." [DDD:wouwehand] comment: Mean platelet volume (MPV) is a measure of the average size of platelets, with a typical reference range of 7.5 to 11.5 femtoliters (fL). synonym: "Large platelets" EXACT layperson [] xref: UMLS:C1096367 is_a: HP:0011876 ! Abnormal platelet volume created_by: peter creation_date: 2012-05-31T03:58:17Z [Term] id: HP:0011878 name: Abnormal platelet membrane protein expression def: "Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry." [DDD:wouwehand] xref: UMLS:C4023151 is_a: HP:0011869 ! Abnormal platelet function created_by: peter creation_date: 2012-05-31T04:00:21Z [Term] id: HP:0011879 name: Decreased platelet glycoprotein Ib-IX-V def: "Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V." [DDD:wouwehand, pmid:10605725] comment: The glycoprotein Ib-IX-V complex forms a specific platelet membrane adhesion receptor, which binds the adhesive glycoprotein, von Willebrand factor (vWF), in the vessel wall or plasma. xref: UMLS:C4023150 is_a: HP:0011878 ! Abnormal platelet membrane protein expression created_by: peter creation_date: 2012-05-31T04:01:34Z [Term] id: HP:0011880 name: Acute disseminated intravascular coagulation def: "An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed." [HPO:probinson] xref: UMLS:C4023149 is_a: HP:0005521 ! Disseminated intravascular coagulation created_by: peter creation_date: 2012-06-02T04:49:50Z [Term] id: HP:0011881 name: Decreased platelet glycoprotein VI def: "Decreased cell membrane concentration of glycoprotein VI." [DDD:wouwehand] comment: The glycoprotein VI is a glycoprotein receptor for collagen. xref: UMLS:C4023148 is_a: HP:0011878 ! Abnormal platelet membrane protein expression created_by: peter creation_date: 2012-06-02T09:17:33Z [Term] id: HP:0011882 name: Decreased platelet P2Y12 receptor def: "Decreased cell membrane concentration of P2Y12 receptor." [DDD:wouwehand, pmid:14755328] comment: The P2Y12 receptor is activated by ADP and plays a central role in platelet activation. xref: UMLS:C4023147 is_a: HP:0011878 ! Abnormal platelet membrane protein expression created_by: peter creation_date: 2012-06-02T09:18:58Z [Term] id: HP:0011883 name: Abnormal platelet granules def: "An anomaly of alpha or dense granules or platelet lysosomes." [DDD:wouwehand, pmid:18041654] comment: Platelets contain two classes of granule: the alpha granules and the dense granules. During platelet activation, the contents of the granules are discharged into the lumen of the open canalicular system, from which they are then released to the extracellular space. xref: UMLS:C4023146 is_a: HP:0011875 ! Abnormal platelet morphology created_by: peter creation_date: 2012-06-02T09:47:57Z [Term] id: HP:0011884 name: Abnormal umbilical stump bleeding def: "Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth." [DDD:akelly] xref: UMLS:C4023145 is_a: HP:0001892 ! Abnormal bleeding created_by: peter creation_date: 2012-06-02T10:25:45Z [Term] id: HP:0011885 name: Hemorrhage of the eye def: "Bleeding from vessels of the various tissues of the eye." [DDD:akelly] synonym: "Bleeding from the eye" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Haemorrhage of the eye" RELATED [] xref: MSH:D005130 xref: SNOMEDCT_US:417244000 xref: SNOMEDCT_US:93478000 xref: UMLS:C0015402 is_a: HP:0011029 ! Internal hemorrhage is_a: HP:0012373 ! Abnormal eye physiology created_by: peter creation_date: 2012-06-02T10:44:39Z [Term] id: HP:0011886 name: Hyphema def: "Bleeding in the anterior chamber of the eye." [HPO:probinson] xref: MSH:D006988 xref: SNOMEDCT_US:75229002 xref: UMLS:C0020581 is_a: HP:0011885 ! Hemorrhage of the eye created_by: peter creation_date: 2012-06-02T10:49:36Z [Term] id: HP:0011887 name: Choroid hemorrhage def: "Hemorrhage from the vessels of the choroid." [HPO:probinson] synonym: "Choroidal hemorrhage" EXACT [] xref: MSH:D002832 xref: SNOMEDCT_US:122003 xref: UMLS:C0008522 is_a: HP:0011885 ! Hemorrhage of the eye created_by: peter creation_date: 2012-06-02T10:50:39Z [Term] id: HP:0011888 name: Bleeding requiring red cell transfusion def: "Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4)." [DDD:akelly] synonym: "Bleeding requiring red cell transfusion" EXACT layperson [] xref: UMLS:C4023144 is_a: HP:0001892 ! Abnormal bleeding created_by: peter creation_date: 2012-06-02T11:31:44Z [Term] id: HP:0011889 name: Bleeding with minor or no trauma def: "Significant bleeding or hemorrhage without significant precipitating factor." [DDD:kfreson] synonym: "Bleeding with minor or no trauma" EXACT layperson [] synonym: "Easy bleeding" EXACT layperson [] xref: UMLS:C4023143 is_a: HP:0001892 ! Abnormal bleeding created_by: peter creation_date: 2012-06-02T11:32:13Z [Term] id: HP:0011890 name: Prolonged bleeding following procedure def: "Prolonged or protracted bleeding following an invasive procedure or intervention." [DDD:akelly] synonym: "Prolonged bleeding following procedure" EXACT layperson [] xref: UMLS:C4023142 is_a: HP:0001892 ! Abnormal bleeding created_by: peter creation_date: 2012-06-02T11:33:38Z [Term] id: HP:0011891 name: Post-partum hemorrhage def: "Significant maternal haemorrhage/blood loss following deilvery of a child." [DDD:akelly] synonym: "Bleeding post-delivery" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Post-partum haemorrhage" EXACT [] xref: MSH:D006473 xref: SNOMEDCT_US:47821001 xref: UMLS:C0032797 is_a: HP:0011890 ! Prolonged bleeding following procedure created_by: peter creation_date: 2012-06-02T11:35:46Z [Term] id: HP:0011892 name: Low levels of vitamin K def: "A reduced concentration of vitamin K." [] xref: MSH:D014813 xref: SNOMEDCT_US:52675005 xref: UMLS:C0042880 is_a: HP:0100831 ! Abnormality of vitamin K metabolism created_by: peter creation_date: 2012-06-02T05:21:14Z [Term] id: HP:0011893 name: Abnormal leukocyte count def: "Number of leukocytes per volume of blood beyond normal limits." [HPO:probinson] synonym: "Abnormal white blood cell count" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:165509000 xref: UMLS:C0580531 is_a: HP:0001881 ! Abnormal leukocyte morphology created_by: peter creation_date: 2012-06-02T05:32:39Z [Term] id: HP:0011894 name: Impaired thromboxane A2 agonist-induced platelet aggregation def: "Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists." [DDD:wouwehand] xref: UMLS:C4023141 is_a: HP:0003540 ! Impaired platelet aggregation created_by: peter creation_date: 2012-06-03T08:51:33Z [Term] id: HP:0011895 name: Anemia due to reduced life span of red cells def: "A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days." [DDD:akelly] synonym: "Anaemia due to reduced life span of red cells" EXACT [] xref: UMLS:C4021112 is_a: HP:0001903 ! Anemia created_by: peter creation_date: 2012-06-03T09:26:17Z [Term] id: HP:0011896 name: Subconjunctival hemorrhage def: "Bleeding beneath the mucous membrane that lines the inner surface of the eyelid." [DDD:akelly] synonym: "Subconjunctival haemorrhage" RELATED [] xref: SNOMEDCT_US:78768009 xref: UMLS:C0038534 is_a: HP:0011885 ! Hemorrhage of the eye created_by: peter creation_date: 2012-06-03T03:11:41Z [Term] id: HP:0011897 name: Neutrophilia def: "Increased number of neutrophils circulating in blood." [DDD:akelly] synonym: "Increased blood neutrophil counts" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023140 is_a: HP:0011991 ! Abnormal neutrophil count created_by: peter creation_date: 2012-06-03T03:16:43Z [Term] id: HP:0011898 name: Abnormality of circulating fibrinogen def: "An abnormality of the level of activity of circulating fibrinogen." [DDD:akelly] comment: Fibrinogen is an essential hemostatic factor that is converted to fibrin (a final product of the hemostatic pathway) by activated thrombin. xref: UMLS:C4023139 is_a: HP:0010990 ! Abnormality of the common coagulation pathway created_by: peter creation_date: 2012-06-03T03:35:43Z [Term] id: HP:0011899 name: Hyperfibrinogenemia def: "Increased concentration of fibrinogen in the blood." [DDD:akelly] xref: SNOMEDCT_US:439000005 xref: UMLS:C0919890 is_a: HP:0011898 ! Abnormality of circulating fibrinogen created_by: peter creation_date: 2012-06-03T03:38:36Z [Term] id: HP:0011900 name: Hypofibrinogenemia def: "Decreased concentration of fibrinogen in the blood." [HPO:probinson] synonym: "Low fibrinogen activity" EXACT [] synonym: "Low fibrinogen level" EXACT [] xref: SNOMEDCT_US:234457009 xref: UMLS:C0553681 is_a: HP:0011898 ! Abnormality of circulating fibrinogen created_by: peter creation_date: 2012-06-03T03:39:47Z [Term] id: HP:0011901 name: Dysfibrinogenemia def: "Qualitatively abnormal fibrinogen." [DDD:akelly] synonym: "Dysfibrinogenaemia" EXACT [] xref: SNOMEDCT_US:111589005 xref: UMLS:C1260903 is_a: HP:0011898 ! Abnormality of circulating fibrinogen created_by: peter creation_date: 2012-06-03T03:40:21Z [Term] id: HP:0011902 name: Abnormal hemoglobin def: "Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes." [HPO:probinson] synonym: "Abnormal Hb" EXACT HP:0045077 [] xref: UMLS:C0349705 is_a: HP:0001877 ! Abnormal erythrocyte morphology created_by: peter creation_date: 2012-06-03T03:53:23Z [Term] id: HP:0011903 name: HbH hemoglobin def: "Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia." [HPO:probinson, pmid:21345100] synonym: "Hemoglobin H" EXACT [] xref: SNOMEDCT_US:48553001 xref: UMLS:C3161174 is_a: HP:0011902 ! Abnormal hemoglobin created_by: peter creation_date: 2012-06-03T04:59:15Z [Term] id: HP:0011904 name: Persistence of hemoglobin F def: "Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobiin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent." [HPO:probinson] synonym: "Increased hemoglobin F" EXACT [] synonym: "Persistence of HbF" EXACT HP:0045077 [] xref: UMLS:C0239941 is_a: HP:0011902 ! Abnormal hemoglobin created_by: peter creation_date: 2012-06-03T05:03:00Z [Term] id: HP:0011905 name: Reduced hemoglobin A def: "Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia." [HPO:probinson] synonym: "Reduced HbA" EXACT HP:0045077 [] xref: UMLS:C4023138 is_a: HP:0011902 ! Abnormal hemoglobin created_by: peter creation_date: 2012-06-03T05:07:19Z [Term] id: HP:0011906 name: Reduced beta/alpha synthesis ratio def: "A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia." [HPO:probinson, pmid:1060068] xref: UMLS:C4023137 is_a: HP:0005560 ! Imbalanced hemoglobin synthesis created_by: peter creation_date: 2012-06-03T05:41:20Z [Term] id: HP:0011907 name: Reduced alpha/beta synthesis ratio def: "A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia." [HPO:probinson] xref: UMLS:C4023136 is_a: HP:0005560 ! Imbalanced hemoglobin synthesis created_by: peter creation_date: 2012-06-03T05:43:45Z [Term] id: HP:0011908 name: Unilateral radial aplasia def: "Missing radius bone on one side only associated with congenital failure of development." [HPO:probinson] xref: UMLS:C4023135 is_a: HP:0003974 ! Absent radius created_by: peter creation_date: 2012-06-03T06:46:52Z [Term] id: HP:0011909 name: Flattened metacarpal heads def: "Abnormally flat shape of the heads of the metacarpal bones." [HPO:probinson] comment: The metacarpal heads articulate with the proximal phalanges of the fingers. synonym: "Flattened head of long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023134 is_a: HP:0005916 ! Abnormal metacarpal morphology created_by: peter creation_date: 2012-06-03T10:23:40Z [Term] id: HP:0011910 name: Shortening of all phalanges of fingers def: "Abnormal reduction in length affecting all phalanges." [HPO:probinson] synonym: "Shortening of all finger bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023133 is_a: HP:0009803 ! Short phalanx of finger created_by: peter creation_date: 2012-06-03T10:50:44Z [Term] id: HP:0011911 name: Abnormality of metacarpophalangeal joint def: "An anomaly of a metacarpophalangeal joint." [HPO:probinson] synonym: "Abnormality of the knuckle" EXACT layperson [] xref: UMLS:C4023132 is_a: HP:0001163 ! Abnormality of the metacarpal bones created_by: peter creation_date: 2012-06-03T11:03:36Z [Term] id: HP:0011912 name: Abnormality of the glenoid fossa def: "An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus." [HPO:probinson] xref: UMLS:C4023131 is_a: HP:0000782 ! Abnormality of the scapula is_a: HP:0003043 ! Abnormality of the shoulder created_by: peter creation_date: 2012-06-05T08:51:23Z [Term] id: HP:0011913 name: Lumbar hypertrichosis def: "Excessive, increased hair growth located in the lumbar region." [HPO:probinson] xref: UMLS:C4023130 is_a: HP:0000998 ! Hypertrichosis created_by: peter creation_date: 2012-06-05T10:13:10Z [Term] id: HP:0011914 name: Thoracic hypertrichosis def: "Excessive, increased hair growth located in the thoracic region." [HPO:probinson] xref: UMLS:C4023129 is_a: HP:0000998 ! Hypertrichosis created_by: peter creation_date: 2012-06-05T10:13:14Z [Term] id: HP:0011915 name: Cardiovascular calcification def: "Abnormal calcification in the cardiovascular system." [HPO:probinson] xref: UMLS:C4023128 is_a: HP:0010766 ! Ectopic calcification is_a: HP:0030680 ! Abnormality of cardiovascular system morphology created_by: peter creation_date: 2012-06-05T10:35:58Z [Term] id: HP:0011916 name: Toe extensor amyotrophy def: "Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes." [HPO:probinson] xref: UMLS:C4023127 is_a: HP:0001436 ! Abnormality of the foot musculature created_by: peter creation_date: 2012-06-08T06:59:44Z [Term] id: HP:0011917 name: Short 5th toe def: "Underdevelopment (hypoplasia) of the fifth toe." [HPO:probinson] synonym: "Short fifth toe" EXACT [] synonym: "Short little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021111 is_a: HP:0001831 ! Short toe created_by: peter creation_date: 2012-06-08T08:25:00Z [Term] id: HP:0011918 name: Clinodactyly of the 4th toe def: "Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe)." [HPO:probinson] synonym: "4th toe clinodactyly" RELATED [] synonym: "Curvature of 4th toe" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4020740 is_a: HP:0001863 ! Toe clinodactyly is_a: HP:0010338 ! Deviation of the 4th toe created_by: peter creation_date: 2012-06-08T08:44:27Z [Term] id: HP:0011919 name: Pleural empyema def: "Accumulation of pus in the pleural cavity." [HPO:probinson] synonym: "Pyothorax" EXACT [] xref: MSH:D016724 xref: SNOMEDCT_US:405950009 xref: SNOMEDCT_US:405951008 xref: SNOMEDCT_US:58554001 xref: UMLS:C0014013 is_a: HP:0002202 ! Pleural effusion created_by: peter creation_date: 2012-06-08T07:13:41Z [Term] id: HP:0011920 name: Transudative pleural effusion def: "A type of pleural effusion with a transudate (extravascular fluid with low protein content and a low specific gravity). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH." [DDD:tkuijpers, HPO:probinson, pmid:16623208] comment: Transudates result from imbalances in hydrostatic and oncotic forces and are caused by a limited number of recognized clinical conditions such as heart failure and cirrhosis. Less common causes include nephrotic syndrome, atelectasis, peritoneal dialysis, constrictive pericarditis, superior vena caval obstruction, and urinothorax. xref: MSH:D006876 xref: SNOMEDCT_US:79231000 xref: UMLS:C0020312 is_a: HP:0002202 ! Pleural effusion created_by: peter creation_date: 2012-06-08T07:31:00Z [Term] id: HP:0011921 name: Exudative pleural effusion def: "A type of pleural effusion with a exudate (extravascular fluid that has exuded out of a tissue or its capillaries due to injury or inflammation). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH." [DDD:tkuijpers, HPO:probinson, pmid:16623208] comment: Transudates result from pneumonia, malignancy, thromboembolism, and other causes. xref: SNOMEDCT_US:13841000119107 xref: UMLS:C3887491 is_a: HP:0002202 ! Pleural effusion created_by: peter creation_date: 2012-06-08T07:35:47Z [Term] id: HP:0011922 name: Abnormal activity of mitochondrial respiratory chain def: "An increased or decreased activity of the mitochondrial respiratory chain." [HPO:probinson] xref: UMLS:C4023126 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism created_by: peter creation_date: 2012-06-08T08:57:44Z [Term] id: HP:0011923 name: Decreased activity of mitochondrial complex I def: "A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria." [HPO:probinson] synonym: "Respiratory complex I deficiency" RELATED [] xref: UMLS:C2677650 xref: UMLS:C4020739 is_a: HP:0008972 ! Decreased activity of mitochondrial respiratory chain created_by: peter creation_date: 2012-06-08T09:02:29Z [Term] id: HP:0011924 name: Decreased activity of mitochondrial complex III def: "A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria." [HPO:probinson] synonym: "Respiratory complex III deficiency" RELATED [] xref: UMLS:C3149083 xref: UMLS:C4020738 is_a: HP:0008972 ! Decreased activity of mitochondrial respiratory chain created_by: peter creation_date: 2012-06-08T09:04:26Z [Term] id: HP:0011925 name: Decreased activity of mitochondrial ATP synthase complex def: "A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain." [HPO:probinson] synonym: "Respiratory complex deficiency, ATPase deficiency" RELATED [] xref: UMLS:C4020737 xref: UMLS:C4023125 is_a: HP:0008972 ! Decreased activity of mitochondrial respiratory chain created_by: peter creation_date: 2012-06-08T09:08:42Z [Term] id: HP:0011926 name: Proximal placement of hallux def: "Proximal mislocalization of the big toe from its normal position." [HPO:probinson] comment: Thumb placement index greater than 0.55; or, the base of the thumb appears closer to the wrist than is typical. The technique for the thumb placement index is described in detail [Malina et al., 1973; Hall et al., 2007]. Briefly, the thumb placement index is the distance from the proximal crease of the index finger to the angle of the first interdigital space divided by the distance from the proximal crease of the index finger to the wrist flexion crease at the base of the thumb. This term should not be used with Preaxial polydactyly. synonym: "Proximal placement of big toe" EXACT [] synonym: "Proximally placed halluces" EXACT HP:0045078 [] xref: UMLS:C4021110 is_a: HP:0010051 ! Deviation of the hallux created_by: peter creation_date: 2012-06-09T03:29:59Z [Term] id: HP:0011927 name: Short digit def: "One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened." [HPO:probinson] comment: Note that the term brachydactyly is reserved for specific patterns of short digits, see HP:0001156. synonym: "Short digit" EXACT layperson [] synonym: "Very short digits" RELATED layperson [HPO:skoehler] xref: UMLS:C1860176 xref: UMLS:C4023124 is_a: HP:0011297 ! Abnormal digit morphology created_by: peter creation_date: 2012-06-10T09:18:42Z [Term] id: HP:0011928 name: Short proximal phalanx of toe def: "Developmental hypoplasia (shortening) of proximal phalanx of toe." [HPO:probinson] synonym: "Short innermost toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023123 is_a: HP:0001831 ! Short toe is_a: HP:0010184 ! Abnormality of toe proximal phalanx created_by: peter creation_date: 2012-06-10T10:06:30Z [Term] id: HP:0011929 name: Hypersegmentation of proximal phalanx of third finger def: "Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger." [HPO:probinson] comment: This anomaly is characteristic for brachydactyly type C. xref: UMLS:C4023122 is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger created_by: peter creation_date: 2012-06-10T10:49:28Z [Term] id: HP:0011930 name: Hyperextensible skin of chest synonym: "Hyperelastic chest skin" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Stretchable chest skin" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021836 is_a: HP:0007458 ! Focal hyperextensible skin created_by: peter creation_date: 2012-06-10T11:37:14Z [Term] id: HP:0011931 name: Abnormality of the cerebellar peduncle def: "An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum." [HPO:probinson] xref: UMLS:C4023121 is_a: HP:0002438 ! Cerebellar malformation is_a: HP:0012501 ! Abnormality of the brainstem white matter created_by: peter creation_date: 2012-06-10T01:02:57Z [Term] id: HP:0011932 name: Abnormality of the superior cerebellar peduncle def: "An anomaly of the superior cerebellar peduncle." [HPO:probinson] xref: UMLS:C4023120 is_a: HP:0007361 ! Abnormality of the pons is_a: HP:0011931 ! Abnormality of the cerebellar peduncle created_by: peter creation_date: 2012-06-10T01:26:47Z [Term] id: HP:0011933 name: Elongated superior cerebellar peduncle def: "Increased length of the superior cerebellar peduncle." [HPO:probinson] synonym: "Elongated superior cerebellar peduncles" RELATED [HPO:skoehler] synonym: "Long cerebellar peduncle" EXACT [HPO:skoehler] synonym: "Long cerebellar peduncles" EXACT [] xref: UMLS:C3810214 xref: UMLS:C4021109 is_a: HP:0011932 ! Abnormality of the superior cerebellar peduncle created_by: peter creation_date: 2012-06-10T01:31:13Z [Term] id: HP:0011934 name: Dilatation of mesenteric artery def: "Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery ." [HPO:probinson] comment: Aneurysm is considered a severe form of dilatation. synonym: "Mesenteric artery aneurysm" NARROW [] xref: UMLS:C4023119 is_a: HP:0002636 ! Dilatation of an abdominal artery created_by: peter creation_date: 2012-06-10T01:48:30Z [Term] id: HP:0011935 name: Decreased urinary urate def: "Decreased concentration of urate in the urine." [HPO:probinson] comment: Xanthine oxidase oxidizes oxypurines such as xanthine and hypoxanthine to uric acid. Uric acid is the final oxidation product of purine catabolism. xref: UMLS:C4023118 is_a: HP:0012610 ! Abnormality of urinary uric acid concentration created_by: peter creation_date: 2012-06-10T02:19:49Z [Term] id: HP:0011936 name: Decreased plasma total carnitine def: "A decreased concentration of total carnitine in the blood." [HPO:probinson] synonym: "Decreased plasma total carnitine" EXACT layperson [] xref: UMLS:C4023117 is_a: HP:0003234 ! Decreased plasma carnitine created_by: peter creation_date: 2012-06-10T04:20:17Z [Term] id: HP:0011937 name: Hypoplastic fifth toenail def: "Underdeveloped nails of the fifth toes." [HPO:probinson] synonym: "Small fifth toenail" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Underdeveloped fifth toenail" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023116 is_a: HP:0001800 ! Hypoplastic toenails created_by: peter creation_date: 2012-06-10T04:27:42Z [Term] id: HP:0011939 name: 3-4 finger cutaneous syndactyly def: "A soft tissue continuity in the A/P axis between fingers 3 and 4." [HPO:probinson] synonym: "Webbed 3rd-4th finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023115 is_a: HP:0010554 ! Cutaneous finger syndactyly created_by: peter creation_date: 2012-06-10T05:13:51Z [Term] id: HP:0011940 name: Anterior wedging of T12 def: "An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front)." [HPO:probinson] synonym: "Anterior wedging of the 12th thoracic vertebra" EXACT [] synonym: "Wedge-shaped 12th thoracic vertebra" EXACT [] xref: UMLS:C4021108 is_a: HP:0008422 ! Vertebral wedging created_by: peter creation_date: 2012-06-10T06:07:54Z [Term] id: HP:0011941 name: Anterior wedging of L2 def: "An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front)." [HPO:probinson] xref: UMLS:C4023114 is_a: HP:0008422 ! Vertebral wedging created_by: peter creation_date: 2012-06-10T06:10:08Z [Term] id: HP:0011942 name: Increased urinary sulfite def: "Increased concentration of SO3(2-), i.e., sulfite, in the urine." [HPO:probinson] xref: UMLS:C1848957 is_a: HP:0003110 ! Abnormality of urine homeostasis created_by: peter creation_date: 2012-06-11T07:36:01Z [Term] id: HP:0011943 name: Increased urinary thiosulfate def: "Increased concentration of thiosulfate(2-) in the urine." [HPO:probinson] xref: UMLS:C3148695 is_a: HP:0003110 ! Abnormality of urine homeostasis created_by: peter creation_date: 2012-06-11T07:37:29Z [Term] id: HP:0011944 name: Small vessel vasculitis def: "A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries." [HPO:probinson, pmid:9366584] xref: UMLS:C4023113 is_a: HP:0002633 ! Vasculitis created_by: peter creation_date: 2012-06-11T07:58:21Z [Term] id: HP:0011945 name: Bronchiolitis obliterans organizing pneumonia def: "Bronchiolitis obliterans organizing pneumonia (BOOP) is and interstitial lung abnormalitiy characterized histopathologically by plugs of granulation tissue lying within small airways, alveolar ducts, and alveoli and by chronic inflammatory cell infiltration in alveolar walls. Patients with BOOP generally present with subacute illness, including shortness of breath, fever, malaise, and weight loss." [DDD:tkuijpers, HPO:probinson, pmid:20858818] synonym: "BOOP" EXACT HP:0045077 [] synonym: "Cryptogenic organizing pneumonia" EXACT [] xref: MSH:D018549 xref: SNOMEDCT_US:129458007 xref: UMLS:C0242770 is_a: HP:0006530 ! Interstitial pulmonary abnormality created_by: peter creation_date: 2012-06-18T07:55:41Z [Term] id: HP:0011946 name: Bronchiolitis obliterans def: "Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways." [HPO:probinson] comment: Note that Bronchiolitis obliterans is not to be confused with the similarly named feature Bronchiolitis obliterans organizing pneumonia. synonym: "Constrictive bronchiolitis" EXACT [] synonym: "Obliterative bronchiolitis" EXACT [] xref: MSH:D001989 xref: SNOMEDCT_US:40100001 xref: UMLS:C0006272 xref: UMLS:C2350875 is_a: HP:0006530 ! Interstitial pulmonary abnormality created_by: peter creation_date: 2012-06-21T08:20:58Z [Term] id: HP:0011947 name: Respiratory tract infection def: "An infection of the upper or lower respiratory tract." [HPO:probinson] synonym: "Respiratory infection" EXACT layperson [] synonym: "Respiratory infections" RELATED layperson [HPO:skoehler] synonym: "Respiratory tract infection" EXACT layperson [] xref: MSH:D012141 xref: SNOMEDCT_US:275498002 xref: UMLS:C0035243 is_a: HP:0002088 ! Abnormal lung morphology created_by: peter creation_date: 2012-06-21T08:26:36Z [Term] id: HP:0011948 name: Recurrent acute respiratory tract infection def: "A history of repeated acute infections of the upper or lower respiratory tract." [DDD:tkuijpers] synonym: "Acute respiratory tract infection" EXACT layperson [] xref: UMLS:C1442786 is_a: HP:0002205 ! Recurrent respiratory infections created_by: peter creation_date: 2012-06-21T08:30:15Z [Term] id: HP:0011949 name: Acute infectious pneumonia def: "Acute inflammation of the lung due to an infection." [DDD:tkuijpers] xref: UMLS:C4023112 is_a: HP:0011948 ! Recurrent acute respiratory tract infection created_by: peter creation_date: 2012-06-21T08:33:30Z [Term] id: HP:0011950 name: Bronchiolitis def: "Inflammation of the bronchioles." [DDD:tkuijpers] xref: MSH:D001988 xref: SNOMEDCT_US:4120002 xref: UMLS:C0006271 is_a: HP:0011948 ! Recurrent acute respiratory tract infection created_by: peter creation_date: 2012-06-21T08:36:11Z [Term] id: HP:0011951 name: Aspiration pneumonia def: "Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract." [HPO:probinson] xref: MSH:D011015 xref: SNOMEDCT_US:422588002 xref: UMLS:C0032290 is_a: HP:0002090 ! Pneumonia created_by: peter creation_date: 2012-06-21T08:40:03Z [Term] id: HP:0011952 name: Acute aspiration pneumonia def: "An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract." [HPO:probinson] xref: SNOMEDCT_US:35031000119100 xref: UMLS:C4023111 is_a: HP:0011951 ! Aspiration pneumonia created_by: peter creation_date: 2012-06-21T08:42:03Z [Term] id: HP:0011953 name: Pulmonary lymphoma def: "Lung parenchymal involvement with lymphoma." [DDD:tkuijpers] xref: UMLS:C0519063 is_a: HP:0002665 ! Lymphoma is_a: HP:0100526 ! Neoplasm of the lung created_by: peter creation_date: 2012-06-21T08:45:48Z [Term] id: HP:0011954 name: Nodular regenerative hyperplasia of liver def: "Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis." [pmid:21472097] synonym: "Nodular transformation of liver" EXACT [] synonym: "Noncirrhotic nodulation" EXACT [] synonym: "Partial nodular transformation of liver" EXACT [] xref: SNOMEDCT_US:65860006 xref: SNOMEDCT_US:715140008 xref: UMLS:C1318485 is_a: HP:0410042 ! Abnormal liver morphology created_by: peter creation_date: 2012-06-21T09:06:10Z [Term] id: HP:0011955 name: Hepatic granulomatosis def: "The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes." [HPO:probinson] xref: UMLS:C4023110 is_a: HP:0002955 ! Granulomatosis is_a: HP:0410042 ! Abnormal liver morphology created_by: peter creation_date: 2012-06-21T09:11:32Z [Term] id: HP:0011956 name: Intestinal lymphoid nodular hyperplasia def: "A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine." [HPO:probinson, pmid:21481240] xref: UMLS:C4023109 is_a: HP:0002242 ! Abnormal intestine morphology created_by: peter creation_date: 2012-06-21T09:27:07Z [Term] id: HP:0011957 name: Abnormal pectoral muscle morphology def: "An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major." [HPO:probinson] synonym: "Abnormal pec muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023108 is_a: HP:0009131 ! Abnormality of the musculature of the thorax created_by: peter creation_date: 2012-06-22T08:06:04Z [Term] id: HP:0011958 name: Retinal perforation def: "A small hole through the whole thickness of the retina." [HPO:probinson] comment: Retinal perforations can be cause by inflammation, trauma, degeneration, or other factors, and comprise retinal breaks, tears, dialyses, and holes. synonym: "Retinal tear" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Torn retina" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D012167 xref: SNOMEDCT_US:232003005 xref: SNOMEDCT_US:302888003 xref: SNOMEDCT_US:40024006 xref: SNOMEDCT_US:95690009 xref: UMLS:C0035321 is_a: HP:0000479 ! Abnormal retinal morphology created_by: hecht creation_date: 2012-07-07T11:24:39Z [Term] id: HP:0011959 name: Unilateral hypoplasia of pectoralis major muscle def: "Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest." [HPO:probinson] synonym: "Small pec muscle on one side" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Underdeveloped pec muscle on one side" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023107 is_a: HP:0011957 ! Abnormal pectoral muscle morphology created_by: peter creation_date: 2012-06-22T08:13:12Z [Term] id: HP:0011960 name: Substantia nigra gliosis def: "Focal proliferation of glial cells in the substantia nigra." [HPO:probinson] xref: UMLS:C1846865 is_a: HP:0002171 ! Gliosis is_a: HP:0045007 ! Abnormality of the substantia nigra created_by: peter creation_date: 2012-07-16T11:50:42Z [Term] id: HP:0011961 name: Non-obstructive azoospermia def: "Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy." [HPO:probinson, pmid:20514278] synonym: "Testicular azoospermia" EXACT [] xref: UMLS:C4021107 is_a: HP:0000027 ! Azoospermia created_by: peter creation_date: 2012-07-16T12:22:54Z [Term] id: HP:0011962 name: Obstructive azoospermia def: "Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy." [HPO:probinson, pmid:20514278] xref: UMLS:C4023106 is_a: HP:0000027 ! Azoospermia created_by: peter creation_date: 2012-07-16T12:25:35Z [Term] id: HP:0011963 name: Pretesticular azoospermia def: "Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels." [HPO:probinson, pmid:20514278] xref: UMLS:C4023105 is_a: HP:0000027 ! Azoospermia created_by: peter creation_date: 2012-07-16T12:28:55Z [Term] id: HP:0011964 name: Intermittent painful muscle spasms def: "History of repeated intermittent involuntary muscle contractions that were painful." [HPO:probinson] xref: UMLS:C4023104 is_a: HP:0003394 ! Muscle spasm created_by: peter creation_date: 2012-07-16T01:17:16Z [Term] id: HP:0011965 name: Abnormal circulating citrulline concentration def: "Any deviation from the normal concentration of citrulline in the blood circulation." [HPO:probinson] comment: Citrulline is an alpha-amino acid that is a key intermediate in the urea cycle. xref: UMLS:C4023103 is_a: HP:0003112 ! Abnormality of serum amino acid level created_by: peter creation_date: 2012-07-18T08:21:59Z [Term] id: HP:0011966 name: Elevated plasma citrulline def: "An increased concentration of citrulline in the blood." [HPO:probinson] xref: UMLS:C4023102 is_a: HP:0011965 ! Abnormal circulating citrulline concentration created_by: peter creation_date: 2012-07-18T08:23:22Z [Term] id: HP:0011967 name: Decreased circulating copper concentration def: "A reduced concentration of copper in the blood." [HPO:probinson] synonym: "Copper deficiency" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hypocupremia" EXACT [] synonym: "Reduced serum copper" EXACT [] xref: SNOMEDCT_US:19577007 xref: UMLS:C0268070 is_a: HP:0010836 ! Abnormal circulating copper concentration created_by: peter creation_date: 2012-07-18T08:29:13Z [Term] id: HP:0011968 name: Feeding difficulties def: "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] subset: hposlim_core synonym: "Feeding difficulties" EXACT layperson [] synonym: "Feeding problems" EXACT layperson [] synonym: "Poor feeding" EXACT layperson [] xref: SNOMEDCT_US:78164000 xref: UMLS:C0232466 is_a: HP:0011458 ! Abdominal symptom created_by: peter creation_date: 2012-07-18T10:25:05Z [Term] id: HP:0011969 name: Elevated circulating luteinizing hormone level alt_id: HP:0030343 def: "An elevated concentration of luteinizing hormone in the blood." [HPO:probinson] synonym: "Elevated LH level" EXACT HP:0045077 [] synonym: "Elevated luteinizing hormone" EXACT [] synonym: "Increased circulating luteinizing hormone level" EXACT [] xref: UMLS:C4023101 is_a: HP:0000837 ! Increased circulating gonadotropin level is_a: HP:0030345 ! Abnormal circulating luteinizing hormone level created_by: peter creation_date: 2012-07-18T08:36:09Z [Term] id: HP:0011970 name: Cerebral amyloid angiopathy def: "Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system." [HPO:probinson, pmid:21519520] comment: Vascular beta-amyloid deposition in the walls of small to medium-sized, blood vessels (mostly arterial) of the central nervous system. Cerebral amyloid angiopathy mostly occurs in the sporadic form in the elderly, while rare familial forms occur in younger patients and are generally lead to more severe clinical manifestations. Extracellular deposition of the amyloid protein in the brain is associated with neurologic and physiological disease progression. xref: MSH:D016657 xref: SNOMEDCT_US:230724001 xref: UMLS:C0085220 is_a: HP:0011034 ! Amyloidosis created_by: peter creation_date: 2012-07-18T08:39:48Z [Term] id: HP:0011971 name: Dermatographic urticaria def: "An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor)." [HPO:probinson] synonym: "Dermatographism" EXACT [] synonym: "Dermographism" EXACT [] xref: SNOMEDCT_US:402410006 xref: SNOMEDCT_US:402601007 xref: SNOMEDCT_US:7632005 xref: UMLS:C0343065 is_a: HP:0410134 ! Physical urticaria created_by: peter creation_date: 2012-07-18T08:42:25Z [Term] id: HP:0011972 name: Hypoglycorrhachia def: "Abnormally low glucose concentration in the cerebrospinal fluid." [HPO:probinson] synonym: "Decreased CSF glucose" EXACT [] synonym: "Increased CSF glucose" EXACT [] synonym: "Low glucose levels in cerebral spinal fluid" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C0598121 is_a: HP:0031884 ! Abnormal CSF glucose level created_by: peter creation_date: 2012-07-18T08:45:55Z [Term] id: HP:0011973 name: Paroxysmal lethargy def: "Repeated episodes of sudden-onset and transient lethargy." [HPO:probinson] xref: UMLS:C1847507 is_a: HP:0001254 ! Lethargy created_by: peter creation_date: 2012-07-18T08:48:06Z [Term] id: HP:0011974 name: Myelofibrosis def: "Replacement of bone marrow by fibrous tissue." [HPO:probinson] xref: SNOMEDCT_US:52967002 xref: UMLS:C0026987 is_a: HP:0012145 ! Abnormality of multiple cell lineages in the bone marrow created_by: peter creation_date: 2012-07-18T08:51:57Z [Term] id: HP:0011975 name: Aminoglycoside-induced hearing loss def: "Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics." [HPO:probinson, pmid:2669624] comment: The ototoxicity of aminoglycoside antibiotics is related to the destruction of sensory hair cells in the cochlea and vestibular labyrinth. xref: UMLS:C4023100 is_a: HP:0000365 ! Hearing impairment created_by: peter creation_date: 2012-07-18T08:55:03Z [Term] id: HP:0011976 name: Elevated urinary catecholamines def: "An increased concentration of catecholamine in the urine." [HPO:probinson] synonym: "Elevated urinary catecholamines" EXACT layperson [] xref: UMLS:C0241577 is_a: HP:0011281 ! Abnormality of urine catecholamine concentration created_by: peter creation_date: 2012-07-18T09:07:22Z [Term] id: HP:0011977 name: Elevated urinary homovanillic acid def: "An increased concentration of homovanillic acid in the urine." [HPO:probinson] synonym: "Increased urinary homovanillic acid" RELATED [] xref: UMLS:C4020736 is_a: HP:0040156 ! Elevated urinary carboxylic acid created_by: peter creation_date: 2012-07-18T09:10:06Z [Term] id: HP:0011978 name: Elevated urinary vanillylmandelic acid def: "An increased concentration of vanillylmandelic acid in the urine." [HPO:probinson] synonym: "Increased urinary vanillylmandelic acid" RELATED [] xref: UMLS:C4020735 is_a: HP:0040156 ! Elevated urinary carboxylic acid created_by: peter creation_date: 2012-07-18T09:11:52Z [Term] id: HP:0011979 name: Elevated urinary dopamine def: "An increased concentration of dopamine in the urine." [HPO:probinson] synonym: "Elevated urinary dopamine" EXACT layperson [] xref: UMLS:C4023099 is_a: HP:0011976 ! Elevated urinary catecholamines created_by: peter creation_date: 2012-07-18T09:13:16Z [Term] id: HP:0011980 name: Cholesterol gallstones def: "Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color." [HPO:probinson, pmid:12950109, pmid:16844493] xref: UMLS:C0856727 is_a: HP:0001081 ! Cholelithiasis created_by: peter creation_date: 2012-07-18T09:16:15Z [Term] id: HP:0011981 name: Pigment gallstones def: "Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration." [HPO:probinson, pmid:12950109] xref: UMLS:C3278865 is_a: HP:0001081 ! Cholelithiasis created_by: peter creation_date: 2012-07-18T09:18:44Z [Term] id: HP:0011982 name: Black pigment gallstones def: "A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates." [HPO:probinson, pmid:12950109] xref: UMLS:C4023098 is_a: HP:0011981 ! Pigment gallstones created_by: peter creation_date: 2012-07-18T09:25:05Z [Term] id: HP:0011983 name: Brown pigment gallstones def: "A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones." [HPO:probinson, pmid:12950109] xref: UMLS:C4023097 is_a: HP:0011981 ! Pigment gallstones created_by: peter creation_date: 2012-07-18T09:26:55Z [Term] id: HP:0011984 name: Atretic gallbladder def: "Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia." [HPO:probinson] synonym: "Gallbladder atresia" EXACT [] xref: UMLS:C3277945 is_a: HP:0011466 ! Aplasia/Hypoplasia of the gallbladder created_by: peter creation_date: 2012-07-19T10:26:35Z [Term] id: HP:0011985 name: Acholic stools alt_id: HP:0200112 def: "Clay colored stools lacking bile pigment." [HPO:probinson] synonym: "Acholia" EXACT [] synonym: "Clay colored stools" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Discolored, acholic stools" EXACT [] xref: SNOMEDCT_US:70396004 xref: UMLS:C2675627 is_a: HP:0001396 ! Cholestasis created_by: peter creation_date: 2012-07-19T10:31:22Z [Term] id: HP:0011986 name: Ectopic ossification def: "Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist." [HPO:probinson] synonym: "Ectopic bone formation" EXACT [] synonym: "Heterotopic ossification" EXACT [] xref: MEDDRA:10065453 "Ectopic ossification" xref: MSH:D009999 xref: SNOMEDCT_US:128491006 xref: UMLS:C0029396 is_a: HP:0011849 ! Abnormal bone ossification created_by: peter creation_date: 2012-07-19T10:38:25Z [Term] id: HP:0011987 name: Ectopic ossification in muscle tissue def: "Formation of abnormal bony tissue within muscle tissue." [HPO:probinson] synonym: "Calcification of muscle tissue" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023096 is_a: HP:0011986 ! Ectopic ossification created_by: peter creation_date: 2012-07-19T10:46:03Z [Term] id: HP:0011988 name: Ectopic ossification in tendon tissue def: "Formation of abnormal bony tissue within tendon tissue." [HPO:probinson] xref: UMLS:C4023095 is_a: HP:0011986 ! Ectopic ossification created_by: peter creation_date: 2012-07-19T10:47:01Z [Term] id: HP:0011989 name: Ectopic ossification in ligament tissue def: "Formation of abnormal bony tissue within ligament tissue." [HPO:probinson] xref: UMLS:C4023094 is_a: HP:0011986 ! Ectopic ossification created_by: peter creation_date: 2012-07-19T10:48:31Z [Term] id: HP:0011990 name: Abnormality of neutrophil physiology def: "A functional abnormality of neutrophils." [HPO:probinson] xref: UMLS:C4023093 is_a: HP:0001874 ! Abnormality of neutrophils created_by: peter creation_date: 2012-07-19T10:56:37Z [Term] id: HP:0011991 name: Abnormal neutrophil count def: "A deviation from the normal range of neutrophil cell counts in the circulation." [HPO:probinson] synonym: "Abnormal neutrophil cell number" EXACT [] xref: UMLS:C4023092 is_a: HP:0001874 ! Abnormality of neutrophils is_a: HP:0032309 ! Abnormal granulocyte count created_by: peter creation_date: 2012-07-19T10:59:14Z [Term] id: HP:0011992 name: Abnormality of neutrophil morphology def: "An abnormal form or size of neutrophils." [HPO:probinson] xref: UMLS:C4023091 is_a: HP:0001874 ! Abnormality of neutrophils created_by: peter creation_date: 2012-07-19T11:00:27Z [Term] id: HP:0011993 name: Impaired neutrophil bactericidal activity def: "A reduction in the ability of neutrophils to kill bacteria." [HPO:probinson] xref: UMLS:C4023090 is_a: HP:0011990 ! Abnormality of neutrophil physiology created_by: peter creation_date: 2012-07-19T11:01:32Z [Term] id: HP:0011994 name: Abnormal atrial septum morphology def: "An abnormality of the interatrial septum." [HPO:probinson] synonym: "Abnormal interatrial septum morphology" EXACT [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the atrial septum" EXACT [] xref: Fyler:2002 xref: SNOMEDCT_US:253363004 xref: UMLS:C0344722 is_a: HP:0001671 ! Abnormal cardiac septum morphology created_by: peter creation_date: 2012-07-19T11:34:27Z [Term] id: HP:0011995 name: Atrial septal dilatation def: "A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography." [HPO:probinson, pmid:7758185] comment: Atrial septal aneurysm formation may be secondary to raised interatrial pressure gradients, producing a bulging septal shift toward the low-pressure side. However, it has been also found in patients with normal atrial pressures, suggesting a primary (congenital) malformation. synonym: "Atrial septal aneurysm" NARROW [] xref: SNOMEDCT_US:95440004 xref: UMLS:C0521533 is_a: HP:0011994 ! Abnormal atrial septum morphology created_by: peter creation_date: 2012-07-19T11:35:07Z [Term] id: HP:0011996 name: Elevated coagulation factor V activity def: "Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex." [HPO:probinson] synonym: "Elevated factor V activity" EXACT [] synonym: "Plasma factor V elevated" EXACT [] xref: UMLS:C4021106 is_a: HP:0031899 ! Abnormal coagulation factor V activity created_by: peter creation_date: 2012-07-19T11:40:31Z [Term] id: HP:0011997 name: Postprandial hyperlactemia def: "Abnormally increased level of blood lactate following a meal." [HPO:probinson] xref: UMLS:C4023089 is_a: HP:0002151 ! Increased serum lactate created_by: peter creation_date: 2012-07-19T12:06:39Z [Term] id: HP:0011998 name: Postprandial hyperglycemia def: "An increased concentration of glucose in the blood following a meal." [HPO:probinson] xref: MSH:D006943 xref: UMLS:C1855520 is_a: HP:0003074 ! Hyperglycemia created_by: peter creation_date: 2012-07-19T12:07:59Z [Term] id: HP:0011999 name: Paranoia def: "A persecutory delusion of supposed hostility of others." [HPO:probinson] synonym: "Paranoia" EXACT layperson [] xref: MSH:D010259 xref: SNOMEDCT_US:191667009 xref: UMLS:C1456784 is_a: HP:0000746 ! Delusions created_by: peter creation_date: 2012-07-19T01:00:23Z [Term] id: HP:0012000 name: EEG with generalized spikes def: "EEG with generalized sharp transient waves of a duration less than 80 msec." [HPO:jalbers] xref: UMLS:C2206531 is_a: HP:0011198 ! EEG with generalized epileptiform discharges created_by: hecht creation_date: 2012-07-20T11:39:52Z [Term] id: HP:0012001 name: EEG with generalized polyspikes def: "EEG with repetitive generalized sharp transient waves of a duration less than 80 msec." [HPO:jalbers] xref: UMLS:C4023088 is_a: HP:0011198 ! EEG with generalized epileptiform discharges created_by: hecht creation_date: 2012-07-20T11:41:07Z [Term] id: HP:0012002 name: Experiential auras def: "Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context." [HPO:probinson] comment: See the Glossary of Descriptive Terminology for Ictal Semiology at http://www.ilae.org. xref: UMLS:C4023087 is_a: HP:0011157 ! Focal sensory seizure created_by: hecht creation_date: 2012-07-20T11:50:13Z [Term] id: HP:0012003 name: Affective auras def: "Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context." [HPO:probinson] comment: See the Glossary of Descriptive Terminology for Ictal Semiology at http://www.ilae.org. xref: UMLS:C4023086 is_a: HP:0012002 ! Experiential auras created_by: hecht creation_date: 2012-07-20T11:52:11Z [Term] id: HP:0012004 name: Mnemonic auras def: "Auras which reflect ictal dysmnesia such as: feelings as familiarity (deja-vu) and unfamiliarity (jamais-vu)." [HPO:probinson] comment: See the Glossary of Descriptive Terminology for Ictal Semiology at http://www.ilae.org. xref: UMLS:C4023085 is_a: HP:0012002 ! Experiential auras created_by: hecht creation_date: 2012-07-20T11:53:39Z [Term] id: HP:0012005 name: Deja vu def: "A subjective feeling that an experience which is occurring for the first time has been experienced before." [HPO:probinson] synonym: "Deja vu" EXACT layperson [] xref: MSH:D003690 xref: SNOMEDCT_US:313005 xref: UMLS:C0011194 is_a: HP:0012004 ! Mnemonic auras created_by: hecht creation_date: 2012-07-20T11:54:16Z [Term] id: HP:0012006 name: Jamais vu def: "A subjective feeling that an experience which has occurred before is being experienced for the first time." [HPO:probinson] xref: SNOMEDCT_US:28249008 xref: UMLS:C0233803 is_a: HP:0012004 ! Mnemonic auras created_by: hecht creation_date: 2012-07-20T11:55:38Z [Term] id: HP:0012007 name: Hallucinatory auras def: "Auras with creation of composite perceptions without corresponding external stimuli involving visual, auditory, somatosensory, olfactory and/or gustatory phenomena." [HPO:probinson] comment: See the Glossary of Descriptive Terminology for Ictal Semiology at http://www.ilae.org. xref: UMLS:C4023084 is_a: HP:0012002 ! Experiential auras created_by: hecht creation_date: 2012-07-20T11:56:47Z [Term] id: HP:0012008 name: Illusory auras def: "Auras with an alteration of actual percepts involving the visual, auditory, somatosensory, olfactory or gustatory systems." [HPO:probinson] comment: See the Glossary of Descriptive Terminology for Ictal Semiology at http://www.ilae.org. xref: UMLS:C4023083 is_a: HP:0012002 ! Experiential auras created_by: hecht creation_date: 2012-07-20T11:57:32Z [Term] id: HP:0012009 name: EEG with central focal spike waves def: "EEG with focal sharp transient waves in the central region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave." [HPO:jalbers] xref: UMLS:C4023082 is_a: HP:0011197 ! EEG with focal spike waves created_by: hecht creation_date: 2012-07-20T11:58:18Z [Term] id: HP:0012010 name: EEG with frontal focal spike waves def: "EEG with focal sharp transient waves in the frontal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave." [HPO:jalbers] xref: UMLS:C4023081 is_a: HP:0011197 ! EEG with focal spike waves created_by: hecht creation_date: 2012-07-20T11:59:21Z [Term] id: HP:0012011 name: EEG with occipital focal spike waves def: "EEG with focal sharp transient waves in the occipital region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave." [HPO:jalbers] xref: UMLS:C4023080 is_a: HP:0011197 ! EEG with focal spike waves created_by: hecht creation_date: 2012-07-20T11:59:43Z [Term] id: HP:0012012 name: EEG with parietal focal spike waves def: "EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave." [HPO:jalbers] xref: UMLS:C4023079 is_a: HP:0011197 ! EEG with focal spike waves created_by: hecht creation_date: 2012-07-20T12:00:43Z [Term] id: HP:0012013 name: EEG with temporal focal spike waves def: "EEG with focal sharp transient waves in the temporal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave." [HPO:jalbers] xref: UMLS:C4023078 is_a: HP:0011197 ! EEG with focal spike waves created_by: hecht creation_date: 2012-07-20T12:01:01Z [Term] id: HP:0012014 name: EEG with central focal spikes def: "EEG with focal sharp transient waves of a duration less than 80 msec in the central region." [HPO:jalbers] xref: UMLS:C4023077 is_a: HP:0011193 ! EEG with focal spikes created_by: hecht creation_date: 2012-07-20T12:01:29Z [Term] id: HP:0012015 name: EEG with frontal focal spikes def: "EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region." [HPO:jalbers] xref: UMLS:C4023076 is_a: HP:0011193 ! EEG with focal spikes created_by: hecht creation_date: 2012-07-20T12:02:12Z [Term] id: HP:0012016 name: EEG with occipital focal spikes def: "EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region." [HPO:jalbers] xref: UMLS:C4023075 is_a: HP:0011193 ! EEG with focal spikes created_by: hecht creation_date: 2012-07-20T12:02:28Z [Term] id: HP:0012017 name: EEG with parietal focal spikes def: "EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region." [HPO:jalbers] xref: UMLS:C4023074 is_a: HP:0011193 ! EEG with focal spikes created_by: hecht creation_date: 2012-07-20T12:02:43Z [Term] id: HP:0012018 name: EEG with temporal focal spikes def: "EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region." [HPO:jalbers] xref: UMLS:C4023073 is_a: HP:0011193 ! EEG with focal spikes created_by: hecht creation_date: 2012-07-20T12:02:59Z [Term] id: HP:0012019 name: Lens luxation def: "Complete dislocation of the lens of the eye." [HPO:probinson] synonym: "Dislocated lens" EXACT layperson [ORCID:0000-0002-6548-5200] synonym: "Dislocated lenses" EXACT layperson [] xref: MSH:D007906 xref: UMLS:C0023309 is_a: HP:0001083 ! Ectopia lentis created_by: peter creation_date: 2012-07-26T10:40:02Z [Term] id: HP:0012020 name: Right aortic arch def: "Aorta descends on right instead of on the left." [HPO:probinson] comment: The are several types of right aortic arch (RAA). RAA can recognized radiographically by leftward displacement of barium-filled esophagus or of an air-filled trachea. The aortic knob is absent from left side, and the para-aortic stripe returns to left side of spine just above diaphragm. synonym: "Right-sided aortic arch" EXACT [] xref: Fyler:2720 xref: SNOMEDCT_US:111321007 xref: SNOMEDCT_US:244229003 xref: UMLS:C0035615 is_a: HP:0011587 ! Abnormal branching pattern of the aortic arch created_by: peter creation_date: 2012-07-26T09:25:32Z [Term] id: HP:0012021 name: Persistent patent ductus venosus def: "Persistence of blood flow through the ductus venosus for longer than the normal time after birth." [HPO:probinson, pmid:16449256] comment: The ductus venosus is a bypass between the umbilical vein and the inferior vena cava in the fetus. The blood flow through this bypass decreases immediately after birth. Functional closure, which is followed by anatomic closure, is virtually complete within a few weeks of birth. xref: UMLS:C4023072 is_a: HP:0010948 ! Abnormality of the fetal cardiovascular system created_by: peter creation_date: 2012-07-26T10:10:58Z [Term] id: HP:0012022 name: Congenital portosystemic venous shunt def: "A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver)." [HPO:probinson] xref: MSH:C562830 xref: SNOMEDCT_US:253330006 xref: UMLS:C0344688 is_a: HP:0010948 ! Abnormality of the fetal cardiovascular system created_by: peter creation_date: 2012-07-26T10:16:40Z [Term] id: HP:0012023 name: Galactosuria def: "Elevated concentration of galactose in the urine." [HPO:probinson] synonym: "Increased urinary galactose level" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:71690006 xref: UMLS:C0268157 is_a: HP:0031979 ! Abnormal urine carbohydrate level created_by: peter creation_date: 2012-07-26T10:31:35Z [Term] id: HP:0012024 name: Hypergalactosemia def: "Elevated concentration of galactose in the blood." [HPO:probinson] comment: Hypergalactosemia is used here to mean the increased concentration of galactose in the blood. Note that the word galactosemia is occasionally used with the same meaning but more commonly denotes the disease entity called galactosemia caused by mutations in the galactose-1-phosphate uridyltransferase gene (MIM:230400). synonym: "Galactosemia" RELATED [] xref: MSH:D005693 xref: SNOMEDCT_US:190745006 xref: SNOMEDCT_US:190749000 xref: UMLS:C0016952 xref: UMLS:C4023071 is_a: HP:0011013 ! Abnormal circulating carbohydrate concentration created_by: peter creation_date: 2012-07-26T10:35:58Z [Term] id: HP:0012025 name: Abnormal circulating ornithine concentration def: "Deviation from the normal concentration of ornithine in the blood circulation." [HPO:probinson] comment: Ornithine is an amino acid produced in the urea cycle by the splitting off of urea from arginine. Ornithine is a naturally occurring, non-proteinogenic amino acid found in meat, fish, dairy and eggs. xref: UMLS:C4023070 is_a: HP:0003112 ! Abnormality of serum amino acid level created_by: peter creation_date: 2012-07-26T10:48:59Z [Term] id: HP:0012026 name: Hyperornithinemia def: "Increased concentration of ornithine in the blood." [HPO:probinson] synonym: "High blood ornithine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D015799 xref: SNOMEDCT_US:276426004 xref: SNOMEDCT_US:33985005 xref: UMLS:C0599035 is_a: HP:0012025 ! Abnormal circulating ornithine concentration created_by: peter creation_date: 2012-07-26T10:49:54Z [Term] id: HP:0012027 name: Laryngeal edema def: "An abnormal accumulation of fluid and swelling in the tissues of the larynx." [HPO:probinson] xref: MSH:D007819 xref: SNOMEDCT_US:51599000 xref: UMLS:C0023052 is_a: HP:0000969 ! Edema is_a: HP:0025423 ! Abnormal larynx morphology created_by: peter creation_date: 2012-07-26T10:51:45Z [Term] id: HP:0012028 name: Hepatocellular adenoma def: "A benign tumor of the liver of presumably epithelial origin." [HPO:probinson] synonym: "Hepatic adenoma" EXACT [] synonym: "Liver cell adenoma" EXACT [] xref: MPATH:353 "hepatocellular adenoma" xref: MSH:D018248 xref: SNOMEDCT_US:424263008 xref: SNOMEDCT_US:78058005 xref: UMLS:C0206669 is_a: HP:0002896 ! Neoplasm of the liver created_by: peter creation_date: 2012-07-27T01:24:44Z [Term] id: HP:0012029 name: Abnormal urine hormone level def: "An abnormal concentration of a hormone in the urine." [HPO:probinson] synonym: "Abnormality of urine hormone level" EXACT [] xref: UMLS:C4023069 is_a: HP:0000818 ! Abnormality of the endocrine system created_by: peter creation_date: 2012-07-27T01:29:51Z [Term] id: HP:0012030 name: Increased urinary cortisol level def: "Abnormally increased concentration of cortisol in the urine." [HPO:probinson] synonym: "High urine cortisol level" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023068 is_a: HP:0012029 ! Abnormal urine hormone level created_by: peter creation_date: 2012-07-27T01:30:44Z [Term] id: HP:0012031 name: Lipomatous tumor xref: MPATH:415 "lipomatous tumor" xref: MSH:D018205 xref: SNOMEDCT_US:115227001 xref: SNOMEDCT_US:254827004 xref: SNOMEDCT_US:254831005 xref: UMLS:C0206631 is_a: HP:0200013 ! Neoplasm of fatty tissue created_by: peter creation_date: 2012-07-27T01:32:28Z [Term] id: HP:0012032 name: Lipoma def: "Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous." [MPATH:417] subset: hposlim_core synonym: "Fatty lump" EXACT layperson [] synonym: "Noncancerous fatty lump" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MEDDRA:10024612 "Lipoma" xref: MPATH:417 "lipoma" xref: MSH:D008067 xref: SNOMEDCT_US:46720004 xref: SNOMEDCT_US:93163002 xref: UMLS:C0023798 is_a: HP:0012031 ! Lipomatous tumor created_by: peter creation_date: 2012-07-27T01:33:13Z [Term] id: HP:0012033 name: Sacral lipoma def: "Presence of a lipoma in the region of the sacrum." [HPO:probinson] xref: UMLS:C4021835 is_a: HP:0012032 ! Lipoma created_by: peter creation_date: 2012-07-27T01:37:57Z [Term] id: HP:0012034 name: Liposarcoma def: "Malignant neoplasms which probably originate in primitive mesenchymal stem cell populations differentiating down a lipomatous pathway." [MPATH:418] xref: MPATH:418 "Liposarcoma" xref: MSH:D008080 xref: SNOMEDCT_US:254829001 xref: SNOMEDCT_US:49430005 xref: UMLS:C0023827 is_a: HP:0012031 ! Lipomatous tumor created_by: peter creation_date: 2012-07-27T01:40:25Z [Term] id: HP:0012035 name: Steatocystoma multiplex def: "Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities)." [HPO:probinson, pmid:20631281] comment: Steatocystoma multiplex can present with localized, generalized, facial, acral, or suppurative involvement. xref: MSH:D062685 xref: SNOMEDCT_US:109433009 xref: UMLS:C0259771 is_a: HP:0008069 ! Neoplasm of the skin created_by: peter creation_date: 2012-07-27T01:45:14Z [Term] id: HP:0012036 name: Sternocleidomastoid amyotrophy def: "Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head." [HPO:probinson] xref: UMLS:C4023067 is_a: HP:0003202 ! Skeletal muscle atrophy created_by: peter creation_date: 2012-07-27T01:51:24Z [Term] id: HP:0012037 name: Pectoralis amyotrophy def: "Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor." [HPO:probinson] synonym: "Wasting of pec muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023066 is_a: HP:0003202 ! Skeletal muscle atrophy is_a: HP:0011957 ! Abnormal pectoral muscle morphology created_by: peter creation_date: 2012-07-27T01:55:38Z [Term] id: HP:0012038 name: Corneal guttata def: "Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible." [HPO:probinson, pmid:10611102, pmid:11222329] comment: Corneal guttata are often observed in elderly people and are known to be associated with Fuchs corneal endothelial dystrophy, and also with trauma, congenital glaucoma, and macular dystrophy. synonym: "Corneal endothelial guttata" EXACT [] xref: SNOMEDCT_US:373424008 xref: UMLS:C0271288 is_a: HP:0011490 ! Abnormal Descemet membrane morphology created_by: peter creation_date: 2012-07-27T02:06:24Z [Term] id: HP:0012039 name: Descemet Membrane Folds def: "Presence of folds in the Descemet membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descemet membrane folds are generally a manifestation of inflammation or edema of the cornea." [HPO:probinson] xref: SNOMEDCT_US:193821003 xref: UMLS:C0155116 is_a: HP:0011490 ! Abnormal Descemet membrane morphology created_by: peter creation_date: 2012-07-27T02:14:55Z [Term] id: HP:0012040 name: Corneal stromal edema def: "Abnormal accumulation of fluid and swelling of the stroma of cornea." [HPO:probinson] xref: SNOMEDCT_US:373430008 xref: UMLS:C0474444 is_a: HP:0000969 ! Edema is_a: HP:0011492 ! Abnormality of corneal stroma created_by: peter creation_date: 2012-07-27T02:19:25Z [Term] id: HP:0012041 name: Decreased fertility in males synonym: "Decreased fertility in males" EXACT layperson [] xref: UMLS:C0151640 is_a: HP:0000144 ! Decreased fertility created_by: peter creation_date: 2012-07-30T06:50:19Z [Term] id: HP:0012042 name: Aspirin-induced asthma def: "A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction." [pmid:12743549] synonym: "Aspirin-induced asthma" EXACT layperson [] xref: MSH:D055963 xref: SNOMEDCT_US:407674008 xref: UMLS:C1319853 is_a: HP:0002099 ! Asthma created_by: peter creation_date: 2012-08-01T11:22:04Z [Term] id: HP:0012043 name: Pendular nystagmus def: "Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction." [HPO:probinson] synonym: "Nystagmus, continuous pendular" RELATED [HPO:skoehler] synonym: "Nystagmus, pendular" RELATED [HPO:skoehler] xref: MSH:D009759 xref: SNOMEDCT_US:35743001 xref: UMLS:C0271388 xref: UMLS:C4020734 is_a: HP:0000639 ! Nystagmus created_by: peter creation_date: 2012-08-01T12:04:00Z [Term] id: HP:0012044 name: Seesaw nystagmus def: "Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements." [HPO:probinson] comment: Seesaw nystagmus can be a manifestation of lesions of the optic chiasma. xref: MSH:D009759 xref: SNOMEDCT_US:95782001 xref: UMLS:C0344243 is_a: HP:0012043 ! Pendular nystagmus created_by: peter creation_date: 2012-08-01T12:06:36Z [Term] id: HP:0012045 name: Retinal flecks def: "Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions." [pmid:7952338] xref: SNOMEDCT_US:247138002 xref: UMLS:C0423414 is_a: HP:0030506 ! Yellow/white lesions of the retina created_by: peter creation_date: 2012-08-01T12:17:00Z [Term] id: HP:0012046 name: Areflexia of upper limbs def: "Inability to elicit tendon reflexes in the upper limbs." [HPO:probinson] xref: UMLS:C2674177 is_a: HP:0001284 ! Areflexia is_a: HP:0002817 ! Abnormality of the upper limb created_by: peter creation_date: 2012-08-01T12:24:31Z [Term] id: HP:0012047 name: Hemeralopia def: "A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness." [HPO:probinson] synonym: "Day blindness" EXACT layperson [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] xref: MSH:D014786 xref: SNOMEDCT_US:399323001 xref: UMLS:C0018975 is_a: HP:0000504 ! Abnormality of vision created_by: peter creation_date: 2012-08-01T12:26:28Z [Term] id: HP:0012048 name: Oromandibular dystonia alt_id: HP:0001494 def: "A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech." [HPO:probinson] synonym: "Cranial dystonia" EXACT [] xref: UMLS:C2242577 is_a: HP:0012179 ! Craniofacial dystonia created_by: peter creation_date: 2012-08-01T12:29:50Z [Term] id: HP:0012049 name: Laryngeal dystonia def: "A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech." [HPO:probinson] synonym: "Spasmodic dysphonia" EXACT [] xref: SNOMEDCT_US:3331000119108 xref: UMLS:C1963946 is_a: HP:0001618 ! Dysphonia is_a: HP:0004373 ! Focal dystonia created_by: peter creation_date: 2012-08-01T12:34:41Z [Term] id: HP:0012050 name: Anasarca def: "An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space." [HPO:probinson] synonym: "Extreme generalized edema" EXACT [ORCID:0000-0001-5208-3432] xref: MSH:D004487 xref: SNOMEDCT_US:16740003 xref: SNOMEDCT_US:442433009 xref: UMLS:C0151603 is_a: HP:0007430 ! Generalized edema created_by: peter creation_date: 2012-08-01T12:53:48Z [Term] id: HP:0012051 name: Reactive hypoglycemia def: "Hypoglycermia following a meal (or more generally, after intake of glucose)." [HPO:probinson] comment: Reactive hypoglycemia may be the result of an exaggerated insulin response. synonym: "Low blood sugar after a meal" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Postprandial hypoglycemia" EXACT [] xref: MSH:D007003 xref: SNOMEDCT_US:237638000 xref: SNOMEDCT_US:317006 xref: UMLS:C0271710 is_a: HP:0001943 ! Hypoglycemia created_by: peter creation_date: 2012-08-01T12:57:57Z [Term] id: HP:0012052 name: Low serum calcitriol def: "A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3." [HPO:probinson] synonym: "Low serum 1,25-dihydroxycholecalciferol" EXACT [] synonym: "Low serum 1,25-dihydroxyvitamin D3" EXACT [] xref: UMLS:C4023065 is_a: HP:0100511 ! Abnormality of vitamin D metabolism created_by: peter creation_date: 2012-08-01T01:02:39Z [Term] id: HP:0012053 name: Low serum calcifediol def: "A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3." [HPO:probinson] synonym: "Low serum 25-hydroxycholecalciferol" EXACT [] synonym: "Low serum calcidiol" EXACT [] xref: UMLS:C4023064 is_a: HP:0100511 ! Abnormality of vitamin D metabolism created_by: peter creation_date: 2012-08-01T01:04:42Z [Term] id: HP:0012054 name: Choroidal melanoma def: "Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented)." [HPO:probinson, pmid:22557869] xref: NCIT:C3224 xref: SNOMEDCT_US:255021005 xref: UMLS:C0346388 is_a: HP:0007716 ! Uveal melanoma created_by: peter creation_date: 2012-08-01T01:59:00Z [Term] id: HP:0012055 name: Ciliary body melanoma def: "Malignant tumor of melanocytes of the ciliary body." [HPO:probinson] xref: NCIT:C3224 xref: SNOMEDCT_US:255015006 xref: UMLS:C0346379 is_a: HP:0007716 ! Uveal melanoma is_a: HP:0012776 ! Abnormal ciliary body morphology created_by: peter creation_date: 2012-08-01T02:01:02Z [Term] id: HP:0012056 name: Cutaneous melanoma def: "The presence of a melanoma of the skin." [HPO:probinson] comment: The phenotypic presentation of melanomas is often described using the ABCDE mnemomic: A) Asymmetry; B) Borders of the lesion are irregular; C) Color changes from one area of the lesion to another, with shades of tan, brown, or black, and sometimes white, red, or blue; D) Diameter of the lesionis usually larger than 6 mm; E) Evolution of the appearance of the lesion with time. These rules do not, however, apply to every melanoma. xref: MSH:D008545 xref: NCIT:C3224 xref: SNOMEDCT_US:2092003 xref: SNOMEDCT_US:372244006 xref: UMLS:C0025202 is_a: HP:0002861 ! Melanoma is_a: HP:0008069 ! Neoplasm of the skin created_by: peter creation_date: 2012-08-01T02:04:21Z [Term] id: HP:0012057 name: Superficial spreading melanoma def: "A type of melanoma that is flat and irregular in shape and color, with different shades of black and brown." [HPO:probinson] xref: SNOMEDCT_US:254730000 xref: SNOMEDCT_US:55320002 xref: UMLS:C0334438 is_a: HP:0012056 ! Cutaneous melanoma created_by: peter creation_date: 2012-08-01T02:07:52Z [Term] id: HP:0012058 name: Nodular melanoma def: "A type of melanoma that starts as a raised area that is usually dark blackish-blue or bluish-red but may not have any color." [HPO:probinson] xref: SNOMEDCT_US:2142002 xref: SNOMEDCT_US:254731001 xref: UMLS:C0334424 is_a: HP:0012056 ! Cutaneous melanoma created_by: peter creation_date: 2012-08-01T02:08:50Z [Term] id: HP:0012059 name: Lentigo maligna melanoma def: "A subtype of melanoma in situ that typically develops on sun-damaged skin. The lesion is typically a large, irregularly pigmented macule that has developed from an ordinary lentigo (a small pigmented spot on the skin with a clearly-defined edge). Change to a malignant lentigo typically takes place over 20 years or more, and many patients accept the change as a consequence of aging." [HPO:7734995, HPO:probinson] xref: SNOMEDCT_US:302837001 xref: SNOMEDCT_US:44474009 xref: UMLS:C2739810 is_a: HP:0012056 ! Cutaneous melanoma created_by: peter creation_date: 2012-08-01T02:16:45Z [Term] id: HP:0012060 name: Acral lentiginous melanoma def: "A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed." [HPO:probinson] xref: SNOMEDCT_US:16974005 xref: SNOMEDCT_US:254732008 xref: UMLS:C0346037 is_a: HP:0012056 ! Cutaneous melanoma created_by: peter creation_date: 2012-08-01T02:17:02Z [Term] id: HP:0012061 name: Urinary excretion of sialylated oligosaccharides def: "Excretion of oligosaccharides conjugated to sialic acid in the urine." [HPO:probinson] synonym: "Increased urinary sialyloligosaccharides" EXACT [] xref: UMLS:C2673302 is_a: HP:0010471 ! Oligosacchariduria created_by: hecht creation_date: 2012-08-04T02:14:44Z [Term] id: HP:0012062 name: Bone cyst alt_id: HP:0100696 def: "A fluid filled cavity that develops with a bone." [HPO:probinson] comment: Many bone cysts are asymptomatic. However, larger cysts can make the bone more susceptible to fracture. synonym: "Bone cyst" EXACT layperson [] synonym: "Bone cysts" EXACT layperson [] xref: MSH:D001845 xref: SNOMEDCT_US:112643007 xref: SNOMEDCT_US:203465002 xref: SNOMEDCT_US:203467005 xref: SNOMEDCT_US:66954000 xref: UMLS:C0005937 is_a: HP:0003330 ! Abnormal bone structure created_by: hecht creation_date: 2012-08-03T02:35:39Z [Term] id: HP:0012063 name: Aneurysmal bone cyst def: "Radiographic features include a dilated, radiolucent lesion typically located eccentrically within the metaphyseal portion of the bone, with fluid levels visible on magnetic resonance imaging." [HPO:probinson, pmid:22474093, pmid:7863874] xref: MSH:D017824 xref: SNOMEDCT_US:203468000 xref: SNOMEDCT_US:76000001 xref: UMLS:C0152244 is_a: HP:0012062 ! Bone cyst created_by: hecht creation_date: 2012-08-03T02:35:52Z [Term] id: HP:0012064 name: Unicameral bone cyst def: "A benign fluid filled simple cyst of bone filled with serous fluid." [HPO:probinson] xref: SNOMEDCT_US:112643007 xref: SNOMEDCT_US:203467005 xref: UMLS:C4082185 is_a: HP:0012062 ! Bone cyst created_by: hecht creation_date: 2012-08-03T02:42:14Z [Term] id: HP:0012065 name: Multiple bony cystic lesions def: "Presence of multiple cystic changes in multiple areas or multiple bones." [HPO:probinson] synonym: "Multiple bony cystic lesions" EXACT layperson [] xref: UMLS:C4023063 is_a: HP:0012062 ! Bone cyst created_by: hecht creation_date: 2012-08-03T02:45:09Z [Term] id: HP:0012066 name: Increased urinary disaccharide excretion def: "Increased concentration of disaccharide in the urine." [HPO:probinson] comment: Excess amount of disaccharides such as mannosyl-N-acetylglucosamine excreted in the urine. xref: UMLS:C4023062 is_a: HP:0010471 ! Oligosacchariduria created_by: hecht creation_date: 2012-08-04T02:54:28Z [Term] id: HP:0012067 name: Glycopeptiduria def: "Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues." [HPO:probinson] comment: This feature is often the result of a defect in glycosidase activate. Glycosidases catalyze the release of sugar moieties. synonym: "High urine glycopeptide levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023061 is_a: HP:0003110 ! Abnormality of urine homeostasis created_by: hecht creation_date: 2012-08-04T03:03:03Z [Term] id: HP:0012068 name: Aspartylglucosaminuria def: "Excretion of excess amounts of aspartylglucosamine in the urine." [HPO:probinson] synonym: "High urine aspartylglucosamine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D054880 xref: SNOMEDCT_US:54954004 xref: UMLS:C0268225 is_a: HP:0012067 ! Glycopeptiduria created_by: hecht creation_date: 2012-08-04T03:15:37Z [Term] id: HP:0012069 name: Keratan sulfate excretion in urine def: "An increased concentration of keratan sulfate in the urine." [HPO:probinson] comment: Keratan sulfate is a a glycosaminoglycan. xref: UMLS:C4023060 is_a: HP:0008155 ! Mucopolysacchariduria created_by: hecht creation_date: 2012-08-04T03:20:15Z [Term] id: HP:0012070 name: Chondroitin sulfate excretion in urine def: "An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine." [HPO:probinson] comment: Chondroitin sulfate refers to a class of 10-60 kDa glycosaminoglycan sulfates, which are widely distributed in cartilage. xref: UMLS:C4023059 is_a: HP:0008155 ! Mucopolysacchariduria created_by: hecht creation_date: 2012-08-04T03:22:36Z [Term] id: HP:0012071 name: Abnormal circulating acetylcarnitine concentration def: "Any deviation from the normal concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine." [HPO:probinson] comment: Carnitine fundergoes reversible esterification of its 3-hydroxyl group producing acylcarnitine, which can enter the mitochondria with the assistance of specific translocases. synonym: "Abnormal acetylcarnitine profile" RELATED [] xref: UMLS:C4020733 xref: UMLS:C4023058 is_a: HP:0010967 ! Abnormal circulating carnitine concentration created_by: hecht creation_date: 2012-08-11T09:03:41Z [Term] id: HP:0012072 name: Aciduria def: "Excretion of urine with an acid pH." [HPO:probinson] xref: SNOMEDCT_US:21806007 xref: UMLS:C0278026 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0012073 name: Abnormal urinary acylglycine profile def: "An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution." [HPO:probinson, pmid:10870848] comment: N-acylglycines result from glycine conjugation with exogenous compounds to enhance their excretion in urine. Glycine conjugation is also an effective detoxification system for preventing accumulation of acyl-CoA esters in several inherited metabolic disorders. xref: UMLS:C4023057 is_a: HP:0003110 ! Abnormality of urine homeostasis created_by: hecht creation_date: 2012-08-11T09:46:03Z [Term] id: HP:0012074 name: Tonic pupil def: "An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation." [HPO:probinson] subset: hposlim_core synonym: "Adie pupil" EXACT [] synonym: "Adie's tonic pupil" EXACT [] xref: MSH:D015845 xref: SNOMEDCT_US:24225004 xref: UMLS:C0040416 is_a: HP:0007686 ! Abnormal pupillary function created_by: hecht creation_date: 2012-08-11T09:58:20Z [Term] id: HP:0012075 name: Personality disorder def: "An abnormality of mental functioning affecting the personality and behavioural tendencies of an individual and characterized by a rigid and unhealthy pattern of thinking and behavior. The definition of a personal disorder implies that the abnormality is not the result of damage or insult to the brain or from another psychiatric disorder." [HPO:probinson] comment: A Personality disorder is generally associated with significant problems and limitations in relationships, social encounters, work and school. It is usually manifest since childhood or adolescence and continues throughout adulthood. xref: ICD-10:F60 "Specific personality disorders" xref: MSH:D010554 xref: SNOMEDCT_US:33449004 xref: UMLS:C0031212 is_a: HP:0031466 ! Impairment in personality functioning created_by: hecht creation_date: 2012-08-11T02:20:27Z [Term] id: HP:0012076 name: Borderline personality disorder def: "A personality disorder characterized by impulsive behavior and unpredictable and capricious mood. Affected individuals show a liability to outbursts of emotion and an incapacity to control the behavioural explosions." [HPO:probinson] synonym: "BPD" EXACT HP:0045077 [] xref: ICD-10:F60.3 "Emotionally unstable personality disorder, borderline type" xref: MSH:D001883 xref: SNOMEDCT_US:20010003 xref: UMLS:C0006012 is_a: HP:0012075 ! Personality disorder created_by: hecht creation_date: 2012-08-11T02:26:02Z [Term] id: HP:0012077 name: Histrionic personality disorder def: "A personality disorder characterized by shallow and labile affectivity, self-dramatization, theatricality, exaggerated expression of emotions, suggestibility, egocentricity, self-indulgence, lack of consideration for others, easily hurt feelings, and continuous seeking for appreciation, excitement and attention." [ICD-10:F60.4] xref: ICD-10:F60.4 "Histrionic personality disorder" xref: MSH:D006677 xref: SNOMEDCT_US:55341008 xref: UMLS:C0019681 is_a: HP:0012075 ! Personality disorder created_by: hecht creation_date: 2012-08-11T02:38:39Z [Term] id: HP:0012078 name: Motor conduction block def: "Blockade of impulses at a focal site along the course of a motor axon." [HPO:probinson] xref: UMLS:C4023056 is_a: HP:0000762 ! Decreased nerve conduction velocity is_a: HP:0040131 ! Abnormal motor nerve conduction velocity created_by: peter creation_date: 2012-08-18T04:34:49Z [Term] id: HP:0012079 name: Abnormality of central motor conduction def: "Any anomaly of the conduction of motor nerve impulses in the central nervous system." [HPO:probinson, pmid:3572430] comment: Nerve conduction velocity in the central motor pathways of the brain and spinal cord can be studied by methods including transcutaneous electrical stimulation of the cortex, cervical cord, thoracic cord and conus medullaris and determination of motor latencies to various muscles. This measure is thought to represent conduction in large diameter fibres in the corticospinal tracts. xref: UMLS:C4023055 is_a: HP:0011442 ! Abnormality of central motor function created_by: peter creation_date: 2012-08-18T04:41:05Z [Term] id: HP:0012080 name: Cerebellar granular layer atrophy def: "Atrophy of the cerebellum affecting primarily the granular cell layer." [HPO:probinson] xref: UMLS:C4023054 is_a: HP:0001272 ! Cerebellar atrophy created_by: peter creation_date: 2012-08-18T05:23:55Z [Term] id: HP:0012081 name: Enlarged cerebellum def: "An abnormally increased size of the cerebellum compared to other brain structures." [HPO:probinson] xref: UMLS:C3278024 is_a: HP:0001317 ! Abnormal cerebellum morphology created_by: peter creation_date: 2012-08-18T05:29:26Z [Term] id: HP:0012082 name: Cerebellar Purkinje layer atrophy def: "Atrophy of the cerebellum affecting primarily the Purkinje cell layer." [HPO:probinson] xref: UMLS:C4023053 is_a: HP:0001272 ! Cerebellar atrophy created_by: peter creation_date: 2012-08-18T05:31:43Z [Term] id: HP:0012083 name: Ubiquitin-positive cerebral inclusion bodies def: "Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain." [HPO:probinson] xref: UMLS:C4023052 is_a: HP:0100314 ! Cerebral inclusion bodies created_by: peter creation_date: 2012-08-18T05:34:56Z [Term] id: HP:0012084 name: Abnormality of skeletal muscle fiber size def: "Any abnormality of the size of the skeletal muscle cell." [HPO:probinson] xref: UMLS:C4023051 is_a: HP:0004303 ! Abnormal muscle fiber morphology created_by: peter creation_date: 2012-08-20T03:19:54Z [Term] id: HP:0012085 name: Pyuria def: "Presence of an increased number of neutrophils in the urine." [HPO:probinson] synonym: "High urine neutrophil count" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Leukocyturia" RELATED [] xref: MSH:D011776 xref: SNOMEDCT_US:275765006 xref: SNOMEDCT_US:4800001 xref: UMLS:C0034359 is_a: HP:0012614 ! Abnormal urine cytology created_by: peter creation_date: 2012-08-20T09:10:26Z [Term] id: HP:0012086 name: Abnormal urinary color def: "An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color." [HPO:probinson] synonym: "Abnormal urinary color" EXACT layperson [] synonym: "Abnormal urinary colour" EXACT layperson [] synonym: "Abnormal urine color" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:102867009 xref: SNOMEDCT_US:167239007 xref: UMLS:C0522153 is_a: HP:0003110 ! Abnormality of urine homeostasis created_by: peter creation_date: 2012-08-20T09:12:30Z [Term] id: HP:0012087 name: Abnormal mitochondrial shape def: "An anomaly in the surface contour of mitochondria." [HPO:probinson, MP:0011633] xref: UMLS:C4023050 is_a: HP:0008322 ! Abnormal mitochondrial morphology created_by: peter creation_date: 2012-09-08T11:02:39Z [Term] id: HP:0012088 name: Abnormal urinary odor def: "A deviation from the normal odor of the urine." [HPO:probinson] comment: Urine does not usually have a strong smell, but the odor may be altered by a number of factors including some diseases. Foul-smelling urine may be due to bacteria that have caused a urinary tract infection. Sweet-smelling urine may be a sign of uncontrolled diabetes or more rarely a disease of metabolism. Liver disease and certain metabolic disorders may cause musty-smelling urine. synonym: "Abnormal urinary odor" EXACT layperson [] synonym: "Abnormal urinary odour" EXACT layperson [] synonym: "Abnormal urine smell" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:8769003 xref: UMLS:C0278045 is_a: HP:0003110 ! Abnormality of urine homeostasis created_by: peter creation_date: 2012-08-20T09:13:26Z [Term] id: HP:0012089 name: Arteritis def: "Arterial inflammation." [HPO:probinson] synonym: "Inflammation of artery" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D001167 xref: SNOMEDCT_US:52089001 xref: UMLS:C0003860 is_a: HP:0011004 ! Abnormal systemic arterial morphology created_by: peter creation_date: 2012-08-20T09:15:19Z [Term] id: HP:0012090 name: Abnormal pancreas morphology synonym: "Abnormality of pancreas morphology" EXACT [] synonym: "Abnormally shaped pancreas" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4023049 is_a: HP:0001732 ! Abnormality of the pancreas created_by: peter creation_date: 2012-08-20T09:16:38Z [Term] id: HP:0012091 name: Abnormality of pancreas physiology def: "An anomaly of the function of the pancreas." [HPO:probinson] xref: UMLS:C4023048 is_a: HP:0001732 ! Abnormality of the pancreas created_by: peter creation_date: 2012-08-20T09:17:10Z [Term] id: HP:0012092 name: Abnormality of exocrine pancreas physiology def: "A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes." [HPO:probinson] synonym: "Abnormal exocrine pancreatic function" EXACT [HPO:skoehler] xref: UMLS:C4021103 is_a: HP:0012091 ! Abnormality of pancreas physiology created_by: peter creation_date: 2012-08-20T09:17:46Z [Term] id: HP:0012093 name: Abnormality of endocrine pancreas physiology def: "A function abnormality of the endocrine pancreas." [HPO:probinson] xref: UMLS:C4023047 is_a: HP:0000818 ! Abnormality of the endocrine system is_a: HP:0012091 ! Abnormality of pancreas physiology created_by: peter creation_date: 2012-08-20T09:18:18Z [Term] id: HP:0012094 name: Abnormal pancreas size def: "A deviation from the normal size of the pancreas." [HPO:probinson] synonym: "Abnormal pancreas size" EXACT layperson [] xref: UMLS:C4023046 is_a: HP:0012090 ! Abnormal pancreas morphology created_by: peter creation_date: 2012-08-20T09:19:08Z [Term] id: HP:0012095 name: Multiple joint dislocation def: "Dislocation of many joints." [HPO:probinson] synonym: "Multiple joint dislocations" RELATED [HPO:skoehler] xref: SNOMEDCT_US:287096003 xref: SNOMEDCT_US:34277002 xref: UMLS:C0332792 is_a: HP:0001373 ! Joint dislocation created_by: peter creation_date: 2012-08-20T09:19:52Z [Term] id: HP:0012096 name: Intracranial epidermoid cyst def: "A congenital inclusion cysts that arises from ectodermal cells that normally form skin cells being left behind in the nervous system during development." [HPO:probinson, pmid:16714456] comment: See Figure 8 in pmid:16714456. Epidermoid cysts arise from ectodermal inclusion during neural tube closure in the 3rd-5th week of embryogenesis. The microscopic cyst lining consists of stratified squamous epithelium supported by an outer layer of collagenous connective tissue. Cystic contents usually include debris, keratin, water, and cholesterol laid down in a lamellar fashion. Epidermoid cysts do not contain dermal appendages. xref: UMLS:C4023045 is_a: HP:0010576 ! Intracranial cystic lesion created_by: peter creation_date: 2012-08-20T09:21:24Z [Term] id: HP:0012097 name: Intracranial dermoid cyst def: "A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands." [HPO:probinson, pmid:16714456] comment: See Figure 9 in pmid:16714456. These cysts increase in size by means of glandular secretion and epithelial desquamation. Growth can lead to rupture of the cyst contents, causing a chemical meningitis that may lead to vasospasm, infarction, and even death. xref: UMLS:C4023044 is_a: HP:0010576 ! Intracranial cystic lesion created_by: peter creation_date: 2012-08-20T09:22:25Z [Term] id: HP:0012098 name: Edema of the dorsum of feet def: "An abnormal accumulation of fluid beneath the skin on the back of the feet." [HPO:probinson] synonym: "Edema of dorsum of feet" EXACT [] xref: SNOMEDCT_US:445124008 xref: UMLS:C2919341 is_a: HP:0010741 ! Pedal edema created_by: peter creation_date: 2012-08-20T09:33:33Z [Term] id: HP:0012099 name: Abnormality of circulating catecholamine level def: "An abnormal catecholamine concentration in the blood." [HPO:probinson] synonym: "Catecholamine levels abnormal" EXACT [] xref: UMLS:C4021102 is_a: HP:0003117 ! Abnormal circulating hormone level created_by: hecht creation_date: 2012-08-22T08:20:01Z [Term] id: HP:0012100 name: Abnormal circulating creatinine level def: "An abnormal concentration of creatinine in the blood." [HPO:probinson] synonym: "Abnormal blood creatinine level" EXACT layperson [] synonym: "Creatinine levels abnormal" EXACT layperson [] xref: UMLS:C4021101 is_a: HP:0004364 ! Abnormal circulating nitrogen compound concentration created_by: hecht creation_date: 2012-08-22T08:40:14Z [Term] id: HP:0012101 name: Decreased serum creatinine def: "An abnormally reduced amount of creatinine in the blood." [HPO:probinson] synonym: "Decreased serum creatinine" EXACT layperson [] synonym: "Low blood creatinine level" EXACT layperson [] synonym: "Reduced creatinine levels" EXACT layperson [] xref: SNOMEDCT_US:166715006 xref: UMLS:C0428282 is_a: HP:0012100 ! Abnormal circulating creatinine level created_by: hecht creation_date: 2012-08-22T08:42:16Z [Term] id: HP:0012102 name: Abnormal mitochondrial number def: "A deviation from the normal number of mitochondria per cell." [HPO:probinson] xref: UMLS:C4023043 is_a: HP:0008322 ! Abnormal mitochondrial morphology created_by: peter creation_date: 2012-09-08T11:03:33Z [Term] id: HP:0012103 name: Abnormality of the mitochondrion def: "An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration." [HPO:probinson] synonym: "Mitochondrial abnormalities" RELATED [HPO:skoehler] xref: UMLS:C4020732 xref: UMLS:C4023042 is_a: HP:0011017 ! Abnormal cellular physiology created_by: peter creation_date: 2012-09-08T11:05:06Z [Term] id: HP:0012104 name: Parietal cortical atrophy def: "Atrophy of the parietal cortex." [HPO:probinson] xref: UMLS:C4023041 is_a: HP:0002120 ! Cerebral cortical atrophy created_by: peter creation_date: 2012-09-08T02:50:05Z [Term] id: HP:0012105 name: Occipital cortical atrophy def: "Atrophy of the occipital cortex." [HPO:probinson] xref: UMLS:C4023040 is_a: HP:0002120 ! Cerebral cortical atrophy created_by: peter creation_date: 2012-09-08T02:50:53Z [Term] id: HP:0012106 name: Rhizomelic leg shortening def: "Disproportionate shortening of the proximal segment of the leg (i.e. the femur)." [HPO:probinson] xref: UMLS:C4023039 is_a: HP:0008905 ! Rhizomelia created_by: peter creation_date: 2012-09-08T03:53:33Z [Term] id: HP:0012107 name: Increased fibular diameter alt_id: HP:0200082 def: "Increased width of the cross sectional diameter of the fibula." [HPO:probinson, MP:0008159] synonym: "Thick fibula" EXACT [] synonym: "Thick fibulae" EXACT [] synonym: "Wide calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide fibula" EXACT [] xref: UMLS:C4021100 is_a: HP:0002991 ! Abnormality of fibula morphology is_a: HP:0005622 ! Broad long bones created_by: peter creation_date: 2012-09-08T04:03:50Z [Term] id: HP:0012108 name: Open angle glaucoma def: "A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure," [HPO:probinson, pmid:11815354] comment: Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disc ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis. synonym: "Primary open angle glaucoma" RELATED [] xref: MSH:C562750 xref: SNOMEDCT_US:77075001 xref: UMLS:C0339573 is_a: HP:0000501 ! Glaucoma created_by: peter creation_date: 2012-09-10T05:17:24Z [Term] id: HP:0012109 name: Angle closure glaucoma def: "A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact)." [HPO:probinson, pmid:11815354, UManchester:psergouniotis] comment: Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disc ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis. synonym: "Primary angle closure glaucoma" RELATED [] xref: SNOMEDCT_US:392288006 xref: UMLS:C0017606 is_a: HP:0000501 ! Glaucoma created_by: peter creation_date: 2012-09-10T05:22:48Z [Term] id: HP:0012110 name: Hypoplasia of the pons def: "Underdevelopment of the pons." [HPO:probinson] synonym: "Pontine hypoplasia" EXACT [] xref: UMLS:C1848529 is_a: HP:0007361 ! Abnormality of the pons created_by: peter creation_date: 2012-09-10T05:35:36Z [Term] id: HP:0012111 name: Abnormality of circulating glucocorticoid level def: "An abnormality of the concentration of a glucocorticoid in the blood." [HPO:probinson] xref: UMLS:C4023038 is_a: HP:0003117 ! Abnormal circulating hormone level created_by: hecht creation_date: 2012-09-16T04:22:26Z [Term] id: HP:0012112 name: Abnormal circulating corticosterone level def: "An abnormality of the concentration of corticosterone in the blood." [HPO:probinson] synonym: "Abnormality of circulating corticosterone level" EXACT [] xref: UMLS:C4023037 is_a: HP:0012111 ! Abnormality of circulating glucocorticoid level created_by: hecht creation_date: 2012-09-16T04:23:55Z [Term] id: HP:0012113 name: Abnormal circulating creatine concentration def: "A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells." [HPO:probinson] synonym: "Abnormality of creatine metabolism" EXACT layperson [] synonym: "Creatine metabolism abnormal" RELATED layperson [] xref: UMLS:C4020731 is_a: HP:0032180 ! Abnormal circulating metabolite concentration created_by: hecht creation_date: 2012-09-16T04:29:41Z [Term] id: HP:0012114 name: Endometrial carcinoma def: "A carcinoma of the endometrium, the mucous lining of the uterus." [HPO:probinson, NCIT:C7558] xref: MSH:D016889 xref: SNOMEDCT_US:254878006 xref: UMLS:C0476089 is_a: HP:0010784 ! Uterine neoplasm is_a: HP:0030126 ! Abnormality of the endometrium created_by: hecht creation_date: 2012-09-16T04:37:32Z [Term] id: HP:0012115 name: Hepatitis def: "Inflammation of the liver." [HPO:probinson] synonym: "Liver inflammation" EXACT layperson [] xref: MSH:D006505 xref: SNOMEDCT_US:128241005 xref: UMLS:C0019158 is_a: HP:0012649 ! Increased inflammatory response is_a: HP:0410042 ! Abnormal liver morphology created_by: hecht creation_date: 2012-09-16T05:03:29Z [Term] id: HP:0012116 name: Abnormal albumin level def: "Deviation from normal concentration of albumin in the blood." [HPO:probinson] synonym: "Abnormal albumin level" EXACT layperson [] xref: UMLS:C4023036 is_a: HP:0010876 ! Abnormal circulating protein level created_by: hecht creation_date: 2012-09-16T05:14:53Z [Term] id: HP:0012117 name: Hyperalbuminemia def: "Elevation in the concentration of albumin in the blood." [HPO:probinson] synonym: "High albumin" BROAD layperson [] synonym: "High blood albumin levels" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hyperalbuminaemia" EXACT [] xref: SNOMEDCT_US:119248009 xref: UMLS:C1142113 is_a: HP:0012116 ! Abnormal albumin level created_by: hecht creation_date: 2012-09-16T05:15:41Z [Term] id: HP:0012118 name: Laryngeal carcinoma def: "A carcinoma of the larynx." [HPO:probinson, NCIT:C4855] comment: Laryngeal carcinoma often is related to a history of smoking and may manifest by hoarseness, a lump in the neck, persistent cough, stridor and other symptoms. synonym: "Cancer of the larynx" EXACT [] synonym: "Laryngeal cancer" EXACT [] xref: SNOMEDCT_US:276975007 xref: UMLS:C0595989 is_a: HP:0100605 ! Neoplasm of the larynx created_by: hecht creation_date: 2012-09-16T05:28:05Z [Term] id: HP:0012119 name: Methemoglobinemia def: "Abnormally increased levels of methemoglobin in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues." [HPO:probinson] xref: MSH:D008708 xref: SNOMEDCT_US:131171006 xref: SNOMEDCT_US:38959009 xref: UMLS:C0025637 is_a: HP:0011902 ! Abnormal hemoglobin created_by: hecht creation_date: 2012-09-16T05:42:35Z [Term] id: HP:0012120 name: Methylmalonic aciduria def: "Increased concentration of methylmalonic acid in the urine." [HPO:probinson] comment: Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. synonym: "High blood methylmalonic acid levels" EXACT [ORCID:0000-0001-5208-3432] synonym: "Methymalonicaciduria" EXACT [] xref: MSH:C537358 xref: UMLS:C1855119 is_a: HP:0003215 ! Dicarboxylic aciduria created_by: hecht creation_date: 2012-09-16T06:02:23Z [Term] id: HP:0012121 name: Panuveitis def: "Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid." [HPO:probinson] xref: MSH:D015864 xref: SNOMEDCT_US:75614007 xref: UMLS:C0030343 is_a: HP:0000554 ! Uveitis created_by: hecht creation_date: 2012-09-16T06:23:34Z [Term] id: HP:0012122 name: Anterior uveitis def: "Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber." [HPO:probinson] xref: SNOMEDCT_US:4927003 xref: UMLS:C0701807 is_a: HP:0000554 ! Uveitis created_by: hecht creation_date: 2012-09-16T06:24:32Z [Term] id: HP:0012123 name: Posterior uveitis def: "Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid." [HPO:probinson] synonym: "Choroiditis" EXACT [ORCID:0000-0001-5208-3432] xref: MSH:D002833 xref: MSH:D015866 xref: SNOMEDCT_US:16553002 xref: SNOMEDCT_US:43363007 xref: UMLS:C0008526 xref: UMLS:C0042167 is_a: HP:0000554 ! Uveitis created_by: hecht creation_date: 2012-09-16T06:25:06Z [Term] id: HP:0012124 name: Intermediate uveitis def: "Inflammation of the uveal tract in which the primary site of inflammation is the vitreous." [HPO:probinson] xref: MSH:D015867 xref: SNOMEDCT_US:314429009 xref: UMLS:C0042166 is_a: HP:0000554 ! Uveitis created_by: hecht creation_date: 2012-09-16T06:25:53Z [Term] id: HP:0012125 name: Prostate cancer def: "A cancer of the prostate." [HPO:probinson] synonym: "Prostatic cancer" EXACT [] xref: MSH:D011471 xref: SNOMEDCT_US:399068003 xref: UMLS:C0376358 is_a: HP:0100787 ! Prostate neoplasm created_by: hecht creation_date: 2012-09-16T06:33:32Z [Term] id: HP:0012126 name: Stomach cancer def: "A cancer arising in any part of the stomach." [HPO:probinson] synonym: "Gastric cancer" EXACT [] xref: SNOMEDCT_US:372143007 xref: UMLS:C0699791 is_a: HP:0006753 ! Neoplasm of the stomach created_by: hecht creation_date: 2012-09-16T06:45:29Z [Term] id: HP:0012127 name: Uraciluria def: "Increased concentration of uracil in the urine." [HPO:probinson] synonym: "High urine uracil levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021833 is_a: HP:0003110 ! Abnormality of urine homeostasis created_by: hecht creation_date: 2012-09-16T06:53:53Z [Term] id: HP:0012128 name: Basal ganglia necrosis def: "Death of cells in the basal ganglia." [HPO:probinson] xref: UMLS:C4023035 is_a: HP:0002134 ! Abnormality of the basal ganglia created_by: hecht creation_date: 2012-09-16T07:00:22Z [Term] id: HP:0012129 name: Abnormality of bone marrow stromal cells xref: UMLS:C4023034 is_a: HP:0005561 ! Abnormality of bone marrow cell morphology created_by: peter creation_date: 2012-09-16T07:13:26Z [Term] id: HP:0012130 name: Abnormal erythroid lineage cell morphology def: "An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes." [DDD:akelly] synonym: "Abnormality of cells of the erythroid lineage" EXACT [] xref: UMLS:C4020862 is_a: HP:0020047 ! Abnormal myeloid cell morphology created_by: peter creation_date: 2012-09-16T07:14:03Z [Term] id: HP:0012131 name: Abnormal number of erythroid precursors def: "A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow." [DDD:akelly] xref: UMLS:C4023033 is_a: HP:0001877 ! Abnormal erythrocyte morphology created_by: peter creation_date: 2012-09-16T07:17:18Z [Term] id: HP:0012132 name: Erythroid hyperplasia def: "Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow." [DDD:akelly] synonym: "Bone marrow biopsy shows erythroid hyperplasia" RELATED [HPO:skoehler] synonym: "Bone marrow smear shows erythroid hyperplasia" RELATED [HPO:skoehler] xref: UMLS:C0014800 xref: UMLS:C1838111 xref: UMLS:C3552917 is_a: HP:0012131 ! Abnormal number of erythroid precursors created_by: peter creation_date: 2012-09-16T07:19:21Z [Term] id: HP:0012133 name: Erythroid hypoplasia def: "Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow." [DDD:akelly] synonym: "Erythroblastopenia" EXACT [] synonym: "Erythroid hypoplasia in the bone marrow" RELATED [HPO:skoehler] xref: MSH:D000741 xref: SNOMEDCT_US:167923006 xref: SNOMEDCT_US:41614006 xref: UMLS:C0178416 xref: UMLS:C0542035 is_a: HP:0012131 ! Abnormal number of erythroid precursors created_by: peter creation_date: 2012-09-16T07:21:19Z [Term] id: HP:0012134 name: Dysplastic erythropoesis xref: UMLS:C4023032 is_a: HP:0001877 ! Abnormal erythrocyte morphology created_by: peter creation_date: 2012-09-16T08:01:11Z [Term] id: HP:0012135 name: Abnormal granulocytopoietic cell morphology def: "An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell." [DDD:akelly] synonym: "Abnormality of cells of the granulocytic lineage" EXACT [] xref: UMLS:C4023031 is_a: HP:0005561 ! Abnormality of bone marrow cell morphology created_by: peter creation_date: 2012-09-16T08:02:11Z [Term] id: HP:0012136 name: Dysplastic granulopoesis xref: UMLS:C4023030 is_a: HP:0012135 ! Abnormal granulocytopoietic cell morphology created_by: peter creation_date: 2012-09-16T08:05:13Z [Term] id: HP:0012137 name: Abnormal number of granulocyte precursors xref: UMLS:C4023029 is_a: HP:0012135 ! Abnormal granulocytopoietic cell morphology created_by: peter creation_date: 2012-09-16T08:09:13Z [Term] id: HP:0012138 name: Granulocytic hyperplasia xref: UMLS:C4023028 is_a: HP:0012137 ! Abnormal number of granulocyte precursors created_by: peter creation_date: 2012-09-16T08:09:36Z [Term] id: HP:0012139 name: Granulocytic hypoplasia def: "Decreased number of granulocyte precursors in the bone marrow." [HPO:akelly] xref: SNOMEDCT_US:416627004 xref: UMLS:C1534864 is_a: HP:0012137 ! Abnormal number of granulocyte precursors created_by: peter creation_date: 2012-09-16T08:09:56Z [Term] id: HP:0012140 name: obsolete Abnormality of cells of the lymphoid lineage is_obsolete: true replaced_by: HP:0004332 [Term] id: HP:0012142 name: Pancreatic squamous cell carcinoma def: "A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium." [HPO:probinson, pmid:19079631] synonym: "Squamous cell carcinoma of the pancreas" EXACT [] xref: UMLS:C2675993 is_a: HP:0002894 ! Neoplasm of the pancreas created_by: peter creation_date: 2012-09-16T08:55:24Z [Term] id: HP:0012143 name: Abnormal megakaryocyte morphology def: "Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells." [] synonym: "Abnormality of cells of the megakaryocyte lineage" EXACT [] xref: UMLS:C4023026 is_a: HP:0005561 ! Abnormality of bone marrow cell morphology created_by: peter creation_date: 2012-09-16T08:20:38Z [Term] id: HP:0012144 name: Abnormality monocyte morphology def: "Any structural anomaly of a myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." [] xref: UMLS:C4023025 is_a: HP:0010974 ! Abnormal myeloid leukocyte morphology created_by: peter creation_date: 2012-09-16T08:21:37Z [Term] id: HP:0012145 name: Abnormality of multiple cell lineages in the bone marrow xref: UMLS:C4023024 is_a: HP:0005561 ! Abnormality of bone marrow cell morphology created_by: peter creation_date: 2012-09-16T08:21:57Z [Term] id: HP:0012146 name: Abnormality of von Willebrand factor def: "Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces." [DDD:akelly] xref: UMLS:C4023023 is_a: HP:0003256 ! Abnormality of the coagulation cascade created_by: peter creation_date: 2012-09-16T08:25:58Z [Term] id: HP:0012147 name: Reduced quantity of Von Willebrand factor def: "Decreased quantity of von Willebrand factor." [DDD:akelly] synonym: "Decreased von Willebrand factor" RELATED [] xref: UMLS:C1841816 xref: UMLS:C4023022 is_a: HP:0012146 ! Abnormality of von Willebrand factor created_by: peter creation_date: 2012-09-16T08:27:00Z [Term] id: HP:0012148 name: Multiple lineage myelodysplasia def: "Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic." [DDD:akelly] xref: UMLS:C4023021 is_a: HP:0002863 ! Myelodysplasia created_by: peter creation_date: 2012-09-16T08:33:33Z [Term] id: HP:0012149 name: Bilineage myelodysplasia def: "Myelodysplasia with dysplastic changes in two of the myeloid lineages: erythroid, granulocytic, megakaryocytic." [DDD:akelly] xref: UMLS:C4023020 is_a: HP:0002863 ! Myelodysplasia created_by: peter creation_date: 2012-09-16T08:39:10Z [Term] id: HP:0012150 name: Single lineage myelodysplasia def: "Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic)." [DDD:akelly] xref: UMLS:C4023019 is_a: HP:0002863 ! Myelodysplasia created_by: peter creation_date: 2012-09-16T08:39:39Z [Term] id: HP:0012151 name: Hemothorax def: "The presence of blood in the pleural space." [HPO:probinson] comment: Hemothorax may result from hemorrhage in the chest wall, lung parenchyma, heart, or great vessels. xref: MSH:D006491 xref: SNOMEDCT_US:31892009 xref: UMLS:C0019123 is_a: HP:0002103 ! Abnormality of the pleura created_by: peter creation_date: 2012-09-16T08:58:32Z [Term] id: HP:0012152 name: Foveoschisis def: "Splitting of the retinal layers in the macula." [HPO:probinson] synonym: "Retinoschisis involving the fovea" EXACT [] xref: UMLS:C2674407 is_a: HP:0000493 ! Abnormal foveal morphology is_a: HP:0030502 ! Retinoschisis created_by: peter creation_date: 2012-09-16T09:06:26Z [Term] id: HP:0012153 name: Hypotriglyceridemia def: "An decrease in the level of triglycerides in the blood." [HPO:probinson] synonym: "Decreased circulating Tg levels" EXACT HP:0045077 [] synonym: "Decreased plasma Tg levels" EXACT HP:0045077 [] synonym: "Low blood triglyceride levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C0542037 is_a: HP:0045014 ! Hypolipidemia created_by: peter creation_date: 2012-09-20T06:39:11Z [Term] id: HP:0012154 name: Anhedonia def: "Inability to experience pleasure activities usually found enjoyable." [HPO:probinson] xref: MSH:D059445 xref: SNOMEDCT_US:247796005 xref: SNOMEDCT_US:28669007 xref: UMLS:C0178417 is_a: HP:0031466 ! Impairment in personality functioning created_by: peter creation_date: 2012-09-20T06:51:36Z [Term] id: HP:0012155 name: Decreased corneal sensation def: "Reduced ability of the cornea to respond to stimulation." [HPO:probinson] comment: Corneal sensitivity to touch can be assessed by an aesthesiometer, which measures the corneal touch threshold. Decreased corneal sensation is associated with a decreased corneal reflex (HP:0008000); however, impairment of the corneal reflex can have other causes such as trigeminal nerve compression or a cerebellopontine angle lesion. Well known causes of decreased corneal sensation include Herpes simplex keratitis, neuroparalytic keratitis, leprosy, acoustic neuroma, and absolute glaucoma. synonym: "Corneal hypaesthesia" EXACT [] synonym: "Corneal hypesthesia" EXACT [] synonym: "Decreased corneal sensitivity" RELATED [] synonym: "Reduced corneal sensation" EXACT [] xref: SNOMEDCT_US:373433005 xref: UMLS:C0271292 xref: UMLS:C0859996 is_a: HP:0000481 ! Abnormal cornea morphology created_by: hecht creation_date: 2013-01-04T08:36:10Z [Term] id: HP:0012156 name: Hemophagocytosis def: "Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues." [HPO:probinson] comment: Hemophagocytosis is a nonspecific phenotypic feature observed in several conditions including hemolytic anemia, malignant disease, infections, and hemophagocytic syndrome (also known as hemophagocytic lymphohistiocytosis, a rare hyperinflammatory syndrome caused by severe hypercytokinemia due to a highly stimulated but ineffective immune process). xref: SNOMEDCT_US:61070002 xref: UMLS:C0876991 is_a: HP:0004311 ! Abnormal macrophage morphology created_by: peter creation_date: 2013-01-07T10:11:21Z [Term] id: HP:0012157 name: Subcortical cerebral atrophy def: "Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter." [HPO:probinson, pmid:20813998] xref: UMLS:C4023018 is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum created_by: peter creation_date: 2013-01-20T11:22:50Z [Term] id: HP:0012158 name: Carotid artery dissection def: "A separation (dissection) of the layers of the carotid artery wall." [HPO:probinson] xref: UMLS:C0338585 is_a: HP:0005344 ! Abnormal carotid artery morphology created_by: peter creation_date: 2013-02-16T07:19:57Z [Term] id: HP:0012159 name: Internal carotid artery dissection def: "A separation (dissection) of the layers of the internal carotid artery wall." [HPO:probinson] comment: The internal carotid begins at the bifurcation of the common carotid, opposite the upper border of the thyroid cartilage, and runs perpendicularly upward. It supplies the anterior part of the brain, the eye and its appendages, and sends branches to the forehead and nose. Interstitial hemorrhage into the media of the vessel wall can lead to occlusion of the internal carotid artery and aneurysm formation. xref: MSH:D020215 xref: SNOMEDCT_US:705066004 xref: UMLS:C0751815 is_a: HP:0012158 ! Carotid artery dissection created_by: peter creation_date: 2013-02-16T07:22:28Z [Term] id: HP:0012160 name: Intracranial internal carotid artery dissection def: "A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall." [HPO:probinson] xref: UMLS:C4023017 is_a: HP:0012159 ! Internal carotid artery dissection created_by: peter creation_date: 2013-02-16T07:31:51Z [Term] id: HP:0012161 name: External carotid artery dissection def: "A separation (dissection) of the layers of the external carotid artery wall." [HPO:probinson] xref: UMLS:C4023016 is_a: HP:0012158 ! Carotid artery dissection created_by: peter creation_date: 2013-02-16T07:33:34Z [Term] id: HP:0012162 name: Common carotid artery dissection def: "A separation (dissection) of the layers of the common carotid artery wall." [HPO:probinson] xref: UMLS:C4023015 is_a: HP:0012158 ! Carotid artery dissection created_by: peter creation_date: 2013-02-16T07:34:14Z [Term] id: HP:0012163 name: Carotid artery dilatation def: "A dilatation (balooning or bulging out of the vessel wall) of a carotid artery." [HPO:probinson] synonym: "Carotid artery aneurysm" NARROW [] xref: SNOMEDCT_US:233988005 xref: UMLS:C0340639 is_a: HP:0005344 ! Abnormal carotid artery morphology created_by: peter creation_date: 2013-02-16T10:18:06Z [Term] id: HP:0012164 name: Asterixis def: "A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints." [HPO:probinson] comment: The examiner can test for asterixis by asking the patient to extend the arms, spread the fingers, dorsiflex the wrist and observe for the abnormal "flapping" tremor at the wrist. Asterixis represents the failure to actively maintain a position and is caused by the abnormal function of diencephalic motor centers that regulate the tone of the agonist and antagonist muscles involved in maintaining posture. xref: MSH:D020820 xref: SNOMEDCT_US:32838008 xref: UMLS:C0232766 is_a: HP:0100022 ! Abnormality of movement created_by: peter creation_date: 2013-02-16T10:20:08Z [Term] id: HP:0012165 name: Oligodactyly def: "A developmental defect resulting in the presence of fewer than the normal number of digits." [HPO:probinson] xref: UMLS:C3887496 is_a: HP:0011297 ! Abnormal digit morphology created_by: peter creation_date: 2013-02-16T10:44:40Z [Term] id: HP:0012166 name: Skin-picking def: "Repetitive and compulsive picking of skin which results in tissue damage." [HPO:probinson, pmid:20575652] synonym: "Compulsive skin picking" EXACT [] synonym: "Dermatillomania" EXACT [] xref: ICD-10:F63.3 "Trichotillomania" xref: UMLS:C1696701 is_a: HP:0100716 ! Self-injurious behavior created_by: peter creation_date: 2013-02-20T07:12:33Z [Term] id: HP:0012167 name: Hair-pulling def: "A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss." [HPO:probinson] synonym: "Trichotillomania" EXACT [] xref: MSH:D014256 xref: SNOMEDCT_US:17155009 xref: UMLS:C0040953 is_a: HP:0100716 ! Self-injurious behavior created_by: peter creation_date: 2013-02-20T07:16:10Z [Term] id: HP:0012168 name: Head-banging def: "Habitual striking of one's own head against a surface such as a mattress or wall of a crib." [HPO:probinson] synonym: "Head-banging" EXACT layperson [] xref: MSH:D019956 xref: SNOMEDCT_US:43954004 xref: UMLS:C0018672 is_a: HP:0100716 ! Self-injurious behavior created_by: peter creation_date: 2013-02-20T09:33:57Z [Term] id: HP:0012169 name: Self-biting def: "Habitual biting of one's own body." [HPO:probinson] comment: Biting of one's own arms, lip, check, finger etc. xref: SNOMEDCT_US:248072009 xref: UMLS:C0424375 is_a: HP:0100716 ! Self-injurious behavior created_by: peter creation_date: 2013-02-20T09:36:42Z [Term] id: HP:0012170 name: Nail-biting def: "Habitual biting of one's own fingernails." [HPO:probinson] synonym: "Nail-biting" EXACT layperson [] synonym: "Onychophagia" EXACT [] synonym: "Onychophagy" EXACT [] xref: ICD-10:F98.8 xref: MSH:D009259 xref: SNOMEDCT_US:37298006 xref: UMLS:C0027338 is_a: HP:0012169 ! Self-biting created_by: peter creation_date: 2013-02-20T09:40:31Z [Term] id: HP:0012171 name: Stereotypical hand wringing def: "Habitual clasping and squeezing of the hands." [HPO:probinson] xref: UMLS:C4023014 is_a: HP:0000733 ! Stereotypy created_by: peter creation_date: 2013-02-20T09:44:45Z [Term] id: HP:0012172 name: Stereotypical body rocking def: "Habitual repetitive movement of the body." [HPO:probinson] xref: UMLS:C4023013 is_a: HP:0000733 ! Stereotypy created_by: peter creation_date: 2013-02-20T10:17:35Z [Term] id: HP:0012173 name: Orthostatic tachycardia def: "An increase in heart rate with standing of 30 beats per minute or more." [HPO:probinson, pmid:9244228] synonym: "Postural tachycardia" EXACT [] xref: UMLS:C4021099 is_a: HP:0012332 ! Abnormal autonomic nervous system physiology created_by: peter creation_date: 2013-02-23T09:42:20Z [Term] id: HP:0012174 name: Glioblastoma multiforme alt_id: HP:0100843 def: "A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation." [HPO:probinson, NCIT:C3058, pmid:10841526] synonym: "Glioblastoma" EXACT [] xref: MSH:D005909 xref: SNOMEDCT_US:393563007 xref: SNOMEDCT_US:63634009 xref: UMLS:C1621958 is_a: HP:0009733 ! Glioma created_by: peter creation_date: 2013-02-23T09:47:02Z [Term] id: HP:0012175 name: Resistance to activated protein C def: "Poor anticoagulant response to activated protein C. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay." [HPO:probinson, pmid:14976057] comment: The protein C pathway is a major anticoagulant mechanism that down-regulates the prothrombin- and intrinsic factor X (FX)-activating complexes via inactivation of their respective cofactors, activated factors V (FVa) and VIII (FVIIIa). Cofactor inactivation occurs by limited proteolysis at certain amino acid positions in FVa and in FVIIIa. These reactions are catalyzed by the serine protease activated protein C (APC) and stimulated by the APC cofactor protein S. Functional defects of the protein C pathway determine a plasma phenotype known as APC resistance, which is a prevalent and important risk factor for venous thrombosis. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time (aPTT) assay. synonym: "Activated protein C resistance" EXACT [] xref: MSH:D020016 xref: SNOMEDCT_US:421527008 xref: UMLS:C0600433 is_a: HP:0030780 ! Abnormality of the protein C anticoagulant pathway created_by: peter creation_date: 2013-02-23T09:54:07Z [Term] id: HP:0012176 name: Abnormal natural killer cell morphology def: "An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells." [HPO:probinson, pmid:21212348] synonym: "Abnormal NK cells" EXACT [HPO:skoehler] synonym: "Abnormality of natural killer cells" EXACT [] xref: UMLS:C4021098 is_a: HP:0004332 ! Abnormal lymphocyte morphology created_by: peter creation_date: 2013-02-23T10:02:16Z [Term] id: HP:0012177 name: Abnormal natural killer cell physiology def: "A functional anomaly of the natural killer cell." [HPO:probinson] xref: UMLS:C4023012 is_a: HP:0031409 ! Abnormal lymphocyte physiology created_by: peter creation_date: 2013-02-23T10:03:37Z [Term] id: HP:0012178 name: Reduced natural killer cell activity def: "Reduced ability of the natural killer cell to function in the adaptive immune response." [HPO:probinson] xref: UMLS:C1839969 is_a: HP:0012177 ! Abnormal natural killer cell physiology created_by: peter creation_date: 2013-02-23T10:05:33Z [Term] id: HP:0012179 name: Craniofacial dystonia def: "A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia." [HPO:probinson] synonym: "Abnormal craniofacial muscle tone" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormal craniofacial posture" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormal facial muscle tone" NARROW [ORCID:0000-0001-5889-4463] synonym: "Distorted craniofacial posture" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Facial Dystonia" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C1851915 xref: UMLS:C4023011 xref: UMLS:C4072883 is_a: HP:0004373 ! Focal dystonia created_by: peter creation_date: 2013-02-23T10:10:32Z [Term] id: HP:0012180 name: Cystic medial necrosis alt_id: HP:0200145 def: "A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells." [HPO:probinson] comment: The lesions of cystic medial necrosis are not true cysts. synonym: "Arterial cystic medial necrosis" EXACT [] xref: MSH:C536230 xref: SNOMEDCT_US:234021009 xref: SNOMEDCT_US:42182000 xref: SNOMEDCT_US:45894003 xref: UMLS:C0392775 is_a: HP:0011004 ! Abnormal systemic arterial morphology created_by: peter creation_date: 2013-02-23T10:17:16Z [Term] id: HP:0012181 name: Entrapment neuropathy def: "Malfunction of a peripheral nerve resulting from mechanical compression of the nerve roots from internal or external causes and leading to a conduction block or axonal loss." [HPO:probinson] comment: An entrapment neuropathy is an isolated peripheral nerve injury due to mechanical contriction in a fibrous or fibro-osseous tunnel or to deformation of the nerve by a fibrous band. xref: MSH:D009408 xref: SNOMEDCT_US:45781009 xref: UMLS:C1510429 is_a: HP:0009830 ! Peripheral neuropathy created_by: peter creation_date: 2013-02-23T10:20:59Z [Term] id: HP:0012182 name: Oropharyngeal squamous cell carcinoma def: "A squamous cell carcinoma that originates in the oropharnyx." [HPO:probinson] xref: SNOMEDCT_US:423464009 xref: SNOMEDCT_US:707585008 xref: UMLS:C0280313 is_a: HP:0002860 ! Squamous cell carcinoma created_by: peter creation_date: 2013-02-23T10:28:31Z [Term] id: HP:0012183 name: Hyperplastic colonic polyposis def: "Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation." [HPO:probinson] xref: UMLS:C4023010 is_a: HP:0030255 ! Large intestinal polyposis created_by: peter creation_date: 2013-02-24T09:08:55Z [Term] id: HP:0012184 name: Increased HDL cholesterol concentration def: "An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood." [HPO:probinson] comment: The major apolipoproteins of HDL are apolipoprotein (apo) A-I and apo A-II, also known as the alpha lipoproteins. Thus, hyperalphalipoproteinemia refers to an elevated concentration of apo A-I and apo A-II. synonym: "High blood HDL level" EXACT layperson [] synonym: "Hyperalphalipoproteinemia" EXACT [] synonym: "Increased circulating high-density lipoprotein levels" EXACT [] xref: MSH:C564591 xref: SNOMEDCT_US:238080004 xref: UMLS:C0342883 is_a: HP:0010980 ! Hyperlipoproteinemia is_a: HP:0031888 ! Abnormal HDL cholesterol concentration created_by: peter creation_date: 2013-02-24T09:14:45Z [Term] id: HP:0012185 name: Constrictive median neuropathy def: "Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand." [HPO:probinson] comment: Constrictive median neuropathy is the major clinical feature of carpal tunnel syndrome. synonym: "Carpal tunnel syndrome" RELATED [] xref: UMLS:C4023009 is_a: HP:0012181 ! Entrapment neuropathy created_by: peter creation_date: 2013-02-24T09:24:32Z [Term] id: HP:0012186 name: Entrapment neuropathy of the ulnar nerve at elbow def: "An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand." [HPO:probinson] xref: UMLS:C4023008 is_a: HP:0012181 ! Entrapment neuropathy created_by: peter creation_date: 2013-02-24T09:27:57Z [Term] id: HP:0012187 name: Increased erythrocyte protoporphyrin concentration def: "An increased concentration of protoporphyrins in erythrocytes." [HPO:probinson, pmid:18760763] xref: UMLS:C4023007 is_a: HP:0010472 ! Abnormal circulating porphyrin concentration created_by: peter creation_date: 2013-02-24T09:49:59Z [Term] id: HP:0012188 name: Hyperemesis gravidarum def: "Excessive vomiting in early pregnancy, leading to the loss of 5% or more of body weight." [HPO:probinson, OMIM:603373] xref: MSH:D006939 xref: SNOMEDCT_US:14094001 xref: UMLS:C0020450 is_a: HP:0002686 ! Prenatal maternal abnormality created_by: peter creation_date: 2013-02-24T09:58:18Z [Term] id: HP:0012189 name: Hodgkin lymphoma def: "A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells." [HPO:probinson] synonym: "Hodgkin disease" EXACT [] synonym: "Hodgkin's lymphoma" EXACT [] xref: MSH:D006689 xref: SNOMEDCT_US:118599009 xref: SNOMEDCT_US:118602004 xref: SNOMEDCT_US:118605002 xref: SNOMEDCT_US:118606001 xref: SNOMEDCT_US:14537002 xref: SNOMEDCT_US:46923007 xref: SNOMEDCT_US:70600005 xref: SNOMEDCT_US:74189002 xref: UMLS:C0019829 is_a: HP:0002665 ! Lymphoma created_by: peter creation_date: 2013-02-27T06:53:11Z [Term] id: HP:0012190 name: T-cell lymphoma def: "A type of lymphoma that originates in T-cells." [HPO:probinson] synonym: "T cell lymphoma" EXACT [] xref: MSH:D016399 xref: SNOMEDCT_US:109978004 xref: SNOMEDCT_US:3172003 xref: UMLS:C0079772 is_a: HP:0012539 ! Non-Hodgkin lymphoma created_by: peter creation_date: 2013-02-27T06:56:11Z [Term] id: HP:0012191 name: B-cell lymphoma def: "A type of lymphoma that originates in B-cells." [HPO:probinson] synonym: "B cell lymphoma" EXACT [] xref: MSH:D016393 xref: SNOMEDCT_US:109979007 xref: SNOMEDCT_US:1929004 xref: SNOMEDCT_US:413616009 xref: UMLS:C0079731 is_a: HP:0012539 ! Non-Hodgkin lymphoma created_by: peter creation_date: 2013-02-27T06:59:05Z [Term] id: HP:0012192 name: Cutaneous T-cell lymphoma def: "A type of T-cell lymphoma that exhibits malignant infiltration of the skin." [HPO:probinson] xref: MSH:D016410 xref: SNOMEDCT_US:28054005 xref: SNOMEDCT_US:400122007 xref: UMLS:C0079773 is_a: HP:0012190 ! T-cell lymphoma created_by: peter creation_date: 2013-02-27T07:03:19Z [Term] id: HP:0012193 name: Anaplastic large-cell lymphoma def: "A type of T-cell lymphoma that is characterized by so-called hallmark cells with a pleomorphic appearance that express the CD30 antigen, are lobulated, and have indented nuclei." [HPO:probinson] xref: MSH:D017728 xref: SNOMEDCT_US:277637000 xref: SNOMEDCT_US:53237008 xref: UMLS:C0206180 is_a: HP:0012190 ! T-cell lymphoma created_by: peter creation_date: 2013-02-27T07:15:32Z [Term] id: HP:0012194 name: Episodic hemiplegia def: "Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body." [HPO:probinson] xref: UMLS:C1863061 is_a: HP:0002301 ! Hemiplegia created_by: peter creation_date: 2013-02-27T07:26:26Z [Term] id: HP:0012195 name: Irregular respiration def: "Uneven rhythm of breathing." [HPO:probinson] synonym: "Irregular respiratory rhythm" EXACT [] xref: SNOMEDCT_US:248585001 xref: UMLS:C0425492 is_a: HP:0002793 ! Abnormal pattern of respiration created_by: peter creation_date: 2013-03-11T05:10:57Z [Term] id: HP:0012196 name: Cheyne-Stokes respiration def: "An abnormal pattern of respiration characterized by cycles of respiration that are increasingly deeper then shallower with possible periods of apnea. Affected patients may display a 10 to 20 second episode of hypoventilation or apnea, followed by respiration of increased depth and frequency over the course of about one minute. The cycle repeats every 45 seconds to 3 minutes." [HPO:probinson] synonym: "Periodic respiration" EXACT [] xref: MSH:D002639 xref: SNOMEDCT_US:271824009 xref: SNOMEDCT_US:309155007 xref: UMLS:C0008039 xref: UMLS:C1313952 is_a: HP:0002793 ! Abnormal pattern of respiration created_by: peter creation_date: 2013-03-11T07:00:56Z [Term] id: HP:0012197 name: Insulinoma def: "A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia." [HPO:probinson, NCIT:C95598] synonym: "Pancreatic insulinoma" EXACT [] xref: MSH:D007340 xref: SNOMEDCT_US:25324008 xref: SNOMEDCT_US:302822000 xref: UMLS:C0021670 is_a: HP:0008261 ! Pancreatic islet cell adenoma created_by: peter creation_date: 2013-03-11T07:06:29Z [Term] id: HP:0012198 name: Juvenile colonic polyposis def: "The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands." [HPO:probinson, pmid:17768394, pmid:25022750] comment: A juvenile polyp is a hamartomatous growth that projects from the lining of the intestine. It does not arise from the colonocytes themselves but from the tissues underneath the lining cells. xref: UMLS:C4023006 is_a: HP:0004390 ! Hamartomatous polyposis is_a: HP:0030255 ! Large intestinal polyposis created_by: peter creation_date: 2013-03-11T07:09:42Z [Term] id: HP:0012199 name: Cluster headache def: "A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs." [HPO:probinson, pmid:21912573] comment: According to the International Classification of Headache Disorders (ICHD-II), the diagnosis of cluster headache can be made with at least five attacks fulfilling criteria B-D:\nB) Severe or very severe unilateral orbital, supraorbital and/or temporal pain lasting 15-180 minutes if untreated.\nC) Headache is accompanied by at least 1 of the following:\n(i) Ipsilateral conjunctival injection and/or lacrimation.\n(ii) Ipsilateral nasal congestion and/or rhinorrhea.\n(iii) Ipsilateral eyelid edema.\n(iv) Ipsilateral forehead and facial sweating.\n(v) Ipsilateral miosis and/or ptosis.\n(vi) A sense of restlessness or agitation.\nD) Attacks have a frequency from 1 every other day to 8/day.\nAdditionally, the headaches cannot attributed to another disorder. xref: ICD-10:G44.0 "Cluster headache syndrome" xref: MSH:D003027 xref: SNOMEDCT_US:193031009 xref: SNOMEDCT_US:193947008 xref: SNOMEDCT_US:230473009 xref: UMLS:C0009088 is_a: HP:0002315 ! Headache created_by: peter creation_date: 2013-03-12T11:37:40Z [Term] id: HP:0012200 name: Abnormality of prothrombin def: "An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade." [HPO:probinson] xref: UMLS:C4023005 is_a: HP:0003256 ! Abnormality of the coagulation cascade created_by: peter creation_date: 2013-03-12T11:48:06Z [Term] id: HP:0012201 name: obsolete Reduced prothrombin activity is_obsolete: true replaced_by: HP:0008151 [Term] id: HP:0012202 name: Increased serum bile acid concentration def: "An increase in the concentration of bile acid in the blood." [HPO:probinson] xref: UMLS:C4023004 is_a: HP:0030984 ! Abnormal serum bile acid concentration created_by: peter creation_date: 2013-03-12T11:56:40Z [Term] id: HP:0012203 name: Onychomycosis def: "A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split." [HPO:probinson] xref: MSH:D014009 xref: SNOMEDCT_US:414941008 xref: UMLS:C0040261 is_a: HP:0002841 ! Recurrent fungal infections created_by: peter creation_date: 2013-03-12T12:08:30Z [Term] id: HP:0012204 name: Recurrent vulvovaginal candidiasis def: "Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida." [HPO:probinson] xref: UMLS:C4023003 is_a: HP:0002728 ! Chronic mucocutaneous candidiasis created_by: peter creation_date: 2013-03-12T12:09:45Z [Term] id: HP:0012205 name: Globozoospermia def: "Any structural anomaly of the acrosome resulting in a round sperm head." [HPO:probinson, MP:0002686] xref: MSH:D000072660 xref: SNOMEDCT_US:236818008 xref: UMLS:C0403825 is_a: HP:0012865 ! Sperm head anomaly created_by: peter creation_date: 2013-03-12T12:21:08Z [Term] id: HP:0012206 name: Abnormal sperm motility def: "An anomaly of the mobility of ejaculated sperm." [HPO:probinson] synonym: "Abnormal sperm motility" EXACT layperson [] xref: UMLS:C0855512 is_a: HP:0000025 ! Functional abnormality of male internal genitalia created_by: peter creation_date: 2013-03-12T12:23:21Z [Term] id: HP:0012207 name: Reduced sperm motility def: "An abnormal reduction in the mobility of ejaculated sperm." [HPO:probinson] synonym: "Asthenospermia" EXACT [] synonym: "Reduced sperm motility" EXACT layperson [] xref: UMLS:C4023002 is_a: HP:0012206 ! Abnormal sperm motility created_by: peter creation_date: 2013-03-12T12:23:59Z [Term] id: HP:0012208 name: Nonmotile sperm def: "A lack of mobility of ejaculated sperm." [HPO:probinson] xref: UMLS:C4023001 is_a: HP:0012206 ! Abnormal sperm motility created_by: peter creation_date: 2013-03-12T12:24:28Z [Term] id: HP:0012209 name: Juvenile myelomonocytic leukemia def: "Juvenile myelomonocytic leukemia (JMML) is a lethal myeloproliferative disease of young childhood characterized clinically by overproduction of myelomonocytic cells and by the in vitro phenotype of hematopoietic progenitor hypersensitivity to granulocyte-macrophage colony-stimulating factor." [HPO:probinson, pmid:18954903] xref: MSH:D054429 xref: SNOMEDCT_US:128832006 xref: SNOMEDCT_US:277587001 xref: SNOMEDCT_US:445227008 xref: UMLS:C0349639 is_a: HP:0012324 ! Myeloid leukemia created_by: peter creation_date: 2013-03-12T12:27:41Z [Term] id: HP:0012210 name: Abnormal renal morphology alt_id: HP:0000792 alt_id: HP:0004726 alt_id: HP:0004735 alt_id: HP:0008712 def: "Any structural anomaly of the kidney." [HPO:probinson] synonym: "Abnormal kidney morphology" EXACT [ORCID:0000-0001-5208-3432] synonym: "Abnormally shaped kidney" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Kidney malformation" EXACT layperson [] synonym: "Kidney structure issue" EXACT layperson [] synonym: "Renal malformation" EXACT [] synonym: "Structural anomalies of the renal tract" EXACT [] synonym: "Structural kidney abnormalities" EXACT layperson [] synonym: "Structural renal anomalies" EXACT [] xref: Fyler:4512 xref: SNOMEDCT_US:44513007 xref: UMLS:C0266292 is_a: HP:0000077 ! Abnormality of the kidney created_by: peter creation_date: 2013-03-14T07:41:11Z [Term] id: HP:0012211 name: Abnormal renal physiology alt_id: HP:0000082 alt_id: HP:0000087 alt_id: HP:0005566 alt_id: HP:0008646 def: "An abnormal functionality of the kidney." [HPO:probinson] synonym: "Abnormal kidney function" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormal renal function" EXACT [HPO:skoehler] synonym: "Abnormality of renal physiology" EXACT [] synonym: "Kidney function issue" EXACT layperson [] synonym: "Renal functional abnormality" EXACT [] xref: SNOMEDCT_US:39539005 xref: UMLS:C0151746 is_a: HP:0000077 ! Abnormality of the kidney is_a: HP:0011277 ! Abnormality of the urinary system physiology created_by: peter creation_date: 2013-03-14T07:43:34Z [Term] id: HP:0012212 name: Abnormal glomerular filtration rate def: "An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time." [HP:probinson, PMID:25710660] comment: Glomerular filtration, the first step in urine formation, is the passive process of ultrafiltration of plasma from blood into Bowman's space as it traverses the glomerular capillaries. Because GFR varies by body size, it is indexed relative to an average body surface area (BSA) of 1.73 m2 and expressed as ml/min/per 1.73 m2. GFR cannot be measured directly; it can be assessed from clearance measurements or estimated from serum levels of endogenous filtration markers, such as creatinine or cystatin C. Clearance measurements require either multiple measurements of serum concentrations or timed urine collections and are not routinely performed. GFR is usually estimated from serum concentrations of a marker of filtration using GFR estimating equations. synonym: "Abnormal GFR" EXACT HP:0045077 [] xref: UMLS:C0854050 is_a: HP:0012211 ! Abnormal renal physiology created_by: peter creation_date: 2013-03-14T07:49:53Z [Term] id: HP:0012213 name: Decreased glomerular filtration rate alt_id: HP:0000120 def: "An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time." [HP:probinson, PMID:25710660] comment: Renal clearance is defined as the volume of plasma per minute needed to excrete the quantity of a solute appearing in the urine in a minute. Normal values for adults are 97 to 137 ml/min (male) and 88 to 128 ml/min (female). This term refers to a reduction below normal limits in the ability of the kidney to clear creatinine from the bloodstream. synonym: "Decreased GFR" EXACT HP:0045077 [] synonym: "Impaired renal creatinine clearance" EXACT [] synonym: "Reduced creatinine clearance" EXACT [] xref: UMLS:C0853068 is_a: HP:0012212 ! Abnormal glomerular filtration rate created_by: peter creation_date: 2013-03-14T07:54:30Z [Term] id: HP:0012214 name: Increased glomerular filtration rate def: "An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time." [HP:probinson] synonym: "Increased GFR" EXACT HP:0045077 [] xref: UMLS:C0856948 is_a: HP:0012212 ! Abnormal glomerular filtration rate created_by: peter creation_date: 2013-03-14T07:55:03Z [Term] id: HP:0012215 name: Testicular microlithiasis def: "The deposition of calcium phosphate microliths within the seminiferous tubules." [HPO:probinson] xref: MSH:C566478 xref: SNOMEDCT_US:117261000119108 xref: UMLS:C1864873 is_a: HP:0000035 ! Abnormal testis morphology created_by: peter creation_date: 2013-03-14T08:07:36Z [Term] id: HP:0012216 name: Entrapment neuropathy of suprascapular nerve def: "An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region." [HPO:probinson] synonym: "Suprascapular nerve entrapment" EXACT [] xref: SNOMEDCT_US:230635000 xref: UMLS:C0393890 is_a: HP:0012181 ! Entrapment neuropathy created_by: peter creation_date: 2013-03-14T08:09:05Z [Term] id: HP:0012217 name: Increased urinary porphobilinogen def: "Increased concentration of porphobilinogen in the urine." [HPO:probinson, pmid:11861450] comment: Increased porphobilinogen (PBG) in urine is pathognomonic of an attack of acute porphyria (acute intermittent porphyria, variegate porphyria, hereditary coproporphyria); the absence of increased urinary PBG in a suspected attack excludes the diagnosis. xref: UMLS:C4023000 is_a: HP:0003110 ! Abnormality of urine homeostasis created_by: peter creation_date: 2013-03-30T06:45:01Z [Term] id: HP:0012218 name: Alveolar soft part sarcoma def: "A type of soft tissue sarcoma with a histological appearance reminiscent of alveoli because of its reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue." [HPO:probinson, pmid:11244503] xref: MSH:D018234 xref: SNOMEDCT_US:404056007 xref: SNOMEDCT_US:88195001 xref: UMLS:C0206657 is_a: HP:0030448 ! Soft tissue sarcoma created_by: peter creation_date: 2013-03-30T06:48:50Z [Term] id: HP:0012219 name: Erythema nodosum def: "An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral." [HPO:probinson] comment: The nodules of erythema nodosum are located predominantly on the shins with less common occurrence on the thighs and forearms. They undergo characteristic color changes ending in temporary bruise-like areas, and usually subside in 3-6 weeks without scarring or atrophy. xref: MSH:D004893 xref: SNOMEDCT_US:32861005 xref: UMLS:C0014743 is_a: HP:0011123 ! Inflammatory abnormality of the skin created_by: peter creation_date: 2013-03-30T06:57:07Z [Term] id: HP:0012220 name: Non-caseating epithelioid cell granulomatosis def: "The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese)." [HPO:probinson] comment: This feature is a hallmark of sarcoidosis. xref: UMLS:C4022999 is_a: HP:0002955 ! Granulomatosis created_by: peter creation_date: 2013-03-30T07:04:43Z [Term] id: HP:0012221 name: Pretibial blistering def: "A type of blistering that affects the skin of the tibial region." [HPO:probinson, pmid:15265795] synonym: "Pretibial epidermolysis bullosa" EXACT [] xref: MSH:C535494 xref: SNOMEDCT_US:67653003 xref: UMLS:C0432321 is_a: HP:0011356 ! Regional abnormality of skin created_by: peter creation_date: 2013-03-30T07:10:17Z [Term] id: HP:0012222 name: Arachnoid hemangiomatosis def: "The presence of multiple hemangiomas in the arachnoid." [HPO:probinson] xref: UMLS:C4022998 is_a: HP:0001028 ! Hemangioma created_by: peter creation_date: 2013-03-30T07:17:01Z [Term] id: HP:0012223 name: Splenic rupture def: "A breach of the capsule of the spleen." [HPO:probinson] synonym: "Ruptured spleen" EXACT layperson [] synonym: "Splenic rupture" EXACT layperson [] xref: MSH:D013161 xref: SNOMEDCT_US:234506007 xref: UMLS:C0038000 is_a: HP:0025408 ! Abnormal spleen morphology created_by: peter creation_date: 2013-03-30T07:23:49Z [Term] id: HP:0012224 name: Circulating immune complexes def: "Persistence of immune complexes in the blood circulation." [HPO:probinson] comment: Immune complexes are formed of interlocking antigens and antibodies and are normally are rapidly removed from the bloodstream by macrophages in the spleen and Kupffer cells in the liver. If they persist abnormally in the circulation, they may become trapped in various tissues and induce inflammatory reactions. xref: UMLS:C3887628 is_a: HP:0005368 ! Abnormality of humoral immunity created_by: peter creation_date: 2013-03-30T07:27:21Z [Term] id: HP:0012225 name: Oligodontia of primary teeth def: "Reduced number of primary teeth." [HPO:probinson] comment: Primary teeth are also called temporary teeth or deciduous teeth. synonym: "Decreased number of baby teeth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased number of deciduous teeth" RELATED [ORCID:0000-0001-5889-4463] synonym: "Decreased number of milk teeth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased number of primary teeth" RELATED [ORCID:0000-0001-5889-4463] synonym: "Failure of development of some deciduous teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of some primary teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Fewer baby teeth than normal" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Fewer deciduous teeth than normal" RELATED [ORCID:0000-0001-5889-4463] synonym: "Fewer primary teeth than normal" RELATED [ORCID:0000-0001-5889-4463] synonym: "Missing some baby teeth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Missing some milk teeth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Missing some primary teeth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Partial anodontia of deciduous teeth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Partial anodontia of primary teeth" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4022997 xref: UMLS:C4280316 is_a: HP:0000677 ! Oligodontia created_by: peter creation_date: 2013-03-30T07:31:16Z [Term] id: HP:0012226 name: Ovarian teratoma def: "The presence of a teratoma in the ovary." [HPO:probinson] xref: NCIT:C3403 xref: SNOMEDCT_US:716077006 xref: UMLS:C0280131 is_a: HP:0009792 ! Teratoma is_a: HP:0100615 ! Ovarian neoplasm created_by: peter creation_date: 2013-03-30T07:34:29Z [Term] id: HP:0012227 name: Urethral stricture def: "Narrowing of the urethra associated with inflammation or scar tissue." [HPO:probinson] comment: A urethral stricture may result from surgery, disease, or injury. The term should not be used for a congenital narrowing of the urethra (Consider the term Urethral stenosis, HP:0008661). xref: MSH:D014525 xref: SNOMEDCT_US:236647003 xref: SNOMEDCT_US:76618002 xref: UMLS:C0041974 is_a: HP:0008661 ! Urethral stenosis created_by: peter creation_date: 2013-03-30T07:37:46Z [Term] id: HP:0012228 name: Tension-type headache def: "A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs." [HPO:probinson] synonym: "Tension-type headache" EXACT layperson [] xref: ICD-10:G44.2 "Tension-type headache" xref: MSH:D018781 xref: SNOMEDCT_US:398057008 xref: SNOMEDCT_US:66551002 xref: UMLS:C0033893 is_a: HP:0002315 ! Headache created_by: peter creation_date: 2013-03-30T07:50:13Z [Term] id: HP:0012229 name: CSF pleocytosis def: "An increased white blood cell count in the cerebrospinal fluid." [HPO:probinson] synonym: "Cerebrospinal fluid pleocytosis" EXACT [] synonym: "Increased leukocyte count in CSF" EXACT [https://orcid.org/0000-0001-5208-3432] xref: MSH:D007964 xref: SNOMEDCT_US:91454002 xref: UMLS:C0151857 is_a: HP:0002921 ! Abnormality of the cerebrospinal fluid created_by: peter creation_date: 2013-03-31T09:01:55Z [Term] id: HP:0012230 name: Rhegmatogenous retinal detachment def: "A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium." [HPO:probinson] xref: SNOMEDCT_US:19620000 xref: UMLS:C0271055 is_a: HP:0000541 ! Retinal detachment created_by: peter creation_date: 2013-03-31T09:20:35Z [Term] id: HP:0012231 name: Exudative retinal detachment def: "A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium." [HPO:probinson, ORCID:0000-0003-0986-4123] synonym: "Serous retinal detachment" EXACT [] xref: SNOMEDCT_US:38599001 xref: UMLS:C0154822 is_a: HP:0000541 ! Retinal detachment created_by: peter creation_date: 2013-03-31T09:24:20Z [Term] id: HP:0012232 name: Shortened QT interval def: "Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG)." [HPO:probinson] xref: SNOMEDCT_US:77867006 xref: UMLS:C0151879 is_a: HP:0031547 ! Abnormal QT interval created_by: peter creation_date: 2013-03-31T09:34:21Z [Term] id: HP:0012233 name: Intramuscular hematoma def: "Blood clot formed within muscle tissue following leakage of blood into the tissue." [HPO:probinson] synonym: "IM hematoma" EXACT HP:0045077 [] synonym: "Intramuscular haematoma" EXACT [] synonym: "Intramuscular hematomas" RELATED [HPO:skoehler] synonym: "Intramuscular hemorrhage" EXACT [] xref: SNOMEDCT_US:262969000 xref: UMLS:C0240412 is_a: HP:0011805 ! Abnormal muscle morphology created_by: peter creation_date: 2013-03-31T09:38:57Z [Term] id: HP:0012234 name: Agranulocytosis def: "Marked decrease in the number of granulocytes." [HPO:probinson] comment: Agranulocytosis is defined as an absolute neutrophil count less than 500 cells/microliter. xref: UMLS:C0702094 is_a: HP:0001913 ! Granulocytopenia created_by: peter creation_date: 2013-03-31T09:42:50Z [Term] id: HP:0012235 name: Drug-induced agranulocytosis def: "A type of agranulocytosis related to ingestion of a specific medication." [HPO:probinson] xref: SNOMEDCT_US:47318007 xref: UMLS:C0272178 is_a: HP:0012234 ! Agranulocytosis created_by: peter creation_date: 2013-03-31T09:44:55Z [Term] id: HP:0012236 name: Elevated sweat chloride def: "An increased concentration of chloride in the sweat." [HPO:probinson] comment: Sweat chloride is notably increased in cystic fibrosis, but also in some other diseases. synonym: "Elevated sweat chloride" EXACT layperson [] synonym: "Elevated sweat Cl" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] synonym: "Elevated sweat Cl-" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] xref: UMLS:C1856646 is_a: HP:0040127 ! Abnormal sweat homeostasis created_by: peter creation_date: 2013-03-31T09:50:28Z [Term] id: HP:0012237 name: Urocanic aciduria def: "An increased concentration of urocanic acid in the urine." [HPO:probinson] synonym: "High urine urocanic acid levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:C536479 xref: SNOMEDCT_US:60952007 xref: UMLS:C0268514 is_a: HP:0040156 ! Elevated urinary carboxylic acid created_by: peter creation_date: 2013-03-31T09:54:48Z [Term] id: HP:0012238 name: Increased circulating chylomicron concentration def: "Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins." [HPO:probinson, MP:0009699] synonym: "Hyperchylomicronemia" EXACT [] synonym: "Increased chylomicrons" EXACT [] synonym: "Increased circulating chylomicron levels" EXACT [] xref: UMLS:C1535978 is_a: HP:0010980 ! Hyperlipoproteinemia is_a: HP:0031887 ! Abnormal chylomicron concentration created_by: peter creation_date: 2013-03-31T04:17:11Z [Term] id: HP:0012239 name: Atransferrinemia def: "Absence of transferrin, a protein that transports iron, in the blood." [HPO:probinson] xref: MSH:C538259 xref: SNOMEDCT_US:111571009 xref: UMLS:C0521802 is_a: HP:0032385 ! Abnormal circulating transferrin level created_by: peter creation_date: 2013-03-31T04:20:43Z [Term] id: HP:0012240 name: Increased intramyocellular lipid droplets def: "An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See pmid 20691590 for histological images." [HPO:probinson, pmid:20691590] comment: In normal muscle cells, lipid content takes the aspect of small droplets which concentration and size are usually higher in type 1 fibres than in type 2 fibres. synonym: "Increased muscle lipid droplets" RELATED [] xref: UMLS:C4020730 is_a: HP:0009058 ! Increased muscle lipid content created_by: peter creation_date: 2013-04-01T05:17:37Z [Term] id: HP:0012241 name: Levator palpebrae superioris atrophy def: "Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid." [HPO:probinson] xref: UMLS:C1851107 is_a: HP:0011805 ! Abnormal muscle morphology is_a: HP:3000072 ! Abnormal levator palpebrae superioris morphology created_by: peter creation_date: 2013-04-02T06:53:20Z [Term] id: HP:0012242 name: Superior rectus atrophy def: "Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe." [HPO:probinson] synonym: "Rectus superior atrophy" EXACT [] xref: UMLS:C1851108 is_a: HP:0008049 ! Abnormality of the extraocular muscles created_by: peter creation_date: 2013-04-02T06:55:22Z [Term] id: HP:0012243 name: Abnormal reproductive system morphology def: "A structural or developmental anomaly of any of the tissues involved in the genital system." [HPO:probinson, MP:0002160] synonym: "Abnormal genital system morphology" EXACT [] xref: UMLS:C4021096 is_a: HP:0000078 ! Abnormality of the genital system created_by: peter creation_date: 2013-04-02T07:02:20Z [Term] id: HP:0012244 name: Abnormal sex determination def: "Anomaly of primary or secondary sexual development or characteristics." [HPO:probinson, MP:0002210] xref: UMLS:C4022996 is_a: HP:0012243 ! Abnormal reproductive system morphology created_by: peter creation_date: 2013-04-02T07:03:45Z [Term] id: HP:0012245 name: Sex reversal def: "Development of the reproductive system is inconsistent with the chromosomal sex." [HPO:probinson, MP:0005652] comment: Sex reversal is present if an XX individual develops phenotypically as a male or if an XY individual develops as a female. xref: UMLS:C4022995 is_a: HP:0012244 ! Abnormal sex determination created_by: peter creation_date: 2013-04-02T07:04:44Z [Term] id: HP:0012246 name: Oculomotor nerve palsy def: "Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve)." [HPO:probinson] synonym: "Oculomotor neuropathy" RELATED [] xref: MSH:D015840 xref: SNOMEDCT_US:388980004 xref: UMLS:C0028866 is_a: HP:0000597 ! Ophthalmoparesis is_a: HP:0001291 ! Abnormal cranial nerve morphology created_by: peter creation_date: 2013-04-02T07:15:18Z [Term] id: HP:0012247 name: Specific anosmia def: "Anosmia for one particular odor." [HPO:probinson] xref: UMLS:C4022994 is_a: HP:0000458 ! Anosmia created_by: peter creation_date: 2013-04-02T07:20:11Z [Term] id: HP:0012248 name: Prolonged PR interval def: "Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex)." [HPO:probinson] comment: In adults, normal values are 120 to 200 ms long. synonym: "Electrocardiographic long PR interval" EXACT [] synonym: "Lengthened PR interval on EKG" EXACT [] xref: SNOMEDCT_US:164947007 xref: UMLS:C0600125 is_a: HP:0031593 ! Abnormal PR interval created_by: peter creation_date: 2013-04-07T08:52:29Z [Term] id: HP:0012249 name: Abnormal ST segment def: "An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment." [HPO:probinson] xref: UMLS:C4022993 is_a: HP:0003115 ! Abnormal EKG created_by: peter creation_date: 2013-04-07T08:56:46Z [Term] id: HP:0012250 name: ST segment depression def: "An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line." [HPO:probinson] xref: SNOMEDCT_US:26141007 xref: SNOMEDCT_US:429622005 xref: UMLS:C0520887 is_a: HP:0012249 ! Abnormal ST segment created_by: peter creation_date: 2013-04-07T08:59:59Z [Term] id: HP:0012251 name: ST segment elevation def: "An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line." [HPO:probinson] comment: ST segment elevation may have multiple causes including myocardial infaction, left ventricular aneurysm, and hyperkalemia. xref: SNOMEDCT_US:164931005 xref: SNOMEDCT_US:76388001 xref: UMLS:C0520886 is_a: HP:0012249 ! Abnormal ST segment created_by: peter creation_date: 2013-04-07T09:03:06Z [Term] id: HP:0012252 name: Abnormal respiratory system morphology def: "A structural anomaly of the respiratory system." [HPO:probinson] xref: Fyler:4235 xref: UMLS:C4022992 is_a: HP:0002086 ! Abnormality of the respiratory system created_by: peter creation_date: 2013-04-07T09:11:09Z [Term] id: HP:0012253 name: Abnormal respiratory epithelium morphology def: "Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi." [HPO:probinson, MP:0010942] xref: UMLS:C4022991 is_a: HP:0012252 ! Abnormal respiratory system morphology created_by: peter creation_date: 2013-04-07T09:12:48Z [Term] id: HP:0012254 name: Ewing sarcoma def: "A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones." [HPO:probinson, pmid:17272319] comment: Histologically, Ewing's sarcoma is composed of a homogeneous population of small round cells with high nuclear to cytoplasmic ratios that are arrayed in sheets. There is scant cytoplasms, which is pale, vacuolated and characterized by faded boundaries. In contrast, the nuclei are clearly visualized by their intense color. Mitotic activity is typically low. synonym: "Ewing sarcoma" EXACT [] synonym: "Ewing's sarcoma" EXACT [] xref: MSH:D012512 xref: SNOMEDCT_US:76909002 xref: UMLS:C0553580 is_a: HP:0100242 ! Sarcoma created_by: peter creation_date: 2013-04-07T01:54:14Z [Term] id: HP:0012255 name: Dynein arm defect of respiratory motile cilia def: "An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy." [HPO:probinson, pmid:19606528] comment: The peripheral microtubules in the canonical 9 + 2 microtubular pattern of motile cilia are studded with dynein arms that contain adenosine triphosphatases and act as molecular motors to effect the sliding of the peripheral microtubular pairs relative to one another. xref: UMLS:C4022990 is_a: HP:0005938 ! Abnormal respiratory motile cilium morphology created_by: peter creation_date: 2013-04-07T09:20:03Z [Term] id: HP:0012256 name: Absent outer dynein arms def: "Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy." [HPO:probinson, pmid:19606528] xref: UMLS:C4022989 is_a: HP:0200106 ! Absent/shortened dynein arms created_by: peter creation_date: 2013-04-07T09:35:55Z [Term] id: HP:0012257 name: Absent inner dynein arms def: "Absence of the outer dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy." [HPO:probinson, pmid:19606528] xref: UMLS:C4022988 is_a: HP:0200106 ! Absent/shortened dynein arms created_by: peter creation_date: 2013-04-07T09:38:46Z [Term] id: HP:0012258 name: Abnormal axonemal organization of respiratory motile cilia def: "Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9 + 2 microtubular pattern of motile cilia studded with dynein arms." [HPO:probinson, pmid:19606528] comment: Abnormal axonemal organization comprises anomalies such as an eccentric central pair of microtubuli, abnormal radial spokes and nexin links, reduced number of inner dynein arms, and displacement of the outer doublet. xref: UMLS:C4022987 is_a: HP:0005938 ! Abnormal respiratory motile cilium morphology created_by: peter creation_date: 2013-04-07T09:49:56Z [Term] id: HP:0012259 name: Absent inner and outer dynein arms def: "Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy." [HPO:probinson, pmid:19606528] xref: UMLS:C4022986 is_a: HP:0012256 ! Absent outer dynein arms is_a: HP:0012257 ! Absent inner dynein arms created_by: peter creation_date: 2013-04-07T09:40:14Z [Term] id: HP:0012260 name: Abnormal central microtubular pair morphology of respiratory motile cilia def: "A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration." [HPO:probinson, pmid:19200523] comment: The central microtubular pair is referred to as the central part of axoneme of cilium. xref: UMLS:C4022985 is_a: HP:0005938 ! Abnormal respiratory motile cilium morphology created_by: peter creation_date: 2013-04-07T09:58:27Z [Term] id: HP:0012261 name: Abnormal respiratory motile cilium physiology def: "Any functional anomaly of the respiratory motile cilia." [HPO:probinson, MP:0011055] comment: Abnormal respiratory motile cilium physiology may include alterations in ciliary beating pattern or frequency. xref: UMLS:C4022984 is_a: HP:0002795 ! Functional respiratory abnormality created_by: peter creation_date: 2013-04-07T10:05:43Z [Term] id: HP:0012262 name: Abnormal ciliary motility def: "Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions." [HPO:probinson, pmid:19606528, pmid:20301301] comment: Ciliated epithelial cells bear approximately 200 motile (9 + 2) cilia that move with both intracellular and intercellular synchrony. The pattern of beat in 9 + 2 motile cilia occurs in a waveform having a forward effective stroke followed by a return stroke. The direction of stroke is a function of the directional orientation of the central microtubules. In addition to moving in synchrony, individual cilia in normal cells are very plastic and move fluidly, sometimes deforming briefly upon encountering resistance and/or particles being transported over the mucosal surface. Cilia are embedded in a watery periciliary fluid of low viscosity, which facilitates the rapid beat cycle to move the more viscous overlying layer of mucus. Ciliary beat frequency ranges from approximately 8-20 Hz under normal conditions but may be accelerated by exposure to irritants such as tobacco smoke. xref: UMLS:C4022983 is_a: HP:0012261 ! Abnormal respiratory motile cilium physiology created_by: peter creation_date: 2013-04-07T10:10:35Z [Term] id: HP:0012263 name: Immotile cilia xref: UMLS:C1855672 is_a: HP:0012262 ! Abnormal ciliary motility created_by: peter creation_date: 2013-04-07T10:11:17Z [Term] id: HP:0012264 name: Absent central microtubular pair morphology of respiratory motile cilia def: "Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration." [HPO:probinson] xref: UMLS:C4022982 is_a: HP:0005938 ! Abnormal respiratory motile cilium morphology created_by: peter creation_date: 2013-04-07T10:12:06Z [Term] id: HP:0012265 name: Ciliary dyskinesia def: "A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia." [HPO:probinson, pmid:19606528] comment: Typically, but not always, dyskinesia is characterized by markedly attenuated ciliary beat frequency. xref: MSH:D002925 xref: SNOMEDCT_US:86204009 xref: UMLS:C0008780 is_a: HP:0012262 ! Abnormal ciliary motility created_by: peter creation_date: 2013-04-07T10:14:07Z [Term] id: HP:0012266 name: T-wave alternans def: "A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG." [HPO:probinson, pmid:17592081] xref: SNOMEDCT_US:428550008 xref: UMLS:C1998313 is_a: HP:0005135 ! Abnormal T-wave created_by: peter creation_date: 2013-04-07T10:23:08Z [Term] id: HP:0012267 name: Absent respiratory ciliary axoneme radial spokes def: "Absence of the radial spokes of the axoneme of the respiratory cilium." [HPO:probinson, pmid:19606528] xref: UMLS:C4022981 is_a: HP:0005938 ! Abnormal respiratory motile cilium morphology created_by: peter creation_date: 2013-04-07T01:56:53Z [Term] id: HP:0012268 name: Myxoid liposarcoma def: "A liposarcoma that contains myxomatous tissue." [HPO:probinson] xref: MSH:D018208 xref: SNOMEDCT_US:27849002 xref: SNOMEDCT_US:404069006 xref: UMLS:C0206634 is_a: HP:0012034 ! Liposarcoma created_by: peter creation_date: 2013-04-07T01:59:19Z [Term] id: HP:0012269 name: Abnormal muscle glycogen content def: "Any anomaly in the amount of glycogen in muscle tissue." [HPO:probinson] comment: Glycogen functions as a secondary short term energy storage in muscle. xref: UMLS:C4022980 is_a: HP:0004303 ! Abnormal muscle fiber morphology created_by: peter creation_date: 2013-04-07T02:04:03Z [Term] id: HP:0012270 name: Decreased muscle glycogen content def: "A decreased amount of glycogen in muscle tissue." [HPO:probinson] xref: UMLS:C4022979 is_a: HP:0012269 ! Abnormal muscle glycogen content created_by: peter creation_date: 2013-04-07T02:05:15Z [Term] id: HP:0012271 name: Episodic upper airway obstruction def: "Intermittent episodes of increased resistance to the passage of air in the upper airway." [HPO:probinson] xref: UMLS:C4022978 is_a: HP:0002781 ! Upper airway obstruction created_by: peter creation_date: 2013-04-07T02:08:33Z [Term] id: HP:0012272 name: J wave def: "The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point." [HPO:probinson, pmid:19561994] comment: J waves can be seen in hypothermia when the core body temperature falls below 32 degrees C. Then, they occur most prominently in the inferior leads: II, III, and aVF and the precordial leads: V5-V6. J waves can also be observed in other conditions such as some forms of Brugada syndrome. synonym: "EKG J waves" EXACT [] synonym: "Osborne waves" EXACT [] xref: UMLS:C4018858 is_a: HP:0003115 ! Abnormal EKG created_by: peter creation_date: 2013-04-07T02:11:05Z [Term] id: HP:0012273 name: Increased carotid artery intimal medial thickness def: "An increase in the combined thickness of the intima and media of the carotid artery." [HPO:probinson, pmid:9878640] comment: This feature can be measured by ultrasonography and is thought to be a risk foctor for myocardial infarction and stroke. xref: UMLS:C4022977 is_a: HP:0005344 ! Abnormal carotid artery morphology created_by: peter creation_date: 2013-04-07T02:16:23Z [Term] id: HP:0012274 name: Autosomal dominant inheritance with paternal imprinting def: "A type of autosomal dominant inheritance involving a gene that is imprinted with paternal silencing." [HPO:probinson, pmid:18678320] comment: Since the paternally inherited copy of such genes is silenced normally, only a maternally transmitted mutation leads to disease in this kind of inheritance. xref: UMLS:C4022976 is_a: HP:0000006 ! Autosomal dominant inheritance created_by: peter creation_date: 2013-04-07T02:19:07Z [Term] id: HP:0012275 name: Autosomal dominant inheritance with maternal imprinting def: "A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing." [HPO:probinson] comment: Since the maternally inherited copy of such genes is silenced normally, only a paternally transmitted mutation leads to disease in this kind of inheritance. xref: UMLS:C4022975 is_a: HP:0000006 ! Autosomal dominant inheritance created_by: peter creation_date: 2013-04-07T02:54:09Z [Term] id: HP:0012276 name: Digital flexor tenosynovitis def: "Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit." [HPO:probinson, PMID:16443118] comment: Tenosynovitis refers to inflammation of the protective sheath that surrounds a tendon. Stenosing tenosynovitis, or trigger finger, is diagnosed when a patient presents with a symptomatic locking or clicking of a finger or the thumb. It is caused by a mismatch between the volume of the flexor tendon sheath and its contents. As the flexor tendon attempts to glide through a relatively stenotic sheath, it catches, producing an inability to flex or extend the digit smoothly. synonym: "Trigger finger" EXACT layperson [] xref: UMLS:C4022974 is_a: HP:0100261 ! Abnormal tendon morphology created_by: peter creation_date: 2013-04-07T03:02:33Z [Term] id: HP:0012277 name: Hypoglycinemia def: "An abnormally reduced concentration of glycine in the blood." [HPO:probinson] synonym: "Low blood glycine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022973 is_a: HP:0010895 ! Abnormal circulating glycine concentration created_by: peter creation_date: 2013-04-07T03:54:41Z [Term] id: HP:0012278 name: Abnormal circulating serine concentration def: "Any deviation from the normal concentration of serine in the blood circulation." [HPO:probinson] xref: UMLS:C4022972 is_a: HP:0010894 ! Abnormal circulating serine family amino acid concentration created_by: peter creation_date: 2013-04-07T03:57:10Z [Term] id: HP:0012279 name: Hyposerinemia def: "Reduced concentration of serine in the blood." [HPO:probinson] synonym: "Low blood serine levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022971 is_a: HP:0012278 ! Abnormal circulating serine concentration created_by: peter creation_date: 2013-04-07T03:57:25Z [Term] id: HP:0012280 name: Hepatic amyloidosis def: "A form of amyloidosis that affects the liver." [HPO:probinson] xref: SNOMEDCT_US:9551004 xref: UMLS:C0267839 is_a: HP:0011034 ! Amyloidosis is_a: HP:0410042 ! Abnormal liver morphology created_by: peter creation_date: 2013-04-07T03:59:46Z [Term] id: HP:0012281 name: Chylous ascites def: "Extravasation of chyle into the peritoneal cavity." [HPO:probinson] synonym: "Chyloperitoneum" EXACT [] xref: MSH:D002915 xref: SNOMEDCT_US:52985009 xref: UMLS:C0008732 is_a: HP:0001541 ! Ascites created_by: peter creation_date: 2013-04-07T04:08:42Z [Term] id: HP:0012282 name: Morbilliform rash def: "An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days." [HPO:probinson] comment: A morbilliform rash is said to resemble the rash of measles, rubella or scarlet fever, thus mimicking viral and bacterial exanthemas. xref: SNOMEDCT_US:247470007 xref: SNOMEDCT_US:50495000 xref: UMLS:C0234918 is_a: HP:0000988 ! Skin rash created_by: peter creation_date: 2013-04-07T10:11:58Z [Term] id: HP:0012283 name: Small distal femoral epiphysis def: "Reduced size of the Distal epiphysis of femur." [HPO:probinson] synonym: "Small end part of outermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022970 is_a: HP:0010590 ! Abnormality of the distal femoral epiphysis created_by: peter creation_date: 2013-04-09T07:33:19Z [Term] id: HP:0012284 name: Small proximal tibial epiphyses def: "Reduced size of the proximal epiphysis of the tibia." [HPO:probinson] synonym: "Small end part of innermost shankbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Small end part of innermost shinbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022969 is_a: HP:0010585 ! Small epiphyses is_a: HP:0010591 ! Abnormality of the proximal tibial epiphysis created_by: peter creation_date: 2013-04-09T07:36:38Z [Term] id: HP:0012285 name: Abnormal hypothalamus physiology def: "An abnormal functionality of the hypothalamus." [HPO:probinson] comment: The hypothalamus is linked vascularly with the anterior lobe of the pituitary gland and thereby controls the secretion of pituitary hormones. xref: UMLS:C4022968 is_a: HP:0000864 ! Abnormality of the hypothalamus-pituitary axis is_a: HP:0010662 ! Abnormality of the diencephalon is_a: HP:0012638 ! Abnormality of nervous system physiology created_by: peter creation_date: 2013-04-09T07:51:07Z [Term] id: HP:0012286 name: Abnormal hypothalamus morphology alt_id: HP:0002443 def: "Any structural anomaly of the hypothalamus." [HPO:probinson] comment: The hypothalamus is a cone-shaped cerebral structure that projects downward, ending in the pituitary (infundibular) stalk, a tubular connection to the pituitary gland. It is linked vascularly with the anterior lobe of the pituitary gland and thereby controls the secretion of pituitary hormones. synonym: "Abnormal shape of hypothalamus" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of hypothalamus morphology" EXACT [] synonym: "Abnormality of the hypothalamus" EXACT [] xref: UMLS:C4021095 is_a: HP:0010662 ! Abnormality of the diencephalon created_by: peter creation_date: 2013-04-09T07:53:16Z [Term] id: HP:0012287 name: Hypothalamic luteinizing hormone-releasing hormone deficiency def: "Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus." [HPO:probinson] xref: UMLS:C4022967 is_a: HP:0012285 ! Abnormal hypothalamus physiology created_by: peter creation_date: 2013-04-09T07:54:46Z [Term] id: HP:0012288 name: Neoplasm of head and neck def: "A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx." [HPO:probinson] synonym: "Head and neck cancer" RELATED [] synonym: "Head and neck tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D006258 xref: SNOMEDCT_US:255055008 xref: SNOMEDCT_US:255056009 xref: UMLS:C0018671 xref: UMLS:C0278996 is_a: HP:0011793 ! Neoplasm by anatomical site created_by: peter creation_date: 2013-04-11T05:44:24Z [Term] id: HP:0012289 name: Facial neoplasm def: "A tumor (abnormal growth of tissue) of the face." [HPO:probinson] synonym: "Face tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D005153 xref: NCIT:C3262 xref: SNOMEDCT_US:126632002 xref: UMLS:C0015461 is_a: HP:0012288 ! Neoplasm of head and neck created_by: peter creation_date: 2013-04-11T05:46:35Z [Term] id: HP:0012290 name: Mouth neoplasm def: "A tumor (abnormal growth of tissue) of the mouth." [HPO:probinson] synonym: "Mouth tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D009062 xref: NCIT:C3262 xref: SNOMEDCT_US:126797001 xref: SNOMEDCT_US:235075007 xref: UMLS:C0026640 is_a: HP:0012288 ! Neoplasm of head and neck created_by: peter creation_date: 2013-04-11T05:48:12Z [Term] id: HP:0012291 name: obsolete Tracheal neoplasm is_obsolete: true replaced_by: HP:0100551 created_by: peter creation_date: 2013-04-11T05:49:21Z [Term] id: HP:0012292 name: Fusion of gums def: "A congenital defect with an abnormal joining of the gums of the upper and lower jaw." [HPO:probinson, pmid:19858676] synonym: "Fusion of gums" EXACT layperson [] synonym: "Fusion of the gingiva" EXACT [ORCID:0000-0001-5889-4463] synonym: "Gingival synechia" EXACT [ORCID:0000-0001-5889-4463] synonym: "Partial fusion of the gums" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Synechia of the gums" EXACT [ORCID:0000-0001-5889-4463] synonym: "Upper and lower gums fused together" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4022966 is_a: HP:0000168 ! Abnormality of the gingiva created_by: peter creation_date: 2013-04-11T05:52:35Z [Term] id: HP:0012293 name: Abnormal genital pigmentation def: "An abnormal pigmentation pattern of the external genitalia." [HPO:probinson] xref: UMLS:C4022965 is_a: HP:0000811 ! Abnormal external genitalia created_by: peter creation_date: 2013-04-11T06:02:08Z [Term] id: HP:0012294 name: Abnormality of the occipital bone def: "Abnormality of the occipital bone of the skull." [HPO:probinson] xref: UMLS:C4022964 is_a: HP:0000929 ! Abnormal skull morphology created_by: peter creation_date: 2013-04-11T06:21:12Z [Term] id: HP:0012295 name: Slender middle phalanx of finger def: "Reduced diameter of the middle phalanx of finger." [HPO:probinson] synonym: "Slender middle bone of finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022963 is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand created_by: peter creation_date: 2013-04-12T05:40:22Z [Term] id: HP:0012296 name: Slender distal phalanx of finger def: "Reduced diameter of the distal phalanx of finger." [HPO:probinson] synonym: "Slender outermost bone of finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022962 is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger created_by: peter creation_date: 2013-04-12T05:42:46Z [Term] id: HP:0012297 name: Slender proximal phalanx of finger def: "Reduced diameter of the proximal phalanx of finger." [HPO:probinson] synonym: "Slender innermost bone of finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022961 is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand created_by: peter creation_date: 2013-04-12T05:45:35Z [Term] id: HP:0012298 name: Long middle phalanx of finger def: "Increased length of the middle phalanx of finger." [HPO:probinson] synonym: "Long middle bone of finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022960 is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand created_by: peter creation_date: 2013-04-12T05:46:43Z [Term] id: HP:0012299 name: Long distal phalanx of finger def: "Increased length of the distal phalanx of finger." [HPO:probinson] synonym: "Long outermost bone of finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021865 is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger created_by: peter creation_date: 2013-04-12T05:48:52Z [Term] id: HP:0012300 name: Ureteral agenesis def: "Failure of the ureter to undergo development." [HPO:probinson] xref: UMLS:C4022959 is_a: HP:0025633 ! Abnormal ureter morphology created_by: peter creation_date: 2013-04-13T06:00:10Z [Term] id: HP:0012301 name: Type II transferrin isoform profile def: "Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation." [HPO:probinson, pmid:15105360, pmid:22516080] comment: There are several methods in use with which this feature can be diagnosed. Using HPLC analysis increased mono- and trisialotransferrin and reduced tetrasialotransferrin are observed. Using immunoaffinity column analysis, the tri-sialo/di-oligosaccharide transferrin ratio is abnormal. synonym: "Abnormal isoelectric focusing of serum transferrin, type 2 pattern" RELATED [] synonym: "Abnormal isoelectric focusing of serum transferrin, type II pattern" EXACT [] synonym: "Isoelectric focusing of serum transferrin consistent with CDG type II" EXACT [] synonym: "Type 2 transferrin isoform profile" EXACT [] xref: UMLS:C4021094 is_a: HP:0003160 ! Abnormal isoelectric focusing of serum transferrin created_by: peter creation_date: 2013-04-14T08:55:20Z [Term] id: HP:0012302 name: Herpes simplex encephalitis def: "A severe virus infection of the central nervous system by the herpes simplex virus (HSV)." [HPO:probinson] comment: Although infection with HSV is very common in the population, only a miniscule proportion of infected persons develop encephalitis, so that an occurrence of HSV encephalitis is interpreted as a sign of increased susceptibility to HSV. xref: MSH:D020803 xref: SNOMEDCT_US:428638009 xref: UMLS:C0276226 is_a: HP:0032101 ! Unusual infection created_by: peter creation_date: 2013-04-14T02:43:10Z [Term] id: HP:0012303 name: Abnormal aortic arch morphology def: "An anomaly of the arch of aorta." [HPO:probinson] synonym: "Abnormality of the aortic arch" EXACT [] xref: Fyler:2700 xref: SNOMEDCT_US:448742006 xref: UMLS:C3163801 is_a: HP:0001679 ! Abnormal aortic morphology created_by: peter creation_date: 2013-08-06T10:06:07Z [Term] id: HP:0012304 name: Hypoplastic aortic arch def: "Underdevelopment of the arch of aorta." [HPO:probinson] synonym: "Aortic arch hypoplasia" EXACT [] synonym: "Underdeveloped aortic arch" EXACT layperson [ORCID:0000-0001-5208-3432] xref: Fyler:2704 xref: SNOMEDCT_US:60787001 xref: UMLS:C0265881 is_a: HP:0012303 ! Abnormal aortic arch morphology created_by: peter creation_date: 2013-08-06T10:10:36Z [Term] id: HP:0012305 name: Coarctation of the descending aortic arch def: "Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta." [HPO:probinson] xref: UMLS:C4022958 is_a: HP:0001680 ! Coarctation of aorta is_a: HP:0012303 ! Abnormal aortic arch morphology created_by: peter creation_date: 2013-08-06T10:34:15Z [Term] id: HP:0012306 name: Abnormal rib ossification def: "An anomaly of the process of rib bone formation." [HPO:probinson] synonym: "Abnormal maturation of rib bones" RELATED layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022957 is_a: HP:0000772 ! Abnormality of the ribs is_a: HP:0003336 ! Abnormal enchondral ossification created_by: peter creation_date: 2013-08-10T09:31:03Z [Term] id: HP:0012307 name: Spatulate ribs def: "Ribs that are increased in width and taper to the posterior ends." [HPO:probinson, pmid:20504305] comment: This morphological anomaly of the rib has been compared to a canoe panel or a spatula, whence the name. xref: UMLS:C1856637 is_a: HP:0000885 ! Broad ribs created_by: peter creation_date: 2013-08-10T10:15:15Z [Term] id: HP:0012308 name: Decreased serum complement C9 def: "A reduced level of the complement component C9 in circulation." [https://emedicine.medscape.com/article/135478-overview] synonym: "Decreased serum C9" EXACT [] xref: UMLS:C4021093 is_a: HP:0004431 ! Complement deficiency created_by: peter creation_date: 2013-08-10T11:07:25Z [Term] id: HP:0012309 name: Cutaneous amyloidosis def: "The presence of amyloid deposition in the superficial dermis." [HPO:probinson, pmid:19690585] xref: MSH:C562642 xref: SNOMEDCT_US:201337008 xref: SNOMEDCT_US:281882003 xref: SNOMEDCT_US:282834007 xref: SNOMEDCT_US:718105008 xref: UMLS:C0268397 is_a: HP:0011034 ! Amyloidosis created_by: peter creation_date: 2013-08-10T11:59:57Z [Term] id: HP:0012310 name: Abnormal monocyte count def: "An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." [HPO:probinson] synonym: "Abnormal monocyte number" EXACT [] xref: SNOMEDCT_US:165540007 xref: SNOMEDCT_US:165541006 xref: UMLS:C0580319 is_a: HP:0011893 ! Abnormal leukocyte count is_a: HP:0012144 ! Abnormality monocyte morphology created_by: peter creation_date: 2013-08-10T12:07:14Z [Term] id: HP:0012311 name: Monocytosis def: "An increased number of circulating monocytes." [HPO:probinson] synonym: "High blood monocyte number" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:19636003 xref: UMLS:C0085702 is_a: HP:0012310 ! Abnormal monocyte count created_by: peter creation_date: 2013-08-10T12:09:16Z [Term] id: HP:0012312 name: Monocytopenia def: "An decreased number of circulating monocytes." [HPO:probinson] synonym: "Low blood monocyte number" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:165539005 xref: UMLS:C0427544 is_a: HP:0012310 ! Abnormal monocyte count created_by: peter creation_date: 2013-08-10T12:10:07Z [Term] id: HP:0012313 name: Heberden's node def: "Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically." [HPO:probinson, pmid:10531070, PMID:17488856, pmid:9709182] comment: Heberden's nodes are nodular deformities at the distal interphalangeal joint of the fingers (usually the middle and index) and are commonly seen in the elderly. The deformity is created by osteophyte formation and synovial thickening at the margin ofan osteoarthritic joint. Significant functional problems are rarely encountered though patients may suffer with stiffness and pain. Surgical intervention is seldom indicated unless there is severe pain or instability. In such cases, a joint fusion may be appropriate. xref: SNOMEDCT_US:371598009 xref: UMLS:C0018862 is_a: HP:0006247 ! Enlarged interphalangeal joints created_by: peter creation_date: 2013-08-10T12:19:59Z [Term] id: HP:0012314 name: Bouchard's node def: "Bony swelling of the proximal interphalangeal joint (PIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically." [HPO:probinson, pmid:10531070, pmid:9709182] comment: Heberden's nodes are generally a sign of osteoarthritis. xref: SNOMEDCT_US:20243008 xref: UMLS:C0263780 is_a: HP:0006247 ! Enlarged interphalangeal joints created_by: peter creation_date: 2013-08-10T12:27:25Z [Term] id: HP:0012315 name: Histiocytoma def: "A neoplasm containing histiocytes." [HPO:probinson] xref: MSH:D051642 xref: SNOMEDCT_US:128741006 xref: SNOMEDCT_US:302843004 xref: UMLS:C1509147 is_a: HP:0012316 ! Fibrous tissue neoplasm created_by: peter creation_date: 2013-08-10T12:30:05Z [Term] id: HP:0012316 name: Fibrous tissue neoplasm def: "Any neoplasm composed of fibrous tissue." [HPO:probinson] xref: MSH:D018218 xref: UMLS:C0206643 is_a: HP:0011792 ! Neoplasm by histology created_by: peter creation_date: 2013-08-10T12:31:38Z [Term] id: HP:0012317 name: Sacroiliac arthritis def: "Inflammation of the sacroiliac joint, generally accompanied by lower back pain." [HPO:probinson] synonym: "Sacroiliitis" EXACT [] xref: MSH:C563037 xref: UMLS:C0748473 is_a: HP:0002758 ! Osteoarthritis is_a: HP:0100781 ! Abnormality of the sacroiliac joint created_by: peter creation_date: 2013-08-10T12:58:43Z [Term] id: HP:0012318 name: Occipital neuralgia def: "A distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side." [HPO:probinson, pmid:21569290] comment: Typically, the pain of occipital neuralgia begins at the base of the head and spreads upward within the distribution of the greater and lesser occipital nerves. Characteristically, it is neuropathic, with paroxysmal episodes of shooting electric shock-like symptoms. xref: SNOMEDCT_US:71760005 xref: UMLS:C0007863 is_a: HP:0002315 ! Headache created_by: peter creation_date: 2013-08-10T01:07:45Z [Term] id: HP:0012319 name: Absent pigmentation of the abdomen def: "Lack of skin pigmentation (coloring) of the abdomen." [HPO:probinson] xref: UMLS:C4022956 is_a: HP:0200098 ! Absent skin pigmentation created_by: peter creation_date: 2013-08-10T08:21:54Z [Term] id: HP:0012320 name: Absent pigmentation of the limbs def: "Lack of skin pigmentation (coloring) of the arms and legs." [HPO:probinson] xref: UMLS:C4022955 is_a: HP:0200098 ! Absent skin pigmentation created_by: peter creation_date: 2013-08-10T08:22:30Z [Term] id: HP:0012321 name: D-2-hydroxyglutaric aciduria def: "An increased concentration of 2-hydroxyglutaric acid in the urine." [HPO:probinson, pmid:20847235] xref: SNOMEDCT_US:237960000 xref: UMLS:C1833429 is_a: HP:0032278 ! 2-hydroxyglutarate aciduria created_by: peter creation_date: 2013-08-11T08:46:46Z [Term] id: HP:0012322 name: Perifolliculitis def: "Inflammation surrounding hair follicles." [HPO:probinson] synonym: "Perifollicular inflammation" EXACT [] xref: SNOMEDCT_US:83341004 xref: UMLS:C0263006 is_a: HP:0011123 ! Inflammatory abnormality of the skin created_by: peter creation_date: 2013-08-11T09:25:58Z [Term] id: HP:0012323 name: Sleep myoclonus def: "Myoclonus that occurs during the initial phases of sleep." [HPO:probinson] xref: MSH:D009207 xref: SNOMEDCT_US:34101000119105 xref: UMLS:C0751352 is_a: HP:0001336 ! Myoclonus created_by: peter creation_date: 2013-08-11T10:21:47Z [Term] id: HP:0012324 name: Myeloid leukemia def: "A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow." [HPO:probinson] xref: MSH:D007951 xref: SNOMEDCT_US:128934006 xref: SNOMEDCT_US:188732008 xref: SNOMEDCT_US:37810007 xref: UMLS:C0023470 is_a: HP:0001909 ! Leukemia created_by: peter creation_date: 2013-08-12T06:38:18Z [Term] id: HP:0012325 name: Chronic myelomonocytic leukemia def: "A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement." [NCIT:C3178] xref: MSH:D015477 xref: SNOMEDCT_US:127225006 xref: SNOMEDCT_US:128831004 xref: UMLS:C0023480 is_a: HP:0012324 ! Myeloid leukemia created_by: peter creation_date: 2013-08-12T06:45:11Z [Term] id: HP:0012326 name: Abnormal celiac artery morphology def: "An anomaly of the celiac artery." [HPO:probinson] comment: The celiac artery (celiac trunk or truncus coeliacus) is the first major branch of the abdominal aorta. synonym: "Abnormality of the celiac artery" EXACT [] xref: UMLS:C4022954 is_a: HP:0011004 ! Abnormal systemic arterial morphology created_by: peter creation_date: 2013-08-12T08:47:21Z [Term] id: HP:0012327 name: Celiac artery compression def: "Compression of the celiac artery." [HPO:probinson] comment: This feature may be characterized by abdominal pain related to compression of the celiac artery by fibers of the median arcuate ligament. synonym: "Celiac axis syndrome" RELATED [] synonym: "Dunbar syndrome" RELATED [] synonym: "Median arcuate ligament syndrome" RELATED [] xref: SNOMEDCT_US:9250002 xref: UMLS:C0152098 xref: UMLS:C4020693 is_a: HP:0012326 ! Abnormal celiac artery morphology created_by: peter creation_date: 2013-08-12T08:49:18Z [Term] id: HP:0012328 name: Cementoma def: "An odontogenic tumor of the cementum of tooth." [HPO:probinson] xref: MSH:D002485 xref: SNOMEDCT_US:23255001 xref: SNOMEDCT_US:37258009 xref: UMLS:C0007659 is_a: HP:0100612 ! Odontogenic neoplasm created_by: peter creation_date: 2013-08-12T08:55:10Z [Term] id: HP:0012329 name: Tufted angioma def: "A vascular tumor of the skin and subcutaneous tissues and characterized by slow angiomatous proliferation." [HPO:probinson, pmid:2644316] synonym: "Angioblastoma" EXACT [] synonym: "Angioblastoma of Nakagawa" EXACT [] synonym: "Hypertrophic hemangioma" EXACT [] synonym: "Progressive capillary hemangioma" EXACT [] synonym: "Tufted hemangioma" EXACT [] xref: MSH:C536924 xref: SNOMEDCT_US:254786000 xref: SNOMEDCT_US:705155008 xref: UMLS:C0346073 is_a: HP:0001028 ! Hemangioma created_by: peter creation_date: 2013-08-12T08:57:58Z [Term] id: HP:0012330 name: Pyelonephritis def: "An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices." [HPO:probinson] comment: Pyelonephritis may be unilateral or bilateral and is often characterized by abdominal pain, fever, nausea, and vomiting. xref: MSH:D011704 xref: SNOMEDCT_US:45816000 xref: UMLS:C0034186 is_a: HP:0000123 ! Nephritis created_by: peter creation_date: 2013-09-13T07:37:08Z [Term] id: HP:0012331 name: Abnormal autonomic nervous system morphology def: "A structural abnormality of the autonomic nervous system." [HPO:probinson] xref: UMLS:C4022953 is_a: HP:0002270 ! Abnormality of the autonomic nervous system created_by: peter creation_date: 2013-09-13T07:52:31Z [Term] id: HP:0012332 name: Abnormal autonomic nervous system physiology alt_id: HP:0002271 alt_id: HP:0002387 alt_id: HP:0002459 alt_id: HP:0007310 def: "A functional abnormality of the autonomic nervous system." [HPO:probinson] synonym: "Autonomic dysfunction" EXACT [] synonym: "Autonomic dysregulation" EXACT [] synonym: "Dysautonomia" EXACT [] xref: UMLS:C4022952 is_a: HP:0002270 ! Abnormality of the autonomic nervous system created_by: peter creation_date: 2013-09-13T07:53:55Z [Term] id: HP:0012333 name: Abnormal sudomotor regulation def: "An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration." [HPO:probinson] comment: Normally, the cholinergic innervation via the sympathetic nervous system activates muscarinic acetylcholine receptors in sweat glands, thereby leading to perspiration. This terms refers to an abnormally increased or decreased activity of this system. synonym: "Sudomotor sympathetic dysfunction" EXACT [] xref: UMLS:C4021092 is_a: HP:0012332 ! Abnormal autonomic nervous system physiology created_by: peter creation_date: 2013-09-13T08:04:38Z [Term] id: HP:0012334 name: Extrahepatic cholestasis def: "Impairment of bile flow due to obstruction in large bile ducts outside the liver." [HPO:probinson] xref: MSH:D001651 xref: SNOMEDCT_US:20719006 xref: SNOMEDCT_US:8262006 xref: UMLS:C0005398 is_a: HP:0001396 ! Cholestasis created_by: peter creation_date: 2013-09-13T08:13:48Z [Term] id: HP:0012335 name: Abnormality of folate metabolism def: "An abnormality of the metabolism of folic acid, which is also known as vitamin B9." [HPO:probinson] xref: UMLS:C4022951 is_a: HP:0004340 ! Abnormality of vitamin B metabolism created_by: peter creation_date: 2013-09-13T08:38:06Z [Term] id: HP:0012336 name: Reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration def: "A decreased concentration of 5-methyltetrahydrofolate in the cerebrospinal fluid." [HPO:probinson] synonym: "Reduced CSF 5-methyltetrahydrofolate concentration" EXACT HP:0045077 [] xref: UMLS:C4021091 is_a: HP:0012335 ! Abnormality of folate metabolism created_by: peter creation_date: 2013-09-13T08:39:17Z [Term] id: HP:0012337 name: Abnormal homeostasis def: "An anomaly in the processes involved in the maintenance of an internal equilibrium." [HPO:probinson] xref: MP:0001764 "Abnormal homeostasis" xref: UMLS:C4022950 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis created_by: peter creation_date: 2013-09-13T09:23:23Z [Term] id: HP:0012338 name: Abnormal energy expenditure def: "Any anomaly in the utilization of energy (calories)." [HPO:probinson] synonym: "Abnormal energy expenditure" EXACT layperson [] xref: UMLS:C4022949 is_a: HP:0012337 ! Abnormal homeostasis created_by: peter creation_date: 2013-09-13T09:24:54Z [Term] id: HP:0012339 name: Increased resting energy expenditure def: "An increase in the number of calories used per unit time." [HPO:probinson] xref: UMLS:C4022948 is_a: HP:0012338 ! Abnormal energy expenditure created_by: peter creation_date: 2013-09-13T09:25:29Z [Term] id: HP:0012340 name: Decreased resting energy expenditure def: "A reduction in the number of calories used per unit time." [HPO:probinson] xref: UMLS:C4022947 is_a: HP:0012338 ! Abnormal energy expenditure created_by: peter creation_date: 2013-09-13T09:27:05Z [Term] id: HP:0012341 name: Microprolactinoma def: "A pituitary prolactin cell adenoma of less than 10 mm diameter." [HPO:probinson] xref: MSH:D015175 xref: SNOMEDCT_US:253010003 xref: UMLS:C0344452 is_a: HP:0006767 ! Pituitary prolactin cell adenoma created_by: peter creation_date: 2013-09-13T09:49:32Z [Term] id: HP:0012342 name: Macroprolactinoma def: "A pituitary prolactin cell adenoma of more than 10 mm diameter." [HPO:probinson] xref: MSH:D015175 xref: SNOMEDCT_US:253011004 xref: UMLS:C0344453 is_a: HP:0006767 ! Pituitary prolactin cell adenoma created_by: peter creation_date: 2013-09-13T09:50:29Z [Term] id: HP:0012343 name: Decreased serum ferritin def: "Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood." [HPO:probinson] comment: Ferritin levels measured in serum usually have a direct correlation with the total amount of iron stored in the body, but ferritin levels may also be increased with anemia of chronic disease or in the course of an acute phase reaction. synonym: "Decreased plasma ferritin" EXACT [] synonym: "Decreased serum ferritin" EXACT layperson [] synonym: "Low ferritin level" EXACT layperson [] synonym: "Reduced serum ferritin" EXACT layperson [] xref: UMLS:C0241012 is_a: HP:0040133 ! Abnormal serum ferritin created_by: peter creation_date: 2013-09-13T09:51:46Z [Term] id: HP:0012344 name: Morphea def: "Isolated patches of hardened skin (scleroderma)." [HPO:probinson] xref: MSH:D012594 xref: SNOMEDCT_US:201049004 xref: UMLS:C1527383 is_a: HP:0001072 ! Thickened skin created_by: peter creation_date: 2013-09-13T09:55:47Z [Term] id: HP:0012345 name: Abnormal glycosylation def: "An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule." [HPO:probinson] xref: UMLS:C4022946 is_a: HP:0032245 ! Abnormal metabolism created_by: peter creation_date: 2013-09-15T09:06:16Z [Term] id: HP:0012346 name: Abnormal protein glycosylation def: "An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins." [HPO:probinson] xref: UMLS:C4022945 is_a: HP:0012345 ! Abnormal glycosylation created_by: peter creation_date: 2013-09-15T09:09:40Z [Term] id: HP:0012347 name: Abnormal protein N-linked glycosylation def: "An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein." [HPO:probinson, pmid:22516080] comment: Essentially, all proteins (except albumin) that travel through the ER-Golgi network undergo N-linked glycosylation. Glycans promote protein folding, stability, trafficking, localisation, and oligomerisation. They play vital parts in cell-cell interactions and intracellular signalling. xref: UMLS:C4022944 is_a: HP:0012346 ! Abnormal protein glycosylation created_by: peter creation_date: 2013-09-15T09:29:59Z [Term] id: HP:0012348 name: Decreased galactosylation of N-linked protein glycosylation def: "A reduction in the amount of galactose residues of N-glycans." [HPO:probinson] comment: The majority of complex and hybrid N-glycans have elongated branches that are made by the addition of a beta-linked galactose residue to the initiating N-acetylglucosamine to produce the ubiquitous building block Gal-beta-linked1-4GlcNAc, referred to as a type-2 N-acetyllactosamine (LacNAc) sequence. xref: UMLS:C4022943 is_a: HP:0012347 ! Abnormal protein N-linked glycosylation created_by: peter creation_date: 2013-09-15T10:02:47Z [Term] id: HP:0012349 name: Abnormal sialylation of N-linked protein glycosylation def: "An anomaly of the addition of sialic acids to N-linked glycans." [HPO:probinson] comment: The most common sialic acids is N-acetylneuraminic acid (Neu5Ac). xref: UMLS:C4022942 is_a: HP:0012347 ! Abnormal protein N-linked glycosylation created_by: peter creation_date: 2013-09-15T10:08:34Z [Term] id: HP:0012350 name: Decreased sialylation of N-linked protein glycosylation def: "Decreased addition of sialic acids to N-linked glycans." [HPO:probinson] xref: UMLS:C4022941 is_a: HP:0012349 ! Abnormal sialylation of N-linked protein glycosylation created_by: peter creation_date: 2013-09-15T10:14:42Z [Term] id: HP:0012351 name: Increased sialylation of N-linked protein glycosylation def: "Increased addition of sialic acids to N-linked glycans." [HPO:probinson] xref: UMLS:C4022940 is_a: HP:0012349 ! Abnormal sialylation of N-linked protein glycosylation created_by: peter creation_date: 2013-09-15T10:15:28Z [Term] id: HP:0012352 name: Abnormal fucosylation of protein N-linked glycosylation def: "An anomaly of the addition of fucose sugar units to N-linked glycans." [HPO:probinson] xref: UMLS:C4022939 is_a: HP:0012347 ! Abnormal protein N-linked glycosylation created_by: peter creation_date: 2013-09-15T10:17:55Z [Term] id: HP:0012353 name: Decreased fucosylation of N-linked protein glycosylation def: "Decreased addition of fucose sugar units to N-linked glycans." [HPO:probinson] xref: UMLS:C4022938 is_a: HP:0012352 ! Abnormal fucosylation of protein N-linked glycosylation created_by: peter creation_date: 2013-09-15T10:20:00Z [Term] id: HP:0012354 name: Increased fucosylation of N-linked protein glycosylation def: "Increased addition of fucose sugar units to N-linked glycans." [HPO:probinson] xref: UMLS:C4022937 is_a: HP:0012352 ! Abnormal fucosylation of protein N-linked glycosylation created_by: peter creation_date: 2013-09-15T10:21:15Z [Term] id: HP:0012355 name: Abnormal mannosylation of N-linked protein glycosylation def: "An anomaly of the addition of mannose to N-linked glycans." [HPO:probinson] xref: UMLS:C4022936 is_a: HP:0012347 ! Abnormal protein N-linked glycosylation created_by: peter creation_date: 2013-09-15T10:23:53Z [Term] id: HP:0012356 name: Decreased mannosylation of N-linked protein glycosylation def: "Reduced addition of mannose to N-linked glycans." [HPO:probinson] xref: UMLS:C4022935 is_a: HP:0012355 ! Abnormal mannosylation of N-linked protein glycosylation created_by: peter creation_date: 2013-09-15T10:24:56Z [Term] id: HP:0012357 name: Increased mannosylation of N-linked protein glycosylation def: "Increased addition of mannose to N-linked glycans." [HPO:probinson] xref: UMLS:C4022934 is_a: HP:0012355 ! Abnormal mannosylation of N-linked protein glycosylation created_by: peter creation_date: 2013-09-15T10:25:28Z [Term] id: HP:0012358 name: Abnormal protein O-linked glycosylation def: "An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue." [HPO:probinson] xref: UMLS:C4022933 is_a: HP:0012346 ! Abnormal protein glycosylation created_by: peter creation_date: 2013-09-15T10:26:49Z [Term] id: HP:0012359 name: Abnormal fucosylation of O-linked protein glycosylation def: "An anomaly of the addition of fucose sugar units to O-linked glycans." [HPO:probinson] xref: UMLS:C4022932 is_a: HP:0012358 ! Abnormal protein O-linked glycosylation created_by: peter creation_date: 2013-09-15T10:31:07Z [Term] id: HP:0012360 name: Decreased fucosylation of O-linked protein glycosylation def: "A reduction of the addition of fucose sugar units to O-linked glycans." [HPO:probinson] xref: UMLS:C4022931 is_a: HP:0012359 ! Abnormal fucosylation of O-linked protein glycosylation created_by: peter creation_date: 2013-09-15T10:33:00Z [Term] id: HP:0012361 name: Increased fucosylation of O-linked protein glycosylation def: "Increased addition of fucose sugar units to O-linked glycans." [HPO:probinson] xref: UMLS:C4022930 is_a: HP:0012359 ! Abnormal fucosylation of O-linked protein glycosylation created_by: peter creation_date: 2013-09-15T10:34:38Z [Term] id: HP:0012362 name: Abnormal sialylation of O-linked protein glycosylation def: "An anomaly of the addition of sialic acids to O-linked glycans." [HPO:probinson] xref: UMLS:C4022929 is_a: HP:0012358 ! Abnormal protein O-linked glycosylation created_by: peter creation_date: 2013-09-15T10:36:12Z [Term] id: HP:0012363 name: Decreased sialylation of O-linked protein glycosylation def: "An reduced addition of sialic acids to O-linked glycans." [HPO:probinson] xref: UMLS:C4022928 is_a: HP:0012362 ! Abnormal sialylation of O-linked protein glycosylation created_by: peter creation_date: 2013-09-15T10:36:43Z [Term] id: HP:0012364 name: Decreased urinary potassium def: "A decreased concentration of potassium(1+) in the urine." [HPO:probinson] synonym: "Decreased urinary K" EXACT HP:0045077 [] synonym: "Hypokaluria" EXACT [] synonym: "Low urine potassium levels" EXACT [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:54781007 xref: UMLS:C0268024 is_a: HP:0012598 ! Abnormal urine potassium concentration created_by: peter creation_date: 2013-10-03T10:21:51Z [Term] id: HP:0012365 name: Hypophosphaturia def: "An abnormally decreased phosphate concentration in the urine." [HPO:probinson] synonym: "Low urine phosphate levels" EXACT [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:91632005 xref: UMLS:C0268077 is_a: HP:0012599 ! Abnormal urine phosphate concentration created_by: peter creation_date: 2013-10-03T10:25:06Z [Term] id: HP:0012366 name: Basilar invagination def: "Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama)." [HPO:probinson, pmid:10084535] xref: UMLS:C3887851 is_a: HP:0000932 ! Abnormality of the posterior cranial fossa created_by: peter creation_date: 2013-10-13T12:18:53Z [Term] id: HP:0012367 name: Extra fontanelles def: "Bony defects situated along the cranial suture lines or at the junction of the bone plates of the skull." [HPO:probinson] comment: Extra fontanelles include glabellar, metopic, sagittal (parietal) and cerebellar fontanelles. subset: hposlim_core xref: UMLS:C4022927 is_a: HP:0011328 ! Abnormality of fontanelles created_by: peter creation_date: 2013-10-13T12:27:03Z [Term] id: HP:0012368 name: Flat face def: "Absence of concavity or convexity of the face when viewed in profile." [pmid:19125436] comment: A useful guide is to imagine that a line connecting the glabella to the anterior most part of the mandible touches the top of the philtrum where it meets the base of the columella. The glabella is the most prominent point on the frontal bone above the root of the nose. If the superior philtrum is anterior to this line the face is convex, if the superior philtrum is posterior to this line the face is concave. subset: hposlim_core synonym: "Flat face" EXACT layperson [] synonym: "Flat facial profile" EXACT [HPO:skoehler] synonym: "Flat facial shape" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Flat facies" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1853241 is_a: HP:0001999 ! Abnormal facial shape created_by: peter creation_date: 2013-10-13T01:49:13Z [Term] id: HP:0012369 name: Abnormality of malar bones def: "An abnormality of the malar surface of the zygomatic bone and including the frontal process of maxilla." [HPO:probinson, ORCID:0000-0001-5889-4463, pmid:19125436] comment: The malar bones are a confluence of the convex prominence of the zygomatic bone known as the malar surface, along with the malar process (most medial and superior part) of the maxilla. It forms the medial border of the inferior bony orbit, and is contiguous with the lateral boundary of the nasal bridge. synonym: "Anomaly of the malar bones" NARROW [ORCID:0000-0001-5889-4463] synonym: "Deformity of the malar bones" NARROW [ORCID:0000-0001-5889-4463] synonym: "Malar anomaly" EXACT [ORCID:0000-0001-5889-4463] synonym: "Malformation of the malar bones" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4022926 is_a: HP:0000309 ! Abnormality of the midface is_a: HP:0010668 ! Abnormality of the zygomatic bone created_by: peter creation_date: 2013-10-13T02:37:51Z [Term] id: HP:0012370 name: Prominence of the zygomatic bone def: "Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones'." [ORCID:0000-0001-5889-4463, pmid:19125436] subset: hposlim_core synonym: "Cheekbone excess" BROAD [ORCID:0000-0001-5889-4463] synonym: "Hyperplasia of cheekbone" NARROW [ORCID:0000-0001-5889-4463] synonym: "Hyperplasia of zygomatic bone" NARROW [ORCID:0000-0001-5889-4463] synonym: "Malar hypertrophy" EXACT [ORCID:0000-0001-5889-4463] synonym: "Prominence of cheekbone" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Pronounced cheekbone" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Zygomatic bone excess" BROAD [ORCID:0000-0001-5889-4463] synonym: "Zygomatic hypertrophy" NARROW [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:427888001 xref: UMLS:C0375511 xref: UMLS:C1997760 xref: UMLS:C4082245 is_a: HP:0010668 ! Abnormality of the zygomatic bone created_by: peter creation_date: 2013-10-13T02:50:15Z [Term] id: HP:0012371 name: Hyperplasia of midface alt_id: HP:0010279 def: "Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face" [HPO:probinson, pmid:19125436] comment: This term represents increased size of the maxilla (upper jaw) in length (increased midface height) or anterior-posterior projection (midface prominence). In the presence of normal mandible size, maxillary prominence may give the appearance of retrognathia. subset: hposlim_core synonym: "Big midface" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Hypertrophy of midface" RELATED [ORCID:0000-0001-5889-4463] synonym: "Large midface" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Midface hyperplasia" EXACT [HPO:skoehler] synonym: "Midfacial excess" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Midfacial prominence" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Overgrowth of the midface" RELATED layperson [HPO:skoehler] xref: UMLS:C0240309 is_a: HP:0000309 ! Abnormality of the midface created_by: peter creation_date: 2013-10-13T02:55:54Z [Term] id: HP:0012372 name: Abnormal eye morphology alt_id: HP:0000489 alt_id: HP:0012374 def: "A structural anomaly of the globe of the eye, or bulbus oculi." [HPO:probinson] synonym: "Abnormal eye morphology" EXACT layperson [] synonym: "Abnormality of the globe" EXACT [] synonym: "Abnormally shaped eye" EXACT layperson [ORCID:0000-0001-5208-3432] xref: Fyler:4863 xref: UMLS:C4022925 is_a: HP:0000478 ! Abnormality of the eye created_by: peter creation_date: 2013-10-13T03:44:43Z [Term] id: HP:0012373 name: Abnormal eye physiology def: "A functional anomaly of the eye." [HPO:probinson] synonym: "Abnormal eye physiology" EXACT layperson [] xref: UMLS:C4022924 is_a: HP:0000478 ! Abnormality of the eye created_by: peter creation_date: 2013-10-13T03:45:37Z [Term] id: HP:0012374 name: obsolete Abnormal globe morphology is_obsolete: true replaced_by: HP:0012372 [Term] id: HP:0012375 name: Chemosis def: "Edema (swelling) of the bulbar conjunctiva." [HPO:probinson] xref: SNOMEDCT_US:8148005 xref: UMLS:C0271298 is_a: HP:0000502 ! Abnormal conjunctiva morphology created_by: peter creation_date: 2013-10-13T05:45:45Z [Term] id: HP:0012376 name: Microphakia def: "Abnormal smallness of the lens." [HPO:probinson] subset: hposlim_core synonym: "Small lens" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:35272001 xref: UMLS:C0266541 is_a: HP:0008063 ! Aplasia/Hypoplasia of the lens created_by: peter creation_date: 2013-10-13T06:11:11Z [Term] id: HP:0012377 name: Hemianopia def: "Partial or complete loss of vision in one half of the visual field of one or both eyes." [HPO:probinson] synonym: "Hemianopsia" EXACT [] xref: MSH:D006423 xref: SNOMEDCT_US:77674003 xref: UMLS:C0018979 is_a: HP:0001123 ! Visual field defect created_by: peter creation_date: 2013-10-13T07:55:21Z [Term] id: HP:0012378 name: Fatigue def: "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] comment: Fatigue is distinct from muscle weakness. synonym: "Fatigue" EXACT layperson [] synonym: "Malaise" RELATED [] synonym: "Tired" EXACT layperson [] synonym: "Tiredness" EXACT layperson [] xref: MSH:D005221 xref: SNOMEDCT_US:248274002 xref: SNOMEDCT_US:84229001 xref: UMLS:C0015672 is_a: HP:0025142 ! Constitutional symptom created_by: peter creation_date: 2013-10-15T08:52:04Z [Term] id: HP:0012379 name: Abnormal enzyme/coenzyme activity def: "An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme." [HPO:probinson, MP:0005584] xref: UMLS:C4022922 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis created_by: peter creation_date: 2013-10-15T08:58:55Z [Term] id: HP:0012380 name: Reduced carnitine O-palmitoyltransferase activity def: "Reduced carnitine O-palmitoyltransferase activity, i.e., reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine." [HPO:probinson] xref: UMLS:C4022921 is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity created_by: peter creation_date: 2013-10-15T09:00:17Z [Term] id: HP:0012381 name: Delayed self-feeding during toddler years def: "A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age)." [HPO:probinson] xref: UMLS:C4022920 is_a: HP:0011968 ! Feeding difficulties created_by: peter creation_date: 2013-10-16T11:46:54Z [Term] id: HP:0012382 name: Left-to-right shunt def: "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right." [HPO:mhaendel] xref: SNOMEDCT_US:66130006 xref: UMLS:C0428870 is_a: HP:0001693 ! Cardiac shunt created_by: peter creation_date: 2013-10-16T11:54:21Z [Term] id: HP:0012383 name: Bidirectional shunt def: "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa." [HPO:mhaendel] xref: SNOMEDCT_US:13352000 xref: UMLS:C0428872 is_a: HP:0001693 ! Cardiac shunt created_by: peter creation_date: 2013-10-16T11:54:45Z [Term] id: HP:0012384 name: Rhinitis def: "Inflammation of the nasal mucosa with nasal congestion." [HPO:probinson] subset: hposlim_core synonym: "Nasal inflammation" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D012220 xref: SNOMEDCT_US:70076002 xref: UMLS:C0035455 xref: UMLS:C2718128 is_a: HP:0000366 ! Abnormality of the nose created_by: hecht creation_date: 2013-10-19T05:37:08Z [Term] id: HP:0012385 name: Camptodactyly def: "The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension." [HPO:probinson] subset: hposlim_core synonym: "Permanent flexion of the finger or toe" EXACT layperson [orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:29271008 xref: UMLS:C0685409 is_a: HP:0030044 ! Flexion contracture of digit created_by: hecht creation_date: 2013-10-20T08:08:19Z [Term] id: HP:0012386 name: Absent hallux def: "Aplasia of the hallux, that is, a development defect such that the big toe does not develop." [HPO:probinson] synonym: "Absent big toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Agenesis of the halluces" EXACT [] synonym: "Aplasia of the hallux" EXACT [] synonym: "Missing big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1841686 is_a: HP:0008362 ! Aplasia/Hypoplasia of the hallux created_by: hecht creation_date: 2013-10-20T12:03:14Z [Term] id: HP:0012387 name: Bronchitis def: "Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi." [HPO:probinson] xref: MSH:D001991 xref: SNOMEDCT_US:32398004 xref: UMLS:C0006277 is_a: HP:0011947 ! Respiratory tract infection created_by: peter creation_date: 2013-11-07T07:24:16Z [Term] id: HP:0012388 name: Acute bronchitis def: "Inflammation of the large airways of the lung with rapid onset and short course usually associated with cough, mucus production, shortness of breath, wheezing, and chest tightness." [HPO:probinson] xref: SNOMEDCT_US:10509002 xref: SNOMEDCT_US:35301006 xref: UMLS:C0149514 is_a: HP:0012387 ! Bronchitis created_by: peter creation_date: 2013-11-07T07:27:42Z [Term] id: HP:0012389 name: Appendicular hypotonia def: "Muscular hypotonia of one or more limbs." [HPO:probinson] xref: UMLS:C4022919 is_a: HP:0001252 ! Muscular hypotonia created_by: peter creation_date: 2013-11-07T07:31:51Z [Term] id: HP:0012390 name: Anal fissure def: "A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus." [HPO:probinson] synonym: "Anal erosion" RELATED [] xref: MSH:D005401 xref: SNOMEDCT_US:20928004 xref: SNOMEDCT_US:30037006 xref: UMLS:C0016167 is_a: HP:0004378 ! Abnormality of the anus created_by: peter creation_date: 2013-11-07T07:36:49Z [Term] id: HP:0012391 name: Hyporeflexia of upper limbs def: "Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping." [HPO:probinson] xref: UMLS:C1836835 is_a: HP:0001265 ! Hyporeflexia is_a: HP:0002817 ! Abnormality of the upper limb created_by: peter creation_date: 2013-11-07T07:42:49Z [Term] id: HP:0012392 name: Jaw hyporeflexia def: "Reduced intensity of muscle tendon reflexes in jaw." [HPO:probinson] comment: The jaw jerk is elicited by the examiner placing the tip of the index finger on a relaxed jaw, one that is about one-third open. One then taps briskly on the index finger with the other hand and notes the speed as the mandible is flexed. synonym: "Mandibular hyporeflexia" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4022918 is_a: HP:0001265 ! Hyporeflexia is_a: HP:0045037 ! Abnormality of jaw muscles created_by: peter creation_date: 2013-11-07T07:43:29Z [Term] id: HP:0012393 name: Allergy def: "An allergy is an immune response or reaction to substances that are usually not harmful." [HPO:probinson] synonym: "Allergy" EXACT layperson [] xref: MSH:D006967 xref: SNOMEDCT_US:419076005 xref: UMLS:C1527304 is_a: HP:0100326 ! Immunologic hypersensitivity created_by: peter creation_date: 2013-11-07T07:47:22Z [Term] id: HP:0012394 name: Iodine contrast allergy def: "Allergy to iodine contrast media used in radiological studies." [HPO:probinson] xref: UMLS:C4022917 is_a: HP:0012393 ! Allergy created_by: peter creation_date: 2013-11-07T07:49:32Z [Term] id: HP:0012395 name: Seasonal allergy def: "An allergy experienced at a particular time of year when trees or grasses pollinate and elicit an allergic reaction." [HPO:probinson] synonym: "Seasonal allergy" EXACT layperson [] xref: MSH:D006255 xref: SNOMEDCT_US:21719001 xref: SNOMEDCT_US:300910009 xref: SNOMEDCT_US:367498001 xref: SNOMEDCT_US:444316004 xref: UMLS:C0018621 is_a: HP:0012393 ! Allergy created_by: peter creation_date: 2013-11-07T07:51:48Z [Term] id: HP:0012396 name: Biliary dyskinesia def: "A motility disorder characterized by biliary colic in the absence of gallstones with a reduced gallbladder ejection fraction." [HPO:probinson, pmid:12095476] xref: MSH:D001657 xref: SNOMEDCT_US:197432008 xref: UMLS:C0005416 is_a: HP:0012439 ! Abnormal biliary tract physiology created_by: peter creation_date: 2013-11-07T07:56:55Z [Term] id: HP:0012397 name: Aortic atherosclerotic lesion def: "The presence of atheromas or atherosclerotic plaques in the aorta." [HPO:probinson, pmid:16818829] synonym: "Aortic atherosclerosis" BROAD [] synonym: "Atherosclerosis of the aorta" EXACT [] synonym: "Atherosclerotic changes of aorta" EXACT [] synonym: "Plaque build-up in aorta artery" BROAD [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:81817003 xref: UMLS:C0155733 is_a: HP:0001679 ! Abnormal aortic morphology is_a: HP:0002621 ! Atherosclerosis created_by: peter creation_date: 2013-11-07T08:04:30Z [Term] id: HP:0012398 name: Peripheral edema def: "An abnormal accumulation of interstitial fluid in the soft tissues of the limbs." [HPO:probinson] xref: SNOMEDCT_US:271809000 xref: SNOMEDCT_US:82014009 xref: UMLS:C0085649 is_a: HP:0000969 ! Edema created_by: peter creation_date: 2013-11-08T08:09:45Z [Term] id: HP:0012399 name: Pressure ulcer def: "A type of ulcer that is caused when an area of skin is subject to pressure over a prolonged period of time, ranging in range in severity from patches of discolored skin to open wounds that expose the underlying bone or muscle. The most common sites are the sacrum, coccyx, heels and the hips." [HPO:probinson] comment: Pressure ulcers tend to affect persons with reduced mobility who are bedridden or wheelchair-bound. synonym: "Bedsore" EXACT layperson [] synonym: "Decubitus Ulcer" EXACT [] synonym: "Pressure Sore" EXACT layperson [] synonym: "Pressure ulcer" EXACT layperson [] xref: MSH:D003668 xref: SNOMEDCT_US:399912005 xref: SNOMEDCT_US:420226006 xref: UMLS:C0011127 is_a: HP:0200042 ! Skin ulcer created_by: peter creation_date: 2013-11-08T08:49:52Z [Term] id: HP:0012400 name: Abnormal aldolase level def: "An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate." [HPO:probinson] comment: The reaction catalyzed by aldolase is a component of the glycolysis pathway. xref: UMLS:C4022916 is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity created_by: peter creation_date: 2013-11-09T03:35:35Z [Term] id: HP:0012401 name: Abnormal urine alpha-ketoglutarate concentration def: "A deviation from normal of the concentration of 2-oxoglutaric acid in the urine." [HPO:probinson] comment: Note that alpha-ketoglutaric acid is also known as 2-ketoglutaric acid, alpha-ketoglutaric acid, 2-xxoglutaric acid, and oxoglutaric acid. synonym: "Abnormal urinary 2-oxoglutarate level" EXACT [] synonym: "Abnormality of urine alpha ketoglutarate concentration" EXACT [] xref: UMLS:C4020902 is_a: HP:0003110 ! Abnormality of urine homeostasis created_by: peter creation_date: 2013-11-09T03:45:40Z [Term] id: HP:0012402 name: Increased urine alpha-ketoglutarate concentration def: "A greater than normal concentration of 2-oxoglutaric acid in the urine." [HPO:probinson] comment: Note that alpha-ketoglutaric acid is also known as 2-ketoglutaric acid, alpha-ketoglutaric acid, 2-xxoglutaric acid, and oxoglutaric acid. synonym: "Elevated urinary 2-oxoglutarate" EXACT [] synonym: "Increased urine alpha-ketoglutarate concentration" EXACT layperson [] xref: UMLS:C4022915 is_a: HP:0012401 ! Abnormal urine alpha-ketoglutarate concentration created_by: peter creation_date: 2013-11-09T03:48:37Z [Term] id: HP:0012403 name: Decreased urine alpha-ketoglutarate concentration def: "A lower than normal concentration of 2-oxoglutaric acid in the urine." [HPO:probinson] comment: Note that alpha-ketoglutaric acid is also known as 2-ketoglutaric acid, alpha-ketoglutaric acid, 2-xxoglutaric acid, and oxoglutaric acid. synonym: "Decreased urinary 2-oxoglutarate" EXACT [] xref: UMLS:C4022914 is_a: HP:0012401 ! Abnormal urine alpha-ketoglutarate concentration created_by: peter creation_date: 2013-11-09T03:49:45Z [Term] id: HP:0012404 name: Abnormal urine citrate concentration def: "A deviation from normal of the concentration of citrate(3-) in the urine." [HPO:probinson] synonym: "Abnormal urine citrate concentration" EXACT layperson [] synonym: "Abnormal urine citric acid concentration" EXACT [] xref: UMLS:C4022913 is_a: HP:0003110 ! Abnormality of urine homeostasis created_by: peter creation_date: 2013-11-09T03:51:30Z [Term] id: HP:0012405 name: Hypocitraturia def: "A lower than normal concentration of citrate(3-) in the urine." [HPO:probinson] synonym: "Decreased urine citrate concentration" EXACT [] xref: UMLS:C2673444 is_a: HP:0012404 ! Abnormal urine citrate concentration created_by: peter creation_date: 2013-11-09T03:54:41Z [Term] id: HP:0012406 name: Hypercitraturia def: "A greater than normal concentration of citrate(3-) in the urine." [HPO:probinson] synonym: "Increased urine citrate concentration" EXACT [] xref: UMLS:C4021090 is_a: HP:0012404 ! Abnormal urine citrate concentration created_by: peter creation_date: 2013-11-09T03:56:26Z [Term] id: HP:0012407 name: Scissor gait def: "A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use." [HPO:probinson] comment: Scissor gait is a form of gait abnormality primarily associated with spastic cerebral palsy. synonym: "Scissor gait" EXACT layperson [] synonym: "Scissor walk" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Scissors gait" EXACT layperson [HPO:skoehler] xref: MSH:D020233 xref: SNOMEDCT_US:22090007 xref: UMLS:C0231698 is_a: HP:0031958 ! Spastic paraparetic gait created_by: peter creation_date: 2013-11-09T04:15:36Z [Term] id: HP:0012408 name: Medullary nephrocalcinosis def: "The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney)." [ORDCID:0000-0001-5208-3432] xref: SNOMEDCT_US:236447005 xref: UMLS:C0403477 is_a: HP:0000121 ! Nephrocalcinosis created_by: peter creation_date: 2013-11-10T10:45:27Z [Term] id: HP:0012409 name: Cortical nephrocalcinosis def: "The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla)." [HPO:probinson] xref: SNOMEDCT_US:236446001 xref: UMLS:C0403476 is_a: HP:0000121 ! Nephrocalcinosis created_by: peter creation_date: 2013-11-10T11:03:33Z [Term] id: HP:0012410 name: Pure red cell aplasia def: "A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction." [HPO:probinson] comment: Pure red cell aplasia results from a maturation arrest occurs in the formation of erythrocytes. synonym: "Red cell aplasia" EXACT [] xref: MSH:D012010 xref: SNOMEDCT_US:50715003 xref: UMLS:C0034902 is_a: HP:0012131 ! Abnormal number of erythroid precursors created_by: peter creation_date: 2013-11-10T11:36:59Z [Term] id: HP:0012411 name: Premature pubarche def: "The onset of growth of pubic hair at an earlier age than normal." [HPO:probinson] synonym: "Premature pubic hair growth" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:237815000 xref: UMLS:C0342541 is_a: HP:0000826 ! Precocious puberty created_by: peter creation_date: 2013-11-10T11:50:16Z [Term] id: HP:0012412 name: Premature adrenarche def: "Onset of adrenarche at an earlier age than usual." [HPO:probinson] comment: Adrenarche is an early sexual maturation stage that typically occurs at around 6 to 8 years of age, during which the adrenal cortex begins to secrete increased levels of androgens resulting from the development of the zona reticularis in the adrenal cortex. Note that pubarche refers to the development of pubic hair, axillary hair, and adult sweat gland (apocrine) odor. The physical features associated with pubarche reflect the onset of adrenarche, which refers to the pubertal maturation of the adrenal and is associated with increased secretion of an adrenal hormone called dehydroepiandrosterone sulfate (DHEAS). {xref="PMID:10414639"} xref: SNOMEDCT_US:103021001 xref: UMLS:C0342546 is_a: HP:0100000 ! Early onset of sexual maturation created_by: peter creation_date: 2013-11-10T11:58:02Z [Term] id: HP:0012413 name: Notched primary central incisor def: "The presence of a V-shaped indentation (notch) in the primary central incisor." [HPO:probinson] synonym: "Hutchinson's incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Hutchinson's sign" RELATED [ORCID:0000-0001-5889-4463] synonym: "Hutchinson's teeth" RELATED [] synonym: "Hutchinson-boeck teeth" RELATED [ORCID:0000-0001-5889-4463] synonym: "Notched front baby tooth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Notched front deciduous tooth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Notched front primary tooth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Syphilitic primary incisor" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:D013590 xref: SNOMEDCT_US:410500004 xref: SNOMEDCT_US:86443005 xref: UMLS:C0020186 xref: UMLS:C1444627 xref: UMLS:C4022912 is_a: HP:0011063 ! Abnormality of incisor morphology created_by: peter creation_date: 2013-11-10T12:07:34Z [Term] id: HP:0012414 name: Duodenal atrophy def: "Wasting or decrease in size of all or part of the duodenum." [HPO:probinson] xref: UMLS:C4022911 is_a: HP:0002246 ! Abnormality of the duodenum created_by: peter creation_date: 2013-11-10T12:20:19Z [Term] id: HP:0012415 name: Abnormal blood gas level def: "An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood." [HPO:probinson] synonym: "Abnormal blood gas level" EXACT layperson [] xref: SNOMEDCT_US:312391003 xref: UMLS:C0476337 is_a: HP:0002795 ! Functional respiratory abnormality created_by: peter creation_date: 2013-11-10T04:59:20Z [Term] id: HP:0012416 name: Hypercapnia def: "Abnormally elevated blood carbon dioxide (CO2) level." [HPO:probinson] synonym: "High blood carbon dioxide level" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hypercarbia" EXACT [] xref: MSH:D006935 xref: SNOMEDCT_US:29596007 xref: UMLS:C0020440 is_a: HP:0500164 ! Abnormal blood carbon dioxide level created_by: peter creation_date: 2013-11-10T05:04:49Z [Term] id: HP:0012417 name: Hypocapnia def: "Abnormally reduced blood carbon dioxide (CO2) level." [HPO:probinson] synonym: "Hypocarbia" EXACT [https://en.wikipedia.org/wiki/hypocapnia, ORCID:0000-0001-5208-3432] synonym: "Reduced carbon dioxide in the blood" EXACT layperson [https://en.wikipedia.org/wiki/hypocapnia, ORCID:0000-0001-5208-3432] xref: MSH:D016857 xref: SNOMEDCT_US:61031008 xref: UMLS:C0085383 is_a: HP:0500164 ! Abnormal blood carbon dioxide level created_by: peter creation_date: 2013-11-10T05:06:10Z [Term] id: HP:0012418 name: Hypoxemia def: "An abnormally low level of blood oxygen." [HPO:probinson] comment: Note that hypoxemia is defined as a condition where arterial oxygen tension is below normal (80-100mmHg). Hypoxia is defined as the failure of oxygenation at the tissue level. Hypoxia is not measured directly by a standard laboratory value. synonym: "Low blood oxygen level" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D000860 xref: SNOMEDCT_US:389087006 xref: UMLS:C0700292 is_a: HP:0500165 ! Abnormal blood oxygen level created_by: peter creation_date: 2013-11-10T05:07:07Z [Term] id: HP:0012419 name: Hyperoxemia def: "An abnormally high level of blood oxygen." [HPO:probinson] comment: Note that hyperoxemia is defined as a condition where arterial oxygen tension is above normal (80-100mmHg). Hyperoxia is defined as increased oxygen tension at the tissue level. Hyperoxia is not measured directly by a standard laboratory value. xref: UMLS:C4022910 is_a: HP:0500165 ! Abnormal blood oxygen level created_by: peter creation_date: 2013-11-10T05:09:04Z [Term] id: HP:0012420 name: Meconium stained amniotic fluid def: "Amniotic fluid containing the earliest stools of a mammalian infant." [HPO:probinson] comment: Meconium may be expelled into the amniotic fluid before birth in response to fetal distress. If meconium is aspirated by the fetus, it may lead to meconium aspiration syndrome. synonym: "Meconium staining of amniotic fluid" EXACT [] synonym: "Meconium-stained amniotic fluid" EXACT [] xref: SNOMEDCT_US:168092006 xref: SNOMEDCT_US:249135009 xref: UMLS:C0426209 is_a: HP:0001560 ! Abnormality of the amniotic fluid created_by: peter creation_date: 2013-11-10T06:01:40Z [Term] id: HP:0012421 name: Congenital absence of foreskin def: "Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis." [HPO:probinson] comment: Absence of the foreskin can be accompanied by Cryptorchidism and Hypospadias, which should be coded separately. synonym: "Absent foreskin" EXACT [] synonym: "Aposthia" EXACT [] xref: SNOMEDCT_US:300519001 xref: UMLS:C0577242 is_a: HP:0100587 ! Abnormality of the preputium created_by: peter creation_date: 2013-11-10T06:17:21Z [Term] id: HP:0012422 name: Villous hypertrophy of choroid plexus def: "Overgrowth of the choroid plexus." [HPO:probinson, pmid:16523225] comment: The most common location for overgrowth is the lateral ventricles. The choroid plexus folds into many villi around capillaries, creating frond-like processes that project into the ventricles. The terms choroid plexus hypertrophy or choroid plexus hyperplasia are used interchangeably to refer to an increase in size of these structures. Diffuse villous hyperplasia of choroid plexus (DVHCP) is a rare condition which is characterized by the presence of diffuse enlargement of the entire choroid plexus throughout the length of the choroidal fissure and overproduction of CSF. synonym: "Choroid plexus hypertrophy" EXACT [] synonym: "Diffuse villous hypertrophy of choroid plexus" RELATED [] xref: UMLS:C4020728 xref: UMLS:C4021089 is_a: HP:0007376 ! Abnormality of the choroid plexus created_by: peter creation_date: 2013-11-11T07:50:37Z [Term] id: HP:0012423 name: Colonic inertia def: "The inability of the colon to modify stool to an acceptable consistency and move the stool from the cecum to the rectosigmoid area at least once every three days." [HPO:probinson, pmid:23449085] xref: MSH:D003248 xref: UMLS:C1257861 is_a: HP:0012700 ! Abnormal large intestine physiology created_by: peter creation_date: 2013-11-11T08:04:46Z [Term] id: HP:0012424 name: Chorioretinitis def: "An inflammation of the choroid and retina." [ORCID:0000-0001-5208-3432, PMID:16196117] comment: Chorioretinitis is a form of posterior uveitis. Note that the term Chorioretinitis suggests that the origin of the process is predominantly in the choroid while Retinitis suggests that the process is mainly in the retina. xref: MSH:D002825 xref: SNOMEDCT_US:46627006 xref: UMLS:C0008513 is_a: HP:0000532 ! Abnormal chorioretinal morphology created_by: peter creation_date: 2013-11-11T08:10:29Z [Term] id: HP:0012425 name: Stercoral ulcer def: "An ulcer of the colon due to pressure and irritation from retained fecal masses." [ORCID:0000-0001-5208-3432, pmid:7065551] comment: Stercoral ulceration is the loss of bowel integrity from the pressure effects of inspissated feces. The lesion usually occurs in constipated, bedridden patients and presents as an isolated lesion in the rectosigmoid area. synonym: "Colon ulcer" BROAD layperson [ORCID:0000-0001-6908-9849] synonym: "Recto-sigmoid colon stercoral ulcer" RELATED [] xref: SNOMEDCT_US:235766003 xref: SNOMEDCT_US:38084005 xref: SNOMEDCT_US:46040000 xref: UMLS:C0267491 xref: UMLS:C0333302 is_a: HP:0002250 ! Abnormal large intestine morphology created_by: peter creation_date: 2013-11-12T10:28:18Z [Term] id: HP:0012426 name: Optic disc drusen def: "Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve." [HPO:probinson, pmid:22787500, pmid:23658477] comment: Optic disc drusen can lead to an elevated disc and thus mimic disc swelling (pseudopapilledema). xref: MSH:D015594 xref: SNOMEDCT_US:33629003 xref: UMLS:C0029128 is_a: HP:0011510 ! Drusen is_a: HP:0012795 ! Abnormality of the optic disc created_by: peter creation_date: 2013-11-12T10:36:06Z [Term] id: HP:0012427 name: Excessive femoral anteversion def: "An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward." [HPO:probinson, ORCID:0000-0001-5208-3432] comment: Excessive femoral anteversion is a common cause of in-toeing that first presents in early childhood. xref: UMLS:C4022909 is_a: HP:0002823 ! Abnormality of femur morphology created_by: peter creation_date: 2013-11-12T10:51:07Z [Term] id: HP:0012428 name: Prominent calcaneus def: "Protruding heel bone, or calcaneus." [ORCID:0000-0001-5208-3432] synonym: "Prominent heel bone" EXACT layperson [] xref: UMLS:C4021088 is_a: HP:0008364 ! Abnormality of the calcaneus created_by: peter creation_date: 2013-11-12T11:04:49Z [Term] id: HP:0012429 name: Aplasia/Hypoplasia of the cerebral white matter def: "Absence or underdevelopment of the cerebral white matter." [HPO:probinson] synonym: "Absent/small cerebral white matter" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped cerebral white matter" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021844 is_a: HP:0002500 ! Abnormality of the cerebral white matter created_by: peter creation_date: 2013-11-13T07:39:37Z [Term] id: HP:0012430 name: Cerebral white matter hypoplasia def: "Underdevelopment of the cerebral white matter." [HPO:probinson] synonym: "Paucity of cerebral white matter" RELATED [] xref: UMLS:C4020727 xref: UMLS:C4022908 is_a: HP:0012429 ! Aplasia/Hypoplasia of the cerebral white matter created_by: peter creation_date: 2013-11-13T07:42:02Z [Term] id: HP:0012431 name: Episodic fatigue def: "Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] xref: UMLS:C4022907 is_a: HP:0012378 ! Fatigue created_by: peter creation_date: 2013-11-13T07:45:40Z [Term] id: HP:0012432 name: Chronic fatigue def: "Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer." [ORCID:0000-0001-5208-3432] comment: Note that chronic fatigue can be a symptom of chronic fatigue syndrome (CFS), which is characterized by profound fatigue that is not improved by bed rest and that may be worsened by physical or mental activity. Symptoms of CFS may include weakness, muscle pain, impaired memory, impaired mental concentration, and insomnia, which can result in reduced participation in daily activities. synonym: "Chronic extreme exhaustion" EXACT layperson [] synonym: "Chronic fatigue" EXACT layperson [ORCID:0000-0002-6548-5200] xref: UMLS:C0518656 is_a: HP:0012378 ! Fatigue created_by: peter creation_date: 2013-11-13T07:49:08Z [Term] id: HP:0012433 name: Abnormal social behavior def: "An abnormality of actions or reactions of a person taking place during interactions with others." [HPO:probinson] synonym: "Abnormal social behavior" EXACT layperson [] synonym: "Abnormal social behaviour" EXACT layperson [] synonym: "Abnormal social interactions" RELATED layperson [] xref: UMLS:C4020726 xref: UMLS:C4021087 is_a: HP:0000708 ! Behavioral abnormality created_by: peter creation_date: 2013-11-23T08:37:01Z [Term] id: HP:0012434 name: Delayed social development def: "A failure to meet one or more age-related milestones of social behavior." [HPO:probinson] comment: This term should be applied to describe a child whose social development is delayed compared to age-related norms. For instance, at the age of 3 months, a child smiles in response to social interaction, at the age of 7 months, a child responds to the facial expressions of others, and at the age of 12 months a child is shy around strangers. synonym: "Delayed social development" EXACT layperson [] xref: UMLS:C4022906 is_a: HP:0012433 ! Abnormal social behavior is_a: HP:0012758 ! Neurodevelopmental delay created_by: peter creation_date: 2013-11-23T08:40:29Z [Term] id: HP:0012435 name: Ventral shortening of foreskin def: "Reduction in length of the ventral (lower) skin of prepuce of penis." [ORCID:0000-0001-5208-3432] xref: UMLS:C4022905 is_a: HP:0100587 ! Abnormality of the preputium created_by: peter creation_date: 2013-11-23T08:45:20Z [Term] id: HP:0012436 name: Nonocclusive coronary artery atherosclerosis def: "Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries." [ORCID:0000-0001-5208-3432] synonym: "Non-occlusive coronary artery disease" EXACT [] synonym: "Non-occlusive coronary artery stenosis" RELATED [] synonym: "Nonocclusive coronary artery disease" RELATED [] synonym: "Nonocclusive coronary artery stenosis" RELATED [] xref: UMLS:C4020724 xref: UMLS:C4020725 is_a: HP:0001677 ! Coronary artery atherosclerosis created_by: peter creation_date: 2013-11-23T08:50:05Z [Term] id: HP:0012437 name: Abnormal gallbladder morphology def: "A structural anomaly of the gallbladder." [HPO:probinson] synonym: "Abnormal gallbladder morphology" EXACT layperson [] synonym: "Abnormal shape of gallbladder" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022904 is_a: HP:0005264 ! Abnormality of the gallbladder created_by: peter creation_date: 2013-11-23T01:13:40Z [Term] id: HP:0012438 name: Abnormal gallbladder physiology def: "A functional anomaly of the gallbladder." [HPO:probinson] xref: UMLS:C4022903 is_a: HP:0005264 ! Abnormality of the gallbladder created_by: peter creation_date: 2013-11-23T01:17:00Z [Term] id: HP:0012439 name: Abnormal biliary tract physiology def: "A functional abnormality of the biliary tree." [HPO:probinson] xref: UMLS:C4022902 is_a: HP:0001080 ! Biliary tract abnormality created_by: peter creation_date: 2013-11-23T02:14:51Z [Term] id: HP:0012440 name: Abnormal biliary tract morphology def: "A structural abnormality of the biliary tree." [HPO:probinson] synonym: "Anomaly of the biliary tract" EXACT [] xref: UMLS:C4021086 is_a: HP:0001080 ! Biliary tract abnormality created_by: peter creation_date: 2013-11-23T02:15:33Z [Term] id: HP:0012441 name: Sphincter of Oddi dyskinesia def: "Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum." [HPO:probinson] comment: The sphincter of Oddi (also known as sphincter of ampulla) is a muscular valve that controls the flow of bile and pancreatic juice through the ampulla of Vater into the second part of the duodenum. Increased tone of the sphincter or disturbance in the coordination of contraction of the biliary ducts prevents normal emptying of the biliary tree. This may result in biliary pain, common bile duct dilation and episodes of pancreatitis. synonym: "Sphincter of Oddi dysfunction" RELATED [] xref: MSH:D046628 xref: SNOMEDCT_US:430887001 xref: UMLS:C0878588 xref: UMLS:C4048750 is_a: HP:0012396 ! Biliary dyskinesia created_by: peter creation_date: 2013-11-23T02:21:59Z [Term] id: HP:0012442 name: Gallbladder dyskinesia def: "Reduced motility of the gallbladder with reduced emptying fraction." [HPO:probinson, pmid:12095476, pmid:17761125] comment: Patients with this gallbladder dyskinesia present with biliary-type pain but no evidence of gallstones in the gallbladder. The diagnosis is made by performing a radionuclide investigation of the gallbladder ejection fraction. An abnormal gallbladder ejection fraction has a value less than 40 percent. xref: MSH:D001657 xref: UMLS:C1449631 is_a: HP:0012396 ! Biliary dyskinesia created_by: peter creation_date: 2013-11-23T02:28:07Z [Term] id: HP:0012443 name: Abnormality of brain morphology def: "A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain." [HPO:probinson] synonym: "Abnormal shape of brain" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the brain" EXACT layperson [] xref: UMLS:C4021085 is_a: HP:0002011 ! Morphological abnormality of the central nervous system created_by: peter creation_date: 2013-11-23T02:38:00Z [Term] id: HP:0012444 name: Brain atrophy def: "Partial or complete wasting (loss) of brain tissue that was once present." [HPO:probinson] synonym: "Brain degeneration" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Brain wasting" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:278849000 xref: SNOMEDCT_US:418143002 xref: SNOMEDCT_US:52522001 xref: UMLS:C0154671 xref: UMLS:C0235946 is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system is_a: HP:0012443 ! Abnormality of brain morphology created_by: peter creation_date: 2013-11-23T02:46:15Z [Term] id: HP:0012446 name: Low CSF 5-methyltetrahydrofolate def: "A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite." [HPO:probinson] synonym: "Cerebral folate deficiency" RELATED [] xref: MSH:C567791 xref: SNOMEDCT_US:711403001 xref: UMLS:C2751584 xref: UMLS:C4022901 is_a: HP:0025454 ! Abnormal CSF metabolite level created_by: peter creation_date: 2013-11-23T03:40:41Z [Term] id: HP:0012447 name: Abnormal myelination def: "Any anomaly in the process by which myelin sheaths are formed and maintained around neurons." [HPO:probinson, MP:0000920] xref: UMLS:C1857704 is_a: HP:0012639 ! Abnormality of nervous system morphology created_by: peter creation_date: 2013-11-23T03:45:58Z [Term] id: HP:0012448 name: Delayed myelination def: "Delayed myelination." [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:135810007 xref: UMLS:C1277241 is_a: HP:0012447 ! Abnormal myelination created_by: peter creation_date: 2013-11-23T03:47:56Z [Term] id: HP:0012449 name: Sacroiliac joint synovitis def: "Inflammation of the synovial membrane of the sacroiliac joint." [ORCID:0000-0001-5208-3432] xref: UMLS:C4022900 is_a: HP:0100781 ! Abnormality of the sacroiliac joint created_by: peter creation_date: 2013-11-23T03:54:32Z [Term] id: HP:0012450 name: Chronic constipation def: "Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation." [ORCID:0000-0001-5208-3432] synonym: "Chronic constipation" EXACT layperson [] synonym: "Infrequent bowel movements" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:236069009 xref: UMLS:C0401149 is_a: HP:0002019 ! Constipation created_by: peter creation_date: 2013-11-23T04:03:43Z [Term] id: HP:0012451 name: Acute constipation def: "Constipation of sudden onset and lasting for less than three months." [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:197119006 xref: UMLS:C0401148 is_a: HP:0002019 ! Constipation created_by: peter creation_date: 2013-11-23T04:06:37Z [Term] id: HP:0012452 name: Restless legs def: "A feeling of uneasiness and restlessness in the legs after going to bed (sometimes causing insomnia)." [HPO:probinson] comment: Restless legs syndrome is a disorder characterized by aching or burning sensations in the legs that occur prior to sleep or may awaken the affected persons. Complying with an irresistible urge to move the affected limbs brings temporary relief. Sleep may become disrupted, resulting in excessive daytime hypersomnolence. synonym: "Restless legs syndrome" RELATED [] synonym: "Willis-Ekbom disease" RELATED layperson [] synonym: "Wittmaack-Ekbom syndrome" RELATED [] xref: MSH:D012148 xref: SNOMEDCT_US:32914008 xref: UMLS:C0035258 is_a: HP:0002360 ! Sleep disturbance created_by: peter creation_date: 2013-11-23T07:42:59Z [Term] id: HP:0012453 name: Bilateral wrist flexion contracture def: "A chronic loss of wrist joint motion on the right and left sides." [HPO:probinson] synonym: "Bilateral wrist contracture" RELATED [] xref: UMLS:C4020723 xref: UMLS:C4022899 is_a: HP:0001239 ! Wrist flexion contracture created_by: peter creation_date: 2013-11-23T07:58:50Z [Term] id: HP:0012454 name: Unilateral wrist flexion contracture def: "A chronic loss of wrist joint motion on one side only." [HPO:probinson] synonym: "Unilateral wrist contracture" RELATED [] xref: UMLS:C4020722 xref: UMLS:C4022898 is_a: HP:0001239 ! Wrist flexion contracture created_by: peter creation_date: 2013-11-23T07:59:39Z [Term] id: HP:0012455 name: obsolete Large artery calcification is_obsolete: true replaced_by: HP:0003207 [Term] id: HP:0012456 name: Medial arterial calcification def: "Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries." [HPO:probinson] comment: Medial arterial calcification causes stiffening and decreased compliance of the affected arteries. xref: UMLS:C4022896 is_a: HP:0003207 ! Arterial calcification created_by: peter creation_date: 2013-11-24T10:50:45Z [Term] id: HP:0012457 name: Medial calcification of medium-sized arteries def: "Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries." [HPO:probinson] xref: UMLS:C4022895 is_a: HP:0012456 ! Medial arterial calcification created_by: peter creation_date: 2013-11-24T11:11:13Z [Term] id: HP:0012458 name: Medial calcification of small arteries def: "Calcification, that is, pathological deposition of calcium salts in the tunica media of small arteries." [HPO:probinson] comment: The general construction of small arteries is very similar to that of muscular arteries. The media is still muscular and has up to 8-10 layers of smooth muscle cells. xref: UMLS:C4022894 is_a: HP:0012456 ! Medial arterial calcification created_by: peter creation_date: 2013-11-24T11:13:13Z [Term] id: HP:0012459 name: Hypnic headache def: "A headache disorder that occurs exclusively at night, waking the affected individual from sleep." [HPO:probinson, pmid:20585827, pmid:23832130] comment: Hypnic headache can be unilateral or bilateral, and is often but not always described as throbbing. The pain begins abruptly and can last from 15 minutes to 6 hours, although typically it is about 30-60 minutes. synonym: "Alarm clock headache" EXACT layperson [] xref: MSH:D051270 xref: SNOMEDCT_US:122711000119109 xref: UMLS:C0752150 is_a: HP:0002315 ! Headache created_by: peter creation_date: 2013-11-24T11:20:18Z [Term] id: HP:0012460 name: Dysmorphic inferior cerebellar vermis def: "A structural anomaly of the inferior portion of the vermis of cerebellum." [ORCID:0000-0001-5208-3432] xref: UMLS:C4022893 is_a: HP:0002334 ! Abnormality of the cerebellar vermis created_by: peter creation_date: 2013-11-24T11:59:06Z [Term] id: HP:0012461 name: Bacteriuria def: "The presence of bacteria in the urine." [ORCID:0000-0001-5208-3432] comment: The urine is normally bacteria-free. The term refers to bacteria from the urinary tract and not to bacteria found in the urine because of contamination from the surrounding tissues. Significant bacteriuria is a sign of urinary tract infection. synonym: "Bacteria in urine" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "High urine bacteria" EXACT layperson [] xref: MSH:D001437 xref: SNOMEDCT_US:61373006 xref: UMLS:C0004659 is_a: HP:0003110 ! Abnormality of urine homeostasis created_by: peter creation_date: 2013-11-24T12:15:47Z [Term] id: HP:0012462 name: Chin myoclonus def: "Involuntary and irregular twitches of the chin." [HPO:probinson, pmid:16816905] synonym: "Chin spasms" RELATED [] synonym: "Geniospasm" EXACT [] xref: MSH:C537682 xref: UMLS:C1860972 is_a: HP:0001336 ! Myoclonus created_by: peter creation_date: 2013-11-24T12:26:38Z [Term] id: HP:0012463 name: Elevated transferrin saturation def: "An above normal level of saturation of serum transferrin with iron." [HPO:probinson] comment: Transferrins are iron-binding blood plasma glycoproteins that control the level of free iron in biological fluids. The transferrin saturation test (TSAT) refers to the ratio of serum iron to total iron-binding capacity, expressed as a percentage. Transferrin saturations of less than 20% indicate iron deficiency, while transferrin saturations of more than 50% suggest iron overload. Note that the results of the TSAT can be influenced by inflammation. xref: UMLS:C4022892 is_a: HP:0040135 ! Abnormal transferrin saturation created_by: peter creation_date: 2013-11-24T12:46:56Z [Term] id: HP:0012464 name: Decreased transferrin saturation def: "A below normal level of saturation of serum transferrin with iron." [HPO:probinson] comment: Transferrins are iron-binding blood plasma glycoproteins that control the level of free iron in biological fluids. The transferrin saturation test (TSAT) refers to the ratio of serum iron to total iron-binding capacity, expressed as a percentage. Transferrin saturations of less than 20% indicate iron deficiency, while transferrin saturations of more than 50% suggest iron overload. Note that the results of the TSAT can be influenced by inflammation. xref: UMLS:C0919785 is_a: HP:0040135 ! Abnormal transferrin saturation created_by: peter creation_date: 2013-11-24T12:51:51Z [Term] id: HP:0012465 name: Elevated hepatic iron concentration def: "An increased level of iron in liver tissues." [HPO:probinson, pmid:10922422, pmid:14668426] comment: This abnormality can be measured by liver biopsy or by hepatic magnetic resonance imaging. synonym: "Increased iron concentration in liver" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased liver iron level" EXACT [HPO:skoehler] xref: UMLS:C4022891 is_a: HP:0040134 ! Abnormal hepatic iron concentration created_by: peter creation_date: 2013-11-24T12:54:57Z [Term] id: HP:0012466 name: Chronic respiratory acidosis def: "Longstanding impairment in ventilation such that the partial pressure of carbon dioxide (PaCO2) is elevated above the upper limit of the reference range (more than 45 mm Hg), with a normal or near-normal pH secondary to renal compensation and an elevated serum bicarbonate levels (more than30 mEq/L)." [HPO:probinson] xref: SNOMEDCT_US:8764008 xref: UMLS:C0268048 is_a: HP:0005972 ! Respiratory acidosis is_a: HP:0012468 ! Chronic acidosis created_by: peter creation_date: 2013-11-24T01:11:15Z [Term] id: HP:0012467 name: Acute respiratory acidosis def: "Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35)." [HPO:probinson] xref: SNOMEDCT_US:70644008 xref: UMLS:C0268047 is_a: HP:0005972 ! Respiratory acidosis created_by: peter creation_date: 2013-11-24T01:11:51Z [Term] id: HP:0012468 name: Chronic acidosis def: "Longstanding abnormal acid accumulation or depletion of base." [ORCID:0000-0001-5208-3432] xref: UMLS:C1735903 is_a: HP:0001941 ! Acidosis created_by: peter creation_date: 2013-11-24T01:16:31Z [Term] id: HP:0012469 name: Infantile spasms def: "Infantile spasms represent a subset of \"epileptic spasms\". Infantile Spasms are epileptic spasms starting in the first year of life (infancy)." [HPO:ihelbig] xref: UMLS:C3887898 is_a: HP:0011097 ! Epileptic spasms created_by: peter creation_date: 2013-11-26T05:36:45Z [Term] id: HP:0012470 name: Setting-sun eye phenomenon def: "An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid." [HPO:probinson, pmid:17030938] comment: Setting-sun eye phenomenon can also be transiently elicited in healthy infants up to 7 months of age by changes of position or removal of light (benign setting-sun phenomenon). When persistent, this sign is one of the most frequent markers of elevated intracranial pressure. synonym: "Eyes fixed downward" RELATED layperson [] synonym: "Setting-sun eye phenomenon" EXACT layperson [] synonym: "Sun setting eyes" EXACT layperson [] synonym: "Sunsetting eye" EXACT layperson [] xref: SNOMEDCT_US:63342001 xref: UMLS:C0423128 xref: UMLS:C4020721 is_a: HP:0000597 ! Ophthalmoparesis created_by: peter creation_date: 2013-11-26T05:40:01Z [Term] id: HP:0012471 name: Thick vermilion border def: "Increased width of the skin of vermilion border region of upper lip." [HPO:probinson] synonym: "Full lips" EXACT layperson [] synonym: "Increased volume of lip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased volume of lip vermillion" EXACT [ORCID:0000-0001-5889-4463] synonym: "Plump lips" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Prominent lips" EXACT layperson [HPO:skoehler] synonym: "Thick lips" EXACT layperson [] xref: UMLS:C1836543 is_a: HP:0000159 ! Abnormal lip morphology created_by: peter creation_date: 2013-11-26T09:07:51Z [Term] id: HP:0012472 name: Eclabion def: "A turning outward of the lip or lips, that is, eversion of the lips." [HPO:probinson] synonym: "Eclabium" EXACT [] synonym: "Everted lips" EXACT [ORCID:0000-0001-5889-4463] synonym: "Outward turned lips" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C3550430 is_a: HP:0000159 ! Abnormal lip morphology created_by: peter creation_date: 2013-11-26T10:20:23Z [Term] id: HP:0012473 name: Tongue atrophy def: "Wasting of the tongue." [ORCID:0000-0001-5208-3432] synonym: "Atrophy of the tongue" EXACT [] synonym: "Lingual atrophy" EXACT [ORCID:0000-0001-5889-4463] synonym: "Lingual wasting" EXACT [ORCID:0000-0001-5889-4463] synonym: "Wasting of the tongue" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:249382006 xref: SNOMEDCT_US:50805004 xref: UMLS:C0241423 xref: UMLS:C0426494 is_a: HP:0030809 ! Abnormal tongue morphology created_by: peter creation_date: 2013-11-26T10:32:31Z [Term] id: HP:0012474 name: Carotid artery occlusion def: "Complete obstruction of a carotid artery." [ORCID:0000-0001-5208-3432] comment: Carotid artery occlusion is usually caused by caused by atherosclerosis. synonym: "Obstructed carotid artery" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:266254007 xref: SNOMEDCT_US:69798007 xref: UMLS:C0265101 is_a: HP:0005344 ! Abnormal carotid artery morphology created_by: peter creation_date: 2013-11-27T10:11:40Z [Term] id: HP:0012475 name: Decreased circulating level of specific antibody def: "The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against a specific antigen or microorganism." [HPO:probinson, pmid:17100769] synonym: "Decreased specific antibody in blood" EXACT [] synonym: "Specific antibody deficiency" EXACT [] xref: SNOMEDCT_US:234556002 xref: UMLS:C0398711 is_a: HP:0004313 ! Decreased antibody level in blood is_a: HP:0031404 ! Impaired antigen-specific response created_by: peter creation_date: 2013-11-27T10:21:15Z [Term] id: HP:0012476 name: Specific pneumococcal antibody deficiency def: "The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci." [HPO:probinson] xref: UMLS:C4022890 is_a: HP:0012475 ! Decreased circulating level of specific antibody created_by: peter creation_date: 2013-11-27T10:28:04Z [Term] id: HP:0012477 name: Vocal tremor def: "A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability." [HPO:probinson, pmid:22505778] synonym: "Shakey voice" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Vocal tremor" EXACT layperson [] xref: UMLS:C4022889 is_a: HP:0002345 ! Action tremor created_by: peter creation_date: 2013-11-28T07:11:37Z [Term] id: HP:0012478 name: Temporomandibular joint ankylosis def: "Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening." [ORCID:0000-0001-5208-3432] synonym: "Adhesion of the temporomandibular joint" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Ankylosis of temporomandibular joint" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Freezing of jaw joint" EXACT layperson [] synonym: "Freezing of the temporomandibular joint" EXACT [ORCID:0000-0001-5889-4463] synonym: "Rigidity of the temporomandibular joint" EXACT [ORCID:0000-0001-5889-4463] synonym: "Temporomandibular joint fusion" EXACT [] xref: MSH:C536957 xref: SNOMEDCT_US:298231004 xref: SNOMEDCT_US:50603008 xref: SNOMEDCT_US:91866004 xref: UMLS:C0575010 xref: UMLS:C0685924 xref: UMLS:C2931375 is_a: HP:0010754 ! Abnormality of the temporomandibular joint created_by: peter creation_date: 2013-11-28T07:24:24Z [Term] id: HP:0012479 name: Temporomandibular joint crepitus def: "Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound." [HPO:probinson] synonym: "Jaw joint clicking sound" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Jaw joint crepitus" EXACT [ORCID:0000-0001-5889-4463] synonym: "Jaw joint grating sound" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Jaw joint noise" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Jaw joint popping sound" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Jaw joint sounds" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Temporomandibular joint clicking sound" NARROW [ORCID:0000-0001-5889-4463] synonym: "Temporomandibular joint grating sound" NARROW [ORCID:0000-0001-5889-4463] synonym: "Temporomandibular joint noise" BROAD [ORCID:0000-0001-5889-4463] synonym: "Temporomandibular joint popping sound" NARROW [ORCID:0000-0001-5889-4463] synonym: "Temporomandibular joint sounds" BROAD [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:298377005 xref: UMLS:C0575154 xref: UMLS:C4280313 xref: UMLS:C4280314 xref: UMLS:C4280315 is_a: HP:0010754 ! Abnormality of the temporomandibular joint created_by: peter creation_date: 2013-11-28T07:28:13Z [Term] id: HP:0012480 name: Abnormality of cerebral veins def: "An anomaly of cerebral veins." [HPO:probinson] xref: UMLS:C4022888 is_a: HP:0100659 ! Abnormality of the cerebral vasculature created_by: peter creation_date: 2013-11-28T08:01:32Z [Term] id: HP:0012481 name: Cerebral venous angioma def: "A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system." [HPO:probinson, pmid:8770251] comment: DVA is characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system. synonym: "Developmental Venous Anomaly" EXACT [] xref: MSH:D020787 xref: UMLS:C1956261 is_a: HP:0012480 ! Abnormality of cerebral veins created_by: peter creation_date: 2013-11-28T08:03:08Z [Term] id: HP:0012482 name: Frontal venous angioma def: "A venous angioma of the frontal lobe of the brain." [HPO:probinson] xref: UMLS:C4022887 is_a: HP:0012481 ! Cerebral venous angioma created_by: peter creation_date: 2013-11-28T08:12:07Z [Term] id: HP:0012483 name: Abnormal alpha granules def: "Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury." [DDD:wouwehand, pmid:8467233] comment: This feature can be observed by electron microscopy. Alpha granules normally contain a number of proteins including von Willebrand factor, and fibrinogen. xref: UMLS:C4022886 is_a: HP:0011883 ! Abnormal platelet granules created_by: peter creation_date: 2013-11-29T07:44:49Z [Term] id: HP:0012484 name: Abnormal dense granules def: "Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium , histamine and serotonin." [DDD:wouwehand] comment: This feature can be observed by electron microscopy. xref: UMLS:C4022885 is_a: HP:0011883 ! Abnormal platelet granules created_by: peter creation_date: 2013-11-29T07:48:08Z [Term] id: HP:0012485 name: Abnormal surface-connected open canalicular system def: "An anomaly of the invaginations of the surface membrane that form the open canalicular system (OCS). The OCS serve as the pathway for transport of substances into the cells and as conduits for the discharge of alpha granule products secreted during the platelet release reaction." [HPO:probinson, pmid:1760557] xref: UMLS:C4021840 is_a: HP:0011875 ! Abnormal platelet morphology created_by: peter creation_date: 2013-11-29T07:55:15Z [Term] id: HP:0012486 name: Myelitis def: "Inflammation of the spinal cord." [HPO:probinson] synonym: "Inflammation of spinal cord" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D009187 xref: SNOMEDCT_US:41370002 xref: UMLS:C0026975 is_a: HP:0002143 ! Abnormality of the spinal cord is_a: HP:0012649 ! Increased inflammatory response created_by: peter creation_date: 2013-11-29T08:10:12Z [Term] id: HP:0012487 name: Cerebellopontine angle arachnoid cyst def: "An arachnoid cyst located at the margin of the cerebellum and pons." [ORCID:0000-0001-5208-3432] xref: UMLS:C4022884 is_a: HP:0100702 ! Arachnoid cyst created_by: peter creation_date: 2013-11-29T09:03:39Z [Term] id: HP:0012488 name: Intraventricular arachnoid cyst def: "An arachnoid cyst located within the ventricular system." [HPO:probinson, pmid:8951893] comment: Arachnoid cysts very rarely occur within the ventricular system, where no arachnoid tissue exists. xref: UMLS:C4022883 is_a: HP:0100702 ! Arachnoid cyst created_by: peter creation_date: 2013-11-29T09:08:46Z [Term] id: HP:0012489 name: Suprasellar arachnoid cyst def: "An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards." [HPO:probinson, pmid:21586175] comment: As the cyst increases in size it fills and occludes the third ventricle, and distorts and blocks the aqueduct, which finally results in hydrocephalus. xref: UMLS:C4022882 is_a: HP:0100702 ! Arachnoid cyst created_by: peter creation_date: 2013-11-29T09:11:20Z [Term] id: HP:0012490 name: Panniculitis def: "Inflammation of adipose tissue." [HPO:probinson] comment: Panniculitis most commonly affects the skin and characterized by reddened subcutaneous nodules. synonym: "Inflammation of adipose tissue" EXACT [ORCID:0000-0001-5208-3432] synonym: "Inflammation of fat tissue" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D015434 xref: SNOMEDCT_US:22125009 xref: UMLS:C0030326 is_a: HP:0009124 ! Abnormal adipose tissue morphology is_a: HP:0012649 ! Increased inflammatory response created_by: peter creation_date: 2013-11-29T09:28:11Z [Term] id: HP:0012491 name: Abnormal dense tubular system def: "An anomaly of the intracellular membrane complexes known as the dense tubular system." [DDD:wouwehand, pmid:1322202] comment: The dense tubular system (DTS) functions to regulate platelet activation by sequestering or releasing calcium, similar to the sarcotubules of skeletal muscle. In resting platelets, the DTS exists as thin elongated membranes. Within 10 seconds of the addition of thrombin, platelets show a major ultrastructural change in their DTS: from the thin elongated form to a rounded vesicular form. xref: UMLS:C4022881 is_a: HP:0011875 ! Abnormal platelet morphology created_by: peter creation_date: 2013-11-29T09:35:44Z [Term] id: HP:0012492 name: Cerebral artery stenosis def: "Narrowing or constriction of the inner surface (lumen) of a cerebral artery." [ORCID:0000-0001-5208-3432] synonym: "Narrowing of a cerebral artery" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1504438 is_a: HP:0009145 ! Abnormal cerebral artery morphology created_by: peter creation_date: 2013-11-30T08:00:55Z [Term] id: HP:0012493 name: Middle cerebral artery stenosis def: "Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery." [HPO:probinson] xref: SNOMEDCT_US:21290001000004104 xref: UMLS:C1504568 is_a: HP:0012492 ! Cerebral artery stenosis created_by: peter creation_date: 2013-11-30T08:04:27Z [Term] id: HP:0012494 name: Anterior cerebral artery stenosis def: "Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery." [HPO:probinson] xref: UMLS:C1504567 is_a: HP:0012492 ! Cerebral artery stenosis created_by: peter creation_date: 2013-11-30T08:06:15Z [Term] id: HP:0012495 name: Posterior cerebral artery stenosis def: "Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery." [HPO:probinson] xref: UMLS:C1504569 is_a: HP:0012492 ! Cerebral artery stenosis created_by: peter creation_date: 2013-11-30T08:07:04Z [Term] id: HP:0012496 name: Reduced maximal inspiratory pressure def: "A decrease in the maximum amount of negative pressure a person can generate during an inhalation." [ORCID:0000-0001-5208-3432] xref: UMLS:C4022880 is_a: HP:0004347 ! Weakness of muscles of respiration created_by: peter creation_date: 2013-11-30T08:24:33Z [Term] id: HP:0012497 name: Reduced maximal expiratory pressure def: "A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration." [ORCID:0000-0001-5208-3432] xref: UMLS:C4022879 is_a: HP:0004347 ! Weakness of muscles of respiration created_by: peter creation_date: 2013-11-30T08:28:49Z [Term] id: HP:0012498 name: Nuchal cord def: "A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times." [HPO:probinson] xref: MSH:D053589 xref: SNOMEDCT_US:302929008 xref: UMLS:C0405124 is_a: HP:0001787 ! Abnormal delivery created_by: peter creation_date: 2013-11-30T08:32:27Z [Term] id: HP:0012499 name: Descending aortic dissection def: "A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space." [HPO:probinson] comment: According to the Stanford classification, type B aortic dissection begins beyond brachiocephalic vessels (begins distal to the left subclavian artery). synonym: "Type B aortic dissection" EXACT [] xref: UMLS:C4022878 is_a: HP:0002647 ! Aortic dissection created_by: peter creation_date: 2013-11-30T08:44:18Z [Term] id: HP:0012500 name: Verrucous papule def: "A wartlike (with multiple small elevated projections) papule." [HPO:probinson] synonym: "Papillomatous papule" EXACT [] xref: UMLS:C4022877 is_a: HP:0200034 ! Papule created_by: peter creation_date: 2013-11-30T09:03:16Z [Term] id: HP:0012501 name: Abnormality of the brainstem white matter def: "An anomaly of the white matter of brainstem." [HPO:probinson] xref: UMLS:C4022876 is_a: HP:0002363 ! Abnormality of brainstem morphology created_by: peter creation_date: 2013-11-30T09:19:46Z [Term] id: HP:0012502 name: Abnormality of the internal capsule def: "An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus." [HPO:probinson] xref: UMLS:C4022875 is_a: HP:0002500 ! Abnormality of the cerebral white matter created_by: peter creation_date: 2013-11-30T09:29:18Z [Term] id: HP:0012503 name: Abnormality of the pituitary gland def: "An anomaly of the pituitary gland." [HPO:probinson] synonym: "disorder of pituitary gland" EXACT [] xref: MSH:D010900 xref: SNOMEDCT_US:399244003 xref: UMLS:C0032002 is_a: HP:0000864 ! Abnormality of the hypothalamus-pituitary axis is_a: HP:0012443 ! Abnormality of brain morphology created_by: peter creation_date: 2013-11-30T09:34:21Z [Term] id: HP:0012504 name: Abnormal size of pituitary gland def: "A deviation from the normal size of the pituitary gland." [HPO:probinson] xref: UMLS:C4022874 is_a: HP:0012503 ! Abnormality of the pituitary gland created_by: peter creation_date: 2013-11-30T09:36:04Z [Term] id: HP:0012505 name: Enlarged pituitary gland def: "An abnormally increased size of the pituitary gland." [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:237718009 xref: UMLS:C0342422 is_a: HP:0012504 ! Abnormal size of pituitary gland created_by: peter creation_date: 2013-11-30T09:36:45Z [Term] id: HP:0012506 name: Small pituitary gland def: "An abnormally decreased size of the pituitary gland." [ORCID:0000-0001-5208-3432] xref: UMLS:C4022873 is_a: HP:0012504 ! Abnormal size of pituitary gland created_by: peter creation_date: 2013-11-30T09:37:34Z [Term] id: HP:0012507 name: Weakness of orbicularis oculi muscle def: "Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid." [HPO:probinson] synonym: "Weakness of orbicularis oculi muscles" EXACT [HPO:skoehler] xref: UMLS:C1839030 is_a: HP:0001324 ! Muscle weakness is_a: HP:0030319 ! Weakness of facial musculature created_by: peter creation_date: 2013-12-08T08:12:54Z [Term] id: HP:0012508 name: Metamorphopsia def: "A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank." [HPO:probinson] xref: MSH:D014786 xref: SNOMEDCT_US:42134006 xref: UMLS:C0271185 is_a: HP:0000504 ! Abnormality of vision created_by: peter creation_date: 2013-12-08T08:21:46Z [Term] id: HP:0012509 name: Reduced thyroxin-binding globulin def: "An abnormally decreased amount of thyroxin-binding globulin (TBG) in blood. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream." [HPO:probinson] comment: Thyroxin-binding globulin is known as serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), Entrez Gene ID 6906. Individuals with TBG deficiency are euthyroid. xref: UMLS:C4022872 is_a: HP:0010876 ! Abnormal circulating protein level created_by: peter creation_date: 2013-12-08T08:25:46Z [Term] id: HP:0012510 name: Extra-axial cerebrospinal fluid accumulation def: "An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space." [HPO:probinson, pmid:22327705, pmid:23838695] synonym: "Extra-axial CSF accumulation" EXACT HP:0045077 [] xref: UMLS:C4022871 is_a: HP:0002921 ! Abnormality of the cerebrospinal fluid created_by: peter creation_date: 2013-12-08T08:37:34Z [Term] id: HP:0012511 name: Temporal optic disc pallor def: "A pale yellow discoloration of the temporal (lateral) portion of the optic disc." [HPO:probinson, pmid:19668477] comment: Temporal pallor is seen in conditions that selectively affect the papillo-macular bundle. The word temporal refers to the temporal bone at the side of the head. xref: SNOMEDCT_US:247220006 xref: UMLS:C0344299 is_a: HP:0000543 ! Optic disc pallor created_by: peter creation_date: 2013-12-08T08:55:48Z [Term] id: HP:0012512 name: Diffuse optic disc pallor def: "A pale yellow discoloration of the entire optic disc." [HPO:probinson, pmid:19668477] comment: Temporal pallor is seen in conditions that selectively affect the papillo-macular bundle. The word temporal refers to the temporal bone at the side of the head. xref: UMLS:C4022870 is_a: HP:0000543 ! Optic disc pallor created_by: peter creation_date: 2013-12-08T09:02:25Z [Term] id: HP:0012513 name: Upper limb pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm." [ORCID:0000-0001-5208-3432] synonym: "Upper limb pain" EXACT layperson [] xref: SNOMEDCT_US:102556003 xref: UMLS:C0239377 is_a: HP:0009763 ! Limb pain created_by: peter creation_date: 2013-12-08T09:07:11Z [Term] id: HP:0012514 name: Lower limb pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg." [ORCID:0000-0001-5208-3432] synonym: "Leg pain" EXACT layperson [] synonym: "Lower limb pain" EXACT layperson [] xref: SNOMEDCT_US:10601006 xref: UMLS:C0023222 is_a: HP:0009763 ! Limb pain created_by: peter creation_date: 2013-12-08T09:10:29Z [Term] id: HP:0012515 name: Hip flexor weakness def: "Reduced ability to flex the femur, that is, to pull the knee upward." [ORCID:0000-0001-5208-3432] comment: Hip flexion is mediated by multiple muscles including the iliopsoas, the rectus femoris, the sartorius, and several muscles from the medial compartment of thigh. xref: UMLS:C3279725 is_a: HP:0003749 ! Pelvic girdle muscle weakness created_by: peter creation_date: 2013-12-08T09:14:34Z [Term] id: HP:0012516 name: Tetralogy of Fallot with pulmonary atresia def: "An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries." [ORCID:0000-0001-5208-3432, pmid:22368654] comment: Tetralogy of Fallot with Pulmonary Atresia (TOF/PA) is a complex lesion with many different anatomic variants. The primary source of variability in this lesion is in the anatomy of the pulmonary arteries, with the spectrum ranging from well-formed, confluent pulmonary artery branches to completely absent native pulmonary arteries and major aorto-pulmonary collaterals (MAPCA's) providing all the pulmonary blood flow. The majority of cases fall somewhere in between these two ends of the spectrum, with the total pulmonary blood flow provided by a combination of diminutive native pulmonary arteries and multiple MAPCA. xref: SNOMEDCT_US:253513005 xref: UMLS:C0344882 is_a: HP:0001636 ! Tetralogy of Fallot created_by: peter creation_date: 2013-12-08T09:44:24Z [Term] id: HP:0012517 name: Reduced catalase activity def: "An abnormally decreased amount of catalase activity." [HPO:probinson] comment: Catalase catalyzes the decomposition of hydrogen peroxide to water and oxygen. xref: UMLS:C4022869 is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity created_by: peter creation_date: 2013-12-09T06:49:18Z [Term] id: HP:0012518 name: Abnormal circle of Willis morphology def: "An anomaly of the circle of Willis, also known as the cerebral arterial circle." [HPO:probinson] comment: The circle of Willis is a circulatory anastomosis in the brain comprised of the anterior cerebral arteries, the anterior communicating artery, the internal carotid arteries, the posterior cerebral arteries, and the posterior communicating arteries. synonym: "Abnormality of the cerebral arterial circle" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4022868 is_a: HP:0009145 ! Abnormal cerebral artery morphology created_by: peter creation_date: 2013-12-09T07:03:02Z [Term] id: HP:0012519 name: Hypoplastic posterior communicating artery def: "Underdeveloped posterior communicating artery." [ORCID:0000-0001-5208-3432] comment: The posterior communicating arteries connect the internal carotid artery just proximal to its bifurcation into the anterior cerebral artery and middle cerebral artery with the posterior cerebral artery. The posterior communicating artery is part of the circle of Willis. synonym: "Hypoplastic posterior communicating arteries" RELATED [] xref: UMLS:C4020720 is_a: HP:0031772 ! Abnormal posterior circulating artery morphology created_by: peter creation_date: 2013-12-09T07:06:12Z [Term] id: HP:0012520 name: Perivascular spaces def: "Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery." [ORCID:0000-0001-5208-3432, pmid:17620468, pmid:23867200] comment: Virchow-Robin spaces are commonly seen at magnetic resonance imaging. These perivascular spaces as fluid-filled spaces that follow the typical course of a vessel as it goes through grey or white matter. The spaces have signal intensity similar to that of cerebrospinal fluid (CSF) on all magnetic resonance sequences. synonym: "Dilatation of Virchow-Robin spaces" EXACT [] synonym: "Dilated cerebral perivascular spaces" RELATED [] synonym: "Dilated Virchow-Robin spaces" EXACT [] xref: UMLS:C1853618 xref: UMLS:C4020719 is_a: HP:0100659 ! Abnormality of the cerebral vasculature created_by: peter creation_date: 2013-12-09T07:17:47Z [Term] id: HP:0012521 name: Optic nerve aplasia def: "Congenital absence of the optic nerve." [HPO:probinson] synonym: "Absent optic nerve" EXACT [ORCID:0000-0001-6908-9849] synonym: "Aplastic optic nerve" EXACT [] xref: UMLS:C4021084 is_a: HP:0008058 ! Aplasia/Hypoplasia of the optic nerve created_by: peter creation_date: 2013-12-12T02:15:31Z [Term] id: HP:0012522 name: Spider hemangioma def: "A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released." [HPO:probinson, pmid:22356347] comment: Spider hemangiomas are up to a few centimeters in diameter. xref: UMLS:C4022867 is_a: HP:0100585 ! Telangiectasia of the skin created_by: peter creation_date: 2013-12-14T08:31:15Z [Term] id: HP:0012523 name: Oral aversion def: "Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing)." [ORCID:0000-0001-5208-3432] xref: UMLS:C3665983 is_a: HP:0100738 ! Abnormal eating behavior created_by: peter creation_date: 2013-12-14T09:18:51Z [Term] id: HP:0012524 name: Abnormal platelet shape def: "A deviation from the normal discoid platelet shape." [DD:WHO] xref: UMLS:C4022866 is_a: HP:0011875 ! Abnormal platelet morphology created_by: peter creation_date: 2013-12-15T08:55:03Z [Term] id: HP:0012525 name: Abnormal alpha granule distribution def: "An anomalous location and arrangement of platelet alpha granules." [DDD:wouwehand] xref: UMLS:C4022865 is_a: HP:0012483 ! Abnormal alpha granules created_by: peter creation_date: 2013-12-15T08:56:17Z [Term] id: HP:0012526 name: Absence of alpha granules def: "A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears." [HPO:probinson, pmid:3877532] synonym: "Gray platelets" EXACT [] synonym: "Grey platelets" EXACT HP:0045076 [] xref: UMLS:C4022864 is_a: HP:0012528 ! Abnormal number of alpha granules created_by: peter creation_date: 2013-12-15T08:57:46Z [Term] id: HP:0012527 name: Abnormal alpha granule content def: "A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor." [HPO:probinson] comment: The alpha granules contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor. xref: UMLS:C4022863 is_a: HP:0012483 ! Abnormal alpha granules created_by: peter creation_date: 2013-12-15T09:02:48Z [Term] id: HP:0012528 name: Abnormal number of alpha granules def: "A deviation from the normal count of alpha granules per thrombocyte." [DDD:wouwehand] xref: UMLS:C4022862 is_a: HP:0012483 ! Abnormal alpha granules created_by: peter creation_date: 2013-12-15T09:07:34Z [Term] id: HP:0012529 name: Abnormal dense granule content def: "A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated." [DDD:wouwehand] xref: UMLS:C4021839 is_a: HP:0012484 ! Abnormal dense granules created_by: peter creation_date: 2013-12-15T09:12:44Z [Term] id: HP:0012530 name: Abnormal number of dense granules def: "A deviation from the normal count of dense granules per thrombocyte." [DDD:wouwehand] xref: UMLS:C4022861 is_a: HP:0012484 ! Abnormal dense granules created_by: peter creation_date: 2013-12-15T09:12:55Z [Term] id: HP:0012531 name: Pain def: "An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage." [ORCID:0000-0001-5208-3432] synonym: "Pain" EXACT layperson [] xref: MSH:D010146 xref: SNOMEDCT_US:22253000 xref: UMLS:C0030193 is_a: HP:0025142 ! Constitutional symptom created_by: peter creation_date: 2013-12-15T09:38:08Z [Term] id: HP:0012532 name: Chronic pain def: "Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months." [HPO:probinson, pmid:1875958] comment: Acute pain is provoked by a specific disease or injury, serves a useful biologic purpose, is associated with skeletal muscle spasm and sympathetic nervous system activation, and is self-limited. Chronic pain, in contrast, may be considered a disease state. It is pain that outlasts the normal time of healing. synonym: "Chronic pain" EXACT layperson [] synonym: "Long-lasting pain" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:D059350 xref: SNOMEDCT_US:82423001 xref: UMLS:C0150055 is_a: HP:0012531 ! Pain created_by: peter creation_date: 2013-12-15T09:46:55Z [Term] id: HP:0012533 name: Allodynia def: "Pain due to a stimulus that does not normally provoke pain." [HPO:probinson] xref: MSH:D006930 xref: SNOMEDCT_US:247404004 xref: UMLS:C0458247 is_a: HP:0012531 ! Pain created_by: peter creation_date: 2013-12-15T09:47:40Z [Term] id: HP:0012534 name: Dysesthesia def: "Abnormal sensations with no apparent physical cause that are painful or unpleasant." [ORCID:0000-0001-5208-3432] comment: Dysesthesia is a subclass of paresthesia in which the sensations are unpleasant or disagreeable. synonym: "Dysaesthesia" EXACT [] synonym: "Dysesthesias" RELATED [HPO:skoehler] xref: MSH:D010292 xref: SNOMEDCT_US:279079003 xref: UMLS:C0392699 is_a: HP:0003401 ! Paresthesia created_by: peter creation_date: 2013-12-15T09:59:55Z [Term] id: HP:0012535 name: Abnormal synaptic transmission def: "An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process." [HPO:probinson, MP:0003635] synonym: "Abnormality of neurotransmitter metabolism" EXACT [] xref: UMLS:C4021083 is_a: HP:0012638 ! Abnormality of nervous system physiology created_by: peter creation_date: 2013-12-15T10:12:31Z [Term] id: HP:0012536 name: Maternal anticardiolipin antibody positive def: "The presence of circulating autoantibodies to anticardiolipin in the mother." [ORCID:0000-0001-5208-3432, pmid:1495720, pmid:9722063] comment: There have been reports of cerebral infarction in a newborns in association with elevated maternal anticardiolipin antibodies. xref: UMLS:C4022860 is_a: HP:0011437 ! Maternal autoimmune disease created_by: peter creation_date: 2013-12-15T10:20:51Z [Term] id: HP:0012537 name: Food intolerance def: "A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction." [HPO:probinson] synonym: "Food intolerance" EXACT layperson [] synonym: "Non-allergic food hypersensitivity" EXACT [] xref: SNOMEDCT_US:235719002 xref: UMLS:C0149696 is_a: HP:0012337 ! Abnormal homeostasis created_by: peter creation_date: 2013-12-15T10:25:19Z [Term] id: HP:0012538 name: Gluten intolerance def: "A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease." [HPO:probinson] synonym: "Gluten intolerance" EXACT layperson [] synonym: "Gluten sensitivity" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D002446 xref: SNOMEDCT_US:396331005 xref: SNOMEDCT_US:441831003 xref: UMLS:C0007570 xref: UMLS:C0850024 is_a: HP:0001984 ! Intolerance to protein created_by: peter creation_date: 2013-12-15T10:31:34Z [Term] id: HP:0012539 name: Non-Hodgkin lymphoma def: "A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells." [HPO:probinson] xref: MSH:D008228 xref: SNOMEDCT_US:118601006 xref: SNOMEDCT_US:128929007 xref: SNOMEDCT_US:188675007 xref: SNOMEDCT_US:1929004 xref: UMLS:C0024305 is_a: HP:0002665 ! Lymphoma created_by: peter creation_date: 2013-12-15T10:45:49Z [Term] id: HP:0012540 name: Axillary epidermoid cyst def: "An epidermoid cyst in the armpit." [ORCID:0000-0001-5208-3432] synonym: "Armpit cyst" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4022859 is_a: HP:0200040 ! Epidermoid cyst created_by: peter creation_date: 2013-12-15T10:35:39Z [Term] id: HP:0012541 name: Cephalohematoma def: "Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum." [ORCID:0000-0001-5208-3432] comment: Cephalohematoma is generally caused by trauma during labor. synonym: "Cephalohaematoma" EXACT [] xref: SNOMEDCT_US:206200000 xref: SNOMEDCT_US:83095000 xref: UMLS:C0007722 is_a: HP:0001787 ! Abnormal delivery is_a: HP:0001892 ! Abnormal bleeding created_by: peter creation_date: 2013-12-15T10:37:57Z [Term] id: HP:0012542 name: Onychauxis def: "Thickened nails without deformity." [HPO:probinson] xref: SNOMEDCT_US:30654002 xref: UMLS:C0263536 is_a: HP:0001805 ! Onychogryposis created_by: peter creation_date: 2013-12-15T10:49:45Z [Term] id: HP:0012543 name: Hemosiderinuria def: "The presence of hemosiderin in the urine." [HPO:probinson] comment: Hemosiderinuria leads to a brown color of urine. It is a marker of chronic intravascular hemolysis, in which hemoglobin is released from RBCs into the bloodstream in excess of the binding capacity of haptoglobin. xref: UMLS:C2721579 is_a: HP:0003110 ! Abnormality of urine homeostasis created_by: peter creation_date: 2013-12-21T09:09:38Z [Term] id: HP:0012544 name: Elevated aldolase level def: "An increased concentration of fructose 1,6-bisphosphate aldolase in the serum." [ORCID:0000-0001-5208-3432] comment: Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate. xref: UMLS:C4022858 is_a: HP:0012400 ! Abnormal aldolase level created_by: peter creation_date: 2013-12-21T09:18:43Z [Term] id: HP:0012545 name: Reduced aldolase level def: "An decreased concentration of fructose 1,6-bisphosphate aldolase in the serum." [ORCID:0000-0001-5208-3432] comment: Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate. xref: UMLS:C4022857 is_a: HP:0012400 ! Abnormal aldolase level created_by: peter creation_date: 2013-12-21T09:20:49Z [Term] id: HP:0012546 name: Skewed maternal X inactivation def: "A deviation from equal (50%) inactivation of each parental X chromosome in maternal cells." [HPO:probinson, pmid:18097476] comment: X chromosome inactivation (XCI) is the process by which one of the two copies of the X chromosome present in females is inactivated in order to achieves dosage equivalency for X-linked genes between XY males and XX females. An individual cell's decision to inactivate either the paternal or maternal X is made early in development, at approximately the time of implantation, such that normally there is a roughly equal distribution of either X being active. A deviation from equality is known as skewing, with common criteria for "skewed" inactivation being arbitrarily defined as the observation of inactivation of the same allele in 75% or 80% of cells (and very skewed inactivation resulting in 90% or 95% of cells with the same allele inactive). For some X-linked diseases there is strong selection in the heterozygous carrier in favor of cells bearing the mutation on the silenced inactive X, and thus, assessment of XCI skewing in female family members can be suggestive of carrier status. xref: UMLS:C4022856 is_a: HP:0002686 ! Prenatal maternal abnormality created_by: peter creation_date: 2013-12-21T09:22:57Z [Term] id: HP:0012547 name: Abnormal involuntary eye movements def: "Anomalous movements of the eyes that occur without the subject wanting them to happen." [HPO:probinson] xref: UMLS:C4022855 is_a: HP:0000496 ! Abnormality of eye movement created_by: peter creation_date: 2013-12-21T10:37:42Z [Term] id: HP:0012548 name: Fatty replacement of skeletal muscle def: "Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers" [HPO:probinson, Neuromics:vstraub] comment: Fatty infiltration of muscle tissue can be observed on muscle biopsy as well as through imaging by computed tomography and magnetic resonance tomography. synonym: "Skeletal muscle fatty infiltration" EXACT [] xref: UMLS:C4021082 is_a: HP:0011805 ! Abnormal muscle morphology created_by: peter creation_date: 2014-01-01T03:03:05Z [Term] id: HP:0012549 name: Conjunctival lipoma def: "A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva." [HPO:probinson] comment: Conjunctival lipoma displays yellowish-pink stromal mass, histologically with large lipid vacuoles surrounded by stellate cells. xref: NCIT:C3192 xref: UMLS:C4022854 is_a: HP:0000502 ! Abnormal conjunctiva morphology created_by: peter creation_date: 2014-01-01T03:13:56Z [Term] id: HP:0012550 name: Colonic varices def: "The presence of varices (enlarged and convoluted blood vessels) in the colon." [HPO:probinson, pmid:16688816] comment: Colonic varices are a rare cause of lower gastrointestinal bleeding, most commonly associated with portal hypertension nd more rarely with congestive heart failure, mesenteric vein thrombosis, pancreatitis with splenic vein thrombosis and adhesions, and mesenteric vein compression. Colonic varices are usually located in the rectosigmoid region and the cecum. xref: UMLS:C4022853 is_a: HP:0002250 ! Abnormal large intestine morphology created_by: peter creation_date: 2014-01-01T03:54:41Z [Term] id: HP:0012551 name: Absent neutrophil specific granules def: "Lack of specific granules in neutrophils." [HPO:probinson, pmid:6155073] comment: Neutrophil polymorphonuclear leukocytes (PMNs) contain two principal types of granules. Azurophil granules appear early in neutrophil development and contain lysosomal enzymes, lysozyme, and myeloperoxidase (MPO). Specific granules are formed later, lack MPO and hydrolases, but contain lactoferrin and the remainder of the cell's complement of lysozyme. Consequently, specific granules may be conveniently detected at the electron-microscopic (EM) level by the cytochemical demonstration of their lack of MPO, while at the optical level their presence can be inferred from their positive immunocytochemical staining for lactoferrin with the use of specific antiserums. xref: UMLS:C4022852 is_a: HP:0011992 ! Abnormality of neutrophil morphology created_by: peter creation_date: 2014-01-01T03:32:09Z [Term] id: HP:0012552 name: Increased neutrophil nuclear projections def: "Presence of an elevated number of projections from nuclei of neutrophils. These projections can have the shape of hooks, tags, or clubs." [HPO:probinson] xref: UMLS:C4022851 is_a: HP:0011992 ! Abnormality of neutrophil morphology created_by: peter creation_date: 2014-01-01T03:41:24Z [Term] id: HP:0012553 name: Hypoplastic thumbnail def: "A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail." [HPO:probinson] synonym: "Small thumbnail" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Underdeveloped thumbnail" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022850 is_a: HP:0001804 ! Hypoplastic fingernail created_by: peter creation_date: 2014-01-04T12:57:28Z [Term] id: HP:0012554 name: Absent thumbnail def: "Absence of thumb nail." [HPO:probinson] xref: UMLS:C4022849 is_a: HP:0001817 ! Absent fingernail created_by: peter creation_date: 2014-01-04T01:05:52Z [Term] id: HP:0012555 name: Absent nail of hallux def: "Absent nail of big toe." [HPO:probinson] synonym: "Absent big toe nail" EXACT layperson [] synonym: "Absent nail of big toe" EXACT layperson [] xref: UMLS:C4021081 is_a: HP:0001802 ! Absent toenail created_by: peter creation_date: 2014-01-04T01:06:39Z [Term] id: HP:0012556 name: Hyperbetaalaninemia def: "Increased concentration of beta-alanine in the blood." [HPO:probinson] synonym: "High blood beta-alanine levels" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hyperbeta-alaninemia" EXACT [] xref: UMLS:C4021080 is_a: HP:0003112 ! Abnormality of serum amino acid level created_by: peter creation_date: 2014-01-04T01:37:23Z [Term] id: HP:0012557 name: EEG with centrotemporal focal spike waves def: "EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave." [HPO:probinson] xref: UMLS:C4022848 is_a: HP:0011197 ! EEG with focal spike waves created_by: peter creation_date: 2014-01-04T01:43:32Z [Term] id: HP:0012558 name: Abnormal T3/T4 ratio def: "A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal." [HPO:probinson, pmid:16982586] xref: UMLS:C4022847 is_a: HP:0031508 ! Abnormal thyroid hormone level created_by: peter creation_date: 2014-01-04T01:50:30Z [Term] id: HP:0012559 name: Increased T3/T4 ratio def: "A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal." [HPO:probinson] xref: UMLS:C4022846 is_a: HP:0012558 ! Abnormal T3/T4 ratio created_by: peter creation_date: 2014-01-04T01:52:59Z [Term] id: HP:0012560 name: Decreased T3/T4 ratio def: "A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal." [HPO:probinson] xref: UMLS:C4022845 is_a: HP:0012558 ! Abnormal T3/T4 ratio created_by: peter creation_date: 2014-01-04T01:54:13Z [Term] id: HP:0012561 name: Unicuspid aortic valve def: "The presence of an aortic valve with one instead of the normal three cusps (flaps)." [HPO:probinson, pmid:18480095, pmid:20329493] comment: The aortic valve normally has three cusps (flaps), that is, it is normally tricuspid. Unicuspid aortic valve (UAV) shares many of the features of bicuspid aortic valve, including valvular dysfunction, aortic dilatation, aortic dissection, and dystrophic calcification, although these conditions develop at an earlier age and progress at a faster pace in UAV. xref: SNOMEDCT_US:253610004 xref: UMLS:C0345001 is_a: HP:0031567 ! Abnormal aortic valve cusp morphology created_by: peter creation_date: 2014-01-08T08:14:15Z [Term] id: HP:0012562 name: Premature epimetaphyseal fusion in hand def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the hand, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [HPO:probinson] xref: UMLS:C4022844 is_a: HP:0010588 ! Premature epimetaphyseal fusion created_by: peter creation_date: 2014-01-04T02:02:35Z [Term] id: HP:0012563 name: Premature epimetaphyseal fusion in foot def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the foot, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [HPO:probinson] xref: UMLS:C4022843 is_a: HP:0010588 ! Premature epimetaphyseal fusion created_by: peter creation_date: 2014-01-04T02:05:25Z [Term] id: HP:0012564 name: Premature epimetaphyseal fusion in tibia def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the tibia, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [HPO:probinson] xref: UMLS:C4022842 is_a: HP:0010588 ! Premature epimetaphyseal fusion created_by: peter creation_date: 2014-01-04T02:07:34Z [Term] id: HP:0012565 name: Premature epimetaphyseal fusion in fibula def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the fibula, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [HPO:probinson] xref: UMLS:C4021838 is_a: HP:0010588 ! Premature epimetaphyseal fusion created_by: peter creation_date: 2014-01-04T02:08:23Z [Term] id: HP:0012566 name: Premature epimetaphyseal fusion in radius def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the radius, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [HPO:probinson] xref: UMLS:C4022841 is_a: HP:0010588 ! Premature epimetaphyseal fusion created_by: peter creation_date: 2014-01-04T02:09:50Z [Term] id: HP:0012567 name: Premature epimetaphyseal fusion in ulna def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the ulna, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [HPO:probinson] xref: UMLS:C4022840 is_a: HP:0010588 ! Premature epimetaphyseal fusion created_by: peter creation_date: 2014-01-04T02:10:05Z [Term] id: HP:0012568 name: Lower eyelid edema def: "Edema in the region of the Lower eyelid." [ORCID:0000-0001-5208-3432] synonym: "Cellulitis of lower eyelid" EXACT [ORCID:0000-0001-5889-4463] synonym: "Fullness of lower eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Puffiness of lower eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Swelling of lower eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:700327003 xref: UMLS:C2025810 xref: UMLS:C3839997 is_a: HP:0100540 ! Palpebral edema created_by: peter creation_date: 2014-01-04T02:25:56Z [Term] id: HP:0012569 name: Delayed menarche def: "First period after the age of 15 years." [HPO:probinson] synonym: "Delayed start of first period" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C0949173 is_a: HP:0000140 ! Abnormality of the menstrual cycle is_a: HP:0000823 ! Delayed puberty created_by: peter creation_date: 2014-01-08T08:20:18Z [Term] id: HP:0012570 name: Synovial sarcoma def: "A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities." [HPO:probinson] comment: Synovial sarcoma is a high-grade tumor that is associated with poor prognosis. synonym: "Malignant synovioma" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:D013584 xref: SNOMEDCT_US:302851001 xref: SNOMEDCT_US:63211008 xref: UMLS:C0039101 is_a: HP:0030448 ! Soft tissue sarcoma created_by: peter creation_date: 2014-01-08T08:47:50Z [Term] id: HP:0012571 name: Ureter fissus def: "A partial duplication of the ureter such that the duplicated ureters fuse to a single ureter before their insertion into the bladder." [Eurenomics:ewuehl] comment: This anomaly is only seen in the presence of renal duplication. synonym: "Partially duplicated ureter" EXACT [] xref: ICD-10:Q62.5 "Duplication of ureter" xref: UMLS:C4021079 is_a: HP:0000073 ! Ureteral duplication created_by: peter creation_date: 2014-01-16T11:38:41Z [Term] id: HP:0012572 name: Ureter duplex def: "A complete duplication of the ureter such that the duplicated ureters with separate insertions into the bladder." [Eurenomics:fschaefer] xref: ICD-10:Q62.5 "Duplication of ureter" xref: SNOMEDCT_US:49496001 xref: UMLS:C0221365 is_a: HP:0000073 ! Ureteral duplication created_by: peter creation_date: 2014-01-16T11:42:00Z [Term] id: HP:0012573 name: Global proximal tubulopathy def: "A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis." [HPO:probinson] xref: UMLS:C4022839 is_a: HP:0000114 ! Proximal tubulopathy created_by: peter creation_date: 2014-01-16T12:27:40Z [Term] id: HP:0012574 name: Mesangial hypercellularity def: "Increased numbers of mesangial cells per glomerulus, defined as four or more nuclei in a peripheral mesangial segment." [Eurenomics:fschaefer] synonym: "Mesangial proliferation" EXACT [] xref: SNOMEDCT_US:125510009 xref: UMLS:C0545017 is_a: HP:0001966 ! Mesangial abnormality created_by: peter creation_date: 2014-01-16T12:43:25Z [Term] id: HP:0012575 name: Abnormal nephron morphology def: "A structural anomaly of the nephron." [Eurenomics:fschaefer] synonym: "Abnormality of the nephron" EXACT [] xref: UMLS:C4022838 is_a: HP:0012210 ! Abnormal renal morphology created_by: peter creation_date: 2014-01-16T12:49:04Z [Term] id: HP:0012576 name: Glomerular C3 deposition def: "The presence of complement 3 deposits in the glomerulus." [Eurenomics:ewuehl] synonym: "C3 nephropathy" RELATED [] synonym: "Renal C3 deposition" EXACT [] xref: UMLS:C4022837 is_a: HP:0030949 ! Glomerular deposits created_by: peter creation_date: 2014-01-16T01:08:21Z [Term] id: HP:0012577 name: Thin glomerular basement membrane def: "Reduction in thickness of the basal lamina of the glomerulus of the kidney." [HPO:probinson] comment: This finding is demonstrated on renal biopsy. xref: UMLS:C3276821 is_a: HP:0000095 ! Abnormality of renal glomerulus morphology created_by: peter creation_date: 2014-01-16T01:21:17Z [Term] id: HP:0012578 name: Membranous nephropathy def: "A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space." [Eurenomics:fschaefer] synonym: "Membranous glomerulonephritis" EXACT [] xref: MSH:D015433 xref: SNOMEDCT_US:77182004 xref: UMLS:C0017665 is_a: HP:0000099 ! Glomerulonephritis created_by: peter creation_date: 2014-01-16T01:22:41Z [Term] id: HP:0012579 name: Minimal change glomerulonephritis def: "The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria." [Eurenomics:fschaefer] synonym: "Minimal change disease" EXACT [] synonym: "Minimal change nephropathy" EXACT [] xref: MSH:D009402 xref: SNOMEDCT_US:44785005 xref: UMLS:C0027721 is_a: HP:0000099 ! Glomerulonephritis created_by: peter creation_date: 2014-01-16T01:26:20Z [Term] id: HP:0012580 name: Calcium phosphate nephrolithiasis def: "The presence of calcium- and phosphate-containing calculi (stones) in the kidneys." [HPO:probinson] synonym: "Ca phosphate nephrolithiasis" EXACT HP:0045077 [] synonym: "Ca phosphate urolithiasis" EXACT HP:0045077 [] synonym: "Ca2+ phosphate nephrolitiasis" EXACT HP:0045077 [] synonym: "Ca2+ phosphate urolithiasis" EXACT HP:0045077 [] synonym: "Calcium phosphate urolithiasis" RELATED [] xref: UMLS:C3671880 is_a: HP:0004724 ! Calcium nephrolithiasis created_by: peter creation_date: 2014-01-16T01:34:27Z [Term] id: HP:0012581 name: Solitary renal cyst def: "An isolated cyst of the kidney." [Eurenomics:ewuehl] synonym: "Simple kidney cyst" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:77945009 xref: UMLS:C0268800 xref: UMLS:C4022836 is_a: HP:0000107 ! Renal cyst created_by: peter creation_date: 2014-01-16T03:06:37Z [Term] id: HP:0012582 name: Bilateral renal dysplasia def: "A bilateral form of developmental dysplasia of the kidney." [HPO:probinson] xref: SNOMEDCT_US:204950001 xref: UMLS:C0431698 is_a: HP:0000110 ! Renal dysplasia created_by: peter creation_date: 2014-01-16T03:14:35Z [Term] id: HP:0012583 name: Unilateral renal hypoplasia def: "One sided hypoplasia of the kidney." [Eurenomics:fschaefer] synonym: "Small kidney on one side" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Underdeveloped kidney on one side" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:204948009 xref: UMLS:C0431691 is_a: HP:0000089 ! Renal hypoplasia created_by: peter creation_date: 2014-01-16T03:15:30Z [Term] id: HP:0012584 name: Bilateral renal hypoplasia def: "Two sided hypoplasia of the kidney." [Eurenomics:fschaefer] xref: SNOMEDCT_US:268232000 xref: UMLS:C0431692 is_a: HP:0000089 ! Renal hypoplasia created_by: peter creation_date: 2014-01-16T03:16:03Z [Term] id: HP:0012585 name: Renal atrophy def: "Atrophy of the kidney." [HPO:probinson] synonym: "Kidney degeneration" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:197659005 xref: UMLS:C0341698 is_a: HP:0012210 ! Abnormal renal morphology created_by: peter creation_date: 2014-01-16T03:21:19Z [Term] id: HP:0012586 name: Bilateral renal atrophy def: "A two-sided form of atrophy of the kidney." [HPO:probinson] synonym: "Bilateral kidney degeneration" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4022835 is_a: HP:0012585 ! Renal atrophy created_by: peter creation_date: 2014-01-16T03:21:55Z [Term] id: HP:0012587 name: Macroscopic hematuria def: "Hematuria that is visible upon inspection of the urine." [HPO:sdoelken] synonym: "Bloody urine" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Gross hematuria" EXACT [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:197941005 xref: UMLS:C0473237 is_a: HP:0000790 ! Hematuria created_by: peter creation_date: 2014-01-16T03:31:44Z [Term] id: HP:0012588 name: Steroid-resistant nephrotic syndrome def: "A form of nephrotic syndrome that does not respond to treatment with steroid medication." [Eurenomics:ewuehl] xref: SNOMEDCT_US:236381000 xref: UMLS:C0403397 is_a: HP:0000100 ! Nephrotic syndrome created_by: peter creation_date: 2014-01-16T03:47:57Z [Term] id: HP:0012589 name: Multidrug-resistant nephrotic syndrome def: "A form of nephrotic syndrome that does not respond to any immunosuppresive treatment." [Eurenomics:ewuehl] xref: UMLS:C4022834 is_a: HP:0000100 ! Nephrotic syndrome created_by: peter creation_date: 2014-01-16T03:48:49Z [Term] id: HP:0012590 name: Abnormal urine output def: "An abnormal amount of urine production." [Eurenomics:ewuehl] xref: UMLS:C3693260 is_a: HP:0011036 ! Abnormality of renal excretion created_by: peter creation_date: 2014-01-16T03:59:33Z [Term] id: HP:0012591 name: Abnormal urinary electrolyte concentration xref: UMLS:C4022833 is_a: HP:0003110 ! Abnormality of urine homeostasis created_by: peter creation_date: 2014-01-16T05:44:11Z [Term] id: HP:0012592 name: Albuminuria def: "Increased concentration of albumin in the urine." [Eurenomics:fschaefer] xref: MSH:D000419 xref: SNOMEDCT_US:274769005 xref: UMLS:C0001925 is_a: HP:0000093 ! Proteinuria created_by: peter creation_date: 2014-01-16T05:49:16Z [Term] id: HP:0012593 name: Nephrotic range proteinuria def: "Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children." [Eurenomics:ewuehl] xref: SNOMEDCT_US:264867001 xref: UMLS:C0445118 is_a: HP:0000093 ! Proteinuria created_by: peter creation_date: 2014-01-16T05:50:21Z [Term] id: HP:0012594 name: Microalbuminuria def: "The presence of mildly increased concentrations of albumin in the urine (in adults, 30-150 mg per day)." [Eurenomics:fschaefer] synonym: "High urine albumin levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:312975006 xref: UMLS:C0730345 xref: UMLS:C1654921 is_a: HP:0012592 ! Albuminuria created_by: peter creation_date: 2014-01-16T05:54:41Z [Term] id: HP:0012595 name: Mild proteinuria def: "Mildly increased levels of protein in the urine (150-500 mg per day in adults)." [Eurenomics:eweuehl] xref: UMLS:C4022832 is_a: HP:0000093 ! Proteinuria created_by: peter creation_date: 2014-01-16T05:55:47Z [Term] id: HP:0012596 name: Moderate proteinuria def: "Moderately increased levels of protein in the urine (500-1000 mg per day in adults)." [Eurenomics:fschaefer] xref: UMLS:C4022831 is_a: HP:0000093 ! Proteinuria created_by: peter creation_date: 2014-01-16T05:56:26Z [Term] id: HP:0012597 name: Heavy proteinuria def: "Severely increased levels of protein in the urine (1000-3000 mg per day in adults)." [Eurenomics:ewuehl] synonym: "Severly high blood protein levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022830 is_a: HP:0000093 ! Proteinuria created_by: peter creation_date: 2014-01-16T05:56:38Z [Term] id: HP:0012598 name: Abnormal urine potassium concentration def: "An abnormal concentration of potassium(1+) in the urine." [Eurenomics:fschaefer] synonym: "Abnormal urine K concentration" EXACT HP:0045077 [] xref: UMLS:C4022829 is_a: HP:0012591 ! Abnormal urinary electrolyte concentration created_by: peter creation_date: 2014-01-16T06:11:59Z [Term] id: HP:0012599 name: Abnormal urine phosphate concentration def: "An abnormal phosphate concentration in the urine." [Eurenomics:ewuehl] xref: UMLS:C4022828 is_a: HP:0012591 ! Abnormal urinary electrolyte concentration created_by: peter creation_date: 2014-01-16T06:14:49Z [Term] id: HP:0012600 name: Abnormal urine chloride concentration def: "An abnormal concentration of chloride in the urine." [Eurenomics:fschaefer] synonym: "Abnormal urine Cl concentration" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] synonym: "Abnormal urine Cl- concentration" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] xref: UMLS:C4022827 is_a: HP:0012591 ! Abnormal urinary electrolyte concentration created_by: peter creation_date: 2014-01-16T06:16:24Z [Term] id: HP:0012601 name: Hypochloriduria def: "An decreased concentration of chloride in the urine." [HPO:probinson] synonym: "Decreased urinary chloride" EXACT [] synonym: "Low urine chloride levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021078 is_a: HP:0012600 ! Abnormal urine chloride concentration created_by: peter creation_date: 2014-01-16T06:17:06Z [Term] id: HP:0012602 name: Renal chloride wasting def: "High urine chloride in the presence of hypochloridemia." [Eurenomics:ewuehl] synonym: "Kidney chloride wasting" EXACT [https://orcid.org/0000-0001-7941-2961] synonym: "Renal Cl wasting" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] synonym: "Renal Cl- wasting" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] xref: UMLS:C4022826 is_a: HP:0012600 ! Abnormal urine chloride concentration created_by: peter creation_date: 2014-01-16T06:18:11Z [Term] id: HP:0012603 name: Abnormal urine sodium concentration def: "An abnormal concentration of sodium in the urine." [Eurenomics:fschaefer] synonym: "Abnormal urine Na concentration" EXACT [] synonym: "Abnormal urine Na+ levels" EXACT [] xref: UMLS:C4022825 is_a: HP:0012591 ! Abnormal urinary electrolyte concentration created_by: peter creation_date: 2014-01-16T06:19:27Z [Term] id: HP:0012604 name: Hyponatriuria def: "An abnormally decreased sodium concentration in the urine." [Eurenomics:ewuehl] synonym: "Low urine sodium levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022824 is_a: HP:0012603 ! Abnormal urine sodium concentration created_by: peter creation_date: 2014-01-16T06:22:09Z [Term] id: HP:0012605 name: Hypernatriuria alt_id: HP:0003608 def: "An increased concentration of sodium(1+) in the urine." [Eurenomics:ewuehl] synonym: "Increased urinary sodium" EXACT [] xref: UMLS:C3671887 is_a: HP:0012603 ! Abnormal urine sodium concentration created_by: peter creation_date: 2014-01-16T06:22:44Z [Term] id: HP:0012606 name: Renal sodium wasting def: "An abnormally increased sodium concentration in the urine in the presence of hyponatremia." [Eurenomics:ewuehl] synonym: "Kidney sodium wasting" EXACT [] synonym: "Renal Na wasting" EXACT HP:0045077 [] synonym: "Renal Na+ wasting" EXACT HP:0045077 [] xref: UMLS:C2748576 is_a: HP:0012603 ! Abnormal urine sodium concentration created_by: peter creation_date: 2014-01-16T06:23:16Z [Term] id: HP:0012607 name: Abnormal urine magnesium concentration def: "An abnormal concentration of magnesium the urine." [Eurenomics:ewuehl] synonym: "Abnormal urine magnesium concentration" EXACT layperson [] xref: UMLS:C4022823 is_a: HP:0012591 ! Abnormal urinary electrolyte concentration created_by: peter creation_date: 2014-01-17T11:37:50Z [Term] id: HP:0012608 name: Hypermagnesiuria def: "An increased concentration of magnesium the urine." [Eurenomics:fschaefer] xref: UMLS:C2673443 is_a: HP:0012607 ! Abnormal urine magnesium concentration created_by: peter creation_date: 2014-01-17T11:38:51Z [Term] id: HP:0012609 name: Hypomagnesiuria def: "An decreased concentration of magnesium the urine." [Eurenomics:fschaefer] synonym: "Decreased urine magnesium" EXACT layperson [] synonym: "Low urine magnesium levels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3203528 is_a: HP:0012607 ! Abnormal urine magnesium concentration created_by: peter creation_date: 2014-01-17T11:39:31Z [Term] id: HP:0012610 name: Abnormality of urinary uric acid concentration def: "Abnormal concentration of urate in the urine." [HPO:probinson] comment: Xanthine oxidase oxidizes oxypurines such as xanthine and hypoxanthine to uric acid. Uric acid is the final oxidation product of purine catabolism. xref: UMLS:C4022822 is_a: HP:0003110 ! Abnormality of urine homeostasis created_by: peter creation_date: 2014-01-17T11:56:43Z [Term] id: HP:0012611 name: Increased urinary urate def: "Elevated concentration of urate in the urine." [HPO:probinson] comment: Xanthine oxidase oxidizes oxypurines such as xanthine and hypoxanthine to uric acid. Uric acid is the final oxidation product of purine catabolism. xref: UMLS:C0878672 is_a: HP:0012610 ! Abnormality of urinary uric acid concentration created_by: peter creation_date: 2014-01-17T11:57:29Z [Term] id: HP:0012612 name: Abnormal urinary sulfate concentration def: "Abnormal concentration of sulfate in the urine." [HPO:probinson] xref: UMLS:C4022821 is_a: HP:0003110 ! Abnormality of urine homeostasis created_by: peter creation_date: 2014-01-17T11:58:23Z [Term] id: HP:0012613 name: Increased urinary sulfate def: "Elevated concentration of SO4(2-), i.e., sulfate, in the urine." [HPO:probinson] xref: UMLS:C4022820 is_a: HP:0012612 ! Abnormal urinary sulfate concentration created_by: peter creation_date: 2014-01-17T11:58:51Z [Term] id: HP:0012614 name: Abnormal urine cytology def: "An anomalous finding in the examination of the urine for cells." [Eurenomics:ewuehl] xref: SNOMEDCT_US:310439007 xref: UMLS:C0587955 is_a: HP:0003110 ! Abnormality of urine homeostasis created_by: peter creation_date: 2014-01-17T12:01:16Z [Term] id: HP:0012615 name: Cylindruria def: "The presence of renal casts (cylindrical, cigar-shaped structures produced by the kidney in certain disease states) in the urine." [Eurenomics:ewuehl] comment: Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. The casts are suibsequently eliminated via the urine and may be seen by microscopy of the urine sediment. A large number of casts can indicate kidney disease. Urinary casts are composed of Tamm-Horsfall protein, which is a mucoprotein that is secreted by the distal loop of Henle. synonym: "Urinary casts" EXACT [] xref: PMID:26079824 xref: SNOMEDCT_US:5277004 xref: UMLS:C0151990 is_a: HP:0012614 ! Abnormal urine cytology created_by: peter creation_date: 2014-01-17T12:03:19Z [Term] id: HP:0012616 name: Leukocyte cylindruria def: "Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine." [Eurenomics:fschaefer] synonym: "White blood cell casts" EXACT [] xref: UMLS:C4022819 is_a: HP:0031197 ! Cellular urinary casts created_by: peter creation_date: 2014-01-17T12:05:08Z [Term] id: HP:0012617 name: Erythrocyte cylindruria def: "Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine." [Eurenomics:fschaefer] synonym: "Red blood cell casts" EXACT [] xref: UMLS:C4022818 is_a: HP:0031197 ! Cellular urinary casts created_by: peter creation_date: 2014-01-17T12:06:50Z [Term] id: HP:0012618 name: Urachal cyst def: "A cyst located along the allantois canal." [Eurenomics:fschaefer] xref: MSH:D014496 xref: SNOMEDCT_US:17234001 xref: UMLS:C0041915 is_a: HP:0010478 ! Abnormality of the urachus created_by: peter creation_date: 2014-01-17T12:15:15Z [Term] id: HP:0012619 name: Multiple bladder diverticula def: "Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder." [Eurenomics:fschaefer] synonym: "Multiple pouches in bladder wall" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4022817 is_a: HP:0000015 ! Bladder diverticulum created_by: peter creation_date: 2014-01-17T12:21:05Z [Term] id: HP:0012620 name: Cloacal abnormality def: "A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate." [HPO:probinson] xref: UMLS:C4022816 is_a: HP:0000119 ! Abnormality of the genitourinary system is_a: HP:0010866 ! Abdominal wall defect created_by: peter creation_date: 2014-01-17T12:27:06Z [Term] id: HP:0012621 name: Persistent cloaca def: "Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel." [HPO:probinson] synonym: "Cloacogenic bladder" EXACT [] xref: SNOMEDCT_US:74829002 xref: UMLS:C0266225 is_a: HP:0012620 ! Cloacal abnormality created_by: peter creation_date: 2014-01-17T12:28:30Z [Term] id: HP:0012622 name: Chronic kidney disease alt_id: HP:0000106 alt_id: HP:0001918 alt_id: HP:0008671 def: "Functional anomaly of the kidney persisting for at least three months." [Eurenomics:ewuehl] synonym: "Chronic kidney disease" EXACT layperson [] synonym: "Loss of renal function" RELATED [] synonym: "Progressive renal failure" RELATED [] synonym: "Progressive renal insufficiency" RELATED [] synonym: "Renal failure, progressive" RELATED [HPO:skoehler] synonym: "Renal insufficiency, progressive" RELATED [] xref: MSH:D051436 xref: SNOMEDCT_US:709044004 xref: UMLS:C0748318 xref: UMLS:C1561643 is_a: HP:0000083 ! Renal insufficiency created_by: peter creation_date: 2014-01-17T01:14:52Z [Term] id: HP:0012623 name: Stage 1 chronic kidney disease def: "A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2)." [Eurenomics:fschaefer] comment: Proteinuria is commonly seen in stage 1 chronic kidney disease. xref: SNOMEDCT_US:431855005 xref: UMLS:C2316401 is_a: HP:0012622 ! Chronic kidney disease created_by: peter creation_date: 2014-01-17T01:20:48Z [Term] id: HP:0012624 name: Stage 2 chronic kidney disease def: "A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2)." [Eurenomics:fschaefer] xref: SNOMEDCT_US:431856006 xref: UMLS:C2316786 is_a: HP:0012622 ! Chronic kidney disease created_by: peter creation_date: 2014-01-17T01:22:13Z [Term] id: HP:0012625 name: Stage 3 chronic kidney disease def: "A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2)." [Eurenomics:fschaefer] xref: SNOMEDCT_US:433144002 xref: UMLS:C2316787 is_a: HP:0012622 ! Chronic kidney disease created_by: peter creation_date: 2014-01-17T01:22:43Z [Term] id: HP:0012626 name: Stage 4 chronic kidney disease def: "A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2)." [Eurenomics:fschaefer] synonym: "Stage 4 chronic kidney disease" EXACT layperson [] xref: SNOMEDCT_US:431857002 xref: UMLS:C2317473 is_a: HP:0012622 ! Chronic kidney disease created_by: peter creation_date: 2014-01-17T01:23:43Z [Term] id: HP:0012627 name: Pseudoexfoliation def: "Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor." [HPO:probinson, pmid:23157966] comment: In the eye, pseudoexfoliation syndrome is characterized by the deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor. PXM can be observed in vivo during slit lamp examination. It appears as 'dandruff-like' material in the anterior chamber or most characteristically on the anterior lens capsule deposited in a double concentric ring pattern. The rings are separated by a clear zone presumably created because of the movement of the iris on the anterior lens surface. The central ring is located at the area of the iris sphincter, while the peripheral ring is only visible after pupil dilation. PXM is also often observed by slit lamp examination at the pupillary margin, on the lens zonules and on the trabecular meshwork. The site of production of this material which is a complex of various glycoproteins is unclear, but PXM can potentially originate from the iris, lens epithelium, ciliary body, or the trabecular meshwork. xref: UMLS:C4022815 is_a: HP:0004328 ! Abnormal anterior eye segment morphology created_by: peter creation_date: 2014-01-17T10:50:32Z [Term] id: HP:0012628 name: Abnormal suspensory ligament of lens morphology def: "An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place." [HPO:probinson] synonym: "Abnormality of the suspensory ligament of lens" EXACT [] synonym: "Abnormality of zinn's membrane" EXACT [https://en.wikipedia.org/wiki/zonule_of_zinn, ORCID:0000-0001-6908-9849] synonym: "Ciliary zonule abnormality" EXACT [] synonym: "Zonule of zinn abnormality" EXACT [https://en.wikipedia.org/wiki/zonule_of_zinn, ORCID:0000-0001-6908-9849] xref: UMLS:C4021077 is_a: HP:0004328 ! Abnormal anterior eye segment morphology created_by: peter creation_date: 2014-01-17T10:59:37Z [Term] id: HP:0012629 name: Phakodonesis def: "Tremulousness (trembling) of the lens of the eye." [HPO:probinson, PMID:5472193] comment: Phacodonesis results from lesions of some or most of the zonular fibres are broken. synonym: "Phacodonesis" EXACT [] synonym: "Trembling eye lens" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:116669003 xref: UMLS:C2939415 is_a: HP:0000517 ! Abnormality of the lens created_by: peter creation_date: 2014-01-17T11:03:09Z [Term] id: HP:0012630 name: Abnormal trabecular meshwork morphology def: "An anomaly of the trabecular meshwork, which is the porelike structure surrounding the entire circumference of the anterior chamber at the base of the cornea and near the ciliary body. The trabecular mesh work is responsible for draining the aqueous humor into the canal of Schlemm." [HPO:probinson] synonym: "Abnormality of the trabecular meshwork" EXACT [] xref: UMLS:C4022814 is_a: HP:0000593 ! Abnormal anterior chamber morphology created_by: peter creation_date: 2014-01-17T11:12:27Z [Term] id: HP:0012631 name: Pigment deposition in the trabecular meshwork def: "Accumulation of abnormal amounts of pigment within the trabecular meshwork." [HPO:probinson] comment: Gonioscopy can be used to reveal pigment deposition on the trabecular meshwork. xref: UMLS:C3805899 is_a: HP:0012630 ! Abnormal trabecular meshwork morphology created_by: peter creation_date: 2014-01-17T11:15:03Z [Term] id: HP:0012632 name: Abnormal intraocular pressure def: "An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye." [HPO:probinson] synonym: "Abnormal eye pressure" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Abnormal intraocular pressure" EXACT layperson [] xref: MP:0005257 "Abnormal intraocular pressure" xref: SNOMEDCT_US:24075007 xref: UMLS:C0520999 is_a: HP:0012373 ! Abnormal eye physiology created_by: peter creation_date: 2014-01-17T11:20:17Z [Term] id: HP:0012633 name: Asymmetry of intraocular pressure def: "A difference in the amount of intraocular pressure in the right and left eye." [HPO:probinson] xref: UMLS:C3805901 is_a: HP:0012632 ! Abnormal intraocular pressure created_by: peter creation_date: 2014-01-17T11:21:18Z [Term] id: HP:0012634 name: Iris pigment dispersion def: "Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor." [HPO:probinson] comment: These pigment granules can accumulate in the trabucular meshwork and lead to increased intraocular pressure. That is coded separately as HP:001263. xref: UMLS:C4022813 is_a: HP:0008034 ! Abnormal iris pigmentation created_by: peter creation_date: 2014-01-17T11:30:02Z [Term] id: HP:0012635 name: Iris hypoperfusion def: "Reduction in the amount of blood flow to the iris." [HPO:probinson] comment: This feature can be diagnosed by iris angiography. xref: UMLS:C4022812 is_a: HP:0007905 ! Abnormal iris vasculature created_by: peter creation_date: 2014-01-17T11:41:07Z [Term] id: HP:0012636 name: Retinal vein occlusion def: "Blockage of the retinal vein." [HPO:probinson] comment: Retinal vein occlusion can lead to edema and ischemia of the retina. xref: MSH:D012170 xref: SNOMEDCT_US:46085004 xref: UMLS:C0035328 is_a: HP:0008046 ! Abnormal retinal vascular morphology created_by: peter creation_date: 2014-01-17T11:43:32Z [Term] id: HP:0012637 name: Renal calcium wasting def: "High urine calcium in the presence of hypocalcemia." [HPO:probinson] synonym: "Kidney Ca wasting" EXACT layperson [] synonym: "Kidney Ca2+ wasting" EXACT layperson [] synonym: "Kidney calcium wasting" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Renal Ca wasting" EXACT HP:0045077 [] synonym: "Renal Ca2+ wasting" EXACT HP:0045077 [] xref: UMLS:C2673441 is_a: HP:0011280 ! Abnormality of urine calcium concentration created_by: peter creation_date: 2014-01-18T04:46:41Z [Term] id: HP:0012638 name: Abnormality of nervous system physiology def: "A functional anomaly of the nervous system." [HPO:probinson] xref: UMLS:C4022811 is_a: HP:0000707 ! Abnormality of the nervous system created_by: peter creation_date: 2014-01-19T08:02:46Z [Term] id: HP:0012639 name: Abnormality of nervous system morphology def: "A structural anomaly of the nervous system." [HPO:probinson] synonym: "Abnormal nervous system morphology" EXACT [ORCID:0000-0001-5208-3432] synonym: "Abnormal shape of nervous system" EXACT layperson [ORCID:0000-0001-5208-3432] xref: Fyler:4135 xref: Fyler:4300 xref: UMLS:C4022810 is_a: HP:0000707 ! Abnormality of the nervous system created_by: peter creation_date: 2014-01-19T08:03:08Z [Term] id: HP:0012640 name: Abnormality of intracranial pressure def: "A deviation from the norm of the intracranial pressure." [HPO:probinson] comment: Intracranial pressure (i.e., the pressure inside the skull) represents the pressue in the brain tissue and in the cerebrospinal fluid (CSF). Deviations from normal are generally identified by measuring the pressure of the CSF. xref: UMLS:C4022809 is_a: HP:0012638 ! Abnormality of nervous system physiology created_by: peter creation_date: 2014-01-19T08:06:51Z [Term] id: HP:0012641 name: Decreased intracranial pressure def: "A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid." [HPO:probinson] synonym: "Intracranial hypotension" EXACT [] xref: SNOMEDCT_US:167714004 xref: SNOMEDCT_US:277657001 xref: UMLS:C0456892 is_a: HP:0012640 ! Abnormality of intracranial pressure created_by: peter creation_date: 2014-01-19T08:15:01Z [Term] id: HP:0012642 name: Cerebellar agenesis def: "Lack of development of the cerebellum." [HPO:probinson, pmid:20305277] comment: Usually, small remnants of the cerebellum are present; therefore the term subtotal cerebellar agenesis is also used in the literature. xref: UMLS:C4022808 is_a: HP:0007360 ! Aplasia/Hypoplasia of the cerebellum created_by: peter creation_date: 2014-01-22T08:14:57Z [Term] id: HP:0012643 name: Foveal hypopigmentation def: "Decreased amount of pigmentation in the fovea centralis." [HPO:probinson] xref: UMLS:C4022807 is_a: HP:0030493 ! Abnormality of foveal pigmentation created_by: peter creation_date: 2014-01-22T09:25:34Z [Term] id: HP:0012644 name: Increased caudate lactate level def: "An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging." [HPO:probinson, pmid:23810640] xref: UMLS:C4022806 is_a: HP:0002339 ! Abnormal caudate nucleus morphology created_by: peter creation_date: 2014-01-28T08:19:22Z [Term] id: HP:0012645 name: Enlarged peripheral nerve def: "Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve." [HPO:probinson] comment: This feature can be appreciated by imaging studies (magnetic resonancy tomography), by palpation along the axis of a nerve, and by biopsy, and may be caused by axonal swelling or by myelin thickening. The differential diagnosis of enlarged peripheral nerves includes leprosy, hereditary motor and sensory neuropathy type 1 (about 30% of patients), but not type 2 (the axonal form), some other polyneuropathies, neurofibromatosis, and nerve tumors. A good review is available in Practical Neurology, 2003,3:40-45 by Michael Donaghy (no pubmed id). synonym: "Enlarged peripheral nerves" RELATED [HPO:skoehler] xref: UMLS:C2675074 is_a: HP:0045010 ! Abnormality of peripheral nerves created_by: peter creation_date: 2014-02-01T12:44:16Z [Term] id: HP:0012646 name: Retractile testis def: "A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex." [HPO:probinson, pmid:23061004, pmid:4380054] synonym: "Retractile testicle" EXACT [] xref: SNOMEDCT_US:21779006 xref: UMLS:C0520578 is_a: HP:0000035 ! Abnormal testis morphology created_by: peter creation_date: 2014-02-01T12:57:41Z [Term] id: HP:0012647 name: Abnormal inflammatory response def: "Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages." [MONARCH:mhaendel] synonym: "Abnormal inflammatory response" EXACT layperson [] xref: UMLS:C4022805 is_a: HP:0010978 ! Abnormality of immune system physiology created_by: peter creation_date: 2014-02-01T01:25:42Z [Term] id: HP:0012648 name: Decreased inflammatory response def: "An abnormal reduction in the inflammatory response to injury or infection." [MONARCH:mhaendel] synonym: "Decreased inflammatory response" EXACT layperson [] xref: UMLS:C4022804 is_a: HP:0012647 ! Abnormal inflammatory response created_by: peter creation_date: 2014-02-01T01:29:24Z [Term] id: HP:0012649 name: Increased inflammatory response def: "A abnormal increase in the inflammatory response to injury or infection." [MONARCH:mhaendel] xref: UMLS:C4022803 is_a: HP:0012647 ! Abnormal inflammatory response created_by: peter creation_date: 2014-02-01T01:29:58Z [Term] id: HP:0012650 name: Perisylvian polymicrogyria def: "Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly." [COST:neuromig, HPO:probinson, pmid:15159468, PMID:20301504] comment: The Sylvian fissure (also known as the lateral sulcus) separates the frontal and parietal lobes superiorly from the temporal lobe inferiorly. xref: UMLS:C3279675 is_a: HP:0002126 ! Polymicrogyria created_by: peter creation_date: 2014-02-06T07:47:51Z [Term] id: HP:0012651 name: Abasia def: "A severe form of gait ataxia such that an affected person cannot walk at all." [HPO:probinson] xref: UMLS:C0877217 is_a: HP:0002066 ! Gait ataxia created_by: peter creation_date: 2014-02-06T07:52:50Z [Term] id: HP:0012652 name: Exercise-induced asthma def: "Asthma attacks following exercise." [HPO:probinson] synonym: "Exercise-induced asthma" EXACT layperson [] xref: MSH:D001250 xref: SNOMEDCT_US:31387002 xref: UMLS:C0004099 is_a: HP:0002099 ! Asthma created_by: peter creation_date: 2014-02-12T10:42:14Z [Term] id: HP:0012653 name: Status asthmaticus def: "Severe asthma unresponsive to repeated courses of beta-agonist therapy such as inhaled albuterol, levalbuterol, or subcutaneous epinephrine." [HPO:probinson, pmid:22794687] synonym: "Acute severe asthma" EXACT layperson [] xref: MSH:D013224 xref: SNOMEDCT_US:708090002 xref: UMLS:C0038218 is_a: HP:0002099 ! Asthma created_by: peter creation_date: 2014-02-12T10:43:34Z [Term] id: HP:0012654 name: Abnormal CSF dopamine level def: "Abnormal concentration of dopamine in the cerebrospinal fluid (CSF)." [Monarch:mhaendel] xref: UMLS:C4022802 is_a: HP:0025454 ! Abnormal CSF metabolite level created_by: peter creation_date: 2014-02-15T10:35:24Z [Term] id: HP:0012655 name: Elevated CSF dopamine level def: "Increased concentration of dopamine in the cerebrospinal fluid (CSF)." [Monarch:mhaendel] xref: UMLS:C4022801 is_a: HP:0012654 ! Abnormal CSF dopamine level created_by: peter creation_date: 2014-02-15T10:36:53Z [Term] id: HP:0012656 name: Reduced CSF dopamine level def: "Decreased concentration of dopamine in the cerebrospinal fluid (CSF)." [Monarch:mhaendel] xref: UMLS:C4022800 is_a: HP:0012654 ! Abnormal CSF dopamine level created_by: peter creation_date: 2014-02-15T10:37:27Z [Term] id: HP:0012657 name: Abnormal brain positron emission tomography def: "A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain." [HPO:probinson] comment: Note that while structural brain anomalies can cause abnormal brain PET scan results, structural abnormalities are detectable by multiple neuroimaging modalities and should be coded using terms from the hierarchy under 'Abnormality of nervous system morphology' (HP:0012639). synonym: "Abnormal brain PET scan" EXACT HP:0045077 [] xref: UMLS:C4022799 is_a: HP:0410263 ! Brain imaging abnormality created_by: peter creation_date: 2014-02-15T11:22:18Z [Term] id: HP:0012658 name: Abnormal brain FDG positron emission tomography def: "An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity." [HPO:probinson] synonym: "Abnormal brain FDG PET scan" EXACT HP:0045077 [] xref: UMLS:C4022798 is_a: HP:0012657 ! Abnormal brain positron emission tomography created_by: peter creation_date: 2014-02-15T11:29:38Z [Term] id: HP:0012659 name: Prefrontal hypometabolism in FDG PET def: "Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the prefrontal cortex as measured by positron emission tomography (PET) brain scan." [HPO:probinson, pmid:23585882] comment: Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the prefrontal cortex. xref: UMLS:C4022797 is_a: HP:0012658 ! Abnormal brain FDG positron emission tomography created_by: peter creation_date: 2014-02-15T11:33:12Z [Term] id: HP:0012660 name: Thalamic hypometabolism in FDG PET def: "Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the thalamus as measured by positron emission tomography (PET) brain scan." [HPO:probinson] comment: Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the thalamus. xref: UMLS:C4022796 is_a: HP:0012658 ! Abnormal brain FDG positron emission tomography created_by: peter creation_date: 2014-02-15T11:35:25Z [Term] id: HP:0012661 name: Hypothalamic hypometabolism in FDG PET def: "Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the hypothalamus as measured by positron emission tomography (PET) brain scan." [HPO:probinson] comment: Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the hypothalamus. xref: UMLS:C4022795 is_a: HP:0012658 ! Abnormal brain FDG positron emission tomography created_by: peter creation_date: 2014-02-15T11:37:59Z [Term] id: HP:0012662 name: Parietal hypometabolism in FDG PET def: "Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan." [HPO:probinson, pmid:15073255] comment: Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the parietal cortex. xref: UMLS:C4022794 is_a: HP:0012658 ! Abnormal brain FDG positron emission tomography created_by: peter creation_date: 2014-02-15T11:45:41Z [Term] id: HP:0012663 name: Mildly reduced ejection fraction def: "A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 50 percent, and a mild reduction is defined as 40-49 percent." [HPO:probinson, pmid:16376782, PMID:27206819] xref: UMLS:C4022793 is_a: HP:0012664 ! Reduced ejection fraction created_by: peter creation_date: 2014-02-15T01:06:28Z [Term] id: HP:0012664 name: Reduced ejection fraction def: "A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle." [HPO:probinson] comment: The normal range is at least 55 percent. xref: UMLS:C4022792 is_a: HP:0003116 ! Abnormal echocardiogram is_a: HP:0025169 ! Left ventricular systolic dysfunction created_by: peter creation_date: 2014-02-15T01:03:37Z [Term] id: HP:0012665 name: Moderately reduced ejection fraction def: "A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle." [HPO:probinson, pmid:16376782, PMID:27206819] comment: The normal range in adults is over 50 percent, and a moderate reduction can be defined as 30-39 percent. xref: UMLS:C4022791 is_a: HP:0012664 ! Reduced ejection fraction created_by: peter creation_date: 2014-02-15T01:08:33Z [Term] id: HP:0012666 name: Severely reduced ejection fraction def: "A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent." [HPO:probinson, pmid:16376782, PMID:27206819] xref: UMLS:C4022790 is_a: HP:0012664 ! Reduced ejection fraction created_by: peter creation_date: 2014-02-15T01:09:02Z [Term] id: HP:0012667 name: Regional left ventricular wall motion abnormality def: "An abnormal motion of a segment of the left ventricle during the cardiac cycle." [HPO:probinson] comment: This feature can be appreciated using color kinesis, which tracks the motion of the endocardium in real time throughout systole and results in color-encoded images reflecting the magnitude and timing of endocardial motion. xref: UMLS:C4022789 is_a: HP:0003116 ! Abnormal echocardiogram created_by: peter creation_date: 2014-02-15T01:12:48Z [Term] id: HP:0012668 name: Vasovagal syncope synonym: "Neurocardiogenic syncope" EXACT [] synonym: "Reflex syncope" EXACT [] synonym: "Situational syncope" EXACT [] xref: MSH:D013575 xref: MSH:D019462 xref: SNOMEDCT_US:234167006 xref: SNOMEDCT_US:398652001 xref: SNOMEDCT_US:398665005 xref: UMLS:C0042420 xref: UMLS:C0340854 is_a: HP:0001279 ! Syncope created_by: peter creation_date: 2014-02-15T01:33:13Z [Term] id: HP:0012669 name: Carotid sinus syncope def: "An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion." [HPO:probinson] comment: Carotid sinus syncope cam be elicited mechanical manipulation of the carotid sinuses (eg, taking pulses in the neck, shaving). xref: MSH:D013575 xref: SNOMEDCT_US:51723007 xref: UMLS:C0221046 is_a: HP:0001279 ! Syncope created_by: peter creation_date: 2014-02-15T01:39:14Z [Term] id: HP:0012670 name: Orthostatic syncope def: "Syncope following a quick change in position from lying down to standing." [HPO:probinson] xref: UMLS:C0749201 is_a: HP:0001279 ! Syncope created_by: peter creation_date: 2014-02-15T01:41:57Z [Term] id: HP:0012671 name: Abulia def: "Poverty of behavior and speech output, lack of initiative, loss of emotional responses, psychomotor slowing, and prolonged speech latency." [HPO:probinson, pmid:16030444, UToronto:HTrang] comment: Abulia is less severe thana kinetic mutism, and more so than apathy. synonym: "Aboulia" EXACT [] xref: UMLS:C0919974 is_a: HP:0000745 ! Diminished motivation created_by: peter creation_date: 2014-02-27T10:48:32Z [Term] id: HP:0012672 name: Akinetic mutism def: "Akinetic mutism is essentially characterized by a total absence of spontaneous behavior and speech occurring in the presence of preserved visual tracking." [HPO:probinson] xref: MSH:D000405 xref: SNOMEDCT_US:53333005 xref: UMLS:C0001889 is_a: HP:0000745 ! Diminished motivation created_by: peter creation_date: 2014-02-27T10:50:59Z [Term] id: HP:0012673 name: Aplasia of the upper vagina def: "A failure to develop of the upper vagina." [HPO:probinson] comment: The female reproductive tract primarily develops from the Mullerian ducts (MD), which form as an invagination of the coelomic epithelium and further develop into the upper two-thirds of the vagina, the uterus and the Fallopian tubes. Complete aplasia of the uterus, cervix, and upper vagina is termed Mullerian aplasia. This term refers to the aplasia of the upper roughly two thirds of the vagina that is characteristic of Mullerian aplasia. synonym: "Absent upper vagina" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022788 is_a: HP:0003250 ! Aplasia of the vagina created_by: peter creation_date: 2014-02-27T11:00:26Z [Term] id: HP:0012674 name: Aplasia of the lower vagina def: "A failure to develop of the lower part of the vagina." [HPO:probinson] synonym: "Absent lower vagina" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Agenesis of the lower vagina" EXACT [] xref: SNOMEDCT_US:253834007 xref: UMLS:C0431646 is_a: HP:0003250 ! Aplasia of the vagina created_by: peter creation_date: 2014-02-27T11:09:14Z [Term] id: HP:0012675 name: Iron accumulation in brain def: "An abnormal build up of iron (Fe) in brain tissue." [HPO:probinson] synonym: "Brain iron deposition" EXACT [] synonym: "Iron accumulation in brain" EXACT layperson [] xref: UMLS:C4021076 is_a: HP:0012443 ! Abnormality of brain morphology created_by: hecht creation_date: 2014-03-13T07:22:40Z [Term] id: HP:0012676 name: Copper accumulation in brain def: "An anomalous build up of copper (Cu) in the brain." [HPO:probinson] synonym: "Brain copper accumulation" EXACT [] synonym: "Copper accumulation in brain" EXACT layperson [] xref: UMLS:C4022787 is_a: HP:0012443 ! Abnormality of brain morphology is_a: HP:0032243 ! Abnormal tissue metabolite concentration creation_date: 2014-03-13T07:28:03Z [Term] id: HP:0012677 name: Iron accumulation in globus pallidus def: "An abnormal build up of iron (Fe) in the globus pallidus." [HPO:probinson] xref: UMLS:C4022786 is_a: HP:0002453 ! Abnormal globus pallidus morphology is_a: HP:0012675 ! Iron accumulation in brain created_by: hecht creation_date: 2014-03-13T07:29:37Z [Term] id: HP:0012678 name: Iron accumulation in substantia nigra def: "An anomalous build up of iron (Fe) in the substantia nigra." [HPO:probinson] xref: UMLS:C4022785 is_a: HP:0012675 ! Iron accumulation in brain is_a: HP:0045007 ! Abnormality of the substantia nigra created_by: hecht creation_date: 2014-03-13T07:29:54Z [Term] id: HP:0012679 name: Widened interpedicular distance def: "An increase in the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces." [UToronto:htrang] xref: UMLS:C4022784 is_a: HP:0008438 ! Vertebral arch anomaly created_by: peter creation_date: 2014-03-22T12:41:17Z [Term] id: HP:0012680 name: Abnormality of the pineal gland def: "An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin." [HPO:probinson] xref: UMLS:C4022783 is_a: HP:0000818 ! Abnormality of the endocrine system created_by: peter creation_date: 2014-03-22T12:46:36Z [Term] id: HP:0012681 name: Abnormality of pineal morphology def: "A structural abnormality of the pineal gland." [UToronto:htrang] comment: The pineal gland typically measures 7 x 6 x 3mm in size and is located in a groove between the laterally placed thalamic bodies. xref: UMLS:C4022782 is_a: HP:0012443 ! Abnormality of brain morphology is_a: HP:0012680 ! Abnormality of the pineal gland created_by: peter creation_date: 2014-03-22T12:50:21Z [Term] id: HP:0012682 name: Pineal gland calcification def: "Accumulation of calcium salts in the pineal gland." [HPO:probinson] comment: This feature can be appreciated on skull radiography. xref: UMLS:C1398718 is_a: HP:0012681 ! Abnormality of pineal morphology created_by: peter creation_date: 2014-03-22T12:51:57Z [Term] id: HP:0012683 name: Pineal cyst def: "A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland." [HPO:probinson, pmid:21801982] comment: Pineal cysts are benign and often asymptomatic lesions. They are typically visualized by computed tomography or magnetic resonance imaging. xref: SNOMEDCT_US:413099000 xref: UMLS:C1335411 is_a: HP:0012681 ! Abnormality of pineal morphology created_by: peter creation_date: 2014-03-22T01:01:45Z [Term] id: HP:0012684 name: Abnormal pineal volume def: "An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland." [UToronto:htrang] comment: This feature is typically assessed by magnetic resonance tomography of the brain. xref: UMLS:C4022781 is_a: HP:0012681 ! Abnormality of pineal morphology created_by: peter creation_date: 2014-03-22T01:08:48Z [Term] id: HP:0012685 name: Decreased pineal volume def: "An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland." [pmid:24456088, UToronto:htrang] xref: UMLS:C4022780 is_a: HP:0012684 ! Abnormal pineal volume created_by: peter creation_date: 2014-03-22T01:10:12Z [Term] id: HP:0012686 name: Increased pineal volume def: "An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland." [UToronto:htrang] xref: UMLS:C4022779 is_a: HP:0012684 ! Abnormal pineal volume created_by: peter creation_date: 2014-03-22T01:11:33Z [Term] id: HP:0012687 name: Agenesis of pineal gland def: "Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present." [UToronto:htrang] xref: UMLS:C3553078 is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system is_a: HP:0012681 ! Abnormality of pineal morphology created_by: peter creation_date: 2014-03-22T01:13:13Z [Term] id: HP:0012688 name: Abnormality of pineal physiology def: "A functional abnormality of the pineal gland." [UToronto:htrang] xref: UMLS:C4022778 is_a: HP:0012638 ! Abnormality of nervous system physiology is_a: HP:0012680 ! Abnormality of the pineal gland created_by: peter creation_date: 2014-03-22T01:15:36Z [Term] id: HP:0012689 name: Abnormal pineal melatonin secretion def: "An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland." [pmid:22724080, UToronto:htrang] comment: The rhythm of melatonin synthesized in and released from the pineal gland is characterized by a prominent nocturnal peak, which also contains temporal information that had originated in the suprachiasmatic nucleus. Strong reductions of circulating melatonin are also observed in numerous disorders and diseases, including Alzheimer's disease, various other neurological and stressful conditions, pain, cardiovascular diseases, cases of cancer, endocrine and metabolic disorders, in particular diabetes type 2. xref: UMLS:C4022777 is_a: HP:0012688 ! Abnormality of pineal physiology created_by: peter creation_date: 2014-03-22T01:16:40Z [Term] id: HP:0012690 name: T2 hypointense thalamus def: "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus." [HPO:probinson] xref: UMLS:C4022776 is_a: HP:0012696 ! Abnormal thalamic MRI signal intensity created_by: peter creation_date: 2014-03-22T04:32:50Z [Term] id: HP:0012691 name: Focal T2 hypointense thalamic lesion def: "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus." [HPO:probinson] xref: UMLS:C4022775 is_a: HP:0012696 ! Abnormal thalamic MRI signal intensity created_by: peter creation_date: 2014-03-22T04:52:32Z [Term] id: HP:0012692 name: Focal T2 hyperintense thalamic lesion def: "A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus." [HPO:probinson] comment: The term "unidentified bright object" has been used to describe T2 hyperintense lesions in the thalamus and elsewhere in patients with neurofibromatosis. xref: UMLS:C4022774 is_a: HP:0012696 ! Abnormal thalamic MRI signal intensity created_by: peter creation_date: 2014-03-22T04:54:03Z [Term] id: HP:0012693 name: Abnormal thalamic size def: "Deviation from the normal range of size of the thalamus." [UToronto:htrang] xref: UMLS:C4022773 is_a: HP:0010663 ! Abnormality of thalamus morphology created_by: peter creation_date: 2014-03-22T05:45:51Z [Term] id: HP:0012694 name: Enlarged thalamic volume def: "An increase in the quantity of space occupied by the thalamus." [UToronto:htrang] xref: UMLS:C4022772 is_a: HP:0012693 ! Abnormal thalamic size created_by: peter creation_date: 2014-03-22T05:47:14Z [Term] id: HP:0012695 name: Decreased thalamic volume def: "A reduction in the quantity of space occupied by the thalamus." [UToronto:htrang] xref: UMLS:C4022771 is_a: HP:0012693 ! Abnormal thalamic size created_by: peter creation_date: 2014-03-22T05:48:28Z [Term] id: HP:0012696 name: Abnormal thalamic MRI signal intensity def: "A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus." [HPO:probinson] xref: UMLS:C4022770 is_a: HP:0010663 ! Abnormality of thalamus morphology created_by: peter creation_date: 2014-03-22T05:49:08Z [Term] id: HP:0012697 name: Small basal ganglia def: "Decreased size of the basal ganglia." [HPO:probinson] xref: UMLS:C4022769 is_a: HP:0002134 ! Abnormality of the basal ganglia created_by: peter creation_date: 2014-03-22T06:01:22Z [Term] id: HP:0012698 name: Cerebellar gliosis def: "Focal proliferation of glial cells in the cerebellum." [UToronto:htrang] xref: UMLS:C4022768 is_a: HP:0001317 ! Abnormal cerebellum morphology is_a: HP:0002171 ! Gliosis created_by: peter creation_date: 2014-03-22T06:03:03Z [Term] id: HP:0012699 name: Anomaly of lower limb diaphyses def: "A structural abnormality of a diaphysis of the leg." [UToronto:htrang] synonym: "Anomaly of shaft of long bone of lower limb" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022767 is_a: HP:0006504 ! Anomaly of the limb diaphyses created_by: peter creation_date: 2014-03-22T06:14:15Z [Term] id: HP:0012700 name: Abnormal large intestine physiology def: "A functional anomaly of the large intestine." [HPO:probinson] xref: UMLS:C4022766 is_a: HP:0025032 ! Abnormality of digestive system physiology created_by: peter creation_date: 2014-03-22T06:20:38Z [Term] id: HP:0012701 name: Bowel urgency def: "A sudden, irresistible need to have a bowel movement." [UToronto:htrang] synonym: "Fecal urgency" EXACT [] xref: SNOMEDCT_US:71820002 xref: UMLS:C0426636 is_a: HP:0012700 ! Abnormal large intestine physiology created_by: peter creation_date: 2014-03-22T06:22:14Z [Term] id: HP:0012702 name: Tenesmus def: "A repeated, painful urge to defecate without excreting stool." [HPO:probinson] xref: SNOMEDCT_US:267053000 xref: SNOMEDCT_US:6548007 xref: UMLS:C0232726 is_a: HP:0012700 ! Abnormal large intestine physiology created_by: peter creation_date: 2014-03-22T06:23:05Z [Term] id: HP:0012703 name: Abnormal subarachnoid space morphology def: "Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid." [UToronto:htrang] synonym: "Abnormality of the subarachnoid space" EXACT [] xref: UMLS:C4022765 is_a: HP:0002011 ! Morphological abnormality of the central nervous system created_by: peter creation_date: 2014-03-22T07:45:24Z [Term] id: HP:0012704 name: Widened subarachnoid space def: "An increase in size of the anatomic space between the arachnoid membrane and pia mater." [HPO:probinson] synonym: "Enlarged subarachnoid space" EXACT [] synonym: "Widened subarachnoid spaces" RELATED [HPO:skoehler] xref: UMLS:C1846151 is_a: HP:0012703 ! Abnormal subarachnoid space morphology created_by: peter creation_date: 2014-03-22T07:59:21Z [Term] id: HP:0012705 name: Abnormal metabolic brain imaging by MRS def: "An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS)." [HPO:probinson] comment: MRS can only detect a few metabolites as least millimolar concentrations are necessary for the metabolites to be detected. The major brain metabolites detected are choline (Cho), creatine (Cr), N-acetyl aspartate (NAA), lactate, myo-inositol, glutamine and glutamate, lipids, and the amino acids leucine and alanine. xref: UMLS:C4022764 is_a: HP:0410263 ! Brain imaging abnormality created_by: peter creation_date: 2014-03-22T08:04:18Z [Term] id: HP:0012706 name: Elevated brain choline level by MRS def: "An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS)." [UToronto:htrang] comment: The Choline (Cho) peak is a heterogeneous peak representing various choline-containing compounds such as acetylcholine, phosphocholine (lecithin), glycerophosphocholine, and various other intermediates of phospholipids metabolism. It is an indicator of cell density and cell wall turnover. Elevated levels are found in tumors, especially malignant ones, and in certain demyelinating diseases. Choline resonance presents at 3.22 ppm. Studies have shown there is also a direct association between Cho and levels of Ki-67, a protein expressed in all phases of the cell cycle except GO that serves as a good marker for cellular proliferation. This observation makes Cho a reliable predictor of cellular activity in tumor tissue. xref: UMLS:C4022763 is_a: HP:0025047 ! Abnormal brain choline level by MRS created_by: peter creation_date: 2014-03-22T08:06:29Z [Term] id: HP:0012707 name: Elevated brain lactate level by MRS def: "An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS)." [UToronto:htrang] comment: Lactate (Lac) is absent in normal brain tissue and its presence is indicative of anerobic glycolysis at the cellular level. Elevated levels are associated with ischemic conditions or metabolic disorders (where anerobic glycolysis predominates) but is also noted at the edges of large brain tumours. The peak is very sensitive to the technique employed and unless the correct echo time is employed, it may be artifactually suppressed. The spectral peak lies at 1:33 ppm. The peak is often inverted or bifid. xref: UMLS:C4022762 is_a: HP:0025045 ! Abnormal brain lactate level by MRS created_by: peter creation_date: 2014-03-22T08:08:20Z [Term] id: HP:0012708 name: Reduced brain N-acetyl aspartate level by MRS def: "A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS)." [UToronto:htrang] comment: N-Acetyl Aspartate (NAA) is an amino acid found exclusively in neurons. It is regarded as a non-specific marker and is thought to be involved in Coenzyme A interactions and lipogenesis within the brain. It is a marker of neuronal viability. Normal NAA concentration is in the range of 8-9 mmol/kg in healthy adult brain. Concentrations are decreased in conditions leading to axonal injury or neuronal loss. NAA is also decreased in other conditions such as neoplasm, infarction, and inflammatory conditions such as multiple sclerosis. NAA peak is seen at 2.0 ppm (parts per million) on MR spectra. synonym: "Reduced brain N-acetyl aspartate level by magnetic resonance spectroscopy" EXACT [] xref: UMLS:C4022761 is_a: HP:0025052 ! Abnormal brain N-acetyl aspartate level by MRS created_by: peter creation_date: 2014-03-22T08:09:12Z [Term] id: HP:0012709 name: Abnormal brain choline/creatine ratio by MRS def: "A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS)." [UToronto:htrang] comment: Creatine (Cr) is related to cell energy pathways, being both the substrate and product of creatine kinase. Creatine reflects the energy potential available in brain tissue. Its concentration in normal brain remains very high and stable due to high metabolic energy needs of brain cells. Its peak is noticed at 3.0 ppm. Creatine-Choline ratios are an important indicator of disease states such as demyelization. xref: UMLS:C4022760 is_a: HP:0012705 ! Abnormal metabolic brain imaging by MRS created_by: peter creation_date: 2014-03-22T08:12:15Z [Term] id: HP:0012710 name: Ingrown nail def: "Excessive growth of a nail laterally into the nail fold." [HPO:probinson] synonym: "Ingrown nail" EXACT layperson [] xref: MSH:D009263 xref: SNOMEDCT_US:400097005 xref: SNOMEDCT_US:400200009 xref: UMLS:C0027343 is_a: HP:0001597 ! Abnormality of the nail created_by: peter creation_date: 2014-03-23T12:09:47Z [Term] id: HP:0012711 name: Delayed ossification of vertebral epiphysis def: "A delay in the process of formation and maturation of the epiphysis of one or more vertebrae." [HPO:probinson] synonym: "Delayed maturation of the end part of the vertebral bone" RELATED layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022759 xref: UMLS:C4280312 is_a: HP:0100569 ! Abnormally ossified vertebrae created_by: peter creation_date: 2014-03-23T12:27:51Z [Term] id: HP:0012712 name: Mild hearing impairment def: "The presence of a mild form of hearing impairment." [HPO:probinson] synonym: "Mild hearing impairment" EXACT layperson [] xref: UMLS:C4022758 is_a: HP:0000365 ! Hearing impairment created_by: peter creation_date: 2014-03-23T12:33:46Z [Term] id: HP:0012713 name: Moderate hearing impairment def: "The presence of a moderate form of hearing impairment." [HPO:probinson] synonym: "Moderate hearing impairment" EXACT layperson [] xref: UMLS:C4022757 is_a: HP:0000365 ! Hearing impairment created_by: peter creation_date: 2014-03-23T12:35:59Z [Term] id: HP:0012714 name: Severe hearing impairment def: "A severe form of hearing impairment." [HPO:probinson] synonym: "Severe deafness" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Severe hearing impairment" EXACT layperson [] synonym: "Severe hearing loss" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:3561000119106 xref: UMLS:C3874334 is_a: HP:0000365 ! Hearing impairment created_by: peter creation_date: 2014-03-23T12:37:33Z [Term] id: HP:0012715 name: Profound hearing impairment def: "A profound (essentially complete) form of hearing impairment." [HPO:probinson] synonym: "Profound hearing impairment" EXACT layperson [] xref: UMLS:C4022756 is_a: HP:0000365 ! Hearing impairment created_by: peter creation_date: 2014-03-23T12:38:39Z [Term] id: HP:0012716 name: Moderate conductive hearing impairment def: "The presence of a moderate form of conductive hearing impairment." [HPO:probinson] comment: Conductive hearing impairment with 21-40 dB deficit. synonym: "Conductive hearing loss, moderate" EXACT [] xref: UMLS:C4021075 is_a: HP:0000405 ! Conductive hearing impairment is_a: HP:0012712 ! Mild hearing impairment is_a: HP:0012713 ! Moderate hearing impairment created_by: peter creation_date: 2014-03-23T12:40:05Z [Term] id: HP:0012717 name: Severe conductive hearing impairment def: "A severe form of conductive hearing impairment." [HPO:probinson] comment: Conductive hearing impairment with 21-40 dB deficit. synonym: "Conductive hearing loss, severe" EXACT [] xref: UMLS:C4021074 is_a: HP:0000405 ! Conductive hearing impairment is_a: HP:0012712 ! Mild hearing impairment is_a: HP:0012714 ! Severe hearing impairment created_by: peter creation_date: 2014-03-23T12:40:51Z [Term] id: HP:0012718 name: Morphological abnormality of the gastrointestinal tract def: "Abnormal structure of the gastrointestinal tract." [HPO:probinson] synonym: "Abnormal shape of the digestive system" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Morphological abnormality of the GI tract" EXACT HP:0045077 [] synonym: "Morphological anomaly of the digestive system" EXACT [] xref: UMLS:C4021073 is_a: HP:0011024 ! Abnormality of the gastrointestinal tract is_a: HP:0025033 ! Abnormality of digestive system morphology created_by: peter creation_date: 2014-03-23T01:09:02Z [Term] id: HP:0012719 name: Functional abnormality of the gastrointestinal tract def: "Abnormal functionality of the gastrointestinal tract." [HPO:probinson] synonym: "Functional abnormality of the GI tract" EXACT HP:0045077 [] synonym: "GI dysfunction" EXACT [https://orcid.org/0000-0001-5208-3432] xref: UMLS:C4022755 is_a: HP:0011024 ! Abnormality of the gastrointestinal tract is_a: HP:0025032 ! Abnormality of digestive system physiology created_by: peter creation_date: 2014-03-23T01:10:47Z [Term] id: HP:0012720 name: Neoplasm of the nose alt_id: HP:0100637 def: "Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity." [HPO:probinson] synonym: "Nasal neoplasm" EXACT [] synonym: "Nasal tumor" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Neoplasia of the nose" EXACT [] synonym: "Nose cancer" EXACT layperson [] synonym: "Tumor of the nose" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D009669 xref: NCIT:C3262 xref: SNOMEDCT_US:126669004 xref: UMLS:C0028433 xref: UMLS:C0751394 is_a: HP:0012289 ! Facial neoplasm is_a: HP:0100630 ! Neoplasia of the nasopharynx created_by: peter creation_date: 2014-03-23T01:16:06Z [Term] id: HP:0012721 name: Venous malformation def: "A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region." [HPO:probinson] comment: Venous malformations are always present at birth, and usually involve the skin of the face, limbs, or trunk. synonym: "Venous malformations" EXACT [HPO:skoehler] xref: SNOMEDCT_US:297222002 xref: UMLS:C2937220 is_a: HP:0002624 ! Abnormal venous morphology created_by: peter creation_date: 2014-03-23T01:20:33Z [Term] id: HP:0012722 name: Heart block def: "Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway." [HPO:probinson] xref: MSH:D006327 xref: SNOMEDCT_US:233916004 xref: UMLS:C0018794 is_a: HP:0031546 ! Cardiac conduction abnormality created_by: peter creation_date: 2014-03-23T01:32:14Z [Term] id: HP:0012723 name: Sinoatrial block def: "Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria." [HPO:probinson] comment: Sinoatrial block is characterized by a delayed in heartbeat and pauses between P waves as demonstrated by electrocardiography. xref: Fyler:7014 xref: MSH:D012848 xref: SNOMEDCT_US:65778007 xref: UMLS:C0037188 is_a: HP:0011702 ! Abnormal electrophysiology of sinoatrial node origin is_a: HP:0012722 ! Heart block created_by: peter creation_date: 2014-03-23T01:34:01Z [Term] id: HP:0012724 name: Upper eyelid edema def: "Edema in the region of the upper eyelid." [HPO:probinson] synonym: "Cellulitis of upper eyelid" EXACT [ORCID:0000-0001-5889-4463] synonym: "Fullness of upper eyelid" EXACT layperson [] synonym: "Puffiness of upper eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Swelling of upper eyelid" EXACT layperson [] xref: SNOMEDCT_US:700339006 xref: UMLS:C2025988 xref: UMLS:C3839407 is_a: HP:0100540 ! Palpebral edema created_by: peter creation_date: 2014-03-23T01:38:57Z [Term] id: HP:0012725 name: Cutaneous syndactyly def: "A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits." [HPO:probinson] synonym: "Cutaneous syndactyly of digits" EXACT [] synonym: "Syndactyly, cutaneous" EXACT [] xref: UMLS:C1861921 is_a: HP:0001159 ! Syndactyly created_by: peter creation_date: 2014-03-23T01:40:45Z [Term] id: HP:0012726 name: Episodic hypokalemia def: "An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes." [HPO:probinson] synonym: "Recurrent low potassium" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4022754 is_a: HP:0002900 ! Hypokalemia created_by: peter creation_date: 2014-03-23T02:08:24Z [Term] id: HP:0012727 name: Thoracic aortic aneurysm def: "An abnormal localized widening (dilatation) of the thoracic aorta." [HPO:probinson] comment: Aneurysm is considered a severe form of dilatation. synonym: "Dilatation of the thoracic aorta" BROAD [] xref: MSH:D017545 xref: SNOMEDCT_US:433068007 xref: UMLS:C0162872 is_a: HP:0004942 ! Aortic aneurysm created_by: peter creation_date: 2014-03-23T02:22:20Z [Term] id: HP:0012728 name: Fusiform descending thoracic aortic aneurysm def: "A concentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves the full circumference of the vessel wall" [HPO:probinson] comment: Aneurysm is considered a severe form of dilatation. synonym: "Dilatation of the fusiform descending thoracic aorta" BROAD [] xref: UMLS:C4022753 is_a: HP:0004959 ! Descending thoracic aorta aneurysm created_by: peter creation_date: 2014-03-23T02:26:12Z [Term] id: HP:0012729 name: Saccular descending thoracic aortic aneurysm def: "An eccentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves only a portion of the circumference of the vessel wall" [HPO:probinson] comment: Aneurysm is considered a severe form of dilatation. synonym: "Dilatation of the saccular descending thoracic aorta" BROAD [] xref: UMLS:C4022752 is_a: HP:0004959 ! Descending thoracic aorta aneurysm created_by: peter creation_date: 2014-03-23T02:27:11Z [Term] id: HP:0012730 name: Aglossia def: "Absence of the tongue owing to a developmental abnormality." [HPO:probinson] synonym: "Absence of tongue" EXACT [] synonym: "Failure of development of tongue" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Missing tongue" BROAD layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:74788000 xref: UMLS:C0158663 is_a: HP:0010295 ! Aplasia/Hypoplasia of the tongue created_by: peter creation_date: 2014-03-23T02:30:53Z [Term] id: HP:0012731 name: Ectopic anterior pituitary gland alt_id: HP:0011765 def: "Abnormal anatomic location of the anterior pituitary gland." [HPO:probinson] xref: UMLS:C4022751 is_a: HP:0011747 ! Abnormality of the anterior pituitary created_by: peter creation_date: 2014-03-23T02:41:41Z [Term] id: HP:0012732 name: Anorectal anomaly def: "An abnormality of the anus or rectum." [HPO:probinson] xref: MSH:D000071056 xref: SNOMEDCT_US:33225004 xref: UMLS:C3495676 is_a: HP:0012718 ! Morphological abnormality of the gastrointestinal tract created_by: peter creation_date: 2014-03-23T02:48:00Z [Term] id: HP:0012733 name: Macule def: "A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin." [HPO:probinson] synonym: "Flat, discolored area of skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:112629002 xref: UMLS:C0332573 is_a: HP:0011355 ! Localized skin lesion created_by: peter creation_date: 2014-03-23T02:54:25Z [Term] id: HP:0012734 name: Ketotic hypoglycemia def: "Low blood glucose is accompanied by elevated levels of ketone bodies in the body." [HPO:probinson] synonym: "Ketotic low blood sugar" EXACT [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:20825002 xref: UMLS:C0271713 is_a: HP:0001943 ! Hypoglycemia created_by: peter creation_date: 2014-03-23T03:00:50Z [Term] id: HP:0012735 name: Cough def: "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation." [HPO:probinson, PMID:17540788] comment: The European Respiratory Society Task Force recommended two possible definitions of cough: (1) A three-phase expulsive motor act characterized by an inspiratory effort (inspiratory phase) followed by a forced expiratory effort against a closed glottis (compressive phase) and then by opening of the glottis and rapid expiratory airflow (expulsive phase);and (2) A forced expiratory manoeuvre, usually against a closed glottis and associated with a characteristic sound. The term Cough or any of its more specific descendents can be modified by the terms Acute (HP:0011009), Subacute (HP:0011011), and Chronic (HP:0011010). There is agreement that an actue cough lasts less than 3 weeks, a subacute cough from 3 to 8 weeks, and a chronic cough longer than 8 weeks. synonym: "Cough" EXACT layperson [] synonym: "Coughing" EXACT layperson [] xref: MSH:D003371 xref: SNOMEDCT_US:263731006 xref: SNOMEDCT_US:272039006 xref: SNOMEDCT_US:49727002 xref: UMLS:C0010200 is_a: HP:0002795 ! Functional respiratory abnormality created_by: peter creation_date: 2014-03-23T03:19:50Z [Term] id: HP:0012736 name: Profound global developmental delay def: "A profound delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth] synonym: "Global developmental delay, profound" EXACT [] synonym: "Psychomotor retardation, profound" RELATED [HPO:skoehler] xref: UMLS:C1855773 xref: UMLS:C3553450 is_a: HP:0001263 ! Global developmental delay created_by: peter creation_date: 2014-03-23T03:21:25Z [Term] id: HP:0012737 name: Small intestinal polyp def: "A discrete abnormal tissue mass that protrudes into the lumen of the small intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base." [HPO:probinson] xref: SNOMEDCT_US:399723004 xref: UMLS:C1302645 is_a: HP:0005266 ! Intestinal polyp is_a: HP:0100833 ! Neoplasm of the small intestine created_by: peter creation_date: 2014-03-23T03:50:25Z [Term] id: HP:0012738 name: Agenesis of canine def: "Agenesis of canine tooth." [HPO:probinson] synonym: "Absence of canine" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Absence of eye tooth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Absent canines" EXACT layperson [] synonym: "Failure of development of canine" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of eye tooth" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing canine" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Missing eye tooth" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021072 xref: UMLS:C4280311 is_a: HP:0001592 ! Selective tooth agenesis is_a: HP:0011078 ! Abnormality of canine created_by: peter creation_date: 2014-03-23T04:26:04Z [Term] id: HP:0012739 name: Agenesis of the small intestine def: "Failure to develop of the small intestine." [HPO:probinson] synonym: "Small bowel agenesis" EXACT [] synonym: "Undeveloped small intestine" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4021071 is_a: HP:0002244 ! Abnormality of the small intestine created_by: peter creation_date: 2014-03-23T04:28:53Z [Term] id: HP:0012740 name: Papilloma def: "A tumor of the skin or mucous membrane with finger-like projections." [HPO:probinson] comment: The vast majority of papillomas are benign. Papillomas on the skin (cutaneous papillomas) are commonly referred to as warts. xref: MSH:D010212 xref: SNOMEDCT_US:23730008 xref: SNOMEDCT_US:711329002 xref: UMLS:C0030354 is_a: HP:0008069 ! Neoplasm of the skin created_by: peter creation_date: 2014-03-23T04:36:41Z [Term] id: HP:0012741 name: Unilateral cryptorchidism def: "Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum." [HPO:probinson] synonym: "Cryptorchidism, unilateral" EXACT [] xref: MSH:D003456 xref: SNOMEDCT_US:268227001 xref: UMLS:C0431664 is_a: HP:0000028 ! Cryptorchidism created_by: peter creation_date: 2014-03-23T04:41:57Z [Term] id: HP:0012742 name: Thin fingernail alt_id: HP:0040037 def: "Fingernail that appears thin when viewed on end." [HPO:probinson, pmid:19125433] comment: No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males (http://www.emedicine.com/orthoped/topic421.htm). Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it include other characteristics besides thin nails, it should not be used to indicate this. The affected digits should be specified. synonym: "Thin fingernail" EXACT layperson [] xref: UMLS:C4022750 is_a: HP:0001231 ! Abnormal fingernail morphology is_a: HP:0001816 ! Thin nail created_by: peter creation_date: 2014-03-23T04:47:40Z [Term] id: HP:0012743 name: Abdominal obesity def: "Excessive fat around the stomach and abdomen." [HPO:probinson] synonym: "Abdominal obesity" EXACT layperson [] synonym: "Central obesity" EXACT layperson [HPO:skoehler] xref: MSH:D056128 xref: SNOMEDCT_US:248311001 xref: UMLS:C0311277 is_a: HP:0001513 ! Obesity created_by: peter creation_date: 2014-03-23T05:00:05Z [Term] id: HP:0012744 name: Femoral aplasia def: "Failure of the femur to develop." [HPO:probinson] synonym: "Absent femur" EXACT [] synonym: "Absent thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia of the femur" EXACT [] xref: SNOMEDCT_US:47276000 xref: UMLS:C0265629 is_a: HP:0005613 ! Aplasia/hypoplasia of the femur created_by: peter creation_date: 2014-03-23T05:14:34Z [Term] id: HP:0012745 name: Short palpebral fissure def: "Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures." [pmid:19125427] subset: hposlim_core synonym: "Decreased height of palpebral fissure" EXACT [ORCID:0000-0001-5889-4463] synonym: "Short opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Short palpebral fissures" EXACT [HPO:skoehler] xref: SNOMEDCT_US:246802000 xref: UMLS:C0423112 is_a: HP:0200007 ! Abnormal size of the palpebral fissures created_by: peter creation_date: 2014-03-23T05:27:40Z [Term] id: HP:0012746 name: Thin toenail alt_id: HP:0040038 def: "Toenail that appears thin when viewed on end." [HPO:probinson, pmid:19125433] comment: No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males (http://www.emedicine.com/orthoped/topic421.htm). Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it include other characteristics besides thin nails, it should not be used to indicate this. The affected digits should be specified. synonym: "Thin toenail" EXACT layperson [] synonym: "Thin toenails" RELATED layperson [HPO:skoehler] xref: UMLS:C3554113 is_a: HP:0001816 ! Thin nail is_a: HP:0008388 ! Abnormal toenail morphology created_by: peter creation_date: 2014-03-23T05:34:43Z [Term] id: HP:0012747 name: Abnormal brainstem MRI signal intensity def: "A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem." [UToronto:htrang] xref: UMLS:C4022749 is_a: HP:0002363 ! Abnormality of brainstem morphology created_by: peter creation_date: 2014-03-30T06:41:13Z [Term] id: HP:0012748 name: Focal T2 hyperintense brainstem lesion def: "A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem." [UToronto:htrang] xref: UMLS:C4022748 is_a: HP:0012747 ! Abnormal brainstem MRI signal intensity created_by: peter creation_date: 2014-03-30T06:43:06Z [Term] id: HP:0012749 name: Focal T2 hypointense brainstem lesion def: "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem." [UToronto:htrang] xref: UMLS:C4022747 is_a: HP:0012747 ! Abnormal brainstem MRI signal intensity created_by: peter creation_date: 2014-03-30T06:43:56Z [Term] id: HP:0012750 name: T2 hypointense brainstem def: "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a diffuse hypointensity affecting the entire brainstem." [UToronto:htrang] xref: UMLS:C4022746 is_a: HP:0012747 ! Abnormal brainstem MRI signal intensity created_by: peter creation_date: 2014-03-30T06:44:29Z [Term] id: HP:0012751 name: Abnormal basal ganglia MRI signal intensity def: "A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia." [UToronto:htrang] xref: UMLS:C4022745 is_a: HP:0002134 ! Abnormality of the basal ganglia created_by: peter creation_date: 2014-03-30T06:47:28Z [Term] id: HP:0012752 name: Focal T2 hypointense basal ganglia lesion def: "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia." [HPO:probinson] xref: UMLS:C4022744 is_a: HP:0012751 ! Abnormal basal ganglia MRI signal intensity created_by: peter creation_date: 2014-03-30T06:52:14Z [Term] id: HP:0012753 name: T2 hypointense basal ganglia def: "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia." [HPO:probinson] xref: UMLS:C4022743 is_a: HP:0012751 ! Abnormal basal ganglia MRI signal intensity created_by: peter creation_date: 2014-03-30T06:52:42Z [Term] id: HP:0012754 name: CNS hypermyelination def: "Increased amount of myelin in the central nervous system." [UToronto:htrang] xref: UMLS:C4022742 is_a: HP:0011400 ! Abnormal CNS myelination created_by: peter creation_date: 2014-03-30T07:15:56Z [Term] id: HP:0012755 name: Enlarged brainstem def: "Abnormal increase in size of the brainstem." [UToronto:htrang] comment: An enlarged brainstem may be observed with diffuse infiltrating tumor, PNET (primitive neuroectodermal tumor), ganglionoma, hamartoma, vascular malformation, or inflammatory process. xref: UMLS:C4022741 is_a: HP:0002363 ! Abnormality of brainstem morphology created_by: peter creation_date: 2014-03-30T07:23:06Z [Term] id: HP:0012756 name: CSF polymorphonuclear pleocytosis def: "An increased polymorphonuclear cell count in the cerebrospinal fluid." [KI:phemming] xref: UMLS:C4022740 is_a: HP:0012229 ! CSF pleocytosis created_by: peter creation_date: 2014-04-02T01:07:51Z [Term] id: HP:0012757 name: Abnormal neuron morphology def: "A structural anomaly of a neuron." [KI:phemming] synonym: "Abnormal neuron shape" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormal neuronal morphology" EXACT [] xref: UMLS:C4022739 is_a: HP:0012639 ! Abnormality of nervous system morphology created_by: peter creation_date: 2014-04-02T05:12:30Z [Term] id: HP:0012758 name: Neurodevelopmental delay xref: UMLS:C4022738 is_a: HP:0012759 ! Neurodevelopmental abnormality created_by: peter creation_date: 2014-04-03T12:16:19Z [Term] id: HP:0012759 name: Neurodevelopmental abnormality def: "A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities." [KI:phemming] comment: This term should be used to describe abnormalities with onset in the developmental period. xref: UMLS:C4022737 is_a: HP:0012638 ! Abnormality of nervous system physiology created_by: peter creation_date: 2014-04-03T12:20:28Z [Term] id: HP:0012760 name: Impaired social reciprocity def: "A reduced ability to participate in the back and forth flow of social interaction, which is normally characterized by an influence of the behavior of one person on the behavior of another person who is in conversation with the first." [KI:phemming] xref: UMLS:C4022736 is_a: HP:0012433 ! Abnormal social behavior created_by: peter creation_date: 2014-04-03T12:52:44Z [Term] id: HP:0012761 name: Absent mastoid alt_id: HP:0200110 def: "A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent." [HPO:probinson] synonym: "Absent mastoids" EXACT [] synonym: "Failure of development of mastoid" EXACT [ORCID:0000-0001-5889-4463] synonym: "Mastoid agenesis" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4021070 is_a: HP:0000264 ! Abnormality of the mastoid created_by: peter creation_date: 2014-04-03T01:06:18Z [Term] id: HP:0012762 name: Cerebral white matter atrophy def: "The presence of atrophy (wasting) of the cerebral white matter." [UToronto:htrang] xref: UMLS:C4022735 is_a: HP:0002500 ! Abnormality of the cerebral white matter created_by: hecht creation_date: 2014-04-06T10:55:36Z [Term] id: HP:0012763 name: Paroxysmal dyspnea def: "A sudden attack of dyspnea that occurs while the affected person is at rest." [HPO:probinson] comment: Paroxysmal nocturnal dyspnea (PND) is a sensation of shortness of breath that awakens the patient, often after 1 or 2 hours of sleep, and is usually relieved in the upright position. xref: MSH:D004418 xref: SNOMEDCT_US:59265000 xref: UMLS:C0013405 is_a: HP:0002094 ! Dyspnea created_by: hecht creation_date: 2014-04-06T10:58:39Z [Term] id: HP:0012764 name: Orthopnea def: "A sensation of breathlessness in the recumbent position, relieved by sitting or standing." [UToronto:htrang] xref: SNOMEDCT_US:62744007 xref: UMLS:C0085619 is_a: HP:0002094 ! Dyspnea created_by: hecht creation_date: 2014-04-06T11:03:04Z [Term] id: HP:0012765 name: Widened cerebellar subarachnoid space def: "An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum." [UToronto:htrang] xref: UMLS:C4022734 is_a: HP:0012704 ! Widened subarachnoid space created_by: hecht creation_date: 2014-04-06T11:06:46Z [Term] id: HP:0012766 name: Widened cerebral subarachnoid space def: "An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum." [UToronto:htrang] xref: UMLS:C4022733 is_a: HP:0012704 ! Widened subarachnoid space created_by: hecht creation_date: 2014-04-06T11:08:12Z [Term] id: HP:0012767 name: Abnormal placental size def: "A deviation from normal size of the placenta." [HPO:probinson] xref: UMLS:C4022732 is_a: HP:0100767 ! Abnormality of the placenta created_by: peter creation_date: 2014-04-07T12:11:29Z [Term] id: HP:0012768 name: Neonatal asphyxia def: "Respiratory failure in the newborn." [HPO:probinson] synonym: "Asphyxia neonatorum" EXACT [] xref: MSH:D001238 xref: SNOMEDCT_US:28314004 xref: SNOMEDCT_US:413654009 xref: UMLS:C0004045 is_a: HP:0002643 ! Neonatal respiratory distress created_by: peter creation_date: 2014-04-07T12:39:08Z [Term] id: HP:0012769 name: Abnormal arm span def: "A deviation from normal of the length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle)" [HPO:probinson] synonym: "Abnormal arm span" EXACT layperson [] xref: UMLS:C4022731 is_a: HP:0002817 ! Abnormality of the upper limb created_by: peter creation_date: 2014-04-07T03:09:08Z [Term] id: HP:0012770 name: Reduced arm span def: "Decreased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle)." [HPO:probinson] synonym: "Reduced arm span" EXACT layperson [] xref: UMLS:C4022730 is_a: HP:0012769 ! Abnormal arm span created_by: peter creation_date: 2014-04-07T03:09:58Z [Term] id: HP:0012771 name: Increased arm span def: "Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle)." [HPO:probinson] synonym: "Increased arm span" EXACT layperson [] xref: UMLS:C4022729 is_a: HP:0012769 ! Abnormal arm span created_by: peter creation_date: 2014-04-07T03:10:35Z [Term] id: HP:0012772 name: Abnormal upper to lower segment ratio def: "A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis." [HPO:probinson] xref: UMLS:C4022728 is_a: HP:0000002 ! Abnormality of body height created_by: peter creation_date: 2014-04-07T03:12:56Z [Term] id: HP:0012773 name: Reduced upper to lower segment ratio def: "Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis." [HPO:probinson] comment: A ratio of less than 0.86 (or according to other sources 0.89) is considered abnormally reduced. xref: UMLS:C1836996 is_a: HP:0012772 ! Abnormal upper to lower segment ratio created_by: peter creation_date: 2014-04-07T03:14:28Z [Term] id: HP:0012774 name: Increased upper to lower segment ratio def: "Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis." [HPO:probinson] xref: UMLS:C1844571 is_a: HP:0012772 ! Abnormal upper to lower segment ratio created_by: peter creation_date: 2014-04-07T03:16:21Z [Term] id: HP:0012775 name: Stellate iris def: "A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel." [CINEAS:asollie] xref: UMLS:C4022727 is_a: HP:0008034 ! Abnormal iris pigmentation created_by: peter creation_date: 2014-04-07T03:54:41Z [Term] id: HP:0012776 name: Abnormal ciliary body morphology def: "A structural anomaly of the ciliary body." [CINEAS:asollie] synonym: "Abnormality of the ciliary body" EXACT [] xref: UMLS:C4022726 is_a: HP:0000553 ! Abnormal uvea morphology created_by: peter creation_date: 2014-04-07T04:00:10Z [Term] id: HP:0012777 name: Retinal neoplasm def: "A tumor (abnormal growth of tissue) of the retina." [CINEAS:asollie] xref: MSH:D019572 xref: NCIT:C3262 xref: SNOMEDCT_US:127002001 xref: UMLS:C0524801 is_a: HP:0000479 ! Abnormal retinal morphology is_a: HP:0100012 ! Neoplasm of the eye created_by: peter creation_date: 2014-04-07T05:38:24Z [Term] id: HP:0012778 name: Retinal astrocytic hamartoma def: "A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte." [pmid:20435268, pmid:23436975] comment: Classically retinal astrocytic hamartomas appear as a cream-white, well-circumscribed, elevated lesions that may present as multiple or solitary sites. A lesion is commonly seen with a multilobulated, "mulberry" appearance, but can also appear flat and semitranslucent. It is most frequently associated with tuberous sclerosis but may also be found rarely in patients with neurofibromatosis. Although the finding may point toward a systemic association, it can also be found incidentally on retinal examination as an isolated presentation. xref: UMLS:C4022725 is_a: HP:0009594 ! Retinal hamartoma created_by: peter creation_date: 2014-04-07T05:38:54Z [Term] id: HP:0012779 name: Transient hearing impairment def: "Hearing loss that occurs acutely and resolves completely." [pmid:21776317] comment: Transient hearing loss is particularly common in childhood as a result of inadequate ventilation of the middle ear. xref: UMLS:C4022724 is_a: HP:0000365 ! Hearing impairment created_by: peter creation_date: 2014-04-07T06:09:19Z [Term] id: HP:0012780 name: Neoplasm of the ear def: "A tumor (abnormal growth of tissue) of the ear." [HPO:probinson] synonym: "Ear tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D004428 xref: NCIT:C3262 xref: SNOMEDCT_US:363228008 xref: UMLS:C0013449 is_a: HP:0011793 ! Neoplasm by anatomical site is_a: HP:0031703 ! Abnormal ear morphology created_by: peter creation_date: 2014-04-07T06:11:56Z [Term] id: HP:0012781 name: Mid-frequency hearing loss def: "A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz)." [HPO:probinson] xref: UMLS:C4022723 is_a: HP:0000365 ! Hearing impairment created_by: peter creation_date: 2014-04-08T11:04:07Z [Term] id: HP:0012782 name: Perilobar nephrogenic rest def: "A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe." [HPO:probinson, pmid:20301471] comment: Perilobar nephrogenic rests are associated with Beckwith-Wiedemann syndrome (BWS) and hemi-hyperplasia. xref: SNOMEDCT_US:405935000 xref: UMLS:C1319017 is_a: HP:0100880 ! Nephrogenic rest created_by: peter creation_date: 2014-04-20T03:23:16Z [Term] id: HP:0012783 name: Intralobar nephrogenic rest def: "A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls." [HPO:probinson, pmid:20301471] comment: Intralobar nephrogenic rests are associated WAGR (Wilms tumor-aniridia-genital anomalies-retardation) syndrome and Denys-Drash syndrome (DDS). xref: SNOMEDCT_US:405934001 xref: UMLS:C1319016 is_a: HP:0100880 ! Nephrogenic rest created_by: peter creation_date: 2014-04-20T03:24:35Z [Term] id: HP:0012784 name: Perinephritis def: "Inflammation of the connective and adipose tissues surrounding the kidney." [HPO:probinson] xref: MSH:D010501 xref: SNOMEDCT_US:111404004 xref: UMLS:C0031065 is_a: HP:0000123 ! Nephritis created_by: peter creation_date: 2014-04-20T03:32:07Z [Term] id: HP:0012785 name: Flexion contracture of finger def: "Chronic loss of joint motion in a finger due to structural changes in non-bony tissue." [HPO:probinson] comment: Note that the term camptodactyly refers to a painless flexion contracture of the proximal interphalangeal (PIP) joint and not to a finger joint contracture in general. synonym: "Flexion deformity of finger" EXACT [] xref: UMLS:C1857304 is_a: HP:0009473 ! Joint contracture of the hand is_a: HP:0030044 ! Flexion contracture of digit created_by: peter creation_date: 2014-04-20T04:09:34Z [Term] id: HP:0012786 name: Recurrent cystitis def: "Repeated infections of the urinary bladder." [HPO:probinson, pmid:20639019] comment: One definition of recurrent cystitis involves 3 or more diagnosed cystitis episodes (ICD-9 codes 595.0, 595.9, 597.81, 599.0 with episodes separated by 30 days or more) within a 12-month period or 2 episodes within 6 months. synonym: "Recurrent bladder infections" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:197853008 xref: UMLS:C0581366 is_a: HP:0000010 ! Recurrent urinary tract infections created_by: peter creation_date: 2014-04-22T09:18:06Z [Term] id: HP:0012787 name: Recurrent pyelonephritis def: "Repeated episodes of pyelonephritis." [HPO:probinson] xref: UMLS:C0748199 is_a: HP:0000010 ! Recurrent urinary tract infections is_a: HP:0012330 ! Pyelonephritis created_by: peter creation_date: 2014-04-22T09:24:10Z [Term] id: HP:0012788 name: Reticulate pigmentation of oral mucosa def: "A net-like pattern of increased pigmentation of the oral cavity." [HPO:probinson] synonym: "Mottled pigmentation of oral mucosa" EXACT [ORCID:0000-0001-5889-4463] synonym: "Reticulate pigmentation of oral mucous membrane" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1852148 is_a: HP:0100669 ! Abnormal pigmentation of the oral mucosa created_by: peter creation_date: 2014-04-22T09:31:07Z [Term] id: HP:0012789 name: Hypoplasia of the calcaneus def: "Underdevelopment of the heel bone." [HPO:probinson] synonym: "Hypoplastic calcaneus" EXACT [] synonym: "Small heel bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Underdeveloped heel bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3550873 is_a: HP:0008363 ! Aplasia/Hypoplasia of the tarsal bones is_a: HP:0008364 ! Abnormality of the calcaneus created_by: peter creation_date: 2014-04-22T09:58:48Z [Term] id: HP:0012790 name: Abnormal intramembranous ossification def: "An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, parietal, occipital, and temporal bones, and the clavicles) are formed." [HPO:probinson] synonym: "Abnormal intramembranous bone ossification" EXACT [] xref: UMLS:C4021069 is_a: HP:0011849 ! Abnormal bone ossification created_by: peter creation_date: 2014-04-24T10:18:31Z [Term] id: HP:0012791 name: Abnormal humeral ossification def: "An anomaly of the process of formation of bone in the humerus." [HPO:probinson] synonym: "Abnormal maturation of long bone in upper arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022722 is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0003336 ! Abnormal enchondral ossification created_by: peter creation_date: 2014-04-24T10:23:43Z [Term] id: HP:0012792 name: Absent ossification of thoracic vertebral bodies def: "A lack of bone mineralization of one or more body of thoracic vertebra." [HPO:probinson] xref: UMLS:C4022721 is_a: HP:0004599 ! Absent or minimally ossified vertebral bodies created_by: peter creation_date: 2014-04-24T11:05:14Z [Term] id: HP:0012793 name: Kinked brainstem def: "A kinked appearance of the brainstem, i.e., an exaggerated flexure." [HPO:probinson, pmid:16301726] comment: Kinked brainstem is an indicator of severe neurodysgenesis arising early in gestation. This sign can be appreciated in prenatal magnetic resonance imaging. synonym: "Kinked brain stem" EXACT [] xref: UMLS:C4021068 is_a: HP:0002363 ! Abnormality of brainstem morphology created_by: peter creation_date: 2014-04-25T02:51:49Z [Term] id: HP:0012794 name: Periventricular white matter hypodensities def: "Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles." [HPO:probinson, pmid:16239634] comment: See also defintion for "Deep white matter hypodensities". These two entities are in contra-distinction to each other. synonym: "Periventricular cerebral white matter hypodensities" EXACT [] xref: UMLS:C4022720 is_a: HP:0007103 ! Hypointensity of cerebral white matter on MRI created_by: peter creation_date: 2014-04-25T03:00:01Z [Term] id: HP:0012795 name: Abnormality of the optic disc def: "A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination." [HPO:probinson] comment: The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination. xref: UMLS:C3808249 is_a: HP:0000587 ! Abnormality of the optic nerve created_by: peter creation_date: 2014-05-24T04:37:10Z [Term] id: HP:0012796 name: Increased cup-to-disc ratio def: "An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefoy may indicate a decrease in the quantity of healthy neuroretinal cells." [HPO:probinson, pmid:23557744] comment: A cup to disc ratio of 0.3 is generally considered normal. Note that the ratio is measured in the vertical orientation unless otherwise specified. synonym: "Elevated cup to disc ratio" EXACT [] synonym: "Increased cup disc ratio" EXACT [] xref: UMLS:C3805911 is_a: HP:0012795 ! Abnormality of the optic disc created_by: peter creation_date: 2014-05-24T04:43:52Z [Term] id: HP:0012797 name: Lymphatic vessel neoplasm def: "A benign or malignant neoplasm arising from the lymphatic vessels." [NCIT:C3723] synonym: "Lymphatic vessel tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D018190 xref: NCIT:C3262 xref: SNOMEDCT_US:115236002 xref: UMLS:C0206619 is_a: HP:0100742 ! Vascular neoplasm is_a: HP:0100766 ! Abnormal lymphatic vessel morphology created_by: peter creation_date: 2014-05-24T05:00:34Z [Term] id: HP:0012798 name: Pulmonary lymphangiomyomatosis def: "Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls." [HPO:probinson] comment: Pulmonary lymphangiomyomatosis is a manifestation of lymphangioleiomyomatosis, which may also affect extrapulmonary locations. It can be seen in tuberous sclerosis. synonym: "Lymphangioleiomyomatosis" RELATED [] synonym: "Pulmonary myomatosis" EXACT [] xref: MSH:D018192 xref: SNOMEDCT_US:73017001 xref: UMLS:C0238399 xref: UMLS:C0751674 is_a: HP:0012797 ! Lymphatic vessel neoplasm is_a: HP:0100526 ! Neoplasm of the lung created_by: peter creation_date: 2014-05-24T05:00:46Z [Term] id: HP:0012799 name: Unilateral facial palsy def: "One-sided weakness of the muscles of facial expression and eye closure." [HPO:probinson] synonym: "Paralysis of one side of the face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Unilateral facial muscle paralysis" EXACT [ORCID:0000-0001-5889-4463] synonym: "Unilateral facial muscle weakness" EXACT [ORCID:0000-0001-5889-4463] synonym: "Unilateral facial paralysis" EXACT [ORCID:0000-0001-5889-4463] synonym: "Unilateral facial weakness" EXACT [ORCID:0000-0001-5889-4463] synonym: "Weakness of one side of the face" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C0239516 xref: UMLS:C4022719 is_a: HP:0010628 ! Facial palsy created_by: hecht creation_date: 2014-05-25T10:35:53Z [Term] id: HP:0012800 name: Accessory cranial suture def: "A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant." [HPO:probinson, pmid:20496093] comment: The parietal and occipital bones in particular are common regions for accessory sutures because of their multiple ossification centers. Accessory sutures can be explained on the basis of incomplete union of the two separate ossification centers. Accessory sutures usually will show a zigzag pattern with interdigitations and sclerotic borders similar to major calvarial sutures. synonym: "Accessory fontanelle" NARROW [ORCID:0000-0001-5889-4463] synonym: "Extra cranial suture" EXACT [ORCID:0000-0001-5889-4463] synonym: "Extra fontanelle" NARROW [ORCID:0000-0001-5889-4463] synonym: "Supernumary cranial suture" EXACT [ORCID:0000-0001-5889-4463] synonym: "Supernumary fontanelle" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4021067 xref: UMLS:C4022927 is_a: HP:0011329 ! Abnormality of cranial sutures created_by: hecht creation_date: 2014-05-25T10:54:52Z [Term] id: HP:0012801 name: Narrow jaw def: "Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective)." [HPO:probinson, pmid:19125436] comment: The width of the jaw is measured from the right gonion to the left gonion using spreading calipers. The gonion is the point at the angle of the bony mandible where the ramus changes direction to become the body of the mandible. It faces inferiorly and medially and is best found by placing a finger over the outward facing angle and rolling the finger downwards and inwards. synonym: "Narrow jaw" EXACT layperson [] synonym: "Narrow lower face" EXACT layperson [] synonym: "Narrow lower jaw" EXACT layperson [] synonym: "Narrow mandible" EXACT [] synonym: "Thin lower face" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Thin lower jaw" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021066 xref: UMLS:C4280310 is_a: HP:0000277 ! Abnormality of the mandible created_by: hecht creation_date: 2014-05-25T02:37:13Z [Term] id: HP:0012802 name: Broad jaw def: "Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective)." [HPO:probinson, pmid:19125436] comment: The lower jaw is measured from the right gonion to the left gonion using spreading calipers. The gonion is the point at the angle of the bony mandible where the ramus changes direction to become the body of the mandible. It faces inferiorly and medially and is best found by placing a finger over the outward facing angle and rolling the finger downwards and inwards. When a broad jaw is accompanied by a broad upper face the term Square face is used. synonym: "Broad jaw" EXACT layperson [] synonym: "Broad lower face" EXACT layperson [] synonym: "Broad mandible" EXACT [] synonym: "Wide jaw" EXACT layperson [] synonym: "Wide mandible" EXACT [] xref: UMLS:C3281059 is_a: HP:0000277 ! Abnormality of the mandible created_by: hecht creation_date: 2014-05-25T02:41:43Z [Term] id: HP:0012803 name: Anisometropia def: "Inequality of refractive power of the two eyes." [HPO:probinson] xref: MSH:D015858 xref: SNOMEDCT_US:3289004 xref: UMLS:C0003081 is_a: HP:0000539 ! Abnormality of refraction created_by: hecht creation_date: 2014-05-25T03:05:21Z [Term] id: HP:0012804 name: Corneal ulceration def: "Disruption of the epithelial layer of the cornea with involvement of the underlying stroma." [HPO:probinson] synonym: "Corneal ulcer" EXACT [] xref: MSH:D003320 xref: SNOMEDCT_US:91514001 xref: UMLS:C0010043 is_a: HP:0011495 ! Abnormal corneal epithelium morphology created_by: hecht creation_date: 2014-05-25T03:25:51Z [Term] id: HP:0012805 name: Iris transillumination defect def: "Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris." [HPO:probinson, pmid:19920562] comment: Initially, transillumination defects are usually slit-like, but if pigment loss increases, the defects may be become larger and irregularly shaped. xref: UMLS:C1096099 is_a: HP:0008034 ! Abnormal iris pigmentation created_by: hecht creation_date: 2014-05-25T03:43:06Z [Term] id: HP:0012806 name: Proboscis def: "A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline." [HPO:probinson, pmid:19152422] comment: A proboscis has a single cavity. It may be found in association with a malformed nose and absence of one or both nares. xref: UMLS:C0687082 is_a: HP:0005105 ! Abnormal nasal morphology created_by: hecht creation_date: 2014-05-25T05:46:42Z [Term] id: HP:0012807 name: High insertion of columella def: "Insertion of the posterior columella superior to the nasal base." [pmid:19152422] comment: This feature is different from a convex Low hanging columella that has a normal insertion. It may be associated with a Short philtrum, but this should be assessed and coded separately. A low insertion is best appreciated when viewed from the side. subset: hposlim_core synonym: "Ala lower than columella" BROAD [ORCID:0000-0001-5889-4463] synonym: "Columella, high insertion" EXACT [] xref: UMLS:C4020909 is_a: HP:0009929 ! Abnormality of the columella created_by: hecht creation_date: 2014-05-25T05:51:17Z [Term] id: HP:0012808 name: Abnormal nasal base def: "An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face." [HPO:probinson, pmid:19152422] synonym: "Abnormal nasal base" EXACT layperson [] synonym: "Abnormality of base of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Anomaly of base of nose" EXACT [ORCID:0000-0001-5889-4463] synonym: "Anomaly of nasal base" EXACT [ORCID:0000-0001-5889-4463] synonym: "Deformity of base of nose" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Deformity of nasal base" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of base of nose" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of nasal base" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4022718 is_a: HP:0000366 ! Abnormality of the nose created_by: hecht creation_date: 2014-05-25T05:56:47Z [Term] id: HP:0012809 name: Narrow nasal base def: "Decreased distance between the attachments of the alae nasi to the face." [HPO:probinson, pmid:19152422] comment: There is a marked difference in width of the nasal base depending on ethnic background. synonym: "Decreased width of base of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased width of nasal base" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Narrow base of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Narrow nasal base" EXACT layperson [] synonym: "Thin base of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Thin nasal base" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4022717 is_a: HP:0012808 ! Abnormal nasal base created_by: hecht creation_date: 2014-05-25T05:58:16Z [Term] id: HP:0012810 name: Wide nasal base def: "Increased distance between the attachments of the alae nasi to the face." [HPO:probinson, pmid:19152422] comment: There is a marked difference in width of the nasal base depending on ethnic background. synonym: "Broad base of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Broad nasal base" EXACT layperson [] synonym: "Increased width of base of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased width of nasal base" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Wide base of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Wide nasal base" EXACT layperson [] xref: UMLS:C1849667 is_a: HP:0012808 ! Abnormal nasal base created_by: hecht creation_date: 2014-05-25T05:59:12Z [Term] id: HP:0012811 name: Wide nasal ridge def: "Increased width of the nasal ridge." [HPO:probinson, pmid:19152422] comment: This feature should be assessed in a frontal view. There is no objective measure of width. This may give the impression of a Depressed nasal ridge, but this should be assessed in profile and separately coded. Marked widening of the nasal ridge may be difficult to distinguish from a Bifid nose. synonym: "Broad dorsum of nose" EXACT [ORCID:0000-0001-5889-4463] synonym: "Broad nasal dorsum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Broad nasal ridge" RELATED layperson [] synonym: "Increased width of dorsum of nose" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased width of nasal dorsum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased width of nasal ridge" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Nasal ridge, wide" EXACT [] synonym: "Wide dorsum of nose" EXACT [ORCID:0000-0001-5889-4463] synonym: "Wide nasal dorsum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Wide nasal ridge" EXACT layperson [] xref: UMLS:C4020718 is_a: HP:0011119 ! Abnormality of the nasal dorsum created_by: hecht creation_date: 2014-05-25T10:38:03Z [Term] id: HP:0012812 name: Fullness of paranasal tissue def: "Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues." [HPO:probinson, pmid:19152422] comment: This feature is distinct from Wide nasal ridge and Wide nasal bridge. synonym: "Fullness of tissue around the nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Hyperplasia of paranasal tissue" NARROW [ORCID:0000-0001-5889-4463] synonym: "Hypertrophy of paranasal tissue" NARROW [ORCID:0000-0001-5889-4463] synonym: "Laterally built up nose" EXACT [] synonym: "Paranasal fullness" EXACT [] synonym: "Thick paranasal tissue" EXACT [ORCID:0000-0001-5889-4463] synonym: "Thick tissue around the nose" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021065 xref: UMLS:C4280308 xref: UMLS:C4280309 is_a: HP:0005105 ! Abnormal nasal morphology created_by: hecht creation_date: 2014-05-25T10:40:06Z [Term] id: HP:0012813 name: Unilateral breast hypoplasia def: "Underdevelopment of the breast on one side only." [HPO:probinson] synonym: "One underdeveloped breast" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1844722 is_a: HP:0003187 ! Breast hypoplasia created_by: hecht creation_date: 2014-05-26T08:11:58Z [Term] id: HP:0012814 name: Bilateral breast hypoplasia def: "Underdevelopment of the breast on both sides." [HPO:probinson] synonym: "Two underdeveloped breasts" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4022716 is_a: HP:0003187 ! Breast hypoplasia created_by: hecht creation_date: 2014-05-26T08:12:34Z [Term] id: HP:0012815 name: Hypoplastic female external genitalia def: "Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris)." [HPO:probinson] synonym: "Underdeveloped female external genitalia" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4022715 is_a: HP:0000055 ! Abnormality of female external genitalia is_a: HP:0003241 ! External genital hypoplasia created_by: peter creation_date: 2014-05-27T08:14:55Z [Term] id: HP:0012816 name: Right ventricular noncompaction cardiomyopathy def: "A predominantly right ventricular variant of isolated noncompaction cardiomyopathy." [HPO:probinson, pmid:23921774] xref: UMLS:C4022714 is_a: HP:0012817 ! Noncompaction cardiomyopathy created_by: hecht creation_date: 2014-05-28T08:35:01Z [Term] id: HP:0012817 name: Noncompaction cardiomyopathy def: "A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber." [HPO:probinson, pmid:15210614, pmid:24282766] comment: Noncompaction of the ventricular myocardium is a cardiomyopathy thought to be caused by arrest of normal embryogenesis of the endocardium and myocardium. This abnormality is often associated with other congenital cardiac defects, but it is also seen in the absence of other cardiac anomalies. During early embryonic development, the myocardium is a loose network of interwoven fibers separated by deep recesses that link the myocardium with the left ventricular cavity. Gradual compaction of this spongy meshwork of fibers and intertrabecular recesses, or sinusoids, occurs between weeks 5 and 8 of embryonic life, proceeding from the epicardium to endocardium and from the base of the heart to the apex. Noncompaction of the ventricular myocardium (NVM) is an uncommon finding. It is thought to be caused by arrest of the normal process of endomyocardial morphogenesis. The left ventricle is uniformly affected, but biventricular noncompaction has been reported, with right ventricular noncompaction described in less than one-half of patients. Because of difficulty in distinguishing normal variants in the highly trabeculated right ventricle from the pathological noncompacted ventricle, several authors dispute the existence of right ventricular noncompaction [pmid:15210614]. synonym: "Noncompaction of the ventricular myocardium" EXACT [] synonym: "Spongiform cardiomyopathy" EXACT [] xref: UMLS:C1839832 is_a: HP:0001638 ! Cardiomyopathy created_by: hecht creation_date: 2014-05-28T08:37:34Z [Term] id: HP:0012818 name: Biventricular noncompaction cardiomyopathy def: "Noncompaction cardiomyopathy that affects both ventricles." [HPO:probinson] xref: UMLS:C4022713 is_a: HP:0012817 ! Noncompaction cardiomyopathy created_by: hecht creation_date: 2014-05-28T08:49:23Z [Term] id: HP:0012819 name: Myocarditis def: "Inflammation of the myocardium." [HPO:probinson, pmid:21304213, pmid:22185868, pmid:22361396] comment: Myocarditis can be caused by a variety of bacterial and viral infections. Enteroviruses, especially coxsackievirus B, are often associated with acute myocarditis. \nHowever, with the advent of genetic analysis, adenovirus and parvovirus B19 have also been found to be frequent causes of myocarditis. Exposure to drug treatment, physical stimuli such as radiation and heat, metabolic disorders, immune disorders, and pregnancy are also causes of myocarditis. Many cases of myocarditis are idiopathic. Myocarditis presents with non-specific symptoms including chest pain, dyspnoea, and palpitations, and thus often mimics more common disorders such as coronary artery disease. In some patients, cardiac MRI and endomyocardial biopsy can help identify myocarditis, predict risk of cardiovascular events, and guide treatment. synonym: "Inflammation of heart muscle" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D009205 xref: SNOMEDCT_US:50920009 xref: UMLS:C0027059 is_a: HP:0001637 ! Abnormal myocardium morphology created_by: hecht creation_date: 2014-05-28T09:01:32Z [Term] id: HP:0012820 name: Bilateral vocal cord paralysis def: "A loss of the ability to move the vocal fold on both sides." [HPO:probinson] xref: UMLS:C2146481 is_a: HP:0001605 ! Vocal cord paralysis created_by: hecht creation_date: 2014-05-28T09:22:32Z [Term] id: HP:0012821 name: Unilateral vocal cord paresis def: "Decreased strength of the vocal fold on one side." [HPO:probinson] xref: MSH:D014826 xref: UMLS:C0751577 is_a: HP:0001604 ! Vocal cord paresis created_by: hecht creation_date: 2014-05-28T09:25:11Z [Term] id: HP:0012822 name: Bilateral vocal cord paresis def: "Decreased strength of the vocal fold on both sides." [HPO:probinson] xref: MSH:D014826 xref: UMLS:C0751574 is_a: HP:0001604 ! Vocal cord paresis created_by: hecht creation_date: 2014-05-28T09:25:43Z [Term] id: HP:0012823 name: Clinical modifier alt_id: HP:0000004 def: "This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects." [HPO:probinson] comment: Note that some of the terms, such as Intellectual disability, have children terms such as Severe intellectual disability that represent precomposed combinations of modifiers and phenotypic abnormality terms. This done where the medical community commonly uses these terms with a fixed meaning (for instance, the Intellectual disability terms are used with specific IQ ranges). For computational reasoning, the semantics are intended to be the same as if there was a combination of the phenotype term and the clinical modifier term. synonym: "Phenotypic modifier" EXACT [] xref: UMLS:C4021064 is_a: HP:0000001 ! All created_by: peter creation_date: 2014-06-06T06:34:24Z [Term] id: HP:0012824 name: Severity def: "The intensity or degree of a manifestation." [HPO:probinson] comment: Synonymous with PATO:0000049, intensity. synonym: "Intensity" EXACT [] xref: SNOMEDCT_US:103370009 xref: UMLS:C0522510 is_a: HP:0012823 ! Clinical modifier created_by: peter creation_date: 2014-06-06T06:39:22Z [Term] id: HP:0012825 name: Mild def: "Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean." [HPO:probinson] comment: PATO:0000394, mild. synonym: "Mild" EXACT layperson [] xref: SNOMEDCT_US:446411000124101 xref: UMLS:C1513302 is_a: HP:0012824 ! Severity created_by: peter creation_date: 2014-06-06T06:41:33Z [Term] id: HP:0012826 name: Moderate def: "Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean." [HPO:probinson] comment: PATO:0000395, moderate. xref: SNOMEDCT_US:446421000124109 xref: SNOMEDCT_US:6736007 xref: UMLS:C0205081 is_a: HP:0012824 ! Severity created_by: peter creation_date: 2014-06-06T06:48:12Z [Term] id: HP:0012827 name: Borderline def: "Having a minor degree of severity that is considered to be on the boundary between the normal and the abnormal ranges. For quantitative traits, a deviation of that is less than two standard deviations from the appropriate population mean." [HPO:probinson] comment: PATO:0000394, mild. synonym: "Borderline" EXACT layperson [] xref: UMLS:C0205189 is_a: HP:0012824 ! Severity created_by: peter creation_date: 2014-06-06T06:52:16Z [Term] id: HP:0012828 name: Severe def: "Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean." [HPO:probinson] comment: PATO:0000396, severe. synonym: "Severe" EXACT layperson [] xref: SNOMEDCT_US:24484000 xref: UMLS:C0205082 is_a: HP:0012824 ! Severity created_by: peter creation_date: 2014-06-06T07:03:17Z [Term] id: HP:0012829 name: Profound def: "Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean." [HPO:probinson] synonym: "Profound" EXACT layperson [] xref: SNOMEDCT_US:795002 xref: UMLS:C0439808 is_a: HP:0012824 ! Severity created_by: peter creation_date: 2014-06-06T07:05:46Z [Term] id: HP:0012830 name: Position def: "The anatomical localization of the specified phenotypic abnormality." [HPO:probinson] xref: UMLS:C4019252 is_a: HP:0012823 ! Clinical modifier created_by: peter creation_date: 2014-06-06T07:18:35Z [Term] id: HP:0012831 name: Laterality def: "The localization with respect to the side of the body of the specified phenotypic abnormality." [HPO:probinson] xref: SNOMEDCT_US:272741003 xref: UMLS:C0332304 is_a: HP:0012830 ! Position created_by: peter creation_date: 2014-06-06T07:19:19Z [Term] id: HP:0012832 name: Bilateral def: "Being present on both sides of the body." [HPO:probinson] xref: SNOMEDCT_US:51440002 xref: UMLS:C0238767 is_a: HP:0012831 ! Laterality created_by: peter creation_date: 2014-06-06T07:20:42Z [Term] id: HP:0012833 name: Unilateral def: "Being present on only the left or only the right side of the body." [HPO:probinson] xref: SNOMEDCT_US:66459002 xref: UMLS:C0205092 is_a: HP:0012831 ! Laterality created_by: peter creation_date: 2014-06-06T07:21:12Z [Term] id: HP:0012834 name: Right def: "Being located on the right side of the body." [HPO:probinson] synonym: "Right-sided" EXACT [] xref: SNOMEDCT_US:264180000 xref: UMLS:C0444532 is_a: HP:0012831 ! Laterality created_by: peter creation_date: 2014-06-06T07:21:46Z [Term] id: HP:0012835 name: Left def: "Being located on the left side of the body." [HPO:probinson] synonym: "Left-sided" EXACT [] xref: SNOMEDCT_US:263795004 xref: UMLS:C0443246 is_a: HP:0012831 ! Laterality created_by: peter creation_date: 2014-06-06T07:23:17Z [Term] id: HP:0012836 name: Spatial pattern def: "The pattern by which a phenotype affects one or more regions of the body." [HPO:probinson] xref: UMLS:C4022711 is_a: HP:0012830 ! Position created_by: peter creation_date: 2014-06-06T07:25:02Z [Term] id: HP:0012837 name: Generalized def: "Affecting all regions without specificity of distribution." [HPO:probinson] comment: PATO:0002403. synonym: "Generalised" EXACT HP:0045076 [] xref: SNOMEDCT_US:60132005 xref: UMLS:C0205246 is_a: HP:0012836 ! Spatial pattern created_by: peter creation_date: 2014-06-06T07:25:58Z [Term] id: HP:0012838 name: Localized def: "Being confined or restricted to a particular location." [HPO:probinson] comment: PATO:0000627. synonym: "Localised" EXACT HP:0045076 [] synonym: "Localized" EXACT layperson [] xref: SNOMEDCT_US:255471002 xref: UMLS:C0392752 is_a: HP:0012836 ! Spatial pattern created_by: peter creation_date: 2014-06-06T07:27:48Z [Term] id: HP:0012839 name: Distal def: "Localized away from the central point of the body." [HPO:probinson] synonym: "Outermost" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:46053002 xref: UMLS:C0205108 is_a: HP:0012836 ! Spatial pattern created_by: peter creation_date: 2014-06-06T07:29:38Z [Term] id: HP:0012840 name: Proximal def: "Localized close to the central point of the body." [HPO:probinson] xref: SNOMEDCT_US:40415009 xref: UMLS:C0205107 is_a: HP:0012836 ! Spatial pattern created_by: peter creation_date: 2014-06-06T07:30:42Z [Term] id: HP:0012841 name: Retinal vascular tortuosity def: "The presence of an increased number of twists and turns of the retinal blood vessels." [HPO:probinson] synonym: "Tortuous retinal vessels" EXACT [] xref: UMLS:C1860475 is_a: HP:0008046 ! Abnormal retinal vascular morphology created_by: peter creation_date: 2014-06-06T07:53:56Z [Term] id: HP:0012842 name: Skin appendage neoplasm def: "A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands." [NCIT:C4463] synonym: "Skin adnexal neoplasm" EXACT [] synonym: "Skin adnexal tumor" EXACT [] xref: NCIT:C3262 xref: SNOMEDCT_US:126489007 xref: SNOMEDCT_US:55681005 xref: UMLS:C0345988 is_a: HP:0008069 ! Neoplasm of the skin is_a: HP:0011138 ! Abnormality of skin adnexa morphology created_by: peter creation_date: 2014-06-06T08:02:51Z [Term] id: HP:0012843 name: Hair follicle neoplasm def: "An uncontrolled autonomous cell-proliferation originating in a hair follicle, which is an epidermal adnexal structures responsible for hair growth." [HPO:probinson, NCIT:C7367] xref: NCIT:C3262 xref: SNOMEDCT_US:44155009 xref: UMLS:C0859920 is_a: HP:0012842 ! Skin appendage neoplasm created_by: peter creation_date: 2014-06-06T08:03:49Z [Term] id: HP:0012844 name: Trichilemmoma def: "A benign tumour originating from the outer root sheath of the hair follicle." [UToronto:htrang] synonym: "Tricholemmoma" EXACT [] xref: SNOMEDCT_US:274900003 xref: SNOMEDCT_US:46199002 xref: UMLS:C0334263 is_a: HP:0012843 ! Hair follicle neoplasm created_by: peter creation_date: 2014-06-06T08:05:05Z [Term] id: HP:0012845 name: Single trichilemmoma def: "Presence of a unitary trichilemmoma, a benign tumour originating from the outer root sheath of the hair follicle." [HPO:probinson] xref: UMLS:C4022710 is_a: HP:0012844 ! Trichilemmoma created_by: peter creation_date: 2014-06-06T08:06:37Z [Term] id: HP:0012846 name: Multiple trichilemmomata def: "Presence of multiple trichilemmomata, a benign tumour originating from the outer root sheath of the hair follicle." [HPO:probinson] synonym: "Multiple trichilemmomas" EXACT [] xref: UMLS:C4021063 is_a: HP:0012844 ! Trichilemmoma created_by: peter creation_date: 2014-06-06T08:07:30Z [Term] id: HP:0012847 name: Epilepsia partialis continua def: "A form of partial status epilepticus with simple motor manifestations that are maintained for over one hour, with clonic activity restricted to one body part and recurring at fairly regular intervals." [UToronto:htrang] xref: MSH:D017036 xref: SNOMEDCT_US:241006 xref: UMLS:C0085543 is_a: HP:0002133 ! Status epilepticus created_by: peter creation_date: 2014-06-06T08:09:22Z [Term] id: HP:0012848 name: Small intestinal stenosis def: "The narrowing or partial blockage of a portion of the small intestine." [HPO:probinson] synonym: "Narrowing of small intestine" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C0151924 is_a: HP:0002244 ! Abnormality of the small intestine created_by: hecht creation_date: 2014-06-07T09:00:19Z [Term] id: HP:0012849 name: Small intestinal bleeding def: "Bleeding from the small intestine." [HPO:probinson] synonym: "Small intestinal bleeding" EXACT layperson [] synonym: "Small intestinal hemorrhage" EXACT [] xref: SNOMEDCT_US:70375006 xref: UMLS:C0520561 is_a: HP:0002244 ! Abnormality of the small intestine is_a: HP:0002584 ! Intestinal bleeding created_by: hecht creation_date: 2014-06-07T09:12:22Z [Term] id: HP:0012850 name: Small intestinal dysmotility def: "Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes." [HPO:probinson] xref: SNOMEDCT_US:253768006 xref: UMLS:C0345200 is_a: HP:0002244 ! Abnormality of the small intestine is_a: HP:0002579 ! Gastrointestinal dysmotility created_by: robinson creation_date: 2014-06-07T09:15:02Z [Term] id: HP:0012851 name: Colonic stenosis def: "A narrowing of a segment of colon whereby bowel continuity is maintained." [HPO:probinson] synonym: "Narrowing of the colon" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Stenosis of the colon" EXACT [] xref: SNOMEDCT_US:19132000 xref: SNOMEDCT_US:8543007 xref: UMLS:C0267466 is_a: HP:0002250 ! Abnormal large intestine morphology created_by: hecht creation_date: 2014-06-07T09:22:41Z [Term] id: HP:0012852 name: Hepatic bridging fibrosis def: "Hepatic fibrosis that reaches from a portal area to another portal area." [HPO:probinson, pmid:14568255] xref: UMLS:C4022709 is_a: HP:0001395 ! Hepatic fibrosis created_by: hecht creation_date: 2014-06-07T09:27:43Z [Term] id: HP:0012853 name: Scrotal hypospadias def: "Hypospadias with location of the urethral meatus in the scrotum." [HPO:probinson] xref: SNOMEDCT_US:702462000 xref: UMLS:C2197691 is_a: HP:0000047 ! Hypospadias created_by: hecht creation_date: 2014-06-08T10:56:11Z [Term] id: HP:0012854 name: Midshaft hypospadias def: "Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis." [HPO:probinson, PMID:12371222] xref: UMLS:C4022708 is_a: HP:0000047 ! Hypospadias created_by: hecht creation_date: 2014-06-08T10:57:24Z [Term] id: HP:0012855 name: Scrotal hyperpigmentation def: "Increased pigmentation (skin color) of the scrotum." [HPO:probinson] comment: This finding may be normal variation but can also be seen with congenital adrenal hyperplasia and other causes of excessive adrenocorticotrophic hormone (ACTH) stimulation. synonym: "Hyperpigmentation of the scrotum" EXACT [] synonym: "Hyperpigmented scrotum" EXACT [] synonym: "Increased pigmentation in scrotum" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4021062 is_a: HP:0000045 ! Abnormality of the scrotum created_by: hecht creation_date: 2014-06-08T11:03:38Z [Term] id: HP:0012856 name: Abnormal scrotal rugation def: "Anomaly of the folded ridges (wrinkles) of skin of the scrotum." [HPO:probinson] xref: UMLS:C4022707 is_a: HP:0000045 ! Abnormality of the scrotum created_by: hecht creation_date: 2014-06-08T11:10:00Z [Term] id: HP:0012857 name: Increased scrotal rugation def: "Increased number or density of the folded ridges (wrinkles) of skin of the scrotum." [HPO:probinson] xref: UMLS:C4022706 is_a: HP:0012856 ! Abnormal scrotal rugation created_by: hecht creation_date: 2014-06-08T11:12:46Z [Term] id: HP:0012858 name: Decreased scrotal rugation def: "Decreased number or density of the folded ridges (wrinkles) of skin of the scrotum." [HPO:probinson] xref: UMLS:C4022705 is_a: HP:0012856 ! Abnormal scrotal rugation created_by: hecht creation_date: 2014-06-08T11:14:00Z [Term] id: HP:0012859 name: Esophageal leukoplakia def: "A white patch or plaque occurring on the surface of the esophageal mucous membranes that cannot be rubbed off and cannot be characterized clinically as any other disease." [pmid:23765246, UToronto:htrang] synonym: "Esophageal epidermoid metaplasia" RELATED [] xref: SNOMEDCT_US:89057003 xref: UMLS:C0267095 is_a: HP:0002031 ! Abnormal esophagus morphology created_by: hecht creation_date: 2014-06-08T11:16:53Z [Term] id: HP:0012860 name: Testicular fibrosis def: "Formation of excess connective tissue in the testicle." [HPO:probinson] synonym: "Fibrotic testes" EXACT [] synonym: "Fibrotic testicle" EXACT [] xref: UMLS:C4021061 is_a: HP:0000035 ! Abnormal testis morphology created_by: hecht creation_date: 2014-06-09T09:29:22Z [Term] id: HP:0012861 name: Ovotestis def: "A gonad that contains both ovarian follicles and testicular tubular elements." [HPO:probinson] comment: An ovotestis is usually observed to have connective tissue separating the ovarian components from the testicular components, but ovarian and testicular elements may be intermixed. xref: MSH:D050090 xref: SNOMEDCT_US:18978002 xref: UMLS:C0266361 is_a: HP:0000062 ! Ambiguous genitalia created_by: hecht creation_date: 2014-06-09T09:48:37Z [Term] id: HP:0012862 name: Abnormal germ cell morphology def: "Any structural anomaly of a reproductive cell." [HPO:probinson] synonym: "Abnormally shaped of reproductive cell" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022704 is_a: HP:0012243 ! Abnormal reproductive system morphology created_by: hecht creation_date: 2014-06-09T10:01:49Z [Term] id: HP:0012863 name: Abnormal male germ cell morphology def: "A structural anomaly of a male reproductive cell." [HPO:probinson] xref: UMLS:C4022703 is_a: HP:0012862 ! Abnormal germ cell morphology created_by: hecht creation_date: 2014-06-09T10:05:33Z [Term] id: HP:0012864 name: Abnormal sperm morphology def: "A structural anomaly of sperm." [HPO:probinson] synonym: "Abnormal shape of sperm" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Teratospermia" EXACT [] synonym: "Teratozoospermia" EXACT [] xref: MSH:D000072660 xref: SNOMEDCT_US:236817003 xref: UMLS:C0403824 is_a: HP:0012863 ! Abnormal male germ cell morphology created_by: hecht creation_date: 2014-06-09T10:07:03Z [Term] id: HP:0012865 name: Sperm head anomaly def: "A structural abnormality of the sperm head." [HPO:probinson, pmid:22198630] xref: UMLS:C4022702 is_a: HP:0012864 ! Abnormal sperm morphology created_by: hecht creation_date: 2014-06-09T10:48:21Z [Term] id: HP:0012866 name: Sperm neck anomaly def: "A structural abnormality of the sperm neck." [HPO:probinson, pmid:22198630] comment: The neck of spermatozoa is the site of articulation between the head and tail, and comprises the sperm centriole and connecting piece. xref: UMLS:C4022701 is_a: HP:0012864 ! Abnormal sperm morphology created_by: hecht creation_date: 2014-06-09T10:50:20Z [Term] id: HP:0012867 name: Sperm mid-piece anomaly def: "A structural abnormality of the sperm mid-piece." [HPO:22198630, HPO:probinson] xref: UMLS:C4022700 is_a: HP:0012864 ! Abnormal sperm morphology created_by: hecht creation_date: 2014-06-09T10:50:37Z [Term] id: HP:0012868 name: Sperm tail anomaly def: "A structural abnormality of the sperm tail." [HPO:probinson, pmid:22198630] comment: Defective sperm flagella are the principal cause of sperm motility disorders. xref: UMLS:C4022699 is_a: HP:0012864 ! Abnormal sperm morphology created_by: hecht creation_date: 2014-06-09T10:50:50Z [Term] id: HP:0012869 name: Acephalic spermatozoa def: "Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head." [HPO:probinson, pmid:10402395] xref: UMLS:C4022698 is_a: HP:0012865 ! Sperm head anomaly created_by: hecht creation_date: 2014-06-09T10:57:11Z [Term] id: HP:0012870 name: Vanishing testis def: "A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction." [HPO:probinson, pmid:22985611] synonym: "Testicular regression syndrome" RELATED [] synonym: "Vanishing testis" EXACT layperson [] xref: MSH:C537770 xref: SNOMEDCT_US:53599007 xref: UMLS:C0266427 is_a: HP:0000035 ! Abnormal testis morphology created_by: hecht creation_date: 2014-06-09T11:00:13Z [Term] id: HP:0012871 name: Varicocele def: "A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum." [HPO:probinson] comment: "vaginal" refers to the tunica vaginalis of the testis, not to the vagina. synonym: "Vaginal varicocele" EXACT [] xref: MSH:D014646 xref: SNOMEDCT_US:46871008 xref: SNOMEDCT_US:51070004 xref: UMLS:C0042341 is_a: HP:0000045 ! Abnormality of the scrotum created_by: hecht creation_date: 2014-06-09T11:07:41Z [Term] id: HP:0012872 name: Abnormal vas deferens morphology def: "A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct." [HPO:probinson, MP:0002769] xref: UMLS:C4022697 is_a: HP:0000022 ! Abnormality of male internal genitalia created_by: hecht creation_date: 2014-06-09T11:13:37Z [Term] id: HP:0012873 name: Absent vas deferens def: "Aplasia (congenital absence) of the vas deferens." [HPO:probinson] synonym: "Absent deferent duct" EXACT [ORCID:0000-0001-6908-9849] synonym: "Absent ductus deferens" EXACT [ORCID:0000-0001-6908-9849] synonym: "Congenital absence of the vas deferens" EXACT [] xref: SNOMEDCT_US:300506000 xref: SNOMEDCT_US:5286009 xref: SNOMEDCT_US:702610009 xref: UMLS:C0266444 is_a: HP:0012872 ! Abnormal vas deferens morphology created_by: hecht creation_date: 2014-06-09T11:14:47Z [Term] id: HP:0012874 name: Abnormal male reproductive system physiology def: "An abnormal functionality of the male genital system." [HPO:probinson] synonym: "Abnormal male genital system physiology" RELATED [] xref: UMLS:C4020716 is_a: HP:0000080 ! Abnormality of reproductive system physiology created_by: hecht creation_date: 2014-06-09T11:20:46Z [Term] id: HP:0012875 name: Abnormal ejaculation def: "Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract." [HPO:probinson] xref: SNOMEDCT_US:386674000 xref: UMLS:C2937350 is_a: HP:0012874 ! Abnormal male reproductive system physiology created_by: hecht creation_date: 2014-06-09T11:21:29Z [Term] id: HP:0012876 name: Premature ejaculation def: "The emission of semen and seminal fluid during the act of preparation for sexual intercourse, i.e. before there is penetration, or shortly after penetration." [HPO:probinson] synonym: "Premature ejaculation" EXACT layperson [] xref: MSH:D061686 xref: SNOMEDCT_US:44001008 xref: UMLS:C0033038 is_a: HP:0012875 ! Abnormal ejaculation created_by: hecht creation_date: 2014-06-09T11:24:37Z [Term] id: HP:0012877 name: Retrograde ejaculation def: "The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm." [HPO:probinson] xref: SNOMEDCT_US:50112006 xref: UMLS:C0403673 is_a: HP:0012875 ! Abnormal ejaculation created_by: hecht creation_date: 2014-06-09T11:25:24Z [Term] id: HP:0012878 name: Retarded ejaculation def: "Difficulty of a male in achieving orgasm." [HPO:probinson, pmid:24528812] synonym: "Delayed ejaculation" EXACT layperson [] xref: SNOMEDCT_US:15405008 xref: UMLS:C0234047 is_a: HP:0012875 ! Abnormal ejaculation created_by: hecht creation_date: 2014-06-09T11:29:28Z [Term] id: HP:0012879 name: Anejaculation def: "Inability to ejaculate." [HPO:probinson, pmid:24528812] synonym: "Ejaculatory incompetence" EXACT [] xref: SNOMEDCT_US:248782001 xref: SNOMEDCT_US:42288005 xref: UMLS:C0278106 is_a: HP:0012875 ! Abnormal ejaculation created_by: hecht creation_date: 2014-06-09T11:33:16Z [Term] id: HP:0012880 name: Abnormality of the labia minora def: "An anomaly of the labia minora, the folds of skin between the outer labia." [HPO:probinson] synonym: "Abnormality of the inner vaginal lips" EXACT layperson [] xref: UMLS:C4022696 is_a: HP:0000058 ! Abnormality of the labia creation_date: 2014-06-11T07:44:31Z [Term] id: HP:0012881 name: Abnormality of the labia majora def: "An anomaly of the outer labia." [HPO:probinson] synonym: "Abnormality of vaginal lips" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022695 is_a: HP:0000058 ! Abnormality of the labia created_by: hecht creation_date: 2014-06-11T07:46:41Z [Term] id: HP:0012882 name: Hyperplastic labia majora def: "Overgrowth of the outer labia." [HPO:probinson] synonym: "Enlarged labia majora" EXACT [] synonym: "Enlarged vaginal lips" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hyperplasia of labia majora" EXACT [] xref: UMLS:C4021060 is_a: HP:0012881 ! Abnormality of the labia majora created_by: hecht creation_date: 2014-06-11T07:54:42Z [Term] id: HP:0012883 name: Fallopian tube cyst def: "A fluid filled sac located in the Fallopian tube." [HPO:probinson] xref: SNOMEDCT_US:59401005 xref: UMLS:C0269173 is_a: HP:0011027 ! Abnormality of the fallopian tube created_by: hecht creation_date: 2014-06-11T08:00:04Z [Term] id: HP:0012884 name: Fallopian tube torsion def: "A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation." [HPO:probinson, pmid:24251052] comment: Fallopian tube torsion, though rare, should be considered in women of reproductive age with unilateral pelvic pain. Early diagnostic laparoscopy is important for an accurate diagnosis and could salvage the tube. synonym: "Twisted fallopian tube" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:46946009 xref: UMLS:C0269169 is_a: HP:0011027 ! Abnormality of the fallopian tube created_by: hecht creation_date: 2014-06-11T08:01:57Z [Term] id: HP:0012885 name: Fallopian tube duplication def: "The presence of a supernumerary Fallopian tube." [HPO:probinson, pmid:23532389] comment: Accessory fallopian tube is the congenital anomaly attached to the ampullary part of main tube. This accessory tube is common site of pyosalpinx, hydrosalpinx, cystic swelling and torsion. synonym: "Accessory fallopian tube" EXACT [] xref: SNOMEDCT_US:48672005 xref: UMLS:C0266375 is_a: HP:0011027 ! Abnormality of the fallopian tube created_by: hecht creation_date: 2014-06-11T08:05:41Z [Term] id: HP:0012886 name: Hemorrhagic ovarian cyst def: "An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst." [HPO:probinson, pmid:12928726] comment: The clinical signs and symptoms of hemorrhagic ovarian cyst (HOC) are variable and include such patients as asymptomatic cases or patients showing symptoms of acute abdomen. HOC is detected as pelvic masses by ultrasonography, but it is often misdiagnosed with other organic masses because of its variable clinical and sonographic findings, and in some cases may lead to laparotomy. xref: SNOMEDCT_US:119420007 xref: UMLS:C0473311 is_a: HP:0000138 ! Ovarian cyst created_by: hecht creation_date: 2014-06-11T09:26:15Z [Term] id: HP:0012887 name: Ovarian serous cystadenoma def: "A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue." [HPO:probinson, PMID:23766763] comment: Ovarian serous cystadenoma HAS a malignant potential several times greater than that of mucinous cystadenoma. It can be unilocular, parvilocular, or multilocular. It is often bilateral and papillary. The cysts may vary greatly in size. synonym: "Serous ovarian cyst" RELATED [] xref: SNOMEDCT_US:119421006 xref: UMLS:C0346170 xref: UMLS:C4020715 is_a: HP:0000138 ! Ovarian cyst created_by: hecht creation_date: 2014-06-11T09:32:06Z [Term] id: HP:0012888 name: Abnormality of the uterine cervix def: "An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix." [HPO:probinson] xref: UMLS:C4022694 is_a: HP:0000130 ! Abnormality of the uterus created_by: hecht creation_date: 2014-06-11T09:40:02Z [Term] id: HP:0012889 name: Cervical endometriosis def: "Abnormal growth of endometrial cells (which are normally limited to the uterus) within the cervix." [HPO:probinson] xref: SNOMEDCT_US:61640006 xref: UMLS:C0269107 is_a: HP:0012888 ! Abnormality of the uterine cervix is_a: HP:0030127 ! Endometriosis created_by: hecht creation_date: 2014-06-11T09:42:02Z [Term] id: HP:0012890 name: Posteriorly placed anus def: "Posterior malposition of the anus." [UToronto:htrang] xref: UMLS:C4022693 is_a: HP:0004397 ! Ectopic anus created_by: peter creation_date: 2014-06-23T10:55:41Z [Term] id: HP:0012891 name: High posterior hairline def: "Hair on the neck extends less inferiorly than usual." [UToronto:htrang] synonym: "High hairline at back of head" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4022692 is_a: HP:0030141 ! Abnormality of the posterior hairline created_by: peter creation_date: 2014-06-23T10:57:10Z [Term] id: HP:0012892 name: Facial muscle hypertrophy def: "Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve)." [UToronto:htrang] synonym: "Hyperplasia of facial muscles" RELATED [ORCID:0000-0001-5889-4463] synonym: "Increased size of facial muscles" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Large facial muscles" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4022691 xref: UMLS:C4280307 is_a: HP:0000301 ! Abnormality of facial musculature is_a: HP:0003712 ! Skeletal muscle hypertrophy created_by: peter creation_date: 2014-06-23T10:58:42Z [Term] id: HP:0012893 name: Neck muscle hypertrophy def: "Muscle hypertrophy affecting the muscles of the neck." [UToronto:htrang] synonym: "Hyperplasia of neck muscles" RELATED [ORCID:0000-0001-5889-4463] synonym: "Hypertrophy of cervical muscles" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased size of neck muscles" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Large neck muscles" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Overgrowth of neck muscles" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4022690 xref: UMLS:C4280306 is_a: HP:0003712 ! Skeletal muscle hypertrophy is_a: HP:0011006 ! Abnormality of the musculature of the neck created_by: peter creation_date: 2014-06-23T10:59:17Z [Term] id: HP:0012894 name: Paraspinal muscle hypertrophy def: "Muscle hypertrophy affecting the paraspinal muscles." [UToronto:htrang] xref: UMLS:C4022689 is_a: HP:0003712 ! Skeletal muscle hypertrophy created_by: peter creation_date: 2014-06-23T10:59:48Z [Term] id: HP:0012895 name: Scapular muscle hypertrophy def: "Muscle hypertrophy affecting the scapular muscles." [UToronto:htrang] xref: UMLS:C4022688 is_a: HP:0003712 ! Skeletal muscle hypertrophy created_by: peter creation_date: 2014-06-23T11:00:11Z [Term] id: HP:0012896 name: Abnormal motor evoked potentials def: "An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways." [HPO:probinson, pmid:10402095] xref: UMLS:C4022687 is_a: HP:0030178 ! Abnormality of central nervous system electrophysiology created_by: peter creation_date: 2014-06-23T11:04:24Z [Term] id: HP:0012897 name: Abnormal upper-limb motor evoked potentials def: "An anomaly identified by motor evoked potentials (MEPs) in the arm." [UToronto:htrang] synonym: "Abnormal motor evoked potentials in the upper limb" EXACT [] xref: UMLS:C4021059 is_a: HP:0012896 ! Abnormal motor evoked potentials created_by: peter creation_date: 2014-06-23T11:08:22Z [Term] id: HP:0012898 name: Abnormal lower-limb motor evoked potentials def: "An anomaly identified by motor evoked potentials (MEPs) in the leg." [UToronto:htrang] synonym: "Abnormal motor evoked potentials in the lower limb" EXACT [] xref: UMLS:C4021058 is_a: HP:0012896 ! Abnormal motor evoked potentials created_by: peter creation_date: 2014-06-23T11:09:22Z [Term] id: HP:0012899 name: Handgrip myotonia def: "Difficulty releasing one's grip associated with prolonged first handgrip relaxation times." [pmid:22987687, UToronto:htrang] synonym: "Grip myotonia" EXACT [] xref: UMLS:C1868623 is_a: HP:0002486 ! Myotonia created_by: peter creation_date: 2014-06-23T11:10:53Z [Term] id: HP:0012900 name: Myotonia of the face def: "Slowed relaxation of muscles in the face." [UToronto:htrang] xref: UMLS:C4022686 is_a: HP:0002486 ! Myotonia created_by: peter creation_date: 2014-06-23T11:14:55Z [Term] id: HP:0012901 name: Myotonia of the jaw def: "Slowed relaxation of muscles in the jaw." [UToronto:htrang] xref: UMLS:C4022685 is_a: HP:0002486 ! Myotonia created_by: peter creation_date: 2014-06-23T11:18:29Z [Term] id: HP:0012902 name: Myotonia of the lower limb def: "Slowed relaxation of muscles in the leg." [UToronto:htrang] xref: UMLS:C4022684 is_a: HP:0002486 ! Myotonia created_by: peter creation_date: 2014-06-23T11:18:59Z [Term] id: HP:0012903 name: Myotonia of the upper limb def: "Slowed relaxation of muscles in the arm." [UToronto:htrang] xref: UMLS:C4022683 is_a: HP:0002486 ! Myotonia created_by: peter creation_date: 2014-06-23T11:19:18Z [Term] id: HP:0012904 name: Cold-sensitive myotonia def: "An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold." [pmid:14617673, UToronto:htrang] xref: UMLS:C4022682 is_a: HP:0002486 ! Myotonia created_by: peter creation_date: 2014-06-23T11:20:32Z [Term] id: HP:0012905 name: Euryblepharon def: "Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening." [HPO:probinson, pmid:15249382, pmid:15530943, pmid:24719364] comment: The palpebral fissure length may be increased with an enlargement of the palpebral aperture. The lateral part is usually more everted defining euryblepharon. The whole length eversion of the lower lid defines congenital ectropion. Euryblepharon is characteristic of the Kabuki syndrome. synonym: "Kabuki syndrome eyelids" RELATED [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:400954002 xref: UMLS:C1303001 xref: UMLS:C4280305 is_a: HP:0000492 ! Abnormal eyelid morphology created_by: peter creation_date: 2014-06-23T11:43:42Z [Term] id: HP:0020006 name: Ciliary body coloboma def: "A `coloboma` (HP:0000589) of the ciliary body." [] xref: UMLS:C4072884 is_a: HP:0000589 ! Coloboma [Term] id: HP:0020034 name: Diffuse def: "A spatial pattern that is spread out, i.e., not localized." [HPO:probinson] xref: SNOMEDCT_US:19648000 xref: UMLS:C0205219 is_a: HP:0012836 ! Spatial pattern [Term] id: HP:0020035 name: Lower limb dysmetria def: "A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg." [HPO:mtaboada, PMID:25573808] is_a: HP:0002406 ! Limb dysmetria property_value: http://purl.org/dc/elements/1.1/date 2017-10-13T12:24:09Z xsd:dateTime created_by: robinp [Term] id: HP:0020036 name: Upper limb dysmetria def: "A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm." [HPO:mtaboada, PMID:20301629] is_a: HP:0002406 ! Limb dysmetria property_value: http://purl.org/dc/elements/1.1/date 2017-10-13T12:28:26Z xsd:dateTime created_by: robinp [Term] id: HP:0020037 name: Astasia def: "A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength." [HPO:mtaboada, PMID:27821973] is_a: HP:0100022 ! Abnormality of movement property_value: http://purl.org/dc/elements/1.1/date 2017-10-13T12:38:30Z xsd:dateTime created_by: robinp [Term] id: HP:0020038 name: Vertebrobasilar dolichoectasia def: "Elongation, dilatation, and/or tortuosity of the vertebrobasilar segment. The definition of VBD includes: (i) diameter of basilar or vertebral artery over 4.5 mm; or (ii) deviation of any portion more than 10 mm from the shortest expected course; and (iii) length of basilar artery over 29.5 mm or length of intracranial vertebral artery over 23.5 mm." [PMID:24765483] comment: The basilar artery arises from the confluence of the two vertebral arteries. is_a: HP:0030321 ! Abnormal vertebral artery morphology property_value: http://purl.org/dc/elements/1.1/date 2017-10-13T12:54:00Z xsd:dateTime created_by: robinp [Term] id: HP:0020041 name: Double elevator palsy def: "A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia." [ORCID:0000-0003-0986-4123, PMID:23479532] is_a: HP:0025068 ! Incomitant strabismus property_value: http://purl.org/dc/elements/1.1/date 2017-12-20T17:09:14Z xsd:dateTime created_by: robinp [Term] id: HP:0020042 name: Double depressor palsy def: "An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye." [ORCID:0000-0003-0986-4123] is_a: HP:0025068 ! Incomitant strabismus property_value: http://purl.org/dc/elements/1.1/date 2017-12-20T17:12:54Z xsd:dateTime created_by: robinp [Term] id: HP:0020043 name: Vertical incomitant strabismus def: "A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and/or downwards." [ORCID:0000-0003-0986-4123] is_a: HP:0025068 ! Incomitant strabismus property_value: http://purl.org/dc/elements/1.1/date 2017-12-20T17:14:25Z xsd:dateTime created_by: robinp [Term] id: HP:0020044 name: Horizontal incomitant strabismus comment: A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts horizontally. is_a: HP:0025068 ! Incomitant strabismus property_value: http://purl.org/dc/elements/1.1/date 2017-12-20T17:14:39Z xsd:dateTime created_by: robinp [Term] id: HP:0020045 name: Esodeviation def: "A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally." [ORCID:0000-0003-0986-4123] synonym: "Convergent strabismus" EXACT [] is_a: HP:0000486 ! Strabismus property_value: http://purl.org/dc/elements/1.1/date 2017-12-20T17:20:06Z xsd:dateTime created_by: robinp [Term] id: HP:0020046 name: Accommodative esotropia def: "A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex." [ORCID:0000-0003-0986-4123] comment: Accommodative esotropia refers to strabismus (cross of the eyes) that occurs with focusing efforts of the eyes. is_a: HP:0000565 ! Esotropia property_value: http://purl.org/dc/elements/1.1/date 2017-12-20T17:25:43Z xsd:dateTime created_by: robinp [Term] id: HP:0020047 name: Abnormal myeloid cell morphology def: "Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage." [] is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues property_value: http://purl.org/dc/elements/1.1/date 2017-12-22T14:32:10Z xsd:dateTime created_by: robinp [Term] id: HP:0020048 name: Reduced bone-marrow pro-B cell count def: "A reduction in the numbers of pro-B cells (defined by coexpression of CD34 and CD19). Earlier B-cell precursors are defined by expressing surface CD34 and cytoplasmic TdT in the absence of CD19." [] is_a: HP:0005561 ! Abnormality of bone marrow cell morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-22T14:57:04Z xsd:dateTime created_by: robinp [Term] id: HP:0020049 name: Exodeviation def: "A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally." [ORCID:0000-0003-0986-4123] synonym: "Divergent strabismus" EXACT [] is_a: HP:0000486 ! Strabismus property_value: http://purl.org/dc/elements/1.1/date 2017-12-22T15:01:01Z xsd:dateTime created_by: robinp [Term] id: HP:0020050 name: Anti-granulocyte-macrophage colony stimulating factor antibody positivity def: "The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor." [PMID:23509356] comment: Anti-granulocyte macrophage-colony stimulating factor (GM-CSF) autoantibodies have been shown to cause acquired pulmonary alveolar proteinosis (PAP)(1, 2), a chronic lung disease characterized by abnormalities of surfactant metabolism. synonym: "Anti-GM-CSF antibody positivity" EXACT HP:0045077 [] is_a: HP:0030057 ! Autoimmune antibody positivity property_value: http://purl.org/dc/elements/1.1/date 2017-12-22T15:05:06Z xsd:dateTime created_by: robinp [Term] id: HP:0020054 name: Abnormal erythrocyte physiology def: "Any functional abnormality of erythrocytes (red-blood cells)." [] is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues property_value: http://purl.org/dc/elements/1.1/date 2018-09-28T23:39:07Z xsd:dateTime created_by: robinp [Term] id: HP:0020058 name: Abnormal red blood cell count def: "Any deviation from the normal number of red blood cells per volume in the circulation." [] synonym: "Abnormal RBC count" EXACT HP:0045077 [] is_a: HP:0001877 ! Abnormal erythrocyte morphology property_value: http://purl.org/dc/elements/1.1/date 2018-09-28T23:44:47Z xsd:dateTime created_by: robinp [Term] id: HP:0020059 name: Increased red blood cell count def: "An abnormal elevation above the normal number of red blood cells per volume in the circulation." [] synonym: "Increased RBC count" EXACT HP:0045077 [] is_a: HP:0020058 ! Abnormal red blood cell count property_value: http://purl.org/dc/elements/1.1/date 2018-09-28T23:45:36Z xsd:dateTime created_by: robinp [Term] id: HP:0020060 name: Decreased red blood cell count def: "An abnormal reduction below the normal number of red blood cells per volume in the circulation." [] synonym: "Decreased RBC count" EXACT HP:0045077 [] is_a: HP:0020058 ! Abnormal red blood cell count property_value: http://purl.org/dc/elements/1.1/date 2018-09-28T23:46:01Z xsd:dateTime created_by: robinp [Term] id: HP:0020061 name: Abnormal hemoglobin concentration def: "Any deviation from the normal concentration of hemoglobin in the blood." [] synonym: "Abnormal Hb concentration" EXACT HP:0045077 [] is_a: HP:0001877 ! Abnormal erythrocyte morphology property_value: http://purl.org/dc/elements/1.1/date 2018-09-28T23:52:35Z xsd:dateTime created_by: robinp [Term] id: HP:0020062 name: Decreased hemoglobin concentration def: "An abnormal reduction below normal hemoglobin concentration in the circulation." [] synonym: "Decreased Hb concentration" EXACT HP:0045077 [] is_a: HP:0020061 ! Abnormal hemoglobin concentration property_value: http://purl.org/dc/elements/1.1/date 2018-09-28T23:53:11Z xsd:dateTime created_by: robinp [Term] id: HP:0020063 name: Increased hemoglobin concentration def: "An abnormal elevation above normal hemoglobin concentration in the circulation." [] synonym: "Increased Hb concentration" EXACT HP:0045077 [] is_a: HP:0020061 ! Abnormal hemoglobin concentration property_value: http://purl.org/dc/elements/1.1/date 2018-09-28T23:53:24Z xsd:dateTime created_by: robinp [Term] id: HP:0020064 name: Abnormal eosinophil count def: "Any deviation from the normal number of eosinophils per volume in the blood circulation." [] is_a: HP:0001879 ! Abnormal eosinophil morphology is_a: HP:0032309 ! Abnormal granulocyte count property_value: http://purl.org/dc/elements/1.1/date 2018-10-17T13:48:52Z xsd:dateTime created_by: robinp [Term] id: HP:0020071 name: Viremia def: "The presence of virus in the blood." [] is_a: HP:0031863 ! Bloodstream infectious agent property_value: http://purl.org/dc/elements/1.1/date 2019-01-21T22:33:34Z xsd:dateTime created_by: peter [Term] id: HP:0020072 name: Persistent EBV viremia def: "Persistent presence of Epstein-Barr virus in the blood." [] comment: Primary EBV infection is often asymptomatic in the immunocompetent host. In immunodeficient patients, however, primary EBV infection or secondary reactivation may result in persistent symptomatic EBV viremia, a clinical condition with a prolonged (over 6 months) and distinct symptomatic phase with fever, lymphadenophathy and several other possible features such as hepatitis and pneumonia. Persistent symptomatic EBV viremia can be associated with lymphoma, lymphoproliferative disease, hemophagocyticlymphohistiocytosis (HLH) and aplastic anemia, but most typically goes into spontaneous remission. is_a: HP:0032248 ! Persistent viremia property_value: http://purl.org/dc/elements/1.1/date 2019-01-21T22:36:17Z xsd:dateTime created_by: robinp [Term] id: HP:0020073 name: Hypopigmented macule def: "A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation." [PMID:24023426] comment: A reduction in skin pigmentation can be the result of factors such as decreased melanin content or anomalous melanin distribution. In diagnosing pigmentary disorders, Wood's light examination plays an important role, distinguishing hypo- and depigmentation. While a decreased pigment production is reported as hypopigmentation, depigmentation has been defined as loss of pigment. In a similar way, partial lack of melanin is known as hypomelanosis while amelanosis is the total absence of melanin. is_a: HP:0012733 ! Macule property_value: http://purl.org/dc/elements/1.1/date 2019-01-25T13:41:52Z xsd:dateTime created_by: robinp [Term] id: HP:0020074 name: Crystalluria def: "The presence of crystals in the urine." [PMID:26509782] comment: Crystalluria is a marker of urine supersaturation with substances deriving from metabolic disorders, inherited diseases or drugs. The investigation of crystalluria must be done according to a protocol which includes the delivery to the laboratory of a proper urine sample, the use of a microscope equipped with polarized light, the accurate knowledge of urine pH, and a comprehensive examination of the crystals, which is based on their identification, quantification and size measurement. For unusual crystals, infrared spectroscopy may also be needed. The main urinary crystalline categories include: calcium oxalates, calcium phosphates, uric acids and urates, struvite, aminoacids (cystine), purines (2,8-dihydroxyadenine and xanthine) and drugs (e.g. sulfamethoxazole, amoxycillin, ceftriaxone, atazanavir). is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T13:07:52Z xsd:dateTime created_by: robinp [Term] id: HP:0020075 name: Leucine crystalluria def: "The presence of leuucine crystals in the urine." [] is_a: HP:0020074 ! Crystalluria property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T13:13:14Z xsd:dateTime created_by: robinp [Term] id: HP:0020076 name: Wrist ganglion def: "A benign soft tissue tumor of the wrist usually found in the dorsal aspect of the wrist and communicate with the joint via a pedicle. This pedicle usually originates not only at the scapholunate ligament, but also may arise from a number of other sites over the dorsal aspect of the wrist capsule." [PMID:17488856, PMID:19468907] comment: Thirteen to twenty percent of ganglia are found on the volar aspect of the wrist, arising via a pedicle from the radio scaphoid/scapholunate interval, scaphotrapezial joint, or the metacarpotrapezial joint, in that order of frequency. synonym: "Ganglion cyst of the wrist" EXACT [] is_a: HP:0003019 ! Abnormality of the wrist property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T13:18:34Z xsd:dateTime created_by: robinp [Term] id: HP:0020077 name: Carnitinuria def: "An elevated level of carnitine in the urine." [PMID:11196742, UCDenver:tjcallahan] is_a: HP:0031980 ! Abnormal urine carboxylic acid level property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T13:29:26Z xsd:dateTime created_by: robinp [Term] id: HP:0020078 name: Alaninuria def: "An increased level of alanine in the urine." [UCDenver:tjcallahan] synonym: "Increased urinary alanine" EXACT [] is_a: HP:0008353 ! Neutral hyperaminoaciduria property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T13:31:43Z xsd:dateTime created_by: robinp [Term] id: HP:0020079 name: Beta-alaninuria def: "An increased level of beta-alanine in the urine." [] comment: Beta-alanine is a component of carnosine, anserine and pantothenic acid. It is comprised of propionic acid with the amino group in the 3-position. is_a: HP:0008353 ! Neutral hyperaminoaciduria property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T13:34:18Z xsd:dateTime created_by: robinp [Term] id: HP:0020080 name: Erythrocyte inclusion bodies def: "Nuclear or cytoplasmic aggregates of substances in red blood cells." [] is_a: HP:0001877 ! Abnormal erythrocyte morphology property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T13:41:04Z xsd:dateTime created_by: robinp [Term] id: HP:0020081 name: Pappenheimer bodies def: "A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain)." [PMID:15054821, PMID:21250106] is_a: HP:0020080 ! Erythrocyte inclusion bodies property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T13:56:37Z xsd:dateTime created_by: robinp [Term] id: HP:0020082 name: Heinz bodies def: "A type of erythrocyte inclusion composed of denatured hemoglobin." [PMID:21250106, PMID:24713708] is_a: HP:0020080 ! Erythrocyte inclusion bodies property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T14:00:35Z xsd:dateTime created_by: robinp [Term] id: HP:0020083 name: Furuncle def: "An infection of a hair follicle that extends subcutaneously, forming an abscess." [] synonym: "Boil" EXACT layperson [] is_a: HP:0025084 ! Folliculitis property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T16:59:51Z xsd:dateTime created_by: robinp [Term] id: HP:0020084 name: Carbuncle def: "A group of infected hair follicles, larger and deeper than a furuncle." [] is_a: HP:0025084 ! Folliculitis property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T17:02:42Z xsd:dateTime created_by: robinp [Term] id: HP:0020085 name: Infection following live vaccination def: "An infection resulting from live attenuated vaccines (LAV), that is, a vaccine prepared from living viruses or bacteria that have been weakened under laboratory conditions. LAV vaccines will replicate in a vaccinated individual and produce an immune response but usually cause mild or no disease. are derived from disease-causing pathogens." [] is_a: HP:0032101 ! Unusual infection property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T17:21:47Z xsd:dateTime created_by: robinp [Term] id: HP:0020086 name: BCGitis def: "Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination." [PMID:24722620] comment: The Bacillus Calmette-Guerin (BCG) vaccine has existed for 80 years and is one of the most widely used of all current vaccines. The BCG vaccine has a protective effect against meningitis and disseminated tuberculosis in children. or most children, BCG vaccination is harmless. However, infection, even disseminated infection, caused by BCG has occasionally been reported. The incidence of BCG infection is approximately one in ten thousand to a million. The BCG-induced disease phenotypes were designated as local, regional, distant, or disseminated pattern. The former two patterns were conventionally termed as BCGitis and the latter two as BCGosis. is_a: HP:0020085 ! Infection following live vaccination property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T17:25:28Z xsd:dateTime created_by: robinp [Term] id: HP:0020087 name: BCGosis def: "Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination." [PMID:24722620] comment: The Bacillus Calmette-Guerin (BCG) vaccine has existed for 80 years and is one of the most widely used of all current vaccines. The BCG vaccine has a protective effect against meningitis and disseminated tuberculosis in children. or most children, BCG vaccination is harmless. However, infection, even disseminated infection, caused by BCG has occasionally been reported. The incidence of BCG infection is approximately one in ten thousand to a million. The BCG-induced disease phenotypes were designated as local, regional, distant, or disseminated pattern. The former two patterns were conventionally termed as BCGitis and the latter two as BCGosis. is_a: HP:0020085 ! Infection following live vaccination property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T17:27:13Z xsd:dateTime created_by: robinp [Term] id: HP:0020088 name: Post-vaccination measles def: "Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases." [PMID:29152266] synonym: "Vaccine associated measles" EXACT [] is_a: HP:0020085 ! Infection following live vaccination property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T17:31:45Z xsd:dateTime created_by: robinp [Term] id: HP:0020089 name: Post-vaccination rubella def: "Infection with the rubella virus of the live-attenuated vaccine." [] is_a: HP:0020085 ! Infection following live vaccination property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T17:36:47Z xsd:dateTime created_by: robinp [Term] id: HP:0020090 name: Post-vaccination polio def: "Infection with live attenuated polio vaccine following vaccination. This is an extreemely rare event that may indicate immunocompromise." [PMID:25285130] is_a: HP:0020085 ! Infection following live vaccination property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T17:38:52Z xsd:dateTime created_by: robinp [Term] id: HP:0020091 name: Post-vaccination rotavirus infection def: "Infection with live attenuated rotavirus vaccine following vaccination." [PMID:21477676] is_a: HP:0020085 ! Infection following live vaccination property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T17:42:33Z xsd:dateTime created_by: robinp [Term] id: HP:0020093 name: Recurrent deep organ abscess formation def: "Repeated episodes of the formation of abscesses in organs. An abscess is a circumscribed area of pus or necrotic debris in the parenchyma or an organ." [] is_a: HP:0032169 ! Severe infection property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T17:44:58Z xsd:dateTime created_by: robinp [Term] id: HP:0020095 name: Prolonged need of intravenous antibiotic therapy def: "Clinical assessment of a requirement to treat with intravenous antibiotics over an unusually prolonged period of time." [] is_a: HP:0032169 ! Severe infection property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T17:48:52Z xsd:dateTime created_by: robinp [Term] id: HP:0020096 name: Recurrent streptococcal infections def: "Increased susceptibility to streptococcal infections, as manifested by recurrent episodes of streptococcal infections." [] is_a: HP:0002718 ! Recurrent bacterial infections property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T17:59:21Z xsd:dateTime created_by: robinp [Term] id: HP:0020097 name: Infection due to encapsulated bacteria def: "An infection by an encapsulated bacterial agent. Isolates which cause invasive disease are usually surrounded by a polysaccharide capsule, which is a major virulence factor and the key antigen in protective protein-polysaccharide conjugate vaccines." [PMID:30515161] comment: Encapsulated bacteria have been responsible for the majority of bacteremia and meningitis in children for many decades. In children aged over 3 months, Streptococcus pneumoniae (pneumococcus), Neisseria meningitidis (meningococcus), and Haemophilus influenzae have been the predominant pathogens, with H. influenzae being a less significant problem since the introduction of vaccines against type b organisms. Disease is most common in young children less than 5 years of age and older adults aged over 65 years. In neonates and young infants, Group B Streptococcus (GBS) is the major cause of bacteremia and meningitis. These organisms have the shared characteristic of being surrounded by a polysaccharide capsule, which is a key virulence factor because it helps the bacteria evade complement deposition and subsequent phagocytosis and killing. These polysaccharides have also been the basis for successful vaccines against all except GBS, because immune responses against the polysaccharide capsule are the primary mechanism of protection for the human host. Each species can be encapsulated by polysaccharides of different biochemical compositions, which has been used for categorization into capsular groups or serotypes. is_a: HP:0032260 ! Opportunistic bacterial infection property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T18:54:35Z xsd:dateTime created_by: robinp [Term] id: HP:0020098 name: Herpes encephalitis def: "Infection of the brain parenchyma with herpes simplex virus, resukting in inflammation of the brain parenchyma with neurologic dysfunction." [PMID:27106239] comment: Herpes encephalitis may occur in mmunocompromised patients, but HSV-1 is consistently the single most common cause of sporadic encephalitis worldwide. is_a: HP:0011450 ! Unusual CNS infection property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T18:58:22Z xsd:dateTime created_by: robinp [Term] id: HP:0020099 name: Severe norovirus infection def: "An unusually severe course of infection with Human norovirus, previously known as Norwalk virus. Norovirus, an RNA virus of the family Caliciviridae, is a human enteric pathogen. Norovirus infection-associated illness may also be more prolonged and severe in immunocompromised individuals and may be associated with remarkably persistent viral excretion in some of these individuals." [PMID:25567225] is_a: HP:0032169 ! Severe infection property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T19:02:54Z xsd:dateTime created_by: robinp [Term] id: HP:0020100 name: Unusual fungal infection def: "An unusual fungal infection that is regarded as a sign of a pathological susceptibility to infection by a fungal agent." [] is_a: HP:0032101 ! Unusual infection property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T19:05:28Z xsd:dateTime created_by: robinp [Term] id: HP:0020101 name: Invasive fungal infection def: "Fungal infection characterized by invasion of host tissues." [PMID:24718393] comment: Invasive fungal infections are a significant health problem in immunocompromised patients. Major risk factors for IFI include neutropenia less than 500 neutrophils/ml for more than 10 days, haematological malignancies, bone marrow transplantation, prolonged (over 4 wk) treatment with corticosteroids; prolonged (over 7 days) stays in intensive care, chemotherapy, HIV infection, invasive medical procedures, and the newer immune suppressive agents. is_a: HP:0020100 ! Unusual fungal infection property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T19:11:15Z xsd:dateTime created_by: robinp [Term] id: HP:0020102 name: Pneumocystis jirovecii pneumonia def: "An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnoea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing." [PMID:26281787] comment: Pneumocystis, initially considered to be a protozoan, later has been assigned to the kingdom of fungi. is_a: HP:0032255 ! Opportunistic fungal infection property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T19:15:19Z xsd:dateTime created_by: robinp [Term] id: HP:0020103 name: Invasive pulmonary aspergillosis def: "Infection of the lungs with aspergillus. In the respiratory mucosa, the spores may germinate into hyphae, which in turn can invade the mucosa leading to invasive pulmonary aspergillosis." [PMID:25656673] comment: Invasive pulmonary aspergillosis usually occurs in severely immunocompromised patients. Classic at-risk patients are those with prolonged neutropenia, either due to chemotherapy or immunosuppressive therapy, post hematopoietic stem cell transplant (SCT), or solid organ transplant. is_a: HP:0020101 ! Invasive fungal infection property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T19:17:44Z xsd:dateTime created_by: robinp [Term] id: HP:0020104 name: Unusual protozoan infection def: "An unusual protozoan infection that is regarded as a sign of a pathological susceptibility to infection by a protozoal agent." [] is_a: HP:0032101 ! Unusual infection property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T19:21:25Z xsd:dateTime created_by: robinp [Term] id: HP:0020105 name: Severe toxoplasmosis def: "Toxoplasmosis is a widespread parasitic infection that is frequently asymptomatic in immunocompetent patients. However, this obligate intracellular protozoan parasite can evade the immune system and persist for the life of its host in cyst form, predominantly in the brain, retina, and muscles. Reactivation of latent cysts may occur when the immune system fails to maintain cytokine pressure, which mainly relies on gamma interferon (IFN-gamma). Toxoplasmosis is a life-threatening infection in immunocompromised patients (ICPs)." [PMID:25762774] is_a: HP:0020104 ! Unusual protozoan infection property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T19:22:59Z xsd:dateTime created_by: robinp [Term] id: HP:0020106 name: Severe giardiasis def: "An unusually severe infection due to Giardia lamblia, also called Giardia duodenalis or Giardia intestinalis, which is a protozoan parasite of the small intestine that causes extensive morbidity worldwide." [PMID:11148005, PMID:17042927] comment: Several reports of giardiasis in immunocompromised patients exist. is_a: HP:0020104 ! Unusual protozoan infection property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T19:25:29Z xsd:dateTime created_by: robinp [Term] id: HP:0020107 name: Unusual helminthic infection def: "An unusual helminthic infection that is regarded as a sign of a pathological susceptibility to infection by a worm (helminth)." [PMID:18382743] is_a: HP:0032101 ! Unusual infection property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T19:28:54Z xsd:dateTime created_by: robinp [Term] id: HP:0020108 name: Unusual parasitic infection def: "An unusual parasitic infection that is regarded as a sign of a pathological susceptibility to infection by a parasite." [PMID:16148530] is_a: HP:0032101 ! Unusual infection property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T19:30:24Z xsd:dateTime created_by: robinp [Term] id: HP:0020110 name: Bone fracture def: "A partial or complete breakage of the continuity of a bone." [] is_a: HP:0011842 ! Abnormality of skeletal morphology property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T20:45:29Z xsd:dateTime created_by: robinp [Term] id: HP:0020111 name: Abnormal CD4+CD25+ regulatory T cell proportion def: "A deviation from the normal proportion of natural T regulatory cells (Treg) in the blood circulation. Natural Treg are characterised as expressing both the CD4 T cell co-receptor and CD25, which is a component of the IL-2 receptor. Treg are thus CD4+ CD25+. Expression of the nuclear transcription factor Forkhead box P3 (FoxP3) is the defining property which determines natural Treg development and function." [PMID:19751267] comment: Identification of Treg cells remains problematic, because accumulating evidence suggests that all the presently-used Treg markers (CD25, CTLA-4, GITR, LAG-3, CD127 and Foxp3) represent general T-cell activation markers, rather than being truly Treg-specific. is_a: HP:0025540 ! Abnormal T cell subset distribution property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T20:48:36Z xsd:dateTime created_by: robinp [Term] id: HP:0020112 name: Elevated proportion of CD4+CD25+ regulatory T cells def: "An abnormally increased proportion of natural T regulatory cells (Treg) in the blood circulation." [] is_a: HP:0020111 ! Abnormal CD4+CD25+ regulatory T cell proportion property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T20:50:53Z xsd:dateTime created_by: robinp [Term] id: HP:0020113 name: Reduced proportion of CD4+CD25+ regulatory T cells def: "An abnormally decreased proportion of natural T regulatory cells (Treg) in the blood circulation." [] is_a: HP:0020111 ! Abnormal CD4+CD25+ regulatory T cell proportion property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T20:51:32Z xsd:dateTime created_by: robinp [Term] id: HP:0020114 name: Persistent human papillomavirus infection def: "Human papillomaviruses (HPVs) are small oncogenic viruses. HPV has been shown to cause a variety of lesions and malignancies, which predominantly affect the anogenital region. Low-risk, non-oncogenic HPV types are associated with anogenital warts and recurrent respiratory papillomatosis while high-risk, oncogenic types are associated with cervical, penile, anal, vaginal, vulvar, and oropharyngeal cancers. Infection with anogenital HPV is usually asymptomatic and resolves spontaneously without consequences in the immunocompetent host. When disease does occur, the most common manifestation is genital warts, which may be small papules, or flat, smooth or pedunculated lesions. This resolution of HPV lesions is not generally seen in the immunosuppressed, resulting in severe, persistent and extensive manifestations of HPV disease." [PMID:24643184, PMID:26239127] is_a: HP:0032169 ! Severe infection property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T20:54:37Z xsd:dateTime created_by: robinp [Term] id: HP:0025004 name: Hallux rigidus def: "Osteoarthritis of the metatarsophalangeal joint of the first toe." [HPO:probinson, PMID:24649409] comment: Hallux rigidus is characterised by arthralgia, which is usually worsened by walking. With time the joint enlarges and the symptoms become more pronounced with pain at the dorsal bony prominence of the first metatarsophalengeal joint (MTPJ) and decreased range of motion, especially dorsiflexion. In this process the destruction of the cartilage commonly starts at the dorsal portion of the metatarsal head and the bony prominence might impinge against the proximal phalanx.. Physical examination usually shows a painful, tender and swollen first MTPJ with limited motion and pain usually when dorsiflexed. Typical radiographic findings are asymmetric joint narrowing and a flattened metatarsal head. With advancement of the disease more of the joint surface is involved and subchondral cysts, sclerosis and bony proliferation at the joint margins occur and the joint narrowing progresses [PMID:24649409]. synonym: "Arthritis of the big toe" EXACT layperson [] xref: MSH:D020859 xref: SNOMEDCT_US:6654000 xref: UMLS:C0264134 is_a: HP:0001844 ! Abnormality of the hallux property_value: http://purl.org/dc/elements/1.1/date 2016-06-25T09:23:22Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025005 name: Thickening of glomerular capillary wall def: "Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself." [HPO:probinson, PMID:6879730] is_a: HP:0025006 ! Abnormal glomerular capillary morphology property_value: http://purl.org/dc/elements/1.1/date 2016-08-06T22:31:55Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025006 name: Abnormal glomerular capillary morphology def: "A structural anomaly of the capillary blood vessels in the renal glomerulus." [] is_a: HP:0000095 ! Abnormality of renal glomerulus morphology property_value: http://purl.org/dc/elements/1.1/date 2016-08-06T22:53:26Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025007 name: Ectopic fovea def: "An abnormal anatomic position of the fovea, the small, central pit composed of closely packed cones that is located in the macula of the retina." [] synonym: "Ectopic macula" BROAD [] is_a: HP:0000493 ! Abnormal foveal morphology property_value: http://purl.org/dc/elements/1.1/date 2016-08-06T23:07:53Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025008 name: Tracheal tug on inspiration def: "Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree." [UToronto:chum] is_a: HP:0002795 ! Functional respiratory abnormality property_value: http://purl.org/dc/elements/1.1/date 2016-08-06T23:22:12Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025009 name: Forward slanting upper incisors def: "The upper incisors deviate from the normal angle of being roughly parallel to the surface of the face and instead slant outwards." [] synonym: "Forward directed upper incisors" EXACT [] synonym: "Proclination of the upper incisors" EXACT [] synonym: "Protruding upper incisors" EXACT [] is_a: HP:0011062 ! Misalignment of incisors property_value: http://purl.org/dc/elements/1.1/date 2016-08-07T12:52:55Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025010 name: Foveal atrophy def: "Partial or complete loss of foveal tissue that was once present." [HPO:probinson] comment: Loss of foveal tissue (atrophy) may be inferred by a medical history of loss of vision and the observation of a foveal lesion such as reduced foveal thickness on optical coherence tomography (OCT). is_a: HP:0000493 ! Abnormal foveal morphology property_value: http://purl.org/dc/elements/1.1/date 2016-08-07T13:52:09Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025011 name: Pyriform aperture stenosis def: "Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose." [HPO:probinson] comment: Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of nasal airway obstruction that clinically mimics choanal atresia, but needs to be differentiated from the latter because of the widely divergent modes of management [PMID:21423901]. is_a: HP:0005105 ! Abnormal nasal morphology property_value: http://purl.org/dc/elements/1.1/date 2016-08-07T22:32:49Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025012 name: Status cribrosum def: "Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations." [HPO:probinson] is_a: HP:0002134 ! Abnormality of the basal ganglia property_value: http://purl.org/dc/elements/1.1/date 2016-08-07T23:40:40Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025013 name: Decerebrate rigidity def: "A type of rigidity that is manifested by an exaggerated extensor posture of all extremities." [UToronto:chum] comment: Decerebrate rigidity results from release of vestibular nuclei from cerebral control because of a brainstem lesion (i.e., decerebration). synonym: "Decerebrate posturing" EXACT [] is_a: HP:0002063 ! Rigidity property_value: http://purl.org/dc/elements/1.1/date 2016-08-09T11:43:43Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025014 name: Subcutaneous spheroids def: "Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray." [PMID:20847697] comment: This feature can be observed in individuals with the classic type of Ehlers Danlos syndrome. is_a: HP:0001482 ! Subcutaneous nodule property_value: http://purl.org/dc/elements/1.1/date 2016-08-12T11:18:11Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025015 name: Abnormal vascular morphology is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0030680 ! Abnormality of cardiovascular system morphology property_value: http://purl.org/dc/elements/1.1/date 2016-08-12T11:24:56Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025016 name: Abnormal capillary morphology def: "A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues." [] is_a: HP:0025015 ! Abnormal vascular morphology property_value: http://purl.org/dc/elements/1.1/date 2016-08-12T11:42:27Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025017 name: Capillary fragility def: "Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises)." [] comment: The formation of petechiae distal to a tourniquet or sphygmomanometer on release of pressure is known as the Rumpel-Leede sign. This sign was reported in 1909 by Theodor Rumpel, and again independently in 1911 by Carl Stockbridge Leede. Historically, the tourniquet test (or Rumpel-Leede Capillary-Fragility Test) was used to assess patients for thrombocytopenia and capillary fragility. Today, the Rumpel-Leede sign may be observed iatrogenically in the context of continuous blood-pressure monitoring [PMID:24382085]. is_a: HP:0025018 ! Abnormal capillary physiology property_value: http://purl.org/dc/elements/1.1/date 2016-08-12T11:50:33Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025018 name: Abnormal capillary physiology def: "A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues." [] is_a: HP:0030163 ! Abnormal vascular physiology property_value: http://purl.org/dc/elements/1.1/date 2016-08-12T11:56:48Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025019 name: Arterial rupture def: "Sudden breakage of an artery leading to leakage of blood from the circulation." [HPO:probinson] is_a: HP:0025323 ! Abnormal arterial physiology property_value: http://purl.org/dc/elements/1.1/date 2016-08-12T12:03:50Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025020 name: Elevated prostate-specific antigen level def: "An increased concentration of prostate specific antigen (PSA) in the circulation." [PMID:26366236] comment: Prostate-specific antigen (PSA) screening for prostate cancer has been common practice although the utility of general PSA screening has been called into question. is_a: HP:0010876 ! Abnormal circulating protein level property_value: http://purl.org/dc/elements/1.1/date 2016-08-12T12:13:13Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025021 name: Abnormal erythrocyte sedimentation rate def: "A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling." [PMID:10524488] synonym: "Abnormal ESR" EXACT layperson [] synonym: "Abnormal Westergren sedimentation rate" EXACT [] is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: http://purl.org/dc/elements/1.1/date 2016-08-22T10:26:22Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025022 name: Decreased erythrocyte sedimentation rate def: "A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling." [PMID:10524488] synonym: "Decreased ESR" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] synonym: "Low ESR" EXACT layperson [] is_a: HP:0025021 ! Abnormal erythrocyte sedimentation rate property_value: http://purl.org/dc/elements/1.1/date 2016-08-22T10:39:06Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025023 name: Rectal atresia def: "A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum." [HPO:probinson, PMID:20006038] synonym: "Atresia of the rectum" EXACT [] is_a: HP:0002034 ! Abnormality of the rectum is_a: HP:0011100 ! Intestinal atresia property_value: http://purl.org/dc/elements/1.1/date 2016-08-26T11:13:58Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025024 name: Megarectum def: "An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum." [HPO:probinson, PMID:10869000] comment: Patients with idiopathic megarectum have a dilated rectum but the proximal colon is usually of normal diameter. The condition usually starts in childhood or adolescence, and faecal impaction is common. By contrast, patients with idiopathic megacolon usually do not experience impaction, and the symptoms often begin in adult life [PMID:9301507]. is_a: HP:0002034 ! Abnormality of the rectum property_value: http://purl.org/dc/elements/1.1/date 2016-08-26T11:18:38Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025025 name: Rectovestibular fistula def: "A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening." [HPO:probinson] comment: The condition can cause feces and gas to exit the vaginal vestibule. synonym: "Vestibular fistula" EXACT [] is_a: HP:0100590 ! Rectal fistula property_value: http://purl.org/dc/elements/1.1/date 2016-08-26T11:49:07Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025026 name: H-type rectovestibular fistula def: "Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract." [PMID:20223314] is_a: HP:0025025 ! Rectovestibular fistula property_value: http://purl.org/dc/elements/1.1/date 2016-08-26T11:58:54Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025027 name: Osteoma cutis def: "The term osteoma refers to the anomalous presence of ossification (bone formation) in the interior of the dermis or epidermis. The dermal or subcutaneous bone formation presents as stony hard nodules. The osteomata appear as irregular, hardened small nodules that are well circumscribed and generally of the same color as the skin." [HPO:probinson, PMID:21152797, PMID:26273166] synonym: "Cutaneous osteosis" EXACT [] synonym: "Miliary osteoma" EXACT [] synonym: "Osteomatosis" EXACT [] is_a: HP:0200036 ! Skin nodule property_value: http://purl.org/dc/elements/1.1/date 2016-08-26T12:11:51Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025028 name: Abnormality of enteric nervous system morphology def: "A structural anomaly of nerves of the enteric nervous system." [] comment: The enteric nervous system represents a collection of about 500 million neurons that control virtually all gut functions (including motility), largely independent from the central nervous system. The enteric nervous system is located in the gut wall and extends throughout its length from the esophagus to the internal anal sphincter. is_a: HP:0002242 ! Abnormal intestine morphology is_a: HP:0012331 ! Abnormal autonomic nervous system morphology property_value: http://purl.org/dc/elements/1.1/date 2016-08-27T11:10:48Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025029 name: Abnormality of enteric neuron morphology is_a: HP:0025028 ! Abnormality of enteric nervous system morphology property_value: http://purl.org/dc/elements/1.1/date 2016-08-27T11:22:10Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025030 name: Enteric neuronal degeneration def: "Deterioration of enteric neurons with impairment of enteric neuronal structure. Typical neuropathological findings include qualitative (e.g., neuronal swelling, intranuclear inclusions, axonal degeneration) and quantitative (e.g., reduction in the number of neurons) abnormalities of the enteric neurons." [] synonym: "Degenerative enteric neuropathy" RELATED [] is_a: HP:0025029 ! Abnormality of enteric neuron morphology property_value: http://purl.org/dc/elements/1.1/date 2016-08-27T11:43:00Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025031 name: Abnormality of the digestive system comment: Any anomaly of the digestive system, a collection of organs that is made up of the gastrointestinal tract and the liver, pancreas, and gallbladder. The gastrointestinal tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus, including the mouth, esophagus, stomach, small intestine, large intestine and anus. is_a: HP:0000118 ! Phenotypic abnormality property_value: http://purl.org/dc/elements/1.1/date 2016-08-27T13:44:32Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025032 name: Abnormality of digestive system physiology def: "A functional anomaly of the digestive system." [] is_a: HP:0025031 ! Abnormality of the digestive system property_value: http://purl.org/dc/elements/1.1/date 2016-08-27T13:58:05Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025033 name: Abnormality of digestive system morphology def: "A structural anomaly of the digestive system." [] is_a: HP:0025031 ! Abnormality of the digestive system property_value: http://purl.org/dc/elements/1.1/date 2016-08-27T13:58:23Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025034 name: Abnormal morphology of erythroid progenitor cell def: "Abnormal form of the progenitor cells committed to the erythroid lineage." [] is_a: HP:0012130 ! Abnormal erythroid lineage cell morphology property_value: http://purl.org/dc/elements/1.1/date 2016-09-02T11:14:05Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025035 name: Abnormal proerythroblast morphology def: "Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers." [] is_a: HP:0012130 ! Abnormal erythroid lineage cell morphology property_value: http://purl.org/dc/elements/1.1/date 2016-09-02T11:16:54Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025037 name: Hypothalamic gliosis def: "Focal proliferation of glial cells in the hypothalamus." [HPO:probinson, PMID:26530930] is_a: HP:0002171 ! Gliosis property_value: http://purl.org/dc/elements/1.1/date 2016-09-20T10:59:06Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025038 name: Intratesticular abscess def: "A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins." [PMID:11598263] synonym: "Testicular abscess" EXACT [] is_a: HP:0000035 ! Abnormal testis morphology is_a: HP:0025615 ! Abscess property_value: http://purl.org/dc/elements/1.1/date 2016-09-21T11:02:09Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025039 name: Basal ganglia edema def: "Swelling within the basal ganglia due to the accumulation of fluid." [] synonym: "Basal ganglia oedema" EXACT [] synonym: "Edema of the basal ganglia" EXACT [] synonym: "Oedema of the basal ganglia" EXACT [] is_a: HP:0002134 ! Abnormality of the basal ganglia property_value: http://purl.org/dc/elements/1.1/date 2016-09-25T14:00:54Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025040 name: Thalamic edema def: "Swelling within the thalamus due to the accumulation of fluid." [] synonym: "Edema of the thalamus" EXACT [] synonym: "Oedema of the thalamus" EXACT [] synonym: "Thalamic oedema" EXACT [] is_a: HP:0010663 ! Abnormality of thalamus morphology property_value: http://purl.org/dc/elements/1.1/date 2016-09-25T14:11:37Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025041 name: Thalamic calcification def: "Calcium deposition in the thalamus." [] is_a: HP:0010663 ! Abnormality of thalamus morphology property_value: http://purl.org/dc/elements/1.1/date 2016-09-25T14:15:01Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025042 name: Abnormality of mesenteric lymph nodes def: "A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery." [] is_a: HP:0002733 ! Abnormality of the lymph nodes property_value: http://purl.org/dc/elements/1.1/date 2016-09-25T14:21:49Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025043 name: Enlarged mesenteric lymph node def: "Increase in size of one or more mesenteric lymph nodes." [] comment: Mesenteric lymph nodes measured by CT as being larger than 10 mm are considered enlarged. is_a: HP:0025042 ! Abnormality of mesenteric lymph nodes property_value: http://purl.org/dc/elements/1.1/date 2016-09-25T14:26:25Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025044 name: Lung abscess def: "A circumscribed area of pus or necrotic debris in lung parenchyma, which leads to a cavity, and after formation of bronchopulmonary fistula, can manifest as an air-fluid level inside the cavity." [PMID:26366400] is_a: HP:0002088 ! Abnormal lung morphology is_a: HP:0025615 ! Abscess property_value: http://purl.org/dc/elements/1.1/date 2016-09-25T14:30:50Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025045 name: Abnormal brain lactate level by MRS def: "A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS)." [] synonym: "Abnormal lactate level by magnetic resonance spectroscopy" EXACT [] is_a: HP:0012705 ! Abnormal metabolic brain imaging by MRS property_value: http://purl.org/dc/elements/1.1/date 2016-09-25T16:43:58Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025046 name: Reduced brain lactate level by MRS def: "A decrease in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS)." [] synonym: "Reduced brain lactate level by magnetic resonance spectroscopy" EXACT [] is_a: HP:0025045 ! Abnormal brain lactate level by MRS property_value: http://purl.org/dc/elements/1.1/date 2016-09-25T16:45:22Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025047 name: Abnormal brain choline level by MRS def: "A deviation from normal in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS)." [] synonym: "Abnormal brain choline level by magnetic resonance spectroscopy" EXACT [] is_a: HP:0012705 ! Abnormal metabolic brain imaging by MRS property_value: http://purl.org/dc/elements/1.1/date 2016-09-25T16:48:23Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025048 name: Reduced brain choline level by MRS def: "An decrease in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS)." [] synonym: "Reduced brain choline level by magnetic resonance spectroscopy" EXACT [] is_a: HP:0025047 ! Abnormal brain choline level by MRS property_value: http://purl.org/dc/elements/1.1/date 2016-09-25T16:49:14Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025049 name: Abnormal brain creatine level by MRS comment: A deviation from normal in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS). synonym: "Abnormal brain creatine level by magnetic resonance spectroscopy" EXACT [] is_a: HP:0012705 ! Abnormal metabolic brain imaging by MRS property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T08:45:22Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025050 name: Elevated brain creatine level by MRS def: "An increase in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS)." [] synonym: "Elevated brain creatine level by magnetic resonance spectroscopy" EXACT [] is_a: HP:0025049 ! Abnormal brain creatine level by MRS property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T08:46:45Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025051 name: Reduced brain creatine level by MRS def: "A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS)." [] synonym: "Reduced brain creatine level by magnetic resonance spectroscopy" EXACT [] is_a: HP:0025049 ! Abnormal brain creatine level by MRS property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T08:48:05Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025052 name: Abnormal brain N-acetyl aspartate level by MRS def: "A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS)." [] synonym: "Abnormal brain N-acetyl aspartate level by magnetic resonance spectroscopy" EXACT [] is_a: HP:0012705 ! Abnormal metabolic brain imaging by MRS property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T08:50:52Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025053 name: Elevated brain N-acetyl aspartate level by MRS def: "An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS)." [] synonym: "Elevated brain N-acetyl aspartate level by magnetic resonance spectroscopy" EXACT [] is_a: HP:0025052 ! Abnormal brain N-acetyl aspartate level by MRS property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T08:52:49Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025057 name: Abnormality of olfactory lobe morphology def: "A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell." [] is_a: HP:0100547 ! Abnormality of forebrain morphology property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T09:03:16Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025058 name: Hypothalamic atrophy synonym: "Atrophy of the hypothalamus" EXACT [] synonym: "Partial or complete wasting (loss) of hypothalamus tissue that was once present." EXACT [] is_a: HP:0012286 ! Abnormal hypothalamus morphology property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T09:07:40Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025059 name: Splenic abscess def: "A circumscribed area of pus or necrotic debris in the parenchyma of the spleen." [PMID:21319348] comment: Splenic abscesses generally occur in patients with neoplasia, immunodeficiency, trauma, metastatic infection, splenic infarct or diabetes. is_a: HP:0025408 ! Abnormal spleen morphology property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T09:11:25Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025060 name: Multifocal splenic abscess def: "Multiple abscess lesions in the spleen." [] synonym: "Multilocular splenic abscess" EXACT [] is_a: HP:0025059 ! Splenic abscess property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T09:19:25Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025061 name: Unifocal splenic abscess def: "Single (solitary) abscess in the spleen." [] synonym: "Solitary splenic abscess" EXACT [] synonym: "Unilocular splenic abscess" EXACT [] is_a: HP:0025059 ! Splenic abscess property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T09:21:20Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025062 name: Geophagia def: "The practice of eating earth or soil-like substrates such as clay or chalk." [PMID:23816735] synonym: "Geophagy" EXACT [] is_a: HP:0011856 ! Pica property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T09:47:56Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025063 name: Scaphoid abdomen def: "The anterior abdominal wall is sunken and presents a concave rather than a convex contour." [] comment: Scaphoid abdomen can be observed in diseases such as congenital diaphragmatic hernia (since the abdominal contents can be in the thorax). is_a: HP:0011458 ! Abdominal symptom property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T09:54:43Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025064 name: Thalamic hemorrhage def: "Bleeding in the thalamus." [] comment: Thalamic hemorrhage may be observed in individuals with hypertension. In both the acute and chronic phases of bleeding, prominent susceptibility effect, seen as hypointense blooming on sequences, is typically seen upon magnetic resonance imaging. synonym: "Thalamic haemorrhage" EXACT [] is_a: HP:0010663 ! Abnormality of thalamus morphology property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T10:03:34Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025065 name: Abnormal mean corpuscular volume def: "A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters." [] synonym: "Abnormal erythrocyte volume" EXACT [] synonym: "Abnormal MCV" EXACT HP:0045077 [] is_a: HP:0001877 ! Abnormal erythrocyte morphology property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T10:08:33Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025066 name: Decreased mean corpuscular volume def: "A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters)." [] synonym: "Decreased MCV" EXACT HP:0045077 [] synonym: "Microcytosis" EXACT [] synonym: "Reduced erythrocyte volume" EXACT [] is_a: HP:0025065 ! Abnormal mean corpuscular volume property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T10:10:48Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025068 name: Incomitant strabismus def: "Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort." [ORCID:0000-0003-0986-4123] is_a: HP:0000486 ! Strabismus property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T10:25:28Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025069 name: Concomitant strabismus def: "Strabismus in which the angle of deviation of the squiting eye remains the same in relation to the other eye, in all directions of gaze, and whichever eye is fixing." [] synonym: "Comitant strabismus" EXACT [] is_a: HP:0000486 ! Strabismus property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T10:29:59Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025070 name: Abnormal U wave def: "An anomaly of the U wave of the electrocardiogram (EKG). The U wave is a small (0.5 mm) deflection immediately following the T wave, usually in the same direction as the T wave. It is best seen in leads V2 and V3." [PMID:22665396] comment: U waves represent prolonged repolarisation of myocardial M cells. Under normal conditions the M cells are electrically coupled to adjacent cell layers. However, in conditions that produce electrical uncoupling, these M cells have significant effects on repolarisation producing prolonged rounded ST-T waves or U waves. The finding of U wave inversion on an ECG at rest or baseline is a non-specific finding. It is significant when observed post exercise, being originally described in early 1940s. Subsequent studies in the late 1970s, demonstrated a significant correlation of U wave inversion with either left main or LAD disease. is_a: HP:0003115 ! Abnormal EKG property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T10:36:56Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025071 name: U wave inversion def: "Direction of the U wave opposite to the T wave (i.e., below baseline) in leads with upright T waves." [] comment: Inverted U wave may be a sign of coronary artery disease, hypertension, valvular heart disease, congenital heart disease, cardiomyopathy, or hyperthyroidism. In individuals with acute chest pain, it may be a sign of myocardial ischemia. is_a: HP:0025070 ! Abnormal U wave property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T10:39:43Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025072 name: Prominent U wave def: "Increased amplitude of the U wave, defined as an amplitude grerater than 1-2mm or 25 percent of the height of the T wave." [] synonym: "Increased U wave amplitude" EXACT [] is_a: HP:0025070 ! Abnormal U wave property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T10:42:48Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025073 name: Exercise-induced U wave inversion def: "U wave inversion that is induced by exercise stress testing." [PMID:22665396] is_a: HP:0025071 ! U wave inversion property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T10:44:21Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025074 name: Abnormal QRS complex def: "An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram." [] is_a: HP:0003115 ! Abnormal EKG property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T10:46:17Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025075 name: Increased QRS voltage def: "Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm)." [] is_a: HP:0025076 ! Abnormal QRS voltage property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T10:48:06Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025076 name: Abnormal QRS voltage def: "Abnormal amplitude of the QRS complex of the electrocardiogram (EKG)." [] is_a: HP:0025074 ! Abnormal QRS complex property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T10:50:26Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025077 name: Decreased QRS voltage def: "Reduced amplitude (height) of the QRS complex of the electrocardiogram (EKG), defined as amplitudes of all the QRS complexes in the limb leads are less than 5 mm or amplitudes of all the QRS complexes in the precordial leads less than 10 mm." [] is_a: HP:0025076 ! Abnormal QRS voltage property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T10:50:45Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025078 name: Electrical alternans def: "The QRS complexes of the electrocardiogram alternate in height." [PMID:8222799] is_a: HP:0025076 ! Abnormal QRS voltage property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T10:52:41Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025079 name: Pancreatic abscess def: "A circumscribed area of pus or necrotic debris in the parenchyma of the pancreas." [] synonym: "Pancreas abscess" EXACT [] is_a: HP:0012090 ! Abnormal pancreas morphology is_a: HP:0025615 ! Abscess property_value: http://purl.org/dc/elements/1.1/date 2016-09-26T11:01:28Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025080 name: Orthokeratotic hyperkeratosis def: "A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei." [] comment: Hyperkeratosis is most commonly orthokeratotic. is_a: HP:0000962 ! Hyperkeratosis property_value: http://purl.org/dc/elements/1.1/date 2016-10-12T23:40:17Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025081 name: Darier's sign def: "A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP." [PMID:24701633] is_a: HP:0001025 ! Urticaria property_value: http://purl.org/dc/elements/1.1/date 2016-10-12T23:46:34Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025082 name: Abnormal cutaneous elastic fiber morphology def: "Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils." [PMID:12082143, PMID:21738362] comment: Elastic fibers help the skin return to its normal configuration after being stretched or deformed. The elastic fibers consist of two components: microfibrils and matrix elastin. The microfibrillar component amounts to only 15% of the elastic fiber, whereas the amorphous, electron-lucid elastin makes up 85% of the fiber. In light microscope sections that are routinely stained, elastic fibers are inconspicuous. With special elastic tissue stains, such as orcein or resorcin-fuchisin, or in plastic-embedded sections they are found entwined among the collagen bundles [PMID:21738362]. is_a: HP:0011121 ! Abnormality of skin morphology property_value: http://purl.org/dc/elements/1.1/date 2016-10-15T12:16:20Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025083 name: Elevated dermal desmosine content def: "An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin." [PMID:2307214] comment: Disorders of elastosis may show an increased content of desmosines, whereas elastolytic disordersmay show a reduced content of desmosine. is_a: HP:0011121 ! Abnormality of skin morphology property_value: http://purl.org/dc/elements/1.1/date 2016-10-15T13:13:02Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025084 name: Folliculitis def: "Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule." [] comment: In contrast to folliculitis, perifolliculitis refers to inflammatory cells, usually lymphocytes, within the perifollicular tissues with focal extension into the adjacent reticular dermis. Folliculitis and perifolliculitis can occur independently or incombination owing to follicular disruption and irritation. synonym: "Follicular pustule" EXACT [] is_a: HP:0011123 ! Inflammatory abnormality of the skin property_value: http://purl.org/dc/elements/1.1/date 2016-10-15T13:35:26Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025085 name: Bloody diarrhea def: "Passage of many stools containing blood." [] comment: Diarrhea that contains bright red or maroon-colored blood may be referred to as hematochezia, while melena is used to describe black, tarry, and smelly diarrhea. synonym: "Blood in stool" BROAD layperson [] synonym: "Bloody bowel movement" EXACT layperson [] synonym: "Bloody diarrhea" EXACT layperson [] synonym: "Bloody diarrhoea" EXACT layperson [] synonym: "Bloody stool" BROAD layperson [] is_a: HP:0002014 ! Diarrhea property_value: http://purl.org/dc/elements/1.1/date 2016-10-15T13:58:14Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025086 name: Bloody mucoid diarrhea def: "Passage of many stools containing blood and mucus." [] synonym: "Bloody mucoid diarrhoea" EXACT [] is_a: HP:0025085 ! Bloody diarrhea property_value: http://purl.org/dc/elements/1.1/date 2016-10-15T13:59:04Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025087 name: Delayed recoil upon stretching of skin def: "Area of skin requiring an increased amount of time to return to its original shape after being stretched." [] comment: see PMID:23919031 is_a: HP:0008067 ! Abnormally lax or hyperextensible skin property_value: http://purl.org/dc/elements/1.1/date 2016-10-15T14:50:00Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025088 name: Onychomadesis def: "Complete shedding (separation) of the nail from the proximal matrix. Onychomadesis is the proximal separation of the nail plate from the nail matrix due to a temporary cessation of nail growth." [PMID:24882996, PMID:25473242, PMID:28207011] comment: Onychomadesis is defined as proximal nail plate separation from the nail matrix and nail bed caused by a temporary arrest in nail matrix activity, and may present as a Beau's line. is_a: HP:0001806 ! Onycholysis property_value: http://purl.org/dc/elements/1.1/date 2016-10-24T00:35:53Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025089 name: Feculent vomiting def: "Vomiting of material that is of fecal origin." [] comment: Feculent vomiting is usually due to mechanical intestinal obstruction but it can be due to paralytic obstruction (adynamic ileus). synonym: "Fecal vomiting" EXACT [] synonym: "Stercoraceous vomiting" EXACT [] is_a: HP:0002013 ! Vomiting property_value: http://purl.org/dc/elements/1.1/date 2016-10-24T00:38:50Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025090 name: Abnormal large intestinal mucosa morphology def: "A structural anomaly of the mucous lining of the large intestine." [] is_a: HP:0002250 ! Abnormal large intestine morphology property_value: http://purl.org/dc/elements/1.1/date 2016-10-24T00:55:54Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025092 name: Epidermal acanthosis def: "Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin)." [] comment: Note that we use the prefered label 'Epidermal acanthocytosis' to distinguish this term from acanthocytosis of red blood cells. synonym: "Acanthosis" EXACT [] synonym: "Acanthotic epidermis" EXACT [] synonym: "Thickening of upper layer of skin" EXACT layperson [https://orcid.org/0000-0002-6548-5200] is_a: HP:0011124 ! Abnormality of epidermal morphology property_value: http://purl.org/dc/elements/1.1/date 2016-10-24T01:14:11Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025093 name: Peripapillary exudate def: "A retinal exudate in the area surrounding the optic nerve head." [] synonym: "Peripapillary exudation" EXACT [] is_a: HP:0001147 ! Retinal exudate property_value: http://purl.org/dc/elements/1.1/date 2016-10-24T01:19:32Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025094 name: Disciform macular scar def: "A subretinal scar with a disc-like shape in the region of the macula." [] is_a: HP:0200056 ! Macular scar property_value: http://purl.org/dc/elements/1.1/date 2016-10-24T01:29:42Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025095 name: Sneeze def: "A sudden violent, spasmodic, audible expiration of breath through the nose and mouth." [] is_a: HP:0002795 ! Functional respiratory abnormality property_value: http://purl.org/dc/elements/1.1/date 2016-10-24T01:36:17Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025096 name: Paroxysmal sneezing def: "Unprovoked explosive pathological sneezing." [PMID:17388999] is_a: HP:0025095 ! Sneeze property_value: http://purl.org/dc/elements/1.1/date 2016-10-24T01:37:09Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025097 name: Eyelid myoclonus def: "Marked, involuntary jerking of the eyelids." [] comment: Some literature refers to eyelid myoclonia as a disease entity (Jeavons syndrome) that is characterized by episodes of eyelid myoclonus with absences. synonym: "Blepharoclonus" EXACT [] synonym: "Eyelid myoclonia" RELATED [] is_a: HP:0001336 ! Myoclonus property_value: http://purl.org/dc/elements/1.1/date 2016-10-28T05:55:32Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025098 name: Dysgenesis of the hypothalamus def: "Structural abnormality of the hypothalamus related to defective development." [] comment: Note that the term hypothalamic dysgenesis is generally used to refer to a morphological abnormality of the hypothalamus that is of presumed developmental (rather than acquired) origin. synonym: "Hypothalamic dysgenesis" EXACT [] is_a: HP:0012286 ! Abnormal hypothalamus morphology property_value: http://purl.org/dc/elements/1.1/date 2016-10-28T06:41:35Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025099 name: Dysgenesis of the thalamus def: "Structural abnormality of the thalamus related to defective development." [] comment: Note that the term thalamic dysgenesis is generally used to refer to a morphological abnormality of the thalamus that is of presumed developmental (rather than acquired) origin. synonym: "Thalamic dysgenesis" EXACT [] is_a: HP:0010663 ! Abnormality of thalamus morphology property_value: http://purl.org/dc/elements/1.1/date 2016-10-28T06:51:03Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025100 name: Abnormal morphology of the hippocampus def: "Any structural anomaly of the hippocampus," [] comment: The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum. synonym: "Abnormality of hippocampus morphology" EXACT [] is_a: HP:0007343 ! Abnormal morphology of the limbic system property_value: http://purl.org/dc/elements/1.1/date 2016-10-28T07:12:41Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025101 name: Dysgenesis of the hippocampus def: "Structural abnormality of the hippocampus related to defective development." [] comment: Note that the term hippocampal dysgenesis is generally used to refer to a morphological abnormality of the hippocampus that is of presumed developmental (rather than acquired) origin. synonym: "Hippocampal dysgenesis" EXACT [] is_a: HP:0025100 ! Abnormal morphology of the hippocampus property_value: http://purl.org/dc/elements/1.1/date 2016-10-28T07:15:06Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025102 name: Dysgenesis of the basal ganglia def: "Structural abnormality of the basal ganglia related to defective development." [] comment: Note that the term basal ganglia dysgenesis is generally used to refer to a morphological abnormality of the basal ganglia that is of presumed developmental (rather than acquired) origin. synonym: "Basal ganglia dysgenesis" EXACT [] is_a: HP:0002134 ! Abnormality of the basal ganglia property_value: http://purl.org/dc/elements/1.1/date 2016-10-28T07:21:20Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025103 name: Umbilicated nodule def: "A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated)." [PMID:24050295] is_a: HP:0200036 ! Skin nodule property_value: http://purl.org/dc/elements/1.1/date 2016-10-28T07:30:43Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025104 name: Capillary malformation def: "A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a cpillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules)." [PMID:22483320, PMID:25864701] comment: There are many different classifications, and some authors treat the term capillary malformation as being synonymous with port wine stain (nevus flammeus). We refer to the detailed classification of Happle (PMID:25864701), which we do not completely follow. is_a: HP:0011355 ! Localized skin lesion property_value: http://purl.org/dc/elements/1.1/date 2016-10-28T23:39:18Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025105 name: Nevus anemicus def: "A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots/" [PMID:22483320, PMID:25864701] synonym: "Naevus anaemicus" EXACT [] is_a: HP:0025104 ! Capillary malformation property_value: http://purl.org/dc/elements/1.1/date 2016-10-28T23:49:41Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025106 name: Nevus roseus def: "A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life." [PMID:22483320, PMID:25864701] is_a: HP:0025104 ! Capillary malformation property_value: http://purl.org/dc/elements/1.1/date 2016-10-28T23:53:08Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025107 name: Cutis marmorata telangiectatica congenita def: "A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on the surface of the skin. In contrast to cutis marmorata, the marbling is more severe and always visible." [PMID:22483320, PMID:25864701] is_a: HP:0025104 ! Capillary malformation property_value: http://purl.org/dc/elements/1.1/date 2016-10-29T00:22:27Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025108 name: Angioma serpentinum def: "Angioma serpiginosum consists of punctate, tightly packed telangiectatic lesions. Characteristic histopathological features are dilated and tortuous capillaries involving the uppermost part of the dermis." [PMID:25864701] comment: Two different forms can be distinguished. Diffuse, non-segmental angioma serpiginosum occurs as a hereditary trait, and autosomal dominant transmission is presently\nassumed. is_a: HP:0025104 ! Capillary malformation property_value: http://purl.org/dc/elements/1.1/date 2016-10-29T00:31:03Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025109 name: Reduced red cell pyruvate kinase activity def: "Decrease in the activity of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate." [PMID:7949104] synonym: "Reduced erythrocyte pyruvate kinase activity" EXACT [] is_a: HP:0030272 ! Abnormal erythrocyte enzyme activity property_value: http://purl.org/dc/elements/1.1/date 2016-10-29T00:37:18Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025110 name: Placoid macular lesion def: "Yellow/white, sharply delineated lesion, typically of inflammatory nature, involving the macula." [] is_a: HP:0030500 ! Yellow/white lesions of the macula property_value: http://purl.org/dc/elements/1.1/date 2016-11-01T01:20:32Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025112 name: Sound sensitivity def: "Decreased tolerance to sound." [] comment: Sound sensitivity impliees a difficulty tolerating sounds which do not seem loud or unpleasant to others. synonym: "Noise sensitivity" EXACT [] is_a: HP:0000708 ! Behavioral abnormality property_value: http://purl.org/dc/elements/1.1/date 2016-11-01T01:30:30Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025113 name: Misophonia def: "An adverse response (dislike) to sound no matter what volume the sound is, characterized by a strong negative reaction to soft sounds that can sometimes be further triggered by seeing the source of the offending sound." [] is_a: HP:0025112 ! Sound sensitivity property_value: http://purl.org/dc/elements/1.1/date 2016-11-01T01:33:52Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025114 name: Hypergranulosis def: "Hypergranulosis is an increased thickness of the stratum granulosum." [] comment: Note that the epidermis includes five main layers: the stratum corneum, stratum lucidium, stratum granulosum, stratum spinosum, and stratum germinativum. This term refers to thickening that primarily affects the stratum granulosum. is_a: HP:0011368 ! Epidermal thickening property_value: http://purl.org/dc/elements/1.1/date 2016-11-01T01:48:14Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025115 name: Civatte bodies def: "Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant" [PMID:23919028] comment: The presence of numerous civatte bodies (CBs) in biopsies is a characteristic finding in skin lesions of patients with various dermatoses, particularly lichen planus (LP) and discoid lupus erythematosus (DLE). Achille Civatte (1877-1956) was a French dermatologist. synonym: "Colloid bodies" EXACT [] synonym: "Colloid bodies of Civatte" EXACT [] synonym: "Cytoid bodies" EXACT [] synonym: "Hyaline bodies" EXACT [] is_a: HP:0011124 ! Abnormality of epidermal morphology property_value: http://purl.org/dc/elements/1.1/date 2016-11-01T01:58:56Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025116 name: Fetal distress def: "An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile." [] comment: Fetal distress in itself is a non-specific term as the various parameters characterizing the type and degree of distress are themselves ill defined. Nonethless the term is in broad clinical use and thus is included as an HPO term. It is preferable to annotate with more precise terms if possible. is_a: HP:0001197 ! Abnormality of prenatal development or birth property_value: http://purl.org/dc/elements/1.1/date 2016-11-01T10:13:06Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025117 name: Rete ridge flattening def: "Rete pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance." [PMID:20548894] synonym: "Flattened rete pegs" EXACT [] synonym: "Flattened rete ridges" EXACT [] is_a: HP:0011124 ! Abnormality of epidermal morphology property_value: http://purl.org/dc/elements/1.1/date 2016-11-01T10:52:20Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025118 name: Lip discoloration def: "Lightening or darkening of the lips from their usual coloring." [] is_a: HP:0032453 ! Abnormal lip pigmentation property_value: http://purl.org/dc/elements/1.1/date 2016-11-01T11:25:02Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025119 name: Violet lip discoloration def: "An alteration of the color of the lip to take on a violet color. This term does not include cyanosis." [PMID:24346922] comment: This feature may be seen rarely as a paraneoplastic manifestation. is_a: HP:0025118 ! Lip discoloration property_value: http://purl.org/dc/elements/1.1/date 2016-11-01T11:25:57Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025121 name: Simple partial occipital seizures def: "A type of focal seizure (i.e., affecting initially only one hemisphere of the brain) that is simple (not resulting in alteration of consciousness) that originates in the occipital lobe. Visual hallucinations are the hallmark of occipital seizures, but are not invariably present. Hallucinations typically commence in the visual field contralateral to the affected visual cortex and then spread to involve the entire visual field. Elementary visual seizures are characterized by fleeting visual manifestations which may be either positive (flashes, phosphenes) or, less commonly, negative (scotoma, hemianopia, amaurosis). Positive phenomena are usually flashes of colour or light, which are simple in shape and may be static or mobile." [PMID:12615636] comment: The major differential diagnosis is migraine. In occipital seizures, stereotyped visual hallucinations manifest as multiple bright coloured balls or circles which multiply, change in size, move horizontally, may flash, and last for seconds. In migraine, visual symptoms manifest as black and white, flickering, linear, zigzag patterns in the central field, gradually expanding and lasting for minutes is_a: HP:0002349 ! Focal aware seizure property_value: http://purl.org/dc/elements/1.1/date 2016-11-10T11:43:51Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025122 name: Sawtooth acanthosis def: "A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis." [PMID:19061615] synonym: "Sawtoothed acanthosis" EXACT [] is_a: HP:0025092 ! Epidermal acanthosis property_value: http://purl.org/dc/elements/1.1/date 2016-11-14T01:39:51Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025123 name: White streaks/specks on enamel. def: "Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks." [] is_a: HP:0011073 ! Abnormality of dental color property_value: http://purl.org/dc/elements/1.1/date 2016-11-14T01:47:26Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025124 name: Fragile teeth def: "A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma." [] synonym: "Enamel with tendency to chip" EXACT [] synonym: "Spontaneous tooth fracture" EXACT [] is_a: HP:0000164 ! Abnormality of the dentition property_value: http://purl.org/dc/elements/1.1/date 2016-11-14T01:53:11Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025125 name: White lesion of the oral mucosa def: "White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps od surface ulcerations and collapsed bullae can appear white." [] is_a: HP:0011830 ! Abnormal oral mucosa morphology property_value: http://purl.org/dc/elements/1.1/date 2016-11-14T02:08:04Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025126 name: Oral hairy leukoplakia def: "A corrugated white lesion of the oral mucosa that usually occurs on the lateral or ventral surfaces of the tongue and may have a shaggy or frayed appearance." [] is_a: HP:0025125 ! White lesion of the oral mucosa property_value: http://purl.org/dc/elements/1.1/date 2016-11-14T02:15:28Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025127 name: Actinic keratosis def: "A scaly, crusty lesion caused by damage from the ultraviolet radiation of the sun, with typical location on sun-exposed areas of the skin. Actinic keratosis lesions are often elevated, rough, and wartlike, and may be red, or occasionally tan, pink, or flesh-toned in color." [] comment: Up to ten percent of untreated actinic keratoses develop into squamous cell carcinoma of the skin. synonym: "Solar keratosis" EXACT [] is_a: HP:0008069 ! Neoplasm of the skin property_value: http://purl.org/dc/elements/1.1/date 2016-11-14T02:23:13Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025128 name: Reduced intraabdominal adipose tissue def: "An abnormally reduced amount of adipose tissue in the abdominal cavity." [] is_a: HP:0040063 ! Decreased adipose tissue property_value: http://purl.org/dc/elements/1.1/date 2016-11-14T02:33:27Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025129 name: Abnormal small intestinal mucosa morphology def: "A structural anomaly of the mucous lining of the small intestine." [] is_a: HP:0002244 ! Abnormality of the small intestine property_value: http://purl.org/dc/elements/1.1/date 2016-11-15T11:57:47Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025130 name: Decreased small intestinal mucosa lactase activity def: "Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges." [] synonym: "Lactase deficiency" EXACT [] is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity is_a: HP:0025129 ! Abnormal small intestinal mucosa morphology property_value: http://purl.org/dc/elements/1.1/date 2016-11-15T12:01:54Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025131 name: Finger swelling def: "Enlargement of the soft tissues of one or more fingers." [PMID:16269085, PMID:19946526, PMID:24758199, PMID:9715244] synonym: "Swelling of fingers" EXACT HP:0045078 [] synonym: "Swollen finger" EXACT HP:0045078 [] synonym: "Swollen fingers" EXACT [] is_a: HP:0001167 ! Abnormality of finger property_value: http://purl.org/dc/elements/1.1/date 2016-11-15T12:08:31Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025132 name: Abnormal circulating estrogen level def: "A deviation from normal concentration of the hormone estrogen in the blood circulation." [] comment: Clinical estrogen tests measure one of three components: estrone (E1), estradiol (E2), or estriol (E3). synonym: "Abnormal circulating oestrogen level" EXACT [] synonym: "Abnormal estrogen level" EXACT [] is_a: HP:0003117 ! Abnormal circulating hormone level is_a: HP:0008373 ! Puberty and gonadal disorders property_value: http://purl.org/dc/elements/1.1/date 2016-11-27T13:46:29Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025133 name: Abnormal serum estradiol def: "A deviation from normal concentrations of estradiol in the circulation." [] comment: Estradiol is the most biologically prevalent and active compound of a class of steroids called estrogens is_a: HP:0025132 ! Abnormal circulating estrogen level property_value: http://purl.org/dc/elements/1.1/date 2016-11-27T13:52:20Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025134 name: Increased serum estradiol def: "An elevation above normal limits of the concentration of estradiol in the circulation." [] synonym: "Increased estradiol level" EXACT [] synonym: "Increased serum oestradiol" EXACT [] is_a: HP:0025133 ! Abnormal serum estradiol property_value: http://purl.org/dc/elements/1.1/date 2016-11-27T14:09:28Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025135 name: Abnormal serum estriol def: "A deviation from normal concentration of estriol in the circulation." [] is_a: HP:0025132 ! Abnormal circulating estrogen level property_value: http://purl.org/dc/elements/1.1/date 2016-11-27T14:10:45Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025136 name: Increased serum estriol def: "An elevation above normal limits of estriol concentration in the circulation." [] is_a: HP:0025135 ! Abnormal serum estriol property_value: http://purl.org/dc/elements/1.1/date 2016-11-27T14:13:00Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025137 name: Decreased serum estriol def: "A reduction below normal limits of estriol in the circulation." [] is_a: HP:0025135 ! Abnormal serum estriol property_value: http://purl.org/dc/elements/1.1/date 2016-11-27T14:13:33Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025138 name: Abnormal serum estrone def: "A deviation from the normal concentration of circulating estrone." [] is_a: HP:0025132 ! Abnormal circulating estrogen level property_value: http://purl.org/dc/elements/1.1/date 2016-11-27T14:14:35Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025139 name: Increased serum estrone def: "An elevation above normal limits of the concentration of estrone in the circulation." [] is_a: HP:0025138 ! Abnormal serum estrone property_value: http://purl.org/dc/elements/1.1/date 2016-11-27T14:15:18Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025140 name: Decreased serum estrone def: "A reduction below normal limits of the concentration of estrone in the circulation." [] is_a: HP:0025138 ! Abnormal serum estrone property_value: http://purl.org/dc/elements/1.1/date 2016-11-27T14:15:48Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025141 name: Gingival calcification def: "Ectopic deposition of calcium salts found in the gingiva." [PMID:25928877] synonym: "Gingival calcifications" EXACT [] is_a: HP:0000168 ! Abnormality of the gingiva is_a: HP:0010766 ! Ectopic calcification property_value: http://purl.org/dc/elements/1.1/date 2016-11-27T14:27:44Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025142 name: Constitutional symptom def: "A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual." [] comment: Note that we use the preferred term label constitutional symptom because this reflects common usage, but we do not restrict the term or its descendents to the narrow meaning of symptom, i.e., a complaint related by a patient to a physician. There is no generally accepted classification of what defines a constitutional symptom, but examples include weight loss, fatigue, general weakness, night sweats, shaking, chills, fever, and vomiting. is_a: HP:0000118 ! Phenotypic abnormality property_value: http://purl.org/dc/elements/1.1/date 2016-11-29T11:02:54Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025143 name: Chills def: "A sudden sensation of feeling cold." [] comment: The word chills can also refer to an episode of shivering, accompanied by paleness and feeling cold. synonym: "Chills" EXACT layperson [] is_a: HP:0025142 ! Constitutional symptom property_value: http://purl.org/dc/elements/1.1/date 2016-11-29T11:10:01Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025144 name: Shivering def: "Involuntary contraction or twitching of the muscles." [] comment: Shivering is a physiologic method of heat production in man and other mammals. Shivering is a bodily function in response to fever, early hypothermia or feeling cold. synonym: "Shivering" EXACT layperson [] synonym: "Shuddering" EXACT layperson [] is_a: HP:0025142 ! Constitutional symptom property_value: http://purl.org/dc/elements/1.1/date 2016-11-29T11:13:35Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025145 name: Rigors def: "Severe chills with violent shivering. A rigor is an episode of shaking or exaggerated shivering which can occur with a high fever." [] comment: A sudden attack of severe shivering accompanied by chills (a feeling of coldness) is called a rigor and may be associated with a marked rise in body temperature. Patients often describe rigors as an attack of uncontrollable shaking. Rigors are often a sign of infection, particularly bacterial infection. is_a: HP:0025143 ! Chills is_a: HP:0025144 ! Shivering property_value: http://purl.org/dc/elements/1.1/date 2016-11-29T11:15:45Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025146 name: Foveal degeneration def: "Deterioration of the tissue of the fovea, i.e.,the region of sharpest vision within the macula of the retina." [] is_a: HP:0000493 ! Abnormal foveal morphology is_a: HP:0000608 ! Macular degeneration property_value: http://purl.org/dc/elements/1.1/date 2016-11-29T11:24:05Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025147 name: Beaten bronze macular sheen def: "A shiny appearance of the macula, which is often called a beaten bronze appearance." [] comment: This feature may be seen in Stargardt disease. synonym: "Beaten metal macular appearance" EXACT [] synonym: "Beaten-bronze macular appearance" EXACT [] synonym: "Beaten-bronze macular sheen" EXACT [] is_a: HP:0008002 ! Abnormality of macular pigmentation property_value: http://purl.org/dc/elements/1.1/date 2016-11-29T11:37:39Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025148 name: Dark choroid def: "A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid)." [PMID:27739528, PMID:7248243] comment: The cause of dark choroid is thought to relate to the deposition of an abnormal material (lipofuscin) in the retinal pigment epithelial cells. is_a: HP:0000610 ! Abnormal choroid morphology property_value: http://purl.org/dc/elements/1.1/date 2016-11-29T11:49:16Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025149 name: Atrophic muscularis propria def: "Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis." [PMID:18329691] synonym: "Autonomic visceral myopathy" RELATED [] synonym: "Degenerative enteric myopathy" RELATED [] is_a: HP:0030935 ! Abnormality of intestinal smooth muscle morphology property_value: http://purl.org/dc/elements/1.1/date 2016-12-03T14:04:10Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025150 name: Hypoganglionosis def: "Sparse and small myenteric ganglia" [] comment: Enteric ganglia are the nerve cell clusters (groups of nerve cell bodies) that are involved in mediating the muscular activity of the intestines. is_a: HP:0004362 ! Abnormality of enteric ganglion morphology property_value: http://purl.org/dc/elements/1.1/date 2016-12-03T14:28:39Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025151 name: Ganglioneuromatosis def: "Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers." [PMID:26361414] is_a: HP:0004362 ! Abnormality of enteric ganglion morphology property_value: http://purl.org/dc/elements/1.1/date 2016-12-03T14:36:23Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025152 name: Poor visual behavior for age def: "Lack of visual responsiveness or decrease in visual capabilities suggesting a lack of visual responsiveness or decrease in visual capabilities in an infant or young child in which visual behavior fails to meet normal developmental milestones." [] comment: A failure to meet age-related milestones in areas such as (i) focusing ability, (ii) eye coordinationg and tracking of objects in the visual field, (iii) depth perception, (iv) color perception, and (v) object and face recognition. These milestones are generally met in the first three months of life, and failure to meet them may indicate abnormal visual development or function. synonym: "Abnormal visual behavior for age" EXACT [] synonym: "Abnormal visual behaviour for age" EXACT [] synonym: "Poor visual behaviour for age" EXACT [] is_a: HP:0000504 ! Abnormality of vision property_value: http://purl.org/dc/elements/1.1/date 2016-12-03T21:34:47Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025153 name: Transient def: "Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration." [] is_a: HP:0011008 ! Temporal pattern property_value: http://purl.org/dc/elements/1.1/date 2016-12-03T22:19:26Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025154 name: Portosystemic collateral veins def: "Presence of biliary veins that serve as a collateral channel to the systemic circulation" [] comment: Venous blood returning from the small intestine, stomach, pancreas and spleen converges into the portal vein. The terminal branches of the hepatic portal vein and hepatic artery empty together and mix as they enter sinusoids in the liver. Conditions such as liver cirrhosis, in which scar tissue partially blocks the normal flow of blood, may increases the pressure in the portal vein (portal hypertension).When blood flow through a vessel or a vascular bed is obstructed due to occlusion, collateral pathways open up as blood bypasses the occlusion or obstruction, and this can lead to portosystemic collateral veins in the case of cirrhosis and some other hepatobiliary diseases. synonym: "Collateral biliary circulation" EXACT [] synonym: "Collateral biliary veins" EXACT [] is_a: HP:0012440 ! Abnormal biliary tract morphology property_value: http://purl.org/dc/elements/1.1/date 2016-12-03T22:24:40Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025155 name: Abnormality of hepatobiliary system physiology def: "A functional anomaly of the hepatobiliary system" [] is_a: HP:0025032 ! Abnormality of digestive system physiology property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T12:05:04Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025156 name: Dependency on intravenous nutrition def: "Inability to be weaned from intravenous (parenteral) nutrition, as judged by the hydration status (urine output, blood urea nitrogen, creatinine, urine sodium concentration), ability to maintain weight, stool output, and serum electrolyte status." [PMID:16770168] comment: Total parenteral nutrition (TPN) refers to the application of an intravenous nutritional solution in individuals with gastrointestinal disorders that prevent them from absorbing a sufficient amount of nutrients from the gut to maintain health. The solution contains protein, carbohydrates (in the form of glucose), glucose, fat, vitamins, and minerals. Dependency on TPN is essentially a manifestation of the continued severity of a gastrointestinal disorder. synonym: "Dependency on IV nutrition" EXACT HP:0045077 [] is_a: HP:0025032 ! Abnormality of digestive system physiology property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T12:14:59Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025157 name: Increased urinary sedoheptulose def: "An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group." [] is_a: HP:0031979 ! Abnormal urine carbohydrate level property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T12:36:02Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025158 name: Hyperautofluorescent retinal lesion def: "Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging." [] is_a: HP:0030602 ! Abnormal fundus autofluorescence imaging property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T12:53:55Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025159 name: Hypoautofluorescent retinal lesion def: "Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging." [] synonym: "Hypo-autofluorescent retinal lesion" EXACT [] is_a: HP:0030602 ! Abnormal fundus autofluorescence imaging property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T12:54:44Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025160 name: Abnormal temper tantrums def: "A temper tantrum is an emotional outburst usually triggered by a sense of frustration and manifested as whining and crying, screaming, kicking, hitting, and breath holding. Temper tantrums are normal in toddlers and young children and usually happen between the ages of one to three years. Temper tantrums may be considered abnormal if they occur at an unusually high frequency, are of unusual severity, or occur at an old age than usual." [] is_a: HP:0000708 ! Behavioral abnormality property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T12:59:10Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025161 name: Frequent temper tantrums def: "Temper tantrums that occur more frequently than usual." [] is_a: HP:0025160 ! Abnormal temper tantrums property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T13:05:18Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025162 name: Severe temper tantrums def: "Temper tantrums whose severity is more severe than usual. For instance, a temper tantrum might be considered to be severe if a child loses control so completely that the child cannot control the tantrum on its own, continuing until it becomes exhausted or a parent intervenes." [] is_a: HP:0025160 ! Abnormal temper tantrums property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T13:05:46Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025163 name: Abnormality of optic chiasm morphology def: "A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves." [] is_a: HP:0000587 ! Abnormality of the optic nerve property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T13:12:19Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025164 name: Increased number of elastic fibers in the dermis def: "An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods." [PMID:25072684] is_a: HP:0025082 ! Abnormal cutaneous elastic fiber morphology property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T13:43:21Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025165 name: Clumping of elastic fibers in the dermis def: "Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis)." [PMID:25072684] is_a: HP:0025082 ! Abnormal cutaneous elastic fiber morphology property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T13:50:37Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025166 name: Thickened elastic fibers in the dermis def: "An increase of the diameter of elastic fibers in the dermis." [] is_a: HP:0025082 ! Abnormal cutaneous elastic fiber morphology property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T13:54:31Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025167 name: Fragmented elastic fibers in the dermis def: "Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers." [] is_a: HP:0025082 ! Abnormal cutaneous elastic fiber morphology property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T13:56:23Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025168 name: Left ventricular diastolic dysfunction def: "Abnormal function of the left ventricule during left ventricular relaxation and filling." [PMID:12527689, PMID:14594874] comment: Diastolic left ventricular disease can cause of limitation of exercise tolerance, whether or not ejection fraction is normal. This feature can be assessed by cardiac imaging. is_a: HP:0005162 ! Left ventricular dysfunction property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T14:01:20Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025169 name: Left ventricular systolic dysfunction def: "Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent." [] is_a: HP:0005162 ! Left ventricular dysfunction property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T14:07:53Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025170 name: Neuronal/glioneuronal neoplasm of the central nervous system def: "A central nervous system neoplasm with neuronal and, less consistently, glial differentiation." [] synonym: "Glioneuronal tumor" EXACT [] synonym: "Neuronal and mixed neuronal-glial tumor" EXACT [] synonym: "Neuronal/glioneuronal neoplasm of the CNS" EXACT HP:0045077 [] is_a: HP:0100006 ! Neoplasm of the central nervous system property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T14:30:29Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025171 name: Rosette-forming glioneuronal tumor def: "A tumor of the central nervous system that has components of both neurocytic and glial areas, whereby usually the glial component of the tumour predominates. Rossette-forming glioneuronal tumors (RGNT) have biphasic cytoarchitecture with two elements; neurocytic rosettes resembling Homer-Wright rosettes, and astrocytic component resembling a pilocytic astrocytoma. RGNTs are low-grade tumors that lack histopathological signs of malignancy." [PMID:27179225] synonym: "Rosette-forming glioneuronal neoplasm" EXACT [] synonym: "Rosette-forming glioneuronal tumor of the fourth ventricle" RELATED [] synonym: "Rosette-forming glioneuronal tumour" EXACT [] is_a: HP:0025170 ! Neuronal/glioneuronal neoplasm of the central nervous system property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T14:35:51Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025172 name: Smooth septal thickening on pulmonary HRCT def: "Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a smooth appearance of the interlobular septa." [] is_a: HP:0030879 ! Interlobular septal thickening on pulmonary HRCT property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T19:28:49Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025173 name: Nodular septal thickening on pulmonary HRCT def: "Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a nodular or beaded appearance of the interlobular septa." [] is_a: HP:0030879 ! Interlobular septal thickening on pulmonary HRCT property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T19:30:08Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025174 name: Irregular septal thickening on pulmonary HRCT def: "Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with an irregular appearance of the interlobular septa. THis feature is often associated with distortion of lung architecture." [] is_a: HP:0030879 ! Interlobular septal thickening on pulmonary HRCT property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T19:31:03Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025175 name: Honeycomb lung def: "Extensive interstitial fibrosis with alveolar disruption and bronchiolectasis." [] comment: Pathologically, honeycombing is manifested as small air-containing cystic spaces that are lined by bronchiolar epithelium and have thickened walls of dense fibrous tissue. On high-resolution CT, honeycombing presents with a characteristic cystic appearance. The cystic spaces range from 3 mm to 1 cm in diameter, although they can be larger. The cystic spaces are characterized by well delineated walls 1 to 3 mm in thickness. The cysts are air-filled and appear lucent in comparison to normal lung parenchyma. Honeycombing is a manifestation of end-stage lung fibrosis. is_a: HP:0005948 ! Multiple pulmonary cysts is_a: HP:0006530 ! Interstitial pulmonary abnormality property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T19:34:18Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025176 name: Intralobular interstitial thickening def: "A fine reticular pattern on high-resolution computeed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance." [] is_a: HP:0006530 ! Interstitial pulmonary abnormality property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T19:39:14Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025177 name: Peribronchovascular interstitial thickening def: "Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography." [] is_a: HP:0006530 ! Interstitial pulmonary abnormality property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T19:41:52Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025178 name: Subpleural interstitial thickening def: "Increase in thickness of the subpleural interstitium." [] comment: Subpleural interstitial thickening can be difficult to recognize where the lung contacts the chest wall or mediastinum but is easy to delineate adjacent to the major fissure. Thickening of the fissure visible on high-resolution computer tomography may represent subpleural interstitial thickening. is_a: HP:0031630 ! Abnormal subpleural morphology property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T19:44:43Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025179 name: Ground-glass opacification on pulmonary HRCT def: "A descriptive term that is applied to computer tomography imaging and that refers to a hazy area of increased attenuation in the lung with preserved bronchial and vascular markings." [PMID:23247773] comment: Ground-glass opacification is a non-specific sign and can be observed with many conditions including infection, chronic interstitial disease and acute alveolar disease. is_a: HP:0025389 ! Pulmonary interstitial high-resolution computed tomography abnormality is_a: HP:0031457 ! Pulmonary opacity property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T19:55:32Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025180 name: Centrilobular ground-glass opacification on pulmonary HRCT def: "A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules." [] synonym: "Centrilobular groundglass opacification" EXACT [] synonym: "Centrilobular groundglass opacity" EXACT [] is_a: HP:0025179 ! Ground-glass opacification on pulmonary HRCT property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T19:57:32Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025181 name: Abdominal aseptic abscess def: "An abscess-like lesion located within the abdomen. The lesions are localized in the spleen, liver, abdominal lymph nodes. The lesions represent visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly when treated with corticosteroids, but relapses occur frequently." [PMID:22526827] is_a: HP:0001438 ! Abnormality of abdomen morphology property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T20:11:28Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025182 name: Localized area of pendulous skin def: "A confined region of lax skin that hangs below the level of the surrounding skin. Histopatholigically, there is a loss of elastic fibers in the dermis of the affected region." [] is_a: HP:0008067 ! Abnormally lax or hyperextensible skin property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T21:29:56Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025186 name: Marcus Gunn jaw winking synkinesis def: "Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing." [PMID:23345532, PMID:25754805] synonym: "Marcus Gunn jaw-winking syndrome" EXACT [] synonym: "Pterygoid-levator synkinesis" EXACT [] synonym: "Trigemino-oculomotor synkinesis" EXACT [] is_a: HP:0000496 ! Abnormality of eye movement property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T22:17:24Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025188 name: Retinal vasculitis def: "Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion." [] comment: This term refers to the appearance of the retinal vessels on fundoscopy or other investigations. Retinal vasculitis may be associated with other manifestations such as visual impairment. is_a: HP:0008046 ! Abnormal retinal vascular morphology property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T22:37:03Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025190 name: Generalized tonic-clonic seizures without focal onset def: "A type of generalized tonic-clonic seizure that occurs in and rapidly engages bilaterally distributed networks." [] synonym: "Generalised tonic-clonic seizures without focal onset" EXACT [] synonym: "Primarily generalised tonic-clonic seizures" EXACT [] synonym: "Primarily generalized tonic-clonic seizures" EXACT [] synonym: "Primary generalised tonic-clonic seizures" EXACT [] synonym: "Primary generalized tonic-clonic seizures" EXACT [] is_a: HP:0002069 ! Generalized tonic-clonic seizures property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T22:50:21Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025191 name: Segmental myoclonic seizures is_a: HP:0011166 ! Focal myoclonic seizures property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T23:02:24Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025192 name: Subtentorial periventricular white matter hyperdensity def: "Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the fourth cerebral ventricle (which is located beneath the tentorium of the cerebellum)." [] is_a: HP:0030891 ! Periventricular white matter hyperdensities property_value: http://purl.org/dc/elements/1.1/date 2016-12-04T23:09:22Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025193 name: Posterolateral diaphragmatic hernia def: "A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity." [] synonym: "Bochdalek hernia" EXACT [] is_a: HP:0000776 ! Congenital diaphragmatic hernia property_value: http://purl.org/dc/elements/1.1/date 2016-12-05T01:51:30Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025194 name: Morgagni diaphragmatic hernia def: "An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity." [] comment: Morgagni hernias are generally accompanied by a hernia sac, and often do not cause symptoms in the newborn period. synonym: "Morgagni hernia" EXACT [] is_a: HP:0000776 ! Congenital diaphragmatic hernia property_value: http://purl.org/dc/elements/1.1/date 2016-12-05T01:55:27Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025195 name: Central diaphragmatic hernia def: "A congenital diaphragm defect involving the central tendinous (e.g., amuscular) portion of the diaphragm, whereby the entire rim of diaphragmatic musculature is present." [] synonym: "Central hernia" EXACT [] is_a: HP:0000776 ! Congenital diaphragmatic hernia property_value: http://purl.org/dc/elements/1.1/date 2016-12-05T01:57:20Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025196 name: Increased total iron binding capacity def: "An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity." [PMID:3542299] comment: Iron is transported to body tissues by a protein, transferrin, in plasma. This protein has two high-affinity binding sites for iron. Determination of total iron-binding capacity (TIBC) of the plasma therefore gives a measure of transferrin, although it can also be directly determined. Virtually all plasma iron (P1) normally is bound to transferrin, and measurement of P1 is assumed to reflect the amount of transferrin iron. The expression transferrin saturation, expressed as percent [(P1/TIBC) x 100], indicates the availability of iron to tissues. As transferrin saturation increases, there is an increase in the amount of diferric transferrin, which has a greater capacity to deliver iron than does monoferric transferrin. Measurements of P1, TIBC, and transferrin saturation have served several purposes in clinical medicine. The P1 concentration and (particularly) transferrin saturation relect the adequacy of iron supply. A saturation of less than 16% indicates a deficient iron supply, whereas a saturation of over 60% as measured on more than one occasion represents excessive iron loading owing to increased iron absorption or liver disease. An increased transferrmn concentration as reflected in the TIBC indicates iron depletion if the effects of estrogen and pregnancyare excluded. Other characteristic changes inboth P1 and TIBC are useful in the differential diagnosis of various diseases, for example, the decrease in transferrin saturations associated with a decreased transferrin concentration in inflammatory states. is_a: HP:0011031 ! Abnormality of iron homeostasis property_value: http://purl.org/dc/elements/1.1/date 2016-12-05T02:10:17Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025197 name: Inclusion body fibromatosis def: "A benign tumor made up of mostly myofibroblasts that appears almost exclusively on the digits of the hands and feet, rarely involving the thumb or big toe. The lesion displays a proliferation of bland intradermal spindle cells arranged in whorls, fascicles, or a storiform pattern in a collagenous background of varying degrees. Also usually present are perpendicular tumor cell fascicles that extend to the epidermis. The small intracytoplasmic inclusions are said to appear similar to red blood cells. The inclusion bodies have been shown to be made up of densely packed vimentin and actin filaments. The tumor often causes a dome-shaped elevation of the overlying structures, forming a protuberant or polypoid nodule. The overlying epidermis can display a host of changes, including acanthosis, hyperkeratosis, parakeratosis, rete ridge flattening, entrapment of adnexal structures, and, rarely, ulceration." [NCIT:C3456, PMID:27684985] synonym: "Digital fibrous tumor of Reye" EXACT [] synonym: "Infantile digital fibroma" EXACT [] synonym: "Infantile digital fibromatosis" EXACT [] is_a: HP:0012316 ! Fibrous tissue neoplasm property_value: http://purl.org/dc/elements/1.1/date 2016-12-05T11:28:28Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025198 name: Inflammatory cap polyp def: "A non-malignant sessile or pedunculated polyp in the colon and rectum that displays a cap of inflammatory granulation tissue with fibrinopurulent exudate that covers the polyp." [] comment: The condition inflammatory cap polyposis is characterized by the presence of multiple inflammatory cap polyps in the large intestine. is_a: HP:0005266 ! Intestinal polyp property_value: http://purl.org/dc/elements/1.1/date 2016-12-05T11:49:57Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025200 name: Muscle fiber actin filament accumulation synonym: "Accumulation in muscle cells of filaments composed of actin." EXACT [] is_a: HP:0100299 ! Muscle fiber inclusion bodies property_value: http://purl.org/dc/elements/1.1/date 2016-12-06T03:05:47Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025201 name: Abnormal apolipoprotein level def: "A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation." [] is_a: HP:0010876 ! Abnormal circulating protein level property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T12:53:01Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025202 name: Elevated apolipoprotein A-IV level def: "An increased concentration in blood of apolipoprotein A-IV, a major component of HDL and chylomicrons that has a role in VLDL secretion and catabolism and is required for efficient activation of lipoprotein lipase by ApoC-II." [] is_a: HP:0025201 ! Abnormal apolipoprotein level property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T12:56:05Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025203 name: Caput medusae def: "Distended and engorged umbilical veins which are seen radiating from the umbilicus across the abdomen to join systemic veins." [PMID:26112857] comment: Caput medusae is a sign of severe portal hypertension with portal-systemic shunting through the umbilical veins. The name refers to Medusa's hair once Minerva had turned it into snakes. Caput Medusae can be distinguished from inferior vena cava obstruction by determining the direction of flow in the veins below the umbilicus; it is towards the legs in caput medusae, and towards the head with inferior vena cava obstruction. synonym: "Palm tree sign" EXACT [] is_a: HP:0030168 ! Dilated superficial abdominal veins property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T13:11:24Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025204 name: Triggered by def: "A trigger is defined as an external factor that leads to the manifestation of a sign or symptom in a person with a susceptibility to developing that manifestation." [] is_a: HP:0012823 ! Clinical modifier property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T13:33:36Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025205 name: Triggered by breast feeding def: "Applies to a sign or symptom that is provoked or brought about by breast feeding in an infant." [] synonym: "Breastfeeding triggered symptoms" EXACT [] synonym: "Triggered by breastfeeding" EXACT layperson [] is_a: HP:0025204 ! Triggered by property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T13:41:09Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025206 name: Triggered by cold def: "Applies to a sign or symptom that is provoked or brought about by exposure to cold surroundings." [] synonym: "Cold triggered symptoms" EXACT [] synonym: "Triggered by cold temperature" EXACT layperson [] is_a: HP:0025204 ! Triggered by property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T13:44:40Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025207 name: Triggered by dehydration def: "Applies to a sign or symptom that is provoked or brought about by being dehydrated, i.e., by a deficit in total body water." [] synonym: "Dehydration triggered symptoms" EXACT [] synonym: "Triggered by dehydration" EXACT layperson [] is_a: HP:0025204 ! Triggered by property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T13:45:29Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025208 name: Triggered by carbohydrate ingestion def: "Applies to a sign or symptom that is provoked or brought about by eating or drinking carbohydrates." [] synonym: "Carbohydrate ingestion triggered symptoms" EXACT [] synonym: "Triggered by carbohydrate ingestion" EXACT layperson [] is_a: HP:0025204 ! Triggered by property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T13:46:32Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025209 name: Triggered by fructose ingestion def: "Applies to a sign or symptom that is provoked or brought about by eating or drinking fructose." [] synonym: "Trigged by fruit sugar" EXACT layperson [] is_a: HP:0025208 ! Triggered by carbohydrate ingestion property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T13:48:19Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025210 name: Triggered by glucose ingestion def: "Applies to a sign or symptom that is provoked or brought about by eating or drinking glucose." [] is_a: HP:0025208 ! Triggered by carbohydrate ingestion property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T13:48:59Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025211 name: Triggered by ethanol ingestion def: "Applies to a sign or symptom that is provoked or brought about by drinking or otherwise ingesting ethanol." [] synonym: "Ethanol ingestion triggered symptoms" EXACT [] synonym: "Triggered by alcohol ingestion" BROAD layperson [] is_a: HP:0025204 ! Triggered by property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T13:50:14Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025212 name: Triggered by fasting def: "Applies to a sign or symptom that is provoked or brought about by abstaining from eating food (fasting)." [] synonym: "Fasting triggered attacks" EXACT [] synonym: "Fasting triggered symptoms" EXACT [] synonym: "Triggered by fasting" EXACT layperson [] is_a: HP:0025204 ! Triggered by property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T13:50:53Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025213 name: Triggered by galactose ingestion def: "Applies to a sign or symptom that is provoked or brought about by eating or drinking galactose. Galactose usually is ingested as lactose, which is composed of equimolar amounts of glucose and galactose." [] synonym: "Triggered by ingestion of lactose-containing milk" EXACT layperson [] is_a: HP:0025208 ! Triggered by carbohydrate ingestion property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T13:51:49Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025214 name: Triggered by heat def: "Applies to a sign or symptom that is provoked or brought about by exposure to heat." [] synonym: "Heat triggered symptoms" EXACT [] synonym: "Triggered by heat" EXACT layperson [] is_a: HP:0025204 ! Triggered by property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T13:59:21Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025215 name: Triggered by febrile illness def: "Applies to a sign or symptom that is provoked or brought about by febrile illness." [] synonym: "Febrile illness triggered symptoms" EXACT [] synonym: "Triggered by fever" EXACT layperson [] is_a: HP:0025204 ! Triggered by property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T14:00:39Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025216 name: Triggered by heavy meal def: "Applies to a sign or symptom that is provoked or brought about by eating large quantities of food, for instance, by a heavy meal." [] synonym: "Heavy meal triggered symptoms" EXACT [] synonym: "Triggered by overeating" EXACT layperson [] is_a: HP:0025204 ! Triggered by property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T14:01:22Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025217 name: Triggered by high-fat diet def: "Applies to a sign or symptom that is provoked or brought about by eating a diet high in lipids." [] synonym: "High-fat diet triggered symptoms" EXACT [] synonym: "Triggered by high-fat diet" EXACT layperson [] is_a: HP:0025204 ! Triggered by property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T14:02:17Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025218 name: Triggered by hyperventilation def: "Applies to a sign or symptom that is provoked or brought about by excessively rapid and deep breathing." [] synonym: "Hyperventilation triggered symptoms" EXACT [] synonym: "Triggered by hyperventilation" EXACT layperson [] is_a: HP:0025204 ! Triggered by property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T14:02:50Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025219 name: Triggered by vaccination def: "Applies to a sign or symptom that is provoked or brought about by a vaccination." [PMID:26633955] synonym: "Triggered by immunization" EXACT [] synonym: "Triggered by vaccination" EXACT layperson [] synonym: "Vaccination triggered symptoms" EXACT [] is_a: HP:0025204 ! Triggered by property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T14:04:16Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025220 name: Triggered by menstruation def: "Applies to a sign or symptom that is provoked or brought about by menstruation in a female." [] synonym: "Menstruation triggered symptoms" EXACT [] synonym: "Triggered by monthly period" EXACT layperson [] synonym: "Triggered by period" EXACT layperson [] is_a: HP:0025204 ! Triggered by property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T14:05:58Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025221 name: Triggered by pregnancy def: "Applies to a sign or symptom that is provoked or brought about by pregnancy in a female." [] synonym: "Pregnancy triggered symptoms" EXACT [] synonym: "Triggered by pregnancy" EXACT layperson [] is_a: HP:0025204 ! Triggered by property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T14:06:54Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025222 name: Triggered by sleep deprivation def: "Applies to a sign or symptom that is provoked or brought about by a lack of sufficient sleep." [] synonym: "Sleep deprivation triggered symptoms" EXACT [] synonym: "Triggered by sleep deprivation" EXACT layperson [] is_a: HP:0025204 ! Triggered by property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T14:07:29Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025223 name: Triggered by smoking def: "Applies to a sign or symptom that is provoked or brought about by smoking." [] synonym: "Smoking triggered symptoms" EXACT [] synonym: "Triggered by cigarette consumption" EXACT layperson [] synonym: "Triggered by smoking" EXACT layperson [] synonym: "Triggered by tobacco use" EXACT layperson [] is_a: HP:0025204 ! Triggered by property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T14:07:58Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025224 name: Triggered by sodium ingestion def: "Applies to a sign or symptom that is provoked or brought about by eating or drinking sodium." [] synonym: "Sodium ingestion triggered symptoms" EXACT [] synonym: "Sodium intake triggered attacks" EXACT [] synonym: "Triggered by Na ingestion" EXACT HP:0045077 [] synonym: "Triggered by Na+ ingestion" EXACT HP:0045077 [] synonym: "Triggered by salt ingestion" NARROW layperson [] synonym: "Triggered by sodium intake" EXACT [] is_a: HP:0025204 ! Triggered by property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T14:08:50Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025225 name: Triggered by sound def: "Applies to a sign or symptom that is provoked or brought about by exposure to sound or noise." [] comment: For instance, seizures associated with autosomal dominant partial epilepsy with auditory features may be triggered by certain sounds such as telephone ringing or speech. synonym: "Sound triggered symptoms" EXACT [] synonym: "Triggered by sound" EXACT layperson [] is_a: HP:0025204 ! Triggered by property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T14:09:30Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025226 name: Triggered by stress def: "Applies to a sign or symptom that is provoked or brought about by a physical, mental, or emotional factor associated with bodily or mental tension." [] synonym: "Stress triggered symptoms" EXACT [] synonym: "Triggered by stress" EXACT layperson [] is_a: HP:0025204 ! Triggered by property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T14:24:37Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025227 name: Triggered by excitement def: "Applies to a sign or symptom that is provoked or brought about by a a state of excitement or by being startled." [] synonym: "Excitement triggered symptoms" EXACT [] synonym: "Triggered by excitement" EXACT layperson [] synonym: "Triggered by startle" RELATED [] is_a: HP:0025204 ! Triggered by property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T14:28:21Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025228 name: Triggered by sudden movement def: "Applies to a sign or symptom that is provoked or brought about by a sudden movement." [] synonym: "Kinesigenic" EXACT [] synonym: "Sudden movement triggered symptoms" EXACT [] synonym: "Triggered by sudden movement" EXACT layperson [] is_a: HP:0025204 ! Triggered by property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T14:29:50Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025229 name: Triggered by vestibular stimulation def: "Applies to a sign or symptom that is provoked or brought about by vestibular stimulation, including head turning, cold calorics, postural changes, or rotating chair." [] synonym: "Vestibular stimulation triggered attacks" EXACT [] synonym: "Vestibular stimulation triggered symptoms" EXACT [] is_a: HP:0025204 ! Triggered by property_value: http://purl.org/dc/elements/1.1/date 2016-12-10T14:30:38Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025230 name: Tendonitis def: "Inflammation of a tendon." [] synonym: "Teninitis" EXACT [] is_a: HP:0100261 ! Abnormal tendon morphology property_value: http://purl.org/dc/elements/1.1/date 2016-12-14T11:20:22Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025231 name: Abnormality of synovial bursa morphology def: "A structural anomaly of a synovial bursa." [] comment: A synovial bursa is a small fluid-filled saclike cavity that facilitates the gliding of muscles or tendons over bony or ligamentous surfaces. There are numerous synovial bursae in the body, for instance at the shoulder, elbow, knee, and hip. is_a: HP:0011842 ! Abnormality of skeletal morphology property_value: http://purl.org/dc/elements/1.1/date 2016-12-14T11:29:35Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025232 name: Bursitis def: "Inflammation of a synovial bursa." [] is_a: HP:0025231 ! Abnormality of synovial bursa morphology property_value: http://purl.org/dc/elements/1.1/date 2016-12-14T11:33:51Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025233 name: Sleep paralysis def: "An inability to move the body at sleep onset or upon awakening from sleep lasting seconds to a few minutes." [PMID:21571556] is_a: HP:0002360 ! Sleep disturbance property_value: http://purl.org/dc/elements/1.1/date 2016-12-14T11:44:36Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025234 name: Parasomnia def: "An undesirable physical event or experience that occur during entry into sleep, during sleep, or during arousal from sleep." [PMID:27647645] is_a: HP:0002360 ! Sleep disturbance property_value: http://purl.org/dc/elements/1.1/date 2016-12-14T11:50:48Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025235 name: Non-rapid eye movement parasomnia def: "A parasomnia that occurs in non-rapid eye movement (NREM) sleep. This refers to a disorder of arousal that occurs during slow-wave sleep (ie, NREM stage 3 sleep)." [PMID:27647645] comment: NREM parasomnias usually occur within a few hours after sleep onset, episodes last from a few minutes to as long as 30-40 min, and are characterised by amnesia for the\nevent. synonym: "NREM parasomnia" EXACT [] is_a: HP:0025234 ! Parasomnia property_value: http://purl.org/dc/elements/1.1/date 2016-12-14T11:55:11Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025236 name: Somnambulism def: "Ambulation or other complex motor behaviors after getting out of bed in a sleep-like state. During sleepwalking episodes, the sonambulating individual appears confused or dazed, the eyes are usually open, and he or she might mumble or give inappropriate answers to questions, or occasionally appear agitated." [PMID:27647645] comment: During an episode of sleepwalking, the sonambulating child typically appears clumsy and might perform unusual actions such as urinating in a closet. Injuries can occur during sleepwalking, including falling downstairs or after leaving the house. synonym: "Sleep walking" EXACT layperson [ORCID:0000-0002-0736-9199] is_a: HP:0025235 ! Non-rapid eye movement parasomnia property_value: http://purl.org/dc/elements/1.1/date 2016-12-14T12:01:00Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025237 name: Confusional arousal def: "A nocturnal episode characterized by disorientation, grogginess, and, at times, substantial agitation upon awakening from slow-wave sleep or following forced awakenings. These characteristics might present as agitation, crying or moaning, disorientation, and particularly slow mentation on arousal from sleep (i.e., sleep inertia). The duration of episodes is typically 5 to 15 min but they might last up to several hours." [PMID:27647645] is_a: HP:0025235 ! Non-rapid eye movement parasomnia property_value: http://purl.org/dc/elements/1.1/date 2016-12-14T12:07:36Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025238 name: Foot pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot." [] synonym: "Foot pain" EXACT layperson [] is_a: HP:0012531 ! Pain property_value: http://purl.org/dc/elements/1.1/date 2016-12-16T11:55:08Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025239 name: Subhyaloid hemorrhage def: "A localized detachment of the vitreous from the retina due to the accumulation of blood. When localized in the macular area, it results in sudden profound loss of vision. Subhyaloid premacular hemorrhage is typically characterized by a circumscribed, round or dumb-bell shaped, bright red mound of blood beneath the internal limiting membrane (ILM) or between the ILM and hyaloid face, in or near to the central macular area." [PMID:27090882] comment: Clinically speaking, distinguishing between preretinal and subhyaloid hemorrhages is difficult. Therefore, clinicians use the terms inter-changeably. A D-shaped or boat-shaped appearance may be observed, because the blood accumulates within loosely adherent tissue of the superficial retina and can spread and settle inferiorly with gravity. A sharp demarcation line is usually evident. synonym: "Subhyaloid heme" EXACT [] is_a: HP:0025240 ! Preretinal hemorrhage property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T00:34:43Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025240 name: Preretinal hemorrhage def: "An accumulation of blood between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation." [UManchester:psergouniotis] comment: Clinically speaking, distinguishing between preretinal and subhyaloid hemorrhages is difficult. Therefore, clinicians often use the terms interchangeably. A D-shaped or boat-shaped appearance may be observed, because the blood accumulates within loosely adherent tissue of the superficial retina and can spread and settle inferiorly with gravity. A sharp demarcation line is usually evident. synonym: "Preretinal haemorrhage" EXACT HP:0045076 [] synonym: "Preretinal heme" EXACT [] is_a: HP:0031803 ! Fundus hemorrhage property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T00:54:15Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025241 name: Flame-shaped retinal hemorrhage def: "A type of retinal hemorrhage that is located within the nerve fiber layer (NFL) of the retina and that exhibits a characteristic flame shape which results from constraints by the structure of the NFL (axons of the ganglion cells)." [] comment: Flame-shaped hemorrhages are typically located in the posterior pole and tend to resolve within around six weeks. THeir pathophysiology is thought to reflect ischemic leakage from arterioles or veins that are ischemic or, in the case of veins, under high pressure. synonym: "Feathered retinal heme" EXACT [] synonym: "Flame-shaped retinal haemorrhage" EXACT HP:0045076 [] synonym: "Linear retina heme" EXACT [] is_a: HP:0031805 ! Intraretinal hemorrhage property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T01:14:14Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025242 name: Dot-and-blot retinal hemorrhage def: "Accumulation of blood located in the retina's inner nuclear and outer plexiform layers, and having a dot-like or blot-like shape. THe shape results from intraretinal compression, restricting the hemorrhages within a specific location." [] comment: Dot-ant-blot Intraretinal hemorrhages take longer to resolve than superficial hemorrhages because they're deeper than flame-shaped hemorrhages. synonym: "Dot-and-blot retinal haemorrhage" EXACT HP:0045076 [] synonym: "Round retinal heme" EXACT [] is_a: HP:0031805 ! Intraretinal hemorrhage property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T01:25:52Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025243 name: Subretinal hemorrhage def: "Accumulation of blood located beneath the neurosensory retina in the space between the neurosensory retina and the retinal pigment epithelium." [] comment: Subretinal hemorrhages are located deep in the retina, displaying a dark coloration with the retinal vessels clearly visible above. Subretinal hemorrhages tend not to be well delineated because of the lack of firm attachments between the neurosensory retina and the retinal pigment epithelium, allowing the blood to spread. synonym: "Subretinal haemorrhage" EXACT HP:0045076 [] synonym: "Subretinal heme" EXACT [] is_a: HP:0000573 ! Retinal hemorrhage property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T01:29:29Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025244 name: Subretinal pigment epithelium hemorrhage def: "An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch's membrane." [] synonym: "Subretinal pigment epithelium haemorrhage" EXACT HP:0045076 [] is_a: HP:0000573 ! Retinal hemorrhage property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T01:39:54Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025245 name: Cutaneous cyst def: "A hollow mass located in the skin that is surrounded by an epithelium-lined wall and is well demarcated from the adjacent tissue. Cysts are often said to be sac-like and may contain serous liquid or semisolid material." [] comment: In contrast to cysts, vesicles, pustules and bullae do not have a complete epithelial lining and are therefore less well demarcated. is_a: HP:0011355 ! Localized skin lesion property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T13:11:37Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025246 name: Trichilemmal cyst def: "Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous." [] comment: Epidermal cysts and trichilemmal cysts are clinically indistinguishable. The wall of the epidermal cyst conserves the epidermal layers, but the wall of the trichilemmal cysts, which arise from the external root sheath, shows palisading of unlayered epithelial cells. Homogeneous horny material that is further degraded to fat and cholesterol forms within both types of cysts. synonym: "Pilar cyst" EXACT [] is_a: HP:0025245 ! Cutaneous cyst property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T13:45:04Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025247 name: Dermoid cyst def: "A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are\nslowly progressive and can grow to a size of 1 to 4 cm." [] is_a: HP:0025245 ! Cutaneous cyst property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T13:49:23Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025248 name: Eruptive vellus hair cyst def: "A cutaneous cyst that is small (one or two millimeters in diameter) and painless, presenting as a follicular papule that usually is skin colored but may have a reddish or brownish tinge." [] comment: Eruptive vellus hair cysts result from occlusion and cystic dilation of vellus hair follicles. is_a: HP:0025245 ! Cutaneous cyst property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T13:52:25Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025249 name: Comedo def: "A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle)." [] is_a: HP:0011355 ! Localized skin lesion property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T13:56:03Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025250 name: Closed comedo def: "A comedo in which the top of the pore is not stretched open and thus does not expose the clogged portion (which would appear black), hence the name whitehead." [] synonym: "Whitehead" EXACT layperson [ORCID:0000-0002-0736-9199] is_a: HP:0025249 ! Comedo property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T13:57:50Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025251 name: Open comedo def: "A comedo in which the part of the pore at the surface of the skin is stretched and open, exposing the contents of the comedo, which appear black." [] synonym: "Blackhead" EXACT layperson [ORCID:0000-0002-0736-9199] is_a: HP:0025249 ! Comedo property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T14:04:52Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025252 name: Geographic tongue def: "An anomaly of the tongue characterized by loss (atrophy) of filiform papillae of the tongue, leaving areas of erythema (redness), surrounded by a serpiginous, white, hyperkeratotic border. The name geographic tongue refers to an appearance that is said to be similar to a map." [] synonym: "Glossitis areata exfoliativa" EXACT [] is_a: HP:0030809 ! Abnormal tongue morphology property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T14:09:31Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025253 name: Claustrophobia def: "An abnormal fear of being in a closed or narrow space with no escape." [] is_a: HP:0100852 ! Abnormal fear/anxiety-related behavior property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T14:14:59Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025254 name: Ameliorated by def: "An ameliorating factor is defined as an external factor that leads to a sign or symptom that is already present improving or becoming more bearable" [] synonym: "Improved by" EXACT [] is_a: HP:0012823 ! Clinical modifier property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T14:17:46Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025255 name: Ameliorated by pregnancy def: "Applies to a sign or symptom that is improved or made more bearable by pregnancy in a female." [] synonym: "Pregnancy relieves symptoms" EXACT [] is_a: HP:0025254 ! Ameliorated by property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T14:19:29Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025256 name: Ameliorated by heat def: "Applies to a sign or symptom that is improved or made more bearable by heat (including fever)." [] synonym: "Fever improves condition" NARROW [] synonym: "Heat improves condition" EXACT [] synonym: "Heat improves symptom" EXACT [] is_a: HP:0025254 ! Ameliorated by property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T14:20:45Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025257 name: Ameliorated by carbohydrate ingestion def: "Applies to a sign or symptom that is improved or made more bearable by eating or drinking carbohydrates including glucose (sugar)." [] is_a: HP:0025254 ! Ameliorated by property_value: http://purl.org/dc/elements/1.1/date 2016-12-17T14:21:33Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025258 name: Stiff neck def: "A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side." [] synonym: "Neck stiffness" EXACT layperson [] synonym: "Stiff neck" EXACT layperson [] is_a: HP:0001387 ! Joint stiffness is_a: HP:0005986 ! Limitation of neck motion property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T01:06:15Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025259 name: Stiff elbow def: "A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity." [] synonym: "Elbow stiffness" EXACT layperson [] synonym: "Stiff elbow" EXACT layperson [] is_a: HP:0001387 ! Joint stiffness property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T01:11:24Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025260 name: Stiff wrist def: "A sensation of tightness in the wrist joint when attempting to move it, especially after a period of inactivity." [] synonym: "Stiff wrist" EXACT layperson [] synonym: "Wrist stiffness" EXACT layperson [] is_a: HP:0001387 ! Joint stiffness property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T01:12:32Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025261 name: Stiff finger def: "A sensation of tightness in a finger joint when attempting to move it, especially after a period of inactivity." [] synonym: "Finger stiffness" EXACT layperson [] synonym: "Stiff finger" EXACT layperson [] is_a: HP:0001387 ! Joint stiffness property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T01:13:47Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025262 name: Stiff hip def: "A sensation of tightness in the hip joint when attempting to move it, especially after a period of inactivity." [] synonym: "Hip stiffness" EXACT layperson [] synonym: "Stiff hip" EXACT layperson [] is_a: HP:0001387 ! Joint stiffness property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T01:15:11Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025263 name: Stiff knee def: "A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity." [] synonym: "Knee stiffness" EXACT layperson [] synonym: "Stiff knee" EXACT layperson [] is_a: HP:0001387 ! Joint stiffness property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T01:16:12Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025264 name: Stiff ankle def: "A sensation of tightness in the ankle joint when attempting to move it, especially after a period of inactivity." [] synonym: "Ankle stiffness" EXACT layperson [] synonym: "Stiff ankle" EXACT layperson [] is_a: HP:0001387 ! Joint stiffness property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T01:17:12Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025265 name: Stiff toe def: "A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity." [] synonym: "Stiff toe" EXACT layperson [] synonym: "Toe stiffness" EXACT layperson [] is_a: HP:0001387 ! Joint stiffness property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T01:18:04Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025266 name: Cervical osteoarthritis def: "Degeneration (wear and tear) of the articular cartilage of the neck joints." [] is_a: HP:0002758 ! Osteoarthritis property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T01:33:11Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025267 name: Snoring def: "Deep, noisy breathing during sleep accompanied by hoarse or harsh sounds caused by the vibration of respiratory structures (especially the soft palate) resulting in sound due to obstructed air movement during breathing while sleeping." [] synonym: "Snore" EXACT [] synonym: "Snores" EXACT [] synonym: "Snoring symptoms" EXACT [] is_a: HP:0002360 ! Sleep disturbance is_a: HP:0002795 ! Functional respiratory abnormality property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T13:24:58Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025268 name: Stuttering def: "Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds." [] synonym: "Stammering" EXACT layperson [ORCID:0000-0002-0736-9199] synonym: "Stuttering" EXACT layperson [] is_a: HP:0002167 ! Neurological speech impairment property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T13:27:31Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025269 name: Panic attack def: "A sudden episode of intense fear in a situation in which there is no danger or apparent cause. The panic attack is accompanied by symptoms such as palpitations, sweating and chills or hot flushes. There may be a sensation of dyspnea (being out of breath), chest pain, or abdominal distress. Some indiviudals with panic attacks may experience depersonalization, a fear of going crazy, or a fear of dying." [] synonym: "Panic attack" EXACT layperson [] is_a: HP:0100852 ! Abnormal fear/anxiety-related behavior property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T13:34:22Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025270 name: Abnormality of esophagus physiology def: "Any physiological abnormality of the esophagus." [] synonym: "Functional abnormality of the esophagus" EXACT [] is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T13:39:06Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025271 name: Esophageal spasms def: "Involuntary contractions of the esophagus that are irregular, uncoordinated, and painful." [] is_a: HP:0025270 ! Abnormality of esophagus physiology property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T13:45:05Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025272 name: Melasma def: "Symmetrical, blotchy, brownish facial pigmentation." [] comment: Melasma can be seen in individuals who have had substantial exposure to the sun, in pregnant women, with hormone treatments or as a side effect of certain medications, or with hypothyroidism, among other causes. synonym: "Chloasma" EXACT [] synonym: "Facial melanosis" EXACT [] is_a: HP:0000953 ! Hyperpigmentation of the skin property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T13:48:05Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025273 name: Achilles tendonitis def: "Inflammation of the Achilles tendon." [] is_a: HP:0025230 ! Tendonitis property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T13:52:07Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025274 name: Ovarian dermoid cyst def: "An cystic ovarian teratoma composed of dermal and epidermal elements and containing tissue components including hair, teeth, bone, thyroid, and others." [] synonym: "Mature cystic ovarian teratoma" EXACT [] is_a: HP:0000138 ! Ovarian cyst is_a: HP:0012226 ! Ovarian teratoma property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T13:56:16Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025275 name: Lateral def: "Applies to an abnormality that is located farther from the median plane or midline of the body or of the referenced structure." [] is_a: HP:0012836 ! Spatial pattern property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T14:47:04Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025276 name: Abnormality of skin adnexa physiology def: "Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands." [] is_a: HP:0001574 ! Abnormality of the integument property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T14:51:16Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025277 name: Gustatory sweating def: "Hyperhidrosis that occurs with gustatory stimulation (e.g., moisture on face from sweating that occurs after eating)." [PMID:22798976] is_a: HP:0025276 ! Abnormality of skin adnexa physiology property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T15:12:09Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025278 name: Cold-induced sweating def: "Sweating provoked by cold temperature rather than by heat." [] is_a: HP:0025276 ! Abnormality of skin adnexa physiology property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T15:16:15Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025279 name: Migratory is_a: HP:0011008 ! Temporal pattern property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T15:18:09Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025280 name: Pain characteristic def: "A pain characteristic is defined as a subjective category or type of pain." [] is_a: HP:0012823 ! Clinical modifier property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T15:21:51Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025281 name: Sharp def: "Applied to pain that is described as sharp, i.e., sudden and severe." [] is_a: HP:0025280 ! Pain characteristic property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T15:23:03Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025282 name: Dull def: "Applied to pain that is dull, i.e., not severe but that continues over a long period of time." [] synonym: "Dull pain" EXACT [] is_a: HP:0025280 ! Pain characteristic property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T15:23:43Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025283 name: Tender def: "Applied to pain that is tender, i.e., elicited by touching the affected body part." [] is_a: HP:0025280 ! Pain characteristic property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T15:25:03Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025284 name: Sleep-interrupting def: "Applied to pain that wakes the affecting individual from sleep." [] is_a: HP:0025280 ! Pain characteristic property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T15:26:21Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025285 name: Aggravated by def: "An aggravating factor is defined as an external factor that leads to a sign or symptom that is already present getting worse or becoming more severe." [] synonym: "Exacerbated by" EXACT [] is_a: HP:0012823 ! Clinical modifier property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T15:29:42Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025286 name: Aggravated by activity def: "Applied to a sign or symptom that is aggravated by activity, exertion, or exercise." [] synonym: "Aggravated by exercise" EXACT [] synonym: "Aggravated by exertion" EXACT [] synonym: "Worse with activity" EXACT [] synonym: "Worsened by activity" EXACT [] is_a: HP:0025285 ! Aggravated by property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T15:30:58Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025287 name: Axial def: "Applies to an abnormality that is situated in the central part of the body, in the head and trunk as distinguished from the limbs." [] is_a: HP:0012836 ! Spatial pattern property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T15:34:25Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025289 name: Cervical lymphadenopathy def: "Enlarged lymph nodes in the neck." [] synonym: "Swollen lymph nodes in the neck" EXACT layperson [] is_a: HP:0002716 ! Lymphadenopathy property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T15:40:35Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025290 name: Upper-body predominance def: "Applies to an abnormality that affects the arms, trunk, head more than the legs." [] is_a: HP:0012836 ! Spatial pattern property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T16:11:12Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025291 name: Lower-body predominance def: "Applies to an abnormality that affects the legs more than the arms, trunk, head." [] is_a: HP:0012836 ! Spatial pattern property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T16:12:27Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025292 name: Acral def: "Applies to an abnormality that affects the distal portions of limbs (hand, foot) and head (ears, nose)." [] is_a: HP:0012836 ! Spatial pattern property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T16:15:24Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025293 name: Distributed along Blashko lines def: "Applies to an abnormality whose localization corresponds to the lines of Blashko, which are thought to reflect the pathways of epidermal cell migration and proliferation during the development of the fetus." [] is_a: HP:0012836 ! Spatial pattern property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T16:16:24Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025294 name: Dermatomal def: "Applies to an abnormality whose localization corresponds to the dermatomes, i.e., the nerve root distribution." [PMID:19772560] comment: This distribution can be seen with certain skin findings such as shingles. The term radicular is used to describe a dermatomal distribution of nerve root pain. synonym: "Radicular" EXACT [] is_a: HP:0012836 ! Spatial pattern property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T16:17:51Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025295 name: Herpetiform def: "Applies to an abnormality whose distribution and appearance resembles that of the grouped umbilicated vesicles seen in herpes simplex and herpes zoster infections." [] is_a: HP:0012836 ! Spatial pattern property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T16:19:13Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025296 name: Morbilliform def: "Applies to an abnormality whose distribution and appearance resembles that of measles, i.e., maculopapular lesions that are red and roughly 2 to 10 mm in diameter and may be partially confluent." [] is_a: HP:0012836 ! Spatial pattern property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T16:20:14Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025297 name: Prolonged def: "Applied to an abnormality whose duration is extended over a longer period of time than is expected or usual (e.g., prolonged fever lasts longer than one usually sees with an infection)." [] is_a: HP:0011008 ! Temporal pattern property_value: http://purl.org/dc/elements/1.1/date 2016-12-18T16:26:30Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025300 name: Malar rash def: "An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose." [] comment: This type of rash is seen in lupus erythematosus, but also in other diseases such as rosacea and seborrheic dermatitis. synonym: "Butterfly rash" EXACT [] synonym: "Cheekbone rash" EXACT [] is_a: HP:0000988 ! Skin rash property_value: http://purl.org/dc/elements/1.1/date 2016-12-20T11:59:38Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025301 name: Nocturnal def: "Applies to an abnormality that occurs in or is exacerbated during the night." [] is_a: HP:0011008 ! Temporal pattern property_value: http://purl.org/dc/elements/1.1/date 2016-12-20T12:30:06Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025302 name: Diurnal def: "Applies to a sign, symptom, or other abnormality that occurs in or is exacerbated in the day time." [] is_a: HP:0011008 ! Temporal pattern property_value: http://purl.org/dc/elements/1.1/date 2016-12-20T12:31:12Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025303 name: Episodic def: "Applied to a sign, symptom, or other manifestation that occurs multiple times at usually irregular intervals. The occurences are separated by an interval in which the sign, symptom, or manifestation is not present." [] comment: In our definition, episodic is synonymous with intermittent and recurrent. The term does not imply any particular temporal pattern of the recurrence. synonym: "Intermittant" EXACT [] synonym: "Now and then" EXACT layperson [] is_a: HP:0031796 ! Recurrent property_value: http://purl.org/dc/elements/1.1/date 2016-12-21T00:51:43Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025304 name: Periodic def: "Applies to a sign, symptom, or other manifestation that recurs with a fixed time interval, i.e., the symptom-free periods are always of the same length." [] is_a: HP:0031796 ! Recurrent property_value: http://purl.org/dc/elements/1.1/date 2016-12-21T00:55:09Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025305 name: Quotidian def: "Applies to a sign, symptom, or other manifestation that is episodic with a fixed time interval of one day (24 hours)." [] is_a: HP:0025304 ! Periodic property_value: http://purl.org/dc/elements/1.1/date 2016-12-21T00:57:17Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025306 name: Acute emergence over minutes def: "Acute appearance of disease manifestations in a period of minutes." [] is_a: HP:0011009 ! Acute property_value: http://purl.org/dc/elements/1.1/date 2016-12-21T01:00:35Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025307 name: Acute emergence over hours def: "Acute appearance of disease manifestations in a period of hours." [] is_a: HP:0011009 ! Acute property_value: http://purl.org/dc/elements/1.1/date 2016-12-21T01:01:25Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025308 name: Acute emergence over days def: "Acute appearance of disease manifestations in a period of days." [] is_a: HP:0011009 ! Acute property_value: http://purl.org/dc/elements/1.1/date 2016-12-21T01:01:46Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025309 name: Abnormal pupil shape def: "A deviation from the normal circular shape of the pupil" [] synonym: "Irregular pupil" EXACT layperson [ORCID:0000-0002-0736-9199] is_a: HP:0000615 ! Abnormal pupil morphology property_value: http://purl.org/dc/elements/1.1/date 2016-12-21T01:08:53Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025310 name: Oval pupil def: "An abnormal pupil shape that is elliptical, i.e., egg-like." [] is_a: HP:0025309 ! Abnormal pupil shape property_value: http://purl.org/dc/elements/1.1/date 2016-12-21T01:11:31Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025311 name: Anterior chamber cyst def: "A closed sac, having a distinct membrane and division compared to the nearby tissue located within the anterior chamber. The sac that may contain air, fluids, or semi-solid material." [] is_a: HP:0000593 ! Abnormal anterior chamber morphology property_value: http://purl.org/dc/elements/1.1/date 2016-12-21T01:32:14Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025312 name: Esophoria def: "A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters." [] is_a: HP:0020045 ! Esodeviation is_a: HP:0032011 ! Heterophoria property_value: http://purl.org/dc/elements/1.1/date 2016-12-21T01:43:27Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025313 name: Exophoria def: "A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia." [] is_a: HP:0020049 ! Exodeviation is_a: HP:0032011 ! Heterophoria property_value: http://purl.org/dc/elements/1.1/date 2016-12-21T01:46:52Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025314 name: Choroidal nevus def: "A benign, flat or slightly elevated melanocytic lesions of the posterior uveawith clearly defined margins. Choroidal nevi tend they remain stable in size, and to display features such as overlying drusen as well as retinal pigment epithelial atrophy, hyperplasia or fibrous metaplasia." [] is_a: HP:0000610 ! Abnormal choroid morphology property_value: http://purl.org/dc/elements/1.1/date 2016-12-21T01:54:28Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025315 name: Exacerbated by head trauma def: "Applies to a sign or symptom that is worsened, aggravated, or exacerbated by head trauma." [] comment: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease is an autosomal recessive disorder characterized by ataxia, spasticity, and variable optic atrophy. Chronic progressive decline can be exacerbated by rapid deterioration during febrile illnesses or following head trauma. is_a: HP:0025285 ! Aggravated by property_value: http://purl.org/dc/elements/1.1/date 2016-12-21T02:22:58Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025317 name: Cubitus varus def: "A deformity of the elbow in which there is a deviation of the forearm toward the midline of the body." [] comment: Normally, if the arm is held in full extension, the forearm is aligned in valgus with respect to the arm. A decrease in valgus with neutral alignment (loss of angulation) is called cubitus rectus, and a further decreases is called varus. Cubitus varus may be congenital (often progressive), or may be a complication of humerus fracture, trochlear osteonecrosis, and malunited intercondylar fracture. Radiographically, the metaphyseo-diaphyseal angle is normally 90 degrees. With cubitus varus, the angle is larger, with cubitus valgus, the angle is smaller. is_a: HP:0009811 ! Abnormality of the elbow property_value: http://purl.org/dc/elements/1.1/date 2017-01-13T13:20:56Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025318 name: Ovarian carcinoma def: "A malignant neoplasm originating from the surface ovarian epithelium." [] synonym: "Ovarian epithelial cancer" EXACT [] xref: NCIT:C4908 is_a: HP:0100615 ! Ovarian neoplasm property_value: http://purl.org/dc/elements/1.1/date 2017-01-25T14:30:43Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025319 name: Rubeosis iridis def: "Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification." [PMID:27895936] synonym: "Neovascularization of the iris" EXACT [] is_a: HP:0007905 ! Abnormal iris vasculature property_value: http://purl.org/dc/elements/1.1/date 2017-01-25T14:46:08Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025320 name: Leakage of dye on fundus fluorescein angiography def: "Leakage of fluorescein dye observed upon retinal fluorescein angiography. Areas of leakage can be appreciated as showing gradual enlargement with blurring of margins." [] comment: Leakage can be caused by incompetent blood vessels such as with choroidal or diabetic neovascularization. Alternatively, leakage can be associated with a diseased retinal pigment epithelium resulting in leakage of fluorescein from the choroid. synonym: "Fluorescein leakage" EXACT [] is_a: HP:0030604 ! Abnormal fundus fluorescein angiography property_value: http://purl.org/dc/elements/1.1/date 2017-01-25T14:52:18Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025321 name: Copper accumulation in liver def: "An anomalous build up of copper (Cu) in the liver." [] synonym: "Liver copper accumulation" EXACT [] is_a: HP:0032243 ! Abnormal tissue metabolite concentration property_value: http://purl.org/dc/elements/1.1/date 2017-02-03T11:46:21Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025322 name: Venous occlusion def: "Blockage of venous return (flow of blood from the periphery back towards the right atrium) in a vein." [] is_a: HP:0030846 ! Abnormality of venous physiology property_value: http://purl.org/dc/elements/1.1/date 2017-02-03T12:05:01Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025323 name: Abnormal arterial physiology def: "An anomaly of arterial function." [] is_a: HP:0030163 ! Abnormal vascular physiology property_value: http://purl.org/dc/elements/1.1/date 2017-02-03T12:08:38Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025324 name: Arterial occlusion def: "Blockage of blood flow through an artery." [] is_a: HP:0025323 ! Abnormal arterial physiology property_value: http://purl.org/dc/elements/1.1/date 2017-02-03T12:09:18Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025325 name: Sparse medial eyebrow def: "Decreased density/number and/or decreased diameter of medial eyebrow hairs." [] synonym: "Medial thinning of eyebrow" EXACT [] is_a: HP:0045075 ! Sparse eyebrow property_value: http://purl.org/dc/elements/1.1/date 2017-02-04T16:43:31Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025326 name: Retinal arterial occlusion def: "Blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina." [] comment: Retinal artery occlusion can manifest as painless loss of monocular vision. synonym: "Retinal artery occlusion" EXACT [] is_a: HP:0000630 ! Abnormal retinal artery morphology property_value: http://purl.org/dc/elements/1.1/date 2017-02-04T17:22:01Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025327 name: Decreased renal parenchymal thickness def: "Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans." [PMID:19254392, PMID:2117353] comment: The thickness of the renal parenchyma decreases with age. The thickness of the renal parenchyma is correlated with renal function. is_a: HP:0012210 ! Abnormal renal morphology property_value: http://purl.org/dc/elements/1.1/date 2017-02-11T10:48:34Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025328 name: Antepartum hemorrhage def: "Significant maternal hemorrhage/bleed in the second half of pregnancy and prior to the birth of the baby." [] synonym: "Antepartum haemorrhage" EXACT HP:0045076 [] synonym: "Prepartum haemorrhage" EXACT HP:0045076 [] synonym: "Prepartum hemorrhage" EXACT [] is_a: HP:0011029 ! Internal hemorrhage property_value: http://purl.org/dc/elements/1.1/date 2017-02-11T11:09:10Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025329 name: Anti-glutamic acid decarboxylase antibody positivity def: "The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase." [PMID:27356651] comment: The enzyme called glutamate decarboxylase or glutamic acid decarboxylase (GAD) catalyyzes the conversion of glutamate to gamma aminobutyric acid (g-Amino butyric acid, GABA). Autoantibodies against GAD this antibody may block the conversion of glutamate to GABA. and lead to a reduction in the amount of GABA in the nervous system. synonym: "Anti-GAD antibody positivity" EXACT HP:0045077 [] is_a: HP:0030057 ! Autoimmune antibody positivity property_value: http://purl.org/dc/elements/1.1/date 2017-02-11T11:15:35Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025330 name: Downgaze palsy def: "A limitation of the ability to direct one's gaze below the horizontal meridian." [PMID:8913186] synonym: "Downgaze paresis" EXACT [] synonym: "Supranuclear downgaze palsy" EXACT [] is_a: HP:0000511 ! Vertical supranuclear gaze palsy property_value: http://purl.org/dc/elements/1.1/date 2017-02-11T11:41:16Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025331 name: Upgaze palsy def: "A limitation of the ability to direct one's gaze above the horizontal meridian." [] synonym: "Supranuclear upgaze palsy" EXACT [] synonym: "Upgaze paresis" EXACT [] is_a: HP:0000511 ! Vertical supranuclear gaze palsy property_value: http://purl.org/dc/elements/1.1/date 2017-02-11T11:54:20Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025332 name: Abnormality of foot cortical bone def: "An anomaly of the outer shell (cortex) of a foot bone." [] synonym: "Abnormality of the cortex of foot bones" EXACT [] is_a: HP:0003103 ! Abnormal cortical bone morphology property_value: http://purl.org/dc/elements/1.1/date 2017-02-11T12:09:16Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025333 name: Cortical thinning of foot bones def: "A reduction in the thickness of the outer shell (cortex) of foot bones." [PMID:24055421] is_a: HP:0025332 ! Abnormality of foot cortical bone property_value: http://purl.org/dc/elements/1.1/date 2017-02-11T12:10:34Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025334 name: Triggered by emotion def: "Applies to a sign or symptom that is provoked or brought about by a strong spontaneously arising mental state, reaction or feeling (emotion)." [] synonym: "Emotion triggered symptoms" EXACT [] is_a: HP:0025204 ! Triggered by property_value: http://purl.org/dc/elements/1.1/date 2017-02-12T11:38:35Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025335 name: Delayed ability to stand def: "A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months." [PMID:23321410] is_a: HP:0002194 ! Delayed gross motor development property_value: http://purl.org/dc/elements/1.1/date 2017-02-12T11:48:00Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025336 name: Delayed ability to sit def: "A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age." [PMID:23321410] is_a: HP:0002194 ! Delayed gross motor development property_value: http://purl.org/dc/elements/1.1/date 2017-02-12T12:04:58Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025337 name: Red eye def: "A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera." [] is_a: HP:0008047 ! Abnormality of the vasculature of the eye property_value: http://purl.org/dc/elements/1.1/date 2017-02-12T12:27:39Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025338 name: Circumlimbal hyperemia def: "A ring of redness at the limbus of the eye, the border between the cornea and the sclera." [] synonym: "Ciliary limbus" EXACT [] synonym: "Circumlimbal hyperaemia" EXACT HP:0045076 [] is_a: HP:0030953 ! Conjunctival hyperemia property_value: http://purl.org/dc/elements/1.1/date 2017-02-12T12:32:14Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025339 name: Superficial episcleral hyperemia def: "Prominence of blood vessels of the superficial episcleral tissues." [] comment: The episclera is a fibroelastic structure with two loosely joined layers. The superficial layer contains vessels of the superficial episcleral capillary plexus that appear straight and are arranged in a radial fashion. The deeper layer contains a highly anastomotic network of blood vessels. The episclera and sclera have a separate blood supply from that of the conjunctiva. Conjunctival hyperemia can be distinguished from episceral hyperemia because conjunctival hyperemia is characterized by finer, less tortuous vessels but deeper episcleral hyperemia maybe violaceous. The conjunctival vessels but not the deeper vessels can be moved by massaging with a cotton swab. synonym: "Superficial episcleral hypaeremia" EXACT HP:0045076 [] is_a: HP:0000591 ! Abnormal sclera morphology is_a: HP:0025337 ! Red eye property_value: http://purl.org/dc/elements/1.1/date 2017-02-12T12:45:32Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025340 name: Deep episcleral hyperemia def: "Prominence of blood vessels of the deep episcleral tissues." [] comment: The episclera is a fibroelastic structure with two loosely joined layers. The superficial layer contains vessels of the superficial episcleral capillary plexus that appear straight and are arranged in a radial fashion. The deeper layer contains a highly anastomotic network of blood vessels. The episclera and sclera have a separate blood supply from that of the conjunctiva. Conjunctival hyperemia can be distinguished from episceral hyperemia because conjunctival hyperemia is characterized by finer, less tortuous vessels but deeper episcleral hyperemia maybe violaceous. The conjunctival vessels but not the deeper vessels can be moved by massaging with a cotton swab. synonym: "Deep episcleral hyperaemia" EXACT HP:0045076 [] is_a: HP:0000591 ! Abnormal sclera morphology is_a: HP:0025337 ! Red eye property_value: http://purl.org/dc/elements/1.1/date 2017-02-12T13:00:24Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025341 name: Corneal keratic precipitates def: "An inflammatory cellular deposit deposited on the corneal endothelium and visible as spots on the cornea." [] comment: Keratic precipitates may collect in a triangular pattern called Arit triangle with the base down on the lower part of theendothelial surface or may be distributed diffusely accross the endothelium. If they are greasy in appearance, the term mutton fat keratic precipitate is used. is_a: HP:0011488 ! Abnormal corneal endothelium morphology property_value: http://purl.org/dc/elements/1.1/date 2017-02-12T13:03:48Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025342 name: Central retinal artery occlusion def: "Blockage of blood flow in the central retinal artery." [] comment: Central retinal artery occlusion canmanifest as sudden, acute, and painless loss of vision in one eye. is_a: HP:3000032 ! Abnormality of central retinal artery property_value: http://purl.org/dc/elements/1.1/date 2017-02-12T13:17:04Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025343 name: Lupus anticoagulant def: "Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces." [PMID:27331311] comment: Most individuals with lupus anticoagulant do not have lupus erythematosus or other systemic autoimmune disorders. One of the tests for lupus anticoagulant is the dilute Russell's viper venom time (dRVVT). is_a: HP:0030057 ! Autoimmune antibody positivity property_value: http://purl.org/dc/elements/1.1/date 2017-02-12T13:19:32Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025344 name: Interlobular bile duct destruction def: "Damage to and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts)." [PMID:16177252] comment: In primary biliary cirrhosis, interlobular bile duct destruction is immune mediated. is_a: HP:0011040 ! Abnormality of the intrahepatic bile duct property_value: http://purl.org/dc/elements/1.1/date 2017-02-12T13:44:46Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025345 name: Abnormality of circulating beta-2-microglobulin level def: "A deviation from the normal concentration of beta-2-microglobulin in the blood." [PMID:16166103] synonym: "Abnormality of circulating B2M level" EXACT HP:0045077 [] synonym: "Abnormality of circulating beta2 microglobulin level" EXACT [] synonym: "Abnormality of circulating beta2-m level" EXACT HP:0045077 [] synonym: "Abnormality of circulating beta2m level" EXACT HP:0045077 [] is_a: HP:0025465 ! Abnormal circulating beta globulin level property_value: http://purl.org/dc/elements/1.1/date 2017-02-12T13:50:53Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025346 name: Increased circulating beta-2-microglobulin level def: "Elevated concentration of beta-2-microglobulin in the blood." [] synonym: "Elevated circulating beta-2-microglobulin level" EXACT [] is_a: HP:0025345 ! Abnormality of circulating beta-2-microglobulin level property_value: http://purl.org/dc/elements/1.1/date 2017-02-12T13:53:51Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025347 name: Decreased circulating beta-2-microglobulin level def: "Reduced concentration of beta-2-microglobulin in the blood." [] synonym: "Reduced circulating beta-2-microglobulin level" EXACT [] is_a: HP:0025345 ! Abnormality of circulating beta-2-microglobulin level property_value: http://purl.org/dc/elements/1.1/date 2017-02-12T13:54:52Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025348 name: Abnormality of the corneal limbus def: "An anomaly of the margin of the cornea overlapped by the sclera." [] is_a: HP:0000481 ! Abnormal cornea morphology property_value: http://purl.org/dc/elements/1.1/date 2017-02-12T23:58:19Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025349 name: Limbal edema def: "Swelling of the margin of the cornea overlapped by the sclera." [] is_a: HP:0025348 ! Abnormality of the corneal limbus property_value: http://purl.org/dc/elements/1.1/date 2017-02-12T23:59:31Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025350 name: Giant conjunctival papillae def: "Conjunctival papillae with a diameter greater than 1 millimeter. They characteristically have flattened tops which sometimes demonstrate staining with fluorescein." [PMID:26278858] is_a: HP:0030946 ! Conjunctival papillae property_value: http://purl.org/dc/elements/1.1/date 2017-02-13T00:05:03Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025351 name: Recurrent interdigital mycosis def: "A history of repeated fungal infections located between the fingers or toes, usually manifested by scaling, maceration, and itching. The toes are more commonly affected than the fingers." [] synonym: "Recurrent interdigital tinea" EXACT [] is_a: HP:0002841 ! Recurrent fungal infections property_value: http://purl.org/dc/elements/1.1/date 2017-02-13T00:11:13Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025352 name: Autosomal dominant germline de novo mutation def: "Being related to a mutation that gamete that participates in fertilization. All cells of the emerging organism will be affected and the variant canl be passed on to the next generation." [] is_a: HP:0000006 ! Autosomal dominant inheritance property_value: http://purl.org/dc/elements/1.1/date 2017-02-13T00:19:00Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025353 name: Anti-multiple nuclear dots antibody positivity def: "A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells." [PMID:11882049] comment: Sp100 is the main antigenic target of MND reactivity. Anti-MND activity can be seen in primary biliary cirrhosis and in other conditions. synonym: "Anti-MND antibodies" EXACT HP:0045077 [] is_a: HP:0003493 ! Antinuclear antibody positivity property_value: http://purl.org/dc/elements/1.1/date 2017-02-13T00:25:10Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025354 name: Abnormal cellular phenotype def: "An anomaly of cellular morphology or physiology." [] is_a: HP:0000118 ! Phenotypic abnormality property_value: http://purl.org/dc/elements/1.1/date 2017-02-13T00:29:35Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025355 name: Retinal arterial macroaneurysms def: "Acquired focal dilatations of branches of the retinal artery, usually second-order retinal arterioles, that range in size from 100 to 200 micrometers in diameter. Macroaneurysms are generally located at the termporal retina and may be hemorrhagic or exudative." [] comment: Retinal arterial macroaneurysms can be visualized on fundoscopy and by fluorescein angiography or spectral-domain optical coherence tomography. is_a: HP:0000630 ! Abnormal retinal artery morphology property_value: http://purl.org/dc/elements/1.1/date 2017-02-13T00:33:08Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025356 name: Psychomotor retardation comment: A behavioral anomaly characterized by reduced mental and motor activity. Psychomotor retardation is a compound anomaly of behavior characterized by abnormalities of speech (Increased pauses, decreased volume, reduced articulation, reduced tone and infection, delayed response), eye movent (fized ganze and poor eye contact), gross movement (Decreased and/or slowed movement of hands, legs, torso, head), slumped posture, flat facial expression, and increased self-touching. {xref="PMID:21044654"} synonym: "Motormental retardation" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Psychomotor impairment" EXACT [https://orcid.org/0000-0001-5208-3432] synonym: "Psychomotor slowing" EXACT [https://orcid.org/0000-0001-5208-3432] is_a: HP:0000708 ! Behavioral abnormality property_value: http://purl.org/dc/elements/1.1/date 2017-02-17T11:43:42Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025357 name: Erratic myoclonus def: "A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous." [] comment: Erratic may appear immediately after birth.Definition adapted from The Epilepsies: Seizures, Syndromes and Management; Chapter 5: Neonatal Seizures and Neonatal Syndromes; NCBI Book NBK2599. synonym: "Fragmentary myoclonus" EXACT [] is_a: HP:0001336 ! Myoclonus property_value: http://purl.org/dc/elements/1.1/date 2017-02-17T12:01:58Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025358 name: Uveal ectropion def: "Presence of iris pigment epithelium on the anterior surface of the iris." [] synonym: "Ectropion uveae" EXACT [] is_a: HP:0000525 ! Abnormality iris morphology property_value: http://purl.org/dc/elements/1.1/date 2017-02-17T12:10:49Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025359 name: Polygonal renal calices def: "An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance)." [] synonym: "Polygonal calices" EXACT [] synonym: "Polygonal-shaped calices" EXACT [] is_a: HP:0011130 ! Abnormal renal calyx morphology property_value: http://purl.org/dc/elements/1.1/date 2017-02-17T12:14:46Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025360 name: Polycalycosis def: "Increased number of calices of the kidney." [PMID:19002724] is_a: HP:0011130 ! Abnormal renal calyx morphology property_value: http://purl.org/dc/elements/1.1/date 2017-02-17T12:17:58Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025361 name: Abnormality of medullary pyramid morphology def: "A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla." [] is_a: HP:0100957 ! Abnormal renal medulla morphology property_value: http://purl.org/dc/elements/1.1/date 2017-02-20T13:15:23Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025362 name: Renal medullary pyramid hypoplasia def: "Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla." [PMID:16293636] synonym: "Hypoplasia of the medullary pyramids" EXACT [] is_a: HP:0025361 ! Abnormality of medullary pyramid morphology property_value: http://purl.org/dc/elements/1.1/date 2017-02-20T13:16:42Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025363 name: Endocapillary hypercellularity def: "Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina." [PMID:19571790] comment: The endocapillary compartment of the glomerulus includes the endothelial cells, mesangial cells, and any leukocytes in the capillary lumens or mesangium. is_a: HP:0000095 ! Abnormality of renal glomerulus morphology property_value: http://purl.org/dc/elements/1.1/date 2017-02-20T13:33:20Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025364 name: Extracapillary hypercellularity def: "Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells." [] synonym: "Extracapillary glomerular hypercellularity" EXACT [] is_a: HP:0000095 ! Abnormality of renal glomerulus morphology property_value: http://purl.org/dc/elements/1.1/date 2017-02-20T14:07:24Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025367 name: Trichoepithelioma def: "A benign hair follicle tumor whose tumor cells form rudimentary hair follicles but not actual hair shafts. A trichoepithelioma is usually less than one centimeter, firm, round, and shihy with yellow, pink, brown, or bluish color. They may occur multiply, usually on the face, and may gradually increase in number with age." [] is_a: HP:0012843 ! Hair follicle neoplasm property_value: http://purl.org/dc/elements/1.1/date 2017-02-20T14:24:28Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025368 name: Abnormality of growth plate morphology def: "A structural anomaly of the growth plates (epiphyseal plates), areas of cartilage located near the ends of long bones that are located between the metaphysis (widened part of the shaft of the bone) and the epiphysis (end of the bone) and in which growth occurs in the developing bone. After conclusion of bone growth, the growth plates ossify (harden into solid bone)." [] is_a: HP:0011842 ! Abnormality of skeletal morphology property_value: http://purl.org/dc/elements/1.1/date 2017-02-20T14:32:08Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025369 name: Thick growth plates def: "Increased thickness (dimension along the axis of the bone) of the growth plate." [] is_a: HP:0025368 ! Abnormality of growth plate morphology property_value: http://purl.org/dc/elements/1.1/date 2017-02-20T14:40:12Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025370 name: Abnormal ossification of the sacrum def: "Abnormal bone tissue formation (ossification) affecting the sacrum." [] is_a: HP:0005107 ! Abnormal sacrum morphology property_value: http://purl.org/dc/elements/1.1/date 2017-02-20T14:45:33Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025371 name: Delayed ossification of the sacrum def: "Formation of the sacrum bone tissue occurs later than age-adjusted norms." [] is_a: HP:0025370 ! Abnormal ossification of the sacrum property_value: http://purl.org/dc/elements/1.1/date 2017-02-20T14:47:07Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025372 name: Loud snoring def: "Particularly loud snoring, snoring at high volume." [NCIT:C121601] synonym: "Has loud snoring" EXACT [] synonym: "Have loud snoring" EXACT [] synonym: "Heavy snoring" EXACT [] synonym: "Snores loudly" EXACT [] is_a: HP:0025267 ! Snoring property_value: http://purl.org/dc/elements/1.1/date 2017-03-15T11:53:28Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025373 name: Interictal EEG abnormality def: "Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge." [PMID:15961864, PMID:25012363] is_a: HP:0002353 ! EEG abnormality property_value: http://purl.org/dc/elements/1.1/date 2017-03-15T13:25:46Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025374 name: Duplicated odontoid process def: "The presence of two distinct odontoid processes. The odontoid process, also known as the dens of the axis, is a protuberance of the C2 vertebral body around which the first vertebra rotates." [] comment: The odontoid process forms from different ossification centers. Two centers normally appear on each side of the midline around the fifth or sixth month of fetal life. These two centers usually fuse by one year of age. When there is a delay in fusion, a longitudinal midline cleft may be seen. Duplication of the odontoid process most likely is the result of\na lack of fusion of these two centers of ossification [from PMID:9367321]. is_a: HP:0003310 ! Abnormality of the odontoid process property_value: http://purl.org/dc/elements/1.1/date 2017-04-08T13:00:41Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025375 name: Orthotopic os odontoideum def: "Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process.With dystopic os odontoideum, the ossicle is located near the basion or is fused with the clivus." [] is_a: HP:0005667 ! Os odontoideum property_value: http://purl.org/dc/elements/1.1/date 2017-04-08T13:10:36Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025376 name: Hyperglutaminuria def: "An increased concentration of glutamine in the urine." [PMID:11283793] synonym: "Glutaminuria" EXACT [] is_a: HP:0008353 ! Neutral hyperaminoaciduria property_value: http://purl.org/dc/elements/1.1/date 2017-04-08T13:20:10Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025377 name: Triggered by exertion def: "Applies to a sign or symptom that is provoked or brought about by exertion or physical exercise." [] comment: For convenience, several HPO terms exist with the phrase 'Exercise-induced' in their label. This is meant to be logically equvalent to the combination of the basis term and this modifier. synonym: "Exertion triggered symptoms" EXACT [] synonym: "Triggered by physical exercise" EXACT [] is_a: HP:0025204 ! Triggered by property_value: http://purl.org/dc/elements/1.1/date 2017-04-08T13:36:52Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025379 name: Anti-thyroid peroxidase antibody positivity def: "The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase." [] comment: Thyroid peroxidase (TPO) antibody positivity is found in most patients with chronic lymphocytic thyroiditis (Hashimoto disease) and over half of patients with Graves disease. is_a: HP:0030057 ! Autoimmune antibody positivity property_value: http://purl.org/dc/elements/1.1/date 2017-04-20T10:42:32Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025380 name: Increased serum androstenedione def: "Increased level of circulating 4-androstenedione." [] comment: 4-Androstenedione is the common precursor of the androgen and estrogen sex hormones and is produced in the adrenal glands and the gonads. is_a: HP:0030348 ! Increased circulating androgen level property_value: http://purl.org/dc/elements/1.1/date 2017-04-20T10:48:45Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025381 name: Anti-pituitary antibody positivity def: "Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function." [PMID:17341554] comment: The presence of autoantibodies (immunoglobulins) in the serum that react against pituitary tissue. is_a: HP:0030057 ! Autoimmune antibody positivity property_value: http://purl.org/dc/elements/1.1/date 2017-04-20T10:52:38Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025382 name: Hypodipsia def: "Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake." [PMID:25949488] is_a: HP:0030082 ! Abnormal drinking behavior property_value: http://purl.org/dc/elements/1.1/date 2017-04-20T11:10:08Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025383 name: Dorsocervical fat pad def: "An area of fat accumulation at the back of the neck in the form of a hump." [PMID:22301856] synonym: "Buffalo hump" EXACT layperson [] is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue property_value: http://purl.org/dc/elements/1.1/date 2017-04-21T11:39:02Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025384 name: Diet-resistant subcutaneous adipose tissue def: "Areas of subcutanous fat tissue that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery." [PMID:22301856] comment: In certain diseases such as multiple symmetric lipomatosis, lipedema and Dercum's disease, accumulation of subcutaneous adipose tissue may result from growth of an abnormal brown stem cell population or from vascular or lymphatic dysfunction, with the result that the subcutaneous adipose tissue is difficult or impossible to reduce by caloric limitation and increased energy expenditure. is_a: HP:0009124 ! Abnormal adipose tissue morphology property_value: http://purl.org/dc/elements/1.1/date 2017-04-21T11:45:42Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025385 name: Diet-resistant subcutaneous adipose tissue below waist def: "Areas of subcutanous fat tissue below the waist that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery." [] is_a: HP:0025384 ! Diet-resistant subcutaneous adipose tissue property_value: http://purl.org/dc/elements/1.1/date 2017-04-21T11:55:24Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025386 name: Bitemporal hollowing def: "Depression of profile in both temporal regions." [] is_a: HP:0000606 ! Abnormality of the periorbital region property_value: http://purl.org/dc/elements/1.1/date 2017-04-21T12:00:17Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025387 name: Pill-rolling tremor def: "A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other." [] comment: The name pill rolling derives from the movements that pharmacists made in earlier times when making pills by rolling them together. synonym: "Pill rolling" EXACT [] is_a: HP:0002322 ! Resting tremor property_value: http://purl.org/dc/elements/1.1/date 2017-04-21T12:11:32Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025388 name: Thyroid nodule def: "A nodular lesion that develops in the thyroid gland. The term \"thyroid nodule\" refers to any abnormal growth that forms a lump in the thyroid gland." [] comment: The vast majority of thyroid nodules are benign (noncancerous), but a small proportion of thyroid nodules do contain thyroid cancer. is_a: HP:0011772 ! Abnormality of thyroid morphology property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T11:06:53Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025389 name: Pulmonary interstitial high-resolution computed tomography abnormality def: "High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities." [PMID:23247773] synonym: "Pulmonary interstitiatial HRCT abnormality" EXACT HP:0045077 [] is_a: HP:0006530 ! Interstitial pulmonary abnormality is_a: HP:0031983 ! Abnormal pulmonary thoracic imaging finding property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T12:46:42Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025390 name: Reticular pattern on pulmonary HRCT def: "On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh." [PMID:23247773] comment: The constituents of the reticular pattern may be all or some of the following: interlobular septal thickening, intralobular interstitial thickening, wall cysts of honeycombing, peribronchovascular interstitial thickening and traction bronchiectasis/bronchiolectasis is_a: HP:0025389 ! Pulmonary interstitial high-resolution computed tomography abnormality property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T12:55:23Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025391 name: Crazy paving pattern on pulmonary HRCT def: "The so-called crazy paving pattern is characterised on HRCT by the presence of thickened interlobular septae and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones." [PMID:23247773] is_a: HP:0025389 ! Pulmonary interstitial high-resolution computed tomography abnormality property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T12:57:46Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025392 name: Nodular pattern on pulmonary HRCT def: "A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter." [PMID:23247773] is_a: HP:0025389 ! Pulmonary interstitial high-resolution computed tomography abnormality property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T12:59:43Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025393 name: Reticulonodular pattern on pulmonary HRCT def: "Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography." [PMID:23247773] is_a: HP:0025389 ! Pulmonary interstitial high-resolution computed tomography abnormality property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T13:02:17Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025394 name: Cystic pattern on pulmonary HRCT def: "On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema." [PMID:23247773] is_a: HP:0025389 ! Pulmonary interstitial high-resolution computed tomography abnormality property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T13:03:59Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025395 name: Combined cystic and ground-glass pattern on pulmonary HRCT def: "Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography," [PMID:23247773] is_a: HP:0025389 ! Pulmonary interstitial high-resolution computed tomography abnormality property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T13:05:42Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025396 name: Decreased attenuation pattern on pulmonary HRCT def: "Areas of low density corresponding to parenchymal destruction and reduced perfusion, and attenuation of the pulmonary vasculature, as visualized on pulmonary high-resolution computed tomography." [PMID:23247773] synonym: "Black lung pattern on pulmonary HRCT" EXACT [] is_a: HP:0025389 ! Pulmonary interstitial high-resolution computed tomography abnormality property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T13:08:16Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025397 name: Mosaic attenuation pattern on pulmonary HRCT def: "A patchwork of intermingled areas of increased and decreased attenuation visualized on pulmonary high-resolution computed tomography." [PMID:23247773] comment: Mosaic attenuation pattern may represent patchy interstitial disease, obliterative small airways disease, or occlusive small vascular disease. is_a: HP:0025389 ! Pulmonary interstitial high-resolution computed tomography abnormality property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T13:10:01Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025398 name: Nodular-perilymphatic pattern on pulmonary HRCT def: "A nodular pattern on pulmonary high-resolution computed tomography that has a perilymphatic distribution." [PMID:23247773] is_a: HP:0025392 ! Nodular pattern on pulmonary HRCT property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T13:12:36Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025399 name: Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT def: "A nodular pattern on pulmonary high-resolution computed tomography that displays a tree-in-bud pattern, representing centrilobular branching structures that resemble a budding tree." [PMID:23247773] comment: The pattern reflects a spectrum of endobronchiolar and peribronchiolar disorders, including mucoid impaction, inflammation, fibrosis and occasionally endovascular disorders such as neoplastic processes. is_a: HP:0025392 ! Nodular pattern on pulmonary HRCT property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T13:13:21Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025400 name: Nodular-random pattern on pulmonary HRCT def: "A nodular pattern on pulmonary high-resolution computed tomography that has an apparently random pattern." [PMID:23247773] comment: Miliary tuberculosis and miliary metastasis are two diseases entities that can be characterized by a ranom nodular pattern on pulmonary HRCT. is_a: HP:0025392 ! Nodular pattern on pulmonary HRCT property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T13:13:45Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025401 name: Staring gaze def: "An abnormality in which the eyes are held permanently wide open." [PMID:22675666] comment: This is a neurological anomaly that can be observed in Parkinson and certain other diseases. synonym: "Staring eyes" EXACT [] is_a: HP:0012373 ! Abnormal eye physiology property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T14:03:28Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025402 name: Square-wave jerks def: "Square wave jerks are saccadic eye movements which, when recorded with open eyes are considered to be a pathological sign, caused by fixation instability, and pointing to a central neurological lesion." [PMID:6443573] is_a: HP:0032114 ! Saccadic intrusion property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T14:07:11Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025403 name: Stooped posture def: "A habitual positioning of the body with the head and upper back bent forward." [] is_a: HP:0100022 ! Abnormality of movement property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T14:18:27Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025404 name: Abnormal visual fixation def: "Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location." [] is_a: HP:0000496 ! Abnormality of eye movement property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T14:29:49Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025405 name: Visual fixation instability def: "A deficit in the ability to fixate eye movements in order to stabilize images on the retina" [] synonym: "Instability of ocular fixation" EXACT [] is_a: HP:0025404 ! Abnormal visual fixation property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T14:31:07Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025406 name: Asthenia def: "A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body." [] comment: Asthenia is to be distinguished from fatigue, because asthenia refers to a sensation of exhaustion which occurs before any effort. Asthenia is to be distinguished from myasthenia, which means a specific weakness of one or more muscles. is_a: HP:0025142 ! Constitutional symptom property_value: http://purl.org/dc/elements/1.1/date 2017-04-22T14:48:03Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025407 name: Rectourethral fistula def: "An abnormal connection (fistula) between the rectum and the urethra." [] synonym: "Urethrorectal fistula" EXACT [] is_a: HP:0010480 ! Urethral fistula is_a: HP:0100590 ! Rectal fistula property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T10:24:54Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025408 name: Abnormal spleen morphology def: "Any anomaly of the structure of the spleen." [] is_a: HP:0001743 ! Abnormality of the spleen property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T10:55:52Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025409 name: Abnormal spleen physiology def: "Any anomaly of the function of the spleen." [] is_a: HP:0001743 ! Abnormality of the spleen property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T10:56:59Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025410 name: Splenogonadal fusion def: "Joining of the spleen and a gonad during embryological development." [PMID:24137272] comment: The spleen is located in close proximitiy to the gonads during early embryological development, which may facilitate fusion. Splenogonadal fusion may be divided into continuous or discontinuous types, with the gonad being directly attached to the spleen in the continuous type . The discontinuous type consists of gonadal fusion with an accessory spleen or ectopic splenic tissue. is_a: HP:0000812 ! Abnormal internal genitalia is_a: HP:0025408 ! Abnormal spleen morphology property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T10:58:17Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025413 name: Fossa navicularis urethral stricture def: "A type of urethral stricture affecting the fossa navicularis, which is the spongy part of the male urethra located at the glans penis." [PMID:22022062] comment: The fossa navicularis is the small normal dilatation of the distal penile urethra. is_a: HP:0012227 ! Urethral stricture property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T11:16:18Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025414 name: Pendulous urethral stricture def: "A type of urethral stricture affecting the pendulous urethra, which is straight and fixed to the corpora cavernosa." [PMID:22022062] is_a: HP:0012227 ! Urethral stricture property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T11:17:06Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025415 name: Bulbar urethral stricture def: "A type of urethral stricture affecting the bulbar urethra, which is the part of the urethra that traverses the root of the penis." [] is_a: HP:0012227 ! Urethral stricture property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T11:17:53Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025416 name: Vaginal stricture def: "A narrowing of the vagina owing to scar formation." [] is_a: HP:0000142 ! Abnormal vagina morphology property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T11:24:25Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025417 name: Patulous urethra def: "Urethra more open or expanded than normal." [] is_a: HP:0000795 ! Abnormality of the urethra property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T11:39:39Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025418 name: Renal cortical necrosis def: "Death of tissue in the outer part of the kidney." [] comment: Renal cortical necrosis is a type of actue kidney injury that results from insufficient perfusion of the renal cortex. The diagnosis can be confirmed by computed tomography angiography and in some cases biopsy. synonym: "Necrosis of the kidney cortex" EXACT [] is_a: HP:0011035 ! Abnormal renal cortex morphology property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T11:45:23Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025419 name: Pulmonary pneumatocele def: "An air-filled cystic space within a lung." [] synonym: "Pulmonary pneumatocoele" EXACT HP:0045076 [] is_a: HP:0032445 ! Pulmonary cyst property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T11:52:30Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025420 name: Diffuse alveolar hemorrhage def: "A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen." [PMID:23678356] comment: Diffuse alveolar hemorrhage is a life-threatening and medical emergency that can be caused by numerous disorders and presents with hemoptysis, anemia, and diffuse alveolar infiltrates. synonym: "Diffuse alveolar haemorrhage" EXACT HP:0045076 [] is_a: HP:0040223 ! Pulmonary hemorrhage property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T12:16:52Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025421 name: Pneumomediastinum def: "The presence of free air in the mediastinum." [PMID:28217437] comment: Spontaneous pneumomediastinum (SPM) is defined as the non-traumatic presence of free air in the mediastinum in a patient with no known underlying disease. The most common etiology for SPM is alveolar rupture, most commonly due to an asthma exacerbation, but also seen with barotrauma, intrathoracic pressure increase, the valsalva maneuver, and withdrawal symptoms of illicit drugs. Other causes of pneumomediastinum include coughing, mechanical ventilation, pneumonitis, emphysema, lung fibrosis, acute respiratory distress syndrome, heroin, marijuana, cocaine use, gas producing infections in the head and neck, tracheobronchial or esophageal rupture and facial fractures that lead to disruption of maxillary sinus walls. is_a: HP:0045026 ! Abnormality of the mediastinum property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T12:21:33Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025422 name: Pleural cyst def: "A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance." [PMID:12162234, PMID:18493546] comment: Pleuropericardial cysts usually are congenital anomalies. after the third week of gestation, the mesoderm separates itself to form pleural, pericardial and peritoneal spaces. Incomplete partitioning can result in a pleuropericardial cyst. is_a: HP:0002103 ! Abnormality of the pleura property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T12:33:15Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025423 name: Abnormal larynx morphology def: "Any anomaly of the structure of the larynx." [] is_a: HP:0001600 ! Abnormality of the larynx property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T12:44:49Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025424 name: Abnormal larynx physiology def: "Any anomaly of the function of the larynx." [] is_a: HP:0001600 ! Abnormality of the larynx property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T12:46:36Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025425 name: Laryngospasm def: "A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe." [] is_a: HP:0025424 ! Abnormal larynx physiology property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T12:48:07Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025426 name: Abnormal bronchus morphology alt_id: HP:0002109 def: "Any anomaly of the morphology of the bronchi." [] synonym: "Abnormality of the bronchi" EXACT [] is_a: HP:0005607 ! Abnormal tracheobronchial morphology property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T12:50:43Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025427 name: Abnormal bronchus physiology def: "Any anomaly of the function of the bronchi." [] is_a: HP:0002795 ! Functional respiratory abnormality property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T12:51:32Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025428 name: Bronchospasm def: "A spasm (sudden, involuntary constriction) of the bronchioles." [] is_a: HP:0025427 ! Abnormal bronchus physiology property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T12:52:53Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025429 name: Abnormal cry def: "Any anomaly of the vocalizing of an infant's crying, i.e.,the typically loud voice production that is accompanied by tears and agitation." [] is_a: HP:0001608 ! Abnormality of the voice property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T12:56:52Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025430 name: High-pitched cry def: "A type of crying in an abnormally high-pitched voice." [] comment: This type of cry may be observed with cerebral irritability due to factors such as meningitis, hydrocephalus, or kernicterus. High-pitched cry may also be observed with other conditions including Cornelia-de-Lange syndrome. is_a: HP:0025429 ! Abnormal cry property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T12:59:43Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025431 name: Staccato cry def: "A type of cry that is abnormal because it is consists of unusually shortened and detached vocalizations." [] is_a: HP:0025429 ! Abnormal cry property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T13:07:13Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025432 name: Acanthoma def: "A benign epithelial skin tumor manifesting as a slightly elevated circular plaque or nodule with a red, pink or brown color and a diameter up to 22 mm." [] is_a: HP:0008069 ! Neoplasm of the skin property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T15:58:05Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025433 name: Decreased lecithin cholesterol acyl transferase activity def: "Reduced activity of the enzyme lecithin cholesterol acyl transferase." [PMID:25172171] comment: Lecithin cholesterol acyl transferase (LCAT) is a plasma enzyme which esterifies cholesterol, and plays a key role in the metabolism of high-density lipoprotein cholesterol (HDL-C). is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T16:31:33Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025434 name: Reduced hemolytic complement activity def: "A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum." [PMID:20351687] comment: Individual complement components can be quantified however this does not provide any information as to the activity of the pathway. The CH50 is a screening assay for the activation of the classical complement pathway and it is sensitive to the reduction, absence and/or inactivity of any component of the pathway. The CH50 tests the functional capability of serum complement components of the classical pathway to lyse sheep red blood cells (SRBC) pre-coated with rabbit anti-sheep red blood cell antibody (haemolysin). When antibody-coated SRBC are incubated with test serum, the classical pathway of complement is activated and haemolysis results. If a complement component is absent, the CH50 level will be zero; if one or more components of the classical pathway are decreased, the CH50 will be decreased. is_a: HP:0005339 ! Abnormality of complement system property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T16:53:06Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025435 name: Increased lactate dehydrogenase activity def: "An elevated activity of the enzyme lactate dehydrogenase in serum." [] comment: Lactate dehydrogenase catalyzes the interconversion of lactate and pyruvate. is_a: HP:0045040 ! Abnormal lactate dehydrogenase activity property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T17:11:02Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025436 name: Elevated serum 11-deoxycortisol def: "Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone." [] synonym: "Elevated serum 21-hydroxyprogesterone" EXACT [] synonym: "Elevated serum deoxycorticosterone" EXACT [] is_a: HP:0003118 ! Increased circulating cortisol level property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T17:22:34Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025437 name: Macrocephalic sperm head def: "Increased size of the head of sperm." [PMID:16500351] is_a: HP:0012865 ! Sperm head anomaly property_value: http://purl.org/dc/elements/1.1/date 2017-04-23T17:25:02Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025439 name: Pharyngitis def: "Inflammation (due to infection or irritation) of the pharynx." [] synonym: "Swollen throat" EXACT layperson [http://www.livestrong.com/article/153098-a-sore-and-swollen-throat/] is_a: HP:0000600 ! Abnormality of the pharynx property_value: http://purl.org/dc/elements/1.1/date 2017-04-24T00:03:24Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025440 name: Warm reactive autoantibody positivity def: "Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C." [PMID:15491963] comment: Warm reactive antibodies react with the patients own RBCs and typically bind to all reagent or donor RBCs against which they are tested. However, they sometimes have specificity (absolute or relative) for a blood group antigen, most commonly a member of the Rh blood group system. Warm reactive autoantibodies are usually polyclonal IgG antibodies, although IgA or monomeric IgM antibodies are seen occasionally. is_a: HP:0030057 ! Autoimmune antibody positivity property_value: http://purl.org/dc/elements/1.1/date 2017-04-24T00:16:58Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025441 name: Achilles tendon calcification def: "Ectopic deposition of calcium salts in the Achilles tendon." [] synonym: "Calcification of the Achilles tendon" EXACT [] is_a: HP:0005109 ! Abnormality of the Achilles tendon property_value: http://purl.org/dc/elements/1.1/date 2017-04-24T00:51:04Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025443 name: Abnormal cardiac atrial physiology def: "An abnormality of the function of the cardiac atria." [] is_a: HP:0011025 ! Abnormal cardiovascular system physiology property_value: http://purl.org/dc/elements/1.1/date 2017-04-29T17:10:13Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025444 name: Reduced amygdala volume def: "A decrease in the volume (size) of the amygdyla." [] synonym: "Decrease in amygdala volume" EXACT [] is_a: HP:0007343 ! Abnormal morphology of the limbic system property_value: http://purl.org/dc/elements/1.1/date 2017-04-29T21:34:14Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025445 name: Morphological abnormality of the papillary muscles def: "Any structural anomaly of the papillary muscles of the left ventricle." [PMID:9034636] comment: There are normally two papillary muscles. The antero-lateral papillary muscle is located in the apical third of the ventricular wall, and the postero-medial papillary muscle is located in the middle third of the ventricular wall. The antero-lateral papillary muscle is usually composed of one body or head, and the postero-medial papillary muscle usually with two bodies or heads. Each papillary muscle provides chordae to both leaflets of the mitral valve, with one of the major functions of the papillary muscles being to prevents prolapse of anterior and posterior cusps of mitral valve during systole. is_a: HP:0001711 ! Abnormal left ventricle morphology property_value: http://purl.org/dc/elements/1.1/date 2017-04-30T10:43:49Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025446 name: Anomalous insertion of papillary muscle directly into anterior mitral leaflet def: "A congenital malformation in which one or both of the papillary muscles (posteromedial or anterolateral) insert directly (that is, without interpositioned chordae tendineae) into the anterior mitral leaflet." [PMID:1884449] comment: This malformation consists of a direct continuity between a hypertrophied papillary muscle and the anterior mitral leaflet (Normally, the papillary muscle is connected to the leaflet via the chordae tendinae). Themalformation can be identified echocardiographically. It results in a long rigid area of mid-cavity narrowing that in turn can cause left ventricular outflow tract obstruction. is_a: HP:0025445 ! Morphological abnormality of the papillary muscles property_value: http://purl.org/dc/elements/1.1/date 2017-04-30T10:50:30Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025447 name: Displacement of the papillary muscles def: "Abnormal location of the insertion of a papillary muscle into the left ventricular wall." [] is_a: HP:0025445 ! Morphological abnormality of the papillary muscles property_value: http://purl.org/dc/elements/1.1/date 2017-04-30T10:59:28Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025448 name: Anterior displacement of the papillary muscles def: "Abnormally anterior location of the papillary muscles of the left ventricle." [PMID:7850958] comment: Possible mechanisms for systolic anterior motion with anterior displacement of the papillary muscles (PM): (1) the normal posterior component of PM tension is reduced by anterior displacement of the muscle tips; (2) interposing the leaflets into the streamlines of flow causes drag forces with an anterior component; and (3) pulling up the posterior leaflet so that it meets the anterior leaflet closer to its base creates a long, overlapping residual leaflet, as seen clinically. This leaflet portion is relatively free to move anteriorly, unlike the coapted leaflet bodies that are restrained by the balance of ventricular and atrial pressures acting across them. The angle between the posterior leaflet and posterior wall is increased [PMID:7850958]. synonym: "Anteriorly displaced papillary muscles" EXACT [] is_a: HP:0025447 ! Displacement of the papillary muscles property_value: http://purl.org/dc/elements/1.1/date 2017-04-30T11:00:35Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025449 name: Apically displaced anterolateral papillary muscle def: "Abnormal location of the insertion of the anterolateral papillary muscle near to the apex of the left ventricle. This feature may be appreciated by noting that this muscle is usually not seen in the apical level of the parasternal short-axis echocardiographic view," [] synonym: "Apically displaced papillary muscles" EXACT [] is_a: HP:0025447 ! Displacement of the papillary muscles property_value: http://purl.org/dc/elements/1.1/date 2017-04-30T11:02:45Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025451 name: Testicular adrenal rest tumor def: "Testicular adrenal rest tumor (TART) isa abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm." [pmid:19956703] is_a: HP:0010788 ! Testicular neoplasm property_value: http://purl.org/dc/elements/1.1/date 2017-05-04T10:21:37Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025452 name: Pyoderma gangrenosum def: "A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat's paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer." [PMID:16858047] comment: Pyoderma gangrenosum can occur on any skin surface, but is most commonly seen on the legs. Patients are often systemically unwell with symptoms such as fever, malaise, arthralgia, and myalgia. Lesions are usually painful and the pain can be severe. When the lesions heal the scars are often cribriform. About half of the cases are associated with underlying systemic conditions, such as inflammatory bowel disease, arthritis, and haematological malignancies. is_a: HP:0200042 ! Skin ulcer property_value: http://purl.org/dc/elements/1.1/date 2017-05-04T10:30:38Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025453 name: Delayed adrenarche def: "Occurence of adrenarche at a later than normal age. Adrenarche normally occurs between six and eight years of age with increased adrenal androgen secretion; its exact biologic role is not well understood. It is accompanied by changes in pilosebaceous units, a transient growth spurt and the appearance of axillary and pubic hair in some children, but no sexual development." [PMID:10414639] is_a: HP:0000823 ! Delayed puberty property_value: http://purl.org/dc/elements/1.1/date 2017-05-04T10:41:47Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025454 name: Abnormal CSF metabolite level def: "Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid." [] is_a: HP:0002921 ! Abnormality of the cerebrospinal fluid property_value: http://purl.org/dc/elements/1.1/date 2017-05-05T10:24:32Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025455 name: Decreased CSF 5-hydroxyindolacetic acid def: "CSF 5-HIAA (5-hydroxyindolacetic acid) level is below the lower limit of normal." [ORCID:0000-0003-0169-8159, PMID:27388694] synonym: "Decreased CSF 5-HIAA" EXACT HP:0045077 [] synonym: "Low CSF 5-HIAA" EXACT HP:0045077 [] synonym: "Low CSF 5-hydroxyindolacetic acid" EXACT [] is_a: HP:0025454 ! Abnormal CSF metabolite level property_value: http://purl.org/dc/elements/1.1/date 2017-05-05T10:26:09Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025456 name: Abnormal CSF protein level def: "Any deviation from the normal range of a protein concentration in the cerebrospinal fluid." [] is_a: HP:0002921 ! Abnormality of the cerebrospinal fluid property_value: http://purl.org/dc/elements/1.1/date 2017-05-05T10:32:59Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025457 name: Decreased CSF protein def: "CSF total protein level is below the lower limit of normal." [ORCID:0000-0003-0169-8159, PMID:27388694] synonym: "Decreased cerebrospinal fluid total protein" EXACT [] synonym: "Hypoproteinorrhachia" EXACT [] synonym: "Low CSF total protein" EXACT HP:0045077 [] is_a: HP:0025456 ! Abnormal CSF protein level property_value: http://purl.org/dc/elements/1.1/date 2017-05-05T10:34:12Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025458 name: Decreased CSF albumin concentration synonym: "CSF albumin level is below the lower limit of normal." EXACT [ORCID:0000-0003-0169-8159, PMID:27388694] synonym: "Low CSF albumin" EXACT HP:0045077 [] is_a: HP:0500238 ! Abnormal CSF albumin concentration property_value: http://purl.org/dc/elements/1.1/date 2017-05-05T10:46:15Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025459 name: Increased CSF/serum albumin ratio def: "An increase above normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration." [] is_a: HP:0030981 ! Abnormal CSF/serum albumin ratio property_value: http://purl.org/dc/elements/1.1/date 2017-05-05T10:50:18Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025460 name: High myoinositol in brain by MRS def: "An elevated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS)." [ORCID:0000-0003-0169-8159, PMID:20951217] comment: Myo-Inositol (MI) is one of the most abundant metabolites in the human brain located mainly in glial cells and functions as an osmolyte. The concentration of MI is altered in many brain disorders including Alzheimer's disease and brain tumors. synonym: "High myo-inositol in brain by MRS" EXACT [] is_a: HP:0012705 ! Abnormal metabolic brain imaging by MRS property_value: http://purl.org/dc/elements/1.1/date 2017-05-05T10:59:49Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025461 name: Abnormal cell morphology def: "Any anomaly of cell structure." [] is_a: HP:0025354 ! Abnormal cellular phenotype property_value: http://purl.org/dc/elements/1.1/date 2017-05-07T11:14:54Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025462 name: obsolete Abnormal cellular physiology property_value: http://purl.org/dc/elements/1.1/date 2017-05-07T11:16:16Z xsd:dateTime is_obsolete: true replaced_by: HP:0011017 [Term] id: HP:0025463 name: Abnormality of redox activity def: "An abnormality of the processes that maintain the redox environment of a cell or compartment within a cell, that is, the balance between reduction and oxidation chemical reactions." [] is_a: HP:0011017 ! Abnormal cellular physiology property_value: http://purl.org/dc/elements/1.1/date 2017-05-07T11:17:15Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025464 name: Increased reactive oxygen species production def: "An accumulation of free radical groups in the body inadequately neutralized by antioxidants, which creates a potentially unstable and damaging cellular environment linked to tissue damage." [PMID:26950655] synonym: "Increased ROS production" EXACT HP:0045077 [] synonym: "Oxidative stress" RELATED [] is_a: HP:0025463 ! Abnormality of redox activity property_value: http://purl.org/dc/elements/1.1/date 2017-05-07T11:19:52Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025465 name: Abnormal circulating beta globulin level def: "A deviation from the normal concentration of beta globulin. The beta globulins are a group of globular (globe-shaped) proteins in blood." [] comment: The name beta globulin comes from the fact that protein electrophoresis of serum proteins results in a characteristic pattern of albumins, alpha, beta, and gamma globulins. is_a: HP:0032179 ! Abnormal circulating globulin level property_value: http://purl.org/dc/elements/1.1/date 2017-05-07T11:35:19Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025466 name: Beta 2-microglobulinuria def: "Increased level of beta 2-microglobulins in the urine." [] is_a: HP:0000093 ! Proteinuria property_value: http://purl.org/dc/elements/1.1/date 2017-05-07T11:50:10Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025469 name: Anagen effluvium def: "An abnormal loss of anagen (growth phase) hairs." [PMID:28332382] comment: Anagen effluvium is the result of a disturbance of proliferative activity of hair follicle matrix cells, which leads to the narrowing and subsequent breakage of the proximal portion of hair shafts. This type of hair loss can be caused by systemic chemotherapy or by radiotherapy to the head. is_a: HP:0011362 ! Abnormal hair quantity property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T11:20:58Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025470 name: Telogen effluvium def: "A type of hair loss characterized by an abnormal increase in dormant, telogen stage hair follicles." [] is_a: HP:0011362 ! Abnormal hair quantity property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T11:23:33Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025471 name: Congenital panfollicular nevus def: "A hamartomatous proliferation containing malformed hair follicles in various stages of development. Panfolliculomas are well-circumscribed lesions demonstrating all stages of follicular differentiation." [PMID:26822169] is_a: HP:0003764 ! Nevus property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T11:57:54Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025472 name: Recurrent plantar mycosis def: "A history of repeated fungal infections located on the sole of the foot, usually manifested by scaling, maceration, and itching." [] is_a: HP:0002841 ! Recurrent fungal infections property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T12:31:56Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025473 name: Hyperpigmented papule def: "A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin." [] is_a: HP:0200034 ! Papule property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T12:34:40Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025474 name: Erythematous plaque def: "A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation." [] synonym: "Violaceous plaque" RELATED [] is_a: HP:0200035 ! Skin plaque property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T12:38:07Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025475 name: Erythematous macule def: "A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation." [] comment: Numerous tones of red ranging from pink to violaceous are subsumed under the category of erythematous. is_a: HP:0012733 ! Macule property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T12:43:04Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025476 name: Testicular lipomatosis def: "Multiple foci of adipocytes within the testicular interstitium, usually presenting as multiple bilateral ill-defined hyperechoic intratesticular lesions of different sizes but generally with maximum diameter of 4 mm." [] comment: Testicular lipomatosis may be a sign of Cowden disease. is_a: HP:0000035 ! Abnormal testis morphology property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T12:49:41Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025477 name: Periarticular calcification def: "Calcified deposits in soft tissue structures outside a joint." [] is_a: HP:0010766 ! Ectopic calcification property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T13:23:02Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025478 name: Atrial standstill def: "Atrial standstill or silent atrium is a rare condition presenting with the absence of electrical and mechanical activity in the atria. It presents with the absence of P waves, bradycardia, and wide QRS complex in the electrocardiogram." [PMID:23074623] synonym: "Silent atrium" EXACT [] is_a: HP:0005115 ! Supraventricular arrhythmia property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T13:28:03Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025479 name: Self-neglect def: "Neglecting one's own needs and well-being." [PMID:24369074] is_a: HP:0000708 ! Behavioral abnormality property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T13:39:41Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025480 name: Lipomyelomeningocele def: "A type of spinal dysraphism presenting as a subcutaneous fatty mass, that is, a spinal defect associated with lipomatous tissue, and covered by skin. The most usual location for lipomyelomeningocele is at the gluteal cleft." [] is_a: HP:0002475 ! Myelomeningocele property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T13:52:18Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025481 name: Cervical hemivertebrae def: "Absence of one half of the vertebral body in the cervical spine." [] is_a: HP:0002937 ! Hemivertebrae property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T13:58:48Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025482 name: Positive perchlorate discharge test def: "An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficinet time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate dischanrge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid." [PMID:25394566] comment: Individuals with Pendred syndrome may show a positive perchlorate discharge test. is_a: HP:0002926 ! Abnormality of thyroid physiology property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T16:04:53Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025483 name: Abnormal circulating thyroglobulin level def: "A deviation from the normal concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones." [] is_a: HP:0010876 ! Abnormal circulating protein level property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T16:14:10Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025484 name: Increased circulating thyroglobulin level def: "An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones." [] is_a: HP:0025483 ! Abnormal circulating thyroglobulin level property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T16:15:57Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025485 name: Vaginal adenosis def: "Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life." [PMID:9764164] comment: Spontaneous vaginal adenosis appears to be a fairly common (present in about 10% of adult women) but mostly insignificant coincidental finding. In women prenatally exposed to diethylstilboestrol (DES), vaginal adenosis may arise in up to 90% and is associated with a high risk of vaginal carcinoma. is_a: HP:0000142 ! Abnormal vagina morphology property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T16:40:27Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025486 name: Fused labia majora def: "The outer labia are sealed together." [] is_a: HP:0012881 ! Abnormality of the labia majora property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T17:00:54Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025487 name: Abnormality of bladder morphology def: "Any structural anomaly of the bladder." [] is_a: HP:0000014 ! Abnormality of the bladder property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T17:07:03Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025488 name: Detrusor sphincter dyssynergia def: "A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation." [PMID:26904418] comment: Detrusor sphincter dyssynergia (DSD) is associated with neurologic conditions such as spinal cord injury, multiple sclerosis, and spina bifida and some of these neurogenic bladder patients with DSD may be at risk for autonomic dysreflexia, recurrent urinary tract infections, or upper tract compromise if the condition is not followed and treated appropriately. It is diagnosed most commonly during the voiding phase of urodynamic studies using EMG recordings and voiding cystourethrograms, although urethral pressure monitoring could also potentially be used. is_a: HP:0000009 ! Functional abnormality of the bladder property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T17:09:10Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025489 name: Bladder duplication def: "A congenital anomaly characterized by the presence of two bladders." [PMID:25657554] is_a: HP:0025487 ! Abnormality of bladder morphology property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T17:16:59Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025490 name: Myocardial bridging def: "A congenital variant of a coronary artery in which a portion of an epicardial coronary artery (most frequently the middle segment of the left anterior descending artery) takes an intramuscular course." [PMID:25999138] comment: Myocardial bridging, in which a tunneled segment of the artery under the bridge of overlying myocardium frequently results in vessel compression during systole. While frequently asymptomatic, this condition in many cases may be responsible for adverse complications including angina, myocardial ischemia, acute coronary syndromes, left ventricular dysfunction, arrhythmias, and even sudden cardiac death. synonym: "Intramyocardial coronary artery course" EXACT [] is_a: HP:0011686 ! Abnormal coronary artery course property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T19:08:29Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025491 name: Venous stenosis def: "Narrowing of a vein due to intimal hyperplasia and fibrosis." [] comment: Venous stenosis can be secondary to placement of central venous catheters, pacemaker leads, hemodialysis catheters, prior radiation, trauma, or extrinsic compression by musculoskeletal structures. is_a: HP:0002624 ! Abnormal venous morphology property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T19:22:38Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025492 name: Microcoria def: "A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs." [PMID:25772937] is_a: HP:0000615 ! Abnormal pupil morphology is_a: HP:0007700 ! Ocular anterior segment dysgenesis property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T19:32:33Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025493 name: Palmoplantar erythema def: "Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin." [] is_a: HP:0010783 ! Erythema property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T19:34:38Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025494 name: Coated aorta def: "Regular circumferential periaortic fibrosis involving the whole aorta and leading to a coated aorta appearance on computed tomography scans" [PMID:25017251] comment: This feature is characteristic of Erdheim Chester disease. is_a: HP:0001679 ! Abnormal aortic morphology property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T19:37:34Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025495 name: Descending aorta hypoplasia def: "Significant luminal narrowing of a long segment of the descending aorta." [PMID:12368748, PMID:24516866] comment: Coarctation of the aorta is defined as significant luminal narrowing of the aorta that produces hemodynamically significant obstruction to the flow of blood. This process may affect a short isolated segment of the aorta or a longer and more diffuse segment. When longer segments of the aorta are narrowed, the term hypoplasia is often used. Much less common than segmental coarctation, aortic hypoplasia has been described in all portions of the thoracic and abdominal aorta. is_a: HP:0031934 ! Abnormal descending aorta morphology property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T19:49:11Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025496 name: Abnormal coronary artery physiology def: "Any anomaly of the function of a coronary artery." [] is_a: HP:0025323 ! Abnormal arterial physiology property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T19:58:27Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025497 name: Coronary artery spasm def: "A brief and sudden narrowing of a coronary artery." [PMID:19433770] comment: Severe chest pain, usually without physical effort and with a concurrent ECG showing transient ST elevation, is the key for the diagnosis of coronary artery spasm. synonym: "Coronary artery vasospasm" EXACT [] is_a: HP:0025496 ! Abnormal coronary artery physiology property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T19:58:57Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025498 name: Aceruloplasminemia def: "Absence of ceruloplasmin in the blood." [] synonym: "Aceruloplasminaemia" EXACT HP:0045076 [] is_a: HP:0010876 ! Abnormal circulating protein level property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T20:03:35Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025499 name: Class I obesity def: "Obesity with a body mass index of 30 to 34.9 kg per square meter." [] synonym: "Obesity grade 1" EXACT [] is_a: HP:0001513 ! Obesity property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T20:06:40Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025500 name: Class II obesity def: "Obesity with a body mass index of 35 to 39.9 kg per square meter." [] synonym: "Obesity grade 2" EXACT [] is_a: HP:0001513 ! Obesity property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T20:08:43Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025501 name: Class III obesity def: "Obesity with a body mass index of 40 kg per square meter or higher." [] synonym: "Obesity grade 3" EXACT [] is_a: HP:0001513 ! Obesity property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T20:09:17Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025502 name: Overweight def: "Increased body weight with a body mass index of 25-29.9 kg per square meter." [] is_a: HP:0004324 ! Increased body weight property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T20:12:36Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025503 name: Anomalous coronary artery arising from the opposite sinus def: "Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva." [PMID:27358682, PMID:28374180] comment: There are three sinus in the wall of the aorta just superior to the aortic semilunar valve. The right coronary artery normally arises from the right sinus of Valsalva (RSV) of the ascending aorta. The left main coronary artery (LMCA) normally arises from the left sinus of Valsava. The third sinus, the right posterior aortic sinus does not normally give rise to a coronary artery. is_a: HP:0011636 ! Abnormal coronary artery origin property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T22:28:08Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025505 name: Anomalous origin of the circumflex artery from the right sinus of Valsalva def: "The circumflex coronary artery originates from the right aortic sinus of Valsalva." [PMID:25104986] is_a: HP:0011636 ! Abnormal coronary artery origin property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T23:16:37Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025506 name: Coronary artery sandwich anomaly def: "Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva, with the additional feature that the artery passes between the two great arteries. This carries a risk of the artery being compressed by these two vessels," [PMID:24424336] comment: Further synonyms include Anomalous origin of the coronary artery from the opposite sinus of Valsalva with an interarterial course and Anomalous origin of the coronary artery from the wrong sinus of Valsalva with a proximal course between the aorta and pulmonary artery synonym: "Anomalous coronary artery with aortic origin and course between the great arteries" EXACT [] is_a: HP:0025503 ! Anomalous coronary artery arising from the opposite sinus property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T23:20:37Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025507 name: Yellow papule def: "A papule with yellow color." [] comment: The yellow color may be related to lipid accumulation such as xanthomata or sebaceous gland lesions. This term additionally includes lesions described as yellow-orange. synonym: "Yellow-orange papule" RELATED [] is_a: HP:0200034 ! Papule property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T23:29:49Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025508 name: Gottron's papules def: "Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints." [PMID:28058540] synonym: "Gottron papules" EXACT [] is_a: HP:0200034 ! Papule property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T23:39:07Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025509 name: Piezogenic pedal papules def: "Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum." [] is_a: HP:0200034 ! Papule property_value: http://purl.org/dc/elements/1.1/date 2017-05-14T23:43:34Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025510 name: Nevus spilus def: "A tan, regularly bordered patch with darker macules within the lesion." [] synonym: "Speckled lentiginous Nevus" EXACT [] is_a: HP:0003764 ! Nevus property_value: http://purl.org/dc/elements/1.1/date 2017-05-15T00:49:05Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025511 name: Nevus sebaceus def: "A solitary yellow-orange slightly raised plaque typically on scalp or face. The plaque typically thickens and becomes more verrucous or pebbly during childhood." [] is_a: HP:0003764 ! Nevus property_value: http://purl.org/dc/elements/1.1/date 2017-05-15T00:51:20Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025512 name: Skin-colored papule def: "A papule with the same color as the surrounding skin." [PMID:15686304] synonym: "Flesh-colored papule" EXACT [] is_a: HP:0200034 ! Papule property_value: http://purl.org/dc/elements/1.1/date 2017-05-15T01:07:06Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025513 name: Scleral rupture def: "Breakage of the sclera." [] comment: Scleral rupture may occur following trauma or may be observed with some types of Ehlers Danlos syndrome and other disorders. The rupture may be hidden by an intact conjunctiva. is_a: HP:0000591 ! Abnormal sclera morphology property_value: http://purl.org/dc/elements/1.1/date 2017-05-15T01:54:50Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025514 name: Morning glory anomaly def: "An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic." [] comment: The name of this anomaly derives from a perceived similarity of the anomaly to the morning glory flower. synonym: "Morning glory disc anomaly" EXACT [] synonym: "Morning glory optic disc" EXACT [] is_a: HP:0000587 ! Abnormality of the optic nerve property_value: http://purl.org/dc/elements/1.1/date 2017-05-15T02:00:59Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025515 name: Delayed thelarche def: "Later than normal development of the breasts." [] is_a: HP:0000823 ! Delayed puberty property_value: http://purl.org/dc/elements/1.1/date 2017-05-15T02:12:37Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025516 name: Coronary-pulmonary artery fistula def: "A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery." [PMID:24605242] is_a: HP:0011641 ! Coronary artery fistula property_value: http://purl.org/dc/elements/1.1/date 2017-05-16T01:14:11Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025517 name: Hypoplastic hippocampus def: "Underdevelopment of the hippocampus." [] synonym: "Small hippocampus" EXACT layperson [] synonym: "Underdeveloped hippocampus" EXACT [] is_a: HP:0025100 ! Abnormal morphology of the hippocampus property_value: http://purl.org/dc/elements/1.1/date 2017-05-16T22:42:57Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025518 name: Visual gaze preference def: "An abnormality of gaze that can be observed following an acute supranuclear cerebral lesion (e.g., stroke) that is characterized by an acute inability to direct gaze contralateral to the side of the lesion and is accompanied by a tendency for tonic deviation of the eyes toward the side of the lesion." [] comment: With visual gaze preference due to an acute supranuclear cerebral lesion, the oculocephalic reflex (which can be elicited by the so called Doll's head manoeuvre) is intact. The head is briskly turned from side to side with the head held briefly at the end of each turn. If the brainstem and infranuclear pathways are intact, then the eyes rotate to the opposite side to the direction of head rotation. Stroke is the most common etiology of this finding. is_a: HP:0000496 ! Abnormality of eye movement property_value: http://purl.org/dc/elements/1.1/date 2017-05-17T01:15:33Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025519 name: Multiple biliary hamartomas def: "Multiple biliary hamartomas are a rare clinicopathologic entity, consisting of small (less than 1.5cm), usually multiple and nodular cystic lesions in the liver." [PMID:22110302] comment: Multiple biliary hamartomas are part of the wider spectrum of ductal plate malformation where there is congenital malformation of the biliary duct. Multiple biliary hamartomas can be diagnosed using magnetic resonance imaging which shows multiple hyper-intense cystic nodules not communicating with the biliary tree. The diagnosis can be confirmed on liver histology. Multiple biliary hamartomas are usually an incidental finding without symptoms. There have been rare associations with development of cholangiocarcinoma. synonym: "Biliary hamartoma" RELATED [] synonym: "Multiple bile duct hamartomas" EXACT [] synonym: "Von Meyenburg complexes" EXACT [] is_a: HP:0100574 ! Biliary tract neoplasm property_value: http://purl.org/dc/elements/1.1/date 2017-05-17T12:34:24Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025520 name: Calcinosis cutis def: "Deposition of calcium in the skin." [] comment: The lesions observed incalcinosis cutis are firm papules, plaues, or nodules that have a whitish or yellowish color. Lesions may be solitary but it is more common to observe multiple lesions. The lesions may develop ulceration with a discharge of a chalk-like substance. The lesions can be painful, espcially if they are located on the fingertips. Lesions at other sites may limit joint mobility or stiffen the skin. synonym: "Cutaneous calcification" EXACT [] is_a: HP:0010766 ! Ectopic calcification property_value: http://purl.org/dc/elements/1.1/date 2017-05-17T22:39:47Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025521 name: Increased body fat percentage def: "The percentage of fat as a part of total body weight above the norm, usually defined as 32% for females and 25% for males." [] is_a: HP:0001507 ! Growth abnormality property_value: http://purl.org/dc/elements/1.1/date 2017-05-17T22:56:46Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025522 name: Elongated chordae tendinae of the mitral valve def: "Abnormal increased in length of the chordae tendinae of the mitral valve." [] is_a: HP:0025523 ! Abnormal morphology of the chordae tendinae of the mitral valve property_value: http://purl.org/dc/elements/1.1/date 2017-05-17T23:42:26Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025523 name: Abnormal morphology of the chordae tendinae of the mitral valve def: "A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve." [PMID:23304176] is_a: HP:0001633 ! Abnormal mitral valve morphology property_value: http://purl.org/dc/elements/1.1/date 2017-05-17T23:44:02Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025524 name: Palmoplantar scaling skin def: "Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot." [] synonym: "Palmoplantar psoriasis" RELATED [] is_a: HP:0040189 ! Scaling skin property_value: http://purl.org/dc/elements/1.1/date 2017-05-17T23:50:31Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025525 name: Scaling skin on fingertip def: "Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips." [] is_a: HP:0040189 ! Scaling skin property_value: http://purl.org/dc/elements/1.1/date 2017-05-17T23:53:56Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025526 name: Psoriasiform lesion def: "A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus." [] synonym: "Erythemato-squamous plaque" RELATED [] synonym: "Erythematosquamous plaque" RELATED [] synonym: "Psoriatic-like lesion" EXACT [] is_a: HP:0040189 ! Scaling skin property_value: http://purl.org/dc/elements/1.1/date 2017-05-17T23:58:25Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025527 name: Serpiginous cutaneous lesion def: "A skin lesion with a snake- or serpent-like distribution." [] synonym: "Serpiginous eruption" EXACT [] is_a: HP:0011355 ! Localized skin lesion property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T00:05:10Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025528 name: Annular cutaneous lesion def: "A lesion of the skin with a ring-like distribution." [] is_a: HP:0011355 ! Localized skin lesion property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T00:14:03Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025529 name: Hyperpigmented nodule def: "A nodule of the skin that exhibits an increased amount of pigmentation." [] is_a: HP:0200036 ! Skin nodule property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T00:19:15Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025530 name: Xanthomas of the palmar creases def: "The presence of multiple xanthomas (xanthomata) in the skin distributed in the creases of the palm of the hand. Xanthomas are yellowish, firm, lipid-laden nodules in the skin." [] synonym: "Xanthoma palmare striatum" EXACT [] synonym: "Xanthoma striatum palmare" EXACT [] is_a: HP:0000991 ! Xanthomatosis property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T00:34:15Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025531 name: Harlequin phenomenon def: "The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body." [PMID:21575077] comment: The Harlequin phenomenon (HF) is most common in the newborn and can be a generalized phenomenon or only involve a specific body area. The HF of the newborn is thought to be secondary to a relative hypothalamic control immaturity of the sympathetic peripheral vascular tonus, although it has also been described in other age groups, primarily located to the face and neck and mostly caused by a sympathetic disautonomy. While certainly peculiar, the HF is a benign event in the newborn. is_a: HP:0011122 ! Abnormality of skin physiology property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T00:38:26Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025532 name: Positive pathergy test def: "With the pathergy test, a small, sterile needle is inserted into the skin of the forearm. The site of injectionis circuled and observed after one and two days. If a small red bump or pustule at the site of needle insertion occurs, the pathergy test is considered to have a positive (abnormal) result." [] comment: A positive pathergy test indicates the immune system is overreacting to a minor injury. A positive test result can be seen in Behcet disease and other conditions. is_a: HP:0011122 ! Abnormality of skin physiology property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T00:41:57Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025533 name: Peau d'orange comment: A swelling of the skin in which the skin is tethered by the sweat ducts it contains producing tiny dimples. THe overall appearance is said to resemble the skin (peal) of an orange. is_a: HP:0000969 ! Edema property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T01:05:51Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025534 name: Ocular melanocytosis def: "A congenital lesion of the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared." [] comment: In ocular melanocytosis, Intraocular pigmentation is also increased, which contributes to a higher incidence of glaucoma and increases the risk of malignant melanoma. synonym: "Melanosis oculi" EXACT [] synonym: "Ocular melanosis" EXACT [] is_a: HP:0000591 ! Abnormal sclera morphology property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T01:13:19Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025535 name: Shawl sign def: "Erythematous, poikilodermatous macules distributed in a shawl pattern over the shoulders, arms and upper back." [PMID:11730311] comment: This feature may be observed with dermatomyositis and polymyositis. is_a: HP:0010783 ! Erythema property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T01:20:11Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025536 name: V-sign def: "Erythematous, poikilodermatous macules distributed in a V-shaped distribution over the anterior neck and chest." [PMID:11730311] comment: This feature may be observed with dermatomyositis and polymyositis. is_a: HP:0010783 ! Erythema property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T01:20:44Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025537 name: Plantar edema def: "An abnormal accumulation of fluid beneath the skin on sole of the foot." [] is_a: HP:0100872 ! Abnormality of the plantar skin of foot property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T01:29:36Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025538 name: Palmar edema def: "An abnormal accumulation of fluid beneath the skin on the palm of the hand." [] is_a: HP:0040211 ! Abnormality of the skin of the palm property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T01:30:09Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025539 name: Abnormal B cell subset distribution is_a: HP:0010975 ! Abnormal B cell count property_value: http://purl.org/dc/elements/1.1/date 2017-06-12T15:24:43Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025540 name: Abnormal T cell subset distribution def: "Any abnormality in the proportion T cells subsets relative to the total number of T cells." [] is_a: HP:0011839 ! Abnormal T cell count property_value: http://purl.org/dc/elements/1.1/date 2017-06-12T15:27:58Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025541 name: obsolete Decreased activity of complement receptor is_obsolete: true consider: HP:0005339 created_by: HPO:probinson [Term] id: HP:0025546 name: Abnormal mean corpuscular hemoglobin concentration def: "A deviation from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced." [] synonym: "Abnormal MCH" EXACT HP:0045077 [] synonym: "Abnormal MCHC" EXACT HP:0045077 [] synonym: "Abnormal mean corpuscular haemoglobin" EXACT HP:0045076 [] synonym: "Abnormal mean corpuscular Hb concentration" EXACT HP:0045077 [] is_a: HP:0001877 ! Abnormal erythrocyte morphology property_value: http://purl.org/dc/elements/1.1/date 2017-07-09T12:25:23Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025547 name: Decreased mean corpuscular hemoglobin concentration def: "A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced." [] synonym: "Decreased MCH" EXACT HP:0045077 [] synonym: "Decreased MCHC" EXACT HP:0045077 [] synonym: "Decreased mean corpuscular haemoglobin" EXACT HP:0045076 [] synonym: "Decreased mean corpuscular Hb concentration" EXACT HP:0045077 [] is_a: HP:0025546 ! Abnormal mean corpuscular hemoglobin concentration property_value: http://purl.org/dc/elements/1.1/date 2017-07-09T12:28:40Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025548 name: Increased mean corpuscular hemoglobin concentration def: "An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell)." [] synonym: "Increased MCH" EXACT HP:0045077 [] synonym: "Increased MCHC" EXACT HP:0045077 [] synonym: "Increased mean corpuscular haemoglobin" EXACT HP:0045076 [] synonym: "Increased mean corpuscular Hb concentration" EXACT HP:0045077 [] is_a: HP:0025546 ! Abnormal mean corpuscular hemoglobin concentration property_value: http://purl.org/dc/elements/1.1/date 2017-07-09T12:29:45Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025549 name: Eccentric visual fixation def: "A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees." [ORCID:0000-0003-0986-4123] comment: A anomaly in which a part of the retina other than the fovea is used for visual fixation. The fovea usually retains its straight ahead orientation. Eccentric fixation may be present under conditions of viewing with one or both eyes. However, it is more easily diagnosed monocularly (especially if the better eye is covered). synonym: "Eccentric fixation" EXACT [] is_a: HP:0025404 ! Abnormal visual fixation property_value: http://purl.org/dc/elements/1.1/date 2017-07-09T12:48:35Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025550 name: Elevated circulating ribitol concentration def: "An increase above the normal concentration of ribitol in the blood." [] synonym: "Increased level of ribitol in serum" EXACT [] is_a: HP:0011013 ! Abnormal circulating carbohydrate concentration property_value: http://purl.org/dc/elements/1.1/date 2017-07-09T13:01:59Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025551 name: Optic nerve misrouting def: "Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp)." [] synonym: "Optic pathway misrouting" EXACT [] synonym: "Visual pathway misrouting" EXACT [] is_a: HP:0000587 ! Abnormality of the optic nerve property_value: http://purl.org/dc/elements/1.1/date 2017-07-09T13:10:15Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025552 name: Periorbital purpura def: "Multiple red/purple spots on the skin that surrounds the eyes that do not blanch (whiten) upon pressure. Purpura is caused by subcutaneous bleeding." [] is_a: HP:0000606 ! Abnormality of the periorbital region property_value: http://purl.org/dc/elements/1.1/date 2017-07-09T13:14:08Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025553 name: Periorbital ecchymosis with tarsal plate sparing def: "Subcutaneous bleeding with a diamter greater than 1 cm (ecchymosis). The bleeding does not extend into the tarsal plate (the comparatively thick, elongated plates of dense connective tissue within the eyelid) due to an anatomic structure called the orbital septum, which limits extravasation of blood beyond the tarsal plate." [PMID:20411091] synonym: "Raccoon eyes" EXACT layperson [] is_a: HP:0000606 ! Abnormality of the periorbital region property_value: http://purl.org/dc/elements/1.1/date 2017-07-09T13:16:35Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025554 name: Yellow nodule def: "A type of skin nodule (a lesions that is greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat) with a yellowish coloration (that reflects a high lipid content of the lesion)." [PMID:22223978] is_a: HP:0200036 ! Skin nodule property_value: http://purl.org/dc/elements/1.1/date 2017-07-09T13:41:25Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025555 name: Periungual teleangiectasia def: "Telangiectasia (small dilated blood vessels) located near to the fingernails or toenails." [] is_a: HP:0100585 ! Telangiectasia of the skin property_value: http://purl.org/dc/elements/1.1/date 2017-07-09T13:50:16Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025558 name: Lamellar cataract with riders def: "Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens." [ORCID:0000-0003-0986-4123] is_a: HP:0007971 ! Lamellar cataract property_value: http://purl.org/dc/elements/1.1/date 2017-12-13T12:54:00Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025559 name: Coronary cataract def: "A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown." [ORCID:0000-0003-0986-4123] is_a: HP:0010920 ! Zonular cataract property_value: http://purl.org/dc/elements/1.1/date 2017-12-13T13:04:32Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025560 name: Anterior chamber cells def: "Tiny deposits corresponding to cells floating in the anterior chamber of the eye. This appearance is typically associated with intraocular inflammation leading to breakdown of the blood-aqueous barrier and resulting in an increase in the number of cells and in the aqueous humor. Grading (SUN Working Group) is performed by estimating the number of cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp." [ORCID:0000-0003-0986-4123, PMID:16196117] is_a: HP:0000593 ! Abnormal anterior chamber morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T13:00:02Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025561 name: Anterior chamber cells grade 1+ def: "Anterior chamber cells with 6-15 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp." [PMID:16196117] is_a: HP:0025560 ! Anterior chamber cells property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T13:15:06Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025562 name: Anterior chamber cells grade 0.5+ def: "Anterior chamber cells with 1-5 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp." [PMID:16196117] is_a: HP:0025560 ! Anterior chamber cells property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T13:17:41Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025563 name: Anterior chamber cells grade 0 def: "Anterior chamber cells with less than one cell in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp." [PMID:16196117] is_a: HP:0025560 ! Anterior chamber cells property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T13:19:21Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025564 name: Anterior chamber cells grade 2+ def: "Anterior chamber cells with 16-25 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp." [PMID:16196117] is_a: HP:0025560 ! Anterior chamber cells property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T13:21:53Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025565 name: Anterior chamber cells grade 3+ def: "Anterior chamber cells with 26-50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp." [] is_a: HP:0025560 ! Anterior chamber cells property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T13:23:54Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025566 name: Anterior chamber cells grade 4+ def: "Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp." [PMID:16196117] is_a: HP:0025560 ! Anterior chamber cells property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T13:24:54Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025567 name: Central serous chorioretinopathy def: "An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months." [PMID:17662099] comment: The condition can be precipitated by psychosocial stress and hypercortisolism. Ophthalmoscopic signs of CSC range from mono- or paucifocal RPE lesions with prominent elevation of the neurosensory retina by clear fluid - typical of cases of recent onset - to shallow detachments overlying large patches of irregularly depigmented RPE. The spectrum of lesions includes RPE detachments. Granular or fibrinous material may accumulate in the subretinal cavity. Serous detachment often resolves spontaneously. is_a: HP:0000532 ! Abnormal chorioretinal morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T13:33:21Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025568 name: Abnormal morphology of the choroidal vasculature is_a: HP:0000610 ! Abnormal choroid morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T13:37:50Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025569 name: Polypoidal choroidal vasculopathy def: "The presence of aneurysmal polypoidal lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization." [PMID:24653824] comment: The presence of choroidal polyps and BVN can lead to recurrent episodes of exudative retinal detachment, serous or hemorrhagic pigment epithelial detachment (PED), subretinal hemorrhage, and subretinal exudation. is_a: HP:0025568 ! Abnormal morphology of the choroidal vasculature property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T13:39:58Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025570 name: Choroidal vascular hyperpermeability def: "Increased tendency of choiroidal blood vessels to allow fluids to leak characterized by multifocal choroidal hyperfluorescence on indocyanine green angiography (ICGA)." [PMID:25709392] synonym: "Choroidal hyperpermeability" EXACT [] is_a: HP:0025568 ! Abnormal morphology of the choroidal vasculature property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T13:49:33Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025571 name: Christmas tree cataract def: "A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree." [PMID:27190856] is_a: HP:0000518 ! Cataract property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T13:58:00Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025572 name: Punctal stenosis def: "Punctal stenosis is a condition in which the external opening of the lacrimal canaliculus is narrowed or occluded." [PMID:22848141] comment: Epiphora is a common complaint encountered by ophthalmologists, with a broad differential diagnosis. One of the least discussed etiologies of epiphora is stenosis of the external lacrimal punctum. When it occurs, the most common presenting symptom is tearing, but patients may have vague complaints of ocular discomfort. synonym: "Lacrimal punctum stenosis" EXACT [] synonym: "Stenosis of the lacrimal punctum" EXACT [] is_a: HP:0011479 ! Abnormal lacrimal punctum morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T14:21:45Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025573 name: Mild myopia def: "A mild form of myopia with up to -3.00 diopters." [ORCID:0000-0003-0986-4123] is_a: HP:0000545 ! Myopia property_value: http://purl.org/dc/elements/1.1/date 2017-12-14T14:38:05Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025574 name: Macular hemorrhage synonym: "Bleeding occurring within the macula lutea of the retina." EXACT [] synonym: "Macular haemorrhage" EXACT HP:0045076 [] is_a: HP:0000573 ! Retinal hemorrhage is_a: HP:0001103 ! Abnormal macular morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-15T14:47:24Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025575 name: Abnormal superior vena cava morphology def: "Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart." [MP:0006064] xref: Fyler:2820 is_a: HP:0005345 ! Abnormal vena cava morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-15T23:00:56Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025576 name: Abnormal inferior vena cava morphology def: "Any structural anomaly of the principal vein draining blood from the lower portion of the body." [MP:0006063] xref: Fyler:2810 is_a: HP:0005345 ! Abnormal vena cava morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-15T23:02:17Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025578 name: Aortic valve prolapse def: "Aortic valve prolapse can be diagnosed when either or both of the right or non-coronary aortic valve cusps (seen in the cross sectional echocardiographic long axis view) show backward bowing towards the left ventricle beyond a line joining the points of attachment of the aortic valve leaflets to the annulus." [PMID:4015927] xref: Fyler:1452 is_a: HP:0001646 ! Abnormal aortic valve morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-15T23:47:17Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025579 name: Abnormal left atrium morphology def: "Any structural abnormality of the left atrium." [] xref: Fyler:3010 is_a: HP:0005120 ! Abnormal cardiac atrium morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-15T23:54:09Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025580 name: Abnormal right atrium morphology def: "Any structural abnormality of the right atrium." [] xref: Fyler:1770 is_a: HP:0005120 ! Abnormal cardiac atrium morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-15T23:56:01Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025581 name: Foveal hemorrhage def: "Bleeding occurring within the fovea." [ORCID:0000-0003-0986-4123] synonym: "Foveal haemorrhage" EXACT HP:0045076 [] is_a: HP:0025574 ! Macular hemorrhage property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T19:21:30Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025582 name: Submacular hemorrhage def: "Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation." [ORCID:0000-0003-0986-4123, PMID:23202390] synonym: "Sub-macular hemorrhage" EXACT [] synonym: "Submacular haemorrhage" EXACT HP:0045076 [] is_a: HP:0025243 ! Subretinal hemorrhage is_a: HP:0025574 ! Macular hemorrhage property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T19:25:19Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025583 name: Tapetal-like fundal reflex def: "Golden, scintillating, particulate reflection noted on fundus examination (typically in the macula and sparing the fovea). The term tapetal is used to describe this 'metallic' sheen appearance as it is thought to be similar to the 'tapetal' reflex seen in the eyes of certain animals." [] comment: This appearance is typically seen in female carriers of X-linked RP associated mutations. is_a: HP:0001098 ! Abnormal fundus morphology property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T19:32:18Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025584 name: Hypotropia def: "A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open." [ORCID:0000-0003-0986-4123] is_a: HP:0025588 ! Hypodeviation is_a: HP:0032012 ! Heterotropia property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T19:39:59Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025585 name: Hyperphoria def: "Tendency for the visual axis of one eye to be higher than that of the other." [ORCID:0000-0003-0986-4123] is_a: HP:0025587 ! Hyperdeviation is_a: HP:0032011 ! Heterophoria property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T19:42:23Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025586 name: Hypertropia def: "A type of strabismus characterized by permanent upward deviation of the visual axis of one eye." [ORCID:0000-0003-0986-4123] is_a: HP:0025587 ! Hyperdeviation is_a: HP:0032012 ! Heterotropia property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T19:44:01Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025587 name: Hyperdeviation def: "A type of strabismus in which the visual axis of one eye is higher than that of the other." [ORCID:0000-0003-0986-4123] comment: Hyperphoria is a latent deviation where the eyes remain aligned under normal binocular vision. Hypertropia is a manifest deviation in which the eyes are not aligned under binocular conditions. is_a: HP:0000486 ! Strabismus property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T19:45:45Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025588 name: Hypodeviation def: "A type of strabismus in which the visual axis of one eye is lower than that of the other." [ORCID:0000-0003-0986-4123] comment: Hypophoria is a latent deviation where the eyes remain aligned under normal binocular vision. Hypotropia is a manifest deviation in which the eyes are not aligned under binocular conditions. is_a: HP:0000486 ! Strabismus property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T19:50:55Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025589 name: Cyclodeviation def: "Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes." [ORCID:0000-0003-0986-4123, PMID:15731772] comment: Patients with torsional deviations rarely complain of torsional diplopia and thus, cyclotropia has largely not been of significant clinical concern. is_a: HP:0000486 ! Strabismus property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T19:57:49Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025590 name: Abnormal extraocular muscle physiology def: "A functional anomaly of the muscles of the eye." [] is_a: HP:0012373 ! Abnormal eye physiology property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T20:11:20Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025591 name: Abnormal superior oblique muscle physiology def: "A functional anomaly of the superior oblique muscle, a fusiform muscle that originates in the upper, medial side of the orbit. The superior oblique muscle abducts, depresses and internally rotates the eye, and is the only extraocular muscle innervated by the fourth cranial nerve." [ORCID:0000-0003-0986-4123] comment: A neurological examination includes assessment of the trochlear nerve (CN IV) which innervates the superior oblique muscle. The test for CN IV function is for the patient to depress and adduct the eye (ie. to look down and in). This movement is impaired in the presence of a trochlear nerve palsy. is_a: HP:0031739 ! Abnormal oblique muscle physiology property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T20:12:43Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025592 name: Superior oblique muscle weakness def: "Decreased strength of the superior oblique muscle." [] synonym: "Superior oblique palsy" EXACT [] is_a: HP:0025591 ! Abnormal superior oblique muscle physiology property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T20:17:49Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025593 name: Superior oblique muscle restriction def: "Mechanical limitation of the range of movement of the superior oblique muscle." [ORCID:0000-0003-0986-4123] comment: In contrast to deficits produced by primary muscle weakness, restriction means that the affected extraocular muscle cannot move passively any more than actively. is_a: HP:0025592 ! Superior oblique muscle weakness property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T20:38:29Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025594 name: Superior oblique muscle overaction def: "An ocular motility abnormality characterized by an overacting superior oblique muscle resulting to vertical incomitance of the eyes in lateral gaze. On examination, this is commonly seen as a downshoot of the adducting eye occuring when gaze is directed into the field of action of the inferior oblique muscle, producing a greater downward excursion of the adducted eye than of the abducted eye." [ORCID:0000-0003-0986-4123, PMID:11545636] is_a: HP:0025591 ! Abnormal superior oblique muscle physiology property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T20:41:15Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025595 name: Superior oblique muscle underaction def: "Reduced ocular movement of the superior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy." [ORCID:0000-0003-0986-4123] synonym: "Under-depression in adduction" EXACT [] is_a: HP:0025592 ! Superior oblique muscle weakness property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T20:46:33Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025596 name: Abnormal inferior oblique muscle physiology def: "A functional anomaly of the inferior oblique muscle, an extraocular muscle that has its origin on the maxillary bone just posterior to the inferior medial orbital rim and lateral to the nasolacrimal canal and that is innervated by the inferior branch of the oculomotor nerve." [ORCID:0000-0003-0986-4123] comment: The major functions of the inferior oblique muscle are extorsion (external rotation), elevation, and abduction. is_a: HP:0031739 ! Abnormal oblique muscle physiology property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T20:54:37Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025597 name: Inferior oblique muscle restriction def: "Mechanical limitation of the range of movement of the inferior oblique muscle." [ORCID:0000-0003-0986-4123] comment: In contrast to deficits produces by primary muscle weakness, extraocular muscle restriction cannot move passively any more than actively. is_a: HP:0025598 ! Inferior oblique muscle weakness property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T21:15:59Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025598 name: Inferior oblique muscle weakness def: "Decreased strength of the inferior oblique muscle." [ORCID:0000-0003-0986-4123] synonym: "Inferior oblique palsy" EXACT [] is_a: HP:0025596 ! Abnormal inferior oblique muscle physiology property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T21:23:31Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025599 name: Inferior oblique muscle overaction def: "A common ocular motility disorder characterized by vertical incomitance of the eyes in lateral gaze. In primary inferior oblique muscle overaction, an upshoot of the adducting eye occurs when gaze is directed into the field of action of the inferior oblique muscle, producing a greater upward excursion of the adducted eye than of the abducted eye." [ORCID:0000-0003-0986-4123, PMID:11545636] is_a: HP:0025596 ! Abnormal inferior oblique muscle physiology property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T21:25:58Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025600 name: Abnormal inferior rectus muscle physiology def: "A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye." [ORCID:0000-0003-0986-4123] is_a: HP:0031748 ! Abnormal vertical rectus muscle physiology property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T21:31:55Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025601 name: Inferior rectus muscle weakness def: "Decreased strength of the inferior rectus muscle." [ORCID:0000-0003-0986-4123] is_a: HP:0025600 ! Abnormal inferior rectus muscle physiology property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:23:13Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025602 name: Inferior rectus muscle restriction def: "Mechanical limitation of the range of movement of the inferior rectus muscle." [ORCID:0000-0003-0986-4123] comment: In contrast to deficits produced by primary muscle weakness, restriction means that the affected extraocular muscle cannot move passively any more than actively. is_a: HP:0025601 ! Inferior rectus muscle weakness property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:24:32Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025603 name: Abnormal superior rectus muscle physiology def: "A functional anomaly of the superior rectus muscle, an extraocular muscle that is innervated by the superior division of the oculomotor nerve, and whose primary function is the elevation of the globe." [ORCID:0000-0003-0986-4123] is_a: HP:0031748 ! Abnormal vertical rectus muscle physiology property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:28:02Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025604 name: Orbital schwannoma def: "A schwannoma (benign, usually encapsulated slow growing tumor composed of Schwann cells) located in the orbit." [] is_a: HP:0100012 ! Neoplasm of the eye property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:31:31Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025605 name: Lid lag on downgaze def: "Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign." [ORCID:0000-0003-0986-4123] synonym: "Eyelid lag" EXACT [] synonym: "Lid lag" EXACT [] synonym: "von Graefe sign" RELATED [] is_a: HP:0031785 ! Abnormal eyelid movement property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:37:21Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025606 name: Abnormal medial rectus muscle physiology def: "A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball." [ORCID:0000-0003-0986-4123] is_a: HP:0031740 ! Abnormal horizontal rectus muscle physiology property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:41:09Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025607 name: Upper eyelid entropion def: "An inward turning (inversion) of the margin of the upper eyelid." [ORCID:0000-0003-0986-4123] is_a: HP:0000621 ! Entropion property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:44:13Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025608 name: Cicatricial ectropion def: "An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring." [ORCID:0000-0003-0986-4123] comment: Cicatricial ectropion may occur owing to burns, lacerations, or infection of the skin of the eyelid. is_a: HP:0000656 ! Ectropion property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:49:08Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025609 name: Anterior blepharitis def: "A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles." [ORCID:0000-0003-0986-4123] is_a: HP:0000498 ! Blepharitis property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:52:54Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025610 name: Posterior blepharitis def: "A type of blepharitis that affects the meibomian glands and meobomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia." [ORCID:0000-0003-0986-4123] synonym: "Meibomian gland disease" RELATED [] synonym: "Meibomian gland dysfunction" EXACT [] is_a: HP:0000498 ! Blepharitis property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:53:43Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025611 name: Epicanthus superciliaris def: "A type of epicanthus in which more extensive epicanthal folds with their origins in the eyebrow cover, pass in front of and lateral to the medial canthus (middle corner of the eye)." [ORCID:0000-0003-0986-4123] is_a: HP:0000286 ! Epicanthus property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T22:58:02Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025612 name: Corneal astigmatism def: "A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea." [ORCID:0000-0003-0986-4123] is_a: HP:0000483 ! Astigmatism property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T23:06:10Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025613 name: Focal emotional seizure def: "A type of focal-onset seizure characterized by alterations in mood or emotion, or the appearance of altered emotion without the subjective emotion, at seizure onset. These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer." [PMID:28276062, PMID:28276064] is_a: HP:0007359 ! Focal-onset seizure property_value: http://purl.org/dc/elements/1.1/date 2018-10-07T16:18:24Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025615 name: Abscess is_a: HP:0032251 ! Abnormal immune system morphology property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T22:41:54Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025616 name: Sterile abscess def: "An abscess not caused by infection with pyogenic bacteria. Operationally, a sterile abscess is inferred if investigations of an abscess fail to reveal evidence of pathogenic organisms." [] is_a: HP:0025615 ! Abscess property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T22:44:34Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025617 name: Abnormal plasma cell count def: "An abnormal number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies." [] is_a: HP:0002846 ! Abnormal B cell morphology property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T23:51:27Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025618 name: Reduced plasma cell count def: "An abnormally low number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies." [] is_a: HP:0025617 ! Abnormal plasma cell count property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T23:52:54Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025619 name: Elevated plasma cell count def: "An abnormally high number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies." [] is_a: HP:0025617 ! Abnormal plasma cell count property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T23:53:33Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025620 name: Abnormal proportion of CD4+ central memory cells def: "An abnormal proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype." [] is_a: HP:0025540 ! Abnormal T cell subset distribution property_value: http://purl.org/dc/elements/1.1/date 2019-04-08T23:55:32Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025621 name: Elevated proportion of CD4+ central memory cells def: "An abnormally increased proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype." [] is_a: HP:0025620 ! Abnormal proportion of CD4+ central memory cells property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T00:10:11Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025622 name: Reduced proportion of CD4+ central memory cells def: "An abnormally decreased proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype." [] is_a: HP:0025620 ! Abnormal proportion of CD4+ central memory cells property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T00:10:19Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025623 name: Abnormal proportion of CD4+ effector memory cells def: "An abnormal proportion of effector memory CD4+ T cells. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype." [] is_a: HP:0025540 ! Abnormal T cell subset distribution property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T00:11:24Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025624 name: Reduced proportion of CD4+ effector memory T cells def: "An abnormally decreased proportion of effector memory CD4+ T cells. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype." [] is_a: HP:0025623 ! Abnormal proportion of CD4+ effector memory cells property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T00:13:00Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025625 name: Elevated proportion of CD4+ effector memory T cells def: "An abnormally increased proportion of effector memory CD4+ T cells. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype." [] is_a: HP:0025623 ! Abnormal proportion of CD4+ effector memory cells property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T00:13:18Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025626 name: Increased circulating oleate level def: "An abnormally high concentration of oleic acid (oleate) in the blood circulation." [PMID:18772370, UCDenver:tjcallahan] is_a: HP:0003455 ! Elevated circulating long chain fatty acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T00:25:28Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025627 name: Increased circulating octadecanoate level def: "An abnormally high concentration of octadecanoate in the blood circulation. Octadecanoate is a fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid)." [] is_a: HP:0003455 ! Elevated circulating long chain fatty acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T00:28:58Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025628 name: Increased circulating myristoleate level def: "An abnormally high concentration of myristoleate in the blood circulation." [] is_a: HP:0003455 ! Elevated circulating long chain fatty acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T00:31:41Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025629 name: Anti-myelin-associated glycoprotein antibody positivity def: "The presence of autoantibodies (immunoglobulins) in the serum that react against myelin-associated glycoprotein (MAG)." [PMID:16969155] comment: The anti-myelin-associated glycoprotein (MAG) neuropathy is an antibody-mediated demyelinating neuropathy. The clinical picture is characterized by a distal and symmetric, mostly sensory neuropathy. Monoclonal immunoglobulin M anti-MAG antibodies are uniquely found in this condition and are believed to be pathogenic. is_a: HP:0030057 ! Autoimmune antibody positivity property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T00:48:21Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025630 name: Argininosuccinic aciduria def: "Increased amount of argininosuccinate in the urine." [PMID:30158522, UCDenver:tjcallahan] comment: rgininosuccinate lyase (ASL) belongs to the hepatic urea cycle detoxifying ammonia, and the citrulline-nitric oxide (NO) cycle producing NO. ASL-deficient patients present argininosuccinic aciduria characterised by hyperammonaemia, multiorgan disease and neurocognitive impairment. is_a: HP:0003355 ! Aminoaciduria property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T00:55:15Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025631 name: Alpha-aminobutyric aciduria def: "Increased amount of alpha-aminobutyric acid in the urine." [UCDenver:tjcallahan] is_a: HP:0003355 ! Aminoaciduria property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T01:21:25Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025632 name: Reduced reactive oxygen species production in neutrophils comment: Polymorphonuclear neutrophils comprise more than 60% ofthe circulating white blood cells in humans. They have a central role in innate immunity and they regulate adaptive immunity. In healthy individuals, circulating neutrophils are freely flowing in a resting, dormant state. Upon infection, neutrophils are the first circulating cells to arrive at the infection and inflammatory site. Phagocytosis triggers the activation program of the neutrophils, leading to the intraphagosomal release of antibacterial peptides, proteases, myeloperoxidase, and superoxide anion (O2-), which is produced via the activation of the NADPH oxidase. Superoxide anion is the initiating spark leading to the generation of reactive oxygen species (ROS), i.e., hydrogen peroxide (H2O2), hydroxylradical and hypochlorous acid (HOCl), all contributing to the death and destruction of the bacteria within the phagosome. ROS production by the phagocytes was first referred as the respiratory burst or oxidative burst due to the rapid and cyanide-insensitive increase in oxygen uptake, increase in glucose consumption, andimmediate ROS release. The enzyme system dedicated to superoxide anion production, i.e., the phagocyte NADPH oxidase, a member of the NOX family of proteins also referred as NOX2, is composed of six proteins, two trans-membrane proteins (p22phox and gp91phox) that form theflavocytochrome b558, and four soluble proteins (p47phox,p67phox, and p40phox and the small G-proteins, Rac1/2). is_a: HP:0025463 ! Abnormality of redox activity property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T01:36:43Z xsd:dateTime property_value: http://purl.org/dc/elements/1.1/description "An abnormal reduction in the amount of reactive oxygen produced by neutrophils in the respiratory burst." xsd:string {xref="PMID:27558335"} created_by: HPO:probinson [Term] id: HP:0025633 name: Abnormal ureter morphology def: "A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder." [] is_a: HP:0000069 ! Abnormality of the ureter property_value: http://purl.org/dc/elements/1.1/date 2019-04-26T17:40:47Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025634 name: Abnormal ureter physiology def: "A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder." [] is_a: HP:0000069 ! Abnormality of the ureter property_value: http://purl.org/dc/elements/1.1/date 2019-04-26T17:43:08Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025635 name: Ureteral polyp def: "A growth protruding from the mucous membrane of the ureter. Ureteral polyps can be attached to the ureter by a broad base or a thin stalk." [NCIT:C4530] synonym: "Polyp of the ureter" EXACT [] synonym: "Ureter polyp" EXACT [] xref: NCIT:C4530 is_a: HP:0100516 ! Neoplasm of the ureter property_value: http://purl.org/dc/elements/1.1/date 2019-04-26T17:44:45Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025636 name: Endometritis def: "Inflammation of the inner lining of the uterus (endometrium)." [ORCID:0000-0002-8169-9049, PMID:29960704] synonym: "Endometrial inflammation." EXACT [] synonym: "Inflammation of the inner lining of the uterus" EXACT [] is_a: HP:0030126 ! Abnormality of the endometrium property_value: http://purl.org/dc/elements/1.1/date 2019-04-26T17:48:41Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025637 name: Vasospasm def: "Narrowing of an artery due to constriction of the blood vessels." [ORCID:0000-0002-8169-9049, PMID:20557770] synonym: "Angiospasm" EXACT [] synonym: "Blood vessel spasm" EXACT [] synonym: "Vascular spasm" EXACT [] is_a: HP:0025323 ! Abnormal arterial physiology property_value: http://purl.org/dc/elements/1.1/date 2019-04-26T17:51:29Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025638 name: Elevated urinary N-butyrylglycine def: "An increased level of N-butyrylglycine in the urine." [UCDenver:tjcallahan] comment: Butyrylglycine is a N-acylglycine obtained by formal condensation of the carboxy group of butyric acid with the amino group of glycine. Its urinary excretion is increased in certain inborn errors of metabolism. is_a: HP:0040156 ! Elevated urinary carboxylic acid property_value: http://purl.org/dc/elements/1.1/date 2019-04-26T18:06:25Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025639 name: Increased urinary zinc level def: "An abnormally elevated amount of zinc in the urine, typically as assessed by a 24 hour urine collection." [] is_a: HP:0025640 ! Abnormal urinary mineral level property_value: http://purl.org/dc/elements/1.1/date 2019-04-26T18:12:28Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025640 name: Abnormal urinary mineral level def: "An abnormal concentration or amount of a mineral in the urine. Medically relevant minerals include calcium, phosphorus, potassium, sodium, chloride, magnesium, iron, zinc, iodine, chromium, copper, fluoride, molybdenum, manganese, and selenium." [] is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: http://purl.org/dc/elements/1.1/date 2019-04-26T18:13:40Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0025641 name: Elevated circulating glycolate concentration def: "An abnormally increased concentration of glycolate in the blood circulation." [OHSU:jpgourdine, PMID:2002628] comment: Glycolate is a hydroxy monocarboxylic acid anion that is acetate in which the methyl group has been hydroxylated. is_a: HP:0010996 ! Abnormal circulating monocarboxylic acid cocentration property_value: http://purl.org/dc/elements/1.1/date 2019-04-26T18:31:31Z xsd:dateTime created_by: HPO:probinson [Term] id: HP:0030000 name: EMG: repetitive nerve stimulation abnormality def: "Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz." [UToronto:HTrang] xref: UMLS:C4022681 is_a: HP:0003457 ! EMG abnormality [Term] id: HP:0030001 name: Lagopthalmos def: "A condition in which the eyelids do not close to cover the eye completely." [] comment: Some common causes of lagophthalmos are Bell's palsy and other types of facial paralysis, stroke, infection, and trauma. The inability to blink and effectively close the eyes leads to corneal exposure and excessive evaporation of the tear film. The main purpose when treating lagophthalmos is to prevent exposure keratitis and reestablish eyelid function. synonym: "Eyelids stay open" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Inability to close the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] xref: pmid:20590416 xref: UMLS:C4022680 is_a: HP:0000492 ! Abnormal eyelid morphology [Term] id: HP:0030002 name: Nocturnal lagophthalmos def: "The inability to close the eyelids during sleep." [] comment: Lagophthalmos is associated with exposure keratopathy, poor sleep, and persistent exposure-related symptoms. There are a variety of causes of lagophthalmos, grouped as proptosis/eye exposure etiologies and palpebral insufficiency etiologies. synonym: "Eyelids stay open at night" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Inability to close the eyelids at night" EXACT layperson [ORCID:0000-0001-5889-4463] xref: pmid:16671223 xref: SNOMEDCT_US:417740005 xref: UMLS:C1563118 is_a: HP:0030001 ! Lagopthalmos [Term] id: HP:0030003 name: Paralytic lagophthalmos def: "A type of lagophthalmos that occurs in association with facial nerve palsy." [] comment: Patients with facial nerve palsy have a characteristic facial asymmetry and drooping of the angle of mouth. The temporal and zygomatic branches of facial nerve supply the forehead and eyelid muscles. Their involvement in a disease leads to paralysis of orbicularis oculi muscle resulting in lagophthalmos and ectropion. xref: pmid:24618488 xref: SNOMEDCT_US:59890007 xref: UMLS:C0155197 is_a: HP:0030001 ! Lagopthalmos [Term] id: HP:0030004 name: Cicatricial lagophthalmos def: "A type of lagophthalmos that occurs following trauma or surgery." [] synonym: "Eyelids stay open due to scarring" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Inability to close the eyelids due to scarring" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:9042000 xref: UMLS:C0155199 is_a: HP:0030001 ! Lagopthalmos [Term] id: HP:0030005 name: Capillary leak def: "An acute phenomenon characterized by hypotension and anasarca due to the loss of plasma volume into peripheral tissues, with evidence of decreased plasma volume (hemoconcentration) and protein loss from the intravascular space (hypoalbuminemia) during acute episodes." [] synonym: "Increased capillary permeability" EXACT [] synonym: "Systemic capillary leak syndrome" RELATED [] xref: MSH:D019559 xref: pmid:24467750 xref: pmid:24808988 xref: SNOMEDCT_US:1608005 xref: SNOMEDCT_US:87730004 xref: UMLS:C0343084 xref: UMLS:C1382398 is_a: HP:0025018 ! Abnormal capillary physiology [Term] id: HP:0030006 name: Single fiber EMG abnormality def: "Abnormality in single fiber EMG recording, a technique that allows identification of action potentials (APs) from individual muscle fibers." [HPO:probinson, pmid:21654930] xref: UMLS:C4022679 is_a: HP:0003457 ! EMG abnormality [Term] id: HP:0030007 name: EMG: positive sharp waves def: "These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform." [] xref: pmid:15961866 xref: SNOMEDCT_US:251527008 xref: UMLS:C0429349 is_a: HP:0003482 ! EMG: axonal abnormality [Term] id: HP:0030008 name: Cervical agenesis def: "Congenital absence of the cervix." [] synonym: "Absent cervix" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia of the cervix" EXACT [] synonym: "Cervical aplasia" EXACT [] xref: SNOMEDCT_US:37687000 xref: UMLS:C0266404 is_a: HP:0012888 ! Abnormality of the uterine cervix [Term] id: HP:0030009 name: Cervical insufficiency def: "A cervix that shows a painless dilation and shortening during the second trimester of pregnancy with resultant recurrent pregnancy loss or delivery is considered incompetent" [] comment: One of the known risk factors for preterm birth is cervical insufficiency. synonym: "Incompetent cervix" EXACT [] xref: MSH:D002581 xref: pmid:17490914 xref: pmid:20643692 xref: SNOMEDCT_US:17382005 xref: UMLS:C0007871 is_a: HP:0012888 ! Abnormality of the uterine cervix [Term] id: HP:0030010 name: Hydrometrocolpos def: "Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina." [] comment: Usually hydrometrocolpos manifests at puberty caused by an obstruction of the female genital tract.The most frequent cause of hydrometrocolpos is the presence of imperforate hymen due to failure of partial resorption of this membrane during the embryonic development. xref: pmid:24046799 xref: SNOMEDCT_US:60023006 xref: UMLS:C0269209 is_a: HP:0000142 ! Abnormal vagina morphology [Term] id: HP:0030011 name: Imperforate hymen def: "A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina." [] comment: Imperformate hymen is caused by a failure of the hymen to perforate during fetal development. It is most often diagnosed in adolescent girls when menstrual blood accumulates in the vagina and sometimes also in the uterus. It can be treated by surgical incision of the hymen. xref: MSH:C562397 xref: pmid:24822139 xref: SNOMEDCT_US:65937002 xref: UMLS:C0152436 is_a: HP:0000142 ! Abnormal vagina morphology [Term] id: HP:0030012 name: Abnormal female reproductive system physiology synonym: "Abnormal female genital system physiology" RELATED layperson [] synonym: "Abnormal female reproductive system physiology" EXACT layperson [] xref: UMLS:C4020714 xref: UMLS:C4022678 is_a: HP:0000080 ! Abnormality of reproductive system physiology [Term] id: HP:0030013 name: obsolete Endometriosis is_obsolete: true replaced_by: HP:0030127 [Term] id: HP:0030014 name: Female sexual dysfunction xref: UMLS:C1112442 is_a: HP:0030012 ! Abnormal female reproductive system physiology [Term] id: HP:0030015 name: Female anorgasmia def: "The persistent of recurrent difficulty, delay in, or absence of attaining orgasm following sufficient sexual stimulation and arousal." [] synonym: "Female orgasmic disorder" BROAD layperson [] xref: pmid:16391543 xref: SNOMEDCT_US:60103007 xref: UMLS:C0033948 xref: UMLS:C4022677 is_a: HP:0030014 ! Female sexual dysfunction [Term] id: HP:0030016 name: Dyspareunia def: "Recurrent or persistent genital pain associated with sexual intercourse." [] comment: Dyspareunia can develop secondary to medical problems such as vestibulitis, vaginal atrophy, or vaginal infection. It can be either physiologically or psychologically based, or a combination of the two. xref: MSH:D004414 xref: pmid:16391543 xref: SNOMEDCT_US:71315007 xref: UMLS:C1384606 is_a: HP:0030014 ! Female sexual dysfunction [Term] id: HP:0030017 name: Vaginismus def: "Recurrent or persistent involuntary spasms of the musculature of the outer third of the vagina that interferes with vaginal penetration, and which causes personal distress." [] comment: Vaginismus usually develops as a conditioned response to painful penetration, or secondary to psychological/emotional factors. xref: MSH:D052065 xref: pmid:16391543 xref: SNOMEDCT_US:79012001 xref: UMLS:C2004487 is_a: HP:0030014 ! Female sexual dysfunction [Term] id: HP:0030018 name: Decreased female libido def: "Dminished sexual desire in female." [] synonym: "Decreased female sex drive" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022676 is_a: HP:0030014 ! Female sexual dysfunction is_a: HP:0031845 ! Abnormal libido [Term] id: HP:0030019 name: Increased female libido def: "Elevated sexual desire in female" [] synonym: "Increased female sex drive" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022675 is_a: HP:0030014 ! Female sexual dysfunction is_a: HP:0031845 ! Abnormal libido [Term] id: HP:0030021 name: Auricular tag def: "Small protrusion within the pinna." [eom:1b6d89bad30b8f18, pmid:19152421] comment: The tag can be located on either side of the pinna. xref: UMLS:C4022674 is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0030022 name: Question mark ear def: "Cleft between the helix and the lobe." [eom:cffbc3de49dbb172, pmid:19152421] comment: Relatively few cases have been reported. Variation from a small notch to complete separation of the helix from the lobe is noted, there may be unilateral or bilateral involvement. The lobe is relatively laterally recessed compared to the upper portion of the ear and the scapha may be absent. This is distinct from a Cleft helix where the cleft is within the helix. synonym: "Constricted ear" EXACT [] synonym: "Cosman ear" EXACT [] synonym: "Question mark ear" EXACT layperson [] synonym: "Question mark ears" EXACT layperson [HPO:skoehler] xref: UMLS:C3888103 is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0030023 name: Quelprud nodule def: "Small cartilaginous prominence on the posterior concha." [eom:193d1645eb4eced8, pmid:19152421] comment: This feature is best visualized when the earlobe is tilted anteriorly. xref: UMLS:C4022673 is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0030024 name: Pretragal ectopia def: "Variably shaped, cartilage-containing tissue anterior to the external auditory meatus." [eom:095679c21044c851] comment: Pretragal ectopia refers to structures that are frequently complex and should be distinguished from preauricular tags. They may be difficult to distinguish from striated muscle hamartomas or tragal duplications. Pretragal ectopias often appear helix-like, and in such cases may be called Polyotia. synonym: "Accessory Tragus" RELATED [] synonym: "Extra cartilage in front of the ear" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Pretragal Duplication" RELATED [] xref: SNOMEDCT_US:204245004 xref: UMLS:C0266609 is_a: HP:0000383 ! Abnormality of periauricular region [Term] id: HP:0030025 name: Auricular pit def: "Small indentation in the lower part of the ascending helix, concha, or in the crus helix." [eom:1fe5d46deac24493, pmid:19152421] comment: The location of the pits is the plane of fusion of the first branchial cleft. xref: UMLS:C4022672 is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0030026 name: Squared superior portion of helix def: "Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual." [eom:ddce48fcd9ee46f4, pmid:19152421] comment: This is not to be confused with Lop ear or Satyr ear and may represent an underdevelopment of the upper third of the pinna. This is usually associated with a short ascending helix. xref: UMLS:C4022671 is_a: HP:0011039 ! Abnormality of the helix [Term] id: HP:0030027 name: Abnormality of the nasal cartilage def: "A morphological anomaly of the nasal cartilage." [] synonym: "Abnormality of cartilage of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the nasal cartilage" EXACT layperson [] synonym: "Anomaly of cartilage of nose" EXACT [ORCID:0000-0001-5889-4463] synonym: "Anomaly of nasal cartilage" EXACT [ORCID:0000-0001-5889-4463] synonym: "Deformity of cartilage of nose" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Deformity of nasal cartilage" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of cartilage of nose" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of nasal cartilage" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4022670 is_a: HP:0010938 ! Abnormality of the external nose [Term] id: HP:0030028 name: Absent nasal cartilage def: "Lack of a palpable nasal cartilage." [eom:73e4e8bb2eec316d, pmid:19152422] comment: This feature may be accompanied by a deficiency of the nasal bone. Absence of the nasal cartilage may lead to a Depressed nasal tip, which should be coded separately. synonym: "Absent cartilage of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Absent nasal cartilage" EXACT layperson [] synonym: "Agenesis of cartilage of nose" EXACT [ORCID:0000-0001-5889-4463] synonym: "Agenesis of nasal cartilage" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of cartilage of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Failure of development of nasal cartilage" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Missing cartilage of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Missing nasal cartilage" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:C562753 xref: SNOMEDCT_US:232381002 xref: UMLS:C4022669 xref: UMLS:C4082198 is_a: HP:0030027 ! Abnormality of the nasal cartilage [Term] id: HP:0030029 name: Splayed fingers def: "Divergence of digits along the A/P axis (in the plane of the palm)." [eom:ebc67f029da3caac, pmid:19125433] comment: This may be associated with Macrodactyly, but this should be assessed and coded separately. The affected digits should be specified. synonym: "Splayed fingers" EXACT layperson [] synonym: "Spreading of the fingers" EXACT layperson [] xref: UMLS:C4021057 is_a: HP:0001167 ! Abnormality of finger [Term] id: HP:0030030 name: Absent ray def: "The absence of all phalanges of a digit and the associated metacarpal /metatarsal." [eom:603438e0616f4f69, pmid:19125433] comment: This descriptor requires, in addition to the absence of the phalanges, absence of the metacarpal or metatarsal. Compare this to Absent thumb, Absent hallux, Absent toes, and Absent fingers. In most cases, the absent metacarpal or metatarsal can be assessed by palpation, but in some cases radiographs may be useful. This definition excludes Split hand and Split foot. If a patient meets the definition of either of those terms, they should be used and Absent ray should not. xref: UMLS:C4022668 is_a: HP:0002813 ! Abnormality of limb bone morphology [Term] id: HP:0030031 name: Small toe def: "Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual." [eom:4d06c726e63758c5, pmid:19125433] comment: This is an acknowledged bundled term. There are no standards for this finding, clinical judgment must be used. The affected toes should be numbered. synonym: "Small toe" EXACT layperson [] xref: UMLS:C4022667 is_a: HP:0001991 ! Aplasia/Hypoplasia of toe [Term] id: HP:0030032 name: Partial absence of foot def: "An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals." [eom:6a2c173d3d7e3219, pmid:19125433] synonym: "Partial absence of foot" EXACT layperson [] xref: UMLS:C4022666 is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet [Term] id: HP:0030033 name: Small finger def: "Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual." [eom:5b823be1388221a1, pmid:19125433] comment: This is a bundled term, comprising Short finger and Slender digit, but it is so widely used that it is included. This term is only used if the finger has the normal number of phalangeal segments. An appropriate alternative term for the first digit is Small thumb, when it is the only digit affected. When a thumb and one or more fingers are affected, it may be more economical to specify Small fingers, F1-5 instead of separately specifying Small thumb and Small fingers F2-5. synonym: "Small finger" EXACT layperson [] xref: SNOMEDCT_US:299058009 xref: UMLS:C0575827 is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers [Term] id: HP:0030034 name: Diffuse glomerular basement membrane lamellation def: "Presence of abnormal additional layers of the basement membrane of the glomerulus." [] synonym: "Diffuse lamellation of the glomerular basement membrane" EXACT [] xref: pmid:10199473 xref: pmid:12089752 xref: UMLS:C3278307 is_a: HP:0000095 ! Abnormality of renal glomerulus morphology [Term] id: HP:0030035 name: Struvite nephrolithiasis def: "Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones)." [] synonym: "Struvite kidney stones" EXACT [] xref: UMLS:C4021056 is_a: HP:0000787 ! Nephrolithiasis [Term] id: HP:0030036 name: Isothenuria def: "Inability of the kidneys to produce either concentrated or dilute urine." [] comment: Isothenuria is seen in the final stages of renal failure. It reflects rapid flushing of fluid through the tubules in renal failure as the number of functioning nephrons decreases; the normal concentrating (particularly) and diluting mechanisms of the kidney do not have time to function. The consequence is that the specific gravity of the urine becomes approximately the same as that of the glomerular filtrate. xref: UMLS:C4022665 is_a: HP:0012211 ! Abnormal renal physiology [Term] id: HP:0030037 name: Bifid ureter def: "Incomplete duplication of the ureter." [] xref: pmid:23513084 xref: UMLS:C3887498 is_a: HP:0000073 ! Ureteral duplication [Term] id: HP:0030038 name: Enchondroma def: "A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus." [] comment: Most patients have no symptoms. Enchondromas are often identified as incidental findings on X-ray examinations. Enchondromas usually have a radiographic appearance that is long and oval with well-defined margins. xref: MSH:D002812 xref: SNOMEDCT_US:31186001 xref: SNOMEDCT_US:423699002 xref: UMLS:C1704356 is_a: HP:0010622 ! Neoplasm of the skeletal system [Term] id: HP:0030039 name: Fused thoracic vertebrae def: "A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another." [] xref: UMLS:C4022664 is_a: HP:0002948 ! Vertebral fusion [Term] id: HP:0030040 name: Fused lumbar vertebrae def: "A congenital anomaly characterized by a joining (fusion) of two or more lumbar vertebral bodies with one another." [] xref: UMLS:C4022663 is_a: HP:0002948 ! Vertebral fusion [Term] id: HP:0030041 name: Schmorl's node def: "A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra." [] comment: Schmorl's nodes (SN) are common findings on imaging, and although most SNs are asymptomatic, some have been shown to become painful lesions. synonym: "Schmorl's nodes" EXACT [HPO:skoehler] xref: pmid:22544358 xref: SNOMEDCT_US:45181002 xref: UMLS:C0410632 is_a: HP:0003468 ! Abnormal vertebral morphology [Term] id: HP:0030042 name: Incomplete ossification of pubis def: "Failure to complete ossification (maturation and calcification) of the pubic bone." [] synonym: "Incomplete maturation of the public bone" RELATED layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:373940002 xref: UMLS:C0685678 is_a: HP:0009105 ! Abnormal ossification of the pubic bone [Term] id: HP:0030043 name: Hip subluxation def: "A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket." [] synonym: "Partial hip dislocation" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Subluxation involving the hip joint" EXACT [] xref: SNOMEDCT_US:263057000 xref: UMLS:C0434785 is_a: HP:0001384 ! Abnormality of the hip joint [Term] id: HP:0030044 name: Flexion contracture of digit def: "A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints." [] xref: UMLS:C1839864 is_a: HP:0001371 ! Flexion contracture [Term] id: HP:0030045 name: Serpentine fibula def: "Elongated curved (S-shaped) fibulae." [] synonym: "S-shaped calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: pmid:21712856 xref: pmid:3409932 xref: UMLS:C3805325 is_a: HP:0002991 ! Abnormality of fibula morphology [Term] id: HP:0030046 name: Hypoglycosylation of alpha-dystroglycan def: "A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue." [] comment: Alpha-dystroglycan is a component of the Dystrophin Associated Protein complex (DAP) which binds to various ligands in the extracellular matrix of muscle and other tissues, including laminin-alpha2, perlecan, neurexin and agrin. Disruption of the interaction between alpha-dystroglycan and its ligands has severe consequences for muscle and brain function and structure. The pathological hallmark is reduced immunolabeling of skeletal muscle with antibodies recognizing glycosylated epitopes on alpha-dystroglycan. xref: pmid:18691338 xref: UMLS:C4015098 is_a: HP:0030112 ! Abnormal muscle fiber alpha dystroglycan [Term] id: HP:0030047 name: Abnormality of lateral ventricle def: "A morphological anomaly of the lateral ventricle." [] comment: There are two lateral ventricles, one on each side of the brain. The lateral ventricle resembles a C-shaped structure that begins at an inferior horn in the temporal lobe, travels through a body in the parietal lobe and frontal lobe, and ultimately terminates at the interventricular foramen of Monro where each lateral ventricle connects to the central third ventricle. xref: UMLS:C4022662 is_a: HP:0002118 ! Abnormality of the cerebral ventricles [Term] id: HP:0030048 name: Colpocephaly def: "Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles." [] xref: MSH:C535973 xref: pmid:4058748 xref: SNOMEDCT_US:253160006 xref: UMLS:C0431384 is_a: HP:0030047 ! Abnormality of lateral ventricle [Term] id: HP:0030049 name: Brain abscess def: "A collection of pus, immune cells, and other material in the brain." [] comment: Brain abscess usually results from a bacterial or fungal infection. synonym: "Brain abscess" EXACT layperson [] xref: MSH:D001922 xref: SNOMEDCT_US:441806004 xref: UMLS:C0006105 is_a: HP:0011450 ! Unusual CNS infection is_a: HP:0025615 ! Abscess [Term] id: HP:0030050 name: Narcolepsy def: "An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis." [] comment: There are two distinct groups of patients with narcolepsy, ie, those having narcolepsy with cataplexy and those having narcolepsy without cataplexy. xref: MSH:D009290 xref: pmid:21931493 xref: SNOMEDCT_US:60380001 xref: UMLS:C0027404 is_a: HP:0002360 ! Sleep disturbance [Term] id: HP:0030051 name: Tip-toe gait alt_id: HP:0002394 def: "An abnormal gait pattern characterized by the failue of the heel to contact the floor at the onset of stance during gait." [pmid:24757457] comment: Heel-to-toe gait is normally achieved in children around three years of age, after which tip-toe gait must be differentiated from habitual toe gait, congenital short tendo calcaneus, cerebral palsy, syringomyelia, spinal tumor, hematoma in a lower limb muscle, or neuromuscular diseases like muscular dystrophy, Charcot-Marie-Tooth disease and hereditary sensorimotor neuropathies. If the toe gait persists for 2-3 years, this gait pattern is not considered to be habitual. Therefore, the judgment of habitual toe gait should not be determined without evaluation for other diseases. synonym: "Walking on tiptoes" EXACT layperson [] xref: UMLS:C1843570 is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0030052 name: Inguinal freckling def: "The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin." [] synonym: "Freckles in groin region" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1834297 is_a: HP:0001480 ! Freckling [Term] id: HP:0030053 name: Stiff skin def: "An induration (hardening) of the skin" [] synonym: "Indurated skin" EXACT [] synonym: "Stiff skin" EXACT layperson [] xref: UMLS:C3276815 is_a: HP:0011121 ! Abnormality of skin morphology [Term] id: HP:0030054 name: Perifollicular fibrosis def: "Presence of excess fibrous connective tissue surrounding hair follicules." [] xref: UMLS:C2748531 is_a: HP:0031285 ! Abnormal perifollicular morphology [Term] id: HP:0030055 name: Hyperconvex toenail def: "When viewed on end (with the tip of the toe pointing toward the examiner's eye) the curve of the toenail forms a tighter curve of convexity." [] xref: UMLS:C4022661 is_a: HP:0001795 ! Hyperconvex nail [Term] id: HP:0030056 name: Uncombable hair def: "Hair that is disorderly, stands out from the scalp, and cannot be combed flat." [] synonym: "Uncombable hair" EXACT layperson [] xref: UMLS:C1860607 is_a: HP:0010719 ! Abnormality of hair texture [Term] id: HP:0030057 name: Autoimmune antibody positivity def: "The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues." [] xref: UMLS:C4022660 is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0030058 name: Sickled erythrocytes def: "An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains)." [] xref: UMLS:C2237347 is_a: HP:0004447 ! Poikilocytosis [Term] id: HP:0030059 name: Mitochondrial depletion def: "An abnormal reduction in mitochondrial DNA content of cells." [pmid:23385875] xref: UMLS:C4022659 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0030060 name: Nervous tissue neoplasm def: "A neoplasm derived from nervous tissue (not necessarity a neoplasm located in the nervous system)." [] xref: MSH:D009380 xref: UMLS:C0027665 is_a: HP:0011792 ! Neoplasm by histology [Term] id: HP:0030061 name: Neuroectodermal neoplasm def: "A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells." [] xref: MSH:D017599 xref: SNOMEDCT_US:253096008 xref: SNOMEDCT_US:73676002 xref: UMLS:C0206093 is_a: HP:0030060 ! Nervous tissue neoplasm [Term] id: HP:0030062 name: Craniopharyngioma def: "A benign pituitary-region neoplasm that originates from Rathke's pouch. Craniopharyngiomas are benign slow growing tumours that are located within the sellar and para sellar region of the central nervous system." [pmid:17425791] comment: Patients may present with bitemporal inferior quadrantanopia leading to bitemporal hemianopia, since the tumor may compress the optic chiasm. xref: MSH:D003397 xref: SNOMEDCT_US:189179009 xref: SNOMEDCT_US:40009002 xref: UMLS:C0010276 is_a: HP:0030061 ! Neuroectodermal neoplasm [Term] id: HP:0030063 name: Neuroepithelial neoplasm def: "A neoplasm composed of neural epithelium, not necessarily a neoplasm located in the neural epithelium or neuroepithelium." [] xref: MSH:D018302 xref: UMLS:C0206715 is_a: HP:0030061 ! Neuroectodermal neoplasm [Term] id: HP:0030064 name: Neurocytoma def: "A benign brain tumor composed of neural elements which most often arise from the septum pellucidum and the walls of the lateral ventricles." [] comment: Immunohistochemistry and electron microscopy evaluations may reveal expression of neuron specific enolase and synaptophysin and cells containing microtubuli, neurosecretory granules, and presynaptic vesicles. xref: MSH:D018306 xref: SNOMEDCT_US:128858006 xref: UMLS:C1622510 is_a: HP:0030063 ! Neuroepithelial neoplasm [Term] id: HP:0030065 name: Primitive neuroectodermal tumor def: "A tumor that originates in cells from the primitive neural crest. This group of tumors is characteirzed by the presence of primitive cells with elements of neuronal and/or glial differentiation." [] xref: MSH:D018242 xref: SNOMEDCT_US:39781001 xref: SNOMEDCT_US:55045006 xref: SNOMEDCT_US:699028006 xref: UMLS:C0206663 is_a: HP:0030063 ! Neuroepithelial neoplasm [Term] id: HP:0030066 name: Ependymoblastoma def: "A highly malignant embryonal tumor of infancy and young childhood characterized by neuroectodermal elements organized in distinctive multilayered rosettes. Ependymoblastomas are large lesions that occur in the supratentorial compartment, typically displaying a physical connection to the ventricular system." [] comment: Ependymoblastoma is a rare tumor that occurs in infants and young children in the first two years of life. Both sexes are affected equally. Patients present with signs and symptoms of raised intracranial pressure and hydrocephalus. Focal neurological signs may be present in older children. On MRI, ependymoblastomas are large heterogeneously enhancing lesion with associated brain edema and mass effect. Ependymoblastomas are well-circumscribed lesions, with a distinct margin between tumor and normal brain, though focal microscopic extension and leptomeningeal invasion are common. Histologically, an ependymoblastoma is a primitive neuroectodermal tumor with tumor cell arranged in multilayered rosettes consisting of an outer rim of tumor cells merging with the surrounding undifferentiated neuroectodermal cells. The tumor cells are immunopositive for S100, vimentin, cytokeratin and GFAP, and show high mitotic activity. xref: MSH:D018242 xref: SNOMEDCT_US:21589007 xref: SNOMEDCT_US:715901002 xref: UMLS:C0700367 is_a: HP:0030070 ! Central primitive neuroectodermal tumor [Term] id: HP:0030067 name: Peripheral primitive neuroectodermal neoplasm def: "A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone." [] xref: MSH:D018241 xref: SNOMEDCT_US:253096008 xref: SNOMEDCT_US:703707001 xref: SNOMEDCT_US:73676002 xref: UMLS:C0684337 is_a: HP:0030065 ! Primitive neuroectodermal tumor [Term] id: HP:0030068 name: Olfactory esthesioneuroblastoma def: "A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate." [] xref: MSH:D018304 xref: SNOMEDCT_US:422886007 xref: SNOMEDCT_US:68614005 xref: SNOMEDCT_US:76060004 xref: UMLS:C0206717 is_a: HP:0003006 ! Neuroblastoma [Term] id: HP:0030069 name: Primary central nervous system lymphoma def: "A form of extranodal, high-grade non-Hodgkin B-cell neoplasm, usually large cell or immunoblastic type that originates in the brain, leptomeninges, spinal cord, or eyes and typically remains confined to the CNS." [pmid:23696924] comment: Primary central nervous system lymphoma (PCNSL) is defined as the involvement of brain, leptomeninges, cerebrospinal fluid, eyes or spinal cord by an extranodal non-Hodgkin lymphoma (NHL) without evidence of a systemic lymphoma at the time of diagnosis. It represents 0.8 to 6.6% of all primary CNS tumors synonym: "Primary CNS lymphoma" EXACT HP:0045077 [] xref: SNOMEDCT_US:21964009 xref: SNOMEDCT_US:307649006 xref: UMLS:C0280803 is_a: HP:0012539 ! Non-Hodgkin lymphoma [Term] id: HP:0030070 name: Central primitive neuroectodermal tumor def: "A primitive neuroectodermal neoplasm that occurs in the central nervous system." [] xref: SNOMEDCT_US:39781001 xref: UMLS:C3887678 is_a: HP:0030065 ! Primitive neuroectodermal tumor [Term] id: HP:0030071 name: Medulloepithelioma def: "A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal." [pmid:17566306] comment: Medulloepithelioma is a rare primitive neuroectodermal tumour of the central nervous system usually developing in childhood, displaying highly malignant behaviour, with early progression or recurrence. xref: MSH:D018242 xref: SNOMEDCT_US:39005004 xref: SNOMEDCT_US:715903004 xref: UMLS:C0334596 is_a: HP:0030070 ! Central primitive neuroectodermal tumor [Term] id: HP:0030072 name: Paranasal sinus neoplasm def: "A tumor that originates in the paranasal sinus." [] synonym: "Neoplasm of the paranasal sinuses" EXACT [ORCID:0000-0001-5889-4463] synonym: "Tumor of the paranasal sinuses" NARROW [ORCID:0000-0001-5889-4463] xref: MSH:D010255 xref: NCIT:C3262 xref: SNOMEDCT_US:126675008 xref: UMLS:C0030470 is_a: HP:0000245 ! Abnormality of the paranasal sinuses is_a: HP:0012720 ! Neoplasm of the nose [Term] id: HP:0030073 name: obsolete Pharyngeal neoplasm is_obsolete: true replaced_by: HP:0100638 [Term] id: HP:0030074 name: Chemodectoma def: "A usually benign neoplasm originating in the chemoreceptor tissue of the cartodi body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract." [] synonym: "Chemodectomas" EXACT [] xref: MSH:D002345 xref: SNOMEDCT_US:127028003 xref: SNOMEDCT_US:30699005 xref: UMLS:C0007279 is_a: HP:0002668 ! Paraganglioma [Term] id: HP:0030075 name: Ductal carcinoma in situ def: "Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer." [pmid:24415964] xref: MSH:D002285 xref: SNOMEDCT_US:109889007 xref: SNOMEDCT_US:278053004 xref: SNOMEDCT_US:373176000 xref: SNOMEDCT_US:86616005 xref: UMLS:C0007124 is_a: HP:0100013 ! Neoplasm of the breast [Term] id: HP:0030076 name: Lobular carcinoma in situ xref: MSH:D000071960 xref: SNOMEDCT_US:109888004 xref: UMLS:C0279563 is_a: HP:0100013 ! Neoplasm of the breast [Term] id: HP:0030077 name: Bronchial neoplasm def: "A tumor originating in a bronchus." [] xref: MSH:D001984 xref: NCIT:C3262 xref: SNOMEDCT_US:126705004 xref: UMLS:C0006264 is_a: HP:0025426 ! Abnormal bronchus morphology is_a: HP:0100526 ! Neoplasm of the lung [Term] id: HP:0030078 name: Lung adenocarcinoma xref: MSH:C538231 xref: NCIT:C2852 xref: SNOMEDCT_US:254626006 xref: UMLS:C0152013 is_a: HP:0030358 ! Non-small cell lung carcinoma [Term] id: HP:0030079 name: Cervix cancer def: "A tumor of the uterine cervix." [] xref: MSH:D002583 xref: NCIT:C3262 xref: SNOMEDCT_US:363354003 xref: UMLS:C4048328 is_a: HP:0010784 ! Uterine neoplasm is_a: HP:0032241 ! Cervical neoplasm [Term] id: HP:0030080 name: Burkitt lymphoma def: "A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass." [] xref: MSH:D002051 xref: SNOMEDCT_US:118617000 xref: SNOMEDCT_US:22197008 xref: SNOMEDCT_US:277571004 xref: SNOMEDCT_US:397400006 xref: SNOMEDCT_US:77381001 xref: UMLS:C0006413 is_a: HP:0012539 ! Non-Hodgkin lymphoma [Term] id: HP:0030081 name: Punctate periventricular T2 hyperintense foci def: "Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter." [] xref: UMLS:C4022658 is_a: HP:0002518 ! Abnormality of the periventricular white matter is_a: HP:0030891 ! Periventricular white matter hyperdensities [Term] id: HP:0030082 name: Abnormal drinking behavior def: "Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption." [] comment: Note that this HPO term refers to an abnormal habit of drinking fluids but does not directly refer to an psychological disorder. synonym: "Abnormal drinking behavior" EXACT layperson [] xref: UMLS:C4022657 is_a: HP:0040202 ! Abnormal consumption behavior [Term] id: HP:0030083 name: Salt craving def: "An excessive desire to eat salt (sodium chloride) or salty foods." [] comment: Salt craving can be a sign of low salt levels, Addison's disease, Gitelman syndrome, and other diseases. synonym: "Salt craving" EXACT layperson [] xref: UMLS:C0240928 is_a: HP:0100738 ! Abnormal eating behavior [Term] id: HP:0030084 name: Clinodactyly def: "An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe)." [pmid:16252026] synonym: "Curvature of digit" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Permanent curving of the finger" EXACT layperson [orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:17268007 xref: UMLS:C0265610 xref: UMLS:C4280304 is_a: HP:0011297 ! Abnormal digit morphology [Term] id: HP:0030085 name: Abnormal CSF lactate level def: "Abnormal concentration of lactate in the cerebrospinal fluid." [HPO:probinson] xref: UMLS:C4022656 is_a: HP:0025454 ! Abnormal CSF metabolite level [Term] id: HP:0030086 name: Reduced CSF lactate def: "Decreased concentration of lactate in the cerebrospinal fluid." [] synonym: "Hypolactatorachia" EXACT [] xref: UMLS:C4022655 is_a: HP:0030085 ! Abnormal CSF lactate level [Term] id: HP:0030087 name: Abnormal serum testosterone level def: "An anomalous concentration of testosterone in the blood." [] synonym: "Abnormal testosterone level" BROAD layperson [HPO:skoehler] xref: SNOMEDCT_US:166458009 xref: UMLS:C0580454 xref: UMLS:C4022654 is_a: HP:0008373 ! Puberty and gonadal disorders is_a: HP:0030347 ! Abnormal circulating androgen level created_by: HPO:skoehler [Term] id: HP:0030088 name: Increased serum testosterone level def: "An elevated circulating testosterone level in the blood." [] synonym: "High serum testosterone level" EXACT [HPO:skoehler] synonym: "High serum testosterone levels" EXACT [HPO:skoehler] synonym: "Increased serum testosterone levels" EXACT [HPO:skoehler] synonym: "Increased testosterone" BROAD layperson [HPO:skoehler] xref: UMLS:C0241358 xref: UMLS:C4072885 is_a: HP:0030087 ! Abnormal serum testosterone level is_a: HP:0030348 ! Increased circulating androgen level created_by: HPO:skoehler [Term] id: HP:0030089 name: Abnormal muscle fiber protein expression def: "An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue." [] xref: UMLS:C4022653 is_a: HP:0004303 ! Abnormal muscle fiber morphology [Term] id: HP:0030090 name: Abnormal muscle fiber merosin expression def: "An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve." [HPO:probinson, pmid:2185464] xref: UMLS:C4022652 is_a: HP:0030089 ! Abnormal muscle fiber protein expression [Term] id: HP:0030091 name: Absent muscle fiber merosin def: "Lack of merosin protein in the muscle biopsy." [] synonym: "Absent merosin staining in muscle biopsy" EXACT [] synonym: "Absent muscle fiber laminin alpha 2" EXACT [] xref: UMLS:C4021055 is_a: HP:0030090 ! Abnormal muscle fiber merosin expression [Term] id: HP:0030092 name: Reduced muscle fiber merosin def: "A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue." [HPO:Probinson] xref: UMLS:C4022651 is_a: HP:0030090 ! Abnormal muscle fiber merosin expression [Term] id: HP:0030093 name: Abnormal muscle fiber laminin beta 1 def: "A deviation from normal of the amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1." [HPO:probinson, pmid:9400354, UToronto:HTrang] xref: UMLS:C4022650 is_a: HP:0030089 ! Abnormal muscle fiber protein expression [Term] id: HP:0030094 name: Reduced muscle fiber laminin beta 1 def: "A reduced amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1." [] xref: UMLS:C4022649 is_a: HP:0030093 ! Abnormal muscle fiber laminin beta 1 [Term] id: HP:0030095 name: Reduced muscle collagen VI def: "A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle." [UToronto:HTrang] synonym: "Reduced collagen 6 in muscle" EXACT [] xref: UMLS:C4021054 is_a: HP:0030089 ! Abnormal muscle fiber protein expression [Term] id: HP:0030096 name: Abnormal muscle fiber dystrophin expression def: "A deviation from normal in the amount of dystrophin in muscle fiber tissue. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina." [pmid:11917091, UToronto:HTrang] xref: UMLS:C4022648 is_a: HP:0030089 ! Abnormal muscle fiber protein expression [Term] id: HP:0030097 name: Absent muscle dystrophin expression def: "Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy." [pmid:11917091, UToronto:htrang] xref: UMLS:C4022647 is_a: HP:0030096 ! Abnormal muscle fiber dystrophin expression [Term] id: HP:0030098 name: Reduced muscle dystrophin expression def: "A decreased amount of dystrophin in muscle fiber tissue." [UToronto:htrang] synonym: "Reduced dystrophin staining in muscle" EXACT [] xref: UMLS:C4021053 is_a: HP:0030096 ! Abnormal muscle fiber dystrophin expression [Term] id: HP:0030099 name: Reduced muscle fiber alpha dystroglycan def: "Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly." [HPO:probinson, pmid:11592034, UToronto:htrang] xref: UMLS:C4022646 is_a: HP:0030112 ! Abnormal muscle fiber alpha dystroglycan [Term] id: HP:0030100 name: Abnormal muscle fiber alpha sarcoglycan def: "Deviation from normal in the amount of alpha sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines." [HPO:probinson, pmid:24843229, UToronto:htrang] xref: UMLS:C4022645 is_a: HP:0030089 ! Abnormal muscle fiber protein expression [Term] id: HP:0030101 name: Absent muscle fiber alpha sarcoglycan def: "Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy." [UToronto:htrang] xref: UMLS:C4022644 is_a: HP:0030100 ! Abnormal muscle fiber alpha sarcoglycan [Term] id: HP:0030102 name: Reduced muscle fiber alpha sarcoglycan def: "A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy." [UToronto:htrang] xref: UMLS:C4022643 is_a: HP:0030100 ! Abnormal muscle fiber alpha sarcoglycan [Term] id: HP:0030103 name: Abnormal muscle fiber beta sarcoglycan def: "Deviation from normal in the amount of beta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines." [HPO:probinson, pmid:24843229, UToronto:htrang] xref: UMLS:C4022642 is_a: HP:0030089 ! Abnormal muscle fiber protein expression [Term] id: HP:0030104 name: Abnormal muscle fiber gamma sarcoglycan def: "Deviation from normal in the amount of gamma sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines." [HPO:probinson, pmid:24843229, UToronto:htrang] xref: UMLS:C4022641 is_a: HP:0030089 ! Abnormal muscle fiber protein expression [Term] id: HP:0030105 name: Abnormal muscle fiber delta sarcoglycan def: "Deviation from normal in the amount of delta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines." [HPO:probinson, pmid:24843229, UToronto:htrang] xref: UMLS:C4022640 is_a: HP:0030089 ! Abnormal muscle fiber protein expression [Term] id: HP:0030106 name: Absent muscle fiber beta sarcoglycan def: "Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy." [UToronto:htrang] xref: UMLS:C4022639 is_a: HP:0030103 ! Abnormal muscle fiber beta sarcoglycan [Term] id: HP:0030107 name: Reduced muscle fiber beta sarcoglycan def: "Immunohistochemistry reveals reduced beta sarcoglycan protein in the muscle biopsy." [UToronto:htrang] xref: UMLS:C4022638 is_a: HP:0030103 ! Abnormal muscle fiber beta sarcoglycan [Term] id: HP:0030108 name: Reduced muscle fiber gamma sarcoglycan def: "Immunohistochemistry reveals reduced gamma sarcoglycan protein in the muscle biopsy." [UToronto:htrang] xref: UMLS:C4022637 is_a: HP:0030104 ! Abnormal muscle fiber gamma sarcoglycan [Term] id: HP:0030109 name: Absent muscle fiber gamma sarcoglycan def: "Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy." [UToronto:htrang] xref: UMLS:C4022636 is_a: HP:0030104 ! Abnormal muscle fiber gamma sarcoglycan [Term] id: HP:0030110 name: Absent muscle fiber delta sarcoglycan def: "Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy." [UToronto:htrang] xref: UMLS:C4022635 is_a: HP:0030105 ! Abnormal muscle fiber delta sarcoglycan [Term] id: HP:0030111 name: Reduced muscle fiber delta sarcoglycan xref: UMLS:C4022634 is_a: HP:0030105 ! Abnormal muscle fiber delta sarcoglycan [Term] id: HP:0030112 name: Abnormal muscle fiber alpha dystroglycan def: "A deviation from normal of muscle alpha-dystroglcan expression. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly." [] xref: UMLS:C4022633 is_a: HP:0030089 ! Abnormal muscle fiber protein expression [Term] id: HP:0030113 name: Abnormal muscle fiber dysferlin def: "A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-KDa transmembrane protein involved in calcium-mediated sarcolemma resealing." [HPO:probinson, pmid:24843229] xref: UMLS:C4022632 is_a: HP:0030089 ! Abnormal muscle fiber protein expression [Term] id: HP:0030114 name: Absent muscle fiber dysferlin def: "Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy." [UToronto:htrang] xref: UMLS:C4022631 is_a: HP:0030113 ! Abnormal muscle fiber dysferlin [Term] id: HP:0030115 name: Reduced muscle fiber dysferlin def: "Immunohistochemistry reveals reduced dysferlin protein in the muscle biopsy." [UToronto:htrang] xref: UMLS:C4022630 is_a: HP:0030113 ! Abnormal muscle fiber dysferlin [Term] id: HP:0030116 name: Abnormal muscle fiber emerin def: "A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue." [HPO:probinson] xref: UMLS:C4022629 is_a: HP:0030089 ! Abnormal muscle fiber protein expression [Term] id: HP:0030117 name: Absent muscle fiber emerin def: "Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy." [UToronto:htrang] xref: UMLS:C4022628 is_a: HP:0030116 ! Abnormal muscle fiber emerin [Term] id: HP:0030118 name: Reduced muscle fiber emerin def: "Immunohistochemistry reveals reduced emerin protein in the muscle biopsy." [UToronto:htrang] xref: UMLS:C4022627 is_a: HP:0030116 ! Abnormal muscle fiber emerin [Term] id: HP:0030119 name: Abnormal muscle fiber calpain-3 def: "A deviation from normal in the amount of calpain-3 in muscle tissue. Calpains are intracellular nonlysosomal cysteine proteases modulated by calcium ions. A typical calpain is a heterodimer composed of two distinct subunits, one large (over 80 kDa) and the other small (30 kDa). While only one gene encoding the small subunit has been demonstrated, there are many genes for the large one. CAPN3 is similar to ubiquitous Calpain 1 and 2 (m-calpain and micro-calpain), but contains specific insertion sequences (NS, IS1 and IS2). Calpains cleave target proteins to modify their properties, rather than breaking down the substrates." [HPO:probinson, pmid:24843229] xref: UMLS:C4022626 is_a: HP:0030089 ! Abnormal muscle fiber protein expression [Term] id: HP:0030120 name: Absent muscle fiber calpain-3 def: "Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue." [UToronto:htrang] xref: UMLS:C4022625 is_a: HP:0030119 ! Abnormal muscle fiber calpain-3 [Term] id: HP:0030121 name: Reduced muscle fiber calpain-3 def: "Western blot reveals reduced calpain-3 protein in the muscle biopsy tissue." [UToronto:htrang] xref: UMLS:C4022624 is_a: HP:0030119 ! Abnormal muscle fiber calpain-3 [Term] id: HP:0030122 name: Reduced muscle fiber perlecan def: "Immunohistochemistry reveals reduced perlecan protein in the muscle biopsy. Perlecan is a basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) also known as heparan sulfate proteoglycan 2 (HSPG2)." [HPO:probinson, UToronto:htrang] xref: UMLS:C4022623 is_a: HP:0030089 ! Abnormal muscle fiber protein expression [Term] id: HP:0030123 name: Abnormal muscle fiber lamin A/C def: "A deviation from the normal amount of lamin A/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation." [HPO:probinson, pmid:24843229] xref: UMLS:C4022622 is_a: HP:0030089 ! Abnormal muscle fiber protein expression [Term] id: HP:0030124 name: Reduced muscle fiber lamin A/C def: "A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry of Western blotting of muscle tissue." [HPO:probinson, UToronto:htrang] xref: UMLS:C4022621 is_a: HP:0030123 ! Abnormal muscle fiber lamin A/C [Term] id: HP:0030125 name: Sacralization of the fifth lumbar vertebra def: "A congenital anomaly, in which the transverse process of the last lumbar vertebra (L5) fuses to the sacrum on one side or both, or to ilium, or both." [UToronto:bgallinger] comment: This anomaly is observed at about 3.5 percent of people and is usually bilateral. synonym: "L5 sacralization" EXACT [] xref: UMLS:C4021052 is_a: HP:0002948 ! Vertebral fusion [Term] id: HP:0030126 name: Abnormality of the endometrium def: "An anomaly of the inner mucous membrane of the uterus." [HPO:probinson] xref: UMLS:C4022620 is_a: HP:0031105 ! Abnormal uterus morphology [Term] id: HP:0030127 name: Endometriosis alt_id: HP:0030013 def: "The growth of endometrial tissue outside the uterus." [HPO:probinson, pmid:25221341] comment: The main manifestations of endometriosis are chronic upper abdominal pain and infertility. Endometriosis occurs primarily on the pelvic peritoneum, ovaries, and rectovaginal septum, and in rare cases on the diaphragm, pleura, and pericardium. Endometriosis affects 6 to 10% of women of reproductive age, 50 to 60% of women and teenage girls with pelvic pain, and up to 50% of women with infertility. Peritoneal disease, which is dependent on estrogen for growth, derives from retrograde menstruation of steroid hormone sensitive endometrial cells and tissues, which implant on peritoneal surfaces and elicit an inflammatory response. This response is accompanied by angiogenesis, adhesions, fibrosis, scarring, neuronal infiltration, and anatomical distortion resulting in pain and infertility. xref: MSH:D004715 xref: SNOMEDCT_US:129103003 xref: SNOMEDCT_US:396224008 xref: UMLS:C0014175 is_a: HP:0030012 ! Abnormal female reproductive system physiology is_a: HP:0030126 ! Abnormality of the endometrium [Term] id: HP:0030129 name: Impaired ristocetin cofactor assay activity def: "Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma." [HPO:cmiller] comment: Ristocetin induced platelet agglutination (RIPA) is similar to the Ristocetin Cofactor Assay but RIPA measures platelet agglutination induced by Ristocetin-mediated VWF binding to the platelet Gp1b receptor. WITH RIPA, the ristocetin is added directly to the patient's platelet rich plasma and there are no serial dilutions of the plasma sample. xref: UMLS:C4022619 is_a: HP:0012146 ! Abnormality of von Willebrand factor [Term] id: HP:0030130 name: Impaired von Willibrand factor collagen binding activity def: "Reduced ability of von Willibrand factor (vWF) to bind collagen. Abnormal response to collagen as manifested by reduced or lacking ability of plasma von WIllebrand Factor to bind collagen. An ELISA-based assay is typically used; the test is sensitive to loss of von Willebrand Factor high molecular weight multimers." [HPO:cmiller, pmid:18809794] comment: This abnormality may be seen in von Willibrand disease type 1, type 2A, type 2B, and type 3. xref: UMLS:C4022618 is_a: HP:0012146 ! Abnormality of von Willebrand factor [Term] id: HP:0030131 name: Abnormal von Willebrand factor multimer distribution def: "Deviation from the normal von Willebrand factor multimer pattern." [HPO:cmiller] xref: UMLS:C4022617 is_a: HP:0012146 ! Abnormality of von Willebrand factor [Term] id: HP:0030132 name: Absence of large von Willibrand factor multimers def: "Absence of large von Willebrand Factor multimers on gel electrophoresis." [HPO:cmiller] comment: Type 2B von Willibrand disease is characterized by lack of large von Willibrand factor multimers with an otherwise normal von Willibrand factor multimer pattern. xref: UMLS:C4022616 is_a: HP:0030131 ! Abnormal von Willebrand factor multimer distribution [Term] id: HP:0030133 name: Abnormal presence of ultra-large von Willebrand factor multimers def: "Detection of abnormal ultra-large von Willebrand factor multimers." [HPO:cmiller, pmid:11756169, PMID:25983111] comment: The type Vicenza variant of von Willebrand disease (VWD) is characterized by a low plasma von Willebrand factor (VWF) level and supranormal VWF multimers. xref: UMLS:C4022615 is_a: HP:0030131 ! Abnormal von Willebrand factor multimer distribution [Term] id: HP:0030134 name: Total absence von Willebrand factor multimers def: "Complete absence of all von Willebrand factor multimers." [HPO:cmiller] xref: UMLS:C4022614 is_a: HP:0030131 ! Abnormal von Willebrand factor multimer distribution [Term] id: HP:0030135 name: Absence of intermediate von Willibrand factor multimers def: "Lack of intermediate von Willebrand Factor multimers on gel electrophoresis." [HPO:cmiller] comment: Type 2A von Willibrand disease is characterized by the absence of large and intermediate von Willebrand Factor multimers on gel electrophoresis, with preservation of an otherwise normal multimer pattern. xref: UMLS:C4022613 is_a: HP:0030131 ! Abnormal von Willebrand factor multimer distribution [Term] id: HP:0030136 name: Enhanced ristocetin cofactor assay activity def: "Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma." [HPO:cmiller] comment: This abnormality is characteristic of type 2B von Willibrand disease. xref: UMLS:C4022612 is_a: HP:0012146 ! Abnormality of von Willebrand factor [Term] id: HP:0030137 name: Prolonged bleeding following circumcision def: "Bleeding that persists for a longer than usual time following circumcision." [] synonym: "Prolonged bleeding following circumcision" EXACT layperson [] xref: UMLS:C4022611 is_a: HP:0011890 ! Prolonged bleeding following procedure [Term] id: HP:0030138 name: Excessive bleeding from superficial cuts def: "An abnormally increased degree of bleeding following a superfical injury to the surface of the skin." [HPO:cmiller] synonym: "Excessive bleeding from superficial cuts" EXACT layperson [] xref: UMLS:C4022610 is_a: HP:0001892 ! Abnormal bleeding [Term] id: HP:0030139 name: Excessive bleeding after a venipuncture def: "An abnormal high amount of bleeding following the procedure of taking a blood sample." [HPO:cmiller] xref: UMLS:C4022609 is_a: HP:0001892 ! Abnormal bleeding [Term] id: HP:0030140 name: Oral cavity bleeding def: "Recurrent or excessive bleeding from the mouth." [HPO:cmiller] synonym: "Bleeding from mouth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Oral cavity bleeding" EXACT layperson [] synonym: "Oral cavity hemorrhage" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4022608 is_a: HP:0001892 ! Abnormal bleeding is_a: HP:0031815 ! Abnormal oral physiology [Term] id: HP:0030141 name: Abnormality of the posterior hairline def: "An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair and that does not." [HPO:probinson] synonym: "Abnormality of hairline at back of head" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4022607 is_a: HP:0009553 ! Abnormality of the hairline [Term] id: HP:0030142 name: Abnormal bowel sounds def: "An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis." [] synonym: "Abnormal bowel sounds" EXACT layperson [] xref: SNOMEDCT_US:60612008 xref: UMLS:C0159060 is_a: HP:0011458 ! Abdominal symptom [Term] id: HP:0030143 name: Hyperactive bowel sounds def: "An increased amount of bowel sounds." [HPO:probinson] synonym: "Increased bowel sounds" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:18101008 xref: UMLS:C0232694 is_a: HP:0030142 ! Abnormal bowel sounds [Term] id: HP:0030144 name: Hypoactive bowel sounds def: "An decreased amount of bowel sounds." [HPO:probinson] synonym: "Decreased bowel sounds" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:15280003 xref: UMLS:C0232695 is_a: HP:0030142 ! Abnormal bowel sounds [Term] id: HP:0030145 name: Lack of bowel sounds def: "Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope." [HPO:probinson] comment: This feature reflects lack of intestinal activity. synonym: "Lack of bowel sounds" EXACT layperson [] xref: UMLS:C4022606 is_a: HP:0030142 ! Abnormal bowel sounds [Term] id: HP:0030146 name: Abnormal liver parenchyma morphology def: "A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells." [HPO:probinson, PMID:11157536] xref: UMLS:C4022605 is_a: HP:0410042 ! Abnormal liver morphology [Term] id: HP:0030147 name: Truncal titubation def: "Tremor of the trunk in an anterior-posterior plane at 3-4 Hz." [HPO:probinson] xref: UMLS:C2674512 is_a: HP:0030187 ! Titubation [Term] id: HP:0030148 name: Heart murmur def: "An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart." [HPO:probinson] comment: Heart murmurs can be appreciated by auscultation of the heart by stethoscope. Murmurs can be further categorized by intensity (6 grades), duration, timing (systolic, diastolic, or continuous), location, transmission, and quality (musical, vibratory, blowing, etc). synonym: "Cardiac murmur" EXACT [] synonym: "Cardiac murmurs" EXACT [] synonym: "Heart murmur" EXACT layperson [] synonym: "Heart murmurs" EXACT layperson [] xref: MSH:D006337 xref: SNOMEDCT_US:414786004 xref: SNOMEDCT_US:421493004 xref: SNOMEDCT_US:88610006 xref: UMLS:C0018808 is_a: HP:0031657 ! Abnormal heart sound [Term] id: HP:0030149 name: Cardiogenic shock def: "Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume." [pmid:24188221] comment: Cardiogenic shock can result from a number of different of cardiac insults, the most common of which is acute myocardial infarction. synonym: "Cardiovascular shock" EXACT [] xref: MSH:D012770 xref: SNOMEDCT_US:89138009 xref: UMLS:C0036980 is_a: HP:0031273 ! Shock [Term] id: HP:0030150 name: Plasmacytosis def: "An abnormally increased number of plasma cells in tissues, exudates, or blood" [] comment: A plasma cells (also known as plasma B cell, plasmocyte, or effector B cell), is a short-lived antibody-producing cell derived from a B lymphocyte. xref: UMLS:C0549295 is_a: HP:0004332 ! Abnormal lymphocyte morphology [Term] id: HP:0030151 name: Cholangitis def: "Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both." [HPO:probinson, PMID:21994886] comment: Cholangitis is characterized by biliary epithelial damage with inflammatory cell infiltration. Some cholangitis is also associated with ductal and periductal fibrosis. synonym: "Bile duct inflammation" EXACT layperson [] xref: MSH:D002761 xref: SNOMEDCT_US:82403002 xref: UMLS:C0008311 is_a: HP:0012440 ! Abnormal biliary tract morphology is_a: HP:0012649 ! Increased inflammatory response [Term] id: HP:0030152 name: obsolete Biliary tract neoplasm is_obsolete: true replaced_by: HP:0100574 [Term] id: HP:0030153 name: Cholangiocarcinoma def: "Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension." [HPO:probinson, pmid:18536057, pmid:8268770] synonym: "Bile duct cancer" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D018281 xref: NCIT:C3262 xref: SNOMEDCT_US:312104005 xref: SNOMEDCT_US:70179006 xref: UMLS:C0206698 is_a: HP:0100574 ! Biliary tract neoplasm [Term] id: HP:0030154 name: Gallbladder perforation def: "Rupture of the wall of the gallbladder." [HPO:probinson, pmid:22210542] comment: Clinical presentation of a ruptured gallbladder can range from an acute generalised peritonitis to benign non-specific abdominal symptom. Gallbladder perforation is a rare but life-threatening complication of acute cholecystitis, with a reported mortality rate of 12 to 42 percent. The bile leak from a ruptured gallbladder might be contained in the extra peritoneal gallbladder fossa, and hence might not produce symptoms of peritonitis immediately. synonym: "Gall bladder perforation" EXACT [] xref: SNOMEDCT_US:25345001 xref: UMLS:C0156215 is_a: HP:0012437 ! Abnormal gallbladder morphology [Term] id: HP:0030155 name: Scrotal pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the scrotum." [] synonym: "Scrotal pain" EXACT layperson [] xref: SNOMEDCT_US:20502007 xref: UMLS:C0236078 is_a: HP:0000045 ! Abnormality of the scrotum is_a: HP:0012531 ! Pain [Term] id: HP:0030156 name: Bence Jones Proteinuria def: "The presence of free monoclonal immunoglobulin light chains in the urine." [HPO:probinson, pmid:7876381] comment: Bence Jones proteins are produced by neoplastic plasma cells and can be found in the context of multiple myeloma or Waldenstrom's macroglobulinemia. xref: SNOMEDCT_US:274771005 xref: UMLS:C0004968 is_a: HP:0000093 ! Proteinuria [Term] id: HP:0030157 name: Flank pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank." [] comment: The flank is the area on the side of the abdomen between the ribs and the hip. synonym: "Flank pain" EXACT layperson [] synonym: "Kidney pain" BROAD layperson [] xref: MSH:D021501 xref: SNOMEDCT_US:247355005 xref: UMLS:C0016199 is_a: HP:0012531 ! Pain [Term] id: HP:0030158 name: Cervical ectropion def: "Eversion of the endocervix with protrusion of the central (endocervical) columnar epithelium through the external os of the cervis into the vaginal milieu." [HPO:probinson, pmid:21270291] synonym: "Cervical ectopy" EXACT [] synonym: "Cervical erosion" RELATED [] xref: MSH:D002579 xref: SNOMEDCT_US:61253004 xref: SNOMEDCT_US:79342006 xref: UMLS:C0007869 xref: UMLS:C0269189 is_a: HP:0012888 ! Abnormality of the uterine cervix [Term] id: HP:0030159 name: Cervical polyp def: "Abnormal growth of tissue projecting from a mucous membrane of the endocervix." [HPO:probinson, pmid:21270291] synonym: "Cervical tumor" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D002583 xref: SNOMEDCT_US:123841004 xref: SNOMEDCT_US:65576009 xref: UMLS:C0007855 xref: UMLS:C0007873 is_a: HP:0012888 ! Abnormality of the uterine cervix [Term] id: HP:0030160 name: Cervicitis def: "Inflammation of the uterine cervix." [HPO:probinson, pmid:21270291] comment: Cervicitis, which most commonly presents as vaginal discharge or postcoital bleeding, can be acute or chronic, with an infectious or noninfectious etiology. synonym: "Uterine cervicitis" EXACT [] synonym: "Uterine cervix inflammation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D002575 xref: SNOMEDCT_US:37610005 xref: UMLS:C0007860 is_a: HP:0012888 ! Abnormality of the uterine cervix [Term] id: HP:0030161 name: Vaginal pruritus def: "A sensation of itching in the vagina." [] xref: SNOMEDCT_US:34363003 xref: UMLS:C0042256 is_a: HP:0000142 ! Abnormal vagina morphology is_a: HP:0000989 ! Pruritus [Term] id: HP:0030162 name: Glomerulomegaly def: "Abnormally large size of glomeruli." [HPO:probinson, pmid:21115671, pmid:9402101] comment: Glomerulomegaly is a histologic finding that can be present in idiopathic pulmonary hypertension, congenital cyanotic heart disease, morbid obesity associated with sleep apnea syndrome, sickle cell disease, and polycythemic states. xref: UMLS:C4022604 is_a: HP:0000095 ! Abnormality of renal glomerulus morphology [Term] id: HP:0030163 name: Abnormal vascular physiology def: "Abnormality of vascular function." [HPO:probinson] xref: UMLS:C4022603 is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0011025 ! Abnormal cardiovascular system physiology [Term] id: HP:0030164 name: Jaw claudication def: "Pain in the jaw or ear induced by chewing or otherwise moving the jaw." [HPO:probinson, pmid:12972467] synonym: "Jaw pain while chewing" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:43922008 xref: UMLS:C0239064 is_a: HP:0025323 ! Abnormal arterial physiology [Term] id: HP:0030165 name: Temporal artery tortuosity def: "The presence of an increased number of twists and turns of the temporal artery." [HPO:probinson] xref: UMLS:C4022602 is_a: HP:0005116 ! Arterial tortuosity [Term] id: HP:0030166 name: Night sweats def: "Occurence of excessive sweating during sleep." [HPO:probinson, pmid:23136329] comment: Nighttime sweating is a symptom linked to menopause, malignancies, autoimmune diseases, and infections. synonym: "Night sweats" EXACT layperson [] synonym: "Nocturnal hyperhidrosis" EXACT [] xref: SNOMEDCT_US:42984000 xref: UMLS:C0028081 is_a: HP:0025142 ! Constitutional symptom [Term] id: HP:0030167 name: Antimitochondrial antibody positivity def: "The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria." [HPO:probinson] synonym: "Serum antimitochrondrial antibodies" EXACT [] xref: UMLS:C4021051 is_a: HP:0030057 ! Autoimmune antibody positivity [Term] id: HP:0030168 name: Dilated superficial abdominal veins def: "Increase in diameter of the veins located underneath the skin of the abdomen." [pmid:5897968] comment: There are two major causes of dilated superficial abdominal veins: (i) Liver cirrhosis and (ii) vena cava obstruction. With cirrhosis, the blood in the veins flows from umbilicus to periphery. synonym: "Dilatation of the superficial abdominal veins" EXACT [] xref: UMLS:C4021050 is_a: HP:0001015 ! Prominent superficial veins [Term] id: HP:0030169 name: Gastric varix def: "Extreme dilation of the submucusoal veins in the stomach." [HPO:probinson, pmid:24891929] synonym: "Gastric varices" RELATED [] xref: MSH:D004932 xref: SNOMEDCT_US:91109007 xref: UMLS:C0017145 is_a: HP:0002577 ! Abnormality of the stomach [Term] id: HP:0030170 name: Cystic artery pseudoaneurysm def: "Presence of a pseudoaneurysm in the artery that supplies the gallbladder and cystic duct with blood. A pseudoaneurysm, also known as a false aneurysm, forms when blood leaks through a breach of the arterial wall but is contained by the adventitia or surrounding perivascular soft tissue." [HPO:probinson, pmid:24394852] xref: UMLS:C4022601 is_a: HP:0012437 ! Abnormal gallbladder morphology [Term] id: HP:0030171 name: Perirenal hematoma def: "A collection of clotted blood surrounding the kidney." [HPO:probinson, pmid:17963347, pmid:3360039] comment: The causes of a spontaneous perirenal hematoma (SPH) include immunologic disorders, neoplasms (renal cell carcinomas and adenomas), and collagen vascular diseases, but the main cause of a secondary perirenal hematoma is traumatic injury. xref: SNOMEDCT_US:197824007 xref: UMLS:C0473124 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0030172 name: Peripheral amyelination def: "Congenital absence of the myelin sheath on a nerve." [HPO:jbeats, pmid:22246888] xref: UMLS:C4022600 is_a: HP:0003130 ! Abnormal peripheral myelination [Term] id: HP:0030173 name: Peripheral hypermyelination def: "Increased amount of peripheral myelination." [HPO:probinson] synonym: "Increased peripheral myelination" EXACT [] xref: UMLS:C4021049 is_a: HP:0003130 ! Abnormal peripheral myelination [Term] id: HP:0030174 name: Increased peripheral myelin thickness def: "Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion." [HPO:jbeats] xref: UMLS:C4022599 is_a: HP:0030173 ! Peripheral hypermyelination [Term] id: HP:0030175 name: Myelin tomacula def: "The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage)." [HPO:jbeats, pmid:10727485] comment: Several mechanisms that may lead to the formation of a tomaculum-for example, hypermyelination, redundant loop formation, the presence of a second mesaxon, transnodal myelination, two Schwann cells forming one myelin sheath, and disruption of the myelin sheath. Sural nerve biopsies typically show regions of myelin thickening as well as features of demyelination and remyelination. synonym: "Tomacula" EXACT [] xref: UMLS:C4020904 is_a: HP:0030173 ! Peripheral hypermyelination [Term] id: HP:0030176 name: Asymmetric peripheral demyelination def: "Loss of myelin from peripheral nerves in a pattern that differs between right and left." [HPO:jbaets] comment: This feature may be observed in hereditary neuropathy with liability to pressure palsies, but also in acquired inflammatory neuropathies. xref: UMLS:C4022598 is_a: HP:0011096 ! Peripheral demyelination [Term] id: HP:0030177 name: Abnormality of peripheral nervous system electrophysiology def: "An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles." [] synonym: "Abnormal nerve conduction study" EXACT [] xref: UMLS:C0853150 is_a: HP:0001311 ! Abnormal nervous system electrophysiology [Term] id: HP:0030178 name: Abnormality of central nervous system electrophysiology synonym: "Abnormality of CNS electrophysiology" EXACT HP:0045077 [] xref: UMLS:C4022597 is_a: HP:0001311 ! Abnormal nervous system electrophysiology [Term] id: HP:0030179 name: Abnormal peripheral action potential amplitude def: "An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve." [] xref: UMLS:C4022596 is_a: HP:0003134 ! Abnormality of peripheral nerve conduction [Term] id: HP:0030180 name: Oppenheim reflex def: "Dorsiflexion of the big toe, sometimes accompanied by fanning of the other toes, elicited by stroking along the medial side of the tibia (the normal response would be no movement of the big toe)." [UKB:tklockgether] comment: This reflex can indicate affection of the corticospinal (pyramidal) tracts. synonym: "Oppenheim sign" EXACT [] xref: SNOMEDCT_US:414949005 xref: UMLS:C1532837 is_a: HP:0007256 ! Abnormal pyramidal sign [Term] id: HP:0030181 name: Gordon reflex def: "Dorsal extension of the big toe, sometimes accompanied by fanning of the other toes, elicited by compressing the calf muscles (a normal response is no movement of the big toe)." [pmid:18637037, UKT:rschuele] comment: Gordon's reflex indicates a lesion of the pyramidal tract. synonym: "Gordon sign" EXACT [] xref: UMLS:C4021048 is_a: HP:0007256 ! Abnormal pyramidal sign [Term] id: HP:0030182 name: Tetraplegia/tetraparesis def: "Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength." [] xref: UMLS:C4022595 is_a: HP:0010549 ! Weakness due to upper motor neuron dysfunction [Term] id: HP:0030183 name: Impaired visually enhanced vestibulo-ocular reflex def: "The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR)." [HPO:probinson, pmid:16954982] synonym: "Visually enhanced vestibulo-ocular reflex impairment" EXACT [] synonym: "VVOR impairment" EXACT [] xref: UMLS:C4021047 is_a: HP:0007670 ! Abnormal vestibulo-ocular reflex [Term] id: HP:0030185 name: Isometric tremor def: "An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist)." [HPO:probinson, pmid:21404980] synonym: "Dystonia tremor" RELATED [ORCID:0000-0001-6908-9849] xref: UMLS:C4022594 xref: UMLS:C4280303 is_a: HP:0002345 ! Action tremor [Term] id: HP:0030186 name: Kinetic tremor def: "Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor." [] synonym: "Essential tremor" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:D014202 xref: MSH:D020329 xref: SNOMEDCT_US:30721006 xref: SNOMEDCT_US:609558009 xref: UMLS:C0234376 xref: UMLS:C0270736 is_a: HP:0002345 ! Action tremor [Term] id: HP:0030187 name: Titubation def: "Nodding movement of the head or body." [HPO:probinson, pmid:4821687] xref: SNOMEDCT_US:78691002 xref: UMLS:C0231690 is_a: HP:0002345 ! Action tremor [Term] id: HP:0030188 name: Tremor by anatomical site def: "Tremor classified by the affected body part." [HPO:probinson] synonym: "Tremor of a body part" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4022593 is_a: HP:0001337 ! Tremor [Term] id: HP:0030190 name: Oral motor hypotonia def: "Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affetc the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior." [] xref: UMLS:C4022592 is_a: HP:0001252 ! Muscular hypotonia [Term] id: HP:0030191 name: Abnormal peripheral nervous system synaptic transmission def: "An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system." [] synonym: "Abnormal PNS synaptic transmission" EXACT [] xref: UMLS:C4021046 is_a: HP:0012535 ! Abnormal synaptic transmission [Term] id: HP:0030192 name: Fatigable weakness of bulbar muscles def: "A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [HPO:probinson, pmid:17986328, UNCL:mbertoli] xref: UMLS:C4022591 is_a: HP:0003473 ! Fatigable weakness [Term] id: HP:0030193 name: Fatigable weakness of chewing muscles def: "A type of weakness of the muscles involved in chewing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [pmid:17986328, UNCL:tevangelista] xref: UMLS:C4022590 is_a: HP:0030192 ! Fatigable weakness of bulbar muscles [Term] id: HP:0030194 name: Fatigable weakness of speech muscles def: "A type of weakness of the muscles involved in speech that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [pmid:17986328, UNCL:hlochmueller] xref: UMLS:C4022589 is_a: HP:0030192 ! Fatigable weakness of bulbar muscles [Term] id: HP:0030195 name: Fatigable weakness of swallowing muscles def: "A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [pmid:17986328, UK:rheller] xref: UMLS:C4022588 is_a: HP:0030192 ! Fatigable weakness of bulbar muscles [Term] id: HP:0030196 name: Fatigable weakness of respiratory muscles def: "A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [UNCL:mbertoli] xref: UMLS:C4022587 is_a: HP:0003473 ! Fatigable weakness [Term] id: HP:0030197 name: Fatigable weakness of skeletal muscles def: "A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [] xref: UMLS:C4022586 is_a: HP:0003473 ! Fatigable weakness [Term] id: HP:0030198 name: Fatigable weakness of distal limb muscles def: "A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [UK:rheller] xref: UMLS:C4022585 is_a: HP:0030197 ! Fatigable weakness of skeletal muscles [Term] id: HP:0030199 name: Fatigable weakness of neck muscles def: "A type of weakness of a skeletal muscle in the neck that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [UK:rheller] xref: UMLS:C4022584 is_a: HP:0030197 ! Fatigable weakness of skeletal muscles [Term] id: HP:0030200 name: Fatiguable weakness of proximal limb muscles def: "A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [UK:rheller] xref: UMLS:C4022583 is_a: HP:0030197 ! Fatigable weakness of skeletal muscles [Term] id: HP:0030201 name: Response to drugs acting on neuromuscular transmission def: "Specific drugs interfere selectively with the different cellular mechanisms involved in neuromuscular transmission (synthesis, storage, release, action and inactivation of transmitter). The response of a patient to a specific drug can therefore be useful information for the differential diagnosis." [UK:rheller] xref: UMLS:C4022582 is_a: HP:0030191 ! Abnormal peripheral nervous system synaptic transmission [Term] id: HP:0030202 name: Favorable response of weakness to acetylcholine esterase inhibitors def: "Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor." [UK:rheller] comment: An acetylcholinesterase inhibitor inhibits acetylcholinesterase from breaking down acetylcholine, thereby increasing both the level and duration of action of the neurotransmitter acetylcholine. For instance, edrophonium is a readily reversible acetylcholinesterase inhibitor that can be used to differentiate myasthenia gravis from cholinergic crisis. Edrophonium would improve muscle weakness in myasthenia gravis but not in cholinergic crisis. xref: UMLS:C4022581 is_a: HP:0030201 ! Response to drugs acting on neuromuscular transmission [Term] id: HP:0030203 name: Unfavorable response of muscle weakness to acetylcholine esterase inhibitors def: "Lack of improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor." [UK:rheller] comment: An acetylcholinesterase inhibitor inhibits acetylcholinesterase from breaking down acetylcholine, thereby increasing both the level and duration of action of the neurotransmitter acetylcholine. For instance, edrophonium is a readily reversible acetylcholinesterase inhibitor that can be used to differentiate myasthenia gravis from cholinergic crisis. Edrophonium would improve muscle weakness in myasthenia gravis but not in cholinergic crisis. xref: UMLS:C4022580 is_a: HP:0030201 ! Response to drugs acting on neuromuscular transmission [Term] id: HP:0030205 name: Increased jitter at single fibre EMG def: "The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG)." [pmid:21654930, UK:rheller] comment: Increased jitter values are not pathogonomic for myasthenia, but indicate disturbed neuromuscular transmission. synonym: "Increased jitter at single fibre electromyography" EXACT [] xref: UMLS:C4021045 is_a: HP:0030006 ! Single fiber EMG abnormality is_a: HP:0100285 ! EMG: impaired neuromuscular transmission [Term] id: HP:0030206 name: EMG: incremental response of compound muscle action potential to repetitive nerve stimulation def: "A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to an abnormal increase in the amplitude during the course of the investigation." [pmid:23970984, UK:rheller] comment: This feature may be observed with Lambert-Eaton Myasthenic Ssyndrome. xref: UMLS:C4022579 is_a: HP:0100285 ! EMG: impaired neuromuscular transmission [Term] id: HP:0030207 name: Paradoxical respiration def: "Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing." [HPO:tevangelista] synonym: "Flail chest" RELATED [] synonym: "Paradoxical breathing" EXACT [] xref: MSH:D005409 xref: SNOMEDCT_US:12025005 xref: SNOMEDCT_US:78011002 xref: UMLS:C0016196 xref: UMLS:C0231852 is_a: HP:0002793 ! Abnormal pattern of respiration [Term] id: HP:0030208 name: Acetylcholine receptor antibody positivity def: "The presence of autoantibodies (immunoglobulins) in the serum that react against the acetylcholine receptor." [UK:rheller] xref: UMLS:C4022578 is_a: HP:0030057 ! Autoimmune antibody positivity [Term] id: HP:0030209 name: Calcium channel antibody positivity def: "The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels." [pmid:7739683, UNCL:mbertoli] comment: This abnormality can be observed in patients with Lambert-Eaton syndrome and other paraneoplastic syndromes. synonym: "Ca channel antibody positivity" EXACT HP:0045077 [] synonym: "Ca2+ channel antibody positivity" EXACT HP:0045077 [] xref: UMLS:C4022577 is_a: HP:0030057 ! Autoimmune antibody positivity [Term] id: HP:0030210 name: Muscle specific kinase antibody positivity def: "The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab)." [pmid:22770539, UNCL:hlochmueller] synonym: "Anti-MUSK antibodies" EXACT [] xref: UMLS:C4021044 is_a: HP:0030057 ! Autoimmune antibody positivity [Term] id: HP:0030211 name: Slow pupillary light response def: "Reduced velocity and acceleration in the pupillary light response." [pmid:974056, UNCL:tevangelista] xref: UMLS:C4022576 is_a: HP:0007695 ! Abnormal pupillary light reflex [Term] id: HP:0030212 name: Collectionism def: "Excessive or pathological tendency to save and collect possessions." [] synonym: "Compulsive hoarding" EXACT layperson [] xref: SNOMEDCT_US:247968005 xref: UMLS:C0424290 is_a: HP:0000722 ! Obsessive-compulsive behavior [Term] id: HP:0030213 name: Emotional blunting def: "Lack of emotional reactivity and empathy for situations or persons, sometime also for family members." [ICM:PCaroppo] xref: SNOMEDCT_US:6140007 xref: UMLS:C0233469 is_a: HP:0100851 ! Abnormal emotion/affect behavior [Term] id: HP:0030214 name: Hypersexuality def: "Pathological persistent sexual disinhibiting behavior, directed at oneself or to others." [ICM:PCaroppo] synonym: "Sex addiction" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:73744004 xref: UMLS:C0312420 xref: UMLS:C0679145 is_a: HP:0008768 ! Inappropriate sexual behavior [Term] id: HP:0030215 name: Inappropriate crying def: "Uncontrolled episodes of crying, without apparent motivating stimuli." [ICM:PCaroppo] synonym: "Inappropriate crying" EXACT layperson [] xref: UMLS:C0860609 is_a: HP:0000719 ! Inappropriate behavior [Term] id: HP:0030216 name: Inertia def: "Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example)." [ICM:PCaroppo] xref: UMLS:C4022575 is_a: HP:0000745 ! Diminished motivation [Term] id: HP:0030217 name: Limb apraxia def: "Difficulty in performing the correct execution of limbs movements in absence of motor impairment." [ICM:PCaroppo] xref: UMLS:C4022574 is_a: HP:0002186 ! Apraxia [Term] id: HP:0030218 name: Punding def: "Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects." [ICM:PCaroppo, pmid:15077237, pmid:25452726] xref: UMLS:C1963933 is_a: HP:0000733 ! Stereotypy [Term] id: HP:0030219 name: Semantic dementia def: "A progressive loss of the ability to remember the meaning of words, faces and objects." [ICM:PCaroppo, pmid:24966676] synonym: "Trouble remembering words" RELATED layperson [] xref: MSH:D057180 xref: SNOMEDCT_US:230288001 xref: UMLS:C0338462 is_a: HP:0002145 ! Frontotemporal dementia [Term] id: HP:0030220 name: Socially inappropriate behavior def: "Behavior that is not in line with social norms." [ICM:PCaroppo] synonym: "Socially inappropriate behavior" EXACT layperson [] xref: UMLS:C2220010 is_a: HP:0000719 ! Inappropriate behavior [Term] id: HP:0030221 name: Sweet craving def: "Excessive desire to eat sweet foods." [ICM:PCaroppo] synonym: "Sweet craving" EXACT layperson [] xref: UMLS:C0241314 is_a: HP:0100738 ! Abnormal eating behavior [Term] id: HP:0030222 name: Visual agnosia def: "Difficulty in recognizing objects by visual input in absence of sensorial visual impairment." [ICM:PCaroppo] xref: MSH:D000377 xref: SNOMEDCT_US:25762009 xref: UMLS:C0234502 is_a: HP:0010524 ! Agnosia [Term] id: HP:0030223 name: Perseveration def: "Perseveration can be defined as the contextually inappropriate and unintentional repetition of a response or behavioral unit. In other words, the observed repetitiveness does not meet the demands of the situation, is not the product of deliberation, and may even unfold despite counterintention. Perseveration can therefore be differentiated from goal-directed and intentional forms of repetition, such as linguistic redundancies designed to enhance communicative or poetic impact." [HPO:probinson, pmid:9050113] synonym: "Perseverative behavior" EXACT [] synonym: "Perseverative behaviour" EXACT HP:0045076 [] xref: SNOMEDCT_US:44515000 xref: UMLS:C0233651 is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0030224 name: Abnormal muscle fiber desmin def: "A deviation from normal in the expression of desmin in muscle tissue. Desmin is an 53-KDa protein." [Neuromics:vstraub] xref: UMLS:C4022573 is_a: HP:0030089 ! Abnormal muscle fiber protein expression [Term] id: HP:0030225 name: Accumulation of muscle fiber desmin def: "Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy." [Neuromics:vstraub] synonym: "Muscle fiber desmin-reactive inclusion bodies" EXACT [] xref: UMLS:C4021043 is_a: HP:0030224 ! Abnormal muscle fiber desmin [Term] id: HP:0030226 name: Abnormal muscle fiber myotilin def: "A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kD cytoskeletal protein." [Neuromics:vstraub] xref: UMLS:C4022572 is_a: HP:0030089 ! Abnormal muscle fiber protein expression [Term] id: HP:0030227 name: Accumulation of muscle fiber myotilin def: "Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy." [Neuromics:vstraub] xref: UMLS:C4022571 is_a: HP:0030226 ! Abnormal muscle fiber myotilin [Term] id: HP:0030228 name: Abnormal muscle fiber valosin-containing protein def: "A deviation from normal in the expression of valosin-containing protein in muscle tissue. Valosin-containing protein an ubiquitously expressed multifunctional 100-kD protein that is a member of the AAA+ (ATPase associated with various activities) protein family." [Neuromics:vstraub] xref: UMLS:C4022570 is_a: HP:0030089 ! Abnormal muscle fiber protein expression [Term] id: HP:0030229 name: Accumulation of muscle fiber valosin-containing protein def: "Immunohistochemistry shows accumulation of valosin-containing protein in the muscle biopsy." [Neuromics:vstraub] xref: UMLS:C4022569 is_a: HP:0030228 ! Abnormal muscle fiber valosin-containing protein [Term] id: HP:0030230 name: Central core regions in muscle fibers def: "The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric." [Neuromics:vstraub, pmid:17504518] xref: UMLS:C4022568 is_a: HP:0004303 ! Abnormal muscle fiber morphology [Term] id: HP:0030231 name: Glycogen accumulation in muscle fiber lysosomes def: "An increased amount of glycogen in muscle tissue found specifically in lysosomes." [Neuromics:vstraub] xref: UMLS:C4022567 is_a: HP:0009051 ! Increased muscle glycogen content [Term] id: HP:0030232 name: Increased sarcoplasmic glycogen def: "Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers." [HPO:probinson] xref: UMLS:C4022566 is_a: HP:0009051 ! Increased muscle glycogen content [Term] id: HP:0030233 name: Bethlem sign def: "Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures." [Neuromics:vstraub] synonym: "Bethlem phenomenon" EXACT [] xref: UMLS:C4021042 is_a: HP:0009473 ! Joint contracture of the hand [Term] id: HP:0030234 name: Highly elevated creatine kinase def: "An increased CPK level between 4X and 50X above the upper normal level." [Neuromics:vstraub] synonym: "Highly elevated CPK" EXACT HP:0045077 [] synonym: "Highly elevated creatine phosphokinase" EXACT [https://orcid.org/0000-0001-7941-2961] synonym: "Highly elevated serum CK" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] synonym: "Highly elevated serum CPK" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] synonym: "Highly elevated serum phosph-CK" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] xref: UMLS:C4022565 is_a: HP:0003236 ! Elevated serum creatine kinase [Term] id: HP:0030235 name: Extremely elevated creatine kinase def: "An increased creatine kinase level more than 50X above the upper normal level." [https://orcid.org/0000-0001-7941-2961, Neuromics:vstraub] synonym: "Extremely elevated CPK" EXACT HP:0045077 [] synonym: "Extremely elevated creatine phosphokinase" EXACT [https://orcid.org/0000-0001-7941-2961] synonym: "Extremely elevated phospho-CK serum level" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] synonym: "Extremely elevated serum CK level" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] synonym: "Extremely high CPK level" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] xref: UMLS:C4022564 is_a: HP:0003236 ! Elevated serum creatine kinase [Term] id: HP:0030236 name: Abnormality of muscle size def: "Abnormalities of the overall muscle bulk based on clinical observation." [Neuromics:vstraub] synonym: "Abnormality of muscle size" EXACT layperson [] xref: UMLS:C4022563 is_a: HP:0011805 ! Abnormal muscle morphology [Term] id: HP:0030237 name: Hand muscle weakness def: "Reduced strength of the musculature of the hand." [HPO:probinson] synonym: "Hand muscle weakness" EXACT layperson [] xref: SNOMEDCT_US:298283006 xref: UMLS:C0239831 is_a: HP:0001421 ! Abnormality of the musculature of the hand [Term] id: HP:0030239 name: Hypoplasia of the upper arm musculature def: "Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis." [HPO:probinson] synonym: "Underdeveloped upper arm muscles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022562 is_a: HP:0009016 ! Upper limb muscle hypoplasia [Term] id: HP:0030241 name: Hypoplasia of deltoid muscle alt_id: HP:0009039 alt_id: HP:0009044 def: "Underdevelopment of the deltoid muscle." [Neuromics:vstraub] synonym: "Deltoid muscle hypoplasia" EXACT [] xref: UMLS:C1868170 is_a: HP:0008952 ! Shoulder muscle hypoplasia [Term] id: HP:0030242 name: Portal vein thrombosis def: "Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the sup-erior and inferior mesenteric veins." [HPO:probinson, pmid:21960890] comment: Portal vein thrombosis (PVT) can occur within the main portal vein, or it can occur in the branches of the portal vein within the liver itself. It can be an occluding thrombus or nonoccluding, with a clot present but continued blood flow through the vessel. The sequela of a long-standing PVT is cavernous formation of the portal vein, which represents bridging collaterals around the occlusion. synonym: "Blood clot in portal vein" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:17920008 xref: UMLS:C0155773 is_a: HP:0030247 ! Splanchnic vein thrombosis [Term] id: HP:0030243 name: Hepatic vein thrombosis def: "An obstruction in the veins of the liver caused by a blood clot (thrombosis)." [HPO:probinson] synonym: "Blood clot in liver vein" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hepatic venous thrombosis" EXACT [] xref: MSH:D006502 xref: SNOMEDCT_US:38739001 xref: UMLS:C0019154 is_a: HP:0030247 ! Splanchnic vein thrombosis [Term] id: HP:0030244 name: Maternal fever in pregnancy def: "The occurence of an elevated body temperature of the mother during pregnancy." [HPO:probinson, pmid:24567014] comment: There is evidence to suugest that maternal fever during pregnancy may negatively affect offspring healthneural tube defects, congenital heart defects, and oral clefts, in which meta-analyses suggested between a 1.5- and nearly 3-fold increased risk with fever exposure in the first trimester. synonym: "Maternal fever during pregnancy" EXACT [] xref: UMLS:C4021041 is_a: HP:0001945 ! Fever is_a: HP:0002686 ! Prenatal maternal abnormality [Term] id: HP:0030245 name: Intrapartum fever def: "The occurence of maternal fever during labor." [HPO:probinson, pmid:11430951, pmid:8135133] comment: Intrapartum fever may indicate chorioamnionitis. Intrapartum fever is an important predictor of neonatal morbidity and infection-related mortality. synonym: "Maternal fever during labor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3829514 is_a: HP:0030244 ! Maternal fever in pregnancy [Term] id: HP:0030246 name: Maternal first trimester fever def: "The occurence of fever in a mother during the first trimester of pregnancy." [HPO:probinson, pmid:24917213] xref: UMLS:C4022561 is_a: HP:0030244 ! Maternal fever in pregnancy [Term] id: HP:0030247 name: Splanchnic vein thrombosis def: "The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity)." [HPO:probinson, pmid:20532730] synonym: "Blood clot in splanchnic vein" EXACT [ORCID:0000-0001-6908-9849] xref: UMLS:C4022560 is_a: HP:0004936 ! Venous thrombosis [Term] id: HP:0030248 name: Mesenteric venous thrombosis def: "A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine)." [] comment: Mesenteric venous thrombosis may be associated with abdominal pain and bloating, diarrhea, fever, gastrointestinal bleeding, and vomiting. synonym: "Blood clot in mesentertic vein" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:D065666 xref: SNOMEDCT_US:95446005 xref: UMLS:C0267412 is_a: HP:0030247 ! Splanchnic vein thrombosis [Term] id: HP:0030249 name: Enanthema def: "A sudden eruption (rash) of the surface of a mucous membrane of the mouth or pharynx." [HPO:probinson] xref: SNOMEDCT_US:5862001 xref: UMLS:C0014034 is_a: HP:0011830 ! Abnormal oral mucosa morphology [Term] id: HP:0030250 name: Pulmonary granulomatosis def: "The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the lung." [] xref: UMLS:C0856628 is_a: HP:0002088 ! Abnormal lung morphology [Term] id: HP:0030251 name: Absence of memory B cells def: "Complete lack of memory B cells, that is, of mature B cell type that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin." [HPO:probinson] xref: UMLS:C4022559 is_a: HP:0030252 ! Absence of mature B cells [Term] id: HP:0030252 name: Absence of mature B cells def: "Complete lack of mature B cells, that is, of B cells that have left the bone marrow." [HPO:probinson] xref: UMLS:C4022558 is_a: HP:0010976 ! B lymphocytopenia [Term] id: HP:0030253 name: Defective T cell proliferation def: "A reduced ability of a T cell population to expand by cell division following T cell activation." [HPO:probinson] xref: UMLS:C4022557 is_a: HP:0005435 ! Impaired T cell function is_a: HP:0031379 ! Abnormal T cell proliferation [Term] id: HP:0030254 name: Nail bed hemorrhage def: "Small areas of bleeding (hemorrhage) under the fingernail or toenail." [HPO:probinson] xref: UMLS:C0877087 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0030255 name: Large intestinal polyposis def: "The presence of multiple polyps in the large intestine." [HPO:probinson] xref: UMLS:C4022556 is_a: HP:0200008 ! Intestinal polyposis [Term] id: HP:0030256 name: Small intestinal polyposis def: "The presence of multiple polyps in the small intestine." [HPO:probinson] xref: UMLS:C4022555 is_a: HP:0200008 ! Intestinal polyposis [Term] id: HP:0030257 name: Freckled genitalia def: "One or more brown punctate macules on the skin of the genitalia." [HPO:probinson, pmid:23650202] comment: This should be differentiated from Hyperpigmented genitalia in which an area larger than a freckle or the complete external genitalia are hyperpigmented. The description should be qualified by a description of the affected part(s). synonym: "Freckled genitalia" EXACT layperson [] synonym: "Genitalia, ephelides" EXACT [] xref: UMLS:C4021040 is_a: HP:0012293 ! Abnormal genital pigmentation [Term] id: HP:0030258 name: Hyperpigmented genitalia def: "Localized or generalized increased genital pigmentation." [] comment: This is an assessment of the relative pigmentation of the genitalia compared to the overall pigmentation of the individual. Hyperpigmentation can affect other parts of the body or be restricted to the genitalia. Genital hyperpigmentation can be generalized or localized. Localized areas of hyperpigmentation of the glans of the penis are especially common. This should be differentiated from Freckled genitalia in which one or more small, focal areas of hyperpigmentation are present. Localized hyperpigmentation can be objectively determined due to the difference from the immediate surrounding tissue color, while generalized hyperpigmentation may be more difficult to determine and is therefore a subjective manifestation. If the finding is localized, the description should be appended with a description of the affected part(s). synonym: "Increased genital pigmentation" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Penile melanosis" RELATED [] xref: UMLS:C4020713 xref: UMLS:C4022554 is_a: HP:0012293 ! Abnormal genital pigmentation [Term] id: HP:0030259 name: Hypopigmented genitalia def: "Localized or generalized decreased genital pigmentation." [HPO:probinson, pmid:23650202] comment: This is an assessment of the relative pigmentation of the genitalia compared to the overall pigmentation of the individual. Hypopigmentation can affect other parts of the body or be restricted to the genitalia. Genital hypopigmentation can be generalized or localized. Localized hypopigmentation can be objectively determined due to the difference from the immediate surrounding tissue color, while generalized hypopigmentation may be more difficult to determine and is therefore a subjective manifestation. synonym: "Decreased genital pigmentation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022553 is_a: HP:0012293 ! Abnormal genital pigmentation [Term] id: HP:0030260 name: Microphallus def: "Length of penis more than 2 SD below the mean for age accompanied by hypospadias." [HPO:probinson, pmid:23650202] comment: Traditionally a distinction is made between a Short penis, a short penis with otherwise normal anatomy, versus microphallus, a short penis with hypospadias. Penile length is the distance between the midline attachment of the gently stretched, flaccid penis above the pubic symphysis and tip of the glans. A short penis should be differentiated from an inconspicuous penis, for instance due to excessive suprapubic fat ("buried"). We also recognize that shortness of a penis is defined by some subspecialists as penile length more than 2.5 SD below the mean. xref: SNOMEDCT_US:276333003 xref: UMLS:C0240701 is_a: HP:0008736 ! Hypoplasia of penis [Term] id: HP:0030261 name: Absent penis alt_id: HP:0040316 def: "Lack of recognizable penile structures." [HPO:probinson, pmid:23650202] comment: Absence of the penis is always accompanied by abnormal position of the meatus (usually in the perineum, sometimes in the rectum), may be accompanied by Cryptorchidism, and is often associated with non-genital anomalies, which all should be coded separately. Absent penis should be differentiated from a penis concealed within pre-pubic fat tissue. synonym: "Absent penis" EXACT layperson [] synonym: "Aphallia" EXACT [] synonym: "Aplasia of the penis" EXACT [] synonym: "Penis aplasia" EXACT [] xref: SNOMEDCT_US:204908001 xref: SNOMEDCT_US:59981001 xref: UMLS:C0555231 is_a: HP:0000036 ! Abnormality of the penis [Term] id: HP:0030262 name: Narrow penis def: "Penile width more than 2 standard deviations (SD) below the mean for age. Alternatively circumference of the flaccid penis more than 2 SD below the mean for age. Alternatively, apparently decreased penile width for age." [HPO:probinson, pmid:23650202] comment: Penile width is the distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis. synonym: "Narrow penis" EXACT layperson [] xref: UMLS:C4022552 is_a: HP:0000036 ! Abnormality of the penis [Term] id: HP:0030263 name: Torsion of the penis def: "Rotated position of the glans, with or without the penile shaft, of 30 degrees or more." [HPO:probinson, pmid:23650202] comment: Penile torsion is defined traditionally as being between 30 and 180 degrees rotation. Penile torsion is usually counter clockwise and is often associated with Chordee and Hypospadias, which should be coded separately. xref: UMLS:C1407019 is_a: HP:0000036 ! Abnormality of the penis [Term] id: HP:0030264 name: Webbed penis def: "Ventral skinfold extending from penis to scrotum." [pmid:23650202] comment: The distal limit of the skinfold can be located on the penile shaft or the tip of the penis. synonym: "Webbed penis" EXACT layperson [] xref: SNOMEDCT_US:253852007 xref: UMLS:C0431670 is_a: HP:0000036 ! Abnormality of the penis [Term] id: HP:0030265 name: Wide penis def: "Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age." [pmid:23650202] synonym: "Wide penis" EXACT layperson [] xref: UMLS:C4022551 is_a: HP:0030264 ! Webbed penis [Term] id: HP:0030266 name: Abnormality of the sacroiliac notch xref: UMLS:C4022550 is_a: HP:0100781 ! Abnormality of the sacroiliac joint [Term] id: HP:0030267 name: Calcification of the interosseus membrane of the forearm def: "Deposition of calcium salts in the fibrous sheet that connects the radius and the ulna." [HPO:probinson] xref: UMLS:C4022549 is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0030268 name: Hyperplastic callus formation def: "Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing." [HPO:probinson, pmid:12913845, pmid:17451374] xref: UMLS:C4022548 is_a: HP:0011842 ! Abnormality of skeletal morphology [Term] id: HP:0030269 name: Increased serum insulin-like growth factor 1 def: "An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation." [HPO:probinson, pmid:18436706] comment: Growth hormone and IGF-I are important regulators of bone homeostasis throughout life. During the prepubertal period, GH and IGF-I are determinants of longitudinal bone growth, skeletal maturation, and acquisition of bone mass, whereas in adults they are important in the maintenance of bone mass. synonym: "Elevated serum IGF1" EXACT [] synonym: "Increased serum IGF1" EXACT [] synonym: "Increased serum insulin-like growth factor 1" EXACT [] xref: UMLS:C2676198 is_a: HP:0030352 ! Abnormal serum insulin-like growth factor 1 level [Term] id: HP:0030270 name: Elevated red cell adenosine deaminase activity def: "Increase in the activity of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine." [HPO:probinson, pmid:3348976] xref: UMLS:C4022547 is_a: HP:0030272 ! Abnormal erythrocyte enzyme activity [Term] id: HP:0030271 name: Reduced erythrocyte 2,3-diphosphoglycerate concentration def: "This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation." [HPO:probinson] xref: UMLS:C4022546 is_a: HP:0001877 ! Abnormal erythrocyte morphology [Term] id: HP:0030272 name: Abnormal erythrocyte enzyme activity def: "An altered ability of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered levels of an enzyme." [] xref: UMLS:C4022545 is_a: HP:0001877 ! Abnormal erythrocyte morphology is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity [Term] id: HP:0030273 name: Reduced red cell adenosine deaminase activity def: "Decrease in the activity of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine." [HPO:probinson] xref: UMLS:C4022544 is_a: HP:0030272 ! Abnormal erythrocyte enzyme activity [Term] id: HP:0030274 name: Accessory scrotum def: "Additional scrotum, or part of a scrotum in an abnormal location." [pmid:23650202] comment: An accessory scrotum is typically located on the perineum, frequently associated with perineal lipoma, and occasionally with Hypospadias or Bifid penis, which should be coded separately. synonym: "Extra scrotum" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022543 is_a: HP:0000045 ! Abnormality of the scrotum [Term] id: HP:0030275 name: Ectopic scrotum def: "Scrotum in a position other than the usual position inferior to the base of the penis." [pmid:23650202] comment: This term is distinguished from Accessory scrotum, as there is no significant scrotal tissue in the normal position in ectopic scrotum. This definition excludes the finding of Penoscrotal transposition or Overriding scrotum. Usually the scrotum is split and there is unilateral ectopia. The ectopic scrotum is typically located supra-inguinally, but may be located elsewhere such as on the upper thigh. A testis is commonly present in the ectopic scrotum. Ectopic scrotum can be accompanied by Chordee or Bifid penis, which should be coded separately, and by renal and non-urogenital malformations. synonym: "Abnormal scrotum position" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022542 is_a: HP:0000045 ! Abnormality of the scrotum [Term] id: HP:0030276 name: Small scrotum def: "Apparently small scrotum for age." [pmid:23650202] comment: A small scrotum is often accompanied by Cryptorchidism which should be coded separately. The size of the scrotum is dependent on the ambient temperature: a low temperature may cause the testes to retract, leading to the false impression of a small scrotum. synonym: "Small scrotum" EXACT layperson [] synonym: "Underdeveloped scrotum" EXACT layperson [] xref: SNOMEDCT_US:204912007 xref: UMLS:C0431659 is_a: HP:0000045 ! Abnormality of the scrotum [Term] id: HP:0030277 name: Abnormal vertebral pedicle morphology def: "Abnormal morphology of a vertebral pedical." [UToronto:bgallinger] comment: The pedicle is part of the lumbar vertebrae - each lumbar vertebra consists of a vertebral body and a vertebral arch. The vertebral arch, consisting of a pair of pedicles and a pair of laminae, encloses the vertebral foramen. xref: UMLS:C4022541 is_a: HP:0008438 ! Vertebral arch anomaly [Term] id: HP:0030278 name: Hypoplastic vertebral pedicle def: "Underdeveloped vertebral pedicle." [HPO:probinson] xref: UMLS:C4022540 is_a: HP:0030277 ! Abnormal vertebral pedicle morphology [Term] id: HP:0030279 name: Hypoplastic L5 vertebral pedicle def: "Underdeveloped pedicle of the fifth lumbar vertebra." [UToronto:bgallinger] xref: UMLS:C4022539 is_a: HP:0030278 ! Hypoplastic vertebral pedicle [Term] id: HP:0030280 name: Rib gap def: "Radiolucent focal defect of a rib shaft." [HPO:probinson] comment: A rib gap can be congenital or acquired. If congenital this feature is nearly pathgnomonic for Cerebrocostomandibular syndrome (MIM:117650). Acquired rib gaps can be seen after surgical procedures or with fractures or infections. synonym: "Rib gap" EXACT layperson [] xref: SNOMEDCT_US:249705009 xref: UMLS:C0426827 is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0030281 name: Cervical C3/C4 vertebral fusion def: "Fusion of cervical vertebrae at C3 and C4, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development." [] xref: UMLS:C4022538 is_a: HP:0002949 ! Fused cervical vertebrae [Term] id: HP:0030282 name: Posterior rib gap def: "Radiolucent focal defect of the posterior portion of a rib shaft. The 'gaps' may lead to flail chest." [UToronto:bgallinger] synonym: "Dorsal rib defect" EXACT [] xref: UMLS:C1842696 is_a: HP:0030280 ! Rib gap [Term] id: HP:0030283 name: Partial absence of the septum pellucidum def: "Only part of the septum pellucidum (a thin, triangular, vertical membrane separating the lateral ventricles of the brain) is present. This feature can be appreciated on magnetic resonance tomography or computed tomography of the brain." [UToronto:bgallinger] xref: SNOMEDCT_US:422474003 xref: UMLS:C1827299 is_a: HP:0007375 ! Abnormality of the septum pellucidum [Term] id: HP:0030284 name: Triangular tongue def: "A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle." [UToronto:bgallinger] synonym: "Triangle shaped tongue" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Triangular tongue" EXACT layperson [] xref: UMLS:C4022537 is_a: HP:0000158 ! Macroglossia [Term] id: HP:0030285 name: Splayed superior cerebellar peduncle def: "Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle." [HPO:probinson] xref: UMLS:C4022536 is_a: HP:0011932 ! Abnormality of the superior cerebellar peduncle [Term] id: HP:0030286 name: Atrophic superior cerebellar peduncle def: "Atrophy of the superior cerebellar peduncle." [HPO:probinson] xref: UMLS:C4022535 is_a: HP:0011932 ! Abnormality of the superior cerebellar peduncle [Term] id: HP:0030289 name: Flattened femoral epiphysis def: "An abnormal flattening of an epiphysis of femur." [HPO:probinson] synonym: "Flattended end part of thigh bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1850642 is_a: HP:0003071 ! Flattened epiphysis [Term] id: HP:0030290 name: Unossified sacrum def: "Lack of ossification of the sacrum." [HPO:probinson] synonym: "Absence of sacrum ossification" EXACT [] xref: UMLS:C2675562 is_a: HP:0025370 ! Abnormal ossification of the sacrum [Term] id: HP:0030291 name: Lower-limb metaphyseal irregularity def: "Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg." [HPO:probinson] xref: UMLS:C4022534 is_a: HP:0003025 ! Metaphyseal irregularity [Term] id: HP:0030292 name: Tibial metaphyseal irregularity def: "Irregularity of the normally smooth surface of a metaphysis of a tibia." [HPO:probinson] xref: UMLS:C4022533 is_a: HP:0030291 ! Lower-limb metaphyseal irregularity [Term] id: HP:0030293 name: Fibular metaphyseal irregularity def: "Irregularity of the normally smooth surface of a metaphysis of a fibula." [HPO:probinson] synonym: "Irregularity of wide portion of calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022532 is_a: HP:0030291 ! Lower-limb metaphyseal irregularity [Term] id: HP:0030294 name: Metaphyseal chondromatosis of tibia xref: UMLS:C4022531 is_a: HP:0005868 ! Metaphyseal enchondromatosis [Term] id: HP:0030295 name: Metaphyseal chondromatosis of femur xref: UMLS:C4022530 is_a: HP:0005868 ! Metaphyseal enchondromatosis [Term] id: HP:0030296 name: Metaphyseal chondromatosis of radius xref: UMLS:C4022529 is_a: HP:0005868 ! Metaphyseal enchondromatosis [Term] id: HP:0030297 name: Metaphyseal chondromatosis of ulna xref: UMLS:C4022528 is_a: HP:0005868 ! Metaphyseal enchondromatosis [Term] id: HP:0030298 name: Metaphyseal chondromatosis of humerus xref: UMLS:C4021860 is_a: HP:0005868 ! Metaphyseal enchondromatosis [Term] id: HP:0030299 name: Distal femoral metaphyseal abnormality def: "An anomaly of the metaphysis of the distal femur (close to the knee)." [HPO:probinson] synonym: "Abnormality of wide portion of outermost thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022527 is_a: HP:0006489 ! Abnormality of the femoral metaphysis [Term] id: HP:0030300 name: 10 pairs of ribs def: "Presence of only 10 (instead of the usual 12) pairs of ribs." [UToronto:bgallinger] synonym: "10 pairs of ribs" EXACT layperson [] xref: UMLS:C4022526 is_a: HP:0000921 ! Missing ribs [Term] id: HP:0030301 name: Abnormality of the anterior commissure def: "An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts." [UToronto:bgallinger] comment: The human brain commissures comprise the corpus callosum, the anterior commissure, the fornix, and the posterior commissure. xref: UMLS:C4022525 is_a: HP:0002500 ! Abnormality of the cerebral white matter [Term] id: HP:0030302 name: Agenesis of the anterior commissure def: "Absence of the anterior commissure." [UToronto:bgallinger] xref: UMLS:C1851087 is_a: HP:0030301 ! Abnormality of the anterior commissure [Term] id: HP:0030303 name: Hypoplastic anterior commissure def: "Underdevelopment of the anterior commissure." [UToronto:bgallinger] xref: UMLS:C4022524 is_a: HP:0030301 ! Abnormality of the anterior commissure [Term] id: HP:0030304 name: Abnormal number of vertebrae def: "A deviation from the normal number of vertebrae in the spinal column." [HPO:probinson] xref: UMLS:C4022523 is_a: HP:0003468 ! Abnormal vertebral morphology [Term] id: HP:0030305 name: Decreased number of vertebrae xref: UMLS:C4022522 is_a: HP:0030304 ! Abnormal number of vertebrae [Term] id: HP:0030306 name: 11 thoracic vertebrae def: "The presence of 11 instead of the normal 12 thoracic vertebrae." [UToronto:bgallinger] xref: UMLS:C4022521 is_a: HP:0030305 ! Decreased number of vertebrae [Term] id: HP:0030307 name: Flared lower limb metaphysis def: "The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg." [HPO:probinson] synonym: "Flared metaphysis of lower limb bone" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4022520 is_a: HP:0003015 ! Flared metaphysis [Term] id: HP:0030308 name: Flared distal tibial metaphysis def: "The presence of a splayed (i.e.,flared) metaphyseal segment of the distal tibia." [HPO:probinson] synonym: "Flared outermost metaphysis of shankbone" EXACT [ORCID:0000-0001-5208-3432] synonym: "Flared outermost metaphysis of shinbone" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4022519 is_a: HP:0030307 ! Flared lower limb metaphysis [Term] id: HP:0030309 name: Flared distal fibular metaphysis def: "The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula." [HPO:probinson] synonym: "Flared outermost wide portion of of calf bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022518 is_a: HP:0030307 ! Flared lower limb metaphysis [Term] id: HP:0030310 name: Upper extremity joint dislocation def: "Displacement or malalignment of one or more joints in the upper extremity (arm)." [HPO:probinson] synonym: "Dislocated arm joints" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022517 is_a: HP:0001373 ! Joint dislocation [Term] id: HP:0030311 name: Lower extremity joint dislocation def: "Displacement or malalignment of one or more joints in the lower extremity (leg)." [HPO:probinson] synonym: "Dislocated leg joints" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022516 is_a: HP:0001373 ! Joint dislocation [Term] id: HP:0030312 name: Obliteration of the calvarial diploe def: "Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe)." [HPO:probinson] synonym: "Obliteration of cranial cancellous bone" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C1860855 is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0030313 name: Abnormal periosteum morphology def: "An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones." [HPO:probinson] xref: UMLS:C4022515 is_a: HP:0003330 ! Abnormal bone structure is_a: HP:0040166 ! Abnormality of the periosteum [Term] id: HP:0030314 name: Periostosis def: "Abnormal deposition of periosteal bone." [] xref: UMLS:C1409412 is_a: HP:0030313 ! Abnormal periosteum morphology [Term] id: HP:0030318 name: Angular cheilitis def: "A type of inflammation of the lips involving one or both of the corners of the mouth." [HPO:probinson] synonym: "Angular cheilosis" EXACT [] synonym: "Angular stomatitis" EXACT [] synonym: "Commissural cheilitis" EXACT [] synonym: "Inflammation of corners of the mouth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Inflammation of oral commisures" EXACT [ORCID:0000-0001-5889-4463] synonym: "Red and sore corners of the mouth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:266429005 xref: UMLS:C0221237 is_a: HP:0100825 ! Cheilitis [Term] id: HP:0030319 name: Weakness of facial musculature def: "Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve)." [HPO:probinson] synonym: "Decreased facial muscle strength" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Decreased strength of facial muscles" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Face weakness" EXACT layperson [] synonym: "Facial muscle weakness" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Facial weakness" EXACT layperson [https://orcid.org/0000-0001-5208-3432] synonym: "Myasthenia of facial muscles" EXACT [ORCID:0000-0001-5889-4463] synonym: "Reduced facial muscle strength" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Weakness of face" EXACT layperson [] synonym: "Weakness of facial musculature" EXACT layperson [] xref: UMLS:C4022514 is_a: HP:0000301 ! Abnormality of facial musculature [Term] id: HP:0030320 name: Increased intervertebral space def: "An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space." [HPO:probinson] xref: UMLS:C4022513 is_a: HP:0005108 ! Abnormality of the intervertebral disk [Term] id: HP:0030321 name: Abnormal vertebral artery morphology def: "An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system." [HPO:probinson] synonym: "Abnormality of the vertebral artery" EXACT [] xref: UMLS:C4022512 is_a: HP:0011004 ! Abnormal systemic arterial morphology [Term] id: HP:0030322 name: Vertebral artery hypoplasia def: "Underdevelopment of the vertebral artery." [] xref: UMLS:C1868737 is_a: HP:0030321 ! Abnormal vertebral artery morphology [Term] id: HP:0030323 name: Unilateral vertebral artery hypoplasia def: "Underdevelopment of the vertebral artery on one side." [HPO:probinson] xref: UMLS:C3279090 is_a: HP:0030322 ! Vertebral artery hypoplasia [Term] id: HP:0030324 name: Bilateral vertebral artery hypoplasia def: "Underdevelopment of the vertebral artery on both sides." [HPO:probinson, pmid:23816871] xref: UMLS:C4022511 is_a: HP:0030322 ! Vertebral artery hypoplasia [Term] id: HP:0030325 name: Cervicomedullary schisis def: "Fissure within the spinal cord of the neck." [HPO:probinson] xref: UMLS:C4022510 is_a: HP:0002143 ! Abnormality of the spinal cord [Term] id: HP:0030326 name: Abnormal macrophage count def: "An anomaly in the number of macrophages." [HPO:probinson] xref: UMLS:C4022509 is_a: HP:0004311 ! Abnormal macrophage morphology [Term] id: HP:0030327 name: Abnormal osteoclast count def: "An anomaly in the number of osteoclasts, bone-resorbing cells that develop from macrophages." [] xref: UMLS:C4022508 is_a: HP:0030326 ! Abnormal macrophage count [Term] id: HP:0030328 name: Decreased osteoclast count def: "Decreased number of osteoclasts." [HPO:probinson] xref: UMLS:C4022507 is_a: HP:0030327 ! Abnormal osteoclast count [Term] id: HP:0030329 name: Retinal thinning def: "Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT)." [HPO:probinson] synonym: "Retinal thinning" EXACT layperson [] xref: UMLS:C3549703 is_a: HP:0000479 ! Abnormal retinal morphology [Term] id: HP:0030330 name: Multinucleated giant chondrocytes in epiphyseal cartilage def: "The presence of cartilage cells (chondrocytes) that are substantially increased in size and contain more than one nucleus and are located within the resting zone of the epiphyseal cartilage." [HPO:probinson] xref: UMLS:C4022506 is_a: HP:0005930 ! Abnormality of epiphysis morphology [Term] id: HP:0030331 name: Impaired stimulus-induced skin wrinkling def: "A reduced ability of the skin of the fingertips to wrinkle when exposed to stimuli such as soaking in water or application of EMLA cream (the fingertip remains smooth)." [pmid:19375384, UToronto:bgallinger] xref: UMLS:C4022505 is_a: HP:0011122 ! Abnormality of skin physiology [Term] id: HP:0030332 name: obsolete Abnormal T cell morphology is_obsolete: true replaced_by: HP:0002843 [Term] id: HP:0030333 name: Abnormal alpha-beta T cell morphology def: "A structuraly anomaly of T cells that express an alpha-beta T cell receptor." [] comment: Normally, most T cells express a T cell receptor (TCR) that consists of an alpha and a beta chain. A smaller subset of T cells express a TCR consisting of gamma and delta chains, xref: UMLS:C4022503 is_a: HP:0002843 ! Abnormal T cell morphology [Term] id: HP:0030334 name: Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology def: "A structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell. These cells are regulatory T cells." [HPO:probinson] xref: UMLS:C4022502 is_a: HP:0030333 ! Abnormal alpha-beta T cell morphology [Term] id: HP:0030335 name: Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count def: "A deviation from the normal count of CD4-positive, CD25-positive, alpha-beta regulatory T cells." [HPO:probinson] xref: UMLS:C4021859 is_a: HP:0030334 ! Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology [Term] id: HP:0030336 name: Absence of CD4-positive, CD25-positive regulatory T cells def: "Lack of CD4+CD25+ T regulatory cells." [HPO:probinson] synonym: "Absence of CD4+CD25+ T regulatory cells" EXACT [] synonym: "Absence of CD4+CD25+ Tregs" EXACT [] xref: UMLS:C4021039 is_a: HP:0030335 ! Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count [Term] id: HP:0030337 name: Elevated CD4-positive, CD25-positive regulatory T cell count def: "An increased number of CD4-positive, CD25-positive regulatory T cells." [HPO:probinson] xref: UMLS:C4022501 is_a: HP:0030335 ! Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count [Term] id: HP:0030338 name: Abnormal circulating gonadotropin level def: "An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH)." [HPO:probinson] xref: UMLS:C4072886 is_a: HP:0003117 ! Abnormal circulating hormone level [Term] id: HP:0030339 name: Decreased circulating gonadotropin level def: "A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH)." [HPO:probinson] xref: UMLS:C4072887 is_a: HP:0030338 ! Abnormal circulating gonadotropin level [Term] id: HP:0030340 name: obsolete Increased circulating gonadotropin level is_obsolete: true replaced_by: HP:0000837 [Term] id: HP:0030341 name: Decreased circulating follicle stimulating hormone level def: "A reduction of the circulating level of follicle-stimulating hormone (FSH)." [HPO:probinson] xref: UMLS:C4072889 is_a: HP:0030339 ! Decreased circulating gonadotropin level is_a: HP:0030346 ! Abnormal circulating follicle-stimulating hormone level [Term] id: HP:0030344 name: Decreased circulating luteinizing hormone level def: "A reduction in the circulating level of luteinizing hormone (LH)." [HPO:probinson] synonym: "Decreased circulating luteinising hormone level" EXACT [] xref: UMLS:C4072890 is_a: HP:0030339 ! Decreased circulating gonadotropin level is_a: HP:0030345 ! Abnormal circulating luteinizing hormone level [Term] id: HP:0030345 name: Abnormal circulating luteinizing hormone level def: "An anomaly of the circulating level of luteinizing hormone (LH)." [] synonym: "Abnormal luteinizing hormone level" EXACT [HPO:skoehler] synonym: "Increased circulating lutropin" EXACT [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:166374003 xref: UMLS:C0580438 is_a: HP:0030338 ! Abnormal circulating gonadotropin level [Term] id: HP:0030346 name: Abnormal circulating follicle-stimulating hormone level def: "An anomaly of the circulating level of follicle-stimulating hormone (FSH)." [HPO:probinson] xref: UMLS:C4072891 is_a: HP:0030338 ! Abnormal circulating gonadotropin level [Term] id: HP:0030347 name: Abnormal circulating androgen level def: "An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone." [HPO:probinson] xref: UMLS:C4072892 is_a: HP:0003117 ! Abnormal circulating hormone level [Term] id: HP:0030348 name: Increased circulating androgen level def: "An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone." [HPO:probinson] xref: UMLS:C4072893 is_a: HP:0030347 ! Abnormal circulating androgen level [Term] id: HP:0030349 name: Decreased circulating androgen level def: "A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone." [HPO:probinson] xref: UMLS:C4072894 is_a: HP:0030347 ! Abnormal circulating androgen level [Term] id: HP:0030350 name: Erythematous papule def: "A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color." [HPO:probinson] synonym: "Red-blue papule" RELATED [] xref: UMLS:C0747241 is_a: HP:0200034 ! Papule [Term] id: HP:0030351 name: Urticarial plaque def: "A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter." [] xref: UMLS:C4072895 is_a: HP:0200035 ! Skin plaque [Term] id: HP:0030352 name: Abnormal serum insulin-like growth factor 1 level def: "An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation." [HPO:probinson] xref: UMLS:C4072896 is_a: HP:0003117 ! Abnormal circulating hormone level [Term] id: HP:0030353 name: Decreased serum insulin-like growth factor 1 def: "A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation." [HPO:probinson] xref: UMLS:C4072897 is_a: HP:0030352 ! Abnormal serum insulin-like growth factor 1 level [Term] id: HP:0030354 name: Abnormal serum interferon level def: "Abnormal levels of interferon in the blood." [PMID:28487810] xref: UMLS:C4072898 is_a: HP:0011112 ! Abnormality of serum cytokine level [Term] id: HP:0030355 name: Abnormal serum interferon-gamma level def: "Abnormal levels of interferon gamma measured in the blood circulation." [PMID:11335769] xref: UMLS:C4072899 is_a: HP:0030354 ! Abnormal serum interferon level [Term] id: HP:0030356 name: Increased serum interferon-gamma level def: "An elevation in the concentration of interferon gamma measured in the blood circulation." [HPO:probinson, pmid:11335769] xref: UMLS:C4072900 is_a: HP:0030355 ! Abnormal serum interferon-gamma level [Term] id: HP:0030357 name: Small cell lung carcinoma def: "Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly." [HPO:probinson] synonym: "Oat cell carcinoma of lung" EXACT [] synonym: "Oat cell lung cancer" EXACT [] synonym: "Small cell lung cancer" EXACT [] xref: MSH:D055752 xref: SNOMEDCT_US:254632001 xref: SNOMEDCT_US:254633006 xref: UMLS:C0149925 is_a: HP:0100526 ! Neoplasm of the lung [Term] id: HP:0030358 name: Non-small cell lung carcinoma synonym: "Non-small cell lung cancer" EXACT [] xref: MSH:D002289 xref: SNOMEDCT_US:254637007 xref: UMLS:C0007131 is_a: HP:0100526 ! Neoplasm of the lung [Term] id: HP:0030359 name: Squamous cell lung carcinoma def: "A type of non-small cell lung carcinoma that is derived from stratified squamous epithelial cells." [HPO:probinson] comment: Four subtypes of squamous cell lung carcinoma exist: (i) papillary; (ii) clear cell; (iii) small cell (distinct from small cell lung cancer); and (iv) basaloid. xref: SNOMEDCT_US:254634000 xref: UMLS:C0149782 is_a: HP:0030358 ! Non-small cell lung carcinoma [Term] id: HP:0030360 name: Large cell lung carcinoma def: "A type of non-small cell lung carcinoma that is derived from undifferentiated malignant neoplasms originating from transformed epithelial cells in the lung, and which is differentiate from small-cell lung carcinoma by the larger size of the anaplastic cells, a higher cytoplasmic-to-nuclear size ratio, and a lack of salt-and-pepper appearance of the chromatin." [HPO:probinson] xref: SNOMEDCT_US:254629004 xref: UMLS:C0345958 is_a: HP:0030358 ! Non-small cell lung carcinoma [Term] id: HP:0030361 name: Abnormal circulating eicosanoid concentration def: "Any deviation from the normal concentration in the blood circulation of an icosanoid (also known as eicosanoids). These are signaling molecules derived from oxidation of 20-carbon fatty acids. Most are produced from arachidonic acid, a 20-carbon polyunsaturated fatty acid (5,8,11,14-eicosatetraenoic acid)." [HPO:probinson] comment: The icosanoids include the prostaglandins, prostacyclins, thromboxanes, leukotrienes, and epoxyeicosatrienoic acids. Icosanoids have various roles in processes that regulate inflammation, fever, blood pressure, blood clotting, immune system function, reproductive processes and tissue growth, and the sleep/wake cycle. synonym: "Abnormality of icosanoid metabolism" EXACT [] xref: UMLS:C4072901 is_a: HP:0011022 ! Abnormal circulating unsaturated fatty acid concentration [Term] id: HP:0030362 name: Reduced muscle carnitine level def: "A reduction in the level of carnitine in muscle tissue." [HPO:probinson, pmid:8174281, pmid:8472351] comment: Carnitine deficiency may be observed in a systemic form or be limited to skeletal muscle tissue. Carnitine levels can be measured by assays of muscle tissue (biopsy). Alternatively, 1H-NMR spectroscopy can be used for qualitative measurement of muscle carnitine levels. xref: UMLS:C4072902 is_a: HP:0004303 ! Abnormal muscle fiber morphology is_a: HP:0032243 ! Abnormal tissue metabolite concentration [Term] id: HP:0030363 name: Primary Caesarian section def: "Delivery by Caesarian section representing the first time the mother has delivered by Caesarian section." [HPO:probinson] xref: UMLS:C4072903 is_a: HP:0011410 ! Caesarian section [Term] id: HP:0030364 name: Secondary Caesarian section def: "Delivery by Caesarian section representing where the mother has already had a previous Cesarean delivery, and this is a repeat Cesarean birth." [HPO:probinson] xref: UMLS:C4072904 is_a: HP:0011410 ! Caesarian section [Term] id: HP:0030365 name: Vaginal birth after Caesarian def: "Vaginal birth after Caesarian (VBAC) refers to the situation where the mother has had a previous Cesarean delivery but has now delivered vaginally." [HPO:probinson, pmid:24104780] xref: MSH:D016064 xref: UMLS:C0080301 is_a: HP:0001787 ! Abnormal delivery [Term] id: HP:0030366 name: Delivery by Odon device def: "The Odon device is an instrument for assisted vaginal deliveries that is applied on the head of the baby and used to apply traction to assist the birth process." [HPO:probinson, pmid:23962177] xref: UMLS:C4072905 is_a: HP:0001787 ! Abnormal delivery [Term] id: HP:0030367 name: Finger hyperphalangy def: "Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a digit. That is, there is an accessory phalanx that is arranged linearly with the other phalanges." [] xref: UMLS:C4072906 is_a: HP:0005918 ! Abnormal finger phalanx morphology [Term] id: HP:0030368 name: Hyperphalangy of the 2nd finger def: "An accessory phalanx of the index (second) finger that is arranged linearly with the other phalanges. Hyperphalangy of the index finger results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. Note that this term refers only to this type of hyperphalangy." [HPO:probinson, pmid:25480037, pmid:6540680] synonym: "Hyperphalangy of index finger" EXACT [] xref: UMLS:C4072907 is_a: HP:0030367 ! Finger hyperphalangy [Term] id: HP:0030369 name: Induced vaginal delivery def: "Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own." [HPO:probinson] xref: UMLS:C4072908 is_a: HP:0001787 ! Abnormal delivery [Term] id: HP:0030370 name: Abnormal proportion of naive B cells def: "A deviation in the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to the total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen." [HPO:probinson] xref: UMLS:C4072909 is_a: HP:0025539 ! Abnormal B cell subset distribution [Term] id: HP:0030371 name: Increased proportion of naive B cells def: "An elevation above the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen." [HPO:probinson] xref: UMLS:C4072910 is_a: HP:0030370 ! Abnormal proportion of naive B cells [Term] id: HP:0030372 name: Decreased proportion of naive B cells def: "A reduction below normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen." [HPO:probinson] xref: UMLS:C4072911 is_a: HP:0030370 ! Abnormal proportion of naive B cells [Term] id: HP:0030373 name: Abnormal proportion of memory B cells def: "A deviation of the normal proportion of memory B cells in circulation relative to total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV)." [HPO:probinson, pmid:15771579] comment: Memory B cells can be defined as CD19+/CD27+ or CD20+/CD27+ cells in flow cytometry. xref: UMLS:C4072912 is_a: HP:0025539 ! Abnormal B cell subset distribution [Term] id: HP:0030374 name: Decreased proportion of memory B cells def: "A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV)." [HPO:probinson] xref: UMLS:C4072913 is_a: HP:0030373 ! Abnormal proportion of memory B cells [Term] id: HP:0030375 name: Increased proportion of memory B cells def: "An elevation in the proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV)." [HPO:probinson] xref: UMLS:C4072914 is_a: HP:0030373 ! Abnormal proportion of memory B cells [Term] id: HP:0030376 name: Abnormal proportion of immature B cells def: "A deviation from normal proportion immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+)." [HPO:probinson] synonym: "Abnormal proportion of CD19+/CD21low B cells" EXACT [] xref: UMLS:C4072915 is_a: HP:0025539 ! Abnormal B cell subset distribution [Term] id: HP:0030377 name: Increased proportion of immature B cells def: "An elevation in the proportion above normal of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+)." [HPO:probinson] synonym: "Increased proportion of CD19+/CD21low B cells" EXACT [] xref: UMLS:C4072916 is_a: HP:0030376 ! Abnormal proportion of immature B cells [Term] id: HP:0030378 name: Decreased proportion of immature B cells def: "A reduction in normal proportion of immature B cells (CD19+/ CD21low)in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+)." [HPO:probinson] synonym: "Decreased proportion of CD19+/CD21low B cells" EXACT [] xref: UMLS:C4072917 is_a: HP:0030376 ! Abnormal proportion of immature B cells [Term] id: HP:0030379 name: Abnormal proportion of transitional B cells def: "A deviation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells." [HPO:probinson, PMID:23731328] synonym: "Abnormal proportion of CD19+CD38+IgM+ cells" EXACT [] xref: UMLS:C4072918 is_a: HP:0025539 ! Abnormal B cell subset distribution [Term] id: HP:0030380 name: Decreased proportion of transitional B cells def: "A reduction in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells." [HPO:probinson] synonym: "Decreased proportion of CD19+CD38+IgM+ cells" EXACT [] xref: UMLS:C4072919 is_a: HP:0030379 ! Abnormal proportion of transitional B cells [Term] id: HP:0030381 name: Increased proportion of transitional B cells def: "An elevation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells." [HPO:probinson] synonym: "Increased proportion of CD19+CD38+IgM+ cells" EXACT [] xref: UMLS:C4072920 is_a: HP:0030379 ! Abnormal proportion of transitional B cells [Term] id: HP:0030383 name: Abnormal proportion of marginal zone B cells def: "A deviation of the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells." [HPO:probinson, PMID:9802980] xref: UMLS:C4072921 is_a: HP:0030373 ! Abnormal proportion of memory B cells [Term] id: HP:0030384 name: Decreased proportion of marginal zone B cells def: "A reduction in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells." [PMID:9802980] xref: UMLS:C4072922 is_a: HP:0030383 ! Abnormal proportion of marginal zone B cells [Term] id: HP:0030385 name: Increased proportion of marginal zone B cells def: "An elevation in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells." [HPO:probinson, PMID:9802980] xref: UMLS:C4072923 is_a: HP:0030383 ! Abnormal proportion of marginal zone B cells [Term] id: HP:0030386 name: Abnormal proportion of class-switched memory B cells def: "A deviation of the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM-/IgD-) in circulation relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA." [HPO:probinson, pmid:19342988] synonym: "Abnormal proportion of CD19+CD27+IgD- cells" EXACT [] xref: UMLS:C4072924 is_a: HP:0030373 ! Abnormal proportion of memory B cells [Term] id: HP:0030387 name: Increased proportion of class-switched memory B cells def: "An increase in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA." [HPO:probinson] synonym: "Increased proportion of CD19+CD27+IgD- cells" EXACT [] xref: UMLS:C4073288 is_a: HP:0030386 ! Abnormal proportion of class-switched memory B cells [Term] id: HP:0030388 name: Decreased proportion of class-switched memory B cells def: "A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA." [HPO:probinson] synonym: "Decreased proportion of CD19+CD27+IgD- cells" EXACT [] xref: UMLS:C4072925 is_a: HP:0030386 ! Abnormal proportion of class-switched memory B cells [Term] id: HP:0030389 name: Abnormal circulating thromboxane concentration def: "Any deivation from the normal concentration in the blood circulation of a thromboxane. Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels." [HPO:probinson] xref: UMLS:C4072926 is_a: HP:0030361 ! Abnormal circulating eicosanoid concentration [Term] id: HP:0030390 name: Reduced circulating leukotriene C4 concentration def: "An abnormally decreased concentration of leukotriene C4 in the blood circulation." [PMID:9820300] comment: Cysteinyl leukotrienes including LTC4 are potent lipid mediators derived from arachidonic acid in the 5 lipoxygenase pathway. xref: UMLS:C4072927 is_a: HP:0030361 ! Abnormal circulating eicosanoid concentration [Term] id: HP:0030391 name: Spoken Word Recognition Deficit def: "Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus." [HPO:probinson] xref: UMLS:C4072928 is_a: HP:0002463 ! Language impairment [Term] id: HP:0030392 name: Choroid plexus carcinoma def: "Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III." [HPO:probinson, pmid:11135453] xref: MSH:C562943 xref: SNOMEDCT_US:88252006 xref: UMLS:C0431109 is_a: HP:0007376 ! Abnormality of the choroid plexus is_a: HP:0100836 ! Malignant neoplasm of the central nervous system [Term] id: HP:0030393 name: Endolymphatic sac tumor def: "A low-grade papillary epithelial neoplasm (adenocarcinoma) with a slow growth pattern. The endolymphatic duct emerges from the posterior wall of the saccule (of the inner ear) and ends in a blind pouch, the endolymphatic sac. Endolymphatic sac tumors (ELSTs) are known under different names in the literature (Heffner tumor, aggressive papillary middle ear tumor, and low-grade adenocarcinoma of endolymphatic sac origin)." [pmid:24966979] comment: Endolymphatic sac tumors (ELSTs) may arise sporadically or in von Hippel-Lindau (VHL) disease. The symptoms (hearing loss with or without tinnitus, vertigo, impairment of cranial nerve function) and the physical and neuro-otologic examination and imaging findings (computed tomography, magnetic resonance imaging) are not specific for tumors of the cerebellopontine angle (CPA). The final diagnosis can often only be reached through histopathological and immunohistochemical evaluation of the tumor specimen. The differential diagnosis in tumors of the CPA includes paraganglioma, chondroid tumor, atypical schwannoma, meningioma, and also rare entities such as aneurysm, hemangioblastoma, craniopharyngioma, and choroid plexus papilloma. synonym: "Aggressive papillary middle ear tumor" EXACT [] synonym: "Heffner tumor" EXACT [] synonym: "Low-grade adenocarcinoma of endolymphatic sac origin" EXACT [] xref: SNOMEDCT_US:699817008 xref: UMLS:C2348239 is_a: HP:0040096 ! Neoplasm of the inner ear [Term] id: HP:0030394 name: Fallopian tube carcinoma def: "Carcinoma that originates in the Fallopian tube. It may be located in the wall or within the lumen as a growth attached to the wall by a stalk." [HPO:probinson, NCIT:C3867] xref: MSH:D005185 xref: SNOMEDCT_US:276870001 xref: UMLS:C0238122 is_a: HP:0010787 ! Genital neoplasm [Term] id: HP:0030396 name: Abnormal platelet granule secretion def: "Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion." [HPO:probinson, pmid:19450911] xref: UMLS:C4072929 is_a: HP:0011869 ! Abnormal platelet function [Term] id: HP:0030397 name: Abnormal platelet dense granule secretion def: "Abnormal release of dense granules from platelets." [HPO:probinson] comment: Dense granules contain adenosine diphosphate, adenosine triphosphate, ionized calcium, histamine and serotonin. xref: UMLS:C4072930 is_a: HP:0030396 ! Abnormal platelet granule secretion [Term] id: HP:0030398 name: Abnormal platelet ATP dense granule secretion def: "Abnormal secretion of the platelet dense-granule content adenosine triphosphate (ATP)." [] xref: UMLS:C4072931 is_a: HP:0030397 ! Abnormal platelet dense granule secretion [Term] id: HP:0030399 name: Abnormal platelet alpha granule secretion def: "Abnormal release of alpha granule contents from platelets." [HPO:probinson] xref: UMLS:C4072932 is_a: HP:0030396 ! Abnormal platelet granule secretion [Term] id: HP:0030400 name: Abnormal platelet lysosome secretion def: "Abnormal release of lysosome contents from platelets." [HPO:probinson] xref: UMLS:C4072933 is_a: HP:0030396 ! Abnormal platelet granule secretion [Term] id: HP:0030401 name: Abnormal platelet dense granule ATP/ADP ratio def: "Deviation from normal of the ratio of adenosine triphosphate (ATP) to adenosine diphosphate (ADP) within platelets." [HPO:probinson] xref: UMLS:C4072934 is_a: HP:0012484 ! Abnormal dense granules [Term] id: HP:0030402 name: Abnormal platelet aggregation def: "An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent." [HPO:probinson] xref: UMLS:C0541767 is_a: HP:0011869 ! Abnormal platelet function [Term] id: HP:0030403 name: Spontaneous platelet aggregation def: "Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation." [HPO:probinson] xref: MSH:C566800 xref: UMLS:C1868263 is_a: HP:0030402 ! Abnormal platelet aggregation [Term] id: HP:0030404 name: Glucagonoma def: "An endocrine tumor of the pancreas that secretes excessive amounts of glucagon." [HPO:probinson] comment: The excessive glucagon secreted by a glucagonoma may lead to dermatitis (migratory necrolytic erythema), glucose intolerance, weight loss, anemia, diarrhea, and thromboembolism. xref: MSH:D005935 xref: SNOMEDCT_US:128855009 xref: SNOMEDCT_US:16424000 xref: SNOMEDCT_US:302823005 xref: UMLS:C0017689 is_a: HP:0030405 ! Pancreatic endocrine tumor [Term] id: HP:0030405 name: Pancreatic endocrine tumor def: "A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas." [HPO:probinson] xref: MSH:D007516 xref: SNOMEDCT_US:126864006 xref: SNOMEDCT_US:128878003 xref: SNOMEDCT_US:237596009 xref: SNOMEDCT_US:399528006 xref: SNOMEDCT_US:76345009 xref: UMLS:C0242363 is_a: HP:0100634 ! Neuroendocrine neoplasm [Term] id: HP:0030406 name: Primary peritoneal carcinoma def: "A type of cancer that originates in the peritoneam. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum." [HPO:probinson] xref: UMLS:C1514428 is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract [Term] id: HP:0030407 name: Pineocytoma def: "A type of pineal parenchymal cell neoplasm that is a mature well-differentiated tumour (WHO grade I)." [] xref: MSH:D010871 xref: NCIT:C6966 xref: SNOMEDCT_US:255045009 xref: SNOMEDCT_US:89096009 xref: UMLS:C0917890 is_a: HP:0030694 ! Pineal parenchymal cell neoplasm [Term] id: HP:0030408 name: Pineoblastoma alt_id: HP:0040193 def: "Pineoblastoma is a rare primitive neuroectodermal tumour (PNET) arising in the pineal gland. Pineoblastomas are classified as a WHO grade IV tumour and comprise one-fourth to one-half of pineal parenchymal tumours. Pineoblastoma is a highly cellular tumor originating in the pineal gland and containing small, poorly differentiated cells." [HPO:probinson, PMID:21717450] comment: Pineoblastomas are rare, malignant, pineal region lesions that account for <0.1% of all intracranial tumors. Pineoblastomas harbor a poor prognosis and can metastasize along the neuroaxis. Although they typically appear radiographically as a focal enhancing mass, pineoblastomas can be locally invasive and spread outside the pineal region through the subarachnoid space. Pineoblastomas are more common in children than in adults, and adults account for <10% of patients. synonym: "Pinealoblastoma" EXACT [] xref: MSH:D010871 xref: SNOMEDCT_US:31671006 xref: UMLS:C0205898 is_a: HP:0030694 ! Pineal parenchymal cell neoplasm [Term] id: HP:0030409 name: Renal transitional cell carcinoma def: "A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice." [HPO:probinson] synonym: "renal TCC" EXACT [] synonym: "Renal urothelial carcinoma" EXACT [HPO:skoehler] synonym: "Transitional renal cell carcinoma" EXACT [HPO:skoehler] xref: http://emedicine.medscape.com/article/281484-overview xref: SNOMEDCT_US:408642003 xref: UMLS:C1319314 is_a: HP:0009726 ! Renal neoplasm [Term] id: HP:0030410 name: Sebaceous gland carcinoma def: "A carcinoma that arises in a sebaseous gland (an exocrine gland of the skin that secretes sebum, a waxy substance." [HPO:probinson] synonym: "Sebaceous carcinoma" EXACT [] xref: MSH:D018266 xref: SNOMEDCT_US:307599002 xref: SNOMEDCT_US:54734006 xref: UMLS:C0206684 is_a: HP:0012842 ! Skin appendage neoplasm [Term] id: HP:0030411 name: Jejunal adenocarcinoma def: "A malignant epithelial tumor with a glandular organization that originates in the jejunum." [HPO:probinson] xref: NCIT:C2852 xref: UMLS:C4072935 is_a: HP:0040274 ! Adenocarcinoma of the small intestine [Term] id: HP:0030412 name: Ileal adenocarcinoma def: "A malignant epithelial tumor with a glandular organization that originates in the ileum." [HPO:probinson] xref: NCIT:C2852 xref: UMLS:C4072936 is_a: HP:0040274 ! Adenocarcinoma of the small intestine [Term] id: HP:0030413 name: Squamous cell carcinoma of the tongue def: "A carcinoma derived from a squamous epithelial cell of the tongue." [HPO:probinson] comment: Squamous cell carcinoma of the tongue is often painless and may present as a non-healing ulcer that demonstrates growth over time. xref: SNOMEDCT_US:276952000 xref: UMLS:C0349566 is_a: HP:0100648 ! Neoplasm of the tongue [Term] id: HP:0030414 name: Verrucous cell carcinoma of the tongue def: "A low-grade variant of squamous cell carcinoma of the tongue with a warty (verrucous) appearance." [] xref: UMLS:C4072937 is_a: HP:0030413 ! Squamous cell carcinoma of the tongue [Term] id: HP:0030415 name: Sarcomatoid carcinoma of the tongue def: "Sarcomatoid (spindle cell) carcinomas of the tongue is a variant of squamous carcinoma of tongue that is monoclonal, having evolved from a conventional squamous carcinoma with dedifferentiation associated with sarcomatoid transformation." [HPO:probinson, pmid:20730609] synonym: "Spindle cell carcinoma of the tongue" EXACT [] xref: UMLS:C2018408 is_a: HP:0030413 ! Squamous cell carcinoma of the tongue [Term] id: HP:0030416 name: Vulvar neoplasm def: "A tumor (abnormal growth of tissue) of the female external genital tract (vulva)." [HPO:probinson] synonym: "Neoplasm of the vulva" EXACT [] synonym: "Tumor of the vulva" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D014846 xref: NCIT:C3262 xref: SNOMEDCT_US:126922007 xref: UMLS:C0042995 is_a: HP:0010787 ! Genital neoplasm [Term] id: HP:0030417 name: Squamous cell carcinoma of the vulva def: "A cancer that originates in the sqamous cells that line the surface of the vulva." [HPO:probinson, pmid:25848321] synonym: "Vulval squamous cell carcinoma" EXACT [] xref: SNOMEDCT_US:254895003 xref: UMLS:C0280856 is_a: HP:0030416 ! Vulvar neoplasm [Term] id: HP:0030418 name: Vulvar melanoma def: "A type of vulvar cancer that originates from melanocytes of the vulva." [HPO:probinson, pmid:8723827] comment: The first symptoms typically noticed by the patients are bleeding, pruritus, or a mass in the groin. Vulvar melanomas are mostly located at the labia minora. xref: SNOMEDCT_US:254896002 xref: UMLS:C0241989 is_a: HP:0030416 ! Vulvar neoplasm [Term] id: HP:0030419 name: Bartholin gland carcinoma def: "A cancer arising in a cell of the Bartholin gland, a racemose gland located slightly posterior to the opening of the vagina." [HPO:probinson, pmid:25013508] comment: Carcinomas of Bartholin's gland are rare tumors that account for less than 1% of all gynecological malignancies. Two major histological types, squamous cell carcinoma and adenocarcinoma, account for 80% to 90% of primary cases. The remainder are adenoid-cystic, transitional, or undifferentiated carcinomas. xref: SNOMEDCT_US:276876007 xref: SNOMEDCT_US:399533005 xref: UMLS:C0349561 is_a: HP:0030416 ! Vulvar neoplasm [Term] id: HP:0030420 name: Vulvar adenocarcinoma def: "An adenocarcinoma arising in the vulva." [HPO:probinson, pmid:23761517] xref: UMLS:C1336975 is_a: HP:0030416 ! Vulvar neoplasm [Term] id: HP:0030421 name: Epididymal neoplasm def: "A tumor (abnormal growth of tissue) of the epididymis, an duct that transports spermatozoa from the testis to the vas deferens." [HPO:probinson] xref: NCIT:C3262 xref: SNOMEDCT_US:126902008 xref: UMLS:C0346239 is_a: HP:0010785 ! Gonadal neoplasm [Term] id: HP:0030422 name: obsolete Papillary cystadenoma of the epididymis is_obsolete: true [Term] id: HP:0030423 name: Splenic cyst def: "A closed sac located in the spleen." [HPO:probinson, pmid:24794024] synonym: "Cyst on spleen" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:79040006 xref: UMLS:C0272407 is_a: HP:0025408 ! Abnormal spleen morphology [Term] id: HP:0030424 name: Epididymal cyst def: "A smooth, extratesticular, spherical cyst in the head of the epididymis." [HPO:probinson, pmid:14767330] comment: Diagnosis of epididymal cyst can be confirmed by scrotal ultrasound. Patients can present with scrotal mass or pain. Epididymal cysts are usually between 3-30 mm in diameter. In some cases they can resolve spontaneously. synonym: "Epididymal cysts" EXACT [HPO:skoehler] xref: MSH:D013088 xref: SNOMEDCT_US:43077002 xref: SNOMEDCT_US:49263001 xref: UMLS:C0037859 is_a: HP:0009714 ! Abnormality of the epididymis [Term] id: HP:0030425 name: Calcified ovarian cyst def: "A cyst of the ovary that exhibits deposition of calcium salts." [HPO:probinson] xref: UMLS:C4072939 is_a: HP:0000138 ! Ovarian cyst [Term] id: HP:0030426 name: Ossifying fibroma def: "A benign central bone tumor composed of fibrous connective tissue within which bone is formed." [HPO:probinson] xref: MSH:D018214 xref: SNOMEDCT_US:25603007 xref: SNOMEDCT_US:302862001 xref: SNOMEDCT_US:302863006 xref: SNOMEDCT_US:80699009 xref: UMLS:C0206640 is_a: HP:0010614 ! Fibroma [Term] id: HP:0030427 name: Ossifying fibroma of the jaw def: "A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed." [HPO:probinson] comment: The mandible is most commonly affected. xref: UMLS:C4072940 is_a: HP:0012290 ! Mouth neoplasm is_a: HP:0030426 ! Ossifying fibroma [Term] id: HP:0030428 name: Cutaneous myxoma def: "A myxoma originating in the skin." [HPO:probinson, pmid:25118746] comment: Cutaneous myxomas are sharply demarcated nodules of the dermis or subcutis that may occur as solitary lesions or in association with Carney complex. Microscopically, cutaneous myxomas in the Carney complex have sharp circumscription, hypocellularity, abundant myxoid stroma, prominent capillaries and an occasional epithelial component. xref: NCIT:C6577 xref: UMLS:C1333178 is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0030429 name: Juvenile nasopharyngeal angiofibroma def: "A benign but highly vascular nasopharyngeal neoplasm. The tumor originates from the sphenopalatine foramen and involves both the pterygopalatine fossa and the posterior nasal cavity." [HPO:probinson, pmid:15661706] xref: SNOMEDCT_US:60392001 xref: SNOMEDCT_US:716590006 xref: UMLS:C1367536 is_a: HP:0012288 ! Neoplasm of head and neck [Term] id: HP:0030430 name: Neuroma def: "A tumor made up of nerve cells and nerve fibers." [HPO:probinson] synonym: "Nerve tumor" EXACT layperson [http://www.apma.org/learn/foothealth.cfm?itemnumber=987, ORCID:0000-0001-5208-3432] synonym: "Pinched nerve" EXACT layperson [http://www.apma.org/learn/foothealth.cfm?itemnumber=987, ORCID:0000-0001-5208-3432] xref: MSH:D009463 xref: SNOMEDCT_US:25169009 xref: SNOMEDCT_US:274089002 xref: SNOMEDCT_US:443892003 xref: SNOMEDCT_US:84116009 xref: UMLS:C0027858 xref: UMLS:C0273482 is_a: HP:0100007 ! Neoplasm of the peripheral nervous system [Term] id: HP:0030431 name: Osteochondroma def: "A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone." [HPO:probinson, pmid:18271966] synonym: "Osteocartilaginous exostoses" EXACT [https://en.wikipedia.org/wiki/osteochondroma, ORCID:0000-0001-5208-3432] synonym: "Osteochondromas" EXACT [HPO:skoehler] xref: MSH:D015831 xref: SNOMEDCT_US:307573009 xref: SNOMEDCT_US:443093007 xref: SNOMEDCT_US:52299001 xref: UMLS:C0029423 is_a: HP:0010622 ! Neoplasm of the skeletal system [Term] id: HP:0030432 name: Chondroblastoma def: "A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells." [HPO:probinson, pmid:19387641] comment: Chondroblastomas of bone are rare benign bone tumours, arising at the cartilaginous growth plate, representing approximately 1-2% of all bone tumors. The most common sites are the proximal humerus and the proximal tibia, but the third most common site is the proximal femur. Histologically, the tumour consists predominantly of well-defined polygonal chondroblast-type cells similar to epiphyseal chondrocytes, with large nucleoli and benign-looking nuclei that have a tendency to be multilobulate and have a continuous dense band of substance along the inner nuclear membrane, intra-cytoplasmic inclusions of glycogen and lipids, numerous mitochondria and superficial secretion vesicles arising from a well developed rough endoplasmic reticulum. There are multi-nucleated giant cells, foci of chondroid matrix, with focal calcification that may acquire a "chicken wire" appearance. Aneurysmal bone cysts are associated with chondroblastoma in 14% of cases. xref: MSH:D002804 xref: SNOMEDCT_US:9001003 xref: UMLS:C0008441 is_a: HP:0010622 ! Neoplasm of the skeletal system [Term] id: HP:0030433 name: Osteoid osteoma def: "A bening tumor of bone composed of a central zone named nidus which is an atypical bone completely enclosed within a well vascularized stroma and a peripheral sclerotic reaction zone." [HPO:probinson, pmid:23329939] xref: MSH:D010017 xref: SNOMEDCT_US:302859004 xref: SNOMEDCT_US:71666005 xref: UMLS:C0029441 is_a: HP:0100246 ! Osteoma [Term] id: HP:0030434 name: Pilomatrixoma def: "Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm." [HPO:probinson, pmid:21430899] comment: Pilomatricomas usually are asymptomatic (pain appears only with associated inflammation and ulceration); deeply seated, firm, nontender subcutaneous masses adherent to the skin but not fixed to the underlying tissue. Stretching of the skin over the tumor shows the "tent sign" with multiple facets and angles, a pathognomonic sign for pilomatricoma. In addition, pressing on one edge of the lesion causes the opposite edge to protrude from the skin like a "teeter-totter". Both these "tent sign" and "teeter-totter sign" are the most helpful clinical clues to the diagnosis of pilomatricoma. xref: MSH:D018296 xref: SNOMEDCT_US:274901004 xref: SNOMEDCT_US:44155009 xref: UMLS:C0206711 is_a: HP:0012842 ! Skin appendage neoplasm [Term] id: HP:0030436 name: Fibrofolliculoma def: "Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation." [HPO:probinson, pmid:17804924] synonym: "Fibrofolliculomas" EXACT [HPO:skoehler] xref: SNOMEDCT_US:128683008 xref: SNOMEDCT_US:254699007 xref: UMLS:C0346011 is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0030437 name: Anal canal neoplasm synonym: "Anal canal tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: NCIT:C3262 xref: SNOMEDCT_US:126850006 xref: UMLS:C0345883 is_a: HP:0004378 ! Abnormality of the anus is_a: HP:0100834 ! Neoplasm of the large intestine [Term] id: HP:0030438 name: Anal canal squamous cell carcinoma def: "A squamous cell carcinoma that originates in the anal canal." [HPO:probinson, pmid:22379406] comment: Patients typically present with bright red bleeding, pain, and/or a palpable mass. When a clinically suspicious lesion is identified, diagnosis relies on cytologic or histologic confirmation. xref: UMLS:C1332262 is_a: HP:0030437 ! Anal canal neoplasm [Term] id: HP:0030439 name: Anal canal adenocarcinoma def: "An adenoma carcinoma that originates in the anal canal." [HPO:probinson, pmid:22379406] comment: Differentiating true anal canal adenocarcinoma from low rectal adenocarcinoma can be challenging. Most anal canal adenocarcinomas originate from anal glands, but cases developing in chronic tracts from fistula in ano are described. Multiple factors, including infection with HPV and HIV, history of receptive anal intercourse, smoking, and immunosuppression have been identified as risk factors. Clinical features include anal pain, induration of the anal canal, or abscess formation and a palpable lump. xref: NCIT:C2852 xref: UMLS:C1332259 is_a: HP:0030437 ! Anal canal neoplasm is_a: HP:0040275 ! Adenocarcinoma of the large intestine [Term] id: HP:0030440 name: Anal margin neoplasm def: "A tumor of the anal margin." [HPO:probinson, pmid:22379406] comment: The anal canal is defined as the caudal part of the large intestine extending from the anorectal ring to the anal verge and is about 3 to 5 cm in length. Outside of the anal verge lies the anal margin, also referred to as the perianal skin, which commonly encompasses a radius of 5 cm. The anal verge can be identified visually as the part of the anal canal remaining closed when the buttocks are gently retracted. The upper anal canal is lined by columnar tissue that transitions into squamous epithelium at the dentate line. The dentate line, identified by the termination of the anal columns, lies 1 to 2 cm above the anal verge. xref: UMLS:C2064234 is_a: HP:0004378 ! Abnormality of the anus [Term] id: HP:0030441 name: Anal margin Paget's disease def: "An intraepithelial adenocarcinoma originating in the anal margin and characterized by presence of typical Paget's cells, appearing as large rounded vacuolated cells." [HPO:probinson, pmid:22379406] comment: Macroscopically, anal margin Paget's disease presents as an erythematous and eczematous rash similar to benign skin conditions or other perianal diseases such as Bowen's disease, hydradenitis suppurativa, pruritus ani, or Crohn's disease. xref: UMLS:C1332270 is_a: HP:0030440 ! Anal margin neoplasm [Term] id: HP:0030442 name: Anal margin squamous cell carcinoma def: "A squamous cell carcinoma that originates in the skin of the anal margin." [HPO:probinson, pmid:22379406] comment: Clinical presentations include pain, bleeding, palpable lump, and discharge. Typically, SCC of the anal margin appears as an ulcerated lesion with rolled everted edges. A significant number of patients are misdiagnosed with an anal fissure, fistula, eczema, or hemorrhoids; therefore a biopsy is recommended for any persistent anal margin lesion not responding to conservative therapy. xref: SNOMEDCT_US:255084004 xref: UMLS:C1412037 is_a: HP:0030440 ! Anal margin neoplasm [Term] id: HP:0030443 name: Anal margin basal cell carcinoma def: "A basal cell carcinoma that originates in the anal margin." [HPO:probinson] xref: UMLS:C1332269 is_a: HP:0030440 ! Anal margin neoplasm [Term] id: HP:0030444 name: Anal margin melanoma def: "A melanoma that originates in the anal margin." [HPO:probinson] xref: UMLS:C4072941 is_a: HP:0030440 ! Anal margin neoplasm [Term] id: HP:0030445 name: Pulmonary carcinoid tumor def: "A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma." [HPO:probinson, pmid:21043816, pmid:24179657] synonym: "Lung carcinoid tumor" EXACT [] xref: SNOMEDCT_US:254627002 xref: UMLS:C0280089 is_a: HP:0100570 ! Carcinoid tumor [Term] id: HP:0030446 name: Atypical pulmonary carcinoid tumor xref: UMLS:C4072942 is_a: HP:0030445 ! Pulmonary carcinoid tumor [Term] id: HP:0030447 name: Merkel cell skin cancer def: "A malignant cutaneous tumor of the elderly that is characterized by an aggressive course with regional nodal involvement, distant metastases and a high rate of recurrence. Most patients present with rapidly growing, painless, firm, non-tender, dome-shaped red, occasionally ulcerated skin nodules, which have a red or bluish color, measuring up to several centimeters, on predominantly sun-exposed areas of the body. The overlying skin is smooth and shiny, sometimes exhibiting ulcerative, acneiform or telangiectatic features." [HPO:probinson, pmid:16565213] synonym: "Anaplastic carcinoma of the skin" EXACT [] synonym: "Cutaneous APUDoma" EXACT [] synonym: "Merkel cell cancer of the skin" EXACT [] synonym: "Neuroendocrine carcinoma of the skin" EXACT [] synonym: "Neuroendocrine tumor of the skin" EXACT [] synonym: "Primary small cell carcinoma of the skin" EXACT [] synonym: "Primary undifferentiated carcinoma of the skin" EXACT [] xref: MSH:D015266 xref: SNOMEDCT_US:253001006 xref: SNOMEDCT_US:254729005 xref: SNOMEDCT_US:5052009 xref: UMLS:C0007129 is_a: HP:0008069 ! Neoplasm of the skin is_a: HP:0040192 ! APUdoma [Term] id: HP:0030448 name: Soft tissue sarcoma def: "A type of sarcoma (A connective tissue neoplasm formed by proliferation of mesodermal cells) that develops from soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues." [HPO:probinson] comment: Soft tissue sarcomas can be found in any part of the body but most often originate in the arms or legs. They can also be found in the trunk, head and neck area, internal organs, and in the retroperitoneum. synonym: "Soft tissue sarcomas" EXACT [HPO:skoehler] xref: MSH:D012509 xref: SNOMEDCT_US:2424003 xref: SNOMEDCT_US:269469005 xref: SNOMEDCT_US:424413001 xref: SNOMEDCT_US:424952003 xref: UMLS:C1261473 is_a: HP:0100242 ! Sarcoma [Term] id: HP:0030449 name: Therapeutic abortion def: "Delivery by means of therapeutic termination of pregnancy. Therapeutic abortion may be done to end a pregnancy if the mother's life is in danger or if the baby has abnormalities involving the major organ systems and is not expected to survive after birth or by choice." [HPO:probinson] xref: MSH:D000032 xref: SNOMEDCT_US:386641000 xref: UMLS:C0000820 is_a: HP:0001787 ! Abnormal delivery [Term] id: HP:0030450 name: Neuroplasm of the autonomic nervous system def: "A tumor that arises from an element of the autonomic nervous system." [] xref: NCIT:C5112 xref: UMLS:C4072943 is_a: HP:0100007 ! Neoplasm of the peripheral nervous system [Term] id: HP:0030451 name: Mesenteric cyst def: "A closed fluid filled sac originating from the mesentary." [HPO:probinson, PMID:24936122] comment: A mesenteric cyst is defined as any cyst located in the mesentery; it may or may not extend into the retroperitoneum, which has a recognizable lining of endothelium or mesothelial cell. Mesenteric cyst can occur anywhere in the mesentery of gastrointestinal tract from duodenum to rectum. Mesenteric cysts can be simple or multiple, unilocular or multilocular, and they may contain hemorrhagic, serous, chylous, or infected fluid. They can range in size from a few millimetres to few cm in diameter, however, at times may be so large that it may mimic tubercular ascites. xref: MSH:D008639 xref: SNOMEDCT_US:253802003 xref: SNOMEDCT_US:27970007 xref: UMLS:C0025467 is_a: HP:0100016 ! Abnormality of mesentery morphology [Term] id: HP:0030452 name: Chylolymphatic mesenteric cyst def: "A type of mesenteric cyst that is lined with a thin endothelium or mesothelium and filled with chylous and lymphatic fluid." [HPO:probinson, pmid:19946589] xref: UMLS:C4072944 is_a: HP:0030451 ! Mesenteric cyst [Term] id: HP:0030453 name: Abnormal visual electrophysiology xref: UMLS:C4072945 is_a: HP:0012373 ! Abnormal eye physiology [Term] id: HP:0030454 name: Abnormal electrooculogram def: "The clinical electro-oculogram (EOG) is an electrophysiological test of function of the outer retina and retinal pigment epithelium (RPE) in which changes in electrical potential across the RPE are recorded during successive periods of dark and light adaptation." [pmid:21298321] synonym: "Abnormal EOG" EXACT [] xref: SNOMEDCT_US:442770004 xref: UMLS:C0159104 is_a: HP:0030453 ! Abnormal visual electrophysiology [Term] id: HP:0030455 name: Abnormality of pattern visual evoked potentials xref: UMLS:C4072946 is_a: HP:0000649 ! Abnormality of visual evoked potentials [Term] id: HP:0030456 name: Abnormality of pattern onset/offset visual evoked potentials synonym: "Abnormality of pattern onset/offset VEP" EXACT [] xref: UMLS:C4072947 is_a: HP:0030455 ! Abnormality of pattern visual evoked potentials [Term] id: HP:0030457 name: Abnormal amplitude of pattern onset/offset visual evoked potentials synonym: "Abnormal amplitude of pattern onset/offset VEP" EXACT [] xref: UMLS:C4072948 is_a: HP:0030456 ! Abnormality of pattern onset/offset visual evoked potentials [Term] id: HP:0030458 name: Abnormal timing of pattern onset/offset visual evoked potentials xref: UMLS:C4072949 is_a: HP:0030456 ! Abnormality of pattern onset/offset visual evoked potentials [Term] id: HP:0030460 name: Abnormal timing of pattern reversal visual evoked potentials xref: UMLS:C4072950 is_a: HP:0100289 ! Abnormality of pattern reversal visual evoked potentials [Term] id: HP:0030461 name: Abnormal timing of flash visual evoked potentials xref: UMLS:C4072951 is_a: HP:0007928 ! Abnormal flash visual evoked potentials [Term] id: HP:0030462 name: Abnormal amplitude of flash visual evoked potentials xref: UMLS:C4072952 is_a: HP:0007928 ! Abnormal flash visual evoked potentials [Term] id: HP:0030463 name: Asymmetrical distribution of flash visual evoked potentials synonym: "Crossed asymmetry of flash visual evoked potentials" EXACT [] xref: UMLS:C4072953 is_a: HP:0007928 ! Abnormal flash visual evoked potentials [Term] id: HP:0030464 name: Asymmetrical distribution of pattern reversal visual evoked potentials synonym: "Crossed asymmetry of pattern reversal visual evoked potentials" EXACT [] xref: UMLS:C4072954 is_a: HP:0100289 ! Abnormality of pattern reversal visual evoked potentials [Term] id: HP:0030465 name: Undetectable light-adapted electroretinogram def: "No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells." [PMID:25502644] synonym: "Absent photopic (cone) responses on ERG" EXACT [] synonym: "non-detectable photopic ERG" EXACT [] xref: UMLS:C4072955 is_a: HP:0008275 ! Abnormal light-adapted electroretinogram [Term] id: HP:0030466 name: Abnormal full-field electroretinogram xref: UMLS:C4072956 is_a: HP:0000512 ! Abnormal electroretinogram [Term] id: HP:0030467 name: Abnormal pattern electroretinogram def: "An anomalous response to a pattern electroretinogram (PERG), a particular kind of ERG obtained in response to contrast modulation of patterned visual stimuli at constant mean luminance-typically contrast-reversing gratings or checkerboards-whose characteristics are fundamentally different from those of the traditional ERG in response to diffuse flashes of light." [HPO:probinson, PMID:17522779, PMID:3076152] xref: UMLS:C4072957 is_a: HP:0000512 ! Abnormal electroretinogram [Term] id: HP:0030468 name: Abnormal multifocal electroretinogram xref: UMLS:C4072958 is_a: HP:0000512 ! Abnormal electroretinogram [Term] id: HP:0030469 name: Abnormal dark-adapted electroretinogram xref: UMLS:C4072959 is_a: HP:0030466 ! Abnormal full-field electroretinogram [Term] id: HP:0030470 name: Abnormal dark-adapted bright flash electroretinogram xref: UMLS:C4072960 is_a: HP:0030469 ! Abnormal dark-adapted electroretinogram [Term] id: HP:0030471 name: Abnormal dark-adapted dim flash electroretinogram xref: UMLS:C4072961 is_a: HP:0030469 ! Abnormal dark-adapted electroretinogram [Term] id: HP:0030472 name: Abnormal light-adapted single flash electroretinogram xref: UMLS:C4072962 is_a: HP:0008275 ! Abnormal light-adapted electroretinogram [Term] id: HP:0030473 name: Abnormal light-adapted flicker electroretinogram synonym: "Abnormal light-adapted 30Hz flicker electroretinogram" EXACT [] synonym: "Abnormal light-adapted 30Hz flicker ERG" EXACT HP:0045077 [] synonym: "Abnormal light-adapted flicker electroretinogram" EXACT [] synonym: "Abnormal light-adapted flicker ERG" EXACT HP:0045077 [] xref: UMLS:C4072963 is_a: HP:0008275 ! Abnormal light-adapted electroretinogram [Term] id: HP:0030474 name: Undetectable dark-adapted electroretinogram xref: UMLS:C4072964 is_a: HP:0030469 ! Abnormal dark-adapted electroretinogram [Term] id: HP:0030475 name: Abnormal timing of dark-adapted dim flash electroretinogram xref: UMLS:C4072965 is_a: HP:0030471 ! Abnormal dark-adapted dim flash electroretinogram [Term] id: HP:0030476 name: Abnormal amplitude of dark-adapted dim flash electroretinogram xref: UMLS:C4072966 is_a: HP:0030471 ! Abnormal dark-adapted dim flash electroretinogram [Term] id: HP:0030477 name: Abnormal timing of dark-adapted bright flash electroretinogram xref: UMLS:C4072967 is_a: HP:0030470 ! Abnormal dark-adapted bright flash electroretinogram [Term] id: HP:0030478 name: Abnormal amplitude of dark-adapted bright flash electroretinogram xref: UMLS:C4072968 is_a: HP:0030470 ! Abnormal dark-adapted bright flash electroretinogram [Term] id: HP:0030479 name: Abnormal amplitude of light-adapted flicker electroretinogram xref: UMLS:C4072969 is_a: HP:0030473 ! Abnormal light-adapted flicker electroretinogram [Term] id: HP:0030480 name: Abnormal timing of light-adapted flicker electroretinogram xref: UMLS:C4072970 is_a: HP:0030473 ! Abnormal light-adapted flicker electroretinogram [Term] id: HP:0030481 name: Abnormal amplitude of light-adapted single flash electroretinogram xref: UMLS:C4072971 is_a: HP:0030472 ! Abnormal light-adapted single flash electroretinogram [Term] id: HP:0030482 name: Abnormal timing of light-adapted single flash electroretinogram xref: UMLS:C4072972 is_a: HP:0030472 ! Abnormal light-adapted single flash electroretinogram [Term] id: HP:0030483 name: Reduced amplitude of dark-adapted bright flash electroretinogram a-wave def: "An abnormal reduction in the amplitude of the a-wave." [] xref: UMLS:C4072973 is_a: HP:0030478 ! Abnormal amplitude of dark-adapted bright flash electroretinogram [Term] id: HP:0030484 name: Supernormal dark-adapted bright flash electroretinogram b-wave xref: UMLS:C4072974 is_a: HP:0030478 ! Abnormal amplitude of dark-adapted bright flash electroretinogram [Term] id: HP:0030485 name: Abnormal amplitude of pattern electroretinogram xref: UMLS:C4072975 is_a: HP:0030467 ! Abnormal pattern electroretinogram [Term] id: HP:0030486 name: Abnormal timing of pattern electroretinogram xref: UMLS:C4072976 is_a: HP:0030467 ! Abnormal pattern electroretinogram [Term] id: HP:0030487 name: Abnormal P50/N95 ratio of pattern electroretinogram xref: UMLS:C4072977 is_a: HP:0030467 ! Abnormal pattern electroretinogram [Term] id: HP:0030488 name: Abnormal central response of multifocal electroretinogram xref: UMLS:C4072978 is_a: HP:0030468 ! Abnormal multifocal electroretinogram [Term] id: HP:0030489 name: Abnormal paracentral response of multifocal electroretinogram xref: UMLS:C4072979 is_a: HP:0030468 ! Abnormal multifocal electroretinogram [Term] id: HP:0030490 name: Exudative vitreoretinopathy xref: UMLS:C4072980 is_a: HP:0007773 ! Vitreoretinopathy [Term] id: HP:0030491 name: Choriocapillaris atrophy def: "Atrophy of the capillary lamina of choroid." [HPO:probinson] xref: UMLS:C3275758 is_a: HP:0000533 ! Chorioretinal atrophy [Term] id: HP:0030493 name: Abnormality of foveal pigmentation def: "An anomaly of the pigmentation in the fovea centralis." [] xref: UMLS:C4072981 is_a: HP:0000493 ! Abnormal foveal morphology is_a: HP:0008002 ! Abnormality of macular pigmentation [Term] id: HP:0030494 name: Macular microaneurysm/hemorrhage def: "Small, red dots in the superficial retinal layers (it is difficult to distinguish between small hemorrhages and microaneurysms)." [] xref: UMLS:C4072982 is_a: HP:0030495 ! Abnormality morphology of the macular vasculature is_a: HP:0032416 ! Retinal microaneurysm [Term] id: HP:0030495 name: Abnormality morphology of the macular vasculature def: "Any structural anomaly of the blood vessels of the macula." [] synonym: "Abnormality of macular vasculature" EXACT [] xref: UMLS:C4072983 is_a: HP:0001103 ! Abnormal macular morphology [Term] id: HP:0030496 name: Macular exudate def: "Yellow-white intraretinal deposits in the macula typically associated with damaged outer blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature." [ORCID:0000-0003-0986-4123] synonym: "Macular exudates" EXACT HP:0045078 [] synonym: "Macular exudation" EXACT [] xref: UMLS:C4072984 is_a: HP:0030495 ! Abnormality morphology of the macular vasculature [Term] id: HP:0030497 name: Macular cotton wool spot def: "Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels." [PMID:6169833] comment: Cotton-wool spots (CWSs) are common retinal manifestations of many diseases including diabetes mellitus, systemic hypertension, and acquired immunodeficiency syndrome. xref: UMLS:C4072985 is_a: HP:0030500 ! Yellow/white lesions of the macula is_a: HP:0031606 ! Retinal cotton wool spot [Term] id: HP:0030498 name: Macular thickening def: "Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging." [ORCID:0000-0003-0986-4123] xref: UMLS:C4072986 is_a: HP:0001103 ! Abnormal macular morphology [Term] id: HP:0030499 name: Macular drusen def: "Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. This class refers to the presence of Drusen in the macula." [HPO:probinson] synonym: "Lipid accumulation in macula" RELATED [] xref: SNOMEDCT_US:247154004 xref: UMLS:C0677628 is_a: HP:0011510 ! Drusen is_a: HP:0030500 ! Yellow/white lesions of the macula [Term] id: HP:0030500 name: Yellow/white lesions of the macula xref: UMLS:C4072987 is_a: HP:0001103 ! Abnormal macular morphology is_a: HP:0030506 ! Yellow/white lesions of the retina [Term] id: HP:0030501 name: Macular crystals def: "Crystalline deposits in the macula." [] xref: UMLS:C4072988 is_a: HP:0030500 ! Yellow/white lesions of the macula [Term] id: HP:0030502 name: Retinoschisis def: "Splitting of the neuroretinal layers of the retina." [HPO:probinson] xref: MSH:D041441 xref: SNOMEDCT_US:44268007 xref: UMLS:C0152439 is_a: HP:0000479 ! Abnormal retinal morphology [Term] id: HP:0030503 name: Macular telangiectasia synonym: "Juxtafoveal telangiectasia" EXACT [] synonym: "Parafoveal telangiectasia" EXACT [] xref: SNOMEDCT_US:232024000 xref: UMLS:C0339480 is_a: HP:0007763 ! Retinal telangiectasia is_a: HP:0030495 ! Abnormality morphology of the macular vasculature [Term] id: HP:0030504 name: Grouped congenital hypertrophy of retinal pigment epithelium synonym: "Bear track congenital hypertrophy of retinal pigment epithelium" EXACT [] xref: UMLS:C4072989 is_a: HP:0007649 ! Congenital hypertrophy of retinal pigment epithelium [Term] id: HP:0030505 name: Nummular pigmentation of the fundus def: "Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium." [PMID:21763485] synonym: "Nummular pigmentation of the retina" EXACT [] xref: UMLS:C4072990 is_a: HP:0000580 ! Pigmentary retinopathy [Term] id: HP:0030506 name: Yellow/white lesions of the retina xref: UMLS:C4072991 is_a: HP:0000479 ! Abnormal retinal morphology [Term] id: HP:0030507 name: Retinal crystals def: "Crystalline deposits in the retina." [PMID:12498506] comment: Crystalline deposits in the retina may be associated with a wide variety of systemic disorders such as oxalosis, cystinosis, hyperornithinaemia and Sjogren-Larsson syndrome. Refractile crystalline deposits may also be a manifestation of drug toxicity like the antineoplastic agent tamoxifen, the anesthetic methoxyflurane and the oral tanning agent canthaxanthine. Crystals may also occur in drug abusers who inject multiple crushed tablets of methadone or meperidine intravenously (talc retinopathy). xref: UMLS:C4072992 is_a: HP:0030506 ! Yellow/white lesions of the retina [Term] id: HP:0030508 name: Retinal cavernous hemangioma synonym: "Retinal cavernous haemangioma" EXACT [] xref: SNOMEDCT_US:312937006 xref: UMLS:C0730304 is_a: HP:0009594 ! Retinal hamartoma [Term] id: HP:0030509 name: Retinal racemose hemangioma synonym: "Retinal racemose haemangioma" EXACT [] xref: UMLS:C4072993 is_a: HP:0009594 ! Retinal hamartoma [Term] id: HP:0030510 name: Combined hamartoma of the retinal pigment epithelium and retina xref: UMLS:C1862062 is_a: HP:0009594 ! Retinal hamartoma [Term] id: HP:0030511 name: Bradyopsia def: "Difficulty in seeing moving objects." [pmid:25770143] synonym: "Difficulty seeing moving objects" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:C564243 xref: SNOMEDCT_US:711163009 xref: UMLS:C1842073 is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0030512 name: Difficulty adjusting to changes in luminance xref: UMLS:C4072994 is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0030513 name: Difficulty adjusting from light to dark xref: UMLS:C4072995 is_a: HP:0030512 ! Difficulty adjusting to changes in luminance [Term] id: HP:0030514 name: Difficulty adjusting from dark to light xref: UMLS:C4072996 is_a: HP:0030512 ! Difficulty adjusting to changes in luminance [Term] id: HP:0030515 name: Moderately reduced visual acuity def: "Moderate reduction of the ability to see defined as visual acuity less than 6/18 (20/60 in US notation; 0.5 in decimal notation) but at least 6/60 (20/200 in US notation; 0.1 in decimal notation)." [ORCID:0000-0001-5208-3432, PMID:28779882] synonym: "Moderate reduction in visual acuity" EXACT [] synonym: "Moderate vision loss" EXACT [] synonym: "Moderate visual impairment" EXACT layperson [] synonym: "Moderate visual loss" EXACT [] xref: SNOMEDCT_US:397542006 xref: UMLS:C1301510 is_a: HP:0007663 ! Reduced visual acuity [Term] id: HP:0030516 name: Homonymous hemianopia synonym: "Homonymous hemianopsia" EXACT [] xref: MSH:D006423 xref: SNOMEDCT_US:34063005 xref: UMLS:C0271202 is_a: HP:0012377 ! Hemianopia [Term] id: HP:0030517 name: Heteronymous hemianopia synonym: "Heteronymous hemianopsia" EXACT [] xref: SNOMEDCT_US:344104004 xref: SNOMEDCT_US:345121001 xref: UMLS:C0271207 is_a: HP:0012377 ! Hemianopia [Term] id: HP:0030518 name: Congruous homonymous hemianopia synonym: "Congruous hemianopsia" EXACT [] xref: UMLS:C4072997 is_a: HP:0030516 ! Homonymous hemianopia [Term] id: HP:0030519 name: Congruous heteronymous hemianopia xref: UMLS:C4072998 is_a: HP:0030517 ! Heteronymous hemianopia [Term] id: HP:0030520 name: Binasal hemianopia xref: MSH:D006423 xref: SNOMEDCT_US:87278000 xref: UMLS:C0271208 is_a: HP:0030517 ! Heteronymous hemianopia [Term] id: HP:0030521 name: Bitemporal hemianopia xref: MSH:D006423 xref: SNOMEDCT_US:61917005 xref: UMLS:C0221184 is_a: HP:0030517 ! Heteronymous hemianopia [Term] id: HP:0030522 name: Mild constriction of peripheral visual field def: "A diminution of the peripheral visual field whereby at least 50 degrees of central field are preserved in all meridians." [UManchester:psergouniotis] synonym: "Mild peripheral visual field loss" EXACT [] xref: UMLS:C4072999 is_a: HP:0001133 ! Constriction of peripheral visual field [Term] id: HP:0030523 name: obsolete Peripheral visual field constriction with 40-50 degrees central field preserved is_obsolete: true replaced_by: HP:0030525 [Term] id: HP:0030524 name: obsolete Peripheral visual field constriction with 30-39 degrees central field preserved is_obsolete: true replaced_by: HP:0030525 [Term] id: HP:0030525 name: Moderate constriction of peripheral visual field alt_id: HP:0030523 alt_id: HP:0030524 def: "Peripheral visual field constriction with 20-49 degrees binocular visual field preserved." [] synonym: "Moderate peripheral visual field loss" EXACT [] xref: UMLS:C4073002 is_a: HP:0001133 ! Constriction of peripheral visual field [Term] id: HP:0030526 name: Severe constriction of peripheral visual field def: "Peripheral visual field constriction with 10-19 degrees central field preserved." [] synonym: "Severe peripheral visual field loss" EXACT [] xref: UMLS:C4073003 is_a: HP:0001133 ! Constriction of peripheral visual field [Term] id: HP:0030527 name: Very severe constriction of peripheral visual field def: "Peripheral visual field constriction with <10 degrees central field preserved." [] synonym: "Very severe peripheral visual field loss" EXACT [] xref: UMLS:C4073004 is_a: HP:0001133 ! Constriction of peripheral visual field [Term] id: HP:0030528 name: Paracentral scotoma xref: MSH:D012607 xref: SNOMEDCT_US:64418005 xref: UMLS:C0271197 is_a: HP:0000575 ! Scotoma [Term] id: HP:0030529 name: Ring scotoma xref: MSH:D012607 xref: SNOMEDCT_US:129625005 xref: UMLS:C0438434 is_a: HP:0000575 ! Scotoma [Term] id: HP:0030530 name: Arcuate scotoma synonym: "Arc-shaped blind spot" BROAD layperson [ORCID:0000-0001-5208-3432] xref: MSH:D012607 xref: SNOMEDCT_US:15462009 xref: UMLS:C0271198 xref: UMLS:C4280302 is_a: HP:0000575 ! Scotoma [Term] id: HP:0030531 name: Altitudinal visual field defect xref: UMLS:C4073005 is_a: HP:0001123 ! Visual field defect [Term] id: HP:0030532 name: Visual acuity test abnormality xref: UMLS:C4073006 is_a: HP:0007663 ! Reduced visual acuity [Term] id: HP:0030533 name: Abnormal unaided visual acuity test xref: UMLS:C4073007 is_a: HP:0030532 ! Visual acuity test abnormality [Term] id: HP:0030534 name: Abnormal best corrected visual acuity test xref: UMLS:C4073008 is_a: HP:0030532 ! Visual acuity test abnormality [Term] id: HP:0030535 name: Abnormal pinhole visual acuity test xref: UMLS:C4073009 is_a: HP:0030532 ! Visual acuity test abnormality [Term] id: HP:0030536 name: Unaided visual acuity 0.1 LogMAR xref: UMLS:C4073010 is_a: HP:0030533 ! Abnormal unaided visual acuity test [Term] id: HP:0030537 name: Unaided visual acuity 0.2 LogMAR xref: UMLS:C4073011 is_a: HP:0030533 ! Abnormal unaided visual acuity test [Term] id: HP:0030538 name: Unaided visual acuity 0.3 LogMAR xref: UMLS:C4073012 is_a: HP:0030533 ! Abnormal unaided visual acuity test [Term] id: HP:0030539 name: Unaided visual acuity 0.4 LogMAR xref: UMLS:C4073013 is_a: HP:0030533 ! Abnormal unaided visual acuity test [Term] id: HP:0030540 name: Unaided visual acuity 0.5 LogMAR xref: UMLS:C4073014 is_a: HP:0030533 ! Abnormal unaided visual acuity test [Term] id: HP:0030541 name: Unaided visual acuity 0.6 LogMAR xref: UMLS:C4073015 is_a: HP:0030533 ! Abnormal unaided visual acuity test [Term] id: HP:0030542 name: Unaided visual acuity 0.7 LogMAR xref: UMLS:C4073016 is_a: HP:0030533 ! Abnormal unaided visual acuity test [Term] id: HP:0030543 name: Unaided visual acuity 0.8 LogMAR xref: UMLS:C4073017 is_a: HP:0030533 ! Abnormal unaided visual acuity test [Term] id: HP:0030544 name: Unaided visual acuity 0.9 LogMAR xref: UMLS:C4073018 is_a: HP:0030533 ! Abnormal unaided visual acuity test [Term] id: HP:0030545 name: Unaided visual acuity 1.0 LogMAR xref: UMLS:C4073019 is_a: HP:0030533 ! Abnormal unaided visual acuity test [Term] id: HP:0030546 name: Unaided visual acuity 1.1 LogMAR xref: UMLS:C4073020 is_a: HP:0030533 ! Abnormal unaided visual acuity test [Term] id: HP:0030547 name: Unaided visual acuity 1.2 LogMAR xref: UMLS:C4073021 is_a: HP:0030533 ! Abnormal unaided visual acuity test [Term] id: HP:0030548 name: Unaided visual acuity 1.3 LogMAR xref: UMLS:C4073022 is_a: HP:0030533 ! Abnormal unaided visual acuity test [Term] id: HP:0030549 name: Unaided visual acuity 2.0 LogMAR xref: UMLS:C4073023 is_a: HP:0030533 ! Abnormal unaided visual acuity test [Term] id: HP:0030550 name: Unaided visual acuity 3.0 LogMAR xref: UMLS:C4073024 is_a: HP:0030533 ! Abnormal unaided visual acuity test [Term] id: HP:0030551 name: Visual acuity light perception with projection xref: UMLS:C4073025 is_a: HP:0030532 ! Visual acuity test abnormality [Term] id: HP:0030552 name: Visual acuity light perception without projection xref: UMLS:C4073026 is_a: HP:0030532 ! Visual acuity test abnormality [Term] id: HP:0030553 name: Visual acuity no light perception xref: SNOMEDCT_US:63063006 xref: UMLS:C0442774 is_a: HP:0030532 ! Visual acuity test abnormality [Term] id: HP:0030554 name: Best corrected visual acuity 0.1 LogMAR xref: UMLS:C4073027 is_a: HP:0030534 ! Abnormal best corrected visual acuity test [Term] id: HP:0030555 name: Best corrected visual acuity 0.2 LogMAR xref: UMLS:C4073028 is_a: HP:0030534 ! Abnormal best corrected visual acuity test [Term] id: HP:0030556 name: Best corrected visual acuity 0.3 LogMAR xref: UMLS:C4073029 is_a: HP:0030534 ! Abnormal best corrected visual acuity test [Term] id: HP:0030557 name: Best corrected visual acuity 0.4 LogMAR xref: UMLS:C4073030 is_a: HP:0030534 ! Abnormal best corrected visual acuity test [Term] id: HP:0030558 name: Best corrected visual acuity 0.5 LogMAR xref: UMLS:C4073031 is_a: HP:0030534 ! Abnormal best corrected visual acuity test [Term] id: HP:0030559 name: Best corrected visual acuity 0.7 LogMAR xref: UMLS:C4073032 is_a: HP:0030534 ! Abnormal best corrected visual acuity test [Term] id: HP:0030560 name: Best corrected visual acuity 0.6 LogMAR xref: UMLS:C4073033 is_a: HP:0030534 ! Abnormal best corrected visual acuity test [Term] id: HP:0030561 name: Best corrected visual acuity 0.8 LogMAR xref: UMLS:C4073034 is_a: HP:0030534 ! Abnormal best corrected visual acuity test [Term] id: HP:0030562 name: Best corrected visual acuity 0.9 LogMAR xref: UMLS:C4073035 is_a: HP:0030534 ! Abnormal best corrected visual acuity test [Term] id: HP:0030563 name: Best corrected visual acuity 1.0 LogMAR xref: UMLS:C4073036 is_a: HP:0030534 ! Abnormal best corrected visual acuity test [Term] id: HP:0030564 name: Best corrected visual acuity 1.1 LogMAR xref: UMLS:C4073037 is_a: HP:0030534 ! Abnormal best corrected visual acuity test [Term] id: HP:0030565 name: Best corrected visual acuity 1.2 LogMAR xref: UMLS:C4073038 is_a: HP:0030534 ! Abnormal best corrected visual acuity test [Term] id: HP:0030566 name: Best corrected visual acuity 1.3 LogMAR xref: UMLS:C4073039 is_a: HP:0030534 ! Abnormal best corrected visual acuity test [Term] id: HP:0030567 name: Best corrected visual acuity 2.0 LogMAR xref: UMLS:C4073040 is_a: HP:0030534 ! Abnormal best corrected visual acuity test [Term] id: HP:0030568 name: Best corrected visual acuity 3.0 LogMAR xref: UMLS:C4073041 is_a: HP:0030534 ! Abnormal best corrected visual acuity test [Term] id: HP:0030569 name: Pinhole visual acuity 0.1 LogMAR xref: UMLS:C4073042 is_a: HP:0030535 ! Abnormal pinhole visual acuity test [Term] id: HP:0030570 name: Pinhole visual acuity 0.2 LogMAR xref: UMLS:C4073043 is_a: HP:0030535 ! Abnormal pinhole visual acuity test [Term] id: HP:0030571 name: Pinhole visual acuity 0.3 LogMAR xref: UMLS:C4073044 is_a: HP:0030535 ! Abnormal pinhole visual acuity test [Term] id: HP:0030572 name: Pinhole visual acuity 0.4 LogMAR xref: UMLS:C4073045 is_a: HP:0030535 ! Abnormal pinhole visual acuity test [Term] id: HP:0030573 name: Pinhole visual acuity 0.5 LogMAR xref: UMLS:C4073046 is_a: HP:0030535 ! Abnormal pinhole visual acuity test [Term] id: HP:0030574 name: Pinhole visual acuity 0.6 LogMAR xref: UMLS:C4073047 is_a: HP:0030535 ! Abnormal pinhole visual acuity test [Term] id: HP:0030575 name: Pinhole visual acuity 0.7 LogMAR xref: UMLS:C4073048 is_a: HP:0030535 ! Abnormal pinhole visual acuity test [Term] id: HP:0030576 name: Pinhole visual acuity 0.8 LogMAR xref: UMLS:C4073049 is_a: HP:0030535 ! Abnormal pinhole visual acuity test [Term] id: HP:0030577 name: Pinhole visual acuity 0.9 LogMAR xref: UMLS:C4073050 is_a: HP:0030535 ! Abnormal pinhole visual acuity test [Term] id: HP:0030578 name: Pinhole visual acuity 1.0 LogMAR xref: UMLS:C4073051 is_a: HP:0030535 ! Abnormal pinhole visual acuity test [Term] id: HP:0030579 name: Pinhole visual acuity 1.1 LogMAR xref: UMLS:C4073052 is_a: HP:0030535 ! Abnormal pinhole visual acuity test [Term] id: HP:0030580 name: Pinhole visual acuity 1.2 LogMAR xref: UMLS:C4073053 is_a: HP:0030535 ! Abnormal pinhole visual acuity test [Term] id: HP:0030581 name: Pinhole visual acuity 1.3 LogMAR xref: UMLS:C4073054 is_a: HP:0030535 ! Abnormal pinhole visual acuity test [Term] id: HP:0030582 name: Pinhole visual acuity 2.0 LogMAR xref: UMLS:C4073055 is_a: HP:0030535 ! Abnormal pinhole visual acuity test [Term] id: HP:0030583 name: Pinhole visual acuity 3.0 LogMAR xref: UMLS:C4073056 is_a: HP:0030535 ! Abnormal pinhole visual acuity test [Term] id: HP:0030584 name: Color vision test abnormality xref: UMLS:C4073057 is_a: HP:0000551 ! Color vision defect [Term] id: HP:0030585 name: Red desaturation xref: UMLS:C4073058 is_a: HP:0030584 ! Color vision test abnormality [Term] id: HP:0030586 name: Abnormal Ishihara plate test xref: UMLS:C4073059 is_a: HP:0030584 ! Color vision test abnormality [Term] id: HP:0030587 name: Abnormal Hardy-Rand-Rittler plate test xref: UMLS:C4073060 is_a: HP:0030584 ! Color vision test abnormality [Term] id: HP:0030588 name: Abnormal visual field test def: "Abnormal result of a test designed to test an individual's central and peripheral vision by determining the ability of the individual to perceive objects at differing locations of the visual field." [] xref: UMLS:C0854021 is_a: HP:0001123 ! Visual field defect [Term] id: HP:0030589 name: Abnormal confrontational visual field test xref: UMLS:C4073061 is_a: HP:0030588 ! Abnormal visual field test [Term] id: HP:0030590 name: Abnormal Amsler grid test xref: UMLS:C4073062 is_a: HP:0030588 ! Abnormal visual field test [Term] id: HP:0030591 name: Abnormal kinetic perimetry test xref: UMLS:C4073063 is_a: HP:0030588 ! Abnormal visual field test [Term] id: HP:0030592 name: Abnormal static perimetry test xref: UMLS:C4073064 is_a: HP:0030588 ! Abnormal visual field test [Term] id: HP:0030593 name: Abnormal manual kinetic perimetry test xref: UMLS:C4073065 is_a: HP:0030591 ! Abnormal kinetic perimetry test [Term] id: HP:0030594 name: Abnormal automated kinetic perimetry test xref: UMLS:C4073066 is_a: HP:0030591 ! Abnormal kinetic perimetry test [Term] id: HP:0030595 name: Abnormal static automated perimetry test xref: UMLS:C4073067 is_a: HP:0030592 ! Abnormal static perimetry test [Term] id: HP:0030596 name: Abnormal Humphrey SITA 30-2 perimetry test xref: UMLS:C4073068 is_a: HP:0030595 ! Abnormal static automated perimetry test [Term] id: HP:0030597 name: Abnormal Humphrey SITA 24-2 perimetry test xref: UMLS:C4073069 is_a: HP:0030595 ! Abnormal static automated perimetry test [Term] id: HP:0030598 name: Abnormal Humphrey SITA 10-2 perimetry test xref: UMLS:C4073070 is_a: HP:0030595 ! Abnormal static automated perimetry test [Term] id: HP:0030599 name: Abnormal Estermann grid perimetry test xref: UMLS:C4073071 is_a: HP:0030595 ! Abnormal static automated perimetry test [Term] id: HP:0030601 name: Abnormal posterior segment imaging xref: UMLS:C4073072 is_a: HP:0004329 ! Abnormal posterior eye segment morphology [Term] id: HP:0030602 name: Abnormal fundus autofluorescence imaging def: "Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to provide a density map of lipofuscin, the predominant ocular fluorophore, in the retinal pigment epithelium. Autofluorescent patterns result from the complex interaction of fluorophores such a lipofuscin, which release an autofluorescent signal, and elements such as melanin and rhodopsin, which absorb the excitation beam and attenuate autofluorescence. Other structures such as retinal vessels and the crystalline lens may also influence autofluorescence through blocking and interference." [PMID:27847630] comment: Fundus autofluorescence imagine is used for evaluating age related macular degeneration, macular dystrophies, retinitis pigmentosa, white dot syndromes, retinal drug toxicities, and various other retinal disorders. xref: UMLS:C4073073 is_a: HP:0030601 ! Abnormal posterior segment imaging [Term] id: HP:0030603 name: Abnormal optical coherence tomography xref: UMLS:C3665728 is_a: HP:0030601 ! Abnormal posterior segment imaging [Term] id: HP:0030604 name: Abnormal fundus fluorescein angiography def: "An abnormality observed by retinal fluorescein angiography, which involves the intravenous injection of fluorescein dye followed by fluorescent imaging of the fundus immediately after injection and for up to ten minutes thereafter. It can be used to study various retinal abnormalities including especially anomalies of the choroidal and retinal circulation." [] xref: UMLS:C4073074 is_a: HP:0030601 ! Abnormal posterior segment imaging [Term] id: HP:0030605 name: Abnormal indocyanine green angiography xref: UMLS:C4073075 is_a: HP:0030601 ! Abnormal posterior segment imaging [Term] id: HP:0030606 name: Abnormal OCT-measured macular thickness xref: UMLS:C4073076 is_a: HP:0030612 ! Abnormal retinal morphology on macular OCT [Term] id: HP:0030607 name: Reduced OCT-measured macular thickness xref: UMLS:C4073077 is_a: HP:0030606 ! Abnormal OCT-measured macular thickness [Term] id: HP:0030608 name: Increased OCT-measured macular thickness xref: UMLS:C4073078 is_a: HP:0030606 ! Abnormal OCT-measured macular thickness [Term] id: HP:0030609 name: Photoreceptor layer loss on macular OCT def: "Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography." [HPO:probinson] xref: UMLS:C4073079 is_a: HP:0030612 ! Abnormal retinal morphology on macular OCT [Term] id: HP:0030610 name: Photoreceptor outer segment loss on macular OCT xref: UMLS:C4073080 is_a: HP:0030612 ! Abnormal retinal morphology on macular OCT [Term] id: HP:0030611 name: Retinal pigment epithelial loss on macular OCT xref: UMLS:C4073081 is_a: HP:0030612 ! Abnormal retinal morphology on macular OCT [Term] id: HP:0030612 name: Abnormal retinal morphology on macular OCT xref: UMLS:C4073082 is_a: HP:0030603 ! Abnormal optical coherence tomography [Term] id: HP:0030613 name: Abnormal foveal morphology on macular OCT xref: UMLS:C4073083 is_a: HP:0030612 ! Abnormal retinal morphology on macular OCT [Term] id: HP:0030614 name: Foveal photoreceptor layer loss on macular OCT xref: UMLS:C4073084 is_a: HP:0030613 ! Abnormal foveal morphology on macular OCT [Term] id: HP:0030615 name: Foveal photoreceptor outer segment loss on macular OCT xref: UMLS:C4073085 is_a: HP:0030613 ! Abnormal foveal morphology on macular OCT [Term] id: HP:0030616 name: Foveal retinal pigment epithelial loss on macular OCT xref: UMLS:C4073086 is_a: HP:0030613 ! Abnormal foveal morphology on macular OCT [Term] id: HP:0030617 name: Abnormal OCT-measured foveal thickness xref: UMLS:C4073087 is_a: HP:0030613 ! Abnormal foveal morphology on macular OCT [Term] id: HP:0030618 name: Increased OCT-measured foveal thickness xref: UMLS:C4073088 is_a: HP:0030617 ! Abnormal OCT-measured foveal thickness [Term] id: HP:0030619 name: Reduced OCT-measured foveal thickness xref: UMLS:C4073089 is_a: HP:0030617 ! Abnormal OCT-measured foveal thickness [Term] id: HP:0030620 name: Inner retinal layer loss on macular OCT xref: UMLS:C4073090 is_a: HP:0030612 ! Abnormal retinal morphology on macular OCT [Term] id: HP:0030621 name: Foveal inner retinal layer loss on macular OCT xref: UMLS:C4073091 is_a: HP:0030613 ! Abnormal foveal morphology on macular OCT [Term] id: HP:0030622 name: Abnormal foveal pit on macular OCT xref: UMLS:C4073092 is_a: HP:0030613 ! Abnormal foveal morphology on macular OCT [Term] id: HP:0030623 name: Intraretinal hyporeflective spaces on macular OCT xref: UMLS:C4073093 is_a: HP:0030625 ! Hyporeflective spaces on macular OCT [Term] id: HP:0030624 name: Subretinal hyporeflective spaces on macular OCT xref: UMLS:C4073094 is_a: HP:0030625 ! Hyporeflective spaces on macular OCT [Term] id: HP:0030625 name: Hyporeflective spaces on macular OCT xref: UMLS:C4073095 is_a: HP:0030612 ! Abnormal retinal morphology on macular OCT [Term] id: HP:0030626 name: Foveal intraretinal hyporeflective spaces on macular OCT xref: UMLS:C4073096 is_a: HP:0030627 ! Foveal hyporeflective spaces on macular OCT [Term] id: HP:0030627 name: Foveal hyporeflective spaces on macular OCT xref: UMLS:C4073097 is_a: HP:0030613 ! Abnormal foveal morphology on macular OCT [Term] id: HP:0030628 name: Foveal subretinal hyporeflective spaces on macular OCT xref: UMLS:C4073098 is_a: HP:0030627 ! Foveal hyporeflective spaces on macular OCT [Term] id: HP:0030629 name: Perifoveal ring of hyperautofluorescence xref: UMLS:C4073099 is_a: HP:0030602 ! Abnormal fundus autofluorescence imaging [Term] id: HP:0030630 name: Irregular central macular autofluorescence xref: UMLS:C4073100 is_a: HP:0030602 ! Abnormal fundus autofluorescence imaging [Term] id: HP:0030631 name: Hyperautofluorescent macular lesion def: "Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging." [PMID:27847630] comment: A large portion of hyper-autofluorescent lesions results from alterations in lipofuscin metabolism. Accumulation of lipofuscin in RPE cells, accumulation of bisretinoids in photoreceptor outer segments, and photooxidation of bisretinoids in lipofuscin can all contribute to enhanced autofluorescence. xref: UMLS:C4073101 is_a: HP:0025158 ! Hyperautofluorescent retinal lesion [Term] id: HP:0030632 name: Hypoautofluorescent macular lesion def: "Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging." [PMID:27847630] synonym: "Hypo-autofluorescent macular lesion" EXACT [] xref: UMLS:C4073102 is_a: HP:0025159 ! Hypoautofluorescent retinal lesion [Term] id: HP:0030633 name: Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence xref: UMLS:C4073103 is_a: HP:0030629 ! Perifoveal ring of hyperautofluorescence [Term] id: HP:0030634 name: Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence xref: UMLS:C4073104 is_a: HP:0030629 ! Perifoveal ring of hyperautofluorescence [Term] id: HP:0030635 name: Retinal dystrophy with early macular involvement xref: UMLS:C4049066 is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0030636 name: Occult macular dystrophy def: "Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electoretinogram (ERG), or fluorescein angiogram abnormalities." [ORCID:0000-0003-0986-4123] is_a: HP:0007754 ! Macular dystrophy [Term] id: HP:0030637 name: Congenital stationary cone dysfunction def: "Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia." [UManchester:psergouniotis] synonym: "Cone dysfunction" EXACT [] synonym: "Cone dysfunction syndrome" EXACT [] xref: UMLS:C0543968 is_a: HP:0012373 ! Abnormal eye physiology [Term] id: HP:0030638 name: Congenital stationary night blindness with normal fundus xref: UMLS:C4073105 is_a: HP:0007642 ! Congenital stationary night blindness [Term] id: HP:0030639 name: Congenital stationary night blindness with abnormal fundus xref: UMLS:C4073106 is_a: HP:0007642 ! Congenital stationary night blindness [Term] id: HP:0030640 name: Complete congenital stationary night blindness xref: UMLS:C4048798 is_a: HP:0030638 ! Congenital stationary night blindness with normal fundus [Term] id: HP:0030641 name: Incomplete congenital stationary night blindness xref: UMLS:C4073107 is_a: HP:0030638 ! Congenital stationary night blindness with normal fundus [Term] id: HP:0030642 name: Fundus albipunctatus xref: MSH:C562733 xref: SNOMEDCT_US:68222009 xref: UMLS:C0311338 is_a: HP:0012045 ! Retinal flecks is_a: HP:0030639 ! Congenital stationary night blindness with abnormal fundus [Term] id: HP:0030643 name: Vitelliform-like retinal lesions xref: UMLS:C4073108 is_a: HP:0030506 ! Yellow/white lesions of the retina [Term] id: HP:0030644 name: Blind-spot enlargment synonym: "Blind spot enlargment" EXACT [] xref: UMLS:C4073109 is_a: HP:0001123 ! Visual field defect [Term] id: HP:0030645 name: Central def: "Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure." [] xref: SNOMEDCT_US:26216008 xref: UMLS:C0205099 is_a: HP:0012836 ! Spatial pattern [Term] id: HP:0030646 name: Peripheral xref: SNOMEDCT_US:14414005 xref: UMLS:C0205100 is_a: HP:0012836 ! Spatial pattern [Term] id: HP:0030647 name: Paracentral xref: UMLS:C4073110 is_a: HP:0012836 ! Spatial pattern [Term] id: HP:0030648 name: Midperipheral synonym: "Mid-peripheral" EXACT [] xref: UMLS:C4073111 is_a: HP:0012836 ! Spatial pattern [Term] id: HP:0030649 name: Pericentral xref: UMLS:C4073112 is_a: HP:0012836 ! Spatial pattern [Term] id: HP:0030650 name: Focal xref: SNOMEDCT_US:87017008 xref: UMLS:C0205234 is_a: HP:0012836 ! Spatial pattern [Term] id: HP:0030651 name: Multifocal xref: SNOMEDCT_US:524008 xref: UMLS:C0205292 is_a: HP:0012836 ! Spatial pattern [Term] id: HP:0030652 name: Vitreous haze def: "Vitreous haze is the obscuration of fundus details by vitreous cells and protein exudation." [HPO:probinson, PMID:20719302] xref: UMLS:C4073113 is_a: HP:0011531 ! Vitritis [Term] id: HP:0030654 name: Umbilical cord cyst def: "Any cystic lesion associated with the umbilical cord." [PMID:10206815, PMID:12666213] comment: Umbilical cord cysts can be single or multiple. Most usually, a solitary umbilical cyst is observed. They can be classified as (i) true cysts if they have an epithelial lining (allentoic cyst or omphalomesenteric duct cyst) or false cysts if they do not have an epithelial lining (umbilical cord pseudocyst). xref: UMLS:C4073114 is_a: HP:0010881 ! Abnormality of the umbilical cord [Term] id: HP:0030655 name: Umbilical cord knot def: "An entwining of a segment of umbilical cord, usually without obstructing fetal circulation and commonly result from fetal slippage through a loop of the cord." [PMID:25184085] comment: When the true knot remains tight, it may impede the circulation of the fetus and may result to fetal death in utero especially in labor. xref: SNOMEDCT_US:237309005 xref: UMLS:C0344363 is_a: HP:0010881 ! Abnormality of the umbilical cord created_by: UToronto:chum [Term] id: HP:0030656 name: Umbilical vein varix def: "Focal dilation of the umbilical vein." [] xref: UMLS:C4073115 is_a: HP:0010881 ! Abnormality of the umbilical cord created_by: UToronto:chum [Term] id: HP:0030657 name: Umbilical cord hematoma def: "Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels." [] synonym: "Umbilical cord haematoma" EXACT [] xref: SNOMEDCT_US:86256001 xref: UMLS:C0269855 is_a: HP:0010881 ! Abnormality of the umbilical cord created_by: UToronto:chum [Term] id: HP:0030658 name: Marginal umbilical cord insertion def: "Insertion of the umbilical cord within 2 cm from the placental edge." [PMID:26366000] comment: Marginal cord insertion has an ncidence of about 7 percent of births. It is associated with intrauterine growth retardation, preterm labor and development of velamentous cord insertion. synonym: "Marginal cord insertion" EXACT [] xref: SNOMEDCT_US:51519001 xref: UMLS:C0266788 is_a: HP:0011418 ! Abnormal insertion of umbilical cord created_by: UToronto:chum [Term] id: HP:0030659 name: Velamentous cord insertion def: "Insertion of the umbilical cord into the chorio-amniotic membranes of the placenta." [PMID:26366000] comment: Velamentous cord insertion and an incidence of 1.1 percent of singleton births, and 8.7 to 16 percent of twin births. xref: SNOMEDCT_US:77278008 xref: UMLS:C0266789 is_a: HP:0011418 ! Abnormal insertion of umbilical cord created_by: UToronto:chum [Term] id: HP:0030660 name: Furcate cord insertion def: "Branching of the umbilical cord before its insertion into the placenta." [] xref: UMLS:C4073116 is_a: HP:0011418 ! Abnormal insertion of umbilical cord created_by: UToronto:chum [Term] id: HP:0030661 name: Vitreous snowballs def: "Yellow-white inflammatory aggregates in the vitreous that are found in the midvitreous and inferior periphery." [PMID:20029143] comment: Vitreous snowballs can be observed in intermediate uveitis. xref: SNOMEDCT_US:417393008 xref: UMLS:C1563272 is_a: HP:0011531 ! Vitritis created_by: ORCID:0000-0003-0986-4123 [Term] id: HP:0030662 name: Vitreous inflammatory cells def: "The presence of inflammatory cells such as lymphocytes and macrophages in the vitreous." [] comment: Normally, there are no leukocytes in the vitreous as this is an immune-privileged site. If the blood-retinal barrier is disrupted, then leukocytes gain access to the vitreous. Vitreous inflammatory cells can be measured by flow cytometry of vitreous fluid. xref: UMLS:C4073117 is_a: HP:0011531 ! Vitritis created_by: ORCID:0000-0003-0986-4123 [Term] id: HP:0030663 name: Optically empty vitreous def: "Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity." [PMID:15557460, PMID:7867814] xref: UMLS:C4073118 is_a: HP:0004327 ! Abnormal vitreous humor morphology created_by: ORCID:0000-0003-0986-4123 [Term] id: HP:0030664 name: Beevor's sign def: "Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus." [PMID:2146943] comment: Beevor's sign is said to be characteristic of a spinal cord lesion at the T10 level, but is also described inter alia in amyotrophic lateral sclerosis and in facioscapulohumeral muscular dystrophy. xref: SNOMEDCT_US:61282003 xref: UMLS:C0231616 is_a: HP:0009023 ! Abdominal wall muscle weakness created_by: HPO:probinson [Term] id: HP:0030665 name: Rubral tremor def: "Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements." [PMID:6568936] comment: Rubral tremor can be observed with midbrain injury and probably results from combined lesions of the superior cerebellar peduncle, substantia nigra, and red nucleus with interruption of the outflow pathway from the cerebellum to the motor thalamus. This tremor is present at rest but tends to be slower (3 to 5 Hz) than typical Parkinson tremor (5 to 7 Hz). It also persists unchanged or even increases with postural changes or goal-directed activity. synonym: "Holmes' tremor" EXACT [] xref: MSH:D001259 xref: UMLS:C0750940 is_a: HP:0001337 ! Tremor created_by: Phenotips:chum [Term] id: HP:0030666 name: Retinal neovascularization def: "In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment." [PMID:23329331] comment: When traction retinal detachment involves the macula, which is responsible for reading and driving vision, severe visual loss occurs. synonym: "Retinal neovascularisation" EXACT [] xref: MSH:D015861 xref: SNOMEDCT_US:61267008 xref: UMLS:C0035320 is_a: HP:0008046 ! Abnormal retinal vascular morphology created_by: HPO:probinson [Term] id: HP:0030667 name: Peripheral retinal neovascularization def: "A type of retinal neovascularization that affects the periphery of the retina." [HPO:probinson, PMID:22076700] xref: SNOMEDCT_US:247100001 xref: UMLS:C0474355 is_a: HP:0030666 ! Retinal neovascularization created_by: HPO:probinson [Term] id: HP:0030668 name: Periorbital dermoid cyst def: "A cyst that is localized in the region of the orbit and exhibits an epithelial lining with a keratin-filled lumen. Hair follicles are one of the adnexal structures that are commonly found in walls of dermoid cysts." [] comment: A periorbital dermoid cyst may present as a subcutaneous mass at the lateral aspect of an eyelid. xref: UMLS:C4073119 is_a: HP:0001144 ! Orbital cyst [Term] id: HP:0030669 name: Abnormal ocular adnexa morphology def: "A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva." [] xref: UMLS:C4073120 is_a: HP:0032039 ! Abnormality of the ocular adnexa [Term] id: HP:0030670 name: Hamartoma of the orbital region def: "A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the orbital region." [] xref: UMLS:C4073121 is_a: HP:0000315 ! Abnormality of the orbital region [Term] id: HP:0030671 name: Abnormal common tendinous ring morphology def: "Any anomaly of the ring of fibrous tissue that surrounds the optic nerve at its entrance at the apex of the orbit. The common tendinous ring, also known as the annulus of Zinn or annular tendon, is the origin for five of the seven extraocular muscles." [HPO:probinson] synonym: "Abnormality of the common tendinous ring" EXACT [] xref: UMLS:C4073122 is_a: HP:0030669 ! Abnormal ocular adnexa morphology created_by: ORCID:0000-0003-0986-4123 [Term] id: HP:0030672 name: Asteroid hyalosis def: "The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits." [] comment: Asteroid hyalosis is a degenerative process. xref: SNOMEDCT_US:95800001 xref: UMLS:C0521770 is_a: HP:0004327 ! Abnormal vitreous humor morphology created_by: ORCID:0000-0003-0986-4123 [Term] id: HP:0030673 name: Erosive vitreoretinopathy def: "A form of vitreoretinopathy characterized by thinning (erosion) of the retinal pigment epithelium that permits increased visualization of the choroidal vessels." [PMID:8152765] xref: MSH:C536075 xref: SNOMEDCT_US:232064001 xref: UMLS:C1840452 is_a: HP:0007773 ! Vitreoretinopathy created_by: ORCID:0000-0003-0986-4123 [Term] id: HP:0030674 name: Antenatal onset def: "Onset prior to birth." [HPO:probinson] xref: UMLS:C2673646 is_a: HP:0003674 ! Onset [Term] id: HP:0030675 name: Contracture of proximal interphalangeal joints of 2nd-5th fingers def: "Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd, 3rd, 4th, and 5th fingers due to structural changes in non-bony tissue." [] xref: UMLS:C4073123 is_a: HP:0001215 ! Camptodactyly of 2nd-5th fingers created_by: NIH:jdavis [Term] id: HP:0030676 name: Satyr ear def: "Sharp pointed superior portion of the ear, with variable overfolding of the helix." [PMID:19152421] comment: The satyr ear appears to have an abnormally small upper-lateral portion. More extensive underdevelopment continuing down to and including the lobe produces a more extreme anomaly that, unfortunately, has been called Devil ear. synonym: "Devil ear" EXACT [] xref: UMLS:C4048833 is_a: HP:0000377 ! Abnormality of the pinna created_by: HPO:skoehler [Term] id: HP:0030677 name: Mozart ear def: "A congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded cavum conchae, and a slit-like narrowing of the orifice of the external auditory meatus." [PMID:21587051] xref: UMLS:C4073124 is_a: HP:0000377 ! Abnormality of the pinna created_by: HPO:skoehler [Term] id: HP:0030679 name: Ash-leaf spot def: "A hypopigmented spot in the shape of a leaf from the mountain ash tree." [HPO:probinson, PMID:23761491, PMID:9637809] comment: Wood's light is a blue light with an emission peak of 360 nm. The blue end of visible light is absorbed by epidermal pigmentation. If there is no epidermal pigmentation in a site, the area will appear nonpigmented as compared with the surrounding skin. Minimally visible hypopigmented spots are more easily visualized with the Wood's lamp. Ash-leaf spots are only one variety of hypopigmented macules present on the skin of patients who have tuberous sclerosis. xref: UMLS:C4073125 is_a: HP:0009719 ! Hypomelanotic macule [Term] id: HP:0030680 name: Abnormality of cardiovascular system morphology alt_id: HP:0001632 alt_id: HP:0002564 alt_id: HP:0002565 def: "Any structural anomaly of the heart and great vessels." [] synonym: "Cardiovascular malformations" EXACT [] synonym: "Heart defect" BROAD layperson [] xref: UMLS:C4049796 is_a: HP:0001626 ! Abnormality of the cardiovascular system [Term] id: HP:0030681 name: Abnormal morphology of myocardial trabeculae def: "Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae)." [] xref: UMLS:C4073289 is_a: HP:0001637 ! Abnormal myocardium morphology [Term] id: HP:0030682 name: Left ventricular noncompaction def: "Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer." [PMID:16670098, PMID:25443708] xref: UMLS:C1960469 is_a: HP:0031192 ! Abnormal morphology of left ventricular trabeculae [Term] id: HP:0030683 name: Vaginitis def: "Inflammation of the vagina that can result from a spectrum of conditions that cause vaginal and sometimes vulvar symptoms, such as itching, burning, irritation, odor, and vaginal discharge." [] comment: The most common infectious causes of vaginitis are bacterial vaginosis, vulvovaginal candidiasis, and trichomoniasis. Physicians traditionally diagnose vaginitis using the combination of symptoms, physical examination, pH of vaginal fluid, microscopy, and the whiff test. synonym: "Vulvovaginitis" RELATED [] xref: MSH:D014627 xref: SNOMEDCT_US:30800001 xref: UMLS:C0042267 is_a: HP:0000142 ! Abnormal vagina morphology is_a: HP:0012649 ! Increased inflammatory response [Term] id: HP:0030684 name: Abnormal adiponectin level def: "A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism." [HPO:probinson, PMID:26221520] comment: Lower circulating adiponectin levels is associated with obesity and negatively correlated with insulin resistance. Adiponectin may exert antidiabetic, anti-atherogenic and anti-inflammatory activities in metabolic diseases. xref: UMLS:C4073126 is_a: HP:0003117 ! Abnormal circulating hormone level [Term] id: HP:0030685 name: Decreased adiponectin level def: "A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue." [HPO:probinson] xref: UMLS:C4073127 is_a: HP:0030684 ! Abnormal adiponectin level [Term] id: HP:0030686 name: Increased adiponectin level def: "An elevated circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue." [] xref: UMLS:C4073128 is_a: HP:0030684 ! Abnormal adiponectin level [Term] id: HP:0030687 name: Abnormal glucagon level def: "A deviation from the normal concentration of glucagon in the blood circulation." [HPO:probinson] comment: Glucagon is a 29-amino acid polypeptide that is manufactured by the alpha cells of the pancreatic islets. It plays a key role in glucose counterregulation in response to hypoglycemia. Hypoglycemia is normally a powerful stimulator of glucagon secretion. xref: UMLS:C4073129 is_a: HP:0003117 ! Abnormal circulating hormone level [Term] id: HP:0030688 name: Increased glucagon level def: "An elevated concentration of glucagon in the blood circulation." [] xref: SNOMEDCT_US:131106002 xref: UMLS:C1295677 is_a: HP:0030687 ! Abnormal glucagon level [Term] id: HP:0030689 name: Decreased glucagon level def: "A reduced concentration of glucagon in the blood circulation." [] xref: SNOMEDCT_US:131107006 xref: UMLS:C1295678 is_a: HP:0030687 ! Abnormal glucagon level [Term] id: HP:0030690 name: Gingival cleft def: "A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla." [] xref: SNOMEDCT_US:109622003 xref: UMLS:C0426489 is_a: HP:0000168 ! Abnormality of the gingiva [Term] id: HP:0030691 name: Divergence nystagmus comment: This is a rare condition that may be related to posterior foass abnormalities and can occur with spinocerebellar degeneration. synonym: "A condition in which both eyes beat outward simultaneously." EXACT [] xref: UMLS:C4073130 is_a: HP:0000639 ! Nystagmus [Term] id: HP:0030692 name: Brain neoplasm def: "A benign or malignant neoplasm that arises from or metastasizes to the brain." [] synonym: "Brain tumor" EXACT [] synonym: "Brain tumour" EXACT [] xref: MSH:D001932 xref: NCIT:C2907 xref: SNOMEDCT_US:126952004 xref: SNOMEDCT_US:254935002 xref: UMLS:C0006118 is_a: HP:0100006 ! Neoplasm of the central nervous system [Term] id: HP:0030693 name: Supratentorial neoplasm def: "A benign or malignant neoplasm that occurs within the intracranial cavity above the tentorium cerebelli." [] comment: This represents a group of related tumours ranging from the relatively benign to the highly malignant. synonym: "Pineal parenchymal tumor" EXACT [] synonym: "Pineal parenchymal tumour" EXACT [] xref: MSH:D010871 xref: MSH:D015173 xref: NCIT:C3328 xref: SNOMEDCT_US:127026004 xref: SNOMEDCT_US:359619007 xref: SNOMEDCT_US:47598005 xref: UMLS:C0031941 xref: UMLS:C0038874 is_a: HP:0030692 ! Brain neoplasm [Term] id: HP:0030694 name: Pineal parenchymal cell neoplasm xref: MSH:D010871 xref: SNOMEDCT_US:127026004 xref: SNOMEDCT_US:359619007 xref: SNOMEDCT_US:47598005 xref: UMLS:C0031941 is_a: HP:0010799 ! Pinealoma [Term] id: HP:0030706 name: Ranula def: "A ranula is a mucocele that occurs in the floor of the mouth and usually involve the major salivary glands. Specifically, the ranula originates in the body of the sublingual gland, in the ducts of the sublingual gland, in the Wharton's duct of the submandibular gland or infrequently from the minor salivary glands at this location." [PMID:23291329, UToronto:chum] synonym: "Sublingual cyst" EXACT [] synonym: "Sublingual ptyalocele" EXACT [] xref: MSH:D011900 xref: SNOMEDCT_US:14919007 xref: UMLS:C2242813 is_a: HP:0010286 ! Abnormal salivary gland morphology [Term] id: HP:0030707 name: Unilateral lung agenesis def: "Lack of development of one lung." [] synonym: "Unilateral pulmonary agenesis" EXACT [UToronto:chum] xref: MSH:C562992 xref: UMLS:C4082952 is_a: HP:0006703 ! Aplasia/Hypoplasia of the lungs [Term] id: HP:0030708 name: Myeloschisis def: "The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane." [PMID:20885122, UToronto:chum] comment: Myeloschisis is a cleft spinal cord arising from a failure of neural tube closure. The placode is defined as a plate of embryonic epithelial cells constituting a primordial cell group from which the spinal cord arises and is often seen in a myelomeningocele. In a myelomeningocele, an exposed placode is often a myeloschisis. In other words, a myeloschisis is a collapsed myelomeningocele. When the placode in the myelomeningocele sac is a cleft spinal cord, this anomaly is classified as myeloschisis rather than myelomeningocele. xref: SNOMEDCT_US:360530005 xref: UMLS:C0266507 is_a: HP:0002475 ! Myelomeningocele [Term] id: HP:0030709 name: Myelocystocele def: "Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst." [PMID:9514174, UToronto:chum] comment: Localized dilatation of the central canal of the spinal cord which produces a fluid-filled sac or diverticulum which then protrudes through the cord and the defective dorsal dura between the posterior parts of the vertebra. xref: MSH:D008591 xref: SNOMEDCT_US:203994003 xref: SNOMEDCT_US:414667000 xref: UMLS:C0025312 is_a: HP:0002196 ! Myelopathy [Term] id: HP:0030710 name: Lipomeningocele def: "A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life." [UToronto:chum] xref: SNOMEDCT_US:253120005 xref: UMLS:C0431344 is_a: HP:0002435 ! Meningocele [Term] id: HP:0030711 name: Hydrocolpos def: "Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction." [UToronto:chum] comment: This term is distinct from Hydrometrocolpos (HP:0030010), which indicates additional uterine dilation. xref: MSH:D052202 xref: UMLS:C1399870 is_a: HP:0000142 ! Abnormal vagina morphology [Term] id: HP:0030712 name: Uterine synechiae def: "Adhesions or scar tissue that form inside the cavity of the uterus." [UToronto:chum] comment: Asherman syndrome is a condition characterized by formation of intrauterine adhesions and results from injury to the endometrium. Asherman syndrome is often associated with infertility. synonym: "Asherman syndrome" RELATED [] xref: MSH:D006175 xref: SNOMEDCT_US:48236007 xref: UMLS:C0156372 is_a: HP:0031105 ! Abnormal uterus morphology [Term] id: HP:0030713 name: Vein of Galen aneurysmal malformation def: "Gross dilatation of the vein of Galen, being fed by large anomalous vessel or vessels arising from the carotid or basilar circulation." [UToronto:chum] synonym: "Median prosencephalic arteriovenous fistula" EXACT [] synonym: "Vein of Galen aneurysm" EXACT [] synonym: "Vein of Galen malformation" EXACT [] xref: MSH:C536535 xref: SNOMEDCT_US:253194008 xref: UMLS:C0431420 is_a: HP:0012480 ! Abnormality of cerebral veins [Term] id: HP:0030714 name: Subchorionic thrombohematoma def: "A large maternal clot that separates the chorionic plate from the villous chorion." [PMID:11125254, UToronto:chum] synonym: "Breus' mole" EXACT [] xref: UMLS:C1390676 is_a: HP:0100767 ! Abnormality of the placenta [Term] id: HP:0030715 name: Bronchial atresia def: "A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis." [UToronto:chum] synonym: "Congenital bronchial atresia" EXACT [] xref: SNOMEDCT_US:50513008 xref: UMLS:C0265776 is_a: HP:0025426 ! Abnormal bronchus morphology [Term] id: HP:0030716 name: Acrania def: "Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly." [UToronto:chum] xref: MSH:D009436 xref: SNOMEDCT_US:203923004 xref: UMLS:C0702169 is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0030717 name: Meconium peritonitis def: "Peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications." [PMID:3317498, UToronto:chum] xref: SNOMEDCT_US:57341009 xref: UMLS:C0270250 is_a: HP:0002586 ! Peritonitis [Term] id: HP:0030718 name: Right atrial enlargement def: "Increase in size of the right atrium." [HPO:probinson] comment: This feature can be appreciated on chext radiography, MRI, or CT. synonym: "Dilated right atrium" EXACT [] synonym: "Enlarged heart right atrium" EXACT [] synonym: "Right atrial dilatation" EXACT [] xref: Fyler:1771 xref: Fyler:2859 xref: SNOMEDCT_US:67751000119106 xref: UMLS:C0748427 is_a: HP:0025580 ! Abnormal right atrium morphology [Term] id: HP:0030719 name: Unguarded tricuspid valve def: "A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue." [PMID:14246338, UToronto:chum] synonym: "Rudimentary tricuspid valve leaflets" EXACT [] synonym: "Unguarded tricuspid valve orifice" EXACT [] xref: SNOMEDCT_US:253381001 xref: UMLS:C0344745 is_a: HP:0011662 ! Tricuspid atresia [Term] id: HP:0030720 name: Subchorionic septal cyst def: "Cyst on the surface of the placenta consisting of amnion and chorion." [UToronto:chum] xref: UMLS:C4280801 is_a: HP:0100767 ! Abnormality of the placenta [Term] id: HP:0030721 name: Tetraphocomelia def: "Phocomelia involving all four extremities." [UToronto:chum] xref: UMLS:C1849370 is_a: HP:0009829 ! Phocomelia [Term] id: HP:0030722 name: Ectopic liver def: "Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter." [HPO:probinson, PMID:11988792, PMID:637502] comment: Ectopic liver tissue can occur in several different organs, but the gallbladder is the commonest site of origin. xref: SNOMEDCT_US:253813000 xref: UMLS:C0431603 is_a: HP:0410042 ! Abnormal liver morphology [Term] id: HP:0030723 name: Congenital megalourethra def: "Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa." [PMID:20981865, UToronto:chum] xref: UMLS:C4280800 is_a: HP:0000795 ! Abnormality of the urethra [Term] id: HP:0030724 name: Central nervous system cyst def: "A fluid-filled sac (cyst) located within the central nervous system." [HPO:probinson, PMID:11593239, PMID:24455569] comment: Cysts of CNS are usually maldevelopmental in nature, but in some cases are acquired. The recognition of these cysts radiologically and confirmation by pathology is essential for prognostic purposes. synonym: "CNS cyst" EXACT HP:0045077 [] synonym: "Cyst of the central nervous system" EXACT [] xref: MSH:D020863 xref: SNOMEDCT_US:277333006 xref: UMLS:C0349606 is_a: HP:0002011 ! Morphological abnormality of the central nervous system [Term] id: HP:0030725 name: Neurenteric cyst def: "The neurenteric cyst is a rare lesion composed of heterotopic endodermal tissue. During the third week of human embryogenesis, the neurenteric canal unites the yolk sac and the amniotic cavity as it traverses the primitive notochordal plate. Persistence of the normally transient neurenteric canal prevents appropriate separation of endoderm and notochord. This results in a variable degree of communication between neural and enteric epithelium." [PMID:20890417, UToronto:chum] comment: Individuals diagnosed with neurenteric cysts most frequently present in the second and third decades of life with a male-to-female ratio of approximately 2:1. Moreover, in the pediatric population, 61.2 percent of patients found to have neurenteric cysts are male with a mean age of 6.4 years at presentation. The majority of adult patients with neurenteric cysts present with progressive focal pain at the level of spinal axis pathology, fluctuating myelopathic signs, or radicular symptoms. xref: MSH:D009436 xref: SNOMEDCT_US:253127008 xref: SNOMEDCT_US:41353005 xref: UMLS:C0027806 is_a: HP:0030724 ! Central nervous system cyst [Term] id: HP:0030726 name: Spinal neurenteric cyst def: "A neurenteric cyst located in the spine." [UToronto:chum] xref: UMLS:C4280799 is_a: HP:0030725 ! Neurenteric cyst [Term] id: HP:0030727 name: Intracranial neurenteric cyst def: "A neurenteric cyst located within the skull." [UToronto:chum] xref: UMLS:C4280680 is_a: HP:0030725 ! Neurenteric cyst [Term] id: HP:0030728 name: Meromelia def: "Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot." [UToronto:chum] xref: SNOMEDCT_US:60220000 xref: UMLS:C0265549 is_a: HP:0009826 ! Limb undergrowth [Term] id: HP:0030729 name: Frontoethmoidal meningocele def: "A herniation of meninges through a congenital bone defect in the skull at the junction of the frontal and ethmoidal bones." [HPO:probinson] synonym: "Frontoethmoid meningocele" EXACT [] xref: UMLS:C4280798 is_a: HP:0002435 ! Meningocele [Term] id: HP:0030730 name: Parietal meningocele def: "A herniation of meninges through a congenital bone defect in the skull in the parietal region." [HPO:probinson] xref: UMLS:C4280797 is_a: HP:0002435 ! Meningocele [Term] id: HP:0030731 name: Carcinoma def: "A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus)." [HPO:probinson] xref: MSH:D002277 xref: NCIT:C2916 xref: SNOMEDCT_US:68453008 xref: UMLS:C0007097 is_a: HP:0031492 ! Epithelial neoplasm [Term] id: HP:0030732 name: Dysplastic tricuspid valve def: "A congenital malformation of the tricuspid valve characterized by leaflet deformation." [HPO:probinson, PMID:2007717, PMID:26059011, UToronto:chum] comment: Malformations of the tricuspid valve include a wide range of morphologic features that can be divided into two main groups: those in which the primary lesion is downward displacement of the basal attachment of the mural and septal (or both) leaflets, known as Ebstein's malformation (1), and those without downward displacement but with deformation of the leaflets and the tension apparatus, an arrangement described as dysplasia. In severe cases of dysplasia, the tricuspid valve orifice may become unguarded. Although there is a broad morphologic spectrum, these malformations lead to the same hemodynamic burden, namely, tricuspid regurgitation (TR) and its pathophysiological sequelae. synonym: "Tricuspid valve dysplasia" EXACT [] xref: UMLS:C4255215 is_a: HP:0001702 ! Abnormal tricuspid valve morphology [Term] id: HP:0030733 name: Vesicoallantoic abdominal wall defect def: "An abdominal wall defected related to a developmental anomaly of the allantois, which is an embryonic structure that develops as a diverticulum off the yolk sac at about 16 days post fertilization. During further development, the allantois becomes incorporated into the body of the embryo, connecting the ventral aspect of the urogenital sinus (which will develop into the upper pole of the urinary bladder) to the external portion of the umbilicus. Upon further development, the lumen of the allantois becomes obliterated and forms a thick fibrous cord called the urachus, which connects the apex of the bladder to the umbilicus. In adults, the urachus is known as the median umbilical ligament. Failure of the allantoic cavity to obliterate can result of one of four conditions: 1) congenital patent urachus (a completely open connection between bladder and umbilicus); 2) vesicourachal diverticulum (a diverticulum off the bladder but not communicating with the umbilicus); umbilical cyst and sinus (not communicating with the bladder); and 4) alternating urachal sinus. An abdominal wall defect can be associated with a urachal cyst." [HPO:probinson, PMID:2521673, UToronto:chum] xref: UMLS:C4280796 is_a: HP:0010478 ! Abnormality of the urachus [Term] id: HP:0030735 name: Ureterovesical junction obstruction def: "Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle." [UToronto:chum] xref: UMLS:C2609249 is_a: HP:0006000 ! Ureteral obstruction [Term] id: HP:0030736 name: Sacrococcygeal teratoma def: "A teratoma arising in the sacro-coccygeal region." [UToronto:chum] comment: Sacrococcygeal teratomas arise from totipotent cells from the node of Hensen at the anterior aspect of the coccyx by about the 2nd to 3rd weeks of gestation, and are composed of the all three germ cells (i.e. ectoderm, mesoderm and endoderm). Sacrococcygeal teratomas are classified according to their relative extent outside and inside the body. Altman type I: entirely outside, sometimes attached to the body only by a narrow stalk; Altman type II: mostly outside; Altman type III: mostly inside; Altman type IV: entirely inside. xref: SNOMEDCT_US:281561000 xref: UMLS:C0559459 is_a: HP:0005107 ! Abnormal sacrum morphology is_a: HP:0009792 ! Teratoma [Term] id: HP:0030737 name: Altman type I sacrococcygeal teratoma def: "A type of sacrococcygeal teratoma that is predominantly external and projects from the sacrococcygeal region and presents with distortion of the buttocks." [HPO:probinson] xref: UMLS:C4280795 is_a: HP:0030736 ! Sacrococcygeal teratoma [Term] id: HP:0030738 name: Altman type II sacrococcygeal teratoma def: "A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component." [HPO:probinson] xref: UMLS:C4280794 is_a: HP:0030736 ! Sacrococcygeal teratoma [Term] id: HP:0030739 name: Altman type III sacrococcygeal teratoma def: "A type of sacrococcygeal teratoma that is predominantly intrapelvic with a small external, buttock mass." [HPO:probinson] xref: UMLS:C4280793 is_a: HP:0030736 ! Sacrococcygeal teratoma [Term] id: HP:0030740 name: Anomalous muscle bundle of the right ventricle def: "An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract." [UToronto:chum] comment: The anomalous muscle bundle is triangular in shape, with its apex attached to the anterior aspect of the ventricular septum immediately above and in front of the ventricular septal defect. It crosses the right ventricular chamber to insert at the apical portion of the anterior wall of the right ventricle (PMID:708529). synonym: "Right ventricular anomalous muscle bundle" EXACT [] xref: UMLS:C4280792 is_a: HP:0001707 ! Abnormal right ventricle morphology [Term] id: HP:0030741 name: Mediastinal teratoma def: "A teratoma located within the mediastinum (the cavity between the pleural sacs that contains the heart and all of the thoracic viscera except the lungs)." [UToronto:chum] synonym: "Teratoma of the mediastinum" EXACT [] xref: NCIT:C6438 "Mediastinal teratoma" xref: UMLS:C1334682 is_a: HP:0009792 ! Teratoma [Term] id: HP:0030742 name: Glial remnants posterior to lens def: "This anomaly, also known as Mittendorf dot, is a benign, nonprogressive recognizable lesion that does not cause visual impairment. However, it can resemble a pathological congenital or acquired cataract lesion which may enlarge and cause visual impairment. The dot appears as a black speck that ranges in size from the dot made by a sharp pencil point to the size of a poppy seed. It is usually well defined, although occasionally there may be irregular, fine lines radiating outward from the dot." [] synonym: "Mittendorf dot" EXACT [] xref: SNOMEDCT_US:370483001 xref: UMLS:C1299892 is_a: HP:0007968 ! Remnants of the hyaloid vascular system [Term] id: HP:0030743 name: Glial remnants anterior to the optic disc def: "Persistanced of a posterior remnant of the hyaloid artery located at the optic disc." [HPO:probinson] synonym: "Bergmeister papilla" EXACT [] xref: UMLS:C4280791 is_a: HP:0007968 ! Remnants of the hyaloid vascular system [Term] id: HP:0030744 name: Hyaloid vascular remnant and retrolental mass def: "A type of persistance of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract." [HPO:probinson] xref: UMLS:C4280790 is_a: HP:0007968 ! Remnants of the hyaloid vascular system [Term] id: HP:0030745 name: Dilatation of the ductus arteriosus def: "A saccular or fusiform dilation and elongation of the ductus arteriosus." [PMID:11788230, UToronto:chum] comment: Aneurysm is considered a severe form of dilatation. synonym: "Congenital ductus arteriosus aneurysm" NARROW [] synonym: "Ductus arteriosus aneurysm" NARROW [] xref: SNOMEDCT_US:233990006 xref: UMLS:C0398357 is_a: HP:0002617 ! Dilatation is_a: HP:0011603 ! Congenital malformation of the great arteries [Term] id: HP:0030746 name: Intraventricular hemorrhage def: "Bleeding into the ventricles of the brain." [UToronto:chum] xref: SNOMEDCT_US:23276006 xref: UMLS:C0240059 is_a: HP:0002170 ! Intracranial hemorrhage [Term] id: HP:0030747 name: Preterm intraventricular hemorrhage def: "Intraventricular hemorrhage that occurs in a premature infant." [HPO:probinson] comment: This is a common complication seen in preterm infacnts since the cerebral blood vessels are not yet fully developed. Infants born more than 10 weeks early are at highest risk for this type of bleeding. xref: UMLS:C4280789 is_a: HP:0030746 ! Intraventricular hemorrhage [Term] id: HP:0030748 name: Grade I preterm intraventricular hemorrhage def: "Intraventricular hemorrhage that occurs in a preterm infant and that is restricted to subependymal region/germline matrix which is seen in the caudothalamic groove." [HPO:probinson, PMID:25371784] synonym: "Germinal matrix hemorrhage" EXACT [] xref: SNOMEDCT_US:276650005 xref: UMLS:C0475737 is_a: HP:0030747 ! Preterm intraventricular hemorrhage [Term] id: HP:0030749 name: Grade II preterm intraventricular hemorrhage def: "Intraventricular hemorrhage that occurs in a preterm infant and that has extension into normal-sized ventricles and typically fills less than 50% of the volume of the ventricle." [UToronto:chum] xref: UMLS:C4280788 is_a: HP:0030747 ! Preterm intraventricular hemorrhage [Term] id: HP:0030750 name: Grade III preterm intraventricular hemorrhage def: "Intraventricular hemorrhage that occurs in a preterm infant and that has extension into dilated ventricles." [UToronto:chum] xref: UMLS:C4280787 is_a: HP:0030747 ! Preterm intraventricular hemorrhage [Term] id: HP:0030751 name: Grade IV preterm intraventricular hemorrhage def: "Intraventricular hemorrhage that occurs in a preterm infant and that shows parenchymal extension." [UToronto:chum] xref: UMLS:C4280786 is_a: HP:0030747 ! Preterm intraventricular hemorrhage [Term] id: HP:0030752 name: Dacryocystocele def: "A nasolacrimal duct obstruction presenting as a grey-blue cystic swelling just below the medial canthus. Believed to be a result of concomitant upper obstruction of the Rosenmuller valve and lower obstruction of the Hasner valve." [PMID:19205594, UToronto:chum] synonym: "Timo cyst" EXACT [] xref: SNOMEDCT_US:42758002 xref: UMLS:C0155241 is_a: HP:0000579 ! Nasolacrimal duct obstruction [Term] id: HP:0030753 name: Intrauterine fetal demise of one twin after midgestation def: "Loss of one twin occurring after midgestation (17 weeks gestation)." [HPO:jdavis, PMID:10732306, PMID:2187353, PMID:24361180, PMID:2704493, PMID:9699754] comment: Loss of one twin in the first trimester does not appear to impair the development of the surviving twin. However, fetal death occurring after midgestation (17 weeks' gestation) may increase the risk of IUGR, preterm labor, preeclampsia and perinatal mortality. synonym: "Single-twin demise" RELATED [] xref: UMLS:C4280785 is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0030754 name: Allantoic cyst def: "A swelling formed at the base of umbilicus associated with a patent urachus which results from an allantoic remnant. The urachus is a fibrous remnant of the allantois which communicates from the apex of the urinary bladder to the umbilicus. Failed obliteration of the urachus can lead to various abnormalities: urachal cyst, urachal diverticulum, sinus or patent urachus - the most common type. Allantoic cysts in infants with patent urachus can be formed due to the drainage of urine into the umbilical cord, or in uncommon situations, after leakage of hypo-osmotic urine into the Wharton's jelly." [PMID:24950576, PMID:26213613, UToronto:chum] xref: MSH:D014496 xref: SNOMEDCT_US:17234001 xref: UMLS:C0041915 is_a: HP:0010478 ! Abnormality of the urachus [Term] id: HP:0030755 name: Craniofacial teratoma def: "A teratoma located in the craniofacial region." [UToronto:chum] xref: NCIT:C3403 xref: UMLS:C4280784 is_a: HP:0009792 ! Teratoma [Term] id: HP:0030756 name: Erythrodontia def: "Reddish, brown opalescent discoloration of teeth in normal light." [PMID:21731282] comment: This feature is characteristic of Congenital erythropoietic porphyria (CEP), an autosomal recessive disorder caused by mutation in the gene that codifies uroporphyrinogen-III synthase, leading to porphyrin accumulation in many tissues. synonym: "Red teeth" EXACT [] xref: UMLS:C4280783 is_a: HP:0011073 ! Abnormality of dental color [Term] id: HP:0030757 name: Tooth abscess def: "A pocket of pus located within a region of a tooth." [HPO:probinson] synonym: "Dental abscess" EXACT [] synonym: "Dentoalveolar abscess" EXACT [] xref: SNOMEDCT_US:299709002 xref: UMLS:C0518988 is_a: HP:0011061 ! Abnormality of dental structure is_a: HP:0025615 ! Abscess [Term] id: HP:0030758 name: Periapical tooth abscess def: "A tooth abscess that occurs at the tip of the root (apex) of a tooth." [] xref: UMLS:C4280782 is_a: HP:0030757 ! Tooth abscess [Term] id: HP:0030759 name: Adipocyte hypertrophy def: "An increase in mean adipocyte cell size. This feature can be measured by determining the average cell diameter of adipocytes microscopically using abdominal subcutaneous adipose tissue obtained by biopsy." [HPO:probinson, PMID:25148116] synonym: "Fat cell hypertrophy" EXACT [] xref: UMLS:C4280781 is_a: HP:0009124 ! Abnormal adipose tissue morphology [Term] id: HP:0030760 name: Renal fibrosis def: "Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease." [HPO:probinson, PMID:16408108] synonym: "Kidney fibrosis" EXACT [] xref: SNOMEDCT_US:197660000 xref: UMLS:C0151650 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0030761 name: obsolete Renal glomerular fibrosis is_obsolete: true replaced_by: HP:0000096 [Term] id: HP:0030762 name: Mesangiolysis def: "Dissolution or attenuation of mesangial matrix and degeneration of mesangial cells. In essence, mesangiolysis is an injurious process which affects the glomerular mesangium without causing obvious damage to the capillary basement membranes. The matrix swells, loosens, and eventually dissolves; the mesangial cells may show only edema and vacuolization, or may undergo severe degeneration and necrosis." [HPO:probinson, PMID:6353041] xref: UMLS:C4054531 is_a: HP:0001966 ! Mesangial abnormality [Term] id: HP:0030763 name: Amniotic Sheet def: "A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion." [UToronto:chum] synonym: "Amniotic shelf" EXACT [] xref: UMLS:C4280779 is_a: HP:0011409 ! Abnormality of placental membranes [Term] id: HP:0030764 name: Ochronosis def: "Brown or blue-gray discoloration of the skin tha can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved." [HPO:probinson, PMID:24447956, PMID:26929770] xref: MSH:D009794 xref: SNOMEDCT_US:410042009 xref: UMLS:C0028817 is_a: HP:0011121 ! Abnormality of skin morphology [Term] id: HP:0030765 name: Sleep terror def: "Episodes of intense fear, screaming and flailing although affected individuals are still asleep." [] comment: Sleep terrors may occur in individuals who are sleepwalking. synonym: "Night terror" EXACT [] synonym: "Pavor nocturnus" EXACT [] synonym: "Sleep terrors" EXACT [] xref: MSH:D020184 xref: SNOMEDCT_US:89675003 xref: UMLS:C0037320 is_a: HP:0025235 ! Non-rapid eye movement parasomnia [Term] id: HP:0030766 name: Ear pain def: "Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia)." [PMID:20736106] synonym: "Ear pain" EXACT layperson [] synonym: "Otalgia" EXACT [] synonym: "Pain in the ear" EXACT layperson [] xref: MSH:D004433 xref: SNOMEDCT_US:16001004 xref: SNOMEDCT_US:162356005 xref: UMLS:C0013456 is_a: HP:0012531 ! Pain is_a: HP:0031704 ! Abnormal ear physiology [Term] id: HP:0030767 name: Epignathus def: "Epignathus is a teratoma originating from the upper jaw, usually connected with the sphenoid bone or hard palate." [PMID:19240824, UToronto:chum] xref: SNOMEDCT_US:31248004 xref: UMLS:C0266725 is_a: HP:0009792 ! Teratoma is_a: HP:0100649 ! Neoplasm of the oral cavity [Term] id: HP:0030769 name: Exencephaly def: "A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium." [PMID:21887200, UToronto:chum] xref: MSH:D009436 xref: SNOMEDCT_US:84461004 xref: UMLS:C0266453 is_a: HP:0045005 ! Neural tube defect [Term] id: HP:0030770 name: Craniorachischisis def: "A neural tube defect in which both the brain and spinal cord remain open to varying degrees." [PMID:22095531, UToronto:chum] xref: MSH:D009436 xref: SNOMEDCT_US:32219008 xref: UMLS:C0152426 is_a: HP:0045005 ! Neural tube defect [Term] id: HP:0030771 name: Mallet finger def: "Mallet finger refers to a condition in which the end joint of a finger bends but will not straighten by itself. In this situation, the joint can be pushed straight but will not hold that position on its own." [HPO:jmcmurry, PMID:24839413] xref: SNOMEDCT_US:64298006 xref: UMLS:C0158473 is_a: HP:0001167 ! Abnormality of finger [Term] id: HP:0030772 name: Proximal femoral focal deficiency def: "Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb." [PMID:21438051, PMID:23915863, UToronto:chum] xref: SNOMEDCT_US:205211001 xref: UMLS:C0431996 is_a: HP:0005613 ! Aplasia/hypoplasia of the femur [Term] id: HP:0030773 name: Internuclear ophthalmoplegia def: "An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule." [HPO:probinson, PMID:1344079, PMID:21687160, PMID:25145891] xref: MSH:D015835 xref: SNOMEDCT_US:49823009 xref: UMLS:C0152134 is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0030774 name: Mitochondrial swelling def: "The mitochondrial matrix refers to the substance occupying the space enclosed by the inner membrane of a mitochondrion, which contains enzymes, DNA, granules, and inclusions of protein crystals, glycogen, and lipid. Mitochondrial swelling refers to an increase in size of the mitochondrial matrix. This phenomenon is thought to be related to a permeabilized inner membrane that originates a large swelling in the mitochondrial matrix. Mitochondrial swelling may distend the outer membrane until it ruptures." [HPO:probinson, PMID:22907871] xref: MSH:D008933 xref: SNOMEDCT_US:125429001 xref: UMLS:C0026244 is_a: HP:0012087 ! Abnormal mitochondrial shape [Term] id: HP:0030775 name: Modic type vertebral endplate changes def: "An abnormal magnetic resonance tomography signal from a vertebral endplate according to a widely used classification published by Dr. Michael Modic." [HPO:probinson, PMID:24162519] xref: UMLS:C4280778 is_a: HP:0003468 ! Abnormal vertebral morphology [Term] id: HP:0030776 name: Modic type I vertebral endplate changes def: "An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1-weighted sequences and high signal on T2-weighted sequences. Modic type I changes are thought to represent bone marrow edema and inflammation." [HPO:probinson, PMID:24162519] synonym: "Modic type 1 vertebral endplate changes" EXACT [] xref: UMLS:C4280777 is_a: HP:0030775 ! Modic type vertebral endplate changes [Term] id: HP:0030777 name: Modic type II vertebral endplate changes def: "An abnormal magnetic resonance tomography signal from a vertebral endplate with a high signal on T1-weighted sequences and high- or isointense signal on T2 sequences. Modic type II signals are thought to indicate fatty replacement in the bone marrow." [HPO:probinson, PMID:24162519] synonym: "Modic type 2 vertebral endplate changes" EXACT [] xref: UMLS:C4280776 is_a: HP:0030775 ! Modic type vertebral endplate changes [Term] id: HP:0030778 name: Modic type III vertebral endplate changes def: "An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1 and T2-weighted sequences. Modif type III signals are thought to correspond to subchondral sclerosis seen on plain radiographs." [HPO:probinson, PMID:24162519] synonym: "Modic type 3 vertebral endplate changes" EXACT [] xref: UMLS:C4280775 is_a: HP:0030775 ! Modic type vertebral endplate changes [Term] id: HP:0030779 name: Ethmocephaly def: "Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears." [PMID:23248551, UToronto:chum] xref: SNOMEDCT_US:55709000 xref: UMLS:C0266680 is_a: HP:0001360 ! Holoprosencephaly [Term] id: HP:0030780 name: Abnormality of the protein C anticoagulant pathway def: "An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC." [HPO:probinson, PMID:12970121, PMID:15943976] xref: UMLS:C4280774 is_a: HP:0003256 ! Abnormality of the coagulation cascade [Term] id: HP:0030781 name: Increased circulating free fatty acid level def: "A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues." [HPO:probinson] xref: UMLS:C4280773 is_a: HP:0040300 ! Abnormal circulating free fatty acid concentration [Term] id: HP:0030782 name: Abnormal serum interleukin level def: "An abnormal amount of any of the interleukins, a class of cytokines, in the circulation." [HPO:probinson, PMID:28487810] synonym: "Abnormal serum IL level" EXACT HP:0045077 [] xref: UMLS:C4280772 is_a: HP:0011112 ! Abnormality of serum cytokine level [Term] id: HP:0030783 name: Increased serum interleukin-6 def: "An increased concentration of interleukin-6 in the circulation." [HPO:probinson, PMID:9883970] synonym: "Increased serum IL-6" EXACT HP:0045077 [] xref: UMLS:C4280771 is_a: HP:0030782 ! Abnormal serum interleukin level [Term] id: HP:0030784 name: Anomia def: "An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name." [HPO:probinson, PMID:18348092] synonym: "Amnesic aphasia" EXACT [] synonym: "Amnestic aphasia" EXACT [] synonym: "Anomic aphasia" EXACT [] synonym: "Nominal aphasia" EXACT [] xref: MSH:D000849 xref: SNOMEDCT_US:10325006 xref: UMLS:C0003113 is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0030785 name: Mediastinal cystic lymphangioma def: "A lymphangioma (congenital malformation consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures) located within the mediastinum, i.e., the central compartment of the thoracic cavity that is surrounded by loose connective tissue. Mediastinal lymphangioma is a slow growing mass with benign features, and accounts for 1% of all mediastinal tumors." [PMID:25821300, UToronto:chum] synonym: "Intrathoracic cystic hygroma" EXACT [] synonym: "Thoracic cystic lymphangioma" EXACT [] xref: UMLS:C4280770 is_a: HP:0100764 ! Lymphangioma [Term] id: HP:0030786 name: Photopsia def: "Perceived flashes of light." [HPO:probinson, PMID:10506812] comment: Photopsia may be associated with (1) posterior vitreous detachment, (2) migraine with aura, (3) migraine aura without headache, and (4) retinal break or detachment. xref: SNOMEDCT_US:56170001 xref: UMLS:C0085635 is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0030787 name: Cerumen abnormality def: "Any anomaly of the cerumen (ear wax), the yellowish waxy substance secreted in the ear canal." [HPO:probinson] xref: UMLS:C4280769 is_a: HP:0000372 ! Abnormality of the auditory canal [Term] id: HP:0030788 name: Impacted cerumen def: "Blockage of the external auditory canal by a buildup of earwax." [HPO:probinson, PMID:15256605] xref: SNOMEDCT_US:18070006 xref: UMLS:C0021092 is_a: HP:0030787 ! Cerumen abnormality [Term] id: HP:0030789 name: Excessive cerumen def: "An increased quantity of earwax." [PMID:probinson] comment: This feature is not necessarily associated with impacted cerumen, which if present should be coded separately. xref: UMLS:C1382811 is_a: HP:0030787 ! Cerumen abnormality [Term] id: HP:0030790 name: Abnormal cerumen color def: "An anomolous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color." [HPO:probinson] synonym: "Abnormal cerumen colour" EXACT [] synonym: "Abnormal cerumen pigmentation" EXACT [] xref: UMLS:C4280768 is_a: HP:0030787 ! Cerumen abnormality [Term] id: HP:0030791 name: Abnormal jaw morphology def: "A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla." [HPO:probinson] xref: UMLS:C4280767 is_a: HP:0011821 ! Abnormality of facial skeleton [Term] id: HP:0030792 name: Jaw neoplasm def: "A tumor originating in the jaw (mandible or maxilla)." [HPO:probinson] xref: MSH:D007573 xref: SNOMEDCT_US:126634001 xref: UMLS:C0022364 is_a: HP:0012289 ! Facial neoplasm is_a: HP:0030791 ! Abnormal jaw morphology [Term] id: HP:0030793 name: Jaw swelling def: "Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible)." [HPO:probinson] xref: UMLS:C4280766 is_a: HP:0030791 ! Abnormal jaw morphology [Term] id: HP:0030794 name: Abnormal C-peptide level def: "An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion." [HPO:probinson, PMID:15198367] synonym: "Abnormal C peptide level" EXACT [] xref: UMLS:C4280765 is_a: HP:0010876 ! Abnormal circulating protein level [Term] id: HP:0030795 name: Reduced C-peptide level def: "A decreased concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion." [HPO:probinson] synonym: "Reduced C peptide level" EXACT [] xref: UMLS:C4280764 is_a: HP:0030794 ! Abnormal C-peptide level [Term] id: HP:0030796 name: Increased C-peptide level def: "An elevated concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion." [HPO:probinson] comment: C-peptide, which is composed of 31 amino acids, is released from the pancreatic beta-cells following cleavage of insulin from proinsulin. C-peptide levels are generally measured after an overnight fast. synonym: "Increased C peptide level" EXACT [] xref: UMLS:C4280763 is_a: HP:0030794 ! Abnormal C-peptide level [Term] id: HP:0030797 name: Reduced volume of central subdivision of bed nucleus of stria terminalis def: "A diminished volume of the central part of the bed nucleus of the stria terminalis." [HPO:probinson, PMID:7477289] comment: This structure is larger in men than in females. xref: UMLS:C4280762 is_a: HP:0030798 ! Abnormality of the bed nucleus of stria terminalis [Term] id: HP:0030798 name: Abnormality of the bed nucleus of stria terminalis def: "The stria terminalis is a slender, compact fiber bundle that connects the amygdala (amygdaloid body) with the hypothalamus and other basal forebrain regions. The bed nucleus of the stria terminalis is a limbic forebrain structure that receives heavy projections from, among other areas, the basolateral amygdala, and projects in turn to hypothalamic and brainstem target areas that mediate many of the autonomic and behavioral responses to aversive or threatening stimuli. This term refers to an anomaly of the bed nucleus." [HPO:probinson, PMID:12600711] xref: UMLS:C4280761 is_a: HP:0002500 ! Abnormality of the cerebral white matter [Term] id: HP:0030799 name: Scaphocephaly def: "Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis." [HPO:probinson, PMID:16156241, PMID:23960302] comment: Dolichocephaly is a term in wide use to describe any long narrow head, with a cephalic index usually below 75%. Scaphocephaly, derived from the Greek skaphe (a light boat or skiff), describes a specific variety of a long narrow head that resembles an inverted\nboat with a keel. Scaphocephaly thus refers to an inverted keellike appearance to the skull, with the widest part of the skull in the temporal rather than parietal area and with palpable ridging over part or all of the sagittal suture (PMID:16156241). xref: MSH:D003398 xref: SNOMEDCT_US:4191007 xref: UMLS:C0265534 is_a: HP:0000268 ! Dolichocephaly [Term] id: HP:0030800 name: Abnormal visual accommodation def: "An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power." [HPO:probinson] xref: UMLS:C4280760 is_a: HP:0012373 ! Abnormal eye physiology [Term] id: HP:0030801 name: Reduced visual accommodation def: "A decreased ability of the eye to adjust and thereby enable sharp vision of objects at different distances." [HPO:probinson] xref: UMLS:C4280759 is_a: HP:0030800 ! Abnormal visual accommodation [Term] id: HP:0030802 name: Lower eyelid retraction def: "Inferior malposition of the lower eyelid margin without eyelid eversion." [HPO:probinson, PMID:10946945] comment: This is is not to be confused with ectropion (eyelid eversion). Lower eyelid retraction presents clinically with scleral show; round, sad-looking eyes; lateral canthal tendon laxity; and symptoms of ocular irritation, including photophobia, excessive tearing, and nocturnal lagophthalmos. xref: SNOMEDCT_US:700264006 xref: UMLS:C1861656 is_a: HP:0500043 ! Eyelid retraction [Term] id: HP:0030803 name: Platonychia def: "Abnormal flat nail." [HPO:probinson] xref: UMLS:C1853986 is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0030804 name: Trachyonychia def: "Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix." [HPO:probinson, PMID:22016269, PMID:26273150] comment: The most common histopathologic findings of trachyonychia are spongiosis and exocytosis of inflammatory cells in the nail epithelia1. Although idiopathic trachyonychia may be much more common than reported, it may present with various associated skin or mucosal diseases including alopecia areata, lichen planus, psoriasis, and eczema. Trachyonychia predominantly occurs in children, although it can affect people of all ages. Trachyonychia can improve spontaneously but may have a chronic course exceeding 6 years and result in cosmetic handicaps. xref: SNOMEDCT_US:69192004 xref: UMLS:C0546956 is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0030805 name: Absent lunula def: "Lack of the lunula at the base of a nail. The lunula is the crescent-shaped whitish area of the bed of a fingernail or toenail." [HPO:probinson] synonym: "Absent lunulae" EXACT HP:0045078 [] synonym: "Lunula absent" EXACT [] synonym: "Lunulae absent" EXACT HP:0045078 [] xref: UMLS:C4280758 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0030806 name: Fast-growing nails def: "Nails whose growth is quicker than normal." [HPO:probinson] xref: UMLS:C4280757 is_a: HP:0030807 ! Abnormal nail growth [Term] id: HP:0030807 name: Abnormal nail growth def: "Nail whose growth pattern or speed deviates from normal." [HPO:probinson] xref: UMLS:C1610609 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0030808 name: Ragged cuticle def: "The cuticle (properly known as the eponychium, or the medial nail fold or the proximal nail fold), is the thickened layer of skin surrounding fingernails and toenails. Its function is to protect the area between the nail and epidermis from exposure to bacteria. This term refers to the presence of and irregular edge or outline of the cuticle." [HPO:probinson] xref: UMLS:C4280756 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0030809 name: Abnormal tongue morphology def: "Any structural anomaly of the tongue." [] xref: UMLS:C4280755 is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0030810 name: Abnormal tongue physiology def: "Any functional anomaly of the tongue." [] xref: UMLS:C4280754 is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0030811 name: Tongue pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the tongue." [HPO:probinson] synonym: "Painful tongue" EXACT [] xref: MSH:D005926 xref: SNOMEDCT_US:30731004 xref: UMLS:C0017672 is_a: HP:0012531 ! Pain is_a: HP:0030810 ! Abnormal tongue physiology [Term] id: HP:0030812 name: Enlarged tonsils def: "Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat." [HPO:probinson] synonym: "Enlargment of tonsils" EXACT [] synonym: "Tonsillar hypertrophy" EXACT [] synonym: "tonsils large/hypertrophy" EXACT [] xref: SNOMEDCT_US:46689006 xref: UMLS:C0272386 is_a: HP:0100765 ! Abnormality of the tonsils [Term] id: HP:0030813 name: Absent tonsils def: "Lack of observable tonsillar tissue." [HPO:probinson] synonym: "Hypoplastic tonsils" EXACT [] synonym: "Tonsillar hypoplasia" EXACT [] xref: SNOMEDCT_US:249393008 xref: SNOMEDCT_US:300277007 xref: UMLS:C0576999 is_a: HP:0100765 ! Abnormality of the tonsils [Term] id: HP:0030814 name: Orange discoloured tonsils def: "A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903." [HPO:probinson, PMID:19470903] synonym: "Orange colored tonsils" EXACT [] synonym: "Orange coloured tonsils" EXACT [] synonym: "Orange discoloured tonsils" EXACT HP:0045076 [] synonym: "Orange tonsils" EXACT [] synonym: "Tonsils with orange deposits" EXACT [] xref: UMLS:C4280753 is_a: HP:0100765 ! Abnormality of the tonsils [Term] id: HP:0030815 name: Lipoma of the tongue def: "A lipoma localized to the tongue. May present as a nontender, soft, spherical mass of the tongue." [HPO:probinson] synonym: "Tongue lipoma" EXACT [] xref: UMLS:C0238467 is_a: HP:0012032 ! Lipoma is_a: HP:0100648 ! Neoplasm of the tongue [Term] id: HP:0030816 name: Gingival recession def: "The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth." [] synonym: "Gum recession" EXACT [] synonym: "Receding gums" EXACT [] xref: MSH:D005889 xref: SNOMEDCT_US:4356008 xref: UMLS:C0017572 is_a: HP:0000168 ! Abnormality of the gingiva [Term] id: HP:0030817 name: Beaked nails def: "Severe nail curvature, causing the tip of the nail to point downwards with respect to the axis of the finger. Beaked nails are caused by resorption of the distal digit." [HPO:probinson] comment: Beaked nails may be observed with conditions including hyperparathyroidism, renal failure, psoriasis, and systemic sclerosis. xref: UMLS:C4280752 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0030818 name: Central nail canal def: "The presense of a depressed line (\"canal\") in the center of the nail." [] comment: Central nail canal may be observed with conditions including severe arterial disease, severe malnutrition, and repetitive trauma. Heller's fir tree deformity refers to a central canal with a fir tree appearanceand may occur with peripheral artery disease. synonym: "Median nail dystrophy" EXACT [] xref: SNOMEDCT_US:238718006 xref: SNOMEDCT_US:86393005 xref: UMLS:C0263526 is_a: HP:0008404 ! Nail dystrophy [Term] id: HP:0030819 name: Ski jump nail def: "Nails that slope upward at the free edge." [HPO:probinson] synonym: "Upslanting nail" EXACT [] synonym: "Upward angulation of nail" EXACT [] xref: UMLS:C4280751 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0030820 name: Hooded eyelid def: "Eyelid partly covered by skin when eyes are open." [HPO:probinson] xref: UMLS:C3277348 is_a: HP:0000492 ! Abnormal eyelid morphology [Term] id: HP:0030821 name: Hooded lower eyelid def: "Lower eyelid partly covered by skin when eyes are open." [] xref: UMLS:C4280750 is_a: HP:0030820 ! Hooded eyelid [Term] id: HP:0030822 name: Hooded upper eyelid def: "Upper eyelid partly covered by skin when eyes are open." [] xref: UMLS:C4280749 is_a: HP:0030820 ! Hooded eyelid [Term] id: HP:0030823 name: Scleral thickening def: "Increased dimension of the sclera in the anterior-posterior axis." [HPO:probinson] synonym: "Thick sclera" EXACT [] xref: UMLS:C2674403 is_a: HP:0000591 ! Abnormal sclera morphology [Term] id: HP:0030824 name: Mizuo phenomenon def: "Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14]." [HPO:probinson] synonym: "Mizuo-Nakamura phenomenon" EXACT [] xref: UMLS:C4280748 is_a: HP:0001098 ! Abnormal fundus morphology [Term] id: HP:0030825 name: Absent foveal reflex def: "Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope." [HPO:probinson, PMID:27491360] comment: Absence of the foveal reflex can occur with macular edema, central serous retinopathy, or other macular abnormalities such as macular dystrophy. The macular reflex is often less pronounced in adults than in children, and may be absent in otherwise normal eyes of older individuals. synonym: "Foveal reflex absent" EXACT [] synonym: "Loss of foveal reflex" EXACT [] xref: SNOMEDCT_US:247144003 xref: UMLS:C0423420 is_a: HP:0000493 ! Abnormal foveal morphology [Term] id: HP:0030826 name: Eyelid fasciculation def: "Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching." [HPO:probinson] synonym: "Eyelid fluttering" EXACT [] synonym: "Fasciculation of the eyelid" EXACT [] synonym: "Muscle twitches in eye lid" EXACT layperson [] synonym: "Muscle twitches in eyelid" EXACT layperson [] synonym: "Twitching around eyes" EXACT layperson [] xref: UMLS:C4280682 is_a: HP:0031785 ! Abnormal eyelid movement [Term] id: HP:0030828 name: Wheezing def: "A high-pitched whistling sound associated with labored breathing." [HPO:probinson, PMID:26229557] comment: Wheezes and rhonchi are continuous musical lung sounds. The American Thoracic Society (ATS) Committee on pulmonary nomenclature defines wheezes as high-pitched continuous sounds with a dominant frequency of 400 Hz or more, and rhonchi as low-pitched continuous musical sounds with a dominant frequency of about 200 Hz or less synonym: "Wheezing" EXACT layperson [] xref: MSH:D012135 xref: SNOMEDCT_US:56018004 xref: UMLS:C0043144 is_a: HP:0030829 ! Abnormal breath sound [Term] id: HP:0030829 name: Abnormal breath sound def: "An anomalous (adventitious) sound produced by the breathing process." [HPO:probinson] xref: SNOMEDCT_US:301273002 xref: UMLS:C0231856 is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0030830 name: Crackles def: "Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position." [PMID:26229557, UToronto:chum] comment: Rales are fine, discontinuous crackles that can sound like cellophane being crumpled or velcro being pulled apart. They may be heard with a stethoscope when listening over lungs containing more than the normal amount of fluid secretiions. synonym: "Crepitations" EXACT [] synonym: "Rales" EXACT [] xref: MSH:D012135 xref: SNOMEDCT_US:48409008 xref: UMLS:C0034642 is_a: HP:0030829 ! Abnormal breath sound [Term] id: HP:0030831 name: Rhonchi def: "Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds." [PMID:26229557, UToronto:chum] comment: Wheezes and rhonchi are continuous musical lung sounds. The American Thoracic Society (ATS) Committee on pulmonary nomenclature defines wheezes as high-pitched continuous sounds with a dominant frequency of 400 Hz or more, and rhonchi as low-pitched continuous musical sounds with a dominant frequency of about 200 Hz or less. xref: MSH:D012135 xref: SNOMEDCT_US:24612001 xref: UMLS:C0035508 is_a: HP:0030829 ! Abnormal breath sound [Term] id: HP:0030832 name: Vitreous strands def: "Fiber- or rope-like opacities located within the vitreous humor." [] xref: SNOMEDCT_US:28167005 xref: UMLS:C0271408 is_a: HP:0100832 ! Vitreous floaters [Term] id: HP:0030833 name: Neck pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck." [UToronto:chum] synonym: "Neck pain" EXACT layperson [] xref: MSH:D019547 xref: SNOMEDCT_US:81680005 xref: UMLS:C0007859 is_a: HP:0012531 ! Pain [Term] id: HP:0030834 name: Shoulder pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder." [UToronto:chum] synonym: "Shoulder pain" EXACT layperson [] xref: MSH:D020069 xref: SNOMEDCT_US:45326000 xref: UMLS:C0037011 is_a: HP:0012531 ! Pain [Term] id: HP:0030835 name: Elbow pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the elbow." [UToronto:chum] synonym: "Elbow pain" EXACT layperson [] xref: SNOMEDCT_US:74323005 xref: UMLS:C0239266 is_a: HP:0012531 ! Pain [Term] id: HP:0030836 name: Wrist pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist." [UToronto:chum] synonym: "Wrist pain" EXACT layperson [] xref: SNOMEDCT_US:202482009 xref: SNOMEDCT_US:56608008 xref: UMLS:C0221785 is_a: HP:0012531 ! Pain [Term] id: HP:0030837 name: Finger pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the finger." [UToronto:chum] synonym: "Finger pain" EXACT layperson [] xref: SNOMEDCT_US:18876004 xref: UMLS:C0239589 is_a: HP:0012531 ! Pain [Term] id: HP:0030838 name: Hip pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip." [UToronto:chum] synonym: "Hip pain" EXACT layperson [] xref: SNOMEDCT_US:49218002 xref: UMLS:C0019559 is_a: HP:0012531 ! Pain [Term] id: HP:0030839 name: Knee pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee." [UToronto:chum] synonym: "Knee pain" EXACT layperson [] synonym: "Pain under knee cap" BROAD layperson [] xref: SNOMEDCT_US:30989003 xref: UMLS:C0231749 is_a: HP:0012531 ! Pain [Term] id: HP:0030840 name: Ankle pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle." [] synonym: "Ankle pain" EXACT layperson [] xref: SNOMEDCT_US:202490009 xref: SNOMEDCT_US:247373008 xref: UMLS:C0238656 is_a: HP:0012531 ! Pain [Term] id: HP:0030841 name: Toe pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the toe." [UToronto:chum] synonym: "Toe pain" EXACT layperson [] xref: SNOMEDCT_US:285365001 xref: UMLS:C0241416 is_a: HP:0012531 ! Pain [Term] id: HP:0030842 name: Choking episodes def: "Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing." [HPO:probinson] xref: UMLS:C4280747 is_a: HP:0100738 ! Abnormal eating behavior [Term] id: HP:0030843 name: Cardiac amyloidosis alt_id: HP:0200126 def: "Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding." [HPO:probinson, PMID:16186440] comment: The diagnosis of amyloidosis requires histological identification of amyloid deposits. Congo Red staining renders amyloid deposits salmon pink by light microscopy, with a characteristic apple green birefringence under polarized light conditions. Additional immunohistochemical staining for precursor proteins identifies the type of amyloidosis. synonym: "Amyloid cardiomyopathy" EXACT [] xref: SNOMEDCT_US:16573007 xref: UMLS:C0268407 is_a: HP:0001637 ! Abnormal myocardium morphology is_a: HP:0011034 ! Amyloidosis [Term] id: HP:0030844 name: Undetectable pattern electroretinogram def: "Absent response to a pattern electroretinogram (PERG)." [HPO:probinson] xref: UMLS:C4280746 is_a: HP:0030467 ! Abnormal pattern electroretinogram [Term] id: HP:0030845 name: Heliotrope rash of eyelid def: "Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema." [HPO:probinson, PMID:12786876, PMID:25587479] comment: Purple eyelids, which are described as heliotrope, as they resemble the heliotrope flower, e.g., Heliotropium peruvianum, which has small purple petals. Heliotrope rash is one of the characteristic skin manifestations of juvenile dermatomyositis. It is a reddish-purple rash on the upper eyelids that is usually bilateral. xref: UMLS:C4280745 is_a: HP:0000492 ! Abnormal eyelid morphology is_a: HP:0040324 ! Heliotrope rash [Term] id: HP:0030846 name: Abnormality of venous physiology def: "An anomaly of venous function." [HPO:probinson] xref: UMLS:C4280744 is_a: HP:0030163 ! Abnormal vascular physiology [Term] id: HP:0030847 name: Abnormal jugular venous pressure def: "An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure." [HPO:probinson, PMID:24085809] xref: SNOMEDCT_US:62436006 xref: UMLS:C0520860 is_a: HP:0030846 ! Abnormality of venous physiology [Term] id: HP:0030848 name: Elevated jugular venous pressure def: "Increased jugular venous pressure." [] xref: SNOMEDCT_US:22447003 xref: UMLS:C0520861 is_a: HP:0030847 ! Abnormal jugular venous pressure [Term] id: HP:0030849 name: Hepatojugular reflux def: "The examiner applies firm but persistent pressure over the liver for 10 seconds while observing the mean jugular venous pressure. Normally there is either no rise or only a transient (i.e., 2 to 3 sec) rise in mean jugular venous pressure. A sustained increase in the mean venous pressure until abdominal compression is released is abnormal and indicates impaired right heart function. This abnormal response is called hepatojugular reflux." [HPO:probinson, PMID:24085809] xref: SNOMEDCT_US:72196001 xref: UMLS:C0239949 is_a: HP:0030847 ! Abnormal jugular venous pressure [Term] id: HP:0030850 name: Abnormal pulse pressure def: "An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure." [HPO:probinson] xref: UMLS:C0855322 is_a: HP:0030163 ! Abnormal vascular physiology [Term] id: HP:0030851 name: Low pulse pressure def: "Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure)." [HPO:probinson] xref: UMLS:C4280743 is_a: HP:0030850 ! Abnormal pulse pressure [Term] id: HP:0030852 name: High pulse pressure def: "Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure)." [HPO:probinson] xref: UMLS:C0855323 is_a: HP:0030850 ! Abnormal pulse pressure [Term] id: HP:0030853 name: Heterotaxy def: "An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body." [HPO:probinson, PMID:21731561] comment: In the normal body, the internal organs are arranged in different patterns on the right and left sides, and are not mirror images of each other. Hence, if asymmetry of the thoracic and abdominal organs is the usual or normal situation, the syndrome of visceral heterotaxy includes patients with an unusual degree of symmetry of some of the thoracic and abdominal organs, and the atrial appendages within the heart. synonym: "Heterotaxia" EXACT [] xref: Fyler:0190 xref: Fyler:190 xref: MSH:D059446 xref: SNOMEDCT_US:14821001 xref: SNOMEDCT_US:24614000 xref: UMLS:C0266642 is_a: HP:0001507 ! Growth abnormality [Term] id: HP:0030854 name: Scleral staphyloma def: "A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure." [HPO:probinson, PMID:22454726] comment: Most staphylomas occur in the posterior pole, usually due to pathological or degenerative myopia. Anterior staphylomas are less frequent. They generally occur after longstanding mistreated or untreated infections in a previously healthy eye and are commonly associated with fungal corneal ulcers. In other cases, they may follow chronic inflammatory diseases such as necrotizing scleritis. synonym: "Staphyloma" EXACT [] xref: SNOMEDCT_US:111534007 xref: UMLS:C0155359 is_a: HP:0000591 ! Abnormal sclera morphology [Term] id: HP:0030855 name: Anterior staphyloma def: "A localized defect in the anterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure." [HPO:probinson, PMID:24600153] xref: SNOMEDCT_US:231888000 xref: UMLS:C0339206 is_a: HP:0030854 ! Scleral staphyloma [Term] id: HP:0030856 name: Posterior staphyloma def: "A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure." [HPO:probinson, PMID:25376120] xref: SNOMEDCT_US:87819007 xref: UMLS:C0155360 is_a: HP:0030854 ! Scleral staphyloma [Term] id: HP:0030857 name: Eye movement-induced pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding." [HPO:probinson, PMID:12928305] xref: UMLS:C4280742 is_a: HP:0200026 ! Ocular pain [Term] id: HP:0030858 name: Addictive behavior def: "A recurrent pattern of behavior that is characeterized by the failure to resist an impulse, drive, or temptation to perform an act that is harmful to the person or to others. The repetitive engagement in these behaviors ultimately interferes with functioning in other domains." [HPO:probinson, PMID:20560821] comment: Several behaviors, besides psychoactive substance ingestion, produce short-term reward that may engender persistent behavior despite knowledge of adverse consequences, i.e., diminished control over the behavior. xref: MSH:D016739 xref: SNOMEDCT_US:32709003 xref: UMLS:C0085281 is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0030859 name: Topoisomerase I antibody positivity def: "The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I." [PMID:16112028] synonym: "Top1 antibody positivity" EXACT [] synonym: "Topoisomerase (DNA) I antibody positivity" EXACT [] xref: UMLS:C4280741 is_a: HP:0030057 ! Autoimmune antibody positivity [Term] id: HP:0030860 name: Abnormal CSF amyloid level def: "Abnormal concentration of amyloid in the cerebrospinal fluid (CSF)." [] comment: In Alzheimer disease, histopathology typically reveals extracellular accumulations of amyloid beta (Abeta) in senile plaques and intracellular neurofibrillary tangles of hyperphosphorylated tau (P-tau). A[beta]42 is the 42 amino acid isoform of amyloid beta. Using positron emission tomography several studies found an inverse correlation between brain amyloid load and CSF A[beta]42. synonym: "Abnormal CSF A[beta]42 level" EXACT HP:0045077 [] xref: UMLS:C4280740 is_a: HP:0025456 ! Abnormal CSF protein level [Term] id: HP:0030861 name: Decreased CSF amyloid level def: "Reduced concentration of amyloid in the cerebrospinal fluid (CSF)." [] xref: UMLS:C4280739 is_a: HP:0030860 ! Abnormal CSF amyloid level [Term] id: HP:0030862 name: Elevated CSF amyloid level def: "Increased concentration of amyloid in the cerebrospinal fluid (CSF)." [] xref: UMLS:C4280738 is_a: HP:0030860 ! Abnormal CSF amyloid level [Term] id: HP:0030863 name: Nasal flaring def: "Widening of the nostrils upon inhalation as a manifestation of respiratory distress." [PMID:25274969, UToronto:chum] comment: Nasal flaring is a compensatory symptom that increases upper airway diameter and reduces resistance and work of breathing. xref: SNOMEDCT_US:21558008 xref: SNOMEDCT_US:248568003 xref: UMLS:C0277873 is_a: HP:0002098 ! Respiratory distress [Term] id: HP:0030864 name: Intercostal retractions def: "A pulling inward of the soft tissues between the ribs upon inhalation. This is a sign of increased use of the chest muscles for breathing and is a manifestation of respiratory distress." [PMID:25274969] synonym: "Chest retractions" EXACT [] xref: SNOMEDCT_US:6442005 xref: UMLS:C0425470 is_a: HP:0002098 ! Respiratory distress [Term] id: HP:0030865 name: Large elbow def: "Abnormal increased size of the elbow joint." [HPO:probinson] synonym: "Prominent elbow" EXACT [] xref: UMLS:C4280737 is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0030866 name: Large knee def: "Abnormally increased size of the knee joint." [HPO:probinson] xref: UMLS:C4280736 is_a: HP:0002815 ! Abnormality of the knee [Term] id: HP:0030867 name: Vertical orbital dystopia def: "The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other." [HPO:probinson, PMID:7795293] synonym: "Eyes at different heights" EXACT layperson [] synonym: "Misaligned eyes" EXACT layperson [] synonym: "Unequal eye height" EXACT layperson [] xref: SNOMEDCT_US:253243008 xref: UMLS:C0431460 is_a: HP:0100886 ! Abnormality of globe location [Term] id: HP:0030868 name: Monorchism def: "Having only one testis in the scrotum." [HPO:probinson] synonym: "Monorchidism" EXACT [] xref: SNOMEDCT_US:87310001 xref: UMLS:C0266429 is_a: HP:0000035 ! Abnormal testis morphology [Term] id: HP:0030869 name: Anorchism def: "An abnormality of XY sexual development characterized by the absence of both testes at birth." [HPO:probinson] xref: MSH:C537770 xref: SNOMEDCT_US:371015003 xref: UMLS:C1261504 is_a: HP:0000035 ! Abnormal testis morphology [Term] id: HP:0030870 name: Abnormality of spinal facet joint def: "An anomaly of the small joints located between and behind adjacent vertebrae." [HPO:probinson] comment: The spinal facet joints represent a set of synovial, plane joints between the articular processes of each two adjacent vertebrae. Each pair of facet joints functions to guide and limit the movement of the corresponding spinal motion segment. synonym: "Abnormality of apophyseal joint" EXACT [] synonym: "Abnormality of Z-joint" EXACT [] synonym: "Abnormality of zygapophyseal joint" EXACT [] synonym: "Abnormality of zygapophysial joint" EXACT [] xref: UMLS:C4280735 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0030871 name: Facet joint arthrosis def: "Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray." [HPO:probinson] comment: Facet joint osteoarthritis (FJ OA) is intimately linked to degenerative disc disease, which affects structures in the anterior aspect of the vertebral column. FJ OA and degenerative disc disease are both common causes of back and neck pain. synonym: "Facet arthritis" EXACT [] xref: UMLS:C4280734 is_a: HP:0030870 ! Abnormality of spinal facet joint [Term] id: HP:0030872 name: Abnormal cardiac ventricular function def: "An abnormality of the cardiac ventricular function." [NIHR:ldaugherty] xref: UMLS:C4280733 is_a: HP:0011025 ! Abnormal cardiovascular system physiology [Term] id: HP:0030873 name: Anticentromere antibody positivity def: "The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components." [PMID:17444587] synonym: "ACA positivity" EXACT [] synonym: "Anti-centromere antibody positivity" EXACT [] xref: UMLS:C4280732 is_a: HP:0030057 ! Autoimmune antibody positivity [Term] id: HP:0030874 name: Oxygen desaturation on exertion def: "Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa." [NIHR:ldaugherty, PMID:24121092] synonym: "O2 desaturation on exertion" EXACT HP:0045077 [] xref: UMLS:C4280731 is_a: HP:0012418 ! Hypoxemia [Term] id: HP:0030875 name: Abnormality of pulmonary circulation def: "A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart." [HPO:probinson] synonym: "Abnormal pulmonary circulation" EXACT [] synonym: "Abnormality of respiratory circulation" EXACT [] xref: UMLS:C4280730 is_a: HP:0002795 ! Functional respiratory abnormality is_a: HP:0030163 ! Abnormal vascular physiology [Term] id: HP:0030876 name: Increased pulmonary capillary wedge pressure def: "Pulmonary capillary wedge pressure (PCWP) above 15mmHg." [NIHR:ldaugherty] comment: The pulmonary capillary wedge pressure refers to the pressure measured by wedging a pulmonary catheter with an inflated balloon into a small pulmonary arterial branch. synonym: "Increased pulmonary arterial wedge pressure" EXACT [] synonym: "Increased pulmonary artery occlusion pressure" EXACT [] xref: SNOMEDCT_US:30261008 xref: UMLS:C0520850 is_a: HP:0030875 ! Abnormality of pulmonary circulation [Term] id: HP:0030877 name: Reduced FEV1/FVC ratio def: "Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity)." [NIHR:ldaugherty, PMID:22347750, PMID:24695507] comment: A low FEV1/FVC ratio indicates an obstructive defect. There are several cutoffs in the literature. The first option is to follow the GOLD criteria, which use a cutoff of less than 70 percent. For patients five to 18 years of age, the National Asthma Education and Prevention Program guideline says that a ratio of less than 85 percent is consistent with an obstructive defect as long as the patient has symptoms consistent with obstructive lung disease. The second option is to follow the ATS criteria, which use the lower limit of normal (LLN) as the cutoff for adults. The LLN is a measurement less than the fifth percentile of spirometry data obtained from the Third National Health and Nutrition Examination Survey (NHANES III). synonym: "Obstructive deficit on pulmonary function test" EXACT [] synonym: "Obstructive deficit on pulmonary function testing" EXACT [] xref: UMLS:C4280729 is_a: HP:0006536 ! Obstructive lung disease is_a: HP:0032340 ! Abnormal spirometry test [Term] id: HP:0030878 name: Abnormality on pulmonary function testing def: "Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography." [HPO:probinson] synonym: "Abnormal pulmonary function test" EXACT [] xref: UMLS:C4280728 is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0030879 name: Interlobular septal thickening on pulmonary HRCT def: "Presence of thickening of the interlobular septa of the lungs as seen on a CT scan." [NIHR:ldaugherty, PMID:23247773] comment: Interlobular septa are 10-20nm long structures at the border of the secondary pulmonary lobules and which are usually perpendicular to the pleura in the periphery of the lung. Interlobular septa are composed of connective tisues and contain pulmonary venules and lymphatics. Diseases that affect one of the components of the interlobular septa may lead to thickeninig of the septa, which makes the visible on computed tomography (CT) scans. Some of the diseases that may be associated with this phenotypic feature are pulmonary edema, pulmonary lymphangitis carcinomatosis, leukemic or lymphomic involvement of the lung, diffuse alveolar hemorrhage, Nieman-Pick disease, and pneumonia. The terms septal lines or septal thickening may also be used to describe interlobular septal thickening. Earlier descriptions include the terms peripheral lines, short lines, and interlobular lines. xref: UMLS:C4280727 is_a: HP:0025389 ! Pulmonary interstitial high-resolution computed tomography abnormality [Term] id: HP:0030880 name: Raynaud phenomenon comment: Excessively reduced blood flow in response to cold or emotional stress, causing discolouration of the fingers, toes. {xref="NIHR:ldaugherty"} synonym: "Raynaud disease" RELATED [] synonym: "Raynaud's phenomenon" EXACT [] xref: MSH:D011928 xref: SNOMEDCT_US:266261006 xref: UMLS:C0034735 is_a: HP:0025323 ! Abnormal arterial physiology [Term] id: HP:0030881 name: Shoulder impingement def: "Trapping and compression of the rotator cuff tendons during shoulder movements." [HPO:probinson] comment: Shoulder impingment can cause the rotator cuff tendon to become inflamed and swollen (rotator cuff tendonitis). Similarly, shoulder impingement can cause the bursa to become inflamed (shoulder bursitis). xref: UMLS:C1655733 is_a: HP:0003043 ! Abnormality of the shoulder [Term] id: HP:0030882 name: Coronary artery aneurysm def: "Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel." [HPO:probinson, PMID:28374180] synonym: "Coronary arterial dilatation" EXACT [] synonym: "Coronary artery dilatation" EXACT [] synonym: "Coronary artery ectasia" EXACT [] xref: Fyler:3129 xref: UMLS:C4255100 is_a: HP:0006704 ! Abnormal coronary artery morphology [Term] id: HP:0030883 name: Femoroacetabular Impingement def: "Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis." [PMID:22108232] synonym: "Femoral acetabular impingement" EXACT [] xref: MSH:D057925 xref: SNOMEDCT_US:432473000 xref: UMLS:C2936290 is_a: HP:0001384 ! Abnormality of the hip joint [Term] id: HP:0030884 name: Gastrojejunal tube feeding in infancy def: "Feeding problem necessitating gastrojejunal tube feeding." [PMID:11827911] comment: The rationale for gastrojejunal tube feeding is that placing the tip of the tube beyond the ligament of Treitz prevented duodenogastric reflux or gastro-esophageal reflux. Gastrojejunal feeding tubes have since been used in children who are deemed too unfit for antireflux surgery or where fundoplication has failed. synonym: "Gastro-jejunal tube feeding in infancy" EXACT [] xref: UMLS:C4280681 is_a: HP:0008872 ! Feeding difficulties in infancy [Term] id: HP:0030885 name: Recurrent parasitic infections def: "Increased susceptibility to parasitic infections, as manifested by recurrent episodes of parasitic infection." [HPO:probinson] xref: UMLS:C4280726 is_a: HP:0002719 ! Recurrent infections is_a: HP:0020108 ! Unusual parasitic infection [Term] id: HP:0030886 name: Abnormal lymphocyte apoptosis def: "A anomaly in the rate of apoptosis in lymphocytes." [HPO:probinson] xref: UMLS:C4280725 is_a: HP:0031409 ! Abnormal lymphocyte physiology [Term] id: HP:0030887 name: Increased lymphocyte apoptosis def: "A elevation in the rate of apoptosis in lymphocytes." [] xref: UMLS:C4280724 is_a: HP:0030886 ! Abnormal lymphocyte apoptosis [Term] id: HP:0030888 name: C3 nephritic factor positivity def: "The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb)." [] is_a: HP:0030057 ! Autoimmune antibody positivity [Term] id: HP:0030889 name: Congenital shortened small intestine def: "Substantially shortened length of the small intestine as a result of a developmental defect." [PMID:18209785] comment: The mean length of the small intestine in full-term newborns is approximately 240 cm, increasing to 430 cm by 15 years of age. In adults, the average small bowel length is reported to be 600 cm, with a range of 260 cm to 800 cm. Short bowel syndrome (SBS) is a clinical disorder that is characterized by diarrhea and malabsorption following the functional or anatomical loss of enough small bowel length to markedly compromise intestinal absorptive capacity. SBS may result from from surgical resection, congenital defect, or disease-associated loss of absorption. This term describes congenital shortening of the small intestine that is one phenotypic feature of SBS. synonym: "Short bowel" RELATED [] is_a: HP:0002244 ! Abnormality of the small intestine [Term] id: HP:0030890 name: Hyperintensity of cerebral white matter on MRI def: "A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter." [PMID:15576652] synonym: "White matter hyperintensity" EXACT [] is_a: HP:0002500 ! Abnormality of the cerebral white matter created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0030891 name: Periventricular white matter hyperdensities def: "Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles." [PMID:15576652] comment: See also defintion for "Deep cerebral white matter hyperdensities". These two entities are in contra-distinction to each other. synonym: "Periventricular cerebral white matter hyperdensities" EXACT [] synonym: "Periventricular white matter hyperintensities" EXACT [] synonym: "PVWMH" EXACT HP:0045077 [] is_a: HP:0030890 ! Hyperintensity of cerebral white matter on MRI created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0030892 name: Deep cerebral white matter hyperdensities def: "Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system." [PMID:15576652] comment: See also defintion for "Periventricular white matter hyperdensities". These two entities are in contra-distinction to each other. synonym: "Deep white matter hyperintensities" EXACT [] synonym: "DWMH" EXACT HP:0045077 [] is_a: HP:0030890 ! Hyperintensity of cerebral white matter on MRI created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0030893 name: Abnormal response to short acting pulmonary vasodilator def: "Pulmonary vasodilator testing is performed during right-heart catheterization and involves a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. The current definition of a normal (positive) response is a drop in mean pulmonary artery pressure of at least 10 mm Hg (or 20 percent) to below 40 mm Hg." [NIHR:ldaugherty, PMID:20004088] is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0030894 name: Insufficient response to short acting pulmonary vasodilator def: "No fall in mean pulmonary arterial pressure (mPAP) falls by at least 10 mmHg to an absolute value less than 40 mmHg without a degradation in cardiac output (CO) in response to a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide." [NIHR:ldaugherty] is_a: HP:0030893 ! Abnormal response to short acting pulmonary vasodilator [Term] id: HP:0030895 name: Abnormal gastrointestinal motility def: "An anomaly of the muscular contractions that propel food though the gastrointestinal tract." [HPO:probinson] synonym: "Abnormal GI motility" EXACT HP:0045077 [] is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract [Term] id: HP:0030896 name: Abnormal gastrointestinal transit time def: "A deviation from the normal amount of time required for food to pass through the intestines." [PMID:22206545] comment: Gastrointestinal motility is usually described in terms of regional transit times or as intraluminal pressure changes. Scintigraphy is the gold standard for determination of gastric emptying and small intestinal transit synonym: "Abnormal GI transit time" EXACT HP:0045077 [] is_a: HP:0030895 ! Abnormal gastrointestinal motility [Term] id: HP:0030897 name: Decreased intestinal transit time def: "A reduction in the length of time required for food to pass through the intestines." [PMID:22206545] is_a: HP:0030896 ! Abnormal gastrointestinal transit time [Term] id: HP:0030898 name: Pruritis on abdomen def: "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the abdomen." [] is_a: HP:0000989 ! Pruritus [Term] id: HP:0030899 name: Pruritis on hand def: "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the hand." [] is_a: HP:0000989 ! Pruritus [Term] id: HP:0030900 name: Pruritus on foot def: "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the foot." [] synonym: "Itchy feet" EXACT layperson [] synonym: "Itchy foot" EXACT layperson [] is_a: HP:0000989 ! Pruritus [Term] id: HP:0030901 name: Pruritis on breast def: "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the breast." [] is_a: HP:0000989 ! Pruritus [Term] id: HP:0030902 name: Palmomental reflex def: "A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm." [HPO:probinson, PMID:12122165, PMID:21250236] comment: The palmomental reflex is often present in normal people and may be absent in disease states. Testing merely for the presence or absence of the reflex therefore lacks both specificity and sensitivity. A strong, sustained, and easily repeatable contraction of the mentalis muscle, which can be elicited by stimulation of areas other than the palm, is more likely to indicate cerebral damage. is_a: HP:0002476 ! Primitive reflex [Term] id: HP:0030903 name: Grasp reflex def: "A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient's hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner's fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner's hand with variable strength and continues to grasp as the examiner's hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395]." [HPO:probinson, PMID:12700289] synonym: "Palmar grasp reflex" EXACT [] is_a: HP:0002476 ! Primitive reflex [Term] id: HP:0030904 name: Glabellar reflex def: "A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign." [HPO:probinson] synonym: "Myerson's sign" RELATED [] is_a: HP:0002476 ! Primitive reflex [Term] id: HP:0030905 name: Snout reflex def: "A type of primitive reflex that is elicited by tapping the upper lip lightly. The contraction of the muscles causes the mouth to resemble a snout." [PMID:21250236] is_a: HP:0002476 ! Primitive reflex [Term] id: HP:0030906 name: Suck reflex def: "A type of primitive reflex that is elicited by lightly touching or tapping on the lips with an object such as a tongue blade, reflex hammer, or the examiner's finger. At times the reflex is obtained merely by approaching the lips with an object. A positive suck reflex consists of sucking movements by the lips when they are stroked or touched." [PMID:21250236] synonym: "Persistent nutritive suckle swallow" EXACT [] is_a: HP:0002476 ! Primitive reflex [Term] id: HP:0030907 name: Thunderclap headache def: "Severe head pain with sudden onset, reaching its maximum intensity in less than one minute and lasting from one hour to ten days." [] comment: The differential diagnosis of thunderclap headache (TCH) includes subarachnoid hemorrhage, ischemic stroke, cerebral venous thrombosis, cervical arterial dissection, acute hypertensive crisis, retroclival hematoma, pituitary apoplexy, and pheochromocytoma. is_a: HP:0002315 ! Headache [Term] id: HP:0030908 name: Liver kidney microsome type 1 antibody positivity def: "The presence of autoantibodies (immunoglobulins) in the serum that react against P450 2D6, a cytochrome P450 mono-oxygenase. Anti-LKM-1 antibodies are considered to be a diagnostic marker of autoimmune hepatitis type 2 (AIH2)." [] comment: LKM1 is conventionally detected by immunofluorescence (IFL), a subjective technique, using rat liver, kidney, and stomach as a composite substrate. synonym: "Anti-LKM-1 positive" EXACT [] is_a: HP:0030057 ! Autoimmune antibody positivity [Term] id: HP:0030909 name: Anti-liver cytosolic antigen type 1 antibody positivity def: "The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction." [PMID:7806169] comment: These autoantibodies may be observed in a subset of persons with autoimmune hepatitis. synonym: "Anti-liver cytosol antibody-1 positivity" EXACT [] is_a: HP:0030057 ! Autoimmune antibody positivity [Term] id: HP:0030911 name: Bifid clitoris def: "Two clitorides located side by side." [PMID:23650202] comment: The word bifid indicates the presence of a split clitoris, as opposed to a supernumerary clitoris, which could be described as Duplicated clitoris. A bifid clitoris is almost invariably accompanied by Epispadias, which should be coded separately. is_a: HP:0000056 ! Abnormality of the clitoris [Term] id: HP:0030912 name: Duplicated clitoris def: "Supernumerary clitoris." [] comment: The word bifid indicates the presence of a split clitoris, as opposed to a supernumerary clitoris, which could be described as duplicated clitoris. is_a: HP:0000056 ! Abnormality of the clitoris [Term] id: HP:0030913 name: Exaggerated rugosity of the labia majora def: "Marked rugae formation of the skin of the labia majora." [PMID:23650202] comment: Some rugae formation is typically found on the labia majora, but less than on the scrotum. synonym: "Scrotum-like labia majora" EXACT [] is_a: HP:0012881 ! Abnormality of the labia majora [Term] id: HP:0030914 name: Abnormal peristalsis def: "An anomaly of the wave-like muscle contractions of the digestive tract." [HPO:probinson] is_a: HP:0002579 ! Gastrointestinal dysmotility [Term] id: HP:0030915 name: Cerebellar edema def: "Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum." [] comment: Cerebellar edama can manifest on magnetic resonance imaging as hyperintense T2 and FLAIR signals, which do not show restricted diffusion. synonym: "Cerebellar oedema" EXACT [] synonym: "Edema of the cerebellum" EXACT [] synonym: "Oedema of the cerebellum" EXACT [] is_a: HP:0001317 ! Abnormal cerebellum morphology created_by: HPO:probinson [Term] id: HP:0030917 name: Low APGAR score comment: The APGAR score was developed by Dr. Virginia Apgar to quickly assess the status of newborn children. It is determined based on scoing five criteria (Appearance, Pulse, Grimace, Activity, Respiration) on a scale of zero to two each and summing the five values. A score of 7 and above is considered normal, 4 to 6 low, and 3 or less critically low. The 1-minute score is used to assess how well the neonate tolerated the birthing process, and the 5-minute score is used to assess how well the neonate is adapting to the postnatal environment. is_a: HP:0001197 ! Abnormality of prenatal development or birth property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:06:20Z xsd:dateTime created_by: robinp [Term] id: HP:0030918 name: Low 1-minute APGAR score comment: A normal APGAR score can be coded as 'not Low 1-minute APGAR score'. synonym: "Low one-minute APGAR score" EXACT [] is_a: HP:0030917 ! Low APGAR score property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:06:34Z xsd:dateTime created_by: robinp [Term] id: HP:0030919 name: Low 5-minute APGAR score comment: A normal APGAR score can be coded as 'not Low 5-minute APGAR score'. synonym: "Low five-minute APGAR score" EXACT [] is_a: HP:0030917 ! Low APGAR score property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:06:42Z xsd:dateTime created_by: robinp [Term] id: HP:0030920 name: 5-minute APGAR score of 0 is_a: HP:0030919 ! Low 5-minute APGAR score property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:14:18Z xsd:dateTime created_by: robinp [Term] id: HP:0030921 name: 5-minute APGAR score of 1 is_a: HP:0030919 ! Low 5-minute APGAR score property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:14:24Z xsd:dateTime created_by: robinp [Term] id: HP:0030922 name: 5-minute APGAR score of 2 is_a: HP:0030919 ! Low 5-minute APGAR score property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:14:30Z xsd:dateTime created_by: robinp [Term] id: HP:0030923 name: 5-minute APGAR score of 3 is_a: HP:0030919 ! Low 5-minute APGAR score property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:14:36Z xsd:dateTime created_by: robinp [Term] id: HP:0030924 name: 5-minute APGAR score of 4 is_a: HP:0030919 ! Low 5-minute APGAR score property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:14:43Z xsd:dateTime created_by: robinp [Term] id: HP:0030925 name: 5-minute APGAR score of 5 is_a: HP:0030919 ! Low 5-minute APGAR score property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:14:57Z xsd:dateTime created_by: robinp [Term] id: HP:0030926 name: 5-minute APGAR score of 6 is_a: HP:0030919 ! Low 5-minute APGAR score property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:15:03Z xsd:dateTime created_by: robinp [Term] id: HP:0030927 name: 1-minute APGAR score of 0 is_a: HP:0030918 ! Low 1-minute APGAR score property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:16:10Z xsd:dateTime created_by: robinp [Term] id: HP:0030928 name: 1-minute APGAR score of 1 is_a: HP:0030918 ! Low 1-minute APGAR score property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:16:15Z xsd:dateTime created_by: robinp [Term] id: HP:0030929 name: 1-minute APGAR score of 2 is_a: HP:0030918 ! Low 1-minute APGAR score property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:16:20Z xsd:dateTime created_by: robinp [Term] id: HP:0030930 name: 1-minute APGAR score of 3 is_a: HP:0030918 ! Low 1-minute APGAR score property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:16:25Z xsd:dateTime created_by: robinp [Term] id: HP:0030931 name: 1-minute APGAR score of 4 is_a: HP:0030918 ! Low 1-minute APGAR score property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:16:29Z xsd:dateTime created_by: robinp [Term] id: HP:0030932 name: 1-minute APGAR score of 5 is_a: HP:0030918 ! Low 1-minute APGAR score property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:16:35Z xsd:dateTime created_by: robinp [Term] id: HP:0030933 name: 1-minute APGAR score of 6 is_a: HP:0030918 ! Low 1-minute APGAR score property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:16:41Z xsd:dateTime created_by: robinp [Term] id: HP:0030934 name: Oral erythroplakia def: "A velvety red but not ulcerated lesion of the oral mucosa. The texture may be roughened or normal, and the lesion is neither raised nor depressed." [] comment: Oral erythroplakia may be related to local irritants and infection, candida infection. Oral erythroplakia may be dysplastic or (pre-)neoplastic. synonym: "Oral erythroplasia" EXACT [] is_a: HP:0011830 ! Abnormal oral mucosa morphology property_value: http://purl.org/dc/elements/1.1/date 2016-11-07T18:48:22Z xsd:dateTime created_by: robinp [Term] id: HP:0030935 name: Abnormality of intestinal smooth muscle morphology def: "A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine." [] is_a: HP:0002242 ! Abnormal intestine morphology property_value: http://purl.org/dc/elements/1.1/date 2016-12-02T15:17:33Z xsd:dateTime created_by: robinp [Term] id: HP:0030936 name: Abnormal layering of muscularis propria def: "Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer." [PMID:18788889, PMID:26078585] comment: The intestinal muscularis propria is organized into discrete inner circular and outer longitudinal layers of muscle fibers that are oriented perpendicular to one another, except in the appendix, where the arrangement is more haphazard. The myenteric plexus of ganglia and nerves is sandwiched between the 2 muscle layers and is required for peristaltic activity. Maldevelopment or disruption of the neural or muscular elements can impair intestinal motility and cause intestinal pseudo-obstruction. This term refers to a malformation of the muscularis propria, with supernumerary and/or haphazard orientation of muscle fibers. synonym: "Muscularis propria malformation" EXACT [] synonym: "Segmental additional circular muscle coat" EXACT [] is_a: HP:0030935 ! Abnormality of intestinal smooth muscle morphology property_value: http://purl.org/dc/elements/1.1/date 2016-12-02T15:21:06Z xsd:dateTime created_by: robinp [Term] id: HP:0030937 name: Fibrotic muscularis propria def: "The presence of excessive fibrous connective tissue in the muscularis propria of the intestine. Fibrosis is a reparative or reactive process." [] is_a: HP:0030935 ! Abnormality of intestinal smooth muscle morphology property_value: http://purl.org/dc/elements/1.1/date 2016-12-02T21:21:03Z xsd:dateTime created_by: robinp [Term] id: HP:0030938 name: Enteric intraneuronal nuclear inclusion bodies def: "Aggregates of stainable substances (proteins) in the nuclei of enteric neurons." [] is_a: HP:0025029 ! Abnormality of enteric neuron morphology property_value: http://purl.org/dc/elements/1.1/date 2016-12-05T13:25:36Z xsd:dateTime created_by: robinp [Term] id: HP:0030939 name: Palpebral thickening def: "An increased thickness of the eyelid not related to acute inflammation." [] synonym: "Eyelid thickening" EXACT [] synonym: "Thick eyelids" EXACT [] synonym: "Thickened but nonswollen eyelids" EXACT [] synonym: "Thickened eyelid" EXACT [] is_a: HP:0000492 ! Abnormal eyelid morphology property_value: http://purl.org/dc/elements/1.1/date 2016-12-05T13:46:21Z xsd:dateTime created_by: robinp [Term] id: HP:0030943 name: Vulvodynia def: "Pain in the vulvar area" [] synonym: "Vulvar pain" EXACT [] is_a: HP:0012531 ! Pain property_value: http://purl.org/dc/elements/1.1/date 2016-12-14T13:34:48Z xsd:dateTime created_by: robinp [Term] id: HP:0030946 name: Conjunctival papillae def: "Raised tissue masses located on the palpebral conjunctiva with a central vessel. Papillae are created by a focal infiltration of inflammatory cells." [] comment: Papillae may be observed with papillary conjunctivitis. The inflammatory cells in the papillae may differ according to the cause. For instance, eosinophils predominate in allergic conditions and neutrophils in bacterial disease. is_a: HP:0000502 ! Abnormal conjunctiva morphology property_value: http://purl.org/dc/elements/1.1/date 2017-01-13T20:21:47Z xsd:dateTime created_by: robinp [Term] id: HP:0030947 name: Conjunctival follicles def: "Small, dome-shaped nodules without a prominent central vessel located on the conjunctiva. The lymphoid follicles are located in the subendothelial region of the conjunctiva. They consist of a germinal center that contains immature, proliferating lymphocytes, as well as a corona that contains mature lymphocytes and plasma cells." [] comment: The follicles in follicular conjunctivitis are usually most prominent in the inferior palpebral and forniceal conjunctiva. As compared to conjunctival papillae, conjunctival follicles appear more pale on the surface and redder at the base. is_a: HP:0000502 ! Abnormal conjunctiva morphology property_value: http://purl.org/dc/elements/1.1/date 2017-01-13T20:23:46Z xsd:dateTime created_by: robinp [Term] id: HP:0030948 name: Elevated gamma-glutamyltransferase activity def: "Increased activity of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues." [] comment: Gamma-glutamyl transferase (GGT) is elevated with most liver diseases and with bile duct damage. Its main clinical use is in the evaluation of patients with isolated elevation in alkaline phosphatase (which can be of hepatic or bone origin). However, there are extrahepatic causes of GGT elevation including pancreatitis, prostate carcinoma, breast carcinoma, lung carcinoma, systemic lupus erythematosus, and congestive heart failure. is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity property_value: http://purl.org/dc/elements/1.1/date 2017-01-13T21:20:27Z xsd:dateTime created_by: robinp [Term] id: HP:0030949 name: Glomerular deposits def: "An abnormal accumulation of protein in the glomerulus." [] is_a: HP:0000095 ! Abnormality of renal glomerulus morphology property_value: http://purl.org/dc/elements/1.1/date 2017-01-13T21:44:36Z xsd:dateTime created_by: robinp [Term] id: HP:0030950 name: Pulmonary venous hypertension def: "An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension." [] comment: Common causes of pulmonary venous hypertension are obstruction to left ventricular (LV) inflow, LV systolic dysfunction, severe mitral regurgitation, and acute pulmonary and systemic volume overload. As the pulmonary venous pressure nears 22 mm Hg, interstitial pulmonmary edema may develop. As it reaches 25 mm Hg, alveolar edema may ensue. is_a: HP:0030875 ! Abnormality of pulmonary circulation property_value: http://purl.org/dc/elements/1.1/date 2017-01-13T21:56:41Z xsd:dateTime created_by: robinp [Term] id: HP:0030951 name: Skeletal muscle fibrosis def: "Excessive formation of fibrous bands of scar tissue in between muscle fibers." [PMID:21798099] comment: Pathophysiologic fibrosis, which is essentially an excessive accumulation of extracellular matrix components, particularly collagen, is the end result of a cascade of events proceeding from tissue injury via inflammation, and resulting in permanent scar formation. Fibrosis can impair tissue function. In skeletal muscle, fibrosis is most often associated with the muscular dystrophies. is_a: HP:0011805 ! Abnormal muscle morphology is_a: HP:0040290 ! Abnormality of skeletal muscles property_value: http://purl.org/dc/elements/1.1/date 2017-01-13T22:27:25Z xsd:dateTime created_by: robinp [Term] id: HP:0030952 name: Birdshot choroidal lesions def: "Multiple cream-yellow colored hypopigmented choroidal anomalies whose size is approximately one quarter to one half of that of the optic disc, and whose location tends to cluster around the optic nerve radiating towards the periphery. The pattern of the lesions is said to be similar to gunshot spatter from birdshot." [] is_a: HP:0000610 ! Abnormal choroid morphology property_value: http://purl.org/dc/elements/1.1/date 2017-01-13T22:33:03Z xsd:dateTime created_by: robinp [Term] id: HP:0030953 name: Conjunctival hyperemia def: "Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera." [] synonym: "Conjunctival hyperaemia" EXACT HP:0045076 [] synonym: "Conjunctival injection" EXACT [] synonym: "Conjunctival vascular congestion" EXACT [] is_a: HP:0000502 ! Abnormal conjunctiva morphology is_a: HP:0025337 ! Red eye property_value: http://purl.org/dc/elements/1.1/date 2017-01-13T22:41:03Z xsd:dateTime created_by: robinp [Term] id: HP:0030955 name: Alcoholism def: "An addictive behavior defined as drinking excessive amounts of alcohol over a long period of time, having difficulty reducing the amount of alcohol consumed, strongly desiring alcohol and experiencing withdrawal symptoms when not drinking alcohol." [] is_a: HP:0030858 ! Addictive behavior property_value: http://purl.org/dc/elements/1.1/date 2017-01-13T22:59:58Z xsd:dateTime created_by: robinp [Term] id: HP:0030956 name: Abnormality of cardiovascular system electrophysiology def: "An anomaly of the electrical conduction physiology of the heart." [] is_a: HP:0011025 ! Abnormal cardiovascular system physiology property_value: http://purl.org/dc/elements/1.1/date 2017-03-17T17:47:04Z xsd:dateTime created_by: robinp [Term] id: HP:0030957 name: Ventricular septal aneurysm def: "A bowing (bulding to one side) of the interventricular septum of more than 15 mm on either side in adults and 5 mm in children during normal cardiac motion." [] comment: Interventricular septal aneuryms may involve either the membranous or muscular portion of the interventricular septum. Membranous interventricular septal aneurysm is more common. synonym: "Ventricular septal dilatation" NARROW [] is_a: HP:0010438 ! Abnormal ventricular septum morphology property_value: http://purl.org/dc/elements/1.1/date 2017-03-17T20:01:17Z xsd:dateTime created_by: robinp [Term] id: HP:0030958 name: Membranous ventricular septal aneurysm def: "Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle)." [PMID:5846101, PMID:6018320] comment: The pars membranacea is the last portion of the septum formed in the fetus, is lo-cated between the left and right ventricles in front of the tricuspid valve, and between the left ventricle and the right atrium, behind the tricuspid valve. It lies in close proximity to the aortic and atrioventricular valves and is considered to be the weakest part of the ventricular septum. The aneurysms of the membranous portion usually measure 1 to 2 cm in all diameters and their walls are composed of fibrous tissue forming thick trabeculae when seen from the left ventricle. They can project into different portions of the right ventricle or right atrium. synonym: "Aneurysm of the membranous ventricular septum" NARROW [] synonym: "Interventricular septum membranous part aneurysm" EXACT [ORCID:0000-0001-5208-3432] xref: Fyler:2346 is_a: HP:0030957 ! Ventricular septal aneurysm property_value: http://purl.org/dc/elements/1.1/date 2017-03-17T20:04:30Z xsd:dateTime created_by: robinp [Term] id: HP:0030959 name: Muscular ventricular septal aneurysm def: "Bowing (bulging out) of the muscular part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle)." [PMID:5846101] comment: Aneurysm of the muscular interventricular septum is a rare entity compared to aneurysms of the membranous part. The majority of cases are due to a previous history of myocardial infarction or VSD closure. Muscular interventricular septal aneurysm can arise from the basal, mid or apical part. synonym: "Aneurysm of the muscular ventricular septum" EXACT [] is_a: HP:0030957 ! Ventricular septal aneurysm property_value: http://purl.org/dc/elements/1.1/date 2017-03-17T20:22:16Z xsd:dateTime created_by: robinp [Term] id: HP:0030960 name: obsolete Abnormal pupillary morphology is_obsolete: true replaced_by: HP:0000615 [Term] id: HP:0030961 name: Microspherophakia def: "Lens of the eye is smaller than normal and spherically shaped." [] is_a: HP:0008063 ! Aplasia/Hypoplasia of the lens property_value: http://purl.org/dc/elements/1.1/date 2017-04-18T12:55:01Z xsd:dateTime created_by: robinp [Term] id: HP:0030962 name: Abnormal morphology of the great vessels def: "A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta." [] is_a: HP:0025015 ! Abnormal vascular morphology property_value: http://purl.org/dc/elements/1.1/date 2017-04-18T13:00:44Z xsd:dateTime created_by: robinp [Term] id: HP:0030963 name: obsolete Abnormal aortic morphology is_obsolete: true replaced_by: HP:0001679 [Term] id: HP:0030964 name: Abnormal aortic physiology is_a: HP:0025323 ! Abnormal arterial physiology property_value: http://purl.org/dc/elements/1.1/date 2017-04-18T13:14:14Z xsd:dateTime created_by: robinp [Term] id: HP:0030965 name: Aortic stiffness def: "The elastic properties of the aorta allow the aorta to store half of the cardiac ejected blood volume per beat, whereby aortic recoil during diastole pushes the remaining stored volume forward into the peripheral circulation, a phenomenon known as the Windkessel function. Aortic stiffness occurs as the elastic fibers within the arterial wall become disrupted due to mechanical stress (with age or due to other factors). Aortic stiffness refers to a reduction in the elasticity of the aorta, which is associated with an elevated pulse pressure, increased wave reflection, and often hypertension." [PMID:28540066] synonym: "Increased aortic stiffness" EXACT [] is_a: HP:0030964 ! Abnormal aortic physiology property_value: http://purl.org/dc/elements/1.1/date 2017-04-18T13:16:10Z xsd:dateTime created_by: robinp [Term] id: HP:0030966 name: Abnormal pulmonary artery morphology def: "An abnormality of the structure of the pulmonary artery." [] is_a: HP:0004414 ! Abnormality of the pulmonary artery is_a: HP:0030962 ! Abnormal morphology of the great vessels property_value: http://purl.org/dc/elements/1.1/date 2017-04-18T13:29:12Z xsd:dateTime created_by: robinp [Term] id: HP:0030967 name: Abnormal pulmonary artery physiology def: "An abnormality of the function of the pulmonary artery." [] is_a: HP:0004414 ! Abnormality of the pulmonary artery property_value: http://purl.org/dc/elements/1.1/date 2017-04-18T13:29:51Z xsd:dateTime created_by: robinp [Term] id: HP:0030968 name: Abnormal pulmonary vein morphology def: "An abnormality of the structure of the pulmonary veins." [] xref: Fyler:3000 is_a: HP:0011718 ! Abnormality of the pulmonary veins is_a: HP:0030962 ! Abnormal morphology of the great vessels property_value: http://purl.org/dc/elements/1.1/date 2017-04-18T13:38:34Z xsd:dateTime created_by: robinp [Term] id: HP:0030969 name: Abnormal pulmonary vein physiology def: "An abnormality of the function of the pulmonary veins." [] is_a: HP:0011718 ! Abnormality of the pulmonary veins property_value: http://purl.org/dc/elements/1.1/date 2017-04-18T13:38:42Z xsd:dateTime created_by: robinp [Term] id: HP:0030970 name: Abnormal vena cava physiology def: "An abnormality of the function of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava." [] is_a: HP:0030846 ! Abnormality of venous physiology property_value: http://purl.org/dc/elements/1.1/date 2017-04-18T13:41:37Z xsd:dateTime created_by: robinp [Term] id: HP:0030971 name: obsolete Abnormal vena cava morphology is_obsolete: true replaced_by: HP:0005345 [Term] id: HP:0030972 name: Abnormal systemic blood pressure def: "A chronic deviation from normal pressure in the systemic arterial system." [] synonym: "Abnormal systemic BP" EXACT HP:0045077 [] is_a: HP:0011025 ! Abnormal cardiovascular system physiology property_value: http://purl.org/dc/elements/1.1/date 2017-04-18T13:55:40Z xsd:dateTime created_by: robinp [Term] id: HP:0030973 name: Postexertional malaise def: "A subjective feeling of tiredness characterized by a lack of energy and motivation and that is induced by exertion or exercise." [] comment: The manifestations of postexertional malaise can include dead, heavy feeling after starting to exercise, next-day soreness or fatigue after non-strenuous, everday activities, being mentally tired after slight effort, and feeling physically drained or sick after mild activity. synonym: "Exercise-induced fatigue" EXACT [] synonym: "Exercise-induced malaise" EXACT [] synonym: "Postexertional fatigue" EXACT [] is_a: HP:0012378 ! Fatigue property_value: http://purl.org/dc/elements/1.1/date 2017-04-18T14:35:09Z xsd:dateTime created_by: robinp [Term] id: HP:0030974 name: Cryptozoospermia def: "A type of low sperm count where ejaculated semen contains less than 100,000 spermatozoa per ml. With cryptozoospermia, the sperm count may fluctuate and a zero sperm count in the ejaculate may be initially measured. If sperm are observed in a second semen sample following centrifugation, the diagnosis of cryptozoospermia can be made (and azoospermia can be ruled out)." [PMID:25780588] synonym: "Cryptospermia" EXACT [] is_a: HP:0000798 ! Oligospermia property_value: http://purl.org/dc/elements/1.1/date 2017-04-18T15:25:12Z xsd:dateTime created_by: robinp [Term] id: HP:0030975 name: Pontine tegmental cap def: "An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle." [PMID:17690130, PMID:18842761, PMID:25691269] synonym: "Vaulted pontine tegmentum" EXACT [] is_a: HP:0007361 ! Abnormality of the pons property_value: http://purl.org/dc/elements/1.1/date 2017-04-28T14:09:05Z xsd:dateTime created_by: robinp [Term] id: HP:0030976 name: Abnormal factor VIII activity def: "A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X." [] is_a: HP:0010989 ! Abnormality of the intrinsic pathway property_value: http://purl.org/dc/elements/1.1/date 2017-05-10T22:59:20Z xsd:dateTime created_by: robinp [Term] id: HP:0030977 name: Increased factor VIII activity def: "Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X." [ORCID:0000-0002-2826-3879] comment: Levels of Factor VIII above 250 IU/dL are associated with an increased risk of venous thrombosis. is_a: HP:0030976 ! Abnormal factor VIII activity property_value: http://purl.org/dc/elements/1.1/date 2017-05-10T23:00:13Z xsd:dateTime created_by: robinp [Term] id: HP:0030978 name: Decreased CSF/serum albumin ratio def: "A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration." [ORCID:0000-0003-0169-8159, PMID:27388694] is_a: HP:0030981 ! Abnormal CSF/serum albumin ratio property_value: http://purl.org/dc/elements/1.1/date 2017-06-05T10:50:18Z xsd:string created_by: HPO:probinson [Term] id: HP:0030979 name: Dilatation of large choroidal vessels def: "Enlargement of the large blood vessels in the choroid." [PMID:26026923] comment: Choroidal thickening can be a feature of central serous chorioretinopathy and results from focal or diffuse dilatation of large choroidal vessels, which are commonly localized within areas of increased choroidal vascular permeability on indocyanine green angiography. synonym: "Dilated choroidal vessels" EXACT [] is_a: HP:0025568 ! Abnormal morphology of the choroidal vasculature property_value: http://purl.org/dc/elements/1.1/date 2017-05-10T23:59:11Z xsd:dateTime created_by: robinp [Term] id: HP:0030980 name: Reduced brain glutamine level by MRS def: "An decrease in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS)." [ORCID:0000-0003-0169-8159, PMID:24123328] is_a: HP:0012705 ! Abnormal metabolic brain imaging by MRS property_value: http://purl.org/dc/elements/1.1/date 2017-05-05T09:56:23Z xsd:string created_by: HPO:probinson [Term] id: HP:0030981 name: Abnormal CSF/serum albumin ratio def: "A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integrity of the BBB with leakage of albumin into the CSF." [PMID:27388694] is_a: HP:0002921 ! Abnormality of the cerebrospinal fluid created_by: HPO:probinson [Term] id: HP:0030983 name: Ovarian thecoma def: "A sex cord-stromal tumor of the ovary. Thecomas range from small tumors to large solid or solid-cystic masses of up to 15 cm. They are unilateral in over 90 percent of cases and are rarely malignant. Thecomas are stromal tumors made up of cells that resemble theca cells, lutein cells and fibroblasts. They are traditionally classified within the sex cord-stromal tumor category of ovarian tumor types." [NCIT:C1882229, PMID:27284435] is_a: HP:0031918 ! Ovarian sex cord-stromal tumor property_value: http://purl.org/dc/elements/1.1/date 2017-05-31T00:22:37Z xsd:dateTime created_by: robinp [Term] id: HP:0030984 name: Abnormal serum bile acid concentration def: "A deviation from the normal concentration of serum bile acid concentration." [] comment: There are two major bile acids, cholic acid and chenodeoxycholic acid, which are synthesised in the hepatocyte by the cytochrome P450-mediated oxidation of cholesterol. These bile acids are secreted into the biliary canaliculi as sodium salts and conjugated with glycine, taurine, sulphate or glucuronic acid, and stored in the gall bladder until excreted into the intestinal lumen in response to a fatty meal. Enterohepatic circulation of bile salts is associated with conversion of the primary bile salts to seconday bile salts by bacerial enyzmes. The total bile pool of about 4 grams is recirculated about 5 to 10 times per day. Because serum bile salt concentration can increase by two to five times after a meal it is important that bile salts are measured while the subject is fasting. is_a: HP:0010996 ! Abnormal circulating monocarboxylic acid cocentration property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T12:45:39Z xsd:dateTime created_by: peter [Term] id: HP:0030985 name: Decreased serum bile concentration def: "A reduction in the concentration of bile acid in the blood." [] is_a: HP:0030984 ! Abnormal serum bile acid concentration property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T13:02:06Z xsd:dateTime created_by: peter [Term] id: HP:0030986 name: Biliary epithelial hyperplasia def: "Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen." [PMID:21994886] is_a: HP:0012440 ! Abnormal biliary tract morphology property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T13:29:36Z xsd:dateTime created_by: peter [Term] id: HP:0030987 name: Suppurative cholangitis def: "Cholangitis characterized by the presence of numerous polymorphonuclear cells around and within the wall as well as within the lumen of the ducts. This may involve ducts of any size and is occasionally associated with abscess formation (cholangitic abscess)." [PMID:21994886] comment: A microbial infection is often for suppurative cholangitis, but the change also occurs in the presence of sterile bile, particularly after bile extravasation. The release of chemokines or cytokines is the likely cause in some cases. is_a: HP:0030151 ! Cholangitis property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T13:33:51Z xsd:dateTime created_by: peter [Term] id: HP:0030988 name: Granulomatous cholangitis def: "Cholangitis characterized by the accumulation of granulomas. Granulomas are aggregates of modified macrophages (epithelioid cells) and other inflammatory cells that accumulate after chronic exposure to antigens. The underlying trigger may be exposure to noxious agents that cannot be biochemically degraded or to immune dysfunction. The ultimate result is a release of a variety cytokines that stimulate mononuclear cells that fuse to form multinucleated giant cells with a surrounding rim of lymphocytes and fibroblasts." [PMID:22333006] comment: Granulomatous cholangitis involving the interlobular bile ducts constitutes the hallmark of primary biliary cholangitis and is also found in drug-induced liver disease and sarcoidosis. is_a: HP:0030151 ! Cholangitis property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T13:35:48Z xsd:dateTime created_by: peter [Term] id: HP:0030989 name: Lymphoid cholangitis def: "Cholangitis characterized by a close association between duct branches, usually interlobular bile ducts, and lymphocytic aggregates, which may show a follicular arrangement." [PMID:21994886] is_a: HP:0030151 ! Cholangitis property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T13:40:31Z xsd:dateTime created_by: peter [Term] id: HP:0030990 name: Pleomorphic cholangitis def: "Cholangitis associated with mixed inflammatory infiltrates and the presence of fibrosis or sclerosis of the biliary tree." [] is_a: HP:0030151 ! Cholangitis property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T13:41:39Z xsd:dateTime created_by: peter [Term] id: HP:0030991 name: Sclerosing cholangitis def: "Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative." [] synonym: "Fibrous cholangitis" EXACT [] is_a: HP:0030151 ! Cholangitis property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T13:42:59Z xsd:dateTime created_by: peter [Term] id: HP:0030992 name: Abnormal pancreatic duct morphology def: "Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and and transports them to the duodenum." [PMID:24265565] comment: The pancreas develops from dorsal and ventral buds that first appear in the fifth gestational week as outgrowths of the primitive foregut. By the seventh gestational week, expansion of the duodenum causes the ventral bud to rotate and pass behind the duodenum from right to left and fuse with the dorsal bud. The ventral bud forms the posterior head and uncinate process, whereas the dorsal bud forms the anterior head, body, and tail. Following this fusion, the ductal systems anastomose, a complicated process with a wide spectrum of possible outcomes. The portion of the ventral duct between the dorsal-ventral fusion and major papilla is termed the duct of Wirsung. The portion of the dorsal duct upstream to the dorsalventral fusion point is called the main pancreatic duct. The segment of the dorsal duct downstream to the dorsal-ventral fusion point is termed the duct of Santorini, or accessory pancreatic duct, which drains at the papilla minor [PMID:242655659]. is_a: HP:0012090 ! Abnormal pancreas morphology property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T13:51:20Z xsd:dateTime created_by: peter [Term] id: HP:0030993 name: Duplication of pancreatic duct def: "A congenital anomaly characterized by the presence of two separate pancreatic ducts." [] synonym: "Duplicated pancreatic duct" EXACT [] is_a: HP:0030992 ! Abnormal pancreatic duct morphology property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T13:55:22Z xsd:dateTime created_by: peter [Term] id: HP:0030994 name: Pancreas divisum def: "A congenital anomaly of the pancreas that results from failed fusion of the dorsal and ventral ducts during embyological development. Three variants have been described: type 1 or classical divisum in which there is total failure of fusion; type 2 in which dorsal drainage is dominant in the absence of the duct of Wirsung; and type 3 or incomplete divisum where a small communicating branch is present." [PMID:24265565] comment: In pancreas divisum, the majority of the pancreatic gland drains into the minor papilla via the duct of Santorini, whereas the posterior head and uncinate process drain into the major papilla via the duct of Wirsung with the common bile duct. Although most patients are asymptomatic, in some patients, this anomaly is associated with recurrent acute pancreatitis because of inadequate drainage of pancreatic secretions via the minor papilla. is_a: HP:0012090 ! Abnormal pancreas morphology property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T13:56:45Z xsd:dateTime created_by: peter [Term] id: HP:0030995 name: Peritoneal effusion def: "An increase in the amount of fluid present in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen)." [] is_a: HP:0002585 ! Abnormality of the peritoneum property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T14:07:02Z xsd:dateTime created_by: peter [Term] id: HP:0030996 name: Megaduodenum def: "Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum." [] comment: Megaduodenum may present with a feeling of gastric fullness, epigastric pain, belching, heartburn, and nausea with vomiting. is_a: HP:0002246 ! Abnormality of the duodenum property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T14:10:04Z xsd:dateTime created_by: peter [Term] id: HP:0030997 name: Atretic vas deferens def: "Abnormal closure or blockage of the vas deferens." [] synonym: "Atresia of the vas deferens" EXACT [] synonym: "Vas deferens atresia" EXACT [] is_a: HP:0012872 ! Abnormal vas deferens morphology property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T14:13:29Z xsd:dateTime created_by: peter [Term] id: HP:0030998 name: Cerebrospinal fluid rhinorrhoea def: "Drainage of cerebrospinal fluid through the nose. This can occur when there is a fistula between the dura and the skull base and discharge of cerebrospinal fluid (CSF) from the nose." [PMID:17767107] comment: CSF rhinorrhea or liquorrhoea commonly occurs following head trauma (fronto-basal skull fractures), as a result of intracranial surgery, or destruction lesions. A spinal fluid leak from the intracranial space to the nasal respiratory tract is potentially very serious because of the risk of an ascending infection which could produce fulminant meningitis. synonym: "CSF rhinorrhoea" EXACT HP:0045077 [] is_a: HP:0002921 ! Abnormality of the cerebrospinal fluid property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T18:30:18Z xsd:dateTime created_by: peter [Term] id: HP:0030999 name: Abnormal vestibular saccule morphology def: "Any structural anomaly of the saccule of the vestibule. The saccule is the otolith organ that senses motions in the sagittal plane (i.e., up-down movement)." [] is_a: HP:0011376 ! Morphological abnormality of the vestibule of the inner ear property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T18:38:27Z xsd:dateTime created_by: peter [Term] id: HP:0031000 name: Vestibular saccular degeneration def: "Deterioration or loss of the tissues of the saccule of the vestibule." [] is_a: HP:0030999 ! Abnormal vestibular saccule morphology property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T20:01:44Z xsd:dateTime created_by: peter [Term] id: HP:0031001 name: Minifascicle formation def: "A nerve fascicle or fasciculus is a small bundle of axons, enclosed by the perineurium. A minifascule refers to a group of thinly myelinated and unmyelinated axons surrounded by a delicate perineurium, and with a smaller diamter than a normal nerve fascicle." [] is_a: HP:0000759 ! Abnormal peripheral nervous system morphology property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T20:08:29Z xsd:dateTime created_by: peter [Term] id: HP:0031002 name: Neuritis def: "Inflammation of a nerve." [] is_a: HP:0000759 ! Abnormal peripheral nervous system morphology property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T20:14:14Z xsd:dateTime created_by: peter [Term] id: HP:0031003 name: Polyneuritis def: "Simulataneous inflammation of multiple nerves." [] synonym: "Multiple neuritis" EXACT [] is_a: HP:0031002 ! Neuritis property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T20:14:55Z xsd:dateTime created_by: peter [Term] id: HP:0031004 name: Hemiareflexia def: "Areflexia that is limited to one side of the body." [PMID:6722516] is_a: HP:0001284 ! Areflexia property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T20:18:36Z xsd:dateTime created_by: peter [Term] id: HP:0031005 name: Hyperalgesia def: "Abnormally increased sensitivity to pain." [] is_a: HP:0010832 ! Abnormality of pain sensation property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T20:21:53Z xsd:dateTime created_by: peter [Term] id: HP:0031006 name: Acroparesthesia def: "A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes." [] is_a: HP:0003401 ! Paresthesia property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T20:23:24Z xsd:dateTime created_by: peter [Term] id: HP:0031007 name: Orofacial action-specific dystonia induced by speech synonym: "Jaw dystonia induced by speaking" RELATED [] is_a: HP:0012179 ! Craniofacial dystonia property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T21:07:23Z xsd:dateTime created_by: peter [Term] id: HP:0031008 name: Lingual dystonia def: "Involuntary protrusions, movements, spams and contortions of the tongue." [PMID:24808861] comment: Tongue dystonia may be triggered by speaking but not during other tasks such as eating, drinking, whistling, and blowing. synonym: "Tongue dystonia" EXACT [] is_a: HP:0012179 ! Craniofacial dystonia property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T21:10:32Z xsd:dateTime created_by: peter [Term] id: HP:0031009 name: Ainhum def: "Development of a fibrotic constriction ring involving the base of one or more toes, conditioning eversion and absorption of distal structures, possibly progressing to spontaneous amputation." [] synonym: "Dactylolysis spontanea" EXACT [] xref: PMID:26379327 is_a: HP:0001780 ! Abnormality of toe property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T21:33:40Z xsd:dateTime created_by: peter [Term] id: HP:0031010 name: Hyperphalangy of the 3rd finger def: "An accessory phalanx of the third (middle) finger that is arranged linearly with the other phalanges. Hyperphalangy results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the finger." [] synonym: "Hyperphalangy of third finger" EXACT [] is_a: HP:0030367 ! Finger hyperphalangy property_value: http://purl.org/dc/elements/1.1/date 2017-05-13T21:44:05Z xsd:dateTime created_by: peter [Term] id: HP:0031011 name: Fatty streak def: "Yellow-colored streaks, patches, or spots on the intimal surface of arteries. Fatty streaks stain red with Sudan III or Sudan IV." [PMID:8181179] comment: Some early studies used the terms sudanophilic lesion or sudanophilia to refer to fatty streaks. synonym: "Sudanophilic lesion" RELATED [] is_a: HP:0002621 ! Atherosclerosis property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T02:35:32Z xsd:dateTime created_by: peter [Term] id: HP:0031012 name: Thin-cap fibroatheroma def: "Thin-cap fibroatheroma is characterized by a relatively large necrotic core with an overlying thin fibrous cap measuring <65 µm typically containing numerous macrophages, and is considered to be the precursor lesion of plaque rupture which is the most common cause of coronary thrombosis." [PMID:27500096] synonym: "TCFA" EXACT HP:0045077 [] is_a: HP:0002621 ! Atherosclerosis property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T02:45:29Z xsd:dateTime created_by: peter [Term] id: HP:0031013 name: Ankylosis def: "A reduction of joint mobility resulting from changes involving the articular surfaces." [] comment: Note that contracture refers to a reduction of joint mobility due to permanent shortening of the soft parts around a joint, muscles, tendons, ligaments, fasciae, or skin. Ankylosis and contracture can occur together or alone. Fibrous ankylosis refers to adhesions between the opposing surface of a joint. Cartilaginous ankylosis implies the fusion of two apposed cartilaginous surfaces. Bony ankylosis or synostosis refers to an osseous union between articulating surfaces. is_a: HP:0001376 ! Limitation of joint mobility property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T02:58:48Z xsd:dateTime created_by: peter [Term] id: HP:0031014 name: Arteria lusoria def: "Usually, three large arteries arise from the arch of the aorta: the brachiocephalic trunk (divided into the right common carotid artery and the right subclavian artery), the left common carotid artery, and the left subclavian artery. However, when aberrant right subclavian artery variant is present, the brachiocephalic trunk is absent and four large arteries arise from the arch of the aorta: the right common carotid artery, the left common carotid artery, the left subclavian artery, and the final one with the most distal left sided origin, the right subclavian artery, also called the arteria lusoria." [PMID:25105156] synonym: "Aberrant right subclavian artery" EXACT [] synonym: "Lusorian artery" EXACT [] is_a: HP:0031251 ! Abnormal subclavian artery morphology property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T03:40:20Z xsd:dateTime created_by: peter [Term] id: HP:0031015 name: Intrahepatic portal vein sclerosis def: "Sclerosis of the intrahepatic portal veins of the liver and generally accompanied by non-cirrhotic portal hypertension, features of which may include splenomegaly and varices." [PMID:25796481] comment: The diagnosis is based on histological examination of the liver. Clinical manifestations include encephalopathy, ascites and variceal bleeding. synonym: "Idiopathic non-cirrhotic portal hypertension" RELATED [] synonym: "Incomplete septal cirrhosis" RELATED [] synonym: "Non cirrhotic portal fibrosis" RELATED [] synonym: "Obliterative portal venopathy" RELATED [] is_a: HP:0031941 ! Abnormal portal venous system morphology property_value: http://purl.org/dc/elements/1.1/date 2017-05-20T11:15:20Z xsd:dateTime created_by: peter [Term] id: HP:0031016 name: Alternating radiolucent and radiodense metaphyseal lines def: "Areas of radio-opaque sclerotic bands alternating with those of normal lucency give rise to stripes akin to a zebra." [PMID:28384951] comment: In cases where this sign arises in children treated with bisphosphonates, the sign is known as the zebra stripe sign, which is radiological manifestation of cyclical bisphosphonate therapy prior to closure of epiphyseal growth plates. synonym: "Zebra stripe sign" RELATED [] is_a: HP:0000944 ! Abnormality of the metaphysis property_value: http://purl.org/dc/elements/1.1/date 2017-05-20T11:32:22Z xsd:dateTime created_by: peter [Term] id: HP:0031017 name: Swiss cheese atrial septal defect def: "Multiple defects in the atrial septum." [PMID:18559707] comment: The label derives from the resemblance of the multiple atrial defects to Emmental cheese, a medium-hard cheese of Swiss origin that features characteristic holes. is_a: HP:0001631 ! Atrial septal defect property_value: http://purl.org/dc/elements/1.1/date 2017-05-20T11:43:29Z xsd:dateTime created_by: peter [Term] id: HP:0031018 name: Eccrine syringofibroadenoma def: "Eccrine syringofibroadenoma (ESFA) is a benign adnexal tumor arising most often on the extremities of elderly individuals characterized by anastomosing cords of cuboidal epithelial cells surrounded by a fibrovascular stroma containing plasma cells and ductal structures. ESFA stains positively with epithelial membrane antigen (EMA) and carcinoembryonic antigen (CEA)." [NCIT:CL017969, PMID:26937300] synonym: "Acrosyringeal adenomatosis" EXACT [] synonym: "Eccrine syringofibroadenomatous hyperplasia" EXACT [] synonym: "Syringofibroadenoma" EXACT [] is_a: HP:0008069 ! Neoplasm of the skin property_value: http://purl.org/dc/elements/1.1/date 2017-05-31T00:32:10Z xsd:dateTime created_by: robinp [Term] id: HP:0031019 name: Pyknotic bone marrow neutrophils def: "Nuclear lobes of neutrophils in the bone marrow are thickened and condensed, and individual lobes are connected by unusually long chromatin filaments." [] is_a: HP:0011992 ! Abnormality of neutrophil morphology property_value: http://purl.org/dc/elements/1.1/date 2017-06-14T16:30:54Z xsd:dateTime created_by: robinp [Term] id: HP:0031020 name: Bone marrow hypercellularity def: "A larger than normal amount or percentage of hematopoietic cells relative to marrow fat." [] is_a: HP:0012145 ! Abnormality of multiple cell lineages in the bone marrow property_value: http://purl.org/dc/elements/1.1/date 2017-06-14T16:35:25Z xsd:dateTime created_by: robinp [Term] id: HP:0031021 name: Squamous Papilloma def: "A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy [NCI thesaurus]." [] xref: NCIT:C3712 is_a: HP:0012740 ! Papilloma property_value: http://purl.org/dc/elements/1.1/date 2017-05-21T13:13:55Z xsd:dateTime created_by: peter [Term] id: HP:0031022 name: Oropharyngeal squamous papilloma def: "A benign exophytic neoplasm that arises from the oropharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium [NCI thesaurus]." [] xref: NCIT:C6038 is_a: HP:0031021 ! Squamous Papilloma property_value: http://purl.org/dc/elements/1.1/date 2017-05-21T13:15:14Z xsd:dateTime created_by: peter [Term] id: HP:0031023 name: Multiple mucosal neuromas def: "Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath." [PMID:16702501] xref: NCIT:C6559 is_a: HP:0030430 ! Neuroma property_value: http://purl.org/dc/elements/1.1/date 2017-05-21T13:18:01Z xsd:dateTime created_by: peter [Term] id: HP:0031024 name: Cylindroma def: "A benign skin adnexal tumor of eccrine differentiation." [NCIT:C27094, PMID:27294061] comment: Cylindromas can be single or multiple and commonly involve the scalp (turban tumor) and face. Multiple cylindromas can have a syndromic association as seen in Brooke-Spiegler syndrome and familial cylindromatosis. is_a: HP:0012842 ! Skin appendage neoplasm property_value: http://purl.org/dc/elements/1.1/date 2017-05-21T13:32:29Z xsd:dateTime created_by: peter [Term] id: HP:0031025 name: Gastric leiomyosarcoma def: "A malignant neoplasm of the stomach that grows submucosally in the gastric wall. Necrosis and hemorrhage may be visible radiologically. Histologically, spindle cells with abnormal mitotic activity may be visible." [NCIT:C27200, PMID:25069607] comment: Gastric leiomyosarcomas are often clinically silent until they reach a large size, bleed or rupture. Thus, the diagnosis is rarely made preoperatively. Since in many cases the mucosa is normal, a definitive diagnosis for resectable tumour is often made after surgery. Seeding of tumour deposits into the serosa or omentum is almost invariably a sign of malignancy. is_a: HP:0006753 ! Neoplasm of the stomach property_value: http://purl.org/dc/elements/1.1/date 2017-05-21T13:42:26Z xsd:dateTime created_by: peter [Term] id: HP:0031026 name: Snail-like ilia def: "The ilia is round and hypoplastic with a very flat acetabular roof and a very unusual medial projection of bone that is said to resemble the head of a snail. Figure 4 of PMID:3799723 illustrates this feature." [PMID:3799723] comment: This feature was first observed in a condition that was termed Schneckenbecken dysplasia, Schneckenbecken is a German word that means snail-like pelvis. synonym: "Schneckenbecken dysplasia" RELATED [] synonym: "Snail-like pelvis" EXACT [] synonym: "Snail-shaped ilia" EXACT [] is_a: HP:0002867 ! Abnormality of the ilium property_value: http://purl.org/dc/elements/1.1/date 2017-05-21T15:50:25Z xsd:dateTime created_by: peter [Term] id: HP:0031027 name: Internal notch of the femoral head def: "A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546." [PMID:11694546, PMID:24339047] is_a: HP:0003368 ! Abnormality of the femoral head property_value: http://purl.org/dc/elements/1.1/date 2017-05-21T16:09:24Z xsd:dateTime created_by: peter [Term] id: HP:0031028 name: Lactescent serum def: "Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level." [PMID:15368719] comment: The normal range for serum triglycerides can be taken to be 40 to 150 mg per dL (0.45 to 1.69 mmol per L). Lactescent serum can be seen with triglyceride levels of several thousand mg per dL. synonym: "Milk-like serum" EXACT [] synonym: "Plasma lactescence" EXACT [] is_a: HP:0002155 ! Hypertriglyceridemia property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T10:37:46Z xsd:dateTime created_by: peter [Term] id: HP:0031029 name: Elevated carcinoembryonic antigen level def: "An increased blood concentration of the carcinoembryonic antigen (CEA). CEA is a member of the immunoglobulin supergene family. The human CEA gene family is clustered on chromosome 19q and comprises 29 genes. CEA is highly expressed in embryonic tissue and in some cancers, and is a widely used tumor marker." [PMID:11274010] synonym: "Increased plasma CEA" EXACT HP:0045077 [] is_a: HP:0010876 ! Abnormal circulating protein level property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T10:48:16Z xsd:dateTime created_by: peter [Term] id: HP:0031030 name: Elevated carcinoma antigen 125 level def: "An increased blood concentration of carcinoma antigen 125 (CA-125). CA-125, also known as mucin 16, can exhibit increased blood levels in certain types of cancer." [PMID:16343244] synonym: "Increased plasma CA125" EXACT HP:0045077 [] is_a: HP:0010876 ! Abnormal circulating protein level property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T10:54:15Z xsd:dateTime created_by: peter [Term] id: HP:0031031 name: Abnormal retinol-binding protein level def: "A deviation from normal blood concentration of retinol-binding protein (RBP). The most commonly used indicator of vitamin A status is the serum retinol concentration (retinol is one of the several compounds known as vitamin A). The serum RBP concentration is used as a surrogate measure for serum retinol." [PMID:14749226] is_a: HP:0010876 ! Abnormal circulating protein level property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T10:59:35Z xsd:dateTime created_by: peter [Term] id: HP:0031032 name: Decreased retinol-binding protein level def: "A reduced blood concentration of retinol-binding protein. This finding predicts vitamin A deficiency with high sensitivity and specificity." [PMID:14749226] is_a: HP:0031031 ! Abnormal retinol-binding protein level property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T11:03:28Z xsd:dateTime created_by: peter [Term] id: HP:0031033 name: Impaired urinary acidification def: "The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect." [PMID:6876936] synonym: "Renal acidification defect" EXACT [] is_a: HP:0012211 ! Abnormal renal physiology property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T11:07:24Z xsd:dateTime created_by: peter [Term] id: HP:0031034 name: Abnormal insulin like growth factor binding protein acid labile subunit level def: "A deviation from the normal blood concentration of the insulin like growth factor binding protein acid labile subunit (IGFALS; Entrez Gene ID 3483). The acid-labile subunit (IGFALS) acts in the insulin-like growth (IGF) system by binding circulating IGF1 in a ternary complex with binding protein (IGFBP)-3 to prevent IGF1 from crossing the endothelial barrier." [PMID:20142246] comment: Plasma IGFALS is positively associated with prostate cancer risk. is_a: HP:0010876 ! Abnormal circulating protein level property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T11:20:49Z xsd:dateTime created_by: peter [Term] id: HP:0031035 name: Chronic infection def: "Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection." [] is_a: HP:0032101 ! Unusual infection property_value: http://purl.org/dc/elements/1.1/date 2017-06-14T16:40:44Z xsd:dateTime created_by: robinp [Term] id: HP:0031036 name: Reduced growth-hormone binding protein level def: "A decreased blood concentration of growth hormone binding protein." [] synonym: "Decreased plasma GH-binding protein" EXACT HP:0045077 [] is_a: HP:0010876 ! Abnormal circulating protein level property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T11:34:42Z xsd:dateTime created_by: peter [Term] id: HP:0031037 name: Reduced insulin-like factor 3 level def: "Blood concentration of insulin-like factor 3 (ILF3) is below normal limits." [PMID:24640568] comment: Insulin-like factor 3 (INSL3) is a peptide hormone produced in leydig cells of the testes. Its role in the adult male is unknown but INSL3 and its receptor RXFP2 have been linked to bone cell differentiation. It is speculated that low levels of INSL3 could be responsible for low bone mineral density in patients with primary osteoporosis and Klinefelter Syndrome. synonym: "Reduced plasma INSL3 level" EXACT HP:0045077 [] is_a: HP:0010876 ! Abnormal circulating protein level property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T11:44:58Z xsd:dateTime created_by: peter [Term] id: HP:0031038 name: Spermatogenesis maturation arrest def: "Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa." [PMID:21684558] comment: Maturation arrest (MA) of spermatogenesis is diagnosed on histology as interruption of spermatogenesis before the final stage without impairment of Sertoli or Leydig cells. It is considered a condition of irreversible or absolute infertility. synonym: "Meiotic maturation arrest of spermatogenesis" EXACT [] is_a: HP:0008669 ! Abnormal spermatogenesis property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T11:49:05Z xsd:dateTime created_by: peter [Term] id: HP:0031039 name: Early spermatogenesis maturation arrest def: "A type of maturation arrest in which only spermatogonia or spermatocytes are found." [PMID:21684558] is_a: HP:0031038 ! Spermatogenesis maturation arrest property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T11:50:54Z xsd:dateTime created_by: peter [Term] id: HP:0031040 name: Late spermatogenesis maturation arrest def: "A type of maturation arrest in which spermatids are detected without spermatozoa." [PMID:21684558] synonym: "Maturation arrest of spermatogenesis at spermatid stage" EXACT [] is_a: HP:0031038 ! Spermatogenesis maturation arrest property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T11:51:00Z xsd:dateTime created_by: peter [Term] id: HP:0031041 name: Obstruction of the superior vena cava def: "Blockage of blood flow through the superior vena cava (SVC). Because the venous drainage from the upper extremities, upper thorax and head is obstructed, SVC obstruction presents with symptoms related to engorgement of these areas. Both the degree of SVC compromise and the extent of collateral veins determine the varied clinical presentation, which can be as mild as slight facial and upper extremity edema or as dire as intracranial swelling, seizures, hemodynamic instability and tracheal obstruction." [] comment: Diagnosis of superior vena cava obstruction may be made by computed tomography with contrast and other means. synonym: "Superior vena cava obstruction" EXACT [] synonym: "Superior vena cava syndrome" RELATED [] is_a: HP:0025575 ! Abnormal superior vena cava morphology property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T12:23:27Z xsd:dateTime created_by: peter [Term] id: HP:0031042 name: Strawberry tongue def: "Inflammed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry." [PMID:26222562] synonym: "Raspberry tongue" EXACT [] is_a: HP:0030809 ! Abnormal tongue morphology property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T13:34:44Z xsd:dateTime created_by: peter [Term] id: HP:0031043 name: Type A4 brachydactyly def: "A type of brachydactyly characterized by brachymesophalangy affecting mainly the 2nd and 5th digits." [PMID:8387724] is_a: HP:0009370 ! Type A brachydactyly property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T13:45:19Z xsd:dateTime created_by: peter [Term] id: HP:0031044 name: Type A5 brachydactyly def: "A type of brachydactyly characterized by absent middle phalanges of digits 2 to 5." [PMID:18554391] comment: Individuals with BDA5 may have nail dysplasia; this should be coded separately. is_a: HP:0009370 ! Type A brachydactyly property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T13:48:13Z xsd:dateTime created_by: peter [Term] id: HP:0031045 name: Acral blistering def: "Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet=." [] is_a: HP:0008066 ! Abnormal blistering of the skin property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T14:02:49Z xsd:dateTime created_by: peter [Term] id: HP:0031046 name: Absent soft palate def: "A developmental defect characterized by lack of a soft palate." [PMID:11420024] synonym: "Agenesis of the soft palate" EXACT [] is_a: HP:0100736 ! Abnormal soft palate morphology property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T14:06:10Z xsd:dateTime created_by: peter [Term] id: HP:0031047 name: Paraproteinemia def: "An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells." [PMID:17403946] comment: A paraprotein is a monoclonal immunoglobulin or light chain present in the blood or urine; it is produced by a clonal population of mature B cells, most commonly plasma cells. Plasma cell disorders can be considered as a spectrum of conditions ranging from monoclonal gammopathy of undetermined significance (MGUS), through asymptomatic, to symptomatic myeloma. The frequency of paraprotein-associated heavy chains is IgG, IgA, IgM, IgD (in that order). Light chains may be kappa or lambda. Paraproteins are associated with both malignant and nonmalignant conditions and may lead to complications including neuropathy and nephropathy. synonym: "Monoclonal hypergammaglobulinemia" EXACT [] is_a: HP:0010702 ! Increased antibody level in blood property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T14:25:46Z xsd:dateTime created_by: peter [Term] id: HP:0031048 name: Light-chain paraproteinemia def: "An abnormal immunoglobulin light chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells." [] is_a: HP:0031047 ! Paraproteinemia property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T14:28:36Z xsd:dateTime created_by: peter [Term] id: HP:0031049 name: Heavy-chain paraproteinemia def: "An abnormal immunoglobulin heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells." [] is_a: HP:0031047 ! Paraproteinemia property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T14:29:55Z xsd:dateTime created_by: peter [Term] id: HP:0031050 name: Whole-immunoglobulin paraproteinemia def: "An abnormal immunoglobulin (heavy and light chain) in the circulation and typically produced by a clonal population of B-cell derived plasma cells." [] is_a: HP:0031047 ! Paraproteinemia property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T14:30:25Z xsd:dateTime created_by: peter [Term] id: HP:0031051 name: Tarsal sclerosis def: "An elevation in bone density in one or more tarsal bones of the foot. Sclerosis is normally detected on a radiograph as an area of increased opacity." [] is_a: HP:0009132 ! Abnormal tarsal bone mineral density is_a: HP:0100925 ! Sclerosis of foot bone property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T14:41:39Z xsd:dateTime created_by: peter [Term] id: HP:0031052 name: Elevated vascular endothelial growth factor level def: "Increased blood concentration of vascular endothelial growth factor (VEGF)." [] is_a: HP:0003117 ! Abnormal circulating hormone level property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T15:09:56Z xsd:dateTime created_by: peter [Term] id: HP:0031053 name: Coarctation in the transverse aortic arch def: "Narrowing or constriction of the aorta localized to the region of the transverse aortic arch." [] is_a: HP:0001680 ! Coarctation of aorta property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T17:07:47Z xsd:dateTime created_by: peter [Term] id: HP:0031054 name: Long segment coarctation of the aorta def: "Coarctation of the aorta is a narrowing or constriction of a long segment of the arch of the aorta." [PMID:23909637] is_a: HP:0001680 ! Coarctation of aorta property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T17:10:07Z xsd:dateTime created_by: peter [Term] id: HP:0031055 name: Abnormal branching pattern of left aortic arch def: "A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries, whereby the aortic arch descends on the left as normal (as opposed to right aortic arch)." [] is_a: HP:0011587 ! Abnormal branching pattern of the aortic arch property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T17:24:29Z xsd:dateTime created_by: peter [Term] id: HP:0031056 name: Fusiform cerebral aneurysm def: "A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery." [] synonym: "Intracranial fusiform aneurysm" EXACT [] is_a: HP:0004944 ! Dilatation of the cerebral artery property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T17:29:26Z xsd:dateTime created_by: peter [Term] id: HP:0031057 name: Skin fissure def: "A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis." [] synonym: "Cracked skin" EXACT layperson [] is_a: HP:0011355 ! Localized skin lesion property_value: http://purl.org/dc/elements/1.1/date 2017-05-27T17:57:13Z xsd:dateTime created_by: peter [Term] id: HP:0031058 name: Impairment of activities of daily living def: "Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure." [] is_a: HP:0025142 ! Constitutional symptom property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T22:14:33Z xsd:dateTime created_by: peter [Term] id: HP:0031059 name: Impaired ability to bathe oneself def: "This term applies to an individual who requires help to bathe more than one part of the body, get in or out of the tub or shower, or who requires total bathing." [PMID:10362969] is_a: HP:0031058 ! Impairment of activities of daily living property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T22:16:30Z xsd:dateTime created_by: peter [Term] id: HP:0031060 name: Impaired ability to dress oneself def: "This applies to an individual who needs help with dressing or needs to be completely dressed." [PMID:10362969] is_a: HP:0031058 ! Impairment of activities of daily living property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T22:21:14Z xsd:dateTime created_by: peter [Term] id: HP:0031061 name: Impaired toileting ability def: "This term applies to an individual who requires help transferring to the toilet, cleaning self or who uses bedpan or commode." [] is_a: HP:0031058 ! Impairment of activities of daily living property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T22:22:26Z xsd:dateTime created_by: peter [Term] id: HP:0031062 name: Impaired transferring ability def: "Applies to an individual who needs help in moving from bed to chair or requires a complete transfer." [PMID:10362969] is_a: HP:0031058 ! Impairment of activities of daily living property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T22:23:15Z xsd:dateTime created_by: peter [Term] id: HP:0031063 name: Impaired feeding ability def: "Applies to an individual who needs partial or total help with feeding or requires parenteral feeding." [] is_a: HP:0031058 ! Impairment of activities of daily living property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T22:24:24Z xsd:dateTime created_by: peter [Term] id: HP:0031064 name: Impaired continence def: "Partial or total incontinence of bowel or bladder." [] is_a: HP:0031058 ! Impairment of activities of daily living property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T22:29:13Z xsd:dateTime created_by: peter [Term] id: HP:0031065 name: Abnormal ovarian morphology is_a: HP:0000137 ! Abnormality of the ovary property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T22:32:58Z xsd:dateTime created_by: peter [Term] id: HP:0031066 name: Abnormal ovarian physiology def: "Any anomaly of ovarian function." [] is_a: HP:0000137 ! Abnormality of the ovary property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T22:33:50Z xsd:dateTime created_by: peter [Term] id: HP:0031067 name: Empty ovarian follicle def: "A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization." [PMID:19562053] comment: Empty follicle syndrome (EFS) has been defined as a condition in which no oocytes are retrieved from mature ovarian follicles with apparently normal follicular development and estradiol levels, after COH for an assisted reproductive technology (ART) cycle, despite repeated aspiration and flushing. synonym: "Empty follicle syndrome" RELATED [] is_a: HP:0031066 ! Abnormal ovarian physiology property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T22:37:49Z xsd:dateTime created_by: peter [Term] id: HP:0031068 name: Increased femoral torsion def: "Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion exceeds this range." [] is_a: HP:0031069 ! Abnormal femoral torsion property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T22:50:19Z xsd:dateTime created_by: peter [Term] id: HP:0031069 name: Abnormal femoral torsion def: "Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range." [] is_a: HP:0002823 ! Abnormality of femur morphology property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T22:59:20Z xsd:dateTime created_by: peter [Term] id: HP:0031070 name: Decreased femoral torsion def: "Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion is below this range." [] is_a: HP:0031069 ! Abnormal femoral torsion property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T22:59:52Z xsd:dateTime created_by: peter [Term] id: HP:0031071 name: Abnormal endocrine morphology def: "Any anomaly of the structure of an organ ofthe endocrine system." [] is_a: HP:0000818 ! Abnormality of the endocrine system property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T23:11:43Z xsd:dateTime created_by: peter [Term] id: HP:0031072 name: Abnormal endocrine physiology def: "Any anomaly of the function of the endocrine system." [] is_a: HP:0000818 ! Abnormality of the endocrine system property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T23:12:36Z xsd:dateTime created_by: peter [Term] id: HP:0031073 name: Abnormal response to endocrine stimulation test def: "An anomalous response to a test that is designed to probe the function of the endocrine system." [] is_a: HP:0031072 ! Abnormal endocrine physiology property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T23:14:39Z xsd:dateTime created_by: peter [Term] id: HP:0031074 name: Abnormal response to ACTH stimulation test def: "An anomolous response to stimulation by adminstration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline." [] comment: Corticotropin is another term for ACTH. synonym: "Abnormal response to adrenocorticotropic-hormone stimulation test" EXACT [] synonym: "Abnormal response to corticotropin stimulation test" EXACT [] is_a: HP:0031073 ! Abnormal response to endocrine stimulation test property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T23:15:41Z xsd:dateTime created_by: peter [Term] id: HP:0031075 name: Abnormal response to insulin tolerance test def: "An anomalous response to the insulin tolerance test (ITT), in which insulin is administered intravenously and blood glucose and potentially other compounds are measred at intervals. Insulin administration is intended to induce extreme hypoglycemia (bloodgluoce below 40 mg/dl), which in turn induces release of adrenocorticotropic hormone (ACTH) and growth hormone (GH). ACTH induces the adrenal gland to release cortisol, which together with GH opposes the action of insulin on the blood glucose level." [] is_a: HP:0031073 ! Abnormal response to endocrine stimulation test property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T23:17:20Z xsd:dateTime created_by: peter [Term] id: HP:0031076 name: Impaired cortisol response to insulin stimulation test def: "Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT)." [] is_a: HP:0031075 ! Abnormal response to insulin tolerance test property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T23:23:03Z xsd:dateTime created_by: peter [Term] id: HP:0031077 name: Abnormal response to corticotropin releasing hormone stimulation test def: "An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals." [] synonym: "Abnormal response to CRH stimulation test" EXACT HP:0045077 [] is_a: HP:0031073 ! Abnormal response to endocrine stimulation test property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T23:25:56Z xsd:dateTime created_by: peter [Term] id: HP:0031078 name: Impaired cortisol response to corticotropin releasing hormone stimulation test def: "Failure of cortisol levels to respond adequately (by increasing) to the corticotropin releasing hormone stimulation test." [] is_a: HP:0031077 ! Abnormal response to corticotropin releasing hormone stimulation test property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T23:29:58Z xsd:dateTime created_by: peter [Term] id: HP:0031079 name: Impaired growth-hormone response to insulin stimulation test def: "Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT)." [] is_a: HP:0031075 ! Abnormal response to insulin tolerance test property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T23:33:58Z xsd:dateTime created_by: peter [Term] id: HP:0031080 name: Abnormal response to glucagon stimulation test def: "An anomalous response to the glucagon stimulation test, which like the insulin tolerance test (ITT) stimulates the release of both adrenocorticotropic hormone (ACTH) and growth hormone (GH)." [] is_a: HP:0031072 ! Abnormal endocrine physiology property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T23:47:24Z xsd:dateTime created_by: peter [Term] id: HP:0031081 name: Impaired cortisol response to glucagon stimulation test def: "Failure of cortisol levels to respond adequately (by increasing) to the glucagon stimulation test." [] is_a: HP:0031080 ! Abnormal response to glucagon stimulation test property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T23:49:10Z xsd:dateTime created_by: peter [Term] id: HP:0031082 name: Impaired growth-hormone response to glucagon stimulation test def: "Failure of growth hormone levels to respond adequately (by increasing) to the glucagon stimulation test." [] is_a: HP:0031080 ! Abnormal response to glucagon stimulation test property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T23:49:45Z xsd:dateTime created_by: peter [Term] id: HP:0031083 name: Abnormal response to human chorionic gonadotrophin stimulation test def: "An anomalous response to intravenous stimulation by human chorionic gonadotrophin. Stimulation with hCG stimulates testicular Leydig cells to secrete androgens via the Leydig hormone receptors." [] synonym: "Abnormal response to hCG stimulation test" EXACT HP:0045077 [] is_a: HP:0031072 ! Abnormal endocrine physiology property_value: http://purl.org/dc/elements/1.1/date 2017-05-28T23:53:03Z xsd:dateTime created_by: peter [Term] id: HP:0031084 name: Excessive insulin response to glucagon test def: "An abnormally high increase in insulin levels following a glucagon stimulation test." [PMID:21791970] is_a: HP:0031080 ! Abnormal response to glucagon stimulation test property_value: http://purl.org/dc/elements/1.1/date 2017-05-29T00:02:23Z xsd:dateTime created_by: peter [Term] id: HP:0031085 name: Decreased prealbumin level def: "A reduced concentration of prealbumin in the blood. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status." [PMID:17138848] is_a: HP:0010876 ! Abnormal circulating protein level property_value: http://purl.org/dc/elements/1.1/date 2017-05-29T00:10:33Z xsd:dateTime created_by: peter [Term] id: HP:0031086 name: Ectopic ovary def: "Undescended or ectopic ovaries are characterized by the attachment of the upper pole of the ovary to an area above the level of the common iliac vessels." [PMID:12584384] synonym: "Undescended ovary" EXACT [] is_a: HP:0031065 ! Abnormal ovarian morphology property_value: http://purl.org/dc/elements/1.1/date 2017-05-29T00:18:01Z xsd:dateTime created_by: peter [Term] id: HP:0031087 name: Absent pubertal growth spurt def: "The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur." [] synonym: "Absent adolescent growth spurt" EXACT [] is_a: HP:0001510 ! Growth delay property_value: http://purl.org/dc/elements/1.1/date 2017-05-29T00:29:04Z xsd:dateTime created_by: peter [Term] id: HP:0031088 name: Vaginal dryness def: "Persistent vaginal dryness." [PMID:21702402] is_a: HP:0000142 ! Abnormal vagina morphology property_value: http://purl.org/dc/elements/1.1/date 2017-05-29T00:50:43Z xsd:dateTime created_by: peter [Term] id: HP:0031089 name: Palatal edema def: "Swelling related to fluid accumulation within the palate." [] synonym: "Palate edema" EXACT [] is_a: HP:0000174 ! Abnormal palate morphology property_value: http://purl.org/dc/elements/1.1/date 2017-05-29T00:54:26Z xsd:dateTime created_by: peter [Term] id: HP:0031090 name: Finger dactylitis def: "Fingers appear swollen and plump owing to inflammation of the complete finger." [] synonym: "Sausage fingers" EXACT layperson [] is_a: HP:0001167 ! Abnormality of finger property_value: http://purl.org/dc/elements/1.1/date 2017-05-29T00:57:56Z xsd:dateTime created_by: peter [Term] id: HP:0031091 name: Toe dactylitis def: "Toes appear swollen and plump owing to inflammation of the complete toe." [] synonym: "Sausage toes" EXACT layperson [] is_a: HP:0001780 ! Abnormality of toe property_value: http://purl.org/dc/elements/1.1/date 2017-05-29T01:00:10Z xsd:dateTime created_by: peter [Term] id: HP:0031092 name: Spindle-shaped finger def: "Swelling of the hand at the knuckles, that gives the fingers a spindle shape (i.e., a round stick with tapered end and a broader base)." [] is_a: HP:0001167 ! Abnormality of finger property_value: http://purl.org/dc/elements/1.1/date 2017-05-29T01:07:51Z xsd:dateTime created_by: peter [Term] id: HP:0031093 name: Abnormal breast morphology def: "Any anomaly of the structure of the breast." [] is_a: HP:0000769 ! Abnormality of the breast property_value: http://purl.org/dc/elements/1.1/date 2017-06-30T15:41:38Z xsd:dateTime created_by: robinp [Term] id: HP:0031094 name: Abnormal breast physiology def: "Any anomaly of the function of the breast." [] is_a: HP:0000769 ! Abnormality of the breast property_value: http://purl.org/dc/elements/1.1/date 2017-06-30T15:42:09Z xsd:dateTime created_by: robinp [Term] id: HP:0031095 name: Abnormal humerus morphology def: "Any anomaly of the structure of the humerus." [] is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0011314 ! Abnormality of long bone morphology is_a: HP:0040065 ! Abnormal morphology of bones of the upper limbs property_value: http://purl.org/dc/elements/1.1/date 2017-05-30T01:22:39Z xsd:dateTime created_by: peter [Term] id: HP:0031096 name: Delayed vertebral ossification def: "A decrease in the amount of mineralized bone in one or more vertebrae compared with that expected for a given developmental age." [] is_a: HP:0100569 ! Abnormally ossified vertebrae property_value: http://purl.org/dc/elements/1.1/date 2017-05-30T02:04:19Z xsd:dateTime created_by: peter [Term] id: HP:0031097 name: Abnormal thyroid-stimulating hormone level def: "Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland." [] synonym: "Abnormal circulating thyrotropin concentration" EXACT [] synonym: "Abnormal thyrotropin level" EXACT [] synonym: "Abnormal TSH level" EXACT HP:0045077 [] is_a: HP:0012503 ! Abnormality of the pituitary gland property_value: http://purl.org/dc/elements/1.1/date 2017-05-30T02:12:45Z xsd:dateTime created_by: peter [Term] id: HP:0031098 name: Decreased thyroid-stimulating hormone level def: "Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland." [] synonym: "Decreased plasma TSH" EXACT HP:0045077 [] synonym: "Decreased thyrotropin level" EXACT [] is_a: HP:0031097 ! Abnormal thyroid-stimulating hormone level property_value: http://purl.org/dc/elements/1.1/date 2017-05-30T02:13:11Z xsd:dateTime created_by: peter [Term] id: HP:0031099 name: Abnormal circulating inhibin level def: "Any deviation from the normal concentration of iInhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone." [PMID:12790766] is_a: HP:0003117 ! Abnormal circulating hormone level property_value: http://purl.org/dc/elements/1.1/date 2017-05-30T02:18:01Z xsd:dateTime created_by: peter [Term] id: HP:0031100 name: Decreased inhibin B level def: "A reduced concentration of inhibin B in the blood." [PMID:11720872] comment: Inhibin B, a dimer with an alpha and a betaB subunit, is produced exclusively by the testis and controls FSH secretion via a negative feedback mechanism. is_a: HP:0031099 ! Abnormal circulating inhibin level property_value: http://purl.org/dc/elements/1.1/date 2017-05-30T02:19:26Z xsd:dateTime created_by: peter [Term] id: HP:0031101 name: Abnormal antimullerian hormone level def: "Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases." [PMID:22693172] is_a: HP:0003117 ! Abnormal circulating hormone level property_value: http://purl.org/dc/elements/1.1/date 2017-05-30T02:34:22Z xsd:dateTime created_by: peter [Term] id: HP:0031102 name: Increased antimullerian hormone level def: "An elevation above the normal range of the antimullerian hormone in the circulation." [] synonym: "Increased plasma AMH" EXACT HP:0045077 [] is_a: HP:0031101 ! Abnormal antimullerian hormone level property_value: http://purl.org/dc/elements/1.1/date 2017-05-30T02:37:15Z xsd:dateTime created_by: peter [Term] id: HP:0031103 name: Decreased antimullerian hormone level def: "A reduction below the normal range of the antimullerian hormone in the circulation." [] synonym: "Decreased plasma AMH" EXACT HP:0045077 [] is_a: HP:0031101 ! Abnormal antimullerian hormone level property_value: http://purl.org/dc/elements/1.1/date 2017-05-30T02:37:50Z xsd:dateTime created_by: peter [Term] id: HP:0031104 name: Insulin receptor antibody positivity def: "The presence of autoantibodies (immunoglobulins) in the serum that react against the insulin receptor." [PMID:3280181] is_a: HP:0030057 ! Autoimmune antibody positivity property_value: http://purl.org/dc/elements/1.1/date 2017-05-30T02:42:21Z xsd:dateTime created_by: peter [Term] id: HP:0031105 name: Abnormal uterus morphology def: "Any anomaly of the structure of the uterus" [] is_a: HP:0000130 ! Abnormality of the uterus property_value: http://purl.org/dc/elements/1.1/date 2017-05-30T02:52:38Z xsd:dateTime created_by: peter [Term] id: HP:0031106 name: T-shaped uterus def: "An abnormality of the uterus characterized by a normal uterine outline but with an abnormal T-shaped uterine cavity with narrowing cavity due to thickened lateral walls with a correlation 2/3 uterine corpus and 1/3 cervix. The abnormlaity is said to resemble the letter T in hysterosalpingographic imaging." [PMID:23771171] is_a: HP:0031105 ! Abnormal uterus morphology property_value: http://purl.org/dc/elements/1.1/date 2017-05-30T02:53:49Z xsd:dateTime created_by: peter [Term] id: HP:0031107 name: Decreased fibular diameter def: "Reduced width of the cross sectional diameter of the fibula." [] synonym: "Thin fibula" EXACT [] is_a: HP:0002991 ! Abnormality of fibula morphology property_value: http://purl.org/dc/elements/1.1/date 2017-05-30T03:09:49Z xsd:dateTime created_by: peter [Term] id: HP:0031108 name: Triceps weakness def: "A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements." [] is_a: HP:0008997 ! Proximal muscle weakness in upper limbs property_value: http://purl.org/dc/elements/1.1/date 2017-06-09T10:13:45Z xsd:dateTime created_by: peter [Term] id: HP:0031109 name: Agalactia def: "Failure of secretion of milk following childbirth associated with an inability to breastfeed an infant." [] synonym: "Lactation incapacity" EXACT [] is_a: HP:0031094 ! Abnormal breast physiology property_value: http://purl.org/dc/elements/1.1/date 2017-06-30T15:43:23Z xsd:dateTime created_by: robinp [Term] id: HP:0031110 name: Twin-to-twin transfusion def: "As a result of sharing a single placenta, the blood supplies of monochorionic twin fetuses can become connected, so that they share blood circulation: although each fetus uses its own portion of the placenta, the connecting blood vessels within the placenta allow blood to pass from one twin to the other.Depending on the number, type and direction of the interconnecting blood vessels (anastomoses), blood can be transferred disproportionately from one twin (the donor) to the other (the recipient). This state of transfusion causes the donor twin to have decreased blood volume, retarding the donor's development and growth. The blood volume of the recipient twin is increased, which can strain the fetus's heart and eventually lead to heart failure." [PMID:19283655] synonym: "Twin to twin transfusion syndrome" RELATED [] is_a: HP:0001197 ! Abnormality of prenatal development or birth property_value: http://purl.org/dc/elements/1.1/date 2017-06-30T16:02:43Z xsd:dateTime created_by: robinp [Term] id: HP:0031111 name: Cutaneous hamartoma def: "A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin." [] synonym: "Skin hamartoma" EXACT [] is_a: HP:0010566 ! Hamartoma property_value: http://purl.org/dc/elements/1.1/date 2017-08-31T23:10:53Z xsd:dateTime created_by: robinp [Term] id: HP:0031117 name: Purely bicuspid aortic valve def: "A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis." [PMID:17467434] is_a: HP:0001647 ! Bicuspid aortic valve property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T11:41:29Z xsd:dateTime created_by: peter [Term] id: HP:0031118 name: Single raphe bicuspid aortic valve def: "A type of bicuspid aortic valvue (BAV) characterized by the presence of a single raphe that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps, resulting in two leaflets of unequal size." [PMID:17467434, PMID:24827036] is_a: HP:0001647 ! Bicuspid aortic valve property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T11:46:00Z xsd:dateTime created_by: peter [Term] id: HP:0031119 name: Bicuspid aortic valve with right-left cusp fusion def: "A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure." [PMID:17467434, PMID:24827036] is_a: HP:0031118 ! Single raphe bicuspid aortic valve property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T11:48:42Z xsd:dateTime created_by: peter [Term] id: HP:0031120 name: Bicuspid aortic valve with right-noncoronary cusp fusion def: "A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and noncoronary cusps (RN fusion pattern). This results in two leaflets with right-left leaflet orientation (also called the atypical pattern). There is thus one completely developed left cusp, two completely developed commissures, and one raphe between the underdeveloped right and noncoronary coronary cusps extending to the corresponding malformed commissure." [] is_a: HP:0031118 ! Single raphe bicuspid aortic valve property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T12:00:04Z xsd:dateTime created_by: peter [Term] id: HP:0031121 name: Bicuspid aortic valve with left-noncoronary cusp fusion def: "A type of bicuspid aortic valve (BAV) characterized by a single raphe between the left and noncoronary cusps (LN fusion pattern). There is thus one completely developed right cusp, two completely developed commissures, and one raphe between the underdeveloped left and noncoronary coronary cusps extending to the corresponding malformed commissure." [] is_a: HP:0031118 ! Single raphe bicuspid aortic valve property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T12:04:18Z xsd:dateTime created_by: peter [Term] id: HP:0031122 name: Two-raphe bicuspid aortic valve def: "A type of bicuspid aortic valvue (BAV) characterized by the presence of two raphes that each extend from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV has developmental anlagen of three cusps, commissures, and sinuses, but two commissures are more or less malformed and obliterated, giving rise to a raphe, a fibrous ridge, which extends from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV is typically associated with a high degree of aortic stenosis." [PMID:17467434] is_a: HP:0001647 ! Bicuspid aortic valve property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T12:06:51Z xsd:dateTime created_by: peter [Term] id: HP:0031123 name: Recurrent gastroenteritis def: "Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis." [] is_a: HP:0004798 ! Recurrent infection of the gastrointestinal tract property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T12:26:09Z xsd:dateTime created_by: peter [Term] id: HP:0031124 name: Decreased platelet thromboxane A2 receptor def: "Decreased cell membrane concentration of thromboxane A2 receptor that is stimulated by thromboxane A2 (TBXA2)." [] is_a: HP:0011878 ! Abnormal platelet membrane protein expression property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T12:30:08Z xsd:dateTime created_by: peter [Term] id: HP:0031125 name: Decreased platelet alpha-2A-adrenergic receptor def: "Decreased cell membrane concentration of alpha-2A adrenergic receptor that is stimulated by epinephrine." [] is_a: HP:0011878 ! Abnormal platelet membrane protein expression property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T12:30:42Z xsd:dateTime created_by: peter [Term] id: HP:0031126 name: Impaired clot retraction def: "Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration." [] is_a: HP:0011869 ! Abnormal platelet function property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T12:31:10Z xsd:dateTime created_by: peter [Term] id: HP:0031127 name: Impaired convulxin-induced platelet aggregation def: "Abnormal response to convulxin as manifested by reduced or lacking aggregation of platelets upon addition of convulxin." [] is_a: HP:0003540 ! Impaired platelet aggregation property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T12:31:53Z xsd:dateTime created_by: peter [Term] id: HP:0031128 name: Impaired collagen-related peptide-induced platelet aggregation def: "Abnormal response to collagen-related peptide (CRP) as manifested by reduced or lacking aggregation of platelets upon addition of CRP." [] is_a: HP:0003540 ! Impaired platelet aggregation property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T12:32:18Z xsd:dateTime created_by: peter [Term] id: HP:0031129 name: Impaired phorbol myristate acetate-induced platelet aggregation def: "Abnormal response to phorbol myristate acetate (PMA) as manifested by reduced or lacking aggregation of platelets upon addition of PMA." [] is_a: HP:0003540 ! Impaired platelet aggregation property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T12:32:36Z xsd:dateTime created_by: peter [Term] id: HP:0031130 name: Impaired calcium ionophore-induced platelet aggregation def: "Abnormal response to calcium Ionophore (such as A23187) as manifested by reduced or lacking aggregation of platelets upon addition of the ionophore." [] synonym: "Impaired Ca ionophore-induced platelet aggregation" EXACT HP:0045077 [] synonym: "Impaired Ca2+ ionophore-induced platelet aggregation" EXACT HP:0045077 [] is_a: HP:0003540 ! Impaired platelet aggregation property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T12:33:25Z xsd:dateTime created_by: peter [Term] id: HP:0031131 name: Abnormal platelet phosphatidylserine exposure def: "An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement." [PMID:12814644] is_a: HP:0011869 ! Abnormal platelet function property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T12:34:11Z xsd:dateTime created_by: peter [Term] id: HP:0031132 name: Impaired annexin V binding to platelet phosphatidylserine def: "Reduced binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry." [] is_a: HP:0031131 ! Abnormal platelet phosphatidylserine exposure property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T12:39:22Z xsd:dateTime created_by: peter [Term] id: HP:0031133 name: Increased annexin V binding to platelet phosphatidylserine def: "Elevated binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry." [] is_a: HP:0031132 ! Impaired annexin V binding to platelet phosphatidylserine property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T12:54:03Z xsd:dateTime created_by: peter [Term] id: HP:0031134 name: Cor triatrium sinister def: "A developmental anomaly of the heart characterizedby the presence of three atria because the left atrium is divided by an abnormal septum." [PMID:22379596] is_a: HP:0010774 ! Cor triatriatum property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T13:02:05Z xsd:dateTime created_by: peter [Term] id: HP:0031135 name: Triggered by physical trauma def: "Applies to a sign or symptom that is provoked or brought about by exposure to a trauma (injury to tissue)." [] synonym: "Physical trauma triggered symptoms" EXACT [] is_a: HP:0025204 ! Triggered by property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T13:29:55Z xsd:dateTime created_by: peter [Term] id: HP:0031136 name: Decreased acrosin in sperm head def: "A reduced amount of the enzyme acrosin in the sperm head acrosome. The acrosome is an organelle in the anterior half of the head of spermatozoa, and acrosin is a protease that contributes to the digestation of the zona pellucida in the fertilization process." [] is_a: HP:0012865 ! Sperm head anomaly property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T15:21:08Z xsd:dateTime created_by: peter [Term] id: HP:0031137 name: Storage in hepatocytes def: "Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material." [] is_a: HP:0410042 ! Abnormal liver morphology property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T15:30:13Z xsd:dateTime created_by: peter [Term] id: HP:0031138 name: Abnormal B-type natriuretic peptide level def: "A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP)." [PMID:22145138] comment: Increased plasma levels of circulating natriuretic peptides (NP) have been described in patients with congestive heart failure and are directly proportional to the severity of congestive heart failure as classified by the New York Heart Association criteria. is_a: HP:0010876 ! Abnormal circulating protein level property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T18:39:37Z xsd:dateTime created_by: peter [Term] id: HP:0031139 name: Frog-leg posture def: "A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog." [] is_a: HP:0001252 ! Muscular hypotonia property_value: http://purl.org/dc/elements/1.1/date 2017-06-10T22:38:18Z xsd:dateTime created_by: peter [Term] id: HP:0031140 name: Abnormal liver sonography def: "An abnormal appearance of the liver or any of its components on sonography (ultrasound)." [] is_a: HP:0410042 ! Abnormal liver morphology property_value: http://purl.org/dc/elements/1.1/date 2017-06-11T19:18:39Z xsd:dateTime created_by: peter [Term] id: HP:0031141 name: Increased hepatic echogenicity def: "Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device." [PMID:21472065] synonym: "Hyperechogenic liver" EXACT [] is_a: HP:0031142 ! Abnormal hepatic echogenicity property_value: http://purl.org/dc/elements/1.1/date 2017-06-11T19:19:59Z xsd:dateTime created_by: peter [Term] id: HP:0031142 name: Abnormal hepatic echogenicity def: "Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen)." [PMID:21472065] is_a: HP:0031140 ! Abnormal liver sonography property_value: http://purl.org/dc/elements/1.1/date 2017-06-11T19:20:52Z xsd:dateTime created_by: peter [Term] id: HP:0031143 name: Decreased hepatic echogenicity def: "Reduced echogenicity of liver tissue on sonography, manifested as an increased amount of black on the screen of the sonography device." [PMID:21472065] synonym: "Hypoechogenic liver" EXACT [] is_a: HP:0031142 ! Abnormal hepatic echogenicity property_value: http://purl.org/dc/elements/1.1/date 2017-06-11T19:23:55Z xsd:dateTime created_by: peter [Term] id: HP:0031144 name: Coarsened hepatic echotexture def: "The appearance of the liver in sonographic images is normally uniform. This term applies when there is an irregular or non-uniform appearance of the liver parenchyma in liver sonography." [] is_a: HP:0031140 ! Abnormal liver sonography property_value: http://purl.org/dc/elements/1.1/date 2017-06-11T19:31:31Z xsd:dateTime created_by: peter [Term] id: HP:0031145 name: Starry sky appearance on hepatic sonography def: "An abnormal echotexture visible in liver ultrasound manifesting as a diffuse hyperechoic liver echotexture with multiple, small hypoechoic lesions. The appearance is said to resemble a starry sky (multiple white spots on a dark background)." [PMID:26157918] is_a: HP:0031140 ! Abnormal liver sonography property_value: http://purl.org/dc/elements/1.1/date 2017-06-11T19:50:04Z xsd:dateTime created_by: peter [Term] id: HP:0031146 name: Impaired oral bolus formation def: "An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed." [PMID:16776766] is_a: HP:0002015 ! Dysphagia property_value: http://purl.org/dc/elements/1.1/date 2017-06-11T20:31:50Z xsd:dateTime created_by: peter [Term] id: HP:0031150 name: Vitreomacular adhesion def: "Perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features. It is an OCT finding that is almost always the result of normal vitreous aging, which may lead to pathologic conditions." [PMID:24053995] synonym: "VMA" EXACT HP:0045077 [] is_a: HP:0001103 ! Abnormal macular morphology property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T13:09:52Z xsd:dateTime created_by: peter [Term] id: HP:0031151 name: Vitreomacular traction def: "Vitreomacular traction is characterized by anomalous posterior vitreous detachment accompanied by anatomic distortion of the fovea, which may include pseudocysts, macular schisis, cystoid macular edema, and subretinal fluid. Vitreomacular traction can be subclassified by the diameter of vitreous attachment to the macular surface as measured by OCT, with attachment of 1500 micrometers or less defined as focal and attachment of more than 1500 micrometers as broad." [PMID:24053995] synonym: "VMT" EXACT HP:0045077 [] is_a: HP:0001103 ! Abnormal macular morphology property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T13:11:03Z xsd:dateTime created_by: peter [Term] id: HP:0031152 name: Full-thickness macular hole def: "Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction." [PMID:24053995] synonym: "FTMH" EXACT HP:0045077 [] is_a: HP:0011508 ! Macular hole property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T13:12:27Z xsd:dateTime created_by: peter [Term] id: HP:0031153 name: Membranous vitreous appearance def: "Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane." [PMID:20513134, PMID:21921955] synonym: "Membranous anomaly" EXACT [] synonym: "Membranous vitreous" EXACT [] synonym: "Membranous vitreous phenotype" EXACT [] is_a: HP:0004327 ! Abnormal vitreous humor morphology property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T13:16:01Z xsd:dateTime created_by: peter [Term] id: HP:0031154 name: Beaded vitreous appearance def: "Vitreous humor of the eye displaying beaded bundles of irregular diameters." [PMID:20513134, PMID:21921955] is_a: HP:0004327 ! Abnormal vitreous humor morphology property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T13:18:06Z xsd:dateTime created_by: peter [Term] id: HP:0031155 name: Increased Arden ratio of electrooculogram def: "An abnormal increase in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record." [] synonym: "Increased Arden ratio of EOG" EXACT HP:0045077 [] is_a: HP:0030454 ! Abnormal electrooculogram property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T13:19:50Z xsd:dateTime created_by: peter [Term] id: HP:0031156 name: Decreased platelet glycoprotein Ib def: "Decreased platelet cell membrane concentration of glycoprotein Ib." [PMID:11157507] is_a: HP:0011878 ! Abnormal platelet membrane protein expression property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T13:22:56Z xsd:dateTime created_by: peter [Term] id: HP:0031157 name: Carotid cavernous fistula def: "An abnormal connection between a carotid artery and the cavernous sinus." [PMID:23571267] comment: The cavernous sinus is a dural venous sinus in the skull that is adjacent to the temporal bone and the sphenoid bone. The carotid cavernous fistula is a type of arteriovenous fistula that causes arterial blood to enter the cavernous sinus. Clinical findings include head, ocular, and facial pain, pulsatile proptosis, chemosis, periorbital edema, conjunctival injection, double vision, glaucoma and, visual loss. synonym: "Caroticocavernous fistula" EXACT [] is_a: HP:0005344 ! Abnormal carotid artery morphology property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T13:31:58Z xsd:dateTime created_by: peter [Term] id: HP:0031158 name: Widened atrophic scar def: "An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility." [PMID:22353005] is_a: HP:0001075 ! Atrophic scars property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T13:39:46Z xsd:dateTime created_by: peter [Term] id: HP:0031159 name: Thinning of Descemet membrane def: "A reduction in the thickness of Descemet's membrane." [] is_a: HP:0011490 ! Abnormal Descemet membrane morphology property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T13:55:59Z xsd:dateTime created_by: peter [Term] id: HP:0031160 name: Myelokathexis def: "Impaired egress of mature neutrophils from bone marrow causing neutropenia." [PMID:10607719, PMID:25662009] comment: The word myelo-kathexis is derived from the Greek words for marrow (myelo) retention (kathexis). Unlike other forms of severe neutropenia, myelokathexis is characterized by granulocytic hyperplasia in the bone marrow, which contains neutrophils with cytoplasmic vacuoles, nuclear hypersegmentation, and pyknotic nuclear lobes connected by thin filaments. is_a: HP:0012135 ! Abnormal granulocytopoietic cell morphology property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T14:13:54Z xsd:dateTime created_by: peter [Term] id: HP:0031161 name: Reduced brain glutamate level by MRS def: "An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS)." [PMID:24123328] is_a: HP:0012705 ! Abnormal metabolic brain imaging by MRS property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T17:37:40Z xsd:dateTime created_by: peter [Term] id: HP:0031162 name: Impaired oropharyngeal swallow response def: "Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars." [PMID:27785002] comment: In the involuntary pharyngeal phase, the soft palate rises to close the nasopharynx and prevent nasal regurgitations. The hyoid bone rises, bringing the larynx up, while the epiglottis closes the entrance to the larynx. The base of the tongue contacts the pharyngeal wall, at the same time as the hyoid moves forward, coinciding with the relaxation of the cricopharyngeus muscle and the opening of the upper esophageal sphincter. is_a: HP:0002015 ! Dysphagia property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T17:51:36Z xsd:dateTime created_by: peter [Term] id: HP:0031163 name: Low femoral bone density def: "Reduced bone mineral density of the femur." [PMID:19580459] comment: Osteopenia is defined as BMD between 1 standard deviation (SD) and 2.5 SD below the mean of the young reference group. Osteoporosis is defined as BMD 2.5 SD or more below the mean of the young reference group. synonym: "Low femur bone density" EXACT [] is_a: HP:0002823 ! Abnormality of femur morphology property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T17:59:29Z xsd:dateTime created_by: peter [Term] id: HP:0031164 name: Growth arrest lines def: "Growth arrest lines are alternating transverse rings of sclerosis at the metaphysis of a long bone." [ORCID:0000-0003-0169-8159] synonym: "Growth resumption lines" EXACT [] synonym: "Harris lines" EXACT [] is_a: HP:0031367 ! Metaphyseal striations property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T18:03:33Z xsd:dateTime created_by: peter [Term] id: HP:0031165 name: Multifocal seizures def: "Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations)." [PMID:27091239] synonym: "Multifocal onset seizures" EXACT [] is_a: HP:0001250 ! Seizures property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T18:13:43Z xsd:dateTime created_by: peter [Term] id: HP:0031166 name: Eyelid myokymia def: "Involuntary, fine, continuous, undulating contractions of the eyelid." [] synonym: "Myokymia orbicularis" EXACT [] synonym: "Orbicularis myokymia" EXACT [] is_a: HP:0002411 ! Myokymia property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T19:03:22Z xsd:dateTime created_by: peter [Term] id: HP:0031167 name: Triggered by ingestion of potassium-rich food def: "Applies to a sign or symptom that is provoked or brought about by eating or drinking foods rich in potassium." [PMID:19472919] comment: In contrast to paramyotonia congenita or hyperkalaemic periodic paralysis, potassium-aggravated myotonias (PAM) patients show no muscle weakness and hardly any cold sensitivity. However, they show an aggravation of their myotonia after ingestion of potassium, which distinguishes them from patients with chloride channelopathies. synonym: "Potassium-rich food triggered symptoms" EXACT [] synonym: "Triggered by ingestion of K-rich food" EXACT HP:0045077 [] is_a: HP:0025204 ! Triggered by property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T19:18:01Z xsd:dateTime created_by: peter [Term] id: HP:0031169 name: Postterm pregnancy def: "A pregnancy that extends to 42 weeks of gestation or beyond." [PMID:24753906] comment: This term can apply to a child born of a postterm pregancy. is_a: HP:0001197 ! Abnormality of prenatal development or birth property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T19:54:05Z xsd:dateTime created_by: peter [Term] id: HP:0031170 name: Female fetal virilization def: "Fetal masculinization of female external genitalia." [] comment: This anomaly can be observed with etiologies including 21-hydroxylase deficiency, pregnancy luteomas, and maternal intake of progesterones. is_a: HP:0001197 ! Abnormality of prenatal development or birth property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T19:57:35Z xsd:dateTime created_by: peter [Term] id: HP:0031171 name: Femoral spur def: "A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck." [] synonym: "Spurring of femur" EXACT [] is_a: HP:0002823 ! Abnormality of femur morphology property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T20:02:20Z xsd:dateTime created_by: peter [Term] id: HP:0031172 name: Sectoral retinitis pigmentosa def: "A variant of retinitis pigmentosa in which there is a regional distribution of the retinal degeneration." [] is_a: HP:0000510 ! Rod-cone dystrophy property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T20:05:46Z xsd:dateTime created_by: peter [Term] id: HP:0031173 name: Tibial spur def: "A bony projection (spur, osteophyte) originating from the tibia." [] synonym: "Spurring of tibiae" EXACT [] is_a: HP:0002992 ! Abnormality of tibia morphology property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T20:06:57Z xsd:dateTime created_by: peter [Term] id: HP:0031174 name: Double-layered patella def: "An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood." [PMID:12525546, PMID:12966518] comment: This feature can be observed in Multiple epiphyseal dysplasia type 4. It is distinct from bipartite patella, which is characterized by an unfused accessory ossification center at the superolateral aspect of the patella. Double layer patella appears to be caused by the presence of several patellar ossification centers. is_a: HP:0003045 ! Abnormal patella morphology property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T20:08:32Z xsd:dateTime created_by: peter [Term] id: HP:0031175 name: Absent cervical vertebra def: "A developmental defect characterized by agenesis of one or more vertebral bodies of the cervical spine." [] is_a: HP:0008465 ! Absent vertebra property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T20:20:43Z xsd:dateTime created_by: peter [Term] id: HP:0031176 name: Absent thoracic vertebra def: "A developmental defect characterized by agenesis of one or more vertebral bodies of the thoracic spine." [] is_a: HP:0008465 ! Absent vertebra property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T20:20:53Z xsd:dateTime created_by: peter [Term] id: HP:0031177 name: Finger flexor weakness def: "Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion." [PMID:15668452] is_a: HP:0030237 ! Hand muscle weakness property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T20:25:24Z xsd:dateTime created_by: peter [Term] id: HP:0031178 name: Fixed head retroflexion def: "Head is bent in the posterior direction in a permanent fashion." [PMID:25288843] is_a: HP:0000234 ! Abnormality of the head property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T20:28:29Z xsd:dateTime created_by: peter [Term] id: HP:0031179 name: Nuchal rigidity def: "Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated." [PMID:12060874] comment: Meningism is resistance to neck flexion due to painful spasm of extensor muscles resulting from meningeal irritation. The diagnosis of meningism is made in someone whose symptoms simulate meningitis, but in which no actual inflammation of these membranes is present. Nuchal rigidity can thus be observed in individuals with meningitis or with meningism. synonym: "Meningism" RELATED [] is_a: HP:0005986 ! Limitation of neck motion property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T20:41:44Z xsd:dateTime created_by: peter [Term] id: HP:0031180 name: Erythema migrans def: "An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter)." [PMID:18452799] comment: Erythema migrans develops at the site of the deposition of Borrelia burgdorferi 7 to 14 days (range, 1-36 days) following the detachment of certain Ixodes ticks. The most important differential diagnosis is a localized and transient inflammatory reaction to the bite of an arthropod that is not associated with infection and resolves spontaneously within a day or two, and is usually less than 5 cm in size. synonym: "Erythema chronicum migrans" EXACT [] is_a: HP:0010783 ! Erythema property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T20:57:08Z xsd:dateTime created_by: peter [Term] id: HP:0031181 name: Necrolytic migratory erythema def: "Acral or periorificial lesions that evolve in recurrent crops, with an annular and migratory distribution." [PMID:20054043] comment: This feature can be a manifestation of glucagonoma and other cancers. is_a: HP:0010783 ! Erythema property_value: http://purl.org/dc/elements/1.1/date 2017-06-18T21:02:25Z xsd:dateTime created_by: peter [Term] id: HP:0031185 name: Increased NT-proBNP level def: "An elevated level of circulating N-terminal part of the prohormone of B-type natriuretic peptide (BNP)." [] is_a: HP:0031138 ! Abnormal B-type natriuretic peptide level property_value: http://purl.org/dc/elements/1.1/date 2017-06-21T10:30:21Z xsd:dateTime created_by: peter [Term] id: HP:0031186 name: Abnormal circulating deoxycorticosterone level def: "An abnormality of the concentration of deoxycorticosterone in the blood. Deoxycorticosterone comprises 11-deoxycorticosterone and 21-deoxycorticosterone." [] is_a: HP:0012112 ! Abnormal circulating corticosterone level property_value: http://purl.org/dc/elements/1.1/date 2017-06-21T10:39:27Z xsd:dateTime created_by: peter [Term] id: HP:0031187 name: Abnormality of circulating pregnenolone level def: "An abnormality of the concentration of pregnenolone in the blood." [PMID:24849255] comment: Neurosteroids are steroids synthesized within the central nervous system as well as in other steroidogenic organs/tissues. In contrary with the classical actions through intracellular receptors, extensive evidence has established that neurosteroids can exert rapid, potent actions at the cell membrane via allosteric interactions with the GABAA receptor. Pregnenolone is a naturally occurring neurosteroid directly metabolized from cholesterol and the precursor of virtually all neurosteroids. is_a: HP:0003117 ! Abnormal circulating hormone level property_value: http://purl.org/dc/elements/1.1/date 2017-06-21T10:45:33Z xsd:dateTime created_by: peter [Term] id: HP:0031188 name: Genital edema def: "A buildup of fluid that causes swelling in the soft tissues of the genital area." [] synonym: "Genital oedema" EXACT HP:0045076 [] is_a: HP:0000969 ! Edema property_value: http://purl.org/dc/elements/1.1/date 2017-06-24T12:59:46Z xsd:dateTime created_by: peter [Term] id: HP:0031189 name: Wrist drop def: "A condition in which the affected individual cannot extend the wrist, which hangs flaccidly." [] comment: Wrist drop can be caused by radial nerve palsy. is_a: HP:0003484 ! Upper limb muscle weakness property_value: http://purl.org/dc/elements/1.1/date 2017-06-24T13:25:58Z xsd:dateTime created_by: peter [Term] id: HP:0031190 name: Superficial dermal perivascular inflammatory infiltrate def: "Numerous lymphocytes surrounding blood vessels in the superfical part of the dermis." [] synonym: "Superficial perivascular inflammatory infiltrate" EXACT [] is_a: HP:0011123 ! Inflammatory abnormality of the skin property_value: http://purl.org/dc/elements/1.1/date 2017-06-24T14:01:24Z xsd:dateTime created_by: peter [Term] id: HP:0031191 name: Deep dermal perivascular inflammatory infiltrate def: "Numerous lymphocytes surrounding blood vessels in the deep part of the dermis." [] synonym: "Deep perivascular inflammatory infiltrate" EXACT [] is_a: HP:0011123 ! Inflammatory abnormality of the skin property_value: http://purl.org/dc/elements/1.1/date 2017-06-24T14:07:03Z xsd:dateTime created_by: peter [Term] id: HP:0031192 name: Abnormal morphology of left ventricular trabeculae def: "Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae)." [] is_a: HP:0030681 ! Abnormal morphology of myocardial trabeculae property_value: http://purl.org/dc/elements/1.1/date 2017-06-24T14:10:09Z xsd:dateTime created_by: peter [Term] id: HP:0031193 name: Abnormal morphology of right ventricular trabeculae def: "Any structural anomaly of the muscular columns which project from the inner surface of the right ventricle of the heart (cardiac trabeculae, trabeculae carneae)." [] is_a: HP:0030681 ! Abnormal morphology of myocardial trabeculae property_value: http://purl.org/dc/elements/1.1/date 2017-06-24T14:10:16Z xsd:dateTime created_by: peter [Term] id: HP:0031194 name: Increased density of left ventricular trabeculae def: "An increased denisty (number and tightness) of the muscular columns which project from the inner surface of the left ventricles of the heart (cardiac trabeculae, trabeculae carneae)." [] is_a: HP:0031192 ! Abnormal morphology of left ventricular trabeculae property_value: http://purl.org/dc/elements/1.1/date 2017-06-24T14:13:54Z xsd:dateTime created_by: peter [Term] id: HP:0031195 name: Apical hypertrabeculation of the left ventricle def: "An increased number and denisty of the trabeculae in the apex (tip) of the left ventricle." [] is_a: HP:0031192 ! Abnormal morphology of left ventricular trabeculae property_value: http://purl.org/dc/elements/1.1/date 2017-06-24T14:15:22Z xsd:dateTime created_by: peter [Term] id: HP:0031196 name: Thin myocardium compact layer def: "Reduced thickness of the outer, dense layer of the myocardium." [] comment: The myocardium compact layer is only in the left ventricle. is_a: HP:0031192 ! Abnormal morphology of left ventricular trabeculae property_value: http://purl.org/dc/elements/1.1/date 2017-06-24T14:16:07Z xsd:dateTime created_by: peter [Term] id: HP:0031197 name: Cellular urinary casts def: "A type of urinary cast composed of cells incorporated in a protein matrix. The cells can be those found in the urinary sediment (erythrocytes, leuklocytes, renal tubular epithelial cells)." [] is_a: HP:0012615 ! Cylindruria property_value: http://purl.org/dc/elements/1.1/date 2017-06-27T10:50:11Z xsd:dateTime created_by: peter [Term] id: HP:0031198 name: Renal tubular epithelial cell casts def: "A type of cellular urinary cast composed of renal tubular epithelial cells." [] comment: Renal tubular epithelial cell casts can be observed in disorders including renal tubular necrosis, cytomegalovirus and other viral infections, kidney transplant rejection. is_a: HP:0031197 ! Cellular urinary casts property_value: http://purl.org/dc/elements/1.1/date 2017-06-27T10:53:27Z xsd:dateTime created_by: peter [Term] id: HP:0031199 name: Acellular urinary casts def: "A type of urinary cast composed of a proteinaceous matrix without a substantial number of cells." [] is_a: HP:0012615 ! Cylindruria property_value: http://purl.org/dc/elements/1.1/date 2017-06-27T10:55:36Z xsd:dateTime created_by: peter [Term] id: HP:0031200 name: Hyaline casts def: "A type of acellular urinary cast that are composed only of Tamm-Horsfall glycoprotein, a fact which explains their low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends." [PMID:26079824] is_a: HP:0031199 ! Acellular urinary casts property_value: http://purl.org/dc/elements/1.1/date 2017-06-27T11:00:48Z xsd:dateTime created_by: peter [Term] id: HP:0031201 name: Granular casts def: "A type of acelluar casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented." [PMID:26079824] comment: It has been demonstrated that in patients with proteinuria, fine granules contain ultrafiltered proteins which have been reabsorbed by tubular cells, whilst in non-proteinuric patients coarse granules probably derive from the degeneration of cellular elements, such as leukocytes and renal epithelial cells present in the tubular lumen during cast formation. is_a: HP:0031199 ! Acellular urinary casts property_value: http://purl.org/dc/elements/1.1/date 2017-06-27T11:06:58Z xsd:dateTime created_by: peter [Term] id: HP:0031202 name: Waxy casts def: "A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts." [PMID:26079824] is_a: HP:0031199 ! Acellular urinary casts property_value: http://purl.org/dc/elements/1.1/date 2017-06-27T11:08:35Z xsd:dateTime created_by: peter [Term] id: HP:0031203 name: Fatty casts def: "A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses." [PMID:26079824] comment: The presence of fatty casts in urine may be associated with heavy proteinuria in patients with nephrotic syndrome. is_a: HP:0031199 ! Acellular urinary casts property_value: http://purl.org/dc/elements/1.1/date 2017-06-27T11:10:06Z xsd:dateTime created_by: peter [Term] id: HP:0031204 name: Bacterial cell casts def: "A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection." [PMID:26079824] is_a: HP:0012615 ! Cylindruria property_value: http://purl.org/dc/elements/1.1/date 2017-06-27T11:12:00Z xsd:dateTime created_by: peter [Term] id: HP:0031205 name: Reduced lysosomal acid lipase activity def: "Reduction in the activity of lysosomal acid lipase (LAL) in the blood. Lysosomal lipase activity is measured. LAL hydrolyzes cholesteryl esters derived from cell internalization of plasma lipoproteins." [PMID:22227072] comment: Samples from patients with Wolman Disease display extremely low or unmeasurable levels of lysosomal acid lipase (LAL) activity. Samples from patients with cholesteryl ester storage disease can display residual activities in the 5 to ten percent range. synonym: "Reduced leukocyte acid lipase activity" EXACT [] is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity property_value: http://purl.org/dc/elements/1.1/date 2017-06-29T11:32:13Z xsd:dateTime created_by: peter [Term] id: HP:0031206 name: Striatal T2 hyperintensity def: "Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging." [PMID:27058447] is_a: HP:0010994 ! Abnormal corpus striatum morphology property_value: http://purl.org/dc/elements/1.1/date 2017-06-29T12:15:29Z xsd:dateTime created_by: peter [Term] id: HP:0031207 name: Hepatic hemangioma def: "A congenital vascular malformation in the liver composed of masses of blood vessels that are atypical or irregular in arrangement and size." [NCIT:C3869, PMID:21191518] comment: Hepatic hemangiomas are considered the most common benign mesenchymal hepatic tumors. They can be divided into two major groups: capillary hemangiomas and cavernous hemangiomas. synonym: "Hemangioma of the liver" EXACT [] synonym: "Liver hemangioma" EXACT [] is_a: HP:0002896 ! Neoplasm of the liver is_a: HP:0410266 ! Visceral hemangioma property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T10:39:07Z xsd:dateTime created_by: peter [Term] id: HP:0031208 name: Increased pituitary glycoprotein hormone alpha subunit level def: "An increased concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones." [] synonym: "Increased pituitary glycoprotein alpha subunit level" EXACT [] synonym: "Increased pituitary glycoprotein polypeptide alpha subunit level" EXACT [] is_a: HP:0032481 ! Abnormal pituitary glycoprotein hormone alpha subunit level property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T10:50:16Z xsd:dateTime created_by: peter [Term] id: HP:0031209 name: Decreased lipoprotein lipase activity def: "Reduction in the activity of lipoprotein lipase in the blood." [PMID:18194851] comment: Decreased plasma lipoprotein lipase activity is associated with delayed clearance of triglyceride-rich lipoproteins and low fasting HDL cholesterol. is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T10:57:10Z xsd:dateTime created_by: peter [Term] id: HP:0031210 name: Abnormal circulating hyaluronic acid concentration def: "A deviation from the normal concentration of hyaluronic acid in the blood." [PMID:11861239] comment: Serum hyaluronic acid (HA) is considered to be a marker of liver function. HA is a glycosaminoglycan that is rapidly cleared from the circulation by the liver via receptor mediated endocytosis into sinusoidal endothelial cells. is_a: HP:0011012 ! Abnormal circulating polysaccharide concentration property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T11:00:02Z xsd:dateTime created_by: peter [Term] id: HP:0031211 name: Elevated cholesterol ester level alt_id: HP:0500010 def: "An elevated concentration of circulating cholesterol esters, which are fatty acid esters of cholesterol and make up about two-thirds of total plasma cholesterol." [] comment: The accumulation of cholesterol esters in the arterial intima is a characteristic feature of atherosclerosis. synonym: "Elevated cholesteryl ester level" EXACT [] synonym: "Increased cholesterol esters" EXACT [] synonym: "Increased cholesteryl esters" EXACT [] is_a: HP:0003107 ! Abnormal circulating cholesterol concentration property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T11:04:47Z xsd:dateTime created_by: peter [Term] id: HP:0031212 name: Abnormal circulating progesterone level is_a: HP:0003117 ! Abnormal circulating hormone level is_a: HP:0008373 ! Puberty and gonadal disorders property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T11:20:51Z xsd:dateTime created_by: peter [Term] id: HP:0031213 name: Elevated circulating 17-hydroxyprogesterone def: "An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase." [] comment: An inherited deficiency of 21-hydroxylase leads to greatly increased serum concentrations of 17-hydroxyprogesterone (17-OHP), while the absence of cortisol synthesis causes an increase in adrenocorticotrophic hormone. Moderately increased levels of 17-OHP may indicate an 11-beta-hydroxylase deficiency. synonym: "Elevated circulating 17-OHP" EXACT HP:0045077 [] is_a: HP:0031212 ! Abnormal circulating progesterone level property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T11:21:36Z xsd:dateTime created_by: peter [Term] id: HP:0031214 name: Decreased circulating dehydroepiandrosterone level comment: A reduced concentration of dehydroepiandrosterone in the blood. dehydroepiandrosterone is a weak androgen produced by the adrenal glands in both males and females. is_a: HP:0003117 ! Abnormal circulating hormone level property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T11:29:06Z xsd:dateTime created_by: peter [Term] id: HP:0031215 name: Decreased circulating dehydroepiandrosterone-sulfate level def: "A reduced concentration of dehydroepiandrosterone-sulfate in the blood." [] comment: DHEA is transformed into DHEA-S by sulfation at the C3beta position by sulfotransferase SULT2A1. is_a: HP:0003117 ! Abnormal circulating hormone level property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T11:31:34Z xsd:dateTime created_by: peter [Term] id: HP:0031216 name: Increased circulating progesterone def: "An elevated concentration of progesterone in the blood." [] is_a: HP:0031212 ! Abnormal circulating progesterone level property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T11:33:47Z xsd:dateTime created_by: peter [Term] id: HP:0031217 name: Hot flashes def: "Sudden feelings of warmth that are generally most pronounced over the face, neck and chest." [] comment: Hot flashes are most commonly due to menopause but may be observed with other conditions. is_a: HP:0025142 ! Constitutional symptom property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T11:38:24Z xsd:dateTime created_by: peter [Term] id: HP:0031218 name: Inappropriate antidiuretic hormone secretion def: "A state of increased circulating antidiuretic hormone despite hyponatremia and hypo-osmolality with normal or increased plasma volume." [] comment: Common etiologies of inappropriate antidiuretic hormone (ADH) secretion include nervous system disease, cancer, pulmonary disease, and as a side effect of a medication. This term is meant to refer to the inappropriately high level of ADH and not to the full syndrome of inappropriate antidiuretic hormone secretion (SIADH), which is considered a disease entity rather than a phenotypic feature. synonym: "Inappropriate ADH secretion" EXACT HP:0045077 [] synonym: "SIADH" RELATED HP:0045077 [] synonym: "Syndrome of inappropriate antidiuretic hormone secretion" RELATED [] is_a: HP:0031072 ! Abnormal endocrine physiology property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T11:46:17Z xsd:dateTime created_by: peter [Term] id: HP:0031219 name: Reduced radioactive iodine uptake def: "A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker." [] is_a: HP:0031221 ! Abnormal radioactive iodine uptake test result property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T11:55:22Z xsd:dateTime created_by: peter [Term] id: HP:0031220 name: Increased radioactive iodine uptake def: "An elevated amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker." [] is_a: HP:0031221 ! Abnormal radioactive iodine uptake test result property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T11:59:53Z xsd:dateTime created_by: peter [Term] id: HP:0031221 name: Abnormal radioactive iodine uptake test result def: "Any deviation from normal in the amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker." [] is_a: HP:0002926 ! Abnormality of thyroid physiology property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T12:00:25Z xsd:dateTime created_by: peter [Term] id: HP:0031222 name: Increased circulating thyroxine-binding globulin level def: "An elevated concentration of thyroxine-binding globulin (TBG) in the blood." [] comment: Thyroxine-binding globulin is one of the proteins that binds thyroid hormones in the circulation. is_a: HP:0010876 ! Abnormal circulating protein level property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T12:03:22Z xsd:dateTime created_by: peter [Term] id: HP:0031223 name: Focal pancreatic islet hyperplasia def: "Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others." [] is_a: HP:0004510 ! Pancreatic islet-cell hyperplasia property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T12:06:09Z xsd:dateTime created_by: peter [Term] id: HP:0031224 name: Diffuse pancreatic islet hyperplasia def: "Hyperplasia of the islets of Langerhans with a generalized distribution." [] is_a: HP:0004510 ! Pancreatic islet-cell hyperplasia property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T12:06:09Z xsd:dateTime created_by: peter [Term] id: HP:0031225 name: Intrapulmonary shunt def: "Blood flow through a region of the lung in which little or no ventilation takes place, resulting in reduced oxygenation of the blood leaving the lungs." [] comment: Intrapulmonary shunt may be a result of blood flow through collapsed alveoli, tumors, arteriovenous pathways,and other conditions. synonym: "Intrapulmonary shunting" EXACT [] is_a: HP:0030875 ! Abnormality of pulmonary circulation property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T12:12:01Z xsd:dateTime created_by: peter [Term] id: HP:0031226 name: Perinephric fluid collection def: "An accumulation of fluid in one or more of the perinephric spaces, which consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. This abnormality can be demonstrated by cross-sectional imaging, particularly computed tomography." [PMID:12014928] is_a: HP:0012210 ! Abnormal renal morphology property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T12:16:46Z xsd:dateTime created_by: peter [Term] id: HP:0031227 name: Nasopharyngeal teratoma def: "A teratoma arising in the nasopharyngeal region." [PMID:23056797] comment: Nasopharyngeal teratoma is histologically benign, but can cause considerable morbidity and mortality because of the location. Nasopharyngeal teratoma represents one of the most unusual causes of respiratory distress during the neonatal period. is_a: HP:0009792 ! Teratoma property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T12:40:40Z xsd:dateTime created_by: peter [Term] id: HP:0031228 name: Abnormal incisura morphology def: "An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus." [PMID:20082456] is_a: HP:0011039 ! Abnormality of the helix property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T12:57:09Z xsd:dateTime created_by: peter [Term] id: HP:0031229 name: Increased incisura length def: "The length of the incisura from the upper to lower border is greater than that observed in the average population." [PMID:20082456] is_a: HP:0031228 ! Abnormal incisura morphology property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T12:58:49Z xsd:dateTime created_by: peter [Term] id: HP:0031230 name: Decreased incisura length def: "The length of the incisura from the upper to lower border is less than that observed in the average population." [PMID:20082456] is_a: HP:0031228 ! Abnormal incisura morphology property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T13:00:15Z xsd:dateTime created_by: peter [Term] id: HP:0031231 name: Narrow incisura width def: "Width of the incisura from the anterior to posterior border less than that observed in the average population." [PMID:20082456] is_a: HP:0031228 ! Abnormal incisura morphology property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T13:00:49Z xsd:dateTime created_by: peter [Term] id: HP:0031232 name: Increased incisura width def: "Breadth of the incisura from the anterior to posterior border greater than that observed in the average population." [PMID:20082456] comment: This aspect may be difficult to assess in instances where the anterior and posterior walls of the incisura are not parallel. is_a: HP:0031228 ! Abnormal incisura morphology property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T13:02:22Z xsd:dateTime created_by: peter [Term] id: HP:0031233 name: Horizontal inferior border of scapula def: "A morphological abnormality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape)." [PMID:24706940] synonym: "Squaring of the inferior scapulae" EXACT HP:0045078 [] synonym: "Squaring of the scapula" EXACT [] is_a: HP:0000782 ! Abnormality of the scapula property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T13:23:17Z xsd:dateTime created_by: peter [Term] id: HP:0031234 name: Neutrophilic infiltration of the skin def: "A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin)." [] is_a: HP:0011123 ! Inflammatory abnormality of the skin property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T19:34:51Z xsd:dateTime created_by: peter [Term] id: HP:0031235 name: Predominantly epidermal neutrophilic infiltrate def: "Collection of neutrophils in the epidermis." [PMID:17675728] comment: This feature can be seen in a variety of conditions ranging from inflammatory dermatosis like psoriasis, neonatal disorders e.g. transient neonatal pustular melanosis to neoplasms viz. keratoacanthoma. is_a: HP:0031234 ! Neutrophilic infiltration of the skin property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T19:36:13Z xsd:dateTime created_by: peter [Term] id: HP:0031236 name: Predominantly dermal neutrophilic infiltrate def: "Collection of neutrophils in the dermis." [PMID:17675728] is_a: HP:0031234 ! Neutrophilic infiltration of the skin property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T19:38:07Z xsd:dateTime created_by: peter [Term] id: HP:0031237 name: Internally nucleated skeletal muscle fibers def: "An abnormality in which the nuclei of sarcomeres take on an abnormally internal localization (or in which this feature is found in an increased proportion of muscle cells)." [PMID:22938878] comment: A normal muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5 percent of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei. is_a: HP:0004303 ! Abnormal muscle fiber morphology property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T20:11:21Z xsd:dateTime created_by: peter [Term] id: HP:0031238 name: Necklace skeletal muscle fibers def: "A histological alteration of muscle fibers that resembles a necklace (necklace fibers). A substantial proportion of fibers (4-20% in PMID:19084976) show internalized nuclei aligned in a basophilic ring (necklace) at 3 micrometers beneath the sarcolemma. Ultrastructurally, such necklaces consist of myofibrils of smaller diameter, in oblique orientation, surrounded by mitochondria, sarcoplasmic reticulum and glycogen granules." [PMID:19084976] is_a: HP:0004303 ! Abnormal muscle fiber morphology property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T20:13:20Z xsd:dateTime created_by: peter [Term] id: HP:0031239 name: Extrafoveal choroidal neovascularization def: "A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 200 to 1500 micrometers from the center of the fovea." [] is_a: HP:0011506 ! Choroidal neovascularization property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T20:22:07Z xsd:dateTime created_by: peter [Term] id: HP:0031240 name: Juxtafoveal choroidal neovascularization def: "A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 1 to 199 micrometers from the center of the fovea." [] is_a: HP:0011506 ! Choroidal neovascularization property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T21:26:56Z xsd:dateTime created_by: peter [Term] id: HP:0031241 name: Subfoveal choroidal neovascularization def: "A type of choroidal neovascularization in which the area of neovascularization overlaps with the center of the fovea." [] is_a: HP:0011506 ! Choroidal neovascularization property_value: http://purl.org/dc/elements/1.1/date 2017-07-02T21:27:51Z xsd:dateTime created_by: peter [Term] id: HP:0031242 name: Decreased circulating chylomicron concentration def: "Reduced plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins." [] synonym: "Decreased circulating chylomicron levels" EXACT [] synonym: "Hypochylomicronemia" EXACT [] is_a: HP:0010981 ! Hypolipoproteinemia is_a: HP:0031887 ! Abnormal chylomicron concentration property_value: http://purl.org/dc/elements/1.1/date 2017-08-08T11:26:34Z xsd:dateTime created_by: peter [Term] id: HP:0031243 name: Decreased VLDL cholesterol concentration def: "A reduction in the amount of very-low-density lipoprotein cholesterol in the blood." [] synonym: "Decreased circulating very-low-density lipoprotein levels" EXACT [] is_a: HP:0010981 ! Hypolipoproteinemia is_a: HP:0031889 ! Abnormal VLDL cholesterol concentration property_value: http://purl.org/dc/elements/1.1/date 2017-08-08T11:27:32Z xsd:dateTime created_by: peter [Term] id: HP:0031244 name: Swollen lip def: "Enlargement of the lip typically due to fluid buildup or inflammation." [ORCID:0000-0001-5208-3432] synonym: "Swelling of the lip" EXACT [] is_a: HP:0000159 ! Abnormal lip morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T13:02:05Z xsd:dateTime created_by: peter [Term] id: HP:0031245 name: Productive cough def: "A cough that produces phlegm or mucus." [] synonym: "Wet cough" EXACT layperson [] is_a: HP:0012735 ! Cough property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T13:19:10Z xsd:dateTime created_by: peter [Term] id: HP:0031246 name: Nonproductive cough def: "A cough that does not produce phlegm or mucus." [] synonym: "Dry cough" EXACT layperson [] synonym: "Dry coughing" EXACT [] is_a: HP:0012735 ! Cough property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T13:19:10Z xsd:dateTime created_by: peter [Term] id: HP:0031247 name: Whooping cough def: "A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air." [PMID:24219484] comment: The term whooping cough is usually used to describe the disease caused by infection of the respiratory tract with Bordatella pertussis. This HPO term refers to the major symptom of that disease. is_a: HP:0012735 ! Cough property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T13:22:51Z xsd:dateTime created_by: peter [Term] id: HP:0031248 name: Palmar pruritus def: "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand." [ORCID:0000-0001-5208-3432] synonym: "Itchy palm" EXACT layperson [] is_a: HP:0030899 ! Pruritis on hand property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T13:33:52Z xsd:dateTime created_by: peter [Term] id: HP:0031249 name: Parageusia def: "A distortion of the sense of taste, often characterized by the sensation of a metallic taste." [PMID:21075995] synonym: "Dysgeusia" EXACT [] synonym: "Metallic taste" EXACT layperson [] synonym: "Metallic taste in mouth" EXACT HP:0045077 [] is_a: HP:0000223 ! Abnormality of taste sensation property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T13:35:52Z xsd:dateTime created_by: peter [Term] id: HP:0031250 name: Lip fissure def: "A severe crack in a lip. A lip fissure may be painful, may bleed and often is a recurring manifestation." [] is_a: HP:0000159 ! Abnormal lip morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T15:27:51Z xsd:dateTime created_by: peter [Term] id: HP:0031251 name: Abnormal subclavian artery morphology def: "Any anomaly of a subclavian artery." [] comment: The left and right subclavian arteries supply blood to the posterior cerebral circulation, cerebellum, posterior neck, upper limbs and the superior and anterior chest wall. The right subclavian artery is a terminal branch of the brachiocephalic artery,and the left subclavian artery is the third branch of the aortic arch (following the left common carotid artery). is_a: HP:0011004 ! Abnormal systemic arterial morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T15:35:44Z xsd:dateTime created_by: peter [Term] id: HP:0031252 name: Dilated left subclavian artery def: "Abnormally increased caliber of the left subclavian artery." [] is_a: HP:0031251 ! Abnormal subclavian artery morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T15:38:14Z xsd:dateTime created_by: peter [Term] id: HP:0031253 name: Anomalous origin of left subclavian artery def: "Origin of the left subclavian artery from an anomalous anatomical location." [] is_a: HP:0031251 ! Abnormal subclavian artery morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T15:41:19Z xsd:dateTime created_by: peter [Term] id: HP:0031254 name: Thalamic arteriovenous malformation def: "An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the thalamus." [PMID:23125071] is_a: HP:0010663 ! Abnormality of thalamus morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T15:44:28Z xsd:dateTime created_by: peter [Term] id: HP:0031255 name: Hypothalamic arteriovenous malformation def: "An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the hypothalamus." [PMID:23125071] is_a: HP:0012286 ! Abnormal hypothalamus morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T15:49:25Z xsd:dateTime created_by: peter [Term] id: HP:0031256 name: Optic nerve arteriovenous malformation def: "An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the optic nerve." [PMID:23125071] is_a: HP:0000587 ! Abnormality of the optic nerve property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T15:51:08Z xsd:dateTime created_by: peter [Term] id: HP:0031257 name: Arteriovenous malformation of the maxilla def: "An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the maxilla." [PMID:17082338, PMID:23125071] comment: This abnormality may be accompanied by gingival swelling adjacent to the affected maxilla as well as by loosening of nearby teeth. Radiographic examination mayreveal a lytic lesion of the maxilla. is_a: HP:0000326 ! Abnormality of the maxilla property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T15:53:52Z xsd:dateTime created_by: peter [Term] id: HP:0031258 name: Delirium def: "A state of sudden and severe confusion." [] is_a: HP:0001289 ! Confusion property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T16:00:36Z xsd:dateTime created_by: peter [Term] id: HP:0031259 name: Oophoritis def: "An inflammation of the ovary or ovaries." [] synonym: "Inflammed ovary" EXACT layperson [] is_a: HP:0031065 ! Abnormal ovarian morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T16:02:34Z xsd:dateTime created_by: peter [Term] id: HP:0031260 name: Triangular tibia def: "A short, dysplastic tibia with a triangular shape. Instead of the normal shaft configuration of the tibia, the tibia forms a triangle with the longest side corresponding to the proximal-distal dimension, and the apex of the triangle diected laterally (See Figure 2 of PMID:18616733)." [] xref: PMID:18616733 is_a: HP:0002992 ! Abnormality of tibia morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T16:09:34Z xsd:dateTime created_by: peter [Term] id: HP:0031261 name: Bladder polyp def: "An abnormal growth that projects from the mucous membrane of the urinary bladder." [] is_a: HP:0025487 ! Abnormality of bladder morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T16:13:31Z xsd:dateTime created_by: peter [Term] id: HP:0031263 name: Abnormal renal corpuscle morphology def: "Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule." [] is_a: HP:0011035 ! Abnormal renal cortex morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T18:30:25Z xsd:dateTime created_by: peter [Term] id: HP:0031264 name: Abnormal morphology of Bowman capsule def: "A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule." [] synonym: "Abnormal renal glomerular capsule morphology" EXACT [] is_a: HP:0031263 ! Abnormal renal corpuscle morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T18:34:59Z xsd:dateTime created_by: peter [Term] id: HP:0031265 name: Abnormal podocyte morphology def: "Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary." [PMID:10662721] is_a: HP:0031264 ! Abnormal morphology of Bowman capsule property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T18:36:29Z xsd:dateTime created_by: peter [Term] id: HP:0031266 name: Podocyte foot process effacement def: "An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier." [PMID:23235479] comment: Two stages of podocyte foot process effacement (FPE) may clearly be distinguished. Within the first stage, foot processes undergo tremendous changes in shape, losing their regular interdigitating pattern and retracting into short irregularly shaped cell projections. Slit diaphragms are lost or displaced from their usual position at the base and replaced by occludens-type junctions between the deformed, broadened foot processes. These changes are necessarily associated with considerable movements of these processes in relation to the glomerular basemenet membrane (GBM). The second phase, the completed stage of FPE, includes retraction of the foot processes into the primary podocyte cell processes, leading to broad flattened disc-like projections that cover the GBM, finally merging with the cell bodies. At this point, the cell bodies have lost their usual position floating above the GBM within the filtrate in Bowman space. Instead they broadly adhere directly to the GBM. The subpodocyte space beneath the podocyte cell body has largely disappeared in this stage. is_a: HP:0031265 ! Abnormal podocyte morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T19:38:16Z xsd:dateTime created_by: peter [Term] id: HP:0031267 name: Abnormal CD69 upregulation upon TCR activation def: "Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus." [ORCID:0000-0001-5208-3432] comment: This feature can be measured by flow cytometry. is_a: HP:0410035 ! Abnormal T cell activation property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T19:45:57Z xsd:dateTime created_by: peter [Term] id: HP:0031268 name: Decreased CD69 upregulation upon TCR activation def: "Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR)." [ORCID:0000-0001-5208-3432] is_a: HP:0031267 ! Abnormal CD69 upregulation upon TCR activation property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T19:50:21Z xsd:dateTime created_by: peter [Term] id: HP:0031269 name: Abnormal CD25 upregulation upon TCR activation def: "Any abnormality in the upregulation of CD25 on T cells after activation via the T cell receptor (TCR). CD25 is the alpha chain of the IL2 receptor. Ligation of the T cell antigen receptor leads to the induction of CD25 expression." [ORCID:0000-0001-5208-3432, PMID:12121224] is_a: HP:0410035 ! Abnormal T cell activation property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T19:51:36Z xsd:dateTime created_by: peter [Term] id: HP:0031270 name: Decreased CD25 upregulation upon TCR activation def: "Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR)." [ORCID:0000-0001-5208-3432] synonym: "Poor CD25 upregulation upon TCR activation" EXACT [] synonym: "Reduced IL2RA upregulation upon TCR activation" EXACT [] is_a: HP:0031269 ! Abnormal CD25 upregulation upon TCR activation property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T20:02:57Z xsd:dateTime created_by: peter [Term] id: HP:0031271 name: Absent ankle pulse def: "The pulsation of the posterior tibial artery behind the internal malleolus, or of the dorsalis pedis artery,cannot be detected on physical examination." [] is_a: HP:0025323 ! Abnormal arterial physiology property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T20:39:39Z xsd:dateTime created_by: peter [Term] id: HP:0031272 name: Pulmonary arterial atherosclerosis def: "Accumulation of lipids and inflammatory cells along the inner walls of the pulmonary artery." [] comment: Pulmonary artery atherosclerosis is less common than systemic arterial atherosclerosis. is_a: HP:0030966 ! Abnormal pulmonary artery morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T20:44:11Z xsd:dateTime created_by: peter [Term] id: HP:0031273 name: Shock def: "The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury." [] is_a: HP:0011025 ! Abnormal cardiovascular system physiology property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T20:50:38Z xsd:dateTime created_by: peter [Term] id: HP:0031274 name: Hypovolemic shock def: "A state of shock characterized by decreased circulating blood volume in relation to total vascular capacity. This type of shock is characterized by a reduction of diastolic filling pressures." [] is_a: HP:0031273 ! Shock property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T20:57:43Z xsd:dateTime created_by: peter [Term] id: HP:0031275 name: Distributive shock def: "A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage" [PMID:28238385] comment: Distribute shock is caused by inadequate cardiac preload due to vasodilatation and vascular leakage. Etiologies include postoperative SIRS, sepsis, anaphylactic reaction. is_a: HP:0031273 ! Shock property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T20:59:01Z xsd:dateTime created_by: peter [Term] id: HP:0031276 name: Obstructive shock def: "A type of shock characterized by inadequate cardiac preload due to obstructed venous return (e.g. pericardial tamponade, tension pneumothorax, abdominal compartment) or obstruction of arterial blood flow (e.g. pulmonary embolism)." [PMID:28785436] is_a: HP:0031273 ! Shock property_value: http://purl.org/dc/elements/1.1/date 2017-08-12T21:01:37Z xsd:dateTime created_by: peter [Term] id: HP:0031278 name: Abnormal thoracic duct morphology def: "Any structural anomaly of the thoracic duct." [] is_a: HP:0100766 ! Abnormal lymphatic vessel morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T16:33:27Z xsd:dateTime created_by: peter [Term] id: HP:0031279 name: Abnormal response to gonadotropin-releasing hormone stimulation test def: "An abnormal response to the gonadotropin-releasing hormone (GnRH) stimulation test. This test typically involves intravenous administration of GnRH followed by repeated blood sampling at various time points to measure the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH)." [PMID:22016677] comment: This test is regarded as the gold standard to identify central precocious puberty. synonym: "Abnormal response to GnRH stimulation test" EXACT HP:0045077 [] is_a: HP:0031073 ! Abnormal response to endocrine stimulation test property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T16:47:03Z xsd:dateTime created_by: peter [Term] id: HP:0031280 name: Increased LH response to gonadotropin-releasing hormone stimulation test def: "An abnormally high amount of luteinizing hormone (LH) is released upon gonadotropin-releasing hormine stimulation test." [PMID:22016677] is_a: HP:0031279 ! Abnormal response to gonadotropin-releasing hormone stimulation test property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T16:52:32Z xsd:dateTime created_by: peter [Term] id: HP:0031281 name: Sialadenitis def: "Inflammation of a salivary gland." [] is_a: HP:0010286 ! Abnormal salivary gland morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T17:06:09Z xsd:dateTime created_by: peter [Term] id: HP:0031282 name: Malalignment of the great toenail def: "A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges." [PMID:27171597] comment: See Figure 1 of PMID:27171597. is_a: HP:0008388 ! Abnormal toenail morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T17:08:48Z xsd:dateTime created_by: peter [Term] id: HP:0031283 name: Tufted hairs def: "The presence of tufts of 8-15 hairs that appear to emerge from a single follicular orifice." [] is_a: HP:0011360 ! Acquired abnormal hair pattern property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T17:39:57Z xsd:dateTime created_by: peter [Term] id: HP:0031284 name: Flushing def: "Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin." [] comment: Flushing can occur on the face, neck and, less frequently, the upper trunk and abdomen. is_a: HP:0011354 ! Generalized abnormality of skin property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T20:14:18Z xsd:dateTime created_by: peter [Term] id: HP:0031285 name: Abnormal perifollicular morphology def: "Any structural anomaly in the areas surrounding the hair follicles." [] is_a: HP:0000951 ! Abnormality of the skin property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T20:25:47Z xsd:dateTime created_by: peter [Term] id: HP:0031286 name: Perifollicular erythema def: "Redness surrounding the hair follicles." [PMID:24574696] is_a: HP:0031285 ! Abnormal perifollicular morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T20:27:06Z xsd:dateTime created_by: peter [Term] id: HP:0031287 name: Seborrheic keratosis def: "A raised growths on the skin of older individuals. The lesion usually is initially light tan and may darken to dark brown or nearly black. The consistent feature of seborrheic keratoses is their waxy, pasted-on or stuck-on look." [] comment: Seborrheic keratosis is a benign lesion of the skin that occurs more frequently in sunlight exposed areas. The lesions can appear anywhere on the body, but most often occur on the face, chest, and back. There may be just one or clusters of dozens. synonym: "Basal cell papilloma" EXACT [] synonym: "Seborrheic verruca" EXACT [] synonym: "Senile wart" EXACT layperson [] is_a: HP:0008069 ! Neoplasm of the skin property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T20:33:04Z xsd:dateTime created_by: peter [Term] id: HP:0031288 name: Cobblestone-like hyperkeratosis def: "The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones." [] xref: PMID:18809899 is_a: HP:0000962 ! Hyperkeratosis property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T20:43:09Z xsd:dateTime created_by: peter [Term] id: HP:0031289 name: White papule def: "A papule with white color." [] is_a: HP:0200034 ! Papule property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T20:48:57Z xsd:dateTime created_by: peter [Term] id: HP:0031290 name: Tuberous xanthoma def: "A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes." [] is_a: HP:0000991 ! Xanthomatosis property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T21:03:22Z xsd:dateTime created_by: peter [Term] id: HP:0031291 name: Ichthyosis follicularis def: "Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed." [PMID:14708109, PMID:21600032] is_a: HP:0008064 ! Ichthyosis property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T21:18:38Z xsd:dateTime created_by: peter [Term] id: HP:0031292 name: Cutaneous abscess def: "A circumscribed area of pus or necrotic debris in the skin." [] synonym: "Skin abscess" EXACT layperson [] is_a: HP:0011123 ! Inflammatory abnormality of the skin property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T21:21:54Z xsd:dateTime created_by: peter [Term] id: HP:0031293 name: Digital pitting scar def: "Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe." [PMID:8358096] is_a: HP:0100276 ! Skin pit property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T21:25:54Z xsd:dateTime created_by: peter [Term] id: HP:0031294 name: Hypoplastic right atrium def: "Underdeveloped, small right heart atrium." [] is_a: HP:0025580 ! Abnormal right atrium morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T21:36:55Z xsd:dateTime created_by: peter [Term] id: HP:0031295 name: Left atrial enlargement def: "Increase in size of the left atrium." [] synonym: "Enlarged heart left atrium" EXACT [] xref: Fyler:3011 xref: Fyler:3020 is_a: HP:0025579 ! Abnormal left atrium morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T21:38:04Z xsd:dateTime created_by: peter [Term] id: HP:0031296 name: Atrial septal hypertrophy def: "An abnormal increase in the thickness of the atrial septum." [PMID:12664819] is_a: HP:0005120 ! Abnormal cardiac atrium morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T21:41:59Z xsd:dateTime created_by: peter [Term] id: HP:0031297 name: Unroofed coronary sinus def: "Unroofed coronary sinus (CS) is a rare congenital cardiac anomaly in which there is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. The morphological types have been classified into 4 groups: Type I, completely unroofed with persistent LSVC; type II, completely unroofed without persistent LSVC; type III, partially unroofed mid portion; and type IV, partially unroofed terminal portion." [PMID:19398672] is_a: HP:0001631 ! Atrial septal defect is_a: HP:0011642 ! Abnormal coronary sinus morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T21:44:35Z xsd:dateTime created_by: peter [Term] id: HP:0031298 name: Coronary sinus enlargement def: "Abnormal increase in size of the coronary sinus." [] comment: The coronary sinus is rarely seen on echocardiography in healthy persons. The differential diagnosis of dilated coronary sinus includes right ventricular dysfunction, right atrial hypertension, and anomalous venous drainage into the coronary sinus. synonym: "Coronary sinus dilatation" EXACT [] synonym: "Enlarged coronary sinus" EXACT [] is_a: HP:0011642 ! Abnormal coronary sinus morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T21:47:43Z xsd:dateTime created_by: peter [Term] id: HP:0031299 name: Elevated left atrial pressure def: "An abnormal increase in magnitude of the pressure in the left atrium." [] is_a: HP:0025443 ! Abnormal cardiac atrial physiology property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T21:54:47Z xsd:dateTime created_by: peter [Term] id: HP:0031300 name: Abnormal circulating properdin level def: "A deviation from the normal concentration of properdin in the blood." [PMID:16301317] comment: There are three pathways of complement activation, the classical pathway, lectin pathway, and alternative pathway. Each generates a C3 convertase, a serine protease that cleaves the central complement protein, C3. Nearly all the biological consequences of complement are dependent on the resulting cleavage products. Properdin is a positive regulator of complement activation that stabilizes the alternative pathway convertases (C3bBb). Properdin is composed of multiple identical protein subunits, with each subunit carrying a separate ligand-binding site. is_a: HP:0025465 ! Abnormal circulating beta globulin level property_value: http://purl.org/dc/elements/1.1/date 2017-08-13T22:01:48Z xsd:dateTime created_by: peter [Term] id: HP:0031301 name: Peripheral arterial calcification def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall." [PMID:24402839, PMID:26811161] comment: Peripheral arterial calcification can be observed on radiographs and may be classified as either medial (linear calcifications in a train-track pattern) or atherosclerotic (distinct, nodular calcifications). A number of other techniques may also be used to detect peripheral arterial calcification including computed tomographic (CT) and magnetic resonance (MR) imaging, duplex ultrasonography, measurement of pulse wave velocity, echocardiography, planar radiographs, and indirectly, the ankle-brachial index. synonym: "Peripheral artery calcification" EXACT [] is_a: HP:0003207 ! Arterial calcification property_value: http://purl.org/dc/elements/1.1/date 2017-08-26T20:56:01Z xsd:dateTime created_by: peter [Term] id: HP:0031302 name: Lower extremity peripheral arterial calcification def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the leg." [] synonym: "Lower extremity peripheral artery calcification" EXACT [] is_a: HP:0031301 ! Peripheral arterial calcification property_value: http://purl.org/dc/elements/1.1/date 2017-08-26T21:03:24Z xsd:dateTime created_by: peter [Term] id: HP:0031303 name: Femoral arterial calcification def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the femoral artery." [] is_a: HP:0031302 ! Lower extremity peripheral arterial calcification property_value: http://purl.org/dc/elements/1.1/date 2017-08-26T21:04:24Z xsd:dateTime created_by: peter [Term] id: HP:0031304 name: Iliac arterial calcification def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the iliac artery." [] is_a: HP:0031302 ! Lower extremity peripheral arterial calcification property_value: http://purl.org/dc/elements/1.1/date 2017-08-26T21:05:02Z xsd:dateTime created_by: peter [Term] id: HP:0031305 name: Tibial arterial calcification def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the tibial artery." [] is_a: HP:0031302 ! Lower extremity peripheral arterial calcification property_value: http://purl.org/dc/elements/1.1/date 2017-08-26T21:05:24Z xsd:dateTime created_by: peter [Term] id: HP:0031306 name: Intracranial arterial calcification def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in an artery that is located within the skull (intracranial)." [] is_a: HP:0003207 ! Arterial calcification property_value: http://purl.org/dc/elements/1.1/date 2017-08-26T21:30:38Z xsd:dateTime created_by: peter [Term] id: HP:0031307 name: Internal carotid artery calcification def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the internal carotid artery." [] is_a: HP:0031306 ! Intracranial arterial calcification is_a: HP:0031314 ! Carotid artery calcification property_value: http://purl.org/dc/elements/1.1/date 2017-08-26T21:32:35Z xsd:dateTime created_by: peter [Term] id: HP:0031308 name: Vertebral artery calcification def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the vertebral artery." [] is_a: HP:0031306 ! Intracranial arterial calcification property_value: http://purl.org/dc/elements/1.1/date 2017-08-26T21:33:38Z xsd:dateTime created_by: peter [Term] id: HP:0031309 name: Cerebral artery calcification def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a cerebral artery." [] is_a: HP:0031306 ! Intracranial arterial calcification property_value: http://purl.org/dc/elements/1.1/date 2017-08-26T21:34:47Z xsd:dateTime created_by: peter [Term] id: HP:0031310 name: Basilar artery calcification def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the basilar artery." [] is_a: HP:0031306 ! Intracranial arterial calcification property_value: http://purl.org/dc/elements/1.1/date 2017-08-26T21:35:20Z xsd:dateTime created_by: peter [Term] id: HP:0031311 name: Middle cerebral artery calcification def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the middle cerebral artery." [] is_a: HP:0031309 ! Cerebral artery calcification property_value: http://purl.org/dc/elements/1.1/date 2017-08-26T21:36:18Z xsd:dateTime created_by: peter [Term] id: HP:0031313 name: Abdominal aortic calcification def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in abdominal aorta." [] is_a: HP:0004963 ! Calcification of the aorta property_value: http://purl.org/dc/elements/1.1/date 2017-08-26T21:44:24Z xsd:dateTime created_by: peter [Term] id: HP:0031314 name: Carotid artery calcification def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a carotid artery." [] is_a: HP:0003207 ! Arterial calcification property_value: http://purl.org/dc/elements/1.1/date 2017-08-26T21:52:52Z xsd:dateTime created_by: peter [Term] id: HP:0031315 name: External carotid artery calcification def: "An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the external carotid artery." [] is_a: HP:0031314 ! Carotid artery calcification property_value: http://purl.org/dc/elements/1.1/date 2017-08-26T21:53:48Z xsd:dateTime created_by: peter [Term] id: HP:0031316 name: Abnormal ventricular myocardium morphology def: "A structural anomaly of the muscle layer of the heart wall of a cardiac ventricle." [] is_a: HP:0001637 ! Abnormal myocardium morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T11:43:31Z xsd:dateTime created_by: peter [Term] id: HP:0031317 name: Fatty replacement of ventricular myocardial tissue def: "Presence of an increased amount of fat tissue withina cardiac ventricle with corresponding reduction of muscle tissue." [] synonym: "Fatty infiltration of cardiac ventricle" EXACT [] synonym: "Intramyocardial fat infiltration" EXACT [] is_a: HP:0001637 ! Abnormal myocardium morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T11:45:49Z xsd:dateTime created_by: peter [Term] id: HP:0031318 name: Myofiber disarray def: "A nonparallel arrangement of cardiac myocytes." [PMID:7890275] comment: The presence of a sufficient quantity of myocardial fibers showing this change is considered to be a specific histological feature of hypertrophic cardiomyopathy. synonym: "Myocardial fiber disarray" EXACT [] is_a: HP:0001637 ! Abnormal myocardium morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T11:50:24Z xsd:dateTime created_by: peter [Term] id: HP:0031319 name: Cardiomyocyte hypertrophy def: "An abnormal increase in the volume of cardiac myocytes." [PMID:7626345] comment: Adult cardiac myocytes are highly specialized, terminally differentiated cells which have lost the ability to divide. The increase in heart muscle mass seen in cardiac hypertrophy occurs predominantly through an increase in myocyte size rather than number. Hypertrophy is the principal response of the heart to overload from any cause, including hypertension, myocardial infarction, valvar heart disease, and dilated cardiomyopathy. synonym: "Myocyte cellular hypertrophy" EXACT [] is_a: HP:0031331 ! Abnormal cardiomyocyte morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T11:58:21Z xsd:dateTime created_by: peter [Term] id: HP:0031320 name: Cardiomyocyte mitochondrial proliferation def: "An abnormal increase in the number of mitochondria per cardiac myocyte." [] is_a: HP:0031331 ! Abnormal cardiomyocyte morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T12:02:57Z xsd:dateTime created_by: peter [Term] id: HP:0031321 name: Myocardial immune cell infiltration def: "An increase in the number of immune cells in myocardial tissue (which can be assumed to have migrated into the myocardium)." [] is_a: HP:0001637 ! Abnormal myocardium morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T12:06:55Z xsd:dateTime created_by: peter [Term] id: HP:0031322 name: Myocardial lymphocytic infiltration def: "An increase in the number of lymphocytes in myocardial tissue." [] is_a: HP:0031321 ! Myocardial immune cell infiltration property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T12:08:10Z xsd:dateTime created_by: peter [Term] id: HP:0031323 name: Myocardial eosinophilic infiltration def: "An increase in the number of eosinophils in myocardial tissue." [] is_a: HP:0031321 ! Myocardial immune cell infiltration property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T12:08:48Z xsd:dateTime created_by: peter [Term] id: HP:0031324 name: Myocardial multinucleated giant cells def: "The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin." [PMID:26140040] is_a: HP:0031321 ! Myocardial immune cell infiltration property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T12:15:15Z xsd:dateTime created_by: peter [Term] id: HP:0031325 name: Myocardial granulomatous infiltrates def: "The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the myocardium." [] is_a: HP:0031321 ! Myocardial immune cell infiltration property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T12:21:00Z xsd:dateTime created_by: peter [Term] id: HP:0031326 name: Monoclonal light chain cardiac amyloidosis def: "A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry." [PMID:28456755] is_a: HP:0030843 ! Cardiac amyloidosis property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T12:23:49Z xsd:dateTime created_by: peter [Term] id: HP:0031327 name: Transthyretin cardiac amyloidosis def: "A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining." [PMID:22949539] synonym: "TTR cardiac amyloidosis" EXACT HP:0045077 [] is_a: HP:0030843 ! Cardiac amyloidosis property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T12:29:13Z xsd:dateTime created_by: peter [Term] id: HP:0031328 name: Perivascular cardiac fibrosis def: "A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces." [PMID:10435025] is_a: HP:0001685 ! Myocardial fibrosis is_a: HP:0032200 ! Perivascular fibrosis property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T12:38:28Z xsd:dateTime created_by: peter [Term] id: HP:0031329 name: Interstitial cardiac fibrosis def: "A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces." [PMID:10435025] is_a: HP:0001685 ! Myocardial fibrosis property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T12:39:54Z xsd:dateTime created_by: peter [Term] id: HP:0031330 name: Perivascular myocardial immune cell infiltration def: "An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels." [] is_a: HP:0031321 ! Myocardial immune cell infiltration property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T12:41:40Z xsd:dateTime created_by: peter [Term] id: HP:0031331 name: Abnormal cardiomyocyte morphology def: "Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue." [] synonym: "Abnormal cardiac muscle cell morphology" EXACT [] is_a: HP:0001627 ! Abnormal heart morphology is_a: HP:0025461 ! Abnormal cell morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T12:50:02Z xsd:dateTime created_by: peter [Term] id: HP:0031332 name: Cardiomyocyte degeneration def: "Deterioration of cardiomyocyte charyacterized by abnormal features sich as loss of myotilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris." [] is_a: HP:0031331 ! Abnormal cardiomyocyte morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T12:54:33Z xsd:dateTime created_by: peter [Term] id: HP:0031333 name: Myocardial sarcomeric disarray def: "A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and action that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes." [PMID:22311886, PMID:7788887] synonym: "Myocardial sarcomere disarray" EXACT [] is_a: HP:0031331 ! Abnormal cardiomyocyte morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T13:11:25Z xsd:dateTime created_by: peter [Term] id: HP:0031334 name: Cardiomyocyte inclusion bodies def: "Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes." [] is_a: HP:0031331 ! Abnormal cardiomyocyte morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T13:18:12Z xsd:dateTime created_by: peter [Term] id: HP:0031335 name: Abnormal cardiomyocyte mitochondrial morphology def: "An anomaly of the structure of mitochondria within cardiomyocytes." [] is_a: HP:0031331 ! Abnormal cardiomyocyte morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T13:21:27Z xsd:dateTime created_by: peter [Term] id: HP:0031336 name: Intranuclear cardiomyocyte mitochondria def: "Abnormal localization of mitochondria within the nuclei of cardiomyocytes." [PMID:22948484] comment: Electron microscopy of mammalian cardiac and skeletal muscle tissues reveal mitochondria as individual organelles situated either in clusters beneath the sarcolemma (subsarcolemmal mitochondria) or in longitudinal rows within the contractile apparatus (interfibrillar mitochondria). is_a: HP:0031335 ! Abnormal cardiomyocyte mitochondrial morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T13:30:13Z xsd:dateTime created_by: peter [Term] id: HP:0031337 name: Abnormal cardiomyocyte connexin43 staining def: "Anomalous staining of Connexin43 in cardiomyocytes. Connexin43 (Cx43) is the primary gap junction protein in the working myocardium. Cx43 exhibits increased localization at the lateral membranes of cardiomyocytes in a variety of heart diseases." [PMID:20167932] is_a: HP:0031331 ! Abnormal cardiomyocyte morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T13:35:38Z xsd:dateTime created_by: peter [Term] id: HP:0031338 name: Abnormal cardiomyocyte plakoglobin staining def: "Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes." [PMID:25196244] is_a: HP:0031331 ! Abnormal cardiomyocyte morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T13:39:34Z xsd:dateTime created_by: peter [Term] id: HP:0031339 name: Abnormal cadiomyocyte dystrophin staining def: "Anomalous staining of dystrophin in cardiomyocytes." [PMID:23330010] comment: Dystrophin, a 427-kD cytoskeletal protein, is a member of the beta-spectrin/alpha-actinin protein family. Dystrophin and the dystrophin-associated proteins (dystroglycans, sarcoglycans, sarcospan, dystrobrevin, and syntrophins) form a complex that is involved in contractile force transmission and stabilization of the plasma membrane. is_a: HP:0031331 ! Abnormal cardiomyocyte morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T13:42:50Z xsd:dateTime created_by: peter [Term] id: HP:0031340 name: Abnormal lysosomal morphology def: "A structural anomaly of lysosomes, membrane-enclosed organelles that contain an array of enzymes capable of catabolizing proteins, nucleic acids, carbohydrates, and lipids." [] is_a: HP:0025461 ! Abnormal cell morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T13:46:19Z xsd:dateTime created_by: peter [Term] id: HP:0031341 name: Gastric arteriovenous malformation def: "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the stomach." [] is_a: HP:0002629 ! Gastrointestinal arteriovenous malformation property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T13:53:06Z xsd:dateTime created_by: peter [Term] id: HP:0031342 name: Duodenal arteriovenous malformation def: "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the duodenum." [] is_a: HP:0002629 ! Gastrointestinal arteriovenous malformation property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T13:55:02Z xsd:dateTime created_by: peter [Term] id: HP:0031343 name: Jejunal arteriovenous malformation def: "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the jejunum." [] is_a: HP:0002629 ! Gastrointestinal arteriovenous malformation property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T13:55:25Z xsd:dateTime created_by: peter [Term] id: HP:0031344 name: Pelvic arteriovenous malformation def: "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the pelvis." [PMID:11292918] is_a: HP:0100026 ! Arteriovenous malformation property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T13:56:39Z xsd:dateTime created_by: peter [Term] id: HP:0031345 name: Colonic arteriovenous malformation def: "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the colon." [] is_a: HP:0002629 ! Gastrointestinal arteriovenous malformation property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T13:57:43Z xsd:dateTime created_by: peter [Term] id: HP:0031346 name: Rectal arteriovenous malformation def: "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the rectum." [] is_a: HP:0002629 ! Gastrointestinal arteriovenous malformation property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T13:59:03Z xsd:dateTime created_by: peter [Term] id: HP:0031347 name: Uterine arteriovenous malformation def: "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the uterus." [] is_a: HP:0100026 ! Arteriovenous malformation property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T13:59:42Z xsd:dateTime created_by: peter [Term] id: HP:0031348 name: Dextrotransposition of the great arteries def: "A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA." [PMID:25082585] synonym: "D-loop transposition of the great arteries" EXACT [] synonym: "D-TGA" EXACT HP:0045077 [] xref: Fyler:0700 xref: Fyler:700 is_a: HP:0001669 ! Transposition of the great arteries property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T14:17:00Z xsd:dateTime created_by: peter [Term] id: HP:0031349 name: Levotransposition of the great arteries def: "A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the left of the pulmonary artery." [] synonym: "L-TGA" EXACT HP:0045077 [] is_a: HP:0001669 ! Transposition of the great arteries property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T14:19:14Z xsd:dateTime created_by: peter [Term] id: HP:0031350 name: Cardiac sarcoma def: "A malignant soft tissue neoplasm that arises from the heart." [NCIT:C7723] is_a: HP:0100544 ! Neoplasm of the heart property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T14:27:33Z xsd:dateTime created_by: peter [Term] id: HP:0031351 name: Calcified amorphous tumor of the heart def: "A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue." [PMID:24932362] synonym: "Calcified amorphous tumour of the heart" EXACT HP:0045076 [] is_a: HP:0100544 ! Neoplasm of the heart property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T14:28:56Z xsd:dateTime created_by: peter [Term] id: HP:0031352 name: Chest tightness def: "An unpleasant sensation of tightness or pressure in the chest." [ORCID:0000-0001-5208-3432, PMID:16990972, PMID:18405952] synonym: "Tightness in chest" EXACT [] is_a: HP:0025142 ! Constitutional symptom property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T14:49:28Z xsd:dateTime created_by: peter [Term] id: HP:0031353 name: Otitis media with effusion def: "Otitis media characterized by thick or sticky fluid behind the tympanic membrane." [ORCID:0000-0001-5208-3432] synonym: "Fluid behind eardrum" EXACT layperson [] is_a: HP:0000388 ! Otitis media property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T14:53:18Z xsd:dateTime created_by: peter [Term] id: HP:0031354 name: Sleep onset Insomnia def: "Difficulty initiating sleep, that is, increased sleep onset latency." [] is_a: HP:0100785 ! Insomnia property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T15:00:50Z xsd:dateTime created_by: peter [Term] id: HP:0031355 name: Maintenance insomnia def: "Abnormal difficulty in staying asleep. Affected individuals tend to wake up at night and have difficulty returning to sleep." [] is_a: HP:0100785 ! Insomnia property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T15:04:00Z xsd:dateTime created_by: peter [Term] id: HP:0031356 name: Terminal insomnia def: "A type of insomnia characterized by waking up (too) early in the morning." [] synonym: "Late insomnia" EXACT [] is_a: HP:0100785 ! Insomnia property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T15:04:51Z xsd:dateTime created_by: peter [Term] id: HP:0031357 name: Glomeruloid hemangioma def: "A histologically distinctive, cutaneous, benign vascular tumor that is characterized by a solitary or multiple blue-red papules and histologically resembles renal glomeruli." [PMID:23716835] is_a: HP:0001028 ! Hemangioma property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T15:44:04Z xsd:dateTime created_by: peter [Term] id: HP:0031358 name: Vegetative state def: "Absence of wakefulness and conscience, but (in contrast to coma) with involuntary opening of the eyes and movements (such as teeth grinding, yawning, or thrashing of the extremities)." [] is_a: HP:0004372 ! Reduced consciousness/confusion property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T15:49:29Z xsd:dateTime created_by: peter [Term] id: HP:0031359 name: Cutaneous sclerotic plaque def: "A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter that is characterized by hardening (sclerosis) of the affected skin area (related to collagen thickening)." [] is_a: HP:0200035 ! Skin plaque property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T15:54:00Z xsd:dateTime created_by: peter [Term] id: HP:0031360 name: Yellow skin plaque def: "A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter and that has a yellow color." [] is_a: HP:0200035 ! Skin plaque property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T15:56:50Z xsd:dateTime created_by: peter [Term] id: HP:0031361 name: Zebra bodies def: "Intralysosomal, osmiophilic, lamellated and sometimes concentric cytoplasmicv inclusions comprised of broad transversely-stacked myelinoid membranes and said to resemble a zebra in electron microscopic images." [PMID:28499424] is_a: HP:0031340 ! Abnormal lysosomal morphology property_value: http://purl.org/dc/elements/1.1/date 2017-08-27T16:00:15Z xsd:dateTime created_by: peter [Term] id: HP:0031362 name: Sex-limited autosomal recessive inheritance def: "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes in a sex-specific manner (i.e. only in males or only in females)." [] is_a: HP:0000007 ! Autosomal recessive inheritance property_value: http://purl.org/dc/elements/1.1/date 2017-08-29T11:43:01Z xsd:dateTime created_by: peter [Term] id: HP:0031363 name: Palpable purpura def: "A type of purpura in which the lesions are raised (and can therefore be appreciated upon palpation)." [] is_a: HP:0000979 ! Purpura property_value: http://purl.org/dc/elements/1.1/date 2017-08-29T12:31:01Z xsd:dateTime created_by: peter [Term] id: HP:0031364 name: Ecchymosis def: "A purpuric lesion that is larger than 1 cm in diameter." [] synonym: "Ecchymoses" EXACT HP:0045078 [] is_a: HP:0031365 ! Macular purpura property_value: http://purl.org/dc/elements/1.1/date 2017-08-29T12:32:57Z xsd:dateTime created_by: peter [Term] id: HP:0031365 name: Macular purpura def: "Purpura that is flat (non-palpable, not raised)." [] synonym: "Flat purpura" EXACT [] is_a: HP:0000979 ! Purpura property_value: http://purl.org/dc/elements/1.1/date 2017-08-29T12:35:34Z xsd:dateTime created_by: peter [Term] id: HP:0031366 name: Palate neoplasm def: "A neoplasm that affects the hard palate, soft palate, or uvula." [NCIT:C4402] is_a: HP:0100649 ! Neoplasm of the oral cavity property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T00:52:14Z xsd:dateTime created_by: peter [Term] id: HP:0031367 name: Metaphyseal striations def: "Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis)." [PMID:18203204] synonym: "Striated metaphysis" EXACT [] is_a: HP:0000944 ! Abnormality of the metaphysis property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T01:05:37Z xsd:dateTime created_by: peter [Term] id: HP:0031368 name: Intestinal perforation def: "A hole (perforation) in the wall of the intestine." [] is_a: HP:0002242 ! Abnormal intestine morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T01:23:22Z xsd:dateTime created_by: peter [Term] id: HP:0031369 name: Colon perforation def: "A hole (perforation) in the wall of the colon." [PMID:22334860] synonym: "Perforation of the colon" EXACT [] is_a: HP:0031368 ! Intestinal perforation property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T01:29:52Z xsd:dateTime created_by: peter [Term] id: HP:0031370 name: Small intestinal perforation def: "A hole (perforation) in the wall of the small intestine." [] is_a: HP:0031368 ! Intestinal perforation property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T01:30:46Z xsd:dateTime created_by: peter [Term] id: HP:0031371 name: Rectal perforation def: "A hole (perforation) in the wall of the rectum." [PMID:28290145] is_a: HP:0031368 ! Intestinal perforation property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T01:31:51Z xsd:dateTime created_by: peter [Term] id: HP:0031372 name: Cold paresis def: "Increased muscle weakness upon exposure to cold temperatures." [PMID:20803025] is_a: HP:0001324 ! Muscle weakness property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T01:39:18Z xsd:dateTime created_by: peter [Term] id: HP:0031373 name: Stiff tongue def: "Increased rigidity and reduced mobility of the tongue." [] synonym: "Tongue stiffness" EXACT [] is_a: HP:0030809 ! Abnormal tongue morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T01:42:21Z xsd:dateTime created_by: peter [Term] id: HP:0031374 name: Ankle weakness def: "Reduced strength of the muscles that lift or otherwise move the foot at the ankle." [] is_a: HP:0001324 ! Muscle weakness property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T01:47:35Z xsd:dateTime created_by: peter [Term] id: HP:0031375 name: Refractory def: "Applies to a sign or symptom that is difficult to treat or cure." [] is_a: HP:0012823 ! Clinical modifier property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T01:54:32Z xsd:dateTime created_by: peter [Term] id: HP:0031377 name: Abnormal cell proliferation def: "Any abnormality in the multiplication or reproduction of cells, which may result in the expansion of a cell population." [] is_a: HP:0011017 ! Abnormal cellular physiology property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T15:54:47Z xsd:dateTime created_by: peter [Term] id: HP:0031378 name: Abnormal lymphocyte proliferation def: "Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population." [] is_a: HP:0031377 ! Abnormal cell proliferation is_a: HP:0031409 ! Abnormal lymphocyte physiology property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T15:55:37Z xsd:dateTime created_by: peter [Term] id: HP:0031379 name: Abnormal T cell proliferation def: "Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population." [] is_a: HP:0011840 ! Abnormality of T cell physiology is_a: HP:0031378 ! Abnormal lymphocyte proliferation property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T15:56:23Z xsd:dateTime created_by: peter [Term] id: HP:0031380 name: Abnormal B cell proliferation def: "Any abnormality in the multiplication or reproduction of B cells, which results in the expansion of a cell population." [] is_a: HP:0031378 ! Abnormal lymphocyte proliferation property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T15:56:42Z xsd:dateTime created_by: peter [Term] id: HP:0031381 name: Decreased lymphocyte proliferation in response to mitogen def: "A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA)." [] synonym: "Reduced lymphocyte proliferation to mitogen" EXACT [] is_a: HP:0031378 ! Abnormal lymphocyte proliferation property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T15:57:05Z xsd:dateTime created_by: peter [Term] id: HP:0031382 name: Decreased lymphocyte proliferation in response to anti-CD3 def: "A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3." [] is_a: HP:0031381 ! Decreased lymphocyte proliferation in response to mitogen property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T15:57:46Z xsd:dateTime created_by: peter [Term] id: HP:0031383 name: Abnormal lymphocyte surface marker expression def: "Abnormal amount of a protein that is normally present on the cell surface of lymphocytes." [] is_a: HP:0010978 ! Abnormality of immune system physiology property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T16:14:13Z xsd:dateTime created_by: peter [Term] id: HP:0031384 name: Reduced T cell CD40 expression def: "A deficiency in the expression of the CD40 ligand on the surface of activated T-lymphocytes." [] comment: This feature can be observed with X-linked Hyper IgM (XHIGM) syndrome. As a consequence of the deficiency in CD40 ligand, T-lymphocytes in patients with XHIGM are unable to instruct B-lymphocytes to switch their production of immunoglobulins from IgM to IgG, IgA and IgE. is_a: HP:0031383 ! Abnormal lymphocyte surface marker expression property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T16:16:13Z xsd:dateTime created_by: peter [Term] id: HP:0031385 name: Megakaryocyte nucleus hypolobulation def: "The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus." [PMID:27107657] comment: Megakaryocytes with a hypolobulated nucleus can be seen in normal bone marrow but numbers are increased in some patients with myelodysplastic syndrome. is_a: HP:0012143 ! Abnormal megakaryocyte morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T16:33:22Z xsd:dateTime created_by: peter [Term] id: HP:0031386 name: Increased micromegakaryocyte count def: "The presence of abnormally high numbers of micromegakaryocytes in the bone marrow. Micromegakaryocytes are mononuclear diploid cells, with a nucleus similar in size to that of a myeloblast or promyelocyte with the cell being less than 30 micrometers in diameter." [PMID:27107657] comment: Micromegakaryocytes are characteristic of myelodysplastic syndromebut may be seen in other conditions. is_a: HP:0012143 ! Abnormal megakaryocyte morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T16:35:34Z xsd:dateTime created_by: peter [Term] id: HP:0031387 name: Increased multinucleated megakaryocyte count def: "The presence of abnormally high numbers of multinucleated megakaryocytes in the bone marrow." [PMID:27107657] comment: A multinucleated megakaryocyte is a cell of normal size with two or more nuclei. Binucleated micromegakaryocytes should be categorized as such rather than as multinucleated megakaryocytes since the restricted size is of more diagnostic significance than the presence of two nuclei. Multinucleated megakaryocytes are seen in small numbers in normal bone marrow aspirates but in larger numbers in some patients with MDS. is_a: HP:0012143 ! Abnormal megakaryocyte morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T16:37:55Z xsd:dateTime created_by: peter [Term] id: HP:0031388 name: Megakaryocyte nucleus hyperlobulation def: "The presence of megakaryocytes in the bone marrow whose nuclei are more lobulated than expected for the size of the nucleus." [PMID:27107657] comment: A large megakaryocyte with a hyperlobulated nucleus is a cell that is larger than average size and has more nuclear lobulation than average. Some such megakaryocytes are seen in normal bone marrows but when they are present as an increased proportion they should be commented on. Increased numbers are seen sometimes in myelodysplastic syndrome but they are more frequent in myelodysplastic/myeloproliferative neoplasms (MDS/MPN) and in MPN, particularly essential thrombocythemia. is_a: HP:0012143 ! Abnormal megakaryocyte morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T16:40:09Z xsd:dateTime created_by: peter [Term] id: HP:0031389 name: Abnormal MHC II surface expression def: "A deviation from the normal level of major histocompatibility complex class II molecules expressed at the cell surface." [] is_a: HP:0010978 ! Abnormality of immune system physiology property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T17:00:16Z xsd:dateTime created_by: peter [Term] id: HP:0031390 name: Reduced MHC II surface expression def: "A reduction from the normal level of major histocompatibility complex class II molecules expressed at the cell surface." [] is_a: HP:0031389 ! Abnormal MHC II surface expression property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T17:00:49Z xsd:dateTime created_by: peter [Term] id: HP:0031391 name: Elevated MHC II surface expression def: "An increase above the normal level of major histocompatibility complex class II molecules expressed at the cell surface." [] is_a: HP:0031389 ! Abnormal MHC II surface expression property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T17:02:46Z xsd:dateTime created_by: peter [Term] id: HP:0031392 name: Abnormal proportion of CD4 T cells def: "Any abnormality in the proportion of CD4 T cells relative to the total number of T cells." [] synonym: "Abnormal proportion of CD4+ T cells" EXACT [] is_a: HP:0025540 ! Abnormal T cell subset distribution property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T17:05:31Z xsd:dateTime created_by: peter [Term] id: HP:0031393 name: Abnormal proportion of CD8 T cells def: "Any abnormality in the proportion of CD8 T cells relative to the total number of T cells." [] synonym: "Abnormal proportion of CD8+ T cells" EXACT [] is_a: HP:0025540 ! Abnormal T cell subset distribution property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T17:06:06Z xsd:dateTime created_by: peter [Term] id: HP:0031394 name: Abnormal CD4:CD8 ratio def: "Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes." [] is_a: HP:0025540 ! Abnormal T cell subset distribution property_value: http://purl.org/dc/elements/1.1/date 2017-09-02T17:06:44Z xsd:dateTime created_by: peter [Term] id: HP:0031396 name: Abnormal proportion of naive T cells def: "Any abnormality in the proportion of naive T cells relative to the total number of T cells." [PMID:12133935] comment: Following the development of T cells in the thymus, they enter the blood stream and recirculate between the blood and peripheral lymphatic tissues. Mature recirculating T cells that have not yet encountered their specific antigen are known as naive T cells. Mature T cell not yet exposed to antigen with the phenotype CCR7-positive, CD45RA-positive, and CD127-positive. This cell type is also described as being CD25-negative, CD62L-high and CD44-low. Human mature CD4+ T cells are functionally heterogeneous and can be divided into naive and memory/effector populations based on the expression of cell surface markers. Although the most significant differences between these two populations are functional, the leukocyte common Ag (CD45) was promoted as a potential marker of memory T cells. CD45 Ag may be found in various isoforms depending on alternative splicing of three extracellularly expressed exons. The expression of the highest molecular weight isoform, referred to as CD45RA, defines the population of CD4+ unprimed lymphocytes. Activation of naive lymphocytes through TCR engagement is followed by loss of CD45RA Ag and transition to the expression of the smallest molecular weight isoform CD45RO. These primed cells express high levels of activation Ags, acquire effector functions, and need less costimuli requirements for further activation. synonym: "Abnormal naive T cell proportion" EXACT [] is_a: HP:0025540 ! Abnormal T cell subset distribution property_value: http://purl.org/dc/elements/1.1/date 2017-09-03T12:46:29Z xsd:dateTime created_by: peter [Term] id: HP:0031397 name: Reduced proportion of naive T cells def: "An abnormally decreased proportion of naive T cells relative to the total number of T cells." [HPO:probinson, PMID:12133935] is_a: HP:0031396 ! Abnormal proportion of naive T cells property_value: http://purl.org/dc/elements/1.1/date 2017-09-03T12:53:09Z xsd:dateTime created_by: peter [Term] id: HP:0031398 name: Elevated proportion of naive T cells def: "An abnormally increased proportion of naive T cells relative to the total number of T cells." [PMID:12133935] is_a: HP:0031396 ! Abnormal proportion of naive T cells property_value: http://purl.org/dc/elements/1.1/date 2017-09-03T12:53:42Z xsd:dateTime created_by: peter [Term] id: HP:0031399 name: Abnormal proportion of double-negative alpha-beta regulatory T cell def: "An abnormal proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells." [PMID:16285891, PMID:22294241] comment: T lymphocytes bearing the alpha-beta T cell receptor (TCR) but lacking CD4, CD8, and markers of natural killer (NK) cell differentiation, i.e., TCR(+)CD3(+)CD4(-)CD8(-), are known as double-negative (DN) T cells and are defined by their capability of inhibiting immune responses via directly killing effector T cells in an antigen specific fashion. Furthermore, DN Treg cells have been shown to develop regulatory activity after encountering specific antigens, partially mediated by the acquisition of MHC-peptide complexes from antigen presenting cells (APCs). synonym: "Abnormal CD4-negative, CD8-negative, alpha-beta regulatory T cell distribution" EXACT [] synonym: "Abnormal DN Treg distribution" EXACT [] synonym: "Abnormal Double negative Treg distribution" EXACT [] synonym: "Abnormal double-negative alpha-beta regulatory T cell distribution" EXACT [] is_a: HP:0025540 ! Abnormal T cell subset distribution property_value: http://purl.org/dc/elements/1.1/date 2017-09-03T12:57:22Z xsd:dateTime created_by: peter [Term] id: HP:0031401 name: Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells def: "An abnormally decreased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells." [] is_a: HP:0031399 ! Abnormal proportion of double-negative alpha-beta regulatory T cell property_value: http://purl.org/dc/elements/1.1/date 2017-09-03T13:02:44Z xsd:dateTime created_by: peter [Term] id: HP:0031402 name: Reduced antigen-specific T cell proliferation def: "Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus." [] synonym: "Antigen-specific T cell proliferation defect" EXACT [] synonym: "Impaired activated T cell proliferation" EXACT [] synonym: "Impaired Ag-specific T cell proliferation" EXACT HP:0045077 [] synonym: "Impaired cellular adaptive immune response" BROAD [] is_a: HP:0031379 ! Abnormal T cell proliferation is_a: HP:0031404 ! Impaired antigen-specific response property_value: http://purl.org/dc/elements/1.1/date 2017-09-03T15:31:43Z xsd:dateTime created_by: peter [Term] id: HP:0031403 name: Impaired pathogen-specific CD8 cytoxicity def: "Impaired response of CD8 T cells to pathogens. CD8 T cells direct the killing of a target cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors." [PMID:11911826] synonym: "Pathogen-specific CD8 cytoxicity defect" EXACT [] is_a: HP:0031404 ! Impaired antigen-specific response property_value: http://purl.org/dc/elements/1.1/date 2017-09-03T15:35:22Z xsd:dateTime created_by: peter [Term] id: HP:0031404 name: Impaired antigen-specific response def: "An impaired immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory)." [] synonym: "Impaired adaptive immune response" EXACT [] is_a: HP:0010978 ! Abnormality of immune system physiology property_value: http://purl.org/dc/elements/1.1/date 2017-09-03T15:36:45Z xsd:dateTime created_by: peter [Term] id: HP:0031405 name: Poroma def: "A benign, well circumscribed sweat gland neoplasm with eccrine or apocrine differentiation. It usually presents as a solitary, dome-shaped papule, nodule, or plaque on acral sites. It is characterized by a proliferation of uniform basaloid cells in the dermis and it is associated with the presence of focal ductal and cystic structures [NCIT:C27273]." [NCIT:C27273] is_a: HP:0012842 ! Skin appendage neoplasm property_value: http://purl.org/dc/elements/1.1/date 2017-09-03T15:57:11Z xsd:dateTime created_by: peter [Term] id: HP:0031406 name: Abnormal cytokine signaling def: "Any abnormality in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription." [] is_a: HP:0011111 ! Abnormality of immune serum protein physiology property_value: http://purl.org/dc/elements/1.1/date 2017-09-03T15:59:36Z xsd:dateTime created_by: peter [Term] id: HP:0031407 name: Impaired cytokine signaling def: "A defect or impairment in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription." [] synonym: "Cytokine signaling defect" EXACT [] is_a: HP:0031406 ! Abnormal cytokine signaling property_value: http://purl.org/dc/elements/1.1/date 2017-09-03T16:00:18Z xsd:dateTime created_by: peter [Term] id: HP:0031408 name: Increased proportion of CD25+ mast cells def: "An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain)." [PMID:15371947, PMID:18684881] comment: Mast cells do not normally express CD25, but neoplastic mast cells may be CD25-positive. is_a: HP:0100494 ! Abnormal mast cell morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-04T11:55:41Z xsd:dateTime created_by: peter [Term] id: HP:0031409 name: Abnormal lymphocyte physiology def: "Any anomaly of lymphocyte function." [] is_a: HP:0010978 ! Abnormality of immune system physiology is_a: HP:0011017 ! Abnormal cellular physiology property_value: http://purl.org/dc/elements/1.1/date 2017-09-04T12:08:45Z xsd:dateTime created_by: peter [Term] id: HP:0031410 name: Abnormal distribution of CD56 bright/dim natural killer cells def: "An abnormal distribution in the number of CD56 bright NK cells, as measured by flow cytometry. CD56, an adhesion molecule mediating homotypic adhesion, is used as a functional marker for NK cells." [PMID:19278419] comment: The cytotoxic activity of CD56 dim NK cells is significantly higher than that of CD56 bright cells (the CD56bright CD16 population being the less cytotoxic) and they contain much more perforin, granzymes and cytolytic granules. synonym: "Abnormal distribution of CD56 bright/dim NK cells" EXACT HP:0045077 [] is_a: HP:0500033 ! Abnormal natural killer subset distribution property_value: http://purl.org/dc/elements/1.1/date 2017-09-04T12:15:25Z xsd:dateTime created_by: peter [Term] id: HP:0031411 name: Abnormal chromosome morphology def: "Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order." [] xref: Fyler:4013 is_a: HP:0025461 ! Abnormal cell morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-04T15:22:36Z xsd:dateTime created_by: peter [Term] id: HP:0031412 name: Abnormal telomere morphology is_a: HP:0031411 ! Abnormal chromosome morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-04T15:24:23Z xsd:dateTime created_by: peter [Term] id: HP:0031413 name: Short telomere length def: "An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur." [] comment: Telomeres are made of repeating TTAGGG/AATCCC units. The overall length of the telomere is over 10 kb at birth and progressively declines with age. is_a: HP:0031412 ! Abnormal telomere morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-04T17:14:08Z xsd:dateTime created_by: peter [Term] id: HP:0031414 name: High serum calcifediol def: "An increased concentration of calcifediol in the blood. Calcifediol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3." [] synonym: "High serum 25-hydroxycholecalciferol" EXACT [] synonym: "High serum calcidiol" EXACT [] xref: RGD:sjwang is_a: HP:0100511 ! Abnormality of vitamin D metabolism property_value: http://purl.org/dc/elements/1.1/date 2017-09-12T01:49:36Z xsd:dateTime created_by: peter [Term] id: HP:0031415 name: High serum calcitriol def: "An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3." [PMID:24246681, RGD:sjwang] synonym: "High serum 1,25-dihydroxycholecalciferol" EXACT [] synonym: "High serum 1,25-dihydroxyvitamin D3" EXACT [] is_a: HP:0100511 ! Abnormality of vitamin D metabolism property_value: http://purl.org/dc/elements/1.1/date 2017-09-12T01:53:03Z xsd:dateTime created_by: peter [Term] id: HP:0031416 name: Abnormal nasal mucus secretion def: "Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose." [] is_a: HP:0002795 ! Functional respiratory abnormality property_value: http://purl.org/dc/elements/1.1/date 2017-09-12T02:03:01Z xsd:dateTime created_by: peter [Term] id: HP:0031417 name: Rhinorrhea def: "Increased discharge of mucus from the nose." [] synonym: "Nasal Discharge" EXACT HP:0045077 [] synonym: "Runny Nose" EXACT layperson [] is_a: HP:0031416 ! Abnormal nasal mucus secretion property_value: http://purl.org/dc/elements/1.1/date 2017-09-12T02:06:56Z xsd:dateTime created_by: peter [Term] id: HP:0031418 name: Increased body mass index def: "Abnormally increased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages." [PMID:17973940] synonym: "Increased BMI" EXACT HP:0045077 [] is_a: HP:0045081 ! Abnormality of body mass index property_value: http://purl.org/dc/elements/1.1/date 2017-09-12T02:12:54Z xsd:dateTime created_by: peter [Term] id: HP:0031419 name: Reduced sex -hormone binding protein level def: "A decreased concentration of sex-hormone binding protein in the circulation." [RGD:sjwang] comment: Sex hormone binding globulin (NCBI Gene 6462) is also known as sex hormone binding protein and androgen binding protein. synonym: "Reduced androgen-binding protein level" EXACT [] is_a: HP:0010876 ! Abnormal circulating protein level property_value: http://purl.org/dc/elements/1.1/date 2017-09-12T02:20:36Z xsd:dateTime created_by: peter [Term] id: HP:0031420 name: Small yellow foveal lesion with surrounding grey zone def: "A lesion that is observed following light damage to the macula. Damage to the retinal by exposure to intense visible light, usually the sun. Intense light exposure such as staring at the sun causes fine structural anomalies in the outer segments of the photoreceptors and the retinal pigment epithelium (RPE) cells of the macula. Symptoms usually develop within 1 to 4 h after exposure and include decreased vision, metamorphopsia, micropsia, and central or paracentral scotomas. Fundus examination typically shows a small yellow spot with a surrounding gray zone in the foveolar or parafoveolar area. Spontaneous evolution leads to the improvement of visual acuity." [ORCiD:0000-0002-2244-7917, PMID:25323644, PMID:28611647] synonym: "Laser pointer-induced maculopathy" RELATED [] synonym: "Laser pointer-induced retinopathy" RELATED [] synonym: "Light induced retinopathy" RELATED [] synonym: "Photic retinopathy" RELATED [] synonym: "Solar retinitis" RELATED [] synonym: "Solar retinopathy" RELATED [] is_a: HP:0030500 ! Yellow/white lesions of the macula property_value: http://purl.org/dc/elements/1.1/date 2017-09-12T02:33:25Z xsd:dateTime created_by: peter [Term] id: HP:0031421 name: Small superior frontal cortex def: "Reduced size of the superior frontal portion of the cerebral cortex." [RGD:gth] is_a: HP:0002472 ! Small cerebral cortex property_value: http://purl.org/dc/elements/1.1/date 2017-09-16T11:11:18Z xsd:dateTime created_by: peter [Term] id: HP:0031422 name: Abnormal morphology of the cerebellar cortex def: "Any structural anomaly of the cortex of the cerebellum." [] is_a: HP:0001317 ! Abnormal cerebellum morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-16T11:13:15Z xsd:dateTime created_by: peter [Term] id: HP:0031423 name: Small cerebellar cortex def: "Reduced size of the cerebellar cortex." [RGD:gth] is_a: HP:0031422 ! Abnormal morphology of the cerebellar cortex property_value: http://purl.org/dc/elements/1.1/date 2017-09-16T11:14:43Z xsd:dateTime created_by: peter [Term] id: HP:0031424 name: Abnormal circulating beta-C-terminal telopeptide level def: "A deviation from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation, a marker of the rate of bone turnover." [PMID:15309383, RGD:sjwang] synonym: "Abnormal circulating beta-CrossLaps level" EXACT [] synonym: "Abnormal circulating beta-CTx level" EXACT HP:0045077 [] is_a: HP:0010876 ! Abnormal circulating protein level property_value: http://purl.org/dc/elements/1.1/date 2017-09-16T11:18:31Z xsd:dateTime created_by: peter [Term] id: HP:0031425 name: Increased circulating beta-C-terminal telopeptide level def: "A abnormal elevation above the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation." [RGD:sjwang] synonym: "Increased circulating beta-CrossLaps level" EXACT [] synonym: "Increased circulating beta-CTx level" EXACT [] is_a: HP:0031424 ! Abnormal circulating beta-C-terminal telopeptide level property_value: http://purl.org/dc/elements/1.1/date 2017-09-16T11:22:41Z xsd:dateTime created_by: peter [Term] id: HP:0031426 name: Decreased circulating beta-C-terminal telopeptide level def: "A reduction from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation." [RGD:sjwang] synonym: "Decreased circulating beta-CrossLaps level" EXACT [] synonym: "Decreased circulating beta-CTx level" EXACT [] is_a: HP:0031424 ! Abnormal circulating beta-C-terminal telopeptide level property_value: http://purl.org/dc/elements/1.1/date 2017-09-16T11:22:56Z xsd:dateTime created_by: peter [Term] id: HP:0031427 name: Abnormal circulating osteocalcin level def: "A deviation from the normal concentration of osteocalcin in the blood circulation." [PMID:23737779, PMID:25577163, RGD:sjwang] comment: Osteocalcin, also known as bone gamma-carboxyglutamic acid (Gla) protein (BGP), is the most abundant noncollagenous protein of bone matrix. It is released by osteoblasts during bone formation and binds with the mineralized bone matrix. Osteocalcin has an endocrine function, regulating glucose and lipid homeostasis. is_a: HP:0003117 ! Abnormal circulating hormone level property_value: http://purl.org/dc/elements/1.1/date 2017-09-16T11:25:47Z xsd:dateTime created_by: peter [Term] id: HP:0031428 name: Increased circulating osteocalcin level def: "An elevated level of osteocalcin in the blood." [RGD:sjwang] is_a: HP:0031427 ! Abnormal circulating osteocalcin level property_value: http://purl.org/dc/elements/1.1/date 2017-09-16T11:32:28Z xsd:dateTime created_by: peter [Term] id: HP:0031429 name: Decreased circulating osteocalcin level def: "A reduced level of osteocalcin in the blood." [RGD:sjwang] is_a: HP:0031427 ! Abnormal circulating osteocalcin level property_value: http://purl.org/dc/elements/1.1/date 2017-09-16T11:33:11Z xsd:dateTime created_by: peter [Term] id: HP:0031430 name: Oligoclonal T cell expansion def: "The presence of a population of T cells with a restricted T cell receptor (TCR) repertoire derived from a limited number of TCR clones." [] is_a: HP:0011840 ! Abnormality of T cell physiology property_value: http://purl.org/dc/elements/1.1/date 2017-09-16T12:00:57Z xsd:dateTime created_by: peter [Term] id: HP:0031431 name: Persistent repetition of words def: "Repetitive use of words, phrases, intonation, or sounds of speech, often of the speechof others." [] is_a: HP:0030223 ! Perseveration property_value: http://purl.org/dc/elements/1.1/date 2017-09-16T12:14:57Z xsd:dateTime created_by: peter [Term] id: HP:0031432 name: Persistent repetition of actions def: "Repeated and inappropriate mechanical repetition of actions." [] is_a: HP:0030223 ! Perseveration property_value: http://purl.org/dc/elements/1.1/date 2017-09-16T12:17:41Z xsd:dateTime created_by: peter [Term] id: HP:0031433 name: Alexithymia def: "A deficit in emotional awareness characterized by difficulties in recognizing and expressing feelings and emotions manifested as a limited ability to respond to facial clues or other signs of emotions in others often accompanied by detached connections to others." [] synonym: "Unaware of others' emotions" EXACT layperson [] is_a: HP:0000729 ! Autistic behavior property_value: http://purl.org/dc/elements/1.1/date 2017-09-16T12:21:45Z xsd:dateTime created_by: peter [Term] id: HP:0031434 name: Abnormal speech prosody def: "An anomaly of the expressive patterns of speech that involve intonation, stress pattern, loudness variations, pausing, articulatory force, and rhythm." [] is_a: HP:0001608 ! Abnormality of the voice property_value: http://purl.org/dc/elements/1.1/date 2017-09-16T12:34:05Z xsd:dateTime created_by: peter [Term] id: HP:0031435 name: Monotonic speech def: "A speech pattern characterized by abnormally reduced or lacking variability of the pitch of the voice." [] is_a: HP:0031434 ! Abnormal speech prosody property_value: http://purl.org/dc/elements/1.1/date 2017-09-16T12:36:08Z xsd:dateTime created_by: peter [Term] id: HP:0031436 name: Increased pitch variability of speech def: "A speech pattern characterized by abnormally elevated variability of the pitch of the voice." [] is_a: HP:0031434 ! Abnormal speech prosody property_value: http://purl.org/dc/elements/1.1/date 2017-09-16T12:39:11Z xsd:dateTime created_by: peter [Term] id: HP:0031437 name: Pregnancy exposure def: "Exposure of pregnant women to toxins from any source, such as environmental toxins or chemicals, that may potentially cause problems such as miscarriage, preterm delivery, low birth weight, and, in some cases, developmental delays in infants." [ORCID:0000-0002-6387-4317] synonym: "Exposure during pregnancy" EXACT [] is_a: HP:0002686 ! Prenatal maternal abnormality property_value: http://purl.org/dc/elements/1.1/date 2017-09-16T13:01:58Z xsd:dateTime created_by: peter [Term] id: HP:0031438 name: Abnormal sex hormone-binding globulin level def: "A deviation from the normal concentration in the circulation of sex hormone-binding globulin, a circulating glycoprotein that transports testosterone and other steroids in the blood." [PMID:26761949] comment: Sex hormone-binding globulin (SHBG, Gene ID: 6462) binds the three sex hormones estrogen, dihydrotestosterone (DHT), and testosterone. Reduction in the level of SHBG can result in an increased level of free (unbound, and therefore active) sex hormones. is_a: HP:0025465 ! Abnormal circulating beta globulin level property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T12:29:14Z xsd:dateTime created_by: peter [Term] id: HP:0031439 name: Abnormal angiostatin level def: "A deviation from the normal concentration in the circulation of angiostatin, an endogenous angiogenesis inhibitor, which blocks the growth of new blood vessels." [PMID:12855585, PMID:23555012] comment: Angiostatin is an internal fragment of plasminogen that specifically inhibits endothelial cell proliferation and migration, and by promoting endothelial apoptosis. is_a: HP:0025465 ! Abnormal circulating beta globulin level property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T12:31:51Z xsd:dateTime created_by: peter [Term] id: HP:0031440 name: obsolete Abnormal tricuspid valve morphology is_obsolete: true replaced_by: HP:0001702 [Term] id: HP:0031441 name: Abnormal tricuspid valve annulus morphology def: "Any structural anomaly of the annulus of the tricuspid valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach." [] is_a: HP:0001702 ! Abnormal tricuspid valve morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T13:06:49Z xsd:dateTime created_by: peter [Term] id: HP:0031442 name: Abnormal tricuspid chordae tendinae morphology def: "Any structural anomaly of the chordae tendinae of the tricuspid valve. The chordae tendineae connect the papillary muscles to the tricuspid valve." [] is_a: HP:0001702 ! Abnormal tricuspid valve morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T13:37:09Z xsd:dateTime created_by: peter [Term] id: HP:0031443 name: Abnormal tricuspid valve leaflet morphology def: "Any structural anomaly of the leaflets (also known as cusps) of the tricuspid valve." [] is_a: HP:0001702 ! Abnormal tricuspid valve morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T13:42:38Z xsd:dateTime created_by: peter [Term] id: HP:0031444 name: Dilatation of the tricuspid annulus def: "An increase in the diameter of the ring (annulus) of the tricuspid valve." [PMID:3958362] is_a: HP:0031441 ! Abnormal tricuspid valve annulus morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T13:52:05Z xsd:dateTime created_by: peter [Term] id: HP:0031445 name: Oral mucosa nodule is_a: HP:0011830 ! Abnormal oral mucosa morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T14:16:57Z xsd:dateTime created_by: peter [Term] id: HP:0031446 name: Erosion of oral mucosa def: "Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion." [] is_a: HP:0011830 ! Abnormal oral mucosa morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T14:19:12Z xsd:dateTime created_by: peter [Term] id: HP:0031447 name: Penile freckling def: "Multiple pigmented macules located on the skin of the penis." [] is_a: HP:0000036 ! Abnormality of the penis property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T14:28:54Z xsd:dateTime created_by: peter [Term] id: HP:0031448 name: Herpetiform vesicles def: "Multiple vesicles distributed in mutiple distinct groups consisting of multiple adjacent vesicles." [] is_a: HP:0200037 ! Skin vesicle property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T14:44:17Z xsd:dateTime created_by: peter [Term] id: HP:0031449 name: Perineal hemangioma def: "Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals." [] is_a: HP:0001028 ! Hemangioma property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T14:49:42Z xsd:dateTime created_by: peter [Term] id: HP:0031450 name: Polycyclic def: "A distribution of skin lesions resembling multiple merged circles. For instance, this can be seen with multiple urticarial wheals as the individual, circular wheals resolve and merge." [] is_a: HP:0012836 ! Spatial pattern property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T15:00:02Z xsd:dateTime created_by: peter [Term] id: HP:0031451 name: Lower extremity subcutanous fat hypertrophy def: "An abnormal increase in the amount of subcutaneous fat in the legs." [PMID:24788242] is_a: HP:0009124 ! Abnormal adipose tissue morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T15:21:32Z xsd:dateTime created_by: peter [Term] id: HP:0031452 name: Lichenoid skin lesion def: "Mutliple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple). shiny, isolated, flat-topped papules and plaques." [PMID:22356325] is_a: HP:0011355 ! Localized skin lesion property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T15:34:38Z xsd:dateTime created_by: peter [Term] id: HP:0031453 name: Oral lichenoid lesion def: "Mutliple lesions of the oral mucosa resembling those characteristic of the disease lichen planus. These are symmetric reticular lesions that resemble a white, lacelike network, as well as by papules, plaques, erythematous lesions, and erosions." [PMID:22356325] is_a: HP:0011830 ! Abnormal oral mucosa morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T15:39:38Z xsd:dateTime created_by: peter [Term] id: HP:0031454 name: Apocrine hidrocystoma def: "A cystic lesions that forms a benign tumor of an apocrine sweat gland." [NCIT:C43342, PMID:17406184] is_a: HP:0012842 ! Skin appendage neoplasm property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T15:50:31Z xsd:dateTime created_by: peter [Term] id: HP:0031455 name: Presacral ganglioneuroma def: "A gangioleneuroma originating from sympathetic ganglion cells in the abdomen." [] is_a: HP:0003005 ! Ganglioneuroma property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T15:53:08Z xsd:dateTime created_by: peter [Term] id: HP:0031456 name: Ectopic pregnancy def: "A pregnancy in which the fertilized egg inserts in a location outside of the main cavity of the uterus (usually in the Fallopian tube)." [] is_a: HP:0002686 ! Prenatal maternal abnormality property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T15:55:36Z xsd:dateTime created_by: peter [Term] id: HP:0031457 name: Pulmonary opacity def: "Any lesion observed on an imaging study of the lung that is associated with increased density (usually showing as increased whiteness in the image)." [] comment: Increased pulmonary opacity is caused by a decrease in the ratio of gas to soft tissue (blood, lung parenchyma and stroma) in the lung. is_a: HP:0002088 ! Abnormal lung morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T15:59:06Z xsd:dateTime created_by: peter [Term] id: HP:0031458 name: Adenoiditis def: "An inflammation of the adenoid tissue." [] comment: Adenoiditis is usually caused by an infection. is_a: HP:3000033 ! Abnormality of nasopharyngeal adenoids property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T16:02:03Z xsd:dateTime created_by: peter [Term] id: HP:0031459 name: Soft tissue neoplasm def: "A tumor (abnormal growth of tissue) that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms." [NCIT:C3377] is_a: HP:0011793 ! Neoplasm by anatomical site property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T16:05:40Z xsd:dateTime created_by: peter [Term] id: HP:0031460 name: Benign muscle neoplasm def: "A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue [NCIT:C4882]." [NCIT:C4882] is_a: HP:0031459 ! Soft tissue neoplasm property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T16:08:33Z xsd:dateTime created_by: peter [Term] id: HP:0031461 name: Intramuscular Myxoma def: "A benign tumor that is usually solitary, painless, palpable mass that is firm in consistency and slightly movable and often fluctuant. It can occur in any location, but tends to involve the muscles of the thighs, buttocks, and shoulders. On microscopic examination, there is abundant mucoid material and relative hypo cellularity and loose reticulin fibers. Vascular structures are sparse. The cells have a stellate shape with small hyper chromatic pyknotic nuclei and scanty cytoplasm. Some myxomas may show focal areas of hyper cellularity. However absence of nuclear atypia, mitotic figures or necrosis helps to rule out malignancy." [PMID:27298930] synonym: "IM Myxoma" EXACT HP:0045077 [] is_a: HP:0031460 ! Benign muscle neoplasm property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T16:09:34Z xsd:dateTime created_by: peter [Term] id: HP:0031462 name: Musculotendinous retraction def: "Abnormal reduction in length of a tendon which tends to pull (retract) the attached muscle tissue with shortening of the muscle fibers often accompanied by atrophy and fatty degeneration of the affected muscle tissue." [] is_a: HP:0003549 ! Abnormality of connective tissue property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T16:13:40Z xsd:dateTime created_by: peter [Term] id: HP:0031463 name: Esophageal squamous papilloma def: "A rare benign epithelial tumor that is usually asymptomatic but can present with pyrosis and epigastric discomfort with or without dysphagia. Histopathologically, esophageal squamous papilloma has fingerlike projections lined with acanthotic stratified squamous epithelium with conservation of normal cellular with or without cellular atypia." [NCIT:C5344, PMID:27134598] is_a: HP:0100751 ! Esophageal neoplasm property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T16:18:41Z xsd:dateTime created_by: peter [Term] id: HP:0031464 name: Genital blistering def: "The presence of one or more bullae on the skin of the genital region, defined as fluid-filled blisters more than 5 mm in diameter with thin walls." [] is_a: HP:0008066 ! Abnormal blistering of the skin property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T16:21:13Z xsd:dateTime created_by: peter [Term] id: HP:0031465 name: Abnormal vasa vasorum morphology def: "A structural anomaly of vasa vasorum, which are defined as small blood vessels that supply or drain the walls of larger arteries and veins, delivering nutrients and oxygen as well as removing systemic waste products." [PMID:26006236] is_a: HP:0025015 ! Abnormal vascular morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T16:23:44Z xsd:dateTime created_by: peter [Term] id: HP:0031466 name: Impairment in personality functioning def: "A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning." [PMID:23902698] comment: The emergence of the self in childhood and adolescence is based on experience and perception, which then becomes organized into identity, which organizes further experience and perception. Identity is related to the individual's selfsameness and continuity in time. is_a: HP:0000708 ! Behavioral abnormality property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T16:30:45Z xsd:dateTime created_by: peter [Term] id: HP:0031467 name: Negative affectivity def: "A stable tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states." [PMID:23902698] is_a: HP:0031466 ! Impairment in personality functioning property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T16:33:45Z xsd:dateTime created_by: peter [Term] id: HP:0031468 name: Separation insecurity def: "Fears of rejection by and/or separation from significant others, associated with fears of excessive dependency and complete loss of autonomy." [PMID:23902698] is_a: HP:0031466 ! Impairment in personality functioning property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T16:39:37Z xsd:dateTime created_by: peter [Term] id: HP:0031469 name: Low self esteem def: "Negative opinion about oneself characterized by low self-confidence and exaggeratedly critical feelings about oneself." [] is_a: HP:0031466 ! Impairment in personality functioning property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T16:41:58Z xsd:dateTime created_by: peter [Term] id: HP:0031472 name: Risk taking def: "Engagement in dangerous, risky, and potentially self-damaging activities, unnecessarily and without regard to consequences; lack of concern for one's limitations and denial of the reality of personal danger." [PMID:23902698] is_a: HP:0000734 ! Disinhibition property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T16:44:22Z xsd:dateTime created_by: peter [Term] id: HP:0031473 name: Hostility def: "Persistent or frequent angry feelings; anger or irritability in response to minor slights and insults." [PMID:23902698] is_a: HP:0031466 ! Impairment in personality functioning property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T16:45:08Z xsd:dateTime created_by: peter [Term] id: HP:0031474 name: Pulmonary chondroma def: "A benign cartilaginous tumors of the lung." [PMID:27602219] is_a: HP:0100526 ! Neoplasm of the lung property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T16:50:53Z xsd:dateTime created_by: peter [Term] id: HP:0031475 name: Nonconvulsive status epilepticus def: "A cognitive or behavioral change that lasts for at least 30 minutes, with evidence of seizures on electroencephalogram." [PMID:17805245] is_a: HP:0002133 ! Status epilepticus property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T16:57:40Z xsd:dateTime created_by: peter [Term] id: HP:0031476 name: Abnormal buccal mucosa cell morphology def: "Any structural anomaly of the cells of the mucosa of the oral cavity in the region of the cheek (buccal mucosa cells)." [] comment: Buccal mucosa cells are easy to obtain and are a useful model of some other diseases. For instance, muccal mucosa cells from arrhythmogenic cardiomyopathy patients exhibit changes in the distribution of cell junction proteins similar to those seen in the heart. is_a: HP:0025461 ! Abnormal cell morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T22:04:47Z xsd:dateTime created_by: peter [Term] id: HP:0031477 name: obsolete Abnormal mitral valve morphology is_obsolete: true replaced_by: HP:0001633 [Term] id: HP:0031478 name: Abnormal mitral valve annulus morphology def: "Any structural anomaly of the annulus of the mitral valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach." [] is_a: HP:0001633 ! Abnormal mitral valve morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T22:28:08Z xsd:dateTime created_by: peter [Term] id: HP:0031479 name: Dilatation of the mitral annulus def: "An increase in the diameter of the ring (annulus) of the mitral valve." [] is_a: HP:0001633 ! Abnormal mitral valve morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T22:28:40Z xsd:dateTime created_by: peter [Term] id: HP:0031480 name: Abnormal mitral valve leaflet morphology def: "Any structural anomaly of the leaflets (also known as cusps) of the mitral valve." [] is_a: HP:0001633 ! Abnormal mitral valve morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T22:30:47Z xsd:dateTime created_by: peter [Term] id: HP:0031481 name: Abnormal mitral valve physiology def: "Any functional anomaly of the mitral valve." [] is_a: HP:0031650 ! Abnormal atrioventricular valve physiology property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T22:37:40Z xsd:dateTime created_by: peter [Term] id: HP:0031482 name: Abnormal regional left ventricular contraction def: "A wall motion abnormality observed upon left ventricular contraction that affects a specific region of the left ventricle." [] is_a: HP:0030872 ! Abnormal cardiac ventricular function property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T22:44:18Z xsd:dateTime created_by: peter [Term] id: HP:0031483 name: Reduced contraction of the left ventricular apex def: "Reduced wall motion (contraction) of the apex of the left ventricle. This manifestation can be observed on echocardiography." [PMID:8077532] is_a: HP:0031482 ! Abnormal regional left ventricular contraction property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T22:45:37Z xsd:dateTime created_by: peter [Term] id: HP:0031484 name: Cold-induced hemolysis def: "A form of hemolytic anemia that can be triggered by cold temperatures." [] is_a: HP:0001878 ! Hemolytic anemia property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T23:00:31Z xsd:dateTime created_by: peter [Term] id: HP:0031485 name: Subperiosteal bone formation def: "The formation of new bone along the cortex and underneath the periosteum of a bone." [] synonym: "Periosteal reaction" EXACT [] is_a: HP:0030313 ! Abnormal periosteum morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-17T23:02:59Z xsd:dateTime created_by: peter [Term] id: HP:0031486 name: Vascular malformation of the lip def: "An anomaly of blood vessels located in the lip." [] is_a: HP:0000159 ! Abnormal lip morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T00:21:32Z xsd:dateTime created_by: peter [Term] id: HP:0031487 name: Capillary malformation of the lip def: "A vascular malformation located in the lip that is characterized by\nectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis." [] is_a: HP:0031486 ! Vascular malformation of the lip property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T00:22:25Z xsd:dateTime created_by: peter [Term] id: HP:0031488 name: Arteriovenous malformation of the lip def: "A vascular malformation located in the lip that is characterized by direct blood shunting from an artery to a vein due to the absence of a capillary bed. The artery and vein can be directly connected by a fistula or indirectly connected by an abnormal vessel channel termed a nidus." [PMID:26618117] synonym: "Atypical connection between arteries and veins" EXACT layperson [https://orcid.org/0000-0002-6548-5200] is_a: HP:0031486 ! Vascular malformation of the lip property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T00:24:29Z xsd:dateTime created_by: peter [Term] id: HP:0031489 name: Venous malformation of the lip def: "A vascular malformation located in the lip that is related to abnormal vascular morphogenesis." [PMID:26618117] is_a: HP:0031486 ! Vascular malformation of the lip property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T00:26:17Z xsd:dateTime created_by: peter [Term] id: HP:0031490 name: Hemangioma of the lip def: "A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia." [PMID:26618117] is_a: HP:0031486 ! Vascular malformation of the lip property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T00:28:28Z xsd:dateTime created_by: peter [Term] id: HP:0031491 name: Continuous spike and waves during slow sleep def: "Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep." [PMID:28654799] synonym: "CSWS" EXACT HP:0045077 [] is_a: HP:0025373 ! Interictal EEG abnormality property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T00:34:28Z xsd:dateTime created_by: peter [Term] id: HP:0031492 name: Epithelial neoplasm def: "A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas [NCIT:C3709]." [NCIT:C3709] comment: Epithelial neoplasm is a benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas. is_a: HP:0011792 ! Neoplasm by histology property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T00:40:36Z xsd:dateTime created_by: peter [Term] id: HP:0031493 name: Glandular cell neoplasm def: "A tumor that arises from a gland cell." [NCIT:C7132] is_a: HP:0031492 ! Epithelial neoplasm property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T00:42:25Z xsd:dateTime created_by: peter [Term] id: HP:0031494 name: Ovarian mucinous tumor def: "Ovarian mucinous neoplasms consist of borderline tumors (tumors of low malignant potential, or LMP tumors), intraepithelial (non-invasive) carcinoma, and invasive carcinoma." [PMID:24777667] synonym: "Mucinous neoplasm of the ovary" EXACT [] is_a: HP:0031495 ! Mucinous neoplasm property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T00:44:01Z xsd:dateTime created_by: peter [Term] id: HP:0031495 name: Mucinous neoplasm is_a: HP:0031493 ! Glandular cell neoplasm property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T00:48:22Z xsd:dateTime created_by: peter [Term] id: HP:0031496 name: Mucinous cystic neoplasm of the pancreas def: "Mucin-producing and septated cyst-forming epithelial neoplasia of the pancreas with a distinctive ovarian-type stroma." [NCIT:C41247, PMID:21128317] is_a: HP:0031495 ! Mucinous neoplasm property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T00:49:14Z xsd:dateTime created_by: peter [Term] id: HP:0031497 name: Mucinous colorectal carcinoma def: "A subtype of colorectal carcinoma with mucin lakes." [] is_a: HP:0031495 ! Mucinous neoplasm property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T00:52:44Z xsd:dateTime created_by: peter [Term] id: HP:0031498 name: Mucinous gastric carcinoma def: "A poorly differentiated type of gastric carcinoma with a substantial amount of extracellular mucus (over 50% of tumor volume) within the tumor." [PMID:28501848] is_a: HP:0031495 ! Mucinous neoplasm property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T00:55:23Z xsd:dateTime created_by: peter [Term] id: HP:0031499 name: Appendiceal mucinous neoplasm def: "An epithelial neoplasm originating in the appendix and often associated with cystic dilation of the appendix due to accumulation of gelatinous material, morphologically referred to as mucoceles." [PMID:23439060] is_a: HP:0031495 ! Mucinous neoplasm property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T00:59:06Z xsd:dateTime created_by: peter [Term] id: HP:0031500 name: Abdominal mass def: "An abnormal enlargement or swelling in the abdomen." [] is_a: HP:0001438 ! Abnormality of abdomen morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T01:02:07Z xsd:dateTime created_by: peter [Term] id: HP:0031501 name: Pelvic mass def: "An abnormal enlargement or swelling in the pelvic region." [] is_a: HP:0001438 ! Abnormality of abdomen morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T01:03:03Z xsd:dateTime created_by: peter [Term] id: HP:0031502 name: Trophoblastic tumor def: "A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells [NCIT:C3422]." [NCIT:C3422] is_a: HP:0100728 ! Germ cell neoplasia property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T01:07:36Z xsd:dateTime created_by: peter [Term] id: HP:0031503 name: Night gasping def: "Waking up at night gasping for breath." [] is_a: HP:0002793 ! Abnormal pattern of respiration property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T01:14:49Z xsd:dateTime created_by: peter [Term] id: HP:0031504 name: Foamy urine def: "Urine has an increased amount of frothy fine bubbles." [] synonym: "Frothy urine" EXACT [] is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: http://purl.org/dc/elements/1.1/date 2017-09-18T01:16:55Z xsd:dateTime created_by: peter [Term] id: HP:0031505 name: Abnormal circulating thyroxine level def: "A deviation from the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3)." [] is_a: HP:0031508 ! Abnormal thyroid hormone level property_value: http://purl.org/dc/elements/1.1/date 2017-09-21T01:52:52Z xsd:dateTime created_by: peter [Term] id: HP:0031506 name: Increased circulating thyroxine level def: "An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3)." [] is_a: HP:0031505 ! Abnormal circulating thyroxine level property_value: http://purl.org/dc/elements/1.1/date 2017-09-21T01:54:51Z xsd:dateTime created_by: peter [Term] id: HP:0031507 name: Decreased circulating thyroxine level def: "A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3)." [] synonym: "Reduced T4 plasma level" EXACT HP:0045077 [] is_a: HP:0031505 ! Abnormal circulating thyroxine level property_value: http://purl.org/dc/elements/1.1/date 2017-09-21T01:55:27Z xsd:dateTime created_by: peter [Term] id: HP:0031508 name: Abnormal thyroid hormone level def: "Any deviation from the normal range of the hormones produced by the thyroid gland." [] is_a: HP:0002926 ! Abnormality of thyroid physiology is_a: HP:0003117 ! Abnormal circulating hormone level property_value: http://purl.org/dc/elements/1.1/date 2017-09-21T01:56:23Z xsd:dateTime created_by: peter [Term] id: HP:0031509 name: Dry nipple synonym: "Abnormally dry skin in the area of the nipple of the breast." EXACT [] is_a: HP:0004404 ! Abnormal nipple morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-21T02:19:46Z xsd:dateTime created_by: peter [Term] id: HP:0031510 name: Linear earlobe crease def: "A transverse linear fissure (crease) in the lobule of the ear." [] comment: This feature may be observed in Beckwith Wiedemann syndrome. is_a: HP:0000363 ! Abnormality of earlobe property_value: http://purl.org/dc/elements/1.1/date 2017-09-21T03:01:32Z xsd:dateTime created_by: peter [Term] id: HP:0031511 name: Diagonal earlobe crease def: "Diagonal earlobe creases run from the lower pole of the external meatus, diagonally backwards to the edge of the lobe at approximately 45 degrees." [PMID:2713193] is_a: HP:0000363 ! Abnormality of earlobe property_value: http://purl.org/dc/elements/1.1/date 2017-09-21T03:03:14Z xsd:dateTime created_by: peter [Term] id: HP:0031512 name: Abnormal cutaneous collagen fibril morphology comment: An anomaly of the collagen fibers located in the skin. is_a: HP:0011121 ! Abnormality of skin morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-22T01:31:38Z xsd:dateTime created_by: peter [Term] id: HP:0031513 name: Luse bodies def: "Fusiform collagen fibers with abnormally long spacing (exceeding 100 nm) between electron-dense bands." [] comment: The periodicity of normal collagen fibers is substantially lower than that of Luse bodies. is_a: HP:0031512 ! Abnormal cutaneous collagen fibril morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-22T01:34:13Z xsd:dateTime created_by: peter [Term] id: HP:0031514 name: Increased proportion of exhausted T cells def: "An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells." [PMID:26544946] is_a: HP:0025540 ! Abnormal T cell subset distribution property_value: http://purl.org/dc/elements/1.1/date 2017-09-22T02:12:49Z xsd:dateTime created_by: peter [Term] id: HP:0031515 name: Abnormal meiosis def: "Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells." [] is_a: HP:0012243 ! Abnormal reproductive system morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-22T02:18:52Z xsd:dateTime created_by: peter [Term] id: HP:0031516 name: Oocyte arrest at metaphase I def: "Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage." [PMID:27273344] comment: An essential feature of successful mammalian reproduction is the fusion of a sperm with a metaphase II oocyte. Oocytes are first arrested at prophase I and resume meiosis in response to luteinizing hormone (LH). Following spindle assembly and extrusion of the first polar body, oocytes are again arrested at metaphase II until fertilization. is_a: HP:0031515 ! Abnormal meiosis property_value: http://purl.org/dc/elements/1.1/date 2017-09-22T02:21:05Z xsd:dateTime created_by: peter [Term] id: HP:0031517 name: Verruciform xanthoma def: "A papillary or cauliflower-like growth characterized by the presence of foamy histiocytes within the elongated dermal papillae forms." [PMID:24574658] comment: This lesion is seen chiefly in the oral mucosa. is_a: HP:0000991 ! Xanthomatosis property_value: http://purl.org/dc/elements/1.1/date 2017-09-22T02:25:50Z xsd:dateTime created_by: peter [Term] id: HP:0031518 name: Absent posterior alpha rhythm def: "Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity: Alpha activity refers to activity in the range of 8-13 Hz and alpha rhythm is the activity of 8-13 Hz with specific characteristics as defined above." [PMID:24574560] is_a: HP:0025373 ! Interictal EEG abnormality property_value: http://purl.org/dc/elements/1.1/date 2017-09-22T02:28:47Z xsd:dateTime created_by: peter [Term] id: HP:0031519 name: Cauliflower deformity of dermal collagen fibrils def: "An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electorn microscopy." [PMID:3224502] is_a: HP:0031512 ! Abnormal cutaneous collagen fibril morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-22T02:32:20Z xsd:dateTime created_by: peter [Term] id: HP:0031520 name: Groin pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the groin region." [] is_a: HP:0012531 ! Pain property_value: http://purl.org/dc/elements/1.1/date 2017-09-22T02:40:10Z xsd:dateTime created_by: peter [Term] id: HP:0031521 name: Vaginal clear cell adenocarcinoma def: "A type of adenocarcinoma originating in the vagina and characterized by large cells with moderate to abundant clear cytoplasm." [NCIT:C7735, PMID:11444201] synonym: "Clear cell adenocarcinoma of the vagina" EXACT [] is_a: HP:0100650 ! Vaginal neoplasm property_value: http://purl.org/dc/elements/1.1/date 2017-09-23T01:45:41Z xsd:dateTime created_by: peter [Term] id: HP:0031522 name: Cervical clear cell adenocarcinoma def: "A type of adenocarcinoma originating in the cervix and characterized by large cells with moderate to abundant clear cytoplasm." [NCIT:C6344] synonym: "Clear cell carcinoma of cervix" EXACT [] is_a: HP:0100650 ! Vaginal neoplasm property_value: http://purl.org/dc/elements/1.1/date 2017-09-23T01:51:13Z xsd:dateTime created_by: peter [Term] id: HP:0031523 name: Salivary gland oncocytoma def: "A benign epithelial neoplasm composed of layers of oncocytes (small round nucleus, micro-granular, eosinophilic cytoplasm with numerous tightly-packed mitochondria." [NCIT:C5932, PMID:20181155] comment: Most cases of salivary gland oncocytoma occur in the parotid gland. synonym: "Parotid oncocytoma" RELATED [] is_a: HP:0100684 ! Salivary gland neoplasm property_value: http://purl.org/dc/elements/1.1/date 2017-09-23T01:57:47Z xsd:dateTime created_by: peter [Term] id: HP:0031524 name: Ampulla of Vater carcinoma def: "A carcinoma originating in the ampulla of Vater (also known as the hepatopancreatic duct), which is formed by the union of the pancreatic duct and the common bile duct." [NCIT:C3908] is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract property_value: http://purl.org/dc/elements/1.1/date 2017-09-23T02:03:06Z xsd:dateTime created_by: peter [Term] id: HP:0031525 name: Keratoacanthoma def: "Keratoacanthoma (KA) is a common benign epithelial tumour that originates from the pilosebaceous glands. In most cases, it is characterized by rapid evolution, followed by spontaneous resolution over 4 to 6 months. KA usually presents as a solitary flesh-coloured nodule with a central keratin plug on the sun-exposed skin of elderly individuals." [NCIT:C3146, PMID:24376301] is_a: HP:0008069 ! Neoplasm of the skin property_value: http://purl.org/dc/elements/1.1/date 2017-09-23T02:14:55Z xsd:dateTime created_by: peter [Term] id: HP:0031526 name: Subretinal fluid def: "Edema/fluid accumulating between the retinal pigment epithelium and Bruch's membrane." [] synonym: "Sub-retinal fluid" EXACT [] is_a: HP:0000479 ! Abnormal retinal morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T00:47:09Z xsd:dateTime created_by: peter [Term] id: HP:0031527 name: Intraretinal fluid def: "Edema/fluid accumulating within the retinal layers." [] synonym: "Intra-retinal fluid" EXACT [] is_a: HP:0000479 ! Abnormal retinal morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T00:47:48Z xsd:dateTime created_by: peter [Term] id: HP:0031528 name: Subretinal deposits def: "Deposits accumulating between the outer retina and the retinal pigment epithelium." [] is_a: HP:0000479 ! Abnormal retinal morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T00:49:01Z xsd:dateTime created_by: peter [Term] id: HP:0031529 name: Focal subretinal deposits def: "Deposits accumulating between the outer retina and the retinal pigment epithelium and that have a focal distribution." [] is_a: HP:0031528 ! Subretinal deposits property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T00:49:30Z xsd:dateTime created_by: peter [Term] id: HP:0031530 name: Multifocal subretinal deposits def: "Deposits accumulating between the outer retina and the retinal pigment epithelium and that are distributed with multiple foci." [] is_a: HP:0031528 ! Subretinal deposits property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T00:49:30Z xsd:dateTime created_by: peter [Term] id: HP:0031531 name: Sub-RPE deposits def: "Deposits accumulating between the retinal pigment epithelium and Bruch's membrane." [] comment: This feature is related to Subretinal hyporeflective spaces on macular OCT. is_a: HP:0000479 ! Abnormal retinal morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T00:50:33Z xsd:dateTime created_by: peter [Term] id: HP:0031532 name: Focal sub-RPE deposits def: "Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in a single focus." [] is_a: HP:0031531 ! Sub-RPE deposits property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T00:51:20Z xsd:dateTime created_by: peter [Term] id: HP:0031533 name: Multifocal sub-RPE deposits def: "Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in multiple foci." [] is_a: HP:0031531 ! Sub-RPE deposits property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T00:51:20Z xsd:dateTime created_by: peter [Term] id: HP:0031534 name: Passive dorsiflexion of the 5th finger more than 90 degrees def: "An abnormally increased ability to bend (dorsiflex) one's fifth finger. To assess this feature, the examiner requests to proband to extend the elbows,to bend the wrist back so that it forms a ninety degree angle to the forearm, and to extend the fingers. Then, the proband is requested to bend the fifth finger back as far as is possible without discomfort. If the angle of the fifth finger exceeds 90 degrees, this is considered to be abnormal." [PMID:24358988] comment: This feature is tested on the right and left side and if positive, each feature contributes one point to the Beighton score. is_a: HP:0004207 ! Abnormal 5th finger morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T00:56:23Z xsd:dateTime created_by: peter [Term] id: HP:0031535 name: Increased theta frequency activity in EEG def: "Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution." [] is_a: HP:0025373 ! Interictal EEG abnormality property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T01:03:08Z xsd:dateTime created_by: peter [Term] id: HP:0031536 name: Separate origin of the left anterior descending and left circumflex artery def: "Anomalous coronary origin whereby the left anterior descending (LAD) and the left circumflex artery (LCX) arise separately. Normally, these arteries arise from a common stem, the left main coronary artery (LMCA)." [PMID:27358682] is_a: HP:0011636 ! Abnormal coronary artery origin property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T01:16:29Z xsd:dateTime created_by: peter [Term] id: HP:0031537 name: Anomalous origin of the left circumflex artery from the right coronary artery def: "An abnormal origin of the left circumflex artery (LCX) from the right coronary artery. Normally, the left anterior descending (LAD) and the LCX arise from a common stem, the left main coronary artery (LMCA)." [PMID:27358682] is_a: HP:0025505 ! Anomalous origin of the circumflex artery from the right sinus of Valsalva property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T01:19:28Z xsd:dateTime created_by: peter [Term] id: HP:0031538 name: Abnormal dermoepidermal junction morphology def: "Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments." [PMID:1097542] is_a: HP:0011121 ! Abnormality of skin morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T01:32:24Z xsd:dateTime created_by: peter [Term] id: HP:0031539 name: Linear IgA deposits along the epidermal basement membrane zone def: "Presence of IgA antibodies in the dermoepidermal junction that are dsitributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy." [PMID:24160488] is_a: HP:0031538 ! Abnormal dermoepidermal junction morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T01:33:51Z xsd:dateTime created_by: peter [Term] id: HP:0031540 name: Linear IgG deposits along the epidermal basement membrane zone def: "Presence of IgG antibodies in the dermoepidermal junction that are dsitributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy." [PMID:24160488] is_a: HP:0031538 ! Abnormal dermoepidermal junction morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T01:35:53Z xsd:dateTime created_by: peter [Term] id: HP:0031541 name: Linear C3 deposits along the epidermal basement membrane zone def: "Presence of complement C3 in the dermoepidermal junction that are dsitributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy." [PMID:24160488] is_a: HP:0031538 ! Abnormal dermoepidermal junction morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T01:36:15Z xsd:dateTime created_by: peter [Term] id: HP:0031542 name: Myelin-like whorls in vacuolated fibers def: "Muscle fibers contain one or more vacuoles (membrane-bound cavity) associated with collections of membranes arranged in a whorl-like (spiral or circular) manner." [PMID:18974994] synonym: "Myelin-like whorls in vacuolated fibres" EXACT HP:0045076 [] is_a: HP:0004303 ! Abnormal muscle fiber morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T01:38:55Z xsd:dateTime created_by: peter [Term] id: HP:0031544 name: Elevated propionylcarnitine level def: "An elevated level of propionylcarnitine in the circulation. Propionylcarnitine is present in high abundance in the urine of patients with Methylmalonyl-CoA mutase (MUT) deficiency." [] is_a: HP:0004359 ! Abnormal circulating fatty-acid concentration property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T01:57:19Z xsd:dateTime created_by: peter [Term] id: HP:0031545 name: Abnormally low T cell receptor excision circle level def: "Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells." [PMID:22001765] comment: T-cell receptor excision circle (TRECs) are extrachromosomal DNA byproducts of T-cell receptor rearrangement and are nonreplicative. TREC analysis provides a very specific assessment of T-cell recovery (eg, after hematopoietic cell transplantation) or numerical T-cell competence is_a: HP:0011839 ! Abnormal T cell count property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T22:20:27Z xsd:dateTime created_by: peter [Term] id: HP:0031546 name: Cardiac conduction abnormality def: "Any anomaly of the progression of electrical impulses through the heart." [] comment: The conduction system of the heart initiates and coordinates the electric signal that causes the rhythmic and synchronized contractions of the atria and ventricles. In higher vertebrates, this system comprises the sinuatrial (SAN) and atrioventricular nodes (AVN) and the wiring of the ventricles. The latter comprises the atrioventricular bundle (AVB), the left and right bundle branches (BBs), and the peripheral ventricular conduction system (PVCS). synonym: "Abnormality of cardiac conduction system" EXACT [] synonym: "Heart conduction disorder" EXACT [] is_a: HP:0030956 ! Abnormality of cardiovascular system electrophysiology property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T22:36:44Z xsd:dateTime created_by: peter [Term] id: HP:0031547 name: Abnormal QT interval def: "Any anomaly of the time interval between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG)." [] is_a: HP:0003115 ! Abnormal EKG property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T22:39:38Z xsd:dateTime created_by: peter [Term] id: HP:0031548 name: Follicular infundibulum tumor def: "A cutaneous adnexal neoplasm with variable clinical presentation. It tends to be located in the head and neck and the presentation is papulonodular, scaly, asymptomatic, measuring up to 1-2cm, simulating a basal cell carcinoma." [NCIT:C4469, PMID:25387502] synonym: "Basal cell hamartoma with follicular differentiation" EXACT [] is_a: HP:0012842 ! Skin appendage neoplasm property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T23:07:25Z xsd:dateTime created_by: peter [Term] id: HP:0031549 name: Lymphocytoma cutis def: "Lymphocytoma cutis, or Spiegler-Fendt sarcoid, is classed as one of the pseudolymphonas,1 referring to inflammatory disorders in which the accumulation of lymphocytes on the skin resemble, clinically and histopathologically, cutaneous lymphomas. Careful clinical evaluation, histopathological and immunohistochemical exams may be needed to make the correct diagnosis." [PMID:24346899] synonym: "Skin pseudolymphoma" EXACT [] synonym: "Spiegler-Fendt sarcoid" EXACT [] is_a: HP:0008069 ! Neoplasm of the skin property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T23:14:34Z xsd:dateTime created_by: peter [Term] id: HP:0031550 name: Abnormal flow cytometry test rest def: "Any abnormal result of flow cytometry, a method that suspends cells in a stream of fluid and passes them through an electronic detection apparatus in order to assess cell count or measure biomarkers or surface molecules." [] is_a: HP:0025354 ! Abnormal cellular phenotype property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T23:18:11Z xsd:dateTime created_by: peter [Term] id: HP:0031551 name: Reduced cell surface marker level def: "Reduced level of a protein that is normally present on the cell surface as assessed by flow cytometry." [] is_a: HP:0031550 ! Abnormal flow cytometry test rest property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T23:18:36Z xsd:dateTime created_by: peter [Term] id: HP:0031552 name: Reduced fibroblast surface marker level def: "Reduced level of a protein that is normally present on the fibroblast surface as assessed by flow cytometry." [] is_a: HP:0031551 ! Reduced cell surface marker level property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T23:21:50Z xsd:dateTime created_by: peter [Term] id: HP:0031553 name: Reduced granulocyte surface marker level def: "Reduced level of a protein that is normally present on the granulocyte surface as assessed by flow cytometry." [] is_a: HP:0031551 ! Reduced cell surface marker level property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T23:21:50Z xsd:dateTime created_by: peter [Term] id: HP:0031554 name: Reduced granulocyte CD55 level def: "Reduced level of CD55 on the granulocyte surface as assessed by flow cytometry." [] is_a: HP:0031553 ! Reduced granulocyte surface marker level property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T23:23:06Z xsd:dateTime created_by: peter [Term] id: HP:0031555 name: Reduced granulocyte CD59 level def: "Reduced level of CD59 on the granulocyte surface as assessed by flow cytometry." [] is_a: HP:0031553 ! Reduced granulocyte surface marker level property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T23:23:06Z xsd:dateTime created_by: peter [Term] id: HP:0031556 name: Reduced granulocyte CD16 level def: "Reduced level of CD16 on the granulocyte surface as assessed by flow cytometry." [] is_a: HP:0031553 ! Reduced granulocyte surface marker level property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T23:23:06Z xsd:dateTime created_by: peter [Term] id: HP:0031557 name: Reduced fibroblast CD55 level def: "Reduced level of CD55 on the fibroblast surface as assessed by flow cytometry." [] is_a: HP:0031552 ! Reduced fibroblast surface marker level property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T23:23:25Z xsd:dateTime created_by: peter [Term] id: HP:0031558 name: Reduced fibroblast CD59 level def: "Reduced level of CD59 on the fibroblast surface as assessed by flow cytometry." [] is_a: HP:0031552 ! Reduced fibroblast surface marker level property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T23:23:25Z xsd:dateTime created_by: peter [Term] id: HP:0031559 name: Reduced fibroblast CD16 level def: "Reduced level of CD16 on the fibroblast surface as assessed by flow cytometry." [] is_a: HP:0031552 ! Reduced fibroblast surface marker level property_value: http://purl.org/dc/elements/1.1/date 2017-09-24T23:23:25Z xsd:dateTime created_by: peter [Term] id: HP:0031560 name: Coronary cameral fistula def: "An abnormal communication between coronary artery and a cardiac chamber." [PMID:26240737] comment: Coronary cameral fistulas are usually congenital and asymptomatic in majority of patients. xref: Fyler:2233 is_a: HP:0011641 ! Coronary artery fistula property_value: http://purl.org/dc/elements/1.1/date 2017-09-29T11:27:41Z xsd:dateTime created_by: peter [Term] id: HP:0031561 name: Coronary cameral fistula to right ventricle def: "An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle." [MP:0011684] is_a: HP:0031560 ! Coronary cameral fistula property_value: http://purl.org/dc/elements/1.1/date 2017-09-29T11:29:11Z xsd:dateTime created_by: peter [Term] id: HP:0031562 name: Balanced double aortic arch def: "A type of double aortic arch in which the two branches are of equal size. In most cases of double aortic arch, the right aortic arch is larger and located higher than the left aortic arch." [PMID:22073330] xref: Fyler:2780 is_a: HP:0011590 ! Double aortic arch property_value: http://purl.org/dc/elements/1.1/date 2017-09-29T11:31:18Z xsd:dateTime created_by: peter [Term] id: HP:0031563 name: Coronary arteriovenous fistula def: "An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation." [MP:0011656] xref: Fyler:2240 is_a: HP:0011641 ! Coronary artery fistula property_value: http://purl.org/dc/elements/1.1/date 2017-09-29T12:05:45Z xsd:dateTime created_by: peter [Term] id: HP:0031564 name: Bronchial isomerism def: "An anomalous mirror-imaged arrangement of some bronchial structures. Right isomerism is defined as a subset of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures (vice versa for left isomerism)." [PMID:21731561] is_a: HP:0031853 ! Isomerism property_value: http://purl.org/dc/elements/1.1/date 2017-09-29T22:43:03Z xsd:dateTime created_by: peter [Term] id: HP:0031565 name: Abdominal situs ambiguus def: "An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements." [Fyler:3817] xref: Fyler:3817 is_a: HP:0011620 ! Abnormality of abdominal situs property_value: http://purl.org/dc/elements/1.1/date 2017-09-29T22:56:16Z xsd:dateTime created_by: peter [Term] id: HP:0031566 name: Abnormal pulmonary valve cusp morphology def: "Any structural anomaly of the pulmonary valve leaflets." [Fyler:1652] xref: Fyler:1652 is_a: HP:0001641 ! Abnormal pulmonary valve morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-29T23:10:58Z xsd:dateTime created_by: peter [Term] id: HP:0031567 name: Abnormal aortic valve cusp morphology def: "Any structural anomaly of the aortic valve leaflets." [Fyler:1480] xref: Fyler:1480 is_a: HP:0001646 ! Abnormal aortic valve morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-29T23:13:33Z xsd:dateTime created_by: peter [Term] id: HP:0031568 name: Thickened aortic valve cusp def: "An abnormally increased thickness of a leaflet of the aortic valve." [Fyler:1486, PMID:9360334] xref: Fyler:1486 is_a: HP:0031567 ! Abnormal aortic valve cusp morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-29T23:18:10Z xsd:dateTime created_by: peter [Term] id: HP:0031569 name: Absent aortic valve cusps def: "A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva." [Fyler:1484, PMID:2274446] synonym: "Absent aortic valve" EXACT [] xref: Fyler:1484 is_a: HP:0031567 ! Abnormal aortic valve cusp morphology property_value: http://purl.org/dc/elements/1.1/date 2017-09-29T23:21:20Z xsd:dateTime created_by: peter [Term] id: HP:0031570 name: Tessier number 0 facial cleft def: "A Number 0 Tessier cleft is a true median cleft lip with a broad columella and bifid nasal tip. The alveolar cleft is between the central incisors. The nasal septum may be thickened, duplicated, or absent. The nasal bridge is usually broad with associated orbital hypertelorism. The midline soft tissue anomaly may range from a mild broadening of the philtrum or there may be a true median cleft lip. The columella and nasal tip are typically bifid and broadened with a midline depression. The alae nasi are intact but laterally displaced. The nose appears shortened in the vertical dimension." [PMID:2503273] is_a: HP:0100629 ! Midline facial cleft property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:22:09Z xsd:dateTime created_by: peter [Term] id: HP:0031571 name: Paramedian facial cleft def: "A type of facial cleftlocated near to but not directly on the midline of the face." [] is_a: HP:0002006 ! Facial cleft property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:27:05Z xsd:dateTime created_by: peter [Term] id: HP:0031572 name: Tessier number 1 facial cleft def: "As seen in a typical cleft lip, a cleft of the lip is found in the region of the cupid's bow. The nostril is cleft through the alar dome and extends above onto the nasal dorsum. It passes medial to a normal, but dys- topic, medial canthus. There is an alveolar cleft between the central and lateral incisors that extends above through the pyriform margin lateral to the anterior nasal spine; the nasal septum is not involved. The bony cleft extends through the nasal bone or between the junction of the nasal bone and frontal process of the maxilla. Above the cleft lip, the clefting of the alar dome is associated with deviation to the opposite side of the shortened and broadened columella and nasal tip. Extension of the soft tissue cleft onto the nasal dorsum can be manifest as a series of vertical soft tissue furrows and ridges. Vertical inner canthal dysto- pia and severe telecanthus mark the superior aspect of the Number 1 facial cleft. A cranial soft tissue extension characterized by a tongue-like projection of the frontal hairline delineates the number 13 cleft. Skeletal clefting of the maxilla may extend posteriorly to form a complete cleft of the hard and soft palate. The maxilla is hypoplastic in all three dimensions. There is a keel-shaped alveolus and anterior open bite. Normal septation is preserved between the nasal cavity and the hypoplastic maxillary antrum on the affected side. Distortion of the nasal skeleton produces gross flattening of the nasal dorsum. There is asymmetry of the pterygoid plates, of the greater and lesser wings of the sphenoid, and of the floor of the anterior cranial fossa. The distortion of the cranial base may result in a mild plagiocephaly." [PMID:2503273] is_a: HP:0031571 ! Paramedian facial cleft property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:27:58Z xsd:dateTime created_by: peter [Term] id: HP:0031573 name: Tessier number 2 facial cleft def: "As is typically seen in isolated cleft cases, a cleft of the lip is present. There is hypoplasia, but not true notching of the ala nasi with flattening of the lateral part of the nose. The nasal root is broadened, with lateral displacement of the inner canthus. The palpebral fissure and lacrimal drainage system are not disturbed. The alveolar cleft is through the lateral incisor area and extends to the pyriform aperture. There is normal septation between the nasal cavity and maxillary sinus. Notching at the junction between the nasal bone is present, as is a broad, flat frontal process of the maxilla. Transverse ethmoid enlargement produces orbital hypertelorism. Above the cleft of the lip and palate is a true broad cleft of the nostril that is medial to the intact, but laterally displaced, tail of the alar cartilage. A shallow soft tissue groove extends superiorly to the asymmetrically widened nasal root. The lacrimal system, palpebral fissures, and eyebrows remain intact. The alveolar cleft extends posteriorly as a complete unilateral cleft of the hard and soft palate. The nasal septum is intact but deviated to the opposite side. The nasal cavity remains separated from the normally pneumatized, although hypoplastic, maxilla on the cleft side. Above the nasomaxillary notching, the ethmoid sinus is less well developed, and there is no pneumatization of the frontal sinus on this side. Anterior rotation of the greater and lesser wings of the sphenoid occurs on the cleft side in relation to the narrower orbit and smaller ethmoid sinus. There is mild asymmetry of the anterior cranial fossa, which is narrower on the cleft side. The cranium is brachycephalic with marked occipital flattening." [PMID:2503273] is_a: HP:0031571 ! Paramedian facial cleft property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:36:28Z xsd:dateTime created_by: peter [Term] id: HP:0031574 name: Orbital cleft def: "A facial cleft characterized by involvment of the orbit." [PMID:2503273] is_a: HP:0002006 ! Facial cleft property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:37:52Z xsd:dateTime created_by: peter [Term] id: HP:0031575 name: Tessier number 3 facial cleft def: "As in the Number 1 and Number 2 clefts, this cleft extends through the lip in the region of the typical cleft lip; however, it does not extend through the base. The cleft continues superiorly to involve the inner canthus and lower eyelid medial to the inferior lacrimal punctum, thereby disrupting the nasolacrimal system. Microphthalmia may be present. The alveolar cleft is between the lateral incisor and the canine. Absent septation between the nasal cavity and maxillary antrum, together with the distortion of the frontal process of the maxilla and lacrimal fossa, produces direct communication between the orbit, maxillary sinus, and nose. There is hypoplasia of the soft tissue margins of the cleft in the vertical dimension. This produces extreme soft tissue deficiency between the alar base and the cleft of the medial aspect of the lower eyelid. The inferior lacrimal punctum is evident at the lateral margin of the lower eyelid cleft. The lacrimal drainage system ends as an opening directly onto the cheek without communication into the nasal cavity. The globe is normal in size, but it is displaced inferiorly and laterally. The nasal septum shows the characteristic distortion seen in typical cleft lip and palate. There is absence of septation between the nasal cavity on the cleft side and the maxilla. The maxilla is hypoplastic in three dimensions, with a marked reduction in pneumatization. Superior extension of the skeletal clefting into the medial portion of the orbital floor and into the inferior orbital rim in the region of the frontal process of the maxilla allows direct communication between the orbit above and the nasomaxillary region below. There is mild narrowing of the ethmoid sinus and of the body of the sphenoid on the cleft side. The pterygoid process appears anatomically normal, but less displaced from the midline compared with that of the noncleft side. Both the orbit and the floor of the anterior cranial fossa are inferiorly displaced." [PMID:2503273] is_a: HP:0031574 ! Orbital cleft property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:38:50Z xsd:dateTime created_by: peter [Term] id: HP:0031576 name: Tessier number 4 facial cleft def: "The cleft lip is midway between the philtral ridge and the commissure of the mouth. The cleft is lateral to the normally shaped and placed nasal ala and passes onto the cheek. The cleft extends through the lower eyelid lateral to the punctum. The lacrimal system and inner canthus are normal. Microphthalmia may be present. The alveolar cleft passes between the lateral incisor and canine, as in the Number 3 cleft. The cleft passes around the pyriform aperture and continues through the portion of the maxillary sinus medial to the infraorbital foramen. The cleft terminates at the medial end of the inferior orbital rim. There is severe vertical soft tissue deficiency in a Number 4 cleft, with the medial margins of the cleft lip extending directly into the medially placed cleft of the lower eyelid. Within the medial segment of the right-sided cleft lip, muscle elements are apparently absent. Muscle bunching is noted in the ipsilateral lateral lip segment, as is seen in a typical unilateral cleft lip. The anatomically normal nasal ala is superiorly displaced in association with a severe deficiency in the overall nasal length. Marked dystopia of the right globe results in its inferior displacement into the medially deficient orbital floor and inferior rim. Both globes are otherwise normal. The complete palatal cleft passes through the maxilla medial to the infraorbital foramen and extends to the medial portion of the inferior orbital rim without evidence of an intact maxillary sinus. Bony septation persists medially, thereby separating the nasal cavity from the orbit, maxillary sinus, and mouth, which are contiguous. Marked midfacial hypoplasia is present. The cleft is manifest as asymmetry of the body of the sphenoid; it is smaller on the right, with asymmetric placement of the pterygoid plates relative to the midline. The orbital floor cleft has no communication with the inferior orbital fissure. The cleft does not extend to the skull base, but there is marked facial asymmetry associated with plagiocephaly." [PMID:2503273] is_a: HP:0031574 ! Orbital cleft property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:40:39Z xsd:dateTime created_by: peter [Term] id: HP:0031577 name: Tessier number 5 facial cleft def: "The cleft of the lip is just medial to the oral commissure and extends across the cheek as a furrow. It ends as a cleft at the junction of the middle and lateral third of the lower eyelid. Microphthalmia is frequently present. The alveolar cleft is through the premolar region and extends superiorly through the orbit at the inferolateral part of the rim and floor. There is a vertical soft tissue deficiency between the lateral portion of the lip and the lower eyelid cleft. The left side of the nose shows vertical shortening, and the left alar base is displaced superiorly. Facial asymmetry secondary to the skeletal abnormality is reflected by a vertical orbital dystopia. However, bothglobes are normal, and there is no abnormality of the upper eyelids, eyebrow, forehead, or frontal hairline. The skeletal clefts vary, ranging from a narrow skeletal furrow that traverses the anterior maxillary wall as on the rightto a broad cleft of the maxilla lateral to the infraorbital foramen and maxillary sinus. This latter cleft enters the inferolateral orbital rim and floor without posterior communication with the inferior orbital fissure on the left side. Medial collapse of the lateral maxillary segments is present bilaterally, with reduction in the transverse dimensions of the maxillary arch. Manifestations of the skeletal disturbance in the sphenoid include a shortening and thickening of the lateral orbital walls in the region of the greater wing and mild asymmetric placement of the pterygoid plates relative to the midline. The right-sided pterygoid plates are smaller and closer to the midline. There is minimal asymmetry of the cranial base and calvarium." [PMID:2503273] is_a: HP:0031574 ! Orbital cleft property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:42:32Z xsd:dateTime created_by: peter [Term] id: HP:0031578 name: Tessier number 6 facial cleft def: "A facial cleft extending from the zygomatic arch to the eye. This zygomaticomaxillary cleft is similar to that typically found in Treacher Collins syndrome. The overlying tissue shows a vertical sclerodermic furrow radiating from the labial commissure or the angle of the mandible across the cheek to a coloboma of the lower eyelid between the middle and lateral one-third. Microphthalmia is not observed. The skeletal cleft is between the maxilla and zygoma; it passes through the inferolateral orbital rim to enter the inferior orbital fissure. No alveolar cleft is present. The zygomatic arch is intact. The soft tissue furrow, which is more apparent on the right, radiates from the oral commissure toward the lateral two-thirds of the lower eyelid. The antimongoloid obliquity of the palpebral fissures is associated with laterally placed lower eyelid clefts and some ectropion. A left-sided anophthalmia is accompanied by adjacent soft tissue hypoplasia and is reflected in a short palpebral fissure, enophthalmos, and minor ptosis of the eyebrow. No abnormality is present in the alveolar arch except for some tilting of the occlusal plane secondary to hypoplasia of the left side of the maxilla. There is a vertical bony groove in the region of the zygomaticomaxillary suture that ends in the inferolateral portion of a small bony orbit. More laterally, the remainder of the zygomatic body and arch is normal in both shape and dimension. The lateral orbital floor is downslanting but intact, and it lacks direct communication with the temporal or infratemporal fossae. The hypoplasia of the left side of the maxilla and orbit is associated with a reduction in the transverse and anteroposterior dimensions of the anterior cranial fossa; mild asymmetry of the middle cranial fossa and calvarium is present. No significant asymmetry of size, shape, or position is present in the sphenoid." [PMID:2503273] is_a: HP:0100731 ! Transverse facial cleft property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:43:34Z xsd:dateTime created_by: peter [Term] id: HP:0031579 name: Tessier number 7 facial cleft def: "The temporozygomatic Number 7 cleft is found in both Treacher Collins syndrome and hemifacial microsomia. Soft tissue manifestations include macrostomia, malformations of the external and middle ear, temporalis muscle, variable involvement of the seventh cranial nerve (in hemifacial microsomia), and abnormalities of the preauricular hair in Treacher Collins syndrome. The skeletal cleft is through the pterygomaxillary junction, and vertical maxillary hypoplasia is present. In addition, abnormality of the mandibular ramus, coronoid, and condyle and absence of the zygomatic arch are typically present. A soft tissue furrow extends from the macrostomia laterally and superiorly across the cheek toward the preauricular hairline. The lower eyelids are intact. The anatomy of the external ear is normal, and there are no preauricular tags. Bony clefting is through the pterygomaxillary junction with hypoplasia of the alveolar process in the molar region, thereby producing a posterior open bite. The maxilla is hypoplastic, although the maxillary sinuses are symmetrically pneumatized. The hypoplastic zygomatic body arches upward, but then it takes a downward course and is severely malformed and displaced. The zygoma is continuous posteriorly with an apparently normal zygomatic process of the temporal bone. The mandibular condyle and coronoid process are hypoplastic and asymmetric. There is no antegonial notching of the mandible. Marked cranial base asymmetry, with tilting and asymmetric positioning of the temporomandibular articulations, is present. The anatomy of the sphenoid is abnormal, especially on the right where there is no recognizable medial or lateral pterygoid plate." [PMID:2503273] is_a: HP:0100731 ! Transverse facial cleft property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:45:44Z xsd:dateTime created_by: peter [Term] id: HP:0031580 name: Tessier number 8 facial cleft def: "The frontozygomatic or Number 8 cleft is found in both Treacher Collins syndrome and the Goldenhar variant of hemifacial microsomia. Skeletal defects are more prominent in Treacher Collins syndrome, whereas the soft tissue clefting is more typical in cases of ''Goldenhar syndrome''. Soft tissue clefting presents as a dermatocele, a true lateral eyelid coloboma with absence of the outer canthus, and anomalies of the globe itself, especially epibulbar cysts in patients with Goldenhar syndrome. The frontozygomatic bony cleft produces absence of the lateral orbital rim; this border now is formed by the hypoplastic greater wing of the sphenoid. The absence of bony support for the outer canthus produces lateral canthal dystopia and the characteristic antimongoloid slant of the palpebral fissures. Secondary to the bony deficiency in the lateral orbital wall and floor, there is soft tissue continuity between the orbit, temporal fossa, and infratemporal region. Preauricular hairline indicators delineate the Number 8 cleft as the first of the northbound clefts. Complete absence of the bony lateral orbital wall and rim constitute the skeletal element of the Number 8 cleft. The lateral border of the orbit is formed by the greater wing of the sphenoid from which small spicules of bone, which represent the rudimentary zygoma, may be found in Treacher Collins syndrome. The symmetry of the facial anomalies is reflected in the apparently normal symmetric anterior and middle cranial fossae." [PMID:2503273] is_a: HP:0100731 ! Transverse facial cleft property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:46:25Z xsd:dateTime created_by: peter [Term] id: HP:0031581 name: Tessier number 9 facial cleft def: "This is an upper lateral orbital cleft. The soft tissue deformity is in the lateral one-third of the upper eyelid, and the bony cleft is through the superolateral orbital angle. Microphthalmia is present. The superolateral bony deficiency of the orbits allows a lateral displacement of the globes. The lateral one-third of the upper eyelid and the outer canthus are distorted, thus preventing apposition to the globe. The upper eyelid does not have a true cleft. A soft tissue furrow radiates superiorly and posterisphenoid is symmetric and normal. Mild cranial base asymmetry is reflected in the pterygoid plates. The left pair is more laterally displaced from the midline. Skull vault plagiocephaly is evident with an apparent reduction in the anteroposterior dimension of the anterior cranial fossa." [PMID:2503273] is_a: HP:0031574 ! Orbital cleft property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:48:09Z xsd:dateTime created_by: peter [Term] id: HP:0031582 name: Tessier number 10 facial cleft def: "In a Number 10 Tessier cleft there is an upper central orbital cleft with a cleft of the middle one-third of the upper eyelid, which often results in total ablepharia. The eyebrow is disrupted, being virtually absent medially, whereas the lateral portion angles upward toward the frontal hairline. There may be ocular anomalies, including colobomata of the iris. The skeletal cleft is through the midportion of the supraorbital rim, the adjacent frontal bone, and the orbital roof lateral to the supraorbital nerve. A frontal encephalocele frequently occupies the frontal bony cleft. The palpebral fissure is grossly elongated with an amblyopic eye displaced inferiorly and laterally. There is also a divergent squint of the right eye. The eyebrow is deficient medially and becomes thinned out laterally , where it is contiguous with a broad downward and forward projection of the frontotemporal hairline (this may be seen in both the Number 9 and 10 clefts.) A broad frontal encephalocele bulges forward from the middle one-third of the right forehead, supraorbital ridge, and orbital roof. The bony cleft, through which the frontal encephalocele presents, involves the anterior half of the orbital roof, the supraorbital rim, and two-thirds of the vertical height of the frontal bone lateral to the supraorbital nerve. The bony orbit is inferiorly displaced and widened with the lateral orbital wall shortened and laterally deviated. Similar distortion of the anterior cranial fossa is evident, being broader and more flattened on the affected side. The calvarium above the level of the cleft and the cranial base below is symmetric." [PMID:2503273] is_a: HP:0031574 ! Orbital cleft property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:49:41Z xsd:dateTime created_by: peter [Term] id: HP:0031583 name: Tessier number 11 facial cleft def: "An upper medial orbital cleft produces a cleft of the medial one-third of the upper eyelid that extends through the eyebrow into the frontal hairline. The skeletal element of the cleft in the region of the frontal process of the maxilla may either pass lateral to the ethmoid, through the supraorbital rim, or it may pass through the ethmoidal labyrinth to produce orbital hypertelorism. This cleft usually accompanies the Number 3 cleft. The soft tissue features include a cleft of the medial portion of the upper eyelid, an irregularity in hair orientation at the medial end of the eyebrow, and a long tongue-like projection of the frontal hairline onto the forehead. There is a mild flattening of the frontal process of the maxilla and extensive pneumatization of both the ethmoidal and frontal sinuses, both of which are more prominent on the cleft side. No bony clefting of the supraorbital rim or frontal bone is evident. The cranial base and sphenoid architecture, including the pterygoid processes, are symmetric and normal." [PMID:2503273] is_a: HP:0031574 ! Orbital cleft property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:51:12Z xsd:dateTime created_by: peter [Term] id: HP:0031584 name: Tessier number 12 facial cleft def: "There is a soft tissue cleft medial to the inner canthus with a cleft of the root of the eyebrow. The frontal process of the maxilla is flat and broadened, and the ethmoid labyrinth is increased in tranverse dimension, thereby producing orbital hypertelorism. The cribriform plate is of normal width. The frontal sinus is enlarged. Even though the frontal bone is flattened, bony clefts with encephalocele have not been observed. There is a lateral displacement of the inner canthus with a mild thinning, aplasia, or irregularity of the medial end of the eyebrow. There are no eyelid clefts. The soft tissue contour of the forehead is normal, with only a short downward prolongation of the paramedian frontal hairline to mark the superior extent of the soft tissue cleft. Flattening of the frontal process of the maxilla, an increase in the transverse dimension of the ethmoid sinus, and a laterally convex bowing of the medial orbital wall produce orbital hypertelorism. Superiorly there is a minor flattening of the frontal bone medially, and the nasofrontal angle is somewhat obtuse. The extensive pneumatization of the sinuses on the cleft side extends backward through the frontal and ethmoid sinuses and into the sphenoid sinus. The anatomy of the sphenoid, including the pterygoid processes, is otherwise normal. The anterior and middle cranial fossae floors are both broadened on the cleft side with minor widening of the cribriform plate." [PMID:2503273] is_a: HP:0031571 ! Paramedian facial cleft property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:52:42Z xsd:dateTime created_by: peter [Term] id: HP:0031585 name: Tessier number 13 facial cleft def: "There is a paramedian frontal encephalocele and a soft tissue cleft that passes medial to an intact eyebrow. The frontal bone shows a paramedian bony cleft with an associated encephalocele. The olfactory groove, cribriform plate, and ethmoid sinus are all increased in transverse diameter, resulting in hypertelorism. The cleft extends medially to the undisturbed eyebrow to end in a short paramedian frontal widow's peak. The bony cleft begins in the region of the nasal bone and extends superiorly through the full height of the frontal bone. Posteriorly, the cleft extends through the cribriform plate and ethmoid sinus as far as the lesser wing and body of the sphenoid. The pterygoid processes are anatomically normal, but they are displaced laterally from the midline on the cleft side. There is orbital hypertelorism below and asymmetry of the floor of the anterior cranial fossa above." [PMID:2503273] is_a: HP:0031571 ! Paramedian facial cleft property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:54:25Z xsd:dateTime created_by: peter [Term] id: HP:0031586 name: Tessier number 14 facial cleft def: "This midline cranial cleft usually occurs with a midline facial cleft that completes a median craniofacial dysraphia. A broad nasal root and bifid nose are associated with orbital hypertelorism and a median frontal encephalocele. The frontal bone abnormality varies from a minor flattening to a large midline defect. There is an increased distance between the olfactory grooves. The crista galli is widened, duplicated, or in some cases absent. Marked inferior prolapse of the enlarged ethmoid bone occurs with orbital hypertelorism. The severe orbital hypertelorism is associated with a broad flattening of the glabella and extreme lateral displacement of the inner canthi. The periorbita, including the eyelids and eyebrows, are otherwise normal. A long midline projection of the frontal hairline marks the superior extent of the soft tissue features of this midline cranial cleft. The median frontal defect delineates the region through which the frontal encephalocele herniates. The lateral segments of the frontal bone sweep upward from the region of the intact glabella and are flattened laterally. No pneumatization of the frontal sinus is evident. The crista galli and the perpendicular plate of the ethmoid are bifid. Just as the ethmoid, including the cribriform plate, is widened and caudally displaced, the sphenoid sinus is broadened and extensively, but symmetrically pneumatized. The lateral rotation of the greater and lesser wings of the sphenoid results in a relative shortening of the anteroposterior dimension of the middle cranial fossa. The floor of the anterior cranial fossa is upslanting from its medial aspect to its lateral aspect, with a harlequin appearance on the coronal scan." [PMID:2503273] is_a: HP:0100629 ! Midline facial cleft property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:56:19Z xsd:dateTime created_by: peter [Term] id: HP:0031587 name: Tessier number 30 facial cleft def: "A lower midline facial cleft, also known as the median mandibular cleft. It is a rare anomaly, which may be limited to a defect in the soft tissue of the lower lip. However, in the more severe form, it may extend into the bony mandibular symphysis." [PMID:22529554] is_a: HP:0100629 ! Midline facial cleft property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T12:58:17Z xsd:dateTime created_by: peter [Term] id: HP:0031588 name: Unhappy demeanor def: "A conspicuously unhappy disposition characterized by negative assumptions, self-defeating talk, fear of failure, and negative ruminations about past events." [] is_a: HP:0100851 ! Abnormal emotion/affect behavior property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T13:22:11Z xsd:dateTime created_by: peter [Term] id: HP:0031589 name: Suicidal ideation def: "Frequent thinking about or preoccupation with killing onself." [] is_a: HP:0100851 ! Abnormal emotion/affect behavior property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T13:24:50Z xsd:dateTime created_by: peter [Term] id: HP:0031590 name: Asthenopia def: "Eye strain, i.e., a feeling of fatigue or discomfort of the eyes related to 'overuse' of the eyes in activities such as reading or working at the computer and often accompanied by lacrimation or headache." [] synonym: "Eye strain" EXACT layperson [] is_a: HP:0012373 ! Abnormal eye physiology property_value: http://purl.org/dc/elements/1.1/date 2017-10-14T13:28:32Z xsd:dateTime created_by: peter [Term] id: HP:0031591 name: Enlarged Eustachian valve def: "An abnormally large Eustachian valve (postnatally). The Eustachian valve is also known as the valve of the inferior vena cava, and is an embryologic remnant of the valve of the inferior vena cava." [PMID:12484622] comment: During fetal life, the eustachian valve directs oxygen-rich blood from the inferior vena cava (IVC) toward the foramen ovale and away from the tricuspid valve. After the closure of the foramen ovale, it does not have a specific function. In echocardiographic examinations, the eustachian valve may appear as a thin flap originating from the orifice of the IVC, or it may be totally absent. Sometimes it may appear as a rigid, elongated structure in the inferior portion of the right atrium or as a membranous, undulating, echogenic mass within the right atrial cavity. synonym: "Enlarged inferior vena cava valve" EXACT [] synonym: "Giant Eustachian valve" NARROW [] is_a: HP:0025576 ! Abnormal inferior vena cava morphology property_value: http://purl.org/dc/elements/1.1/date 2017-10-15T12:51:38Z xsd:dateTime created_by: peter [Term] id: HP:0031592 name: Situs inversus with levocardia def: "Situs inversus of thoracic and abdominal viscera with the heart remaining normally situated on the left; usually associated with congenital cardiac abnormalities such as transposition of the great vessels and/or spleen defects including asplenia or polysplenia." [Fyler:0102, Fyler:102, MP:0011253] is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments property_value: http://purl.org/dc/elements/1.1/date 2017-10-15T13:19:50Z xsd:dateTime created_by: peter [Term] id: HP:0031593 name: Abnormal PR interval def: "An anomaly of the PR interval, which is the portion of the ECG from the end of the P wave to the beginning of the QRS complex. A normal PR interval in adults is from 0.12-0.2 seconds." [] comment: The PR interval begins at the onset of the P wave and ends at the onset of the QRS complex. This interval reflects the time the impulse takes to reach the ventricles from the sinus node. In contrast, the PR segment begins at the endpoint of the P wave and ends at the onset of the QRS complex. It reflects the conduction from the atrioventricular node, down the bundle of His and through the bundle branches to the muscle. is_a: HP:0003115 ! Abnormal EKG property_value: http://purl.org/dc/elements/1.1/date 2017-10-15T13:27:21Z xsd:dateTime created_by: peter [Term] id: HP:0031594 name: PR segment depression def: "A reduction in voltage of the PR segment below baseline." [] comment: The differential diagnosis includes normal variant, pericarditis or atrial infarct. synonym: "PR interval depression" EXACT [] synonym: "PTa depression" EXACT [] is_a: HP:0031596 ! Abnormal PR segment property_value: http://purl.org/dc/elements/1.1/date 2017-10-15T13:31:27Z xsd:dateTime created_by: peter [Term] id: HP:0031595 name: Abnormal P wave def: "Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria." [] comment: P waves are normally upright in leads I and II and inverted in aVR. is_a: HP:0003115 ! Abnormal EKG property_value: http://purl.org/dc/elements/1.1/date 2017-10-15T13:31:59Z xsd:dateTime created_by: peter [Term] id: HP:0031596 name: Abnormal PR segment def: "An anomaly of the PR segment, which begins at the endpoint of the P wave and ends at the onset of the QRS complex. The PR segment is normally flat and isoelectric." [] comment: The PR interval begins at the onset of the P wave and ends at the onset of the QRS complex. This interval reflects the time the impulse takes to reach the ventricles from the sinus node. In contrast, the PR segment begins at the endpoint of the P wave and ends at the onset of the QRS complex. It reflects the conduction from the atrioventricular node, down the bundle of His and through the bundle branches to the muscle. is_a: HP:0003115 ! Abnormal EKG property_value: http://purl.org/dc/elements/1.1/date 2017-10-15T13:35:56Z xsd:dateTime created_by: peter [Term] id: HP:0031597 name: PR segment elevation def: "An increase in voltage of the PR segment below baseline." [] synonym: "PR interval elevation" EXACT [] synonym: "PTa elevation" EXACT [] is_a: HP:0031596 ! Abnormal PR segment property_value: http://purl.org/dc/elements/1.1/date 2017-10-15T13:45:12Z xsd:dateTime created_by: peter [Term] id: HP:0031598 name: Notched P wave def: "V-shaped cut (notch) in the middle of the P wave." [] comment: One may observe notched P-waves in the frontal plane in partial interatrial block. is_a: HP:0031595 ! Abnormal P wave property_value: http://purl.org/dc/elements/1.1/date 2017-10-15T13:53:22Z xsd:dateTime created_by: peter [Term] id: HP:0031599 name: P mitrale def: "A broad (120 ms or longer in duration) and bifid P-wave in EKG lead II." [] is_a: HP:0031595 ! Abnormal P wave property_value: http://purl.org/dc/elements/1.1/date 2017-10-15T14:01:02Z xsd:dateTime created_by: peter [Term] id: HP:0031600 name: P wave inversion def: "P wave below insteadof above the baseline. P-wave inversion in the inferior leads may indicate a non-sinus origin of the P waves." [] is_a: HP:0031595 ! Abnormal P wave property_value: http://purl.org/dc/elements/1.1/date 2017-10-15T14:02:33Z xsd:dateTime created_by: peter [Term] id: HP:0031601 name: P pulmonale def: "The presence of tall, peaked P waves in EKG lead II." [] comment: P pulomonale may indicate right atrial enlargement, usually due to pulmonary hypertension. is_a: HP:0031595 ! Abnormal P wave property_value: http://purl.org/dc/elements/1.1/date 2017-10-15T14:02:48Z xsd:dateTime created_by: peter [Term] id: HP:0031602 name: Abnormal mucociliary clearance def: "An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary \nbeating." [] synonym: "Abnormal mucociliary transport" EXACT [] is_a: HP:0002795 ! Functional respiratory abnormality property_value: http://purl.org/dc/elements/1.1/date 2017-10-22T12:41:51Z xsd:dateTime created_by: peter [Term] id: HP:0031603 name: Impaired nasal mucociliary clearance def: "An abnormally increased amount of time required to clear mucus (and substances contained in the mucus) from the nasal mucosa. The nasal mucociliary clearance (NMC) system functions to transport the mucous layer lining the nasal epithelium towards the naso pharynx by ciliary beating in a metachronous fashion at a frequency of 7-16 Hz. NMC depends upon two principal components: physicochemical qualities and quantities of mucus and the properties of cilia that propel it. NMC is considered to be representative of pulmonary clearance. normal NMC time is determined to be up to 20 minutes. Duration of 30 minutes is considered as the cutoff point that discriminates normal subjects from subjects with impaired NMC. NMC can be measured by determination of the transport time of markers that are placed on the nasal mucosa including saccharine, radioactive markers, and dyes." [] synonym: "Abnormal saccharine test" NARROW [] is_a: HP:0031602 ! Abnormal mucociliary clearance property_value: http://purl.org/dc/elements/1.1/date 2017-10-22T12:44:48Z xsd:dateTime created_by: peter [Term] id: HP:0031604 name: Agenesis of the carotid canal def: "A developmental defect characterized by the lack of formation of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse." [PMID:21339912] comment: This abnormally is associated with Internal carotid artery (ICA) agenesis, since the ICA normally enters the skull through the carotid canal. synonym: "Bony carotid canal agenesis" EXACT [] is_a: HP:0009911 ! Abnormal temporal bone morphology property_value: http://purl.org/dc/elements/1.1/date 2017-10-22T13:26:34Z xsd:dateTime created_by: peter [Term] id: HP:0031605 name: Abnormality of fundus pigmentation def: "Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve." [] comment: Alterations in pigmentation of the fundus are typically not a result of changes in the retina. The variable pigmentation within both RPE and choroid combine to change profoundly the appearance of the normal fundus between individuals. This is partly a racial characteristic and partly genetic. is_a: HP:0001098 ! Abnormal fundus morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-01T11:02:43Z xsd:dateTime created_by: peter [Term] id: HP:0031606 name: Retinal cotton wool spot def: "Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels." [PMID:6169833] is_a: HP:0030506 ! Yellow/white lesions of the retina property_value: http://purl.org/dc/elements/1.1/date 2017-12-02T11:22:46Z xsd:dateTime created_by: peter [Term] id: HP:0031607 name: Pelvic organ prolapse def: "Weakness in the supporting structures of the pelvic floor allowing the pelvic viscera to descend or one or more of the pelvic organs drop from their normal position." [PMID:21505577, Sanford:krageth] is_a: HP:0001438 ! Abnormality of abdomen morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-09T14:09:47Z xsd:dateTime created_by: peter [Term] id: HP:0031609 name: Geographic atrophy def: "Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium." [ORCID:0000-0003-0986-4123, PMID:24158023] is_a: HP:0001105 ! Retinal atrophy property_value: http://purl.org/dc/elements/1.1/date 2017-12-10T14:57:12Z xsd:dateTime created_by: peter [Term] id: HP:0031610 name: Recurrent shoulder dislocation def: "Shoulder dislocation occurring repeated times." [PMID:29197942, Sanford:krageth] synonym: "Multiple shoulder dislocation" EXACT layperson [] is_a: HP:0003834 ! Shoulder dislocation is_a: HP:0031869 ! Recurrent joint dislocation property_value: http://purl.org/dc/elements/1.1/date 2017-12-11T10:45:31Z xsd:dateTime created_by: peter [Term] id: HP:0031611 name: Sub-inner limiting membrane hemorrhage def: "A type of intraretinal hemorrhage that is located in the superficial retina between the inner limiting membrane and the retinal nerve fiber layer." [PMID:17229799] comment: Preretinal hemorrhages usually occur at the interface between the posterior hyaloid and inner limiting membrane (ILM). Less frequently, they are located in the superficial retina between the ILM and the retinal nerve fibre layer. These sharply demarcated, dome-shaped hemorrhages show a predilection for the macular region and consequently lead to severe visual impairment. synonym: "Sub-ILM haemorrhage" EXACT HP:0045077 [] synonym: "Sub-ILM hemorrhage" EXACT HP:0045077 [] synonym: "Sub-inner limiting membrane haemorrhage" EXACT HP:0045076 [] is_a: HP:0000573 ! Retinal hemorrhage property_value: http://purl.org/dc/elements/1.1/date 2017-12-16T12:30:06Z xsd:dateTime created_by: peter [Term] id: HP:0031613 name: Inferior chorioretinal coloboma def: "Absence of a region of the retina, retinal pigment epithelium, and choroid at the lower part of the fundus." [] is_a: HP:0000567 ! Chorioretinal coloboma property_value: http://purl.org/dc/elements/1.1/date 2017-12-16T12:49:21Z xsd:dateTime created_by: peter [Term] id: HP:0031614 name: Inferior retinal coloboma def: "A notch or cleft of the lower part of the retina." [] is_a: HP:0000480 ! Retinal coloboma property_value: http://purl.org/dc/elements/1.1/date 2017-12-16T12:58:27Z xsd:dateTime created_by: peter [Term] id: HP:0031615 name: Hypopyon def: "Presence of pus (appears as a white fluid) producing a fluid level in the inferior part of the anterior chamber." [] is_a: HP:0000593 ! Abnormal anterior chamber morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-16T13:13:37Z xsd:dateTime created_by: peter [Term] id: HP:0031616 name: Anterior chamber flare def: "An abnormal appearance of the beam of light traveling through the anterior chamber of the eye in a slit lamp examination. The flare is produced by an increased concentration of proteins in the aqueous humor in the anterior chamber." [PMID:16196117] comment: Anterior chamber flare grade 0 (i.e., a normal finding) should be coded as the negation of this term. is_a: HP:0000593 ! Abnormal anterior chamber morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-16T13:18:34Z xsd:dateTime created_by: peter [Term] id: HP:0031618 name: Anterior chamber flare grade 1+ def: "Faint anterior chamber flare." [PMID:16196117] is_a: HP:0031616 ! Anterior chamber flare property_value: http://purl.org/dc/elements/1.1/date 2017-12-16T13:29:05Z xsd:dateTime created_by: peter [Term] id: HP:0031619 name: Anterior chamber flare grade 2+ def: "Moderate anterior chamber flare (iris and lens details clear)." [PMID:16196117] is_a: HP:0031616 ! Anterior chamber flare property_value: http://purl.org/dc/elements/1.1/date 2017-12-16T13:29:55Z xsd:dateTime created_by: peter [Term] id: HP:0031620 name: Anterior chamber flare grade 3+ def: "Marked anterior chamber flare (iris and lens details hazy)." [PMID:16196117] is_a: HP:0031616 ! Anterior chamber flare property_value: http://purl.org/dc/elements/1.1/date 2017-12-16T13:31:07Z xsd:dateTime created_by: peter [Term] id: HP:0031621 name: Anterior chamber flare grade 4+ def: "Intense anterior chamber flare (fibrin/plastic aqueous)." [PMID:16196117] is_a: HP:0031616 ! Anterior chamber flare property_value: http://purl.org/dc/elements/1.1/date 2017-12-16T13:32:13Z xsd:dateTime created_by: peter [Term] id: HP:0031622 name: Brown anomaly def: "An ocular motility defect where the affected eye(s) does not elevate in adduction but has full depression in adduction. It can be congenital or acquired from injury to or defect of the superior oblique tendon or trochlea and has a positive forced duction test result." [ORCID:0000-0003-0986-4123, PMID:28841851] synonym: "Brown syndrome" EXACT [] is_a: HP:0025068 ! Incomitant strabismus property_value: http://purl.org/dc/elements/1.1/date 2017-12-16T13:37:10Z xsd:dateTime created_by: peter [Term] id: HP:0031623 name: Brow ptosis def: "Drooping of the upper eyebrow below the superior orbital rim." [] comment: Eybrow ptosis can be caused by age-related changes in the periorbital soft tissues and soft tissues of the face. synonym: "Drooping brow" EXACT layperson [] is_a: HP:0000534 ! Abnormal eyebrow morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-16T13:48:49Z xsd:dateTime created_by: peter [Term] id: HP:0031624 name: Moderate myopia def: "A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters." [] is_a: HP:0000545 ! Myopia property_value: http://purl.org/dc/elements/1.1/date 2017-12-16T14:07:21Z xsd:dateTime created_by: peter [Term] id: HP:0031625 name: Pseudoaneurysm comment: Pseudoaneurysms may occur under 4 circumstances: (1) after catheterization; (2) at the site of native artery and synthetic graft anastomosis (eg, aortofemoral bypass graft); (3) trauma; and (4) infection (eg, mycotic PSA). synonym: "A contained rupture of an artery with a disruption in all 3 layers of the arterial wall." EXACT [PMID:17515479] is_a: HP:0002617 ! Dilatation property_value: http://purl.org/dc/elements/1.1/date 2017-12-16T15:55:45Z xsd:dateTime created_by: peter [Term] id: HP:0031626 name: Coronary ostial atresia def: "Absence of the normal opening of a coronary ostium. There are normally two coronary ostia, which are site of origin of the main left or right main coronary artery and are located in the ascending aorta just above the aortic valve." [] comment: Coronary ostial atresia is usually associated with ischemic manifestations synonym: "Atresia of coronary ostium" EXACT [] is_a: HP:0011636 ! Abnormal coronary artery origin property_value: http://purl.org/dc/elements/1.1/date 2017-12-16T16:26:05Z xsd:dateTime created_by: peter [Term] id: HP:0031627 name: Globus pallidus calcification def: "Pathological deposition of calcium salts in the globus pallidus." [] is_a: HP:0002453 ! Abnormal globus pallidus morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T00:15:04Z xsd:dateTime created_by: peter [Term] id: HP:0031628 name: Aborted sudden cardiac death def: "Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it." [ORCID:0000-0001-5835-5515, PMID:25187745] is_a: HP:0001695 ! Cardiac arrest property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T00:22:44Z xsd:dateTime created_by: peter [Term] id: HP:0031629 name: Impaired tandem gait def: "Reduced ability to walk in a straight line while placing the feet heel to toe." [] synonym: "Clumsy tandem walking" EXACT layperson [] is_a: HP:0001288 ! Gait disturbance property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T00:38:29Z xsd:dateTime created_by: peter [Term] id: HP:0031630 name: Abnormal subpleural morphology def: "Any structural anomaly located between the pleura and the chest wall." [] is_a: HP:0002088 ! Abnormal lung morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T00:44:36Z xsd:dateTime created_by: peter [Term] id: HP:0031631 name: Subpleural honeycombing def: "So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space." [PMID:23220902] comment: Pathologically, honeycombing represents destroyed and fibrotic lung tissue that contains numerous cystic airspaces with thick fibrous walls. is_a: HP:0031630 ! Abnormal subpleural morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T00:47:40Z xsd:dateTime created_by: peter [Term] id: HP:0031632 name: Anomalous origin of the right subclavian artery from the descending aorta def: "Abnormal origin of the right subclavian artery from the descending aorta. The right subclavian artery normally arises from the brachiocephalic trunk, which divides into the right common carotid artery and right subclavian artery." [] is_a: HP:0031251 ! Abnormal subclavian artery morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T01:01:57Z xsd:dateTime created_by: peter [Term] id: HP:0031633 name: Isolation of the left subclavian artery def: "The loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus." [MP:0011745] xref: Fyler:2732 is_a: HP:0031251 ! Abnormal subclavian artery morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T01:04:45Z xsd:dateTime created_by: peter [Term] id: HP:0031634 name: Anomalous origin of the left common carotid artery from the main pulmonary artery def: "The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the main pulmonary artery." [PMID:27974985] is_a: HP:0430021 ! Abnormal common carotid artery morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T12:26:12Z xsd:dateTime created_by: peter [Term] id: HP:0031635 name: Anomalous origin of the left common carotid artery from the brachiocephalic artery def: "The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery." [PMID:18694519] synonym: "Anomalous origin of the left common carotid artery from the brachiocephalic trunk" EXACT [] is_a: HP:0430021 ! Abnormal common carotid artery morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T12:29:45Z xsd:dateTime created_by: peter [Term] id: HP:0031636 name: Anomalous origin of the right common carotid artery from the aorta def: "The right common carotid artery normally originates from the brachiocephalic artery. This term refers to an origin of this artery directly from the aorta." [PMID:12601459] is_a: HP:0430021 ! Abnormal common carotid artery morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T12:31:37Z xsd:dateTime created_by: peter [Term] id: HP:0031637 name: Right coronary artery ostial atresia def: "Absence of the normal opening of the coronary ostium from which the right main coronary artery originates." [] is_a: HP:0031626 ! Coronary ostial atresia property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T12:45:57Z xsd:dateTime created_by: peter [Term] id: HP:0031638 name: Anomalous origin of the left anterior descending artery from the pulmonary artery def: "The left anterior descending artery (LAD) branches off from the pulmonary artery." [PMID:27358682] comment: Normally the left main coronary artery bifurcates into the left circumflex artery and the LAD. is_a: HP:0011637 ! Anomalous origin of coronary artery from the pulmonary artery property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T12:50:50Z xsd:dateTime created_by: peter [Term] id: HP:0031639 name: Absent left main coronary artery def: "The left main coronary artery (LMCA) is absent and the left anterior descending (LAD) and left circumflex (LCX) arteries arise from separate but adjacent ostia in the left sinus of Valsava." [] synonym: "Absent LMCA" EXACT HP:0045077 [] is_a: HP:0011636 ! Abnormal coronary artery origin property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T12:56:17Z xsd:dateTime created_by: peter [Term] id: HP:0031640 name: Abnormal radial artery morphology def: "Any structural anomaly of the radial artery." [] is_a: HP:0011004 ! Abnormal systemic arterial morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T13:30:31Z xsd:dateTime created_by: peter [Term] id: HP:0031643 name: Fusiform ascending tubular aorta aneurysm def: "An eccentric abnormal localized widening (dilatation) of the ascending tubular aorta that involves only a portion of the circumference of the vessel wall." [] is_a: HP:0004970 ! Ascending tubular aorta aneurysm property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T14:02:25Z xsd:dateTime created_by: peter [Term] id: HP:0031644 name: Fusiform abdominal aortic aneurysm def: "A concentric abnormal localized widening (dilatation) of the abdominal aorta that involves the full circumference of the vessel wall" [] is_a: HP:0005112 ! Abdominal aortic aneurysm property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T14:14:11Z xsd:dateTime created_by: peter [Term] id: HP:0031645 name: Saccular abdominal aortic aneurysm def: "An eccentric abnormal localized widening (dilatation) of the abdominal aorta that involves only a portion of the circumference of the vessel wall." [] is_a: HP:0005112 ! Abdominal aortic aneurysm property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T14:14:53Z xsd:dateTime created_by: peter [Term] id: HP:0031646 name: Fusiform aortic arch aneurysm def: "A concentric abnormal localized widening (dilatation) of the aortic arch that involves the full circumference of the vessel wall." [] is_a: HP:0005113 ! Aortic arch aneurysm property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T14:19:02Z xsd:dateTime created_by: peter [Term] id: HP:0031647 name: Saccular aortic arch aneurysm def: "An eccentric abnormal localized widening (dilatation) of the aortic arch that involves only a portion of the circumference of the vessel wall." [] is_a: HP:0005113 ! Aortic arch aneurysm property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T14:19:53Z xsd:dateTime created_by: peter [Term] id: HP:0031648 name: Penetrating aortic ulcer def: "A focal defect in the elastic lamina of the aortic wall that leads to localized medial disruption and potential rupture." [] comment: Pentrating aortic ulcers are typically caused by atherosclerotic lesions. is_a: HP:0001679 ! Abnormal aortic morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T14:55:54Z xsd:dateTime created_by: peter [Term] id: HP:0031649 name: Aortic rupture def: "Tearing of the aortic wall generally associated with profuse internal bleeding." [] is_a: HP:0001679 ! Abnormal aortic morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T15:01:47Z xsd:dateTime created_by: peter [Term] id: HP:0031650 name: Abnormal atrioventricular valve physiology def: "Any functional defect of the mitral or tricuspid valve." [] is_a: HP:0031653 ! Abnormal heart valve physiology property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T15:17:45Z xsd:dateTime created_by: peter [Term] id: HP:0031651 name: Abnormal tricuspid valve physiology def: "Any functional defect of the tricuspid valve." [] is_a: HP:0031650 ! Abnormal atrioventricular valve physiology property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T15:19:13Z xsd:dateTime created_by: peter [Term] id: HP:0031652 name: Abnormal aortic valve physiology is_a: HP:0031653 ! Abnormal heart valve physiology property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T15:20:51Z xsd:dateTime created_by: peter [Term] id: HP:0031653 name: Abnormal heart valve physiology def: "Any functional abnormality of a cardiac valve." [] is_a: HP:0011025 ! Abnormal cardiovascular system physiology property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T15:21:49Z xsd:dateTime created_by: peter [Term] id: HP:0031654 name: Abnormal pulmonary valve physiology def: "Any functional anomaly of the pumonary valve." [] is_a: HP:0031653 ! Abnormal heart valve physiology property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T15:24:28Z xsd:dateTime created_by: peter [Term] id: HP:0031655 name: Quadricuspid aortic valve def: "The presence of an aortic valve with four instead of the normal three cusps (flaps)." [PMID:27390747] is_a: HP:0031567 ! Abnormal aortic valve cusp morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T15:32:01Z xsd:dateTime created_by: peter [Term] id: HP:0031656 name: Systolic anterior motion of the mitral valve def: "Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole." [PMID:22847594] is_a: HP:0031481 ! Abnormal mitral valve physiology property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T15:49:49Z xsd:dateTime created_by: peter [Term] id: HP:0031657 name: Abnormal heart sound def: "Any abnormal noise generated by the beating heart." [] comment: The first two heart sounds, S1 and S2, define ventricular systole. S1 comprises the closure of the mitral and tricuspid valves. S2 is produced by aortic and pulmonic valve closure. is_a: HP:0011025 ! Abnormal cardiovascular system physiology property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T15:56:24Z xsd:dateTime created_by: peter [Term] id: HP:0031658 name: Third heart sound def: "The third heart sound (S3) is related to rapid filling in diastole. S3 can be a normal finding in children and adolescents but suggests heart failure in older patients." [] is_a: HP:0031657 ! Abnormal heart sound property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:01:27Z xsd:dateTime created_by: peter [Term] id: HP:0031659 name: Fourth heart sound is_a: HP:0031657 ! Abnormal heart sound property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:03:22Z xsd:dateTime created_by: peter [Term] id: HP:0031660 name: Loud first heart sound def: "Abnormally increased volume of the first heart sound." [] comment: S1 may be loud in early phases of rheumatic mitral stenosis. is_a: HP:0031657 ! Abnormal heart sound property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:05:06Z xsd:dateTime created_by: peter [Term] id: HP:0031661 name: Abnormal second heart sound def: "Any anomaly of the second heart sound (S2), which is produced by aortic (A2) and pulmonic (P2) valve closure. The A2-P2 interval normally increases with inspiration and narrows with expiration." [] is_a: HP:0031657 ! Abnormal heart sound property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:06:41Z xsd:dateTime created_by: peter [Term] id: HP:0031662 name: Fixed splitting of the second heart sound def: "Lack of variation in the splitting between the two components of the second heart sound with respiration. Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration." [] comment: Fixed splitting of S2 may occur in patients with secundum atrial septal defect. synonym: "Fixed splitting of S2" EXACT HP:0045077 [] is_a: HP:0031661 ! Abnormal second heart sound property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:08:14Z xsd:dateTime created_by: peter [Term] id: HP:0031663 name: Paradoxical splitting of the second heart sound def: "Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. With paradoxical splitting, there is a delay in the closure of the aortic valve, so that A2 can follow P2; the individual components can be appreciated at the end of expiration and the interval narrows with inspiration (which is the oposite of the normal pattern)." [] synonym: "Paradoxical splitting of S2" EXACT HP:0045077 [] synonym: "Reversed splitting of S2" EXACT HP:0045077 [] synonym: "Reversed splitting of the second heart sound" EXACT [] is_a: HP:0031661 ! Abnormal second heart sound property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:11:27Z xsd:dateTime created_by: peter [Term] id: HP:0031664 name: Systolic heart murmur def: "A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2." [] is_a: HP:0030148 ! Heart murmur property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:16:41Z xsd:dateTime created_by: peter [Term] id: HP:0031665 name: Midsystolic murmur def: "A systolic murmur that begins after S1 and ends before S2, typically with a crescendo-decrescendo pattern." [] comment: A common cause of midsystolic murmurs in adults is aortic stenosis. is_a: HP:0031664 ! Systolic heart murmur property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:17:45Z xsd:dateTime created_by: peter [Term] id: HP:0031666 name: Late systolic murmur def: "A murmur that occurs in the latter phase of systole." [] comment: A late systolic murmur heard best at the apex of the heart may indicate mitral valve prolapse. is_a: HP:0031664 ! Systolic heart murmur property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:19:04Z xsd:dateTime created_by: peter [Term] id: HP:0031667 name: Holosystolic murmur def: "A heart murmur that occurs during the entire systolic phase from S1 to S2." [] is_a: HP:0031664 ! Systolic heart murmur property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:20:33Z xsd:dateTime created_by: peter [Term] id: HP:0031668 name: Diastolic heart murmur def: "A heart murmur that occurs during diastole, i.e., in the time between S2 and the subsequent S1." [] comment: Diastolic murmurs always signify structural heart disease. is_a: HP:0030148 ! Heart murmur property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:21:15Z xsd:dateTime created_by: peter [Term] id: HP:0031669 name: Middiastolic murmur def: "A murmur that occurs in the middle of the diastolic phase." [] comment: A middiastolic murmur may indicate mitral stenosis. is_a: HP:0031668 ! Diastolic heart murmur property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:22:29Z xsd:dateTime created_by: peter [Term] id: HP:0031670 name: Continuous heart murmur def: "A murmur that occurs in both systole and diastole." [] comment: Continuous murmurs are related to pressure gradients that persist across systole and diastole. A classic example is the murmur related to patent ductus arteriosus. is_a: HP:0030148 ! Heart murmur property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:23:25Z xsd:dateTime created_by: peter [Term] id: HP:0031671 name: Typical atrial flutter def: "Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative." [PMID:28835836] is_a: HP:0004749 ! Atrial flutter property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:44:25Z xsd:dateTime created_by: peter [Term] id: HP:0031672 name: Reverse typical atrial flutter def: "A type of atrial flutter associated with rounded or bimodal positive deflections in inferior leads II, III and aVF, and a very characteristic bimodal negative wave in the shape of a W is seen in lead V1." [PMID:28835836] is_a: HP:0004749 ! Atrial flutter property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:47:28Z xsd:dateTime created_by: peter [Term] id: HP:0031673 name: Orthodromic atrioventricular reentrant tachycardia def: "A type of atrioventricular reentrant tachycardia (AVRT) where the are the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction." [PMID:29234357] synonym: "Orthodromic AVRT" EXACT HP:0045077 [] is_a: HP:0011717 ! Atrioventricular reentrant tachycardia property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:55:02Z xsd:dateTime created_by: peter [Term] id: HP:0031674 name: Antidromic atrioventricular reentrant tachycardia def: "A type of atrioventricular reentrant tachycardia (AVRT) where the are the accessory pathway is used for anterograde conduction and the atrioventricular node for retrograde conduction." [] synonym: "Antidromic AVRT" EXACT HP:0045077 [] is_a: HP:0011717 ! Atrioventricular reentrant tachycardia property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T16:57:22Z xsd:dateTime created_by: peter [Term] id: HP:0031675 name: Fascicular left ventricular tachycardia def: "A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG)." [PMID:29184614] comment: Fascicular left ventricular tachycardia occurs predominantly in young males (15-40 years old) without structural heart disease (idiopathic). is_a: HP:0004756 ! Ventricular tachycardia property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T17:01:47Z xsd:dateTime created_by: peter [Term] id: HP:0031676 name: Monomorphic ventricular tachycardia def: "A type of ventricular tachycardia that is characterized by uniform QRS complexes within each lead (i.e., each QRS is identical or nearly so)." [] comment: Monomorphic VT originates from a single ventricular focus. is_a: HP:0004756 ! Ventricular tachycardia property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T17:06:28Z xsd:dateTime created_by: peter [Term] id: HP:0031677 name: Polymorphic ventricular tachycardia def: "A type of ventricular tachycardia that is characterized by variable QRS complexes within each lead (i.e., QRS complexes may be different from beat to beat)." [] is_a: HP:0004756 ! Ventricular tachycardia property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T17:08:41Z xsd:dateTime created_by: peter [Term] id: HP:0031678 name: Atherosclerotic lesion def: "A lesion associated with atherosclerosis, a multifactorial and multipart progressive disease manifested by the focal development within the arterial wall of lesions, that ranges from teh development of a fatty streak, plaque progression, and plaque disruption. Atherosclerotic lesions demonstrate consistent morphological characteristics, which indicate that each type may stabilize temporarily or permanently and that progression to the next type may require an additional stimulus." [PMID:8172861] is_a: HP:0002621 ! Atherosclerosis property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T17:19:49Z xsd:dateTime created_by: peter [Term] id: HP:0031679 name: Type I atherosclerotic lesion def: "Type I lesions represent the very initial changes and are recognized as an increase in the number of intimal macrophages and the appearance of macrophages filled with lipid droplets (foam cells)." [] comment: Type I lesions consist of the first microscopically and chemically detectable lipid deposits in the intima and the cell reactions associated with such deposits.The initial histological changes in the human intima are minimal. Small, isolated groups of macrophages containing lipid droplets (macrophage foam cells) form. In coronary arteries these cells pref- erentially accumulate in regions of the intima that have an adaptive intimal thickening of the eccentric type. is_a: HP:0031678 ! Atherosclerotic lesion property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T17:29:15Z xsd:dateTime created_by: peter [Term] id: HP:0031680 name: Type II atherosclerotic lesion def: "Type II atherosclerotic lesions include the fatty streak lesion, the first grossly visible lesion, and are characterized by layers of macrophage foam cells and lipid droplets within intimal smooth muscle cells and minimal coarse-grained particles and heterogeneous droplets of extracellular lipid." [PMID:8172861] is_a: HP:0031678 ! Atherosclerotic lesion property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T17:31:10Z xsd:dateTime created_by: peter [Term] id: HP:0031681 name: Type III atherosclerotic lesion def: "Type III (intermediate) atherosclerotic lesions are the morphological and chemical bridge between type II and advanced lesions. Type III lesions appear in some adaptive intimal thickenings (progression-prone locations) in young adults and are characterized by pools of extracellular lipid in addition to all the components of type II lesions." [PMID:8172861] is_a: HP:0031678 ! Atherosclerotic lesion property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T17:33:15Z xsd:dateTime created_by: peter [Term] id: HP:0031682 name: Type V atherosclerotic lesion def: "Type V lesions are defined as lesions in which prominent new fibrous connective tissue has formed. When the new tissue is part of a lesion with a lipid core (type IV), this type of morphology may be referred to as fibroatheroma or type Va lesion. A type V lesion in which the lipid core and other parts of the lesion are calcified may be referred to as type Vb. A type V lesion in which a lipid core is absent and lipid in general is minimal may be referred to as type Vc. With these lesions, arteries are variously narrowed, generally more than with type IV. Importantly, as with type IV lesions, type V lesions may develop fissures, hematoma, and/or thrombus (type VI lesion), and for this reason too they are clinically relevant." [] is_a: HP:0031678 ! Atherosclerotic lesion property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T17:38:22Z xsd:dateTime created_by: peter [Term] id: HP:0031683 name: Type VI atherosclerotic lesion def: "Type VI atherosclerotic lesions generally have the underlying morphology of type IV or V lesions, surface disruptions, hematoma, and thrombosis may be (although less often) superimposed on any other type of lesion and even on intima without an apparent lesion. Complicating features may arise because of individual differences in risk factors and tissue reactions. These may include differences in composition of the blood, the relative quantities and distributions in the components of the underlying lesion or intima, as well as modifications of shear and tensile forces to which the lesion or intima is exposed. Clinical imaging of lesions may be expected to contribute greatly to the understanding of type VI lesions and the associated clinical syndromes." [PMID:7648691] comment: Morbidity and mortality from atherosclerosis is largely due to type IV and type V lesions in which disruptions of the lesion surface, hematoma or hemorrhage, and thrombotic deposits have developed. Type IV or V lesions with one or more of these additional features are classified as type VI and may also be referred to as complicated lesions. Type VI may be subdivided by the superimposed features. Thus, disruption of the surface may be labeled type VIa; hematoma or hemorrhage, type VIb; and thrombosis, type VIc. Type VIabc indicates the presence of all three features. is_a: HP:0031678 ! Atherosclerotic lesion property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T17:45:52Z xsd:dateTime created_by: peter [Term] id: HP:0031684 name: Renal artery atherosclerosis def: "An atherosclerotic lesion located in the renal artery." [] is_a: HP:0008776 ! Abnormal renal artery morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T18:25:00Z xsd:dateTime created_by: peter [Term] id: HP:0031685 name: Abnormal stool composition synonym: "Abnormal faeces composition" EXACT HP:0045076 [] synonym: "Abnormal feces composition" EXACT [] is_a: HP:0025033 ! Abnormality of digestive system morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T21:04:26Z xsd:dateTime created_by: peter [Term] id: HP:0031686 name: Increased stool alpha1-antitrypsin concentration def: "An abnormally elevated amount of alpha1-antitrypsin in the feces." [] comment: Alpha-1-antitrypsin is resistant to degradation by digestive enzymes and can therefore be used as a marker for the presence of blood proteins in the intestinal tract (e.g., protein-losing enteropathy). is_a: HP:0031685 ! Abnormal stool composition property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T21:09:20Z xsd:dateTime created_by: peter [Term] id: HP:0031687 name: Abnormally loud pulmonic component of the second heart sound comment: The pulmonic component is considered to be abnormally loud in a subject over age 20 if it is greater than the aortic component in the second left ICS or if it is audible at the cardiac apex. This may be due either to pulmonary artery hypertension or right ventricular dilatation, with part of the right ventricle assuming the position normally occupied by the left ventricle. A split second sound at the apex is, therefore, definitely abnormal. The loud P2 commonly heard at the apex in patients with atrial septal defect is probably due to a dilated right ventricle encroaching upon the cardiac apex [source-NCBI:NBK341]. synonym: "Accentuation of the pulmonic component of the second heart sound" EXACT [] is_a: HP:0031661 ! Abnormal second heart sound property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T21:17:09Z xsd:dateTime created_by: peter [Term] id: HP:0031688 name: Erythroid dysplasia def: "Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts. In peripheral blood." [PMID:26791933] is_a: HP:0012130 ! Abnormal erythroid lineage cell morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T22:04:44Z xsd:dateTime created_by: peter [Term] id: HP:0031689 name: Megakaryocyte dysplasia def: "The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei." [PMID:27127725] synonym: "Dysmegakaryopoiesis" EXACT [] is_a: HP:0012143 ! Abnormal megakaryocyte morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T22:09:51Z xsd:dateTime created_by: peter [Term] id: HP:0031690 name: Opportunistic infection def: "An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system." [HPO:probinson] comment: Opportunistic infection are infections that occur more often or are more severe in people with weakened immune systems than in those with normal immune system functioning. is_a: HP:0032101 ! Unusual infection property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T22:11:49Z xsd:dateTime created_by: peter [Term] id: HP:0031691 name: Severe viral infection def: "An unusually severe viral infection." [PMID:21960712] comment: The majority of viral infections acquired by nonimmunosuppressed individuals are asymptomatic or result in mild clinical manifestations. These individuals are able to mount effective immune responses that either clear the virus from the body or, for viruses that establish latency, maintain the virus in a dormant state. For individuals who are immunocompromised, because of a genetic immunodeficiency or immunosuppressive drug therapy, viral infections may result in life-threatening disease. Such patients present with infections that are severe, persistent, recurrent, or refractory to therapy and are usually caused by viruses of low virulence prevalent in the community. is_a: HP:0032169 ! Severe infection property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T22:28:59Z xsd:dateTime created_by: peter [Term] id: HP:0031692 name: Severe cytomegalovirus infection def: "An unusually severe infection by cytomegalovirus." [PMID:12588074] comment: A typical mononucleosis syndrome consists of an acute febrile illness with an increase of 50 percent or more in the number of lymphocytes or monocytes, with at least 10 percent of the lymphocytes being atypical. Immunocompromised patients may experience more severe complications such as CMV retinitis. is_a: HP:0031691 ! Severe viral infection property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T22:31:35Z xsd:dateTime created_by: peter [Term] id: HP:0031693 name: Severe Epstein Barr virus infection def: "An unusually severe Epstein Barr virus (EBV) infection." [] is_a: HP:0031691 ! Severe viral infection property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T22:35:16Z xsd:dateTime created_by: peter [Term] id: HP:0031694 name: Severe adenovirus infection def: "An unusually severe adenovirus infection." [PMID:24678403] comment: Adenoviruses can cause an array of clinical diseases, including conjunctivitis, gastroenteritis, hepatitis, myocarditis, and pneumonia. Most of these occur in children younger than the age of 5 years and are generally self-limiting illnesses. is_a: HP:0031691 ! Severe viral infection property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T22:36:24Z xsd:dateTime created_by: peter [Term] id: HP:0031695 name: Severe parainfluenza infection def: "An unusually severe infection by a parainfluenza virus." [] is_a: HP:0031691 ! Severe viral infection property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T22:38:29Z xsd:dateTime created_by: peter [Term] id: HP:0031696 name: Disseminated viral infection def: "A viral infection that fails to be contained by the immune sytem and spreads throughout the body." [PMID:28476145] is_a: HP:0031690 ! Opportunistic infection property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T22:39:04Z xsd:dateTime created_by: peter [Term] id: HP:0031697 name: Disseminated infection with live vaccine virus def: "A dissemination viral infection caused by a live attenuated vaccine virus." [PMID:25452596] is_a: HP:0031696 ! Disseminated viral infection property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T22:41:17Z xsd:dateTime created_by: peter [Term] id: HP:0031698 name: Disseminated Bacillus Calmette-Guerin infection def: "Failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis." [] is_a: HP:0032250 ! Acinetobacter infection property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T22:43:27Z xsd:dateTime created_by: peter [Term] id: HP:0031699 name: Disseminated cryptosporidium infection def: "Failure to contain infection by a protozoan of the genus Cryptosporidium, leading to spread to many parts of the body." [] is_a: HP:0020104 ! Unusual protozoan infection is_a: HP:0031690 ! Opportunistic infection property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T22:46:38Z xsd:dateTime created_by: peter [Term] id: HP:0031700 name: Invasive parasitic infection def: "A parasitic infection whereby the parasite invades (migrates through) tissues of the infected host." [] is_a: HP:0020108 ! Unusual parasitic infection is_a: HP:0031690 ! Opportunistic infection property_value: http://purl.org/dc/elements/1.1/date 2017-12-17T22:50:23Z xsd:dateTime created_by: peter [Term] id: HP:0031701 name: Anterior chamber inflammatory cells def: "The presence of inflammatory cells in the aqueous humor of the anterior chamber of the eye." [] comment: The terms for anterior chamber cells can be used to select the grade (total number of cells) and then Anterior chamber red blood cells or inflammatory cells can be chosen to specificy whether one or both cells are present. In some scenarios, both cell types may be observed, e.g., followiong trauma. is_a: HP:0000593 ! Abnormal anterior chamber morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-18T00:14:18Z xsd:dateTime created_by: peter [Term] id: HP:0031702 name: Anterior chamber red blood cells def: "The presence of erythrocyte in the aqueous humor of the anterior chamber of the eye." [] comment: The terms for anterior chamber cells can be used to select the grade (total number of cells) and then Anterior chamber red blood cells or inflammatory cells can be chosen to specificy whether one or both cells are present. In some scenarios, both cell types may be observed, e.g., followiong trauma. synonym: "Anterior chamber RBCs" EXACT HP:0045077 [] is_a: HP:0000593 ! Abnormal anterior chamber morphology property_value: http://purl.org/dc/elements/1.1/date 2017-12-18T00:15:42Z xsd:dateTime created_by: peter [Term] id: HP:0031703 name: Abnormal ear morphology def: "Any structural anomaly of the ear." [] xref: Fyler:4867 is_a: HP:0000598 ! Abnormality of the ear property_value: http://purl.org/dc/elements/1.1/date 2017-12-18T00:20:14Z xsd:dateTime created_by: peter [Term] id: HP:0031704 name: Abnormal ear physiology def: "Any functional anomaly of the ear." [] is_a: HP:0000598 ! Abnormality of the ear property_value: http://purl.org/dc/elements/1.1/date 2017-12-18T00:20:24Z xsd:dateTime created_by: peter [Term] id: HP:0031705 name: Compensatory head posture def: "A compensatory head posture occurs when the head is deviated out of the normal primary straight head position in order to compensate for an ocular problem." [] comment: An abnormal position of the head can be due to an ocular or a non-ocular problem. We reserve this term for abnormal head positions that are compensatory for an ocular problem. is_a: HP:0000496 ! Abnormality of eye movement property_value: http://purl.org/dc/elements/1.1/date 2017-12-18T00:24:15Z xsd:dateTime created_by: peter [Term] id: HP:0031706 name: Compensatory chin depression def: "A tendency to hold the chin depressed (lowered) to compensate for a limitation of eye movement." [] is_a: HP:0031705 ! Compensatory head posture property_value: http://purl.org/dc/elements/1.1/date 2017-12-18T00:26:27Z xsd:dateTime created_by: peter [Term] id: HP:0031707 name: Compensatory face turn to the right def: "A tendency to turn the face to the right to compensate for a limitation of eye movement." [] comment: With a sixth cranial nerve palsy there is a weakened lateral rectus muscule and the affected patient will often turn the head towards the affected eye. is_a: HP:0031705 ! Compensatory head posture property_value: http://purl.org/dc/elements/1.1/date 2017-12-18T00:27:59Z xsd:dateTime created_by: peter [Term] id: HP:0031708 name: Compensatory face turn to the left def: "A tendency to turn the face to the left to compensate for a limitation of eye movement." [] comment: With a sixth cranial nerve palsy there is a weakened lateral rectus muscule and the affected patient will often turn the head towards the affected eye. is_a: HP:0031705 ! Compensatory head posture property_value: http://purl.org/dc/elements/1.1/date 2017-12-18T00:30:18Z xsd:dateTime created_by: peter [Term] id: HP:0031709 name: Compensatory head tilt to the right shoulder def: "A tendency to tilt the head towards the right shoulder to compensate for a limitation of eye movement." [] comment: With fourth cranial nerve palsy leading to weakness of the superior oblique muscle, affected persons tilt the head away from the affected eye as both eyes are most straight in this position. is_a: HP:0031705 ! Compensatory head posture property_value: http://purl.org/dc/elements/1.1/date 2017-12-18T00:31:38Z xsd:dateTime created_by: peter [Term] id: HP:0031710 name: Compensatory head tilt to the left shoulder def: "A tendency to tilt the head towards the left shoulder to compensate for a limitation of eye movement." [] comment: With fourth cranial nerve palsy leading to weakness of the superior oblique muscle, affected persons tilt the head away from the affected eye as both eyes are most straight in this position. is_a: HP:0031705 ! Compensatory head posture property_value: http://purl.org/dc/elements/1.1/date 2017-12-18T00:33:44Z xsd:dateTime created_by: peter [Term] id: HP:0031711 name: Asymmetric abdominal aortic aneurysm def: "An abdominal aortic aneurysm that is not symmetric around its axis (not axisymmetric)." [PMID:12751282] comment: Abdominal aortic aneurysms (AAAs) in an advanced stage of development are truly asymmetric, due to the presence of tissue surrounding the abdominal aorta and to the vertebral column located posterior to this artery segment. This makes a large AAA less fusiform and to grow apart from the centerline of the lumen, accounting for a major anterior dilation and a more flat posterior surface. is_a: HP:0005112 ! Abdominal aortic aneurysm property_value: http://purl.org/dc/elements/1.1/date 2017-12-22T11:19:37Z xsd:dateTime created_by: peter [Term] id: HP:0031713 name: Constant exotropia def: "A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times." [ORCID:0000-0003-0986-4123] is_a: HP:0000577 ! Exotropia property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T13:23:11Z xsd:dateTime created_by: peter [Term] id: HP:0031714 name: Distance exotropia def: "A type of divergent strabismus (exotropia) in which an eye tends to turn outwards (i.e., the eye squints) mainly when looking at distant objects. The eyes tend to remain straight when they look at near objects. Distance exotropia may be constant or intermittant." [ORCID:0000-0003-0986-4123] is_a: HP:0000577 ! Exotropia property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T13:25:53Z xsd:dateTime created_by: peter [Term] id: HP:0031715 name: Near exotropia def: "An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant)." [ORCID:0000-0003-0986-4123] is_a: HP:0000577 ! Exotropia property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T13:30:16Z xsd:dateTime created_by: peter [Term] id: HP:0031716 name: Cyclic exotropia def: "A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle." [ORCID:0000-0003-0986-4123] is_a: HP:0000577 ! Exotropia property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T13:31:56Z xsd:dateTime created_by: peter [Term] id: HP:0031717 name: Alternating exotropia def: "A type of exotropia in which either eye may be used for fixation." [ORCID:0000-0003-0986-4123] synonym: "Alternating strabismus" EXACT [] is_a: HP:0000577 ! Exotropia property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T13:33:37Z xsd:dateTime created_by: peter [Term] id: HP:0031718 name: Consecutive exotropia def: "Exotropia in an individual who has previously had esotropia or esophoria." [ORCID:0000-0003-0986-4123] is_a: HP:0000577 ! Exotropia property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T13:36:10Z xsd:dateTime created_by: peter [Term] id: HP:0031719 name: True distance exotropia def: "Exotropia (intermittent or constant) on distance fixation with binocular single vision on near fixation under all testing conditions. The accommodative convergence/accommodation (AC:A) ratio is within normal limits." [ORCID:0000-0003-0986-4123] is_a: HP:0031714 ! Distance exotropia property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T13:40:43Z xsd:dateTime created_by: peter [Term] id: HP:0031720 name: Simulated distance exotropia def: "Exotropia (intermittent or constant) worse for distance fixation in which the near angle of deviation increases (or near exophoria becomes exotropia) with: (1) prolonged disruption of fusion and/or (2) elimination of accommodation." [] is_a: HP:0031714 ! Distance exotropia property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T13:40:55Z xsd:dateTime created_by: peter [Term] id: HP:0031721 name: Sensory exotropia synonym: "A type of divergent strabismus (exotropia) that develops in a poorly seeing eye." EXACT [ORCID:0000-0003-0986-4123] synonym: "Secondary exotropia" EXACT [] is_a: HP:0000577 ! Exotropia property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T14:03:40Z xsd:dateTime created_by: peter [Term] id: HP:0031722 name: Near esotropia def: "An intermittent esotropia where there is binocular single vision on distance fixation and esotropia at near even when the accommodation is relieved." [ORCID:0000-0003-0986-4123] synonym: "Non-accomodative convergence excess esotropia" EXACT [] is_a: HP:0031760 ! Non-accomodative esotropia property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T14:06:56Z xsd:dateTime created_by: peter [Term] id: HP:0031723 name: Secondary esotropia def: "Convergent squint which follows loss or impairment of vision." [ORCID:0000-0003-0986-4123] synonym: "Sensory esotropia" EXACT [] is_a: HP:0000565 ! Esotropia property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T14:08:58Z xsd:dateTime created_by: peter [Term] id: HP:0031724 name: Microtropia def: "A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs." [ORCID:0000-0003-0986-4123] is_a: HP:0032012 ! Heterotropia property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T14:16:59Z xsd:dateTime created_by: peter [Term] id: HP:0031725 name: Hypophoria def: "A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards." [ORCID:0000-0003-0986-4123] is_a: HP:0025588 ! Hypodeviation is_a: HP:0032011 ! Heterophoria property_value: http://purl.org/dc/elements/1.1/date 2018-01-13T14:23:16Z xsd:dateTime created_by: peter [Term] id: HP:0031726 name: Incyclotropia def: "A type of cyclotropia (torsion of one or both eye about the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other." [ORCID:0000-0003-0986-4123] is_a: HP:0031776 ! Cyclotropia property_value: http://purl.org/dc/elements/1.1/date 2018-01-14T15:35:57Z xsd:dateTime created_by: peter [Term] id: HP:0031727 name: Excyclotropia def: "A type of cyclotropia (torsion of one or both eye about the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other." [UManchster:psergouniotis] is_a: HP:0031776 ! Cyclotropia property_value: http://purl.org/dc/elements/1.1/date 2018-01-14T15:39:16Z xsd:dateTime created_by: peter [Term] id: HP:0031728 name: Mild hypermetropia def: "A form of hypermetropia with not more that +2.00 diopters." [ORCID:0000-0003-0986-4123] synonym: "Mild hyperopia" EXACT [] is_a: HP:0000540 ! Hypermetropia property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:18:26Z xsd:dateTime created_by: peter [Term] id: HP:0031729 name: Moderate hypermetropia def: "A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters." [ORCID:0000-0003-0986-4123] synonym: "Moderate hyperopia" EXACT [] is_a: HP:0000540 ! Hypermetropia property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:20:25Z xsd:dateTime created_by: peter [Term] id: HP:0031730 name: Axial myopia def: "A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye." [ORCID:0000-0003-0986-4123, PMID:24113300] is_a: HP:0000545 ! Myopia property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:22:58Z xsd:dateTime created_by: peter [Term] id: HP:0031731 name: Increased tear production def: "Increased lacrimation owing to overproduction of tears." [ORCID:0000-0003-0986-4123] is_a: HP:0009926 ! Epiphora property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:27:49Z xsd:dateTime created_by: peter [Term] id: HP:0031732 name: Increased basal tear production def: "A form of watery eye associated with overproduction of tears due to an increased parasympathetic drive to the secretory component of the lacrimal system (lacrimal gland); this could be due to pro-secretory drug use (e.g. pilocarpine) or autonomic disturbance." [ORCID:0000-0003-0986-4123] is_a: HP:0031731 ! Increased tear production property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:29:32Z xsd:dateTime created_by: peter [Term] id: HP:0031733 name: Reflex tearing def: "A form of watery eye associated with overproduction of tears due to reflex tearing in response to a local irritant (e.g. trichiasis or foreign body), chronic ocular surface disease (e.g. blepharitis) or systemic disease (e.g. thyroid eye disease)." [ORCID:0000-0003-0986-4123] is_a: HP:0031731 ! Increased tear production property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:32:30Z xsd:dateTime created_by: peter [Term] id: HP:0031734 name: Lacrimal pump failure def: "A form of watery eye associated with abnormal lid tone and/or lid position. The former is due to lid laxity (common involutional change in the elderly) or a weak orbicularis muscle (e.g. due to VII cranial nerve palsy). The latter is typically associated with ectropion causing punctal eversion." [ORCID:0000-0003-0986-4123] is_a: HP:0009926 ! Epiphora property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:36:29Z xsd:dateTime created_by: peter [Term] id: HP:0031736 name: Involutional entropion def: "An abnormal inversion of the eyelid towards the globe resulting from inferior retractor muscle dysfunction with tissue laxity and, possibly, overriding of the preseptal orbicularis muscle over the pretarsal orbicularis muscle." [ORCID:0000-0003-0986-4123] is_a: HP:0000621 ! Entropion property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:40:49Z xsd:dateTime created_by: peter [Term] id: HP:0031737 name: Cicatricial entropion def: "Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid." [ORCID:0000-0003-0986-4123] is_a: HP:0000621 ! Entropion property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:41:39Z xsd:dateTime created_by: peter [Term] id: HP:0031738 name: Mechanical entropion def: "A type of entropion (abnormal inversion of the eyelid towards the globe) that is related to a mass effect of a lesion (e.g., a tumor) that pulls the eyelid margin away from the globe." [ORCID:0000-0003-0986-4123] is_a: HP:0000621 ! Entropion property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:42:52Z xsd:dateTime created_by: peter [Term] id: HP:0031739 name: Abnormal oblique muscle physiology def: "A functional anomaly of the inferior or superior oblique muscle." [ORCID:0000-0003-0986-4123] comment: The superior oblique muscle is responsible for incyclotorsion (inward turning) or the eye. The inferior oblique muscle is responsible for excyclotorsion (outward turning) or the eye. is_a: HP:0025590 ! Abnormal extraocular muscle physiology property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:53:14Z xsd:dateTime created_by: peter [Term] id: HP:0031740 name: Abnormal horizontal rectus muscle physiology def: "A functional anomaly of the medial rectus muscle or lateral rectus muscle." [] is_a: HP:0031755 ! Abnormal rectus muscle physiology property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T13:56:55Z xsd:dateTime created_by: peter [Term] id: HP:0031741 name: Inferior oblique muscle underaction def: "Reduced ocular movement by the inferior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy." [ORCID:0000-0003-0986-4123] is_a: HP:0025598 ! Inferior oblique muscle weakness property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:05:23Z xsd:dateTime created_by: peter [Term] id: HP:0031742 name: Inferior rectus muscle underaction def: "Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy." [ORCID:0000-0003-0986-4123] is_a: HP:0025601 ! Inferior rectus muscle weakness property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:07:33Z xsd:dateTime created_by: peter [Term] id: HP:0031743 name: Inferior rectus muscle overaction def: "Excessive action of the inferior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist." [ORCID:0000-0003-0986-4123] is_a: HP:0025600 ! Abnormal inferior rectus muscle physiology property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:09:20Z xsd:dateTime created_by: peter [Term] id: HP:0031744 name: Superior rectus muscle weakness def: "Decreased strength of the superior rectus muscle." [] is_a: HP:0025603 ! Abnormal superior rectus muscle physiology property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:10:55Z xsd:dateTime created_by: peter [Term] id: HP:0031745 name: Superior rectus muscle overaction def: "Excessive action of the superior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist." [ORCID:0000-0003-0986-4123] is_a: HP:0025603 ! Abnormal superior rectus muscle physiology property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:11:53Z xsd:dateTime created_by: peter [Term] id: HP:0031746 name: Superior rectus muscle restriction def: "Mechanical limitation of the range of movement of the superior rectus muscle." [ORCID:0000-0003-0986-4123] comment: In contrast to deficits produced by primary muscle weakness, restriction means that the affected extraocular muscle cannot move passively any more than actively. is_a: HP:0031744 ! Superior rectus muscle weakness property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:13:01Z xsd:dateTime created_by: peter [Term] id: HP:0031747 name: Superior rectus muscle underaction def: "Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy." [ORCID:0000-0003-0986-4123] is_a: HP:0031744 ! Superior rectus muscle weakness property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:16:34Z xsd:dateTime created_by: peter [Term] id: HP:0031748 name: Abnormal vertical rectus muscle physiology def: "A functional anomaly of the superior or inferior rectus muscle." [ORCID:0000-0003-0986-4123] is_a: HP:0031755 ! Abnormal rectus muscle physiology property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:18:23Z xsd:dateTime created_by: peter [Term] id: HP:0031749 name: Abnormal lateral rectus muscle physiology def: "A functional anomaly of the lateral rectus muscle." [] comment: The lateral rectus muscle is responsible for abduction of the globe (moving the eyeball away from the nose). is_a: HP:0031740 ! Abnormal horizontal rectus muscle physiology property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:19:56Z xsd:dateTime created_by: peter [Term] id: HP:0031750 name: Lateral rectus muscle weakness def: "Decreased strength (ability to move) of the lateral rectus muscle." [ORCID:0000-0003-0986-4123] is_a: HP:0031749 ! Abnormal lateral rectus muscle physiology property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:21:25Z xsd:dateTime created_by: peter [Term] id: HP:0031751 name: Lateral rectus muscle underaction def: "Reduced movement of the lateral rectus muscle which improves on testing ductions, typically associated with neurogenic palsy." [ORCID:0000-0003-0986-4123] is_a: HP:0031750 ! Lateral rectus muscle weakness property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:23:28Z xsd:dateTime created_by: peter [Term] id: HP:0031752 name: Lateral rectus muscle overaction def: "Excessive action of the lateral rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist." [] is_a: HP:0031749 ! Abnormal lateral rectus muscle physiology property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:24:41Z xsd:dateTime created_by: peter [Term] id: HP:0031753 name: Medial rectus muscle weakness def: "Decreased strength of the medial rectus muscle." [ORCID:0000-0003-0986-4123] is_a: HP:0025606 ! Abnormal medial rectus muscle physiology property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:25:38Z xsd:dateTime created_by: peter [Term] id: HP:0031754 name: Medial rectus muscle overaction def: "Excessive action of the medial rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist." [] is_a: HP:0025606 ! Abnormal medial rectus muscle physiology property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:26:34Z xsd:dateTime created_by: peter [Term] id: HP:0031755 name: Abnormal rectus muscle physiology def: "A functional anomaly of a vertical or horizontal rectus muscle." [ORCID:0000-0003-0986-4123] is_a: HP:0025590 ! Abnormal extraocular muscle physiology property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:27:36Z xsd:dateTime created_by: peter [Term] id: HP:0031756 name: Medial rectus muscle underaction def: "Reduced movement of the medial rectus muscle which improves on testing ductions, typically associated with neurogenic palsy." [ORCID:0000-0003-0986-4123] is_a: HP:0031753 ! Medial rectus muscle weakness property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:29:07Z xsd:dateTime created_by: peter [Term] id: HP:0031757 name: Medial rectus muscle restriction def: "Mechanical limitation of the range of movement of the medial rectus muscle." [ORCID:0000-0003-0986-4123] comment: In contrast to deficits produced by primary muscle weakness, restriction means that the affected extraocular muscle cannot move passively any more than actively. is_a: HP:0031753 ! Medial rectus muscle weakness property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:30:22Z xsd:dateTime created_by: peter [Term] id: HP:0031758 name: Lateral rectus muscle restriction def: "Mechanical limitation of the range of movement of the lateral rectus muscle." [] is_a: HP:0031750 ! Lateral rectus muscle weakness property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:33:00Z xsd:dateTime created_by: peter [Term] id: HP:0031759 name: Basic constant esotropia def: "A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times)." [ORCID:0000-0003-0986-4123] synonym: "Basic (constant) esotropia" EXACT [] is_a: HP:0031760 ! Non-accomodative esotropia property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:43:58Z xsd:dateTime created_by: peter [Term] id: HP:0031760 name: Non-accomodative esotropia def: "A form of esotropia in which the angle of deviation is not affected by accommodative effort." [ORCID:0000-0003-0986-4123] is_a: HP:0000565 ! Esotropia property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:46:28Z xsd:dateTime created_by: peter [Term] id: HP:0031761 name: Infantile constant esotropia def: "Constant esotropia occurring before 6 months of age. It is typically associated with a large angle of deviation, alternating fixation (therefore low risk of amblyopia) and poor potential for binocular single vision. Other features that might be present in individuals with infantile (constant) esotropia include latent nystagmus or manifest latent nystagmus, dissociated vertical divergence, cyclotropia, abnormal head posture, limited abduction." [UManchester:psergouniotis] synonym: "Infantile (constant) esotropia" EXACT [] is_a: HP:0031760 ! Non-accomodative esotropia property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:47:01Z xsd:dateTime created_by: peter [Term] id: HP:0031762 name: Distance esotropia def: "An intermittent esotropia where binocular single vision is present on near fixation and an esotropia on distance fixation. Often associated with myopia and aging." [UManchester:psergouniotis] synonym: "Divergence insufficiency" EXACT [] is_a: HP:0031760 ! Non-accomodative esotropia property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:47:19Z xsd:dateTime created_by: peter [Term] id: HP:0031763 name: Cyclic esotropia def: "Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle." [ORCID:0000-0003-0986-4123] is_a: HP:0031760 ! Non-accomodative esotropia property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:47:29Z xsd:dateTime created_by: peter [Term] id: HP:0031764 name: Fully accomodative esotropia def: "Esotropia in which normal binocular single vision is present for all distances when the hypermetropic refractive error is corrected. Esotropia is present for near and distance on accommodation without correction." [ORCID:0000-0003-0986-4123] is_a: HP:0020046 ! Accommodative esotropia property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:47:50Z xsd:dateTime created_by: peter [Term] id: HP:0031765 name: Partially accomodative esotropia def: "A form of constant esotropia in which the angle of deviation is partially affected by accommodative effort. Typically there is esotropia at near and distance with hypermetropic correction and the angle of deviation increases without glasses." [ORCID:0000-0003-0986-4123] synonym: "Constant esotropia with an accommodative component" EXACT [] synonym: "Constant esotropia with an accommodative element" EXACT [] is_a: HP:0020046 ! Accommodative esotropia property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:48:00Z xsd:dateTime created_by: peter [Term] id: HP:0031766 name: Convergence excess esotropia def: "An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence/accommodation (AC/A) ratio." [ORCID:0000-0003-0986-4123] is_a: HP:0020046 ! Accommodative esotropia property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:48:11Z xsd:dateTime created_by: peter [Term] id: HP:0031767 name: Consecutive esotropia def: "Esotropia in a patient who has previously had exotropia or exophoria; may be constant or intermittent. and usually follows surgical overcorrection." [ORCID:0000-0003-0986-4123] is_a: HP:0000565 ! Esotropia property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:48:32Z xsd:dateTime created_by: peter [Term] id: HP:0031768 name: Parafoveal fixation def: "Fixation of an object in the area adjacent to the fovea." [ORCID:0000-0003-0986-4123] is_a: HP:0025549 ! Eccentric visual fixation property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:54:21Z xsd:dateTime created_by: peter [Term] id: HP:0031769 name: Peripheral fixation def: "Fixation of an object in a peripheral area of the retina." [ORCID:0000-0003-0986-4123] is_a: HP:0025549 ! Eccentric visual fixation property_value: http://purl.org/dc/elements/1.1/date 2018-01-21T14:55:27Z xsd:dateTime created_by: peter [Term] id: HP:0031770 name: Epicanthus palpebralis def: "A type of epicanthus in which a medial vertical fold is present between upper and lower lids." [ORCID:0000-0003-0986-4123] is_a: HP:0000286 ! Epicanthus property_value: http://purl.org/dc/elements/1.1/date 2018-01-25T11:23:16Z xsd:dateTime created_by: peter [Term] id: HP:0031771 name: Epicanthus tarsalis def: "A type of epicanthus in which a primarily upper lid fold is present." [ORCID:0000-0003-0986-4123] comment: Epicanthus tarsalis is a normal anatomic variant in the Asian population. is_a: HP:0000286 ! Epicanthus property_value: http://purl.org/dc/elements/1.1/date 2018-01-25T11:24:33Z xsd:dateTime created_by: peter [Term] id: HP:0031772 name: Abnormal posterior circulating artery morphology def: "Any structural anomaly of the posterior circulating artery (PCOM)." [] comment: The posterior circulating artery (PCOM) forms the posterior portion of the circle of Willis, connecting the interior carotid artery (proximal to its bifurcation into the anterior cerebral artery and the middle cerebral artery) with the posterior cerebral artery. is_a: HP:0012518 ! Abnormal circle of Willis morphology property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T11:25:13Z xsd:dateTime created_by: peter [Term] id: HP:0031773 name: Posterior communicating artery aneurysm def: "A widening (ballooning) localized in the wall of the posterior communicating artery." [] comment: Posterior communicating artery aneurysm can leads to an acute palsy of the third cranial nerve with ipsilateral pupil dilation. Posterior communicating aneurysms can be classified into aneurysms that project laterally and below the tentorial incisura and cause oculomotor nerve compression, and aneurysms that project laterally above the tentorium that can manifest as temporal lobe hematoma if they rupture. is_a: HP:0031772 ! Abnormal posterior circulating artery morphology property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T11:27:22Z xsd:dateTime created_by: peter [Term] id: HP:0031774 name: Posterior communicating artery infundibulum def: "A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery." [PMID:9848859] comment: PCOM infundibula are often considered as normal anatomical variants devoid of pathogenic significance, but have been noted to progress to aneurysms in some cases. is_a: HP:0031772 ! Abnormal posterior circulating artery morphology property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T11:28:34Z xsd:dateTime created_by: peter [Term] id: HP:0031775 name: Neurogenic strabismus def: "An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them." [ORCID:0000-0003-0986-4123] synonym: "Paralytic strabismus" EXACT [] is_a: HP:0000486 ! Strabismus property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T11:35:03Z xsd:dateTime created_by: peter [Term] id: HP:0031776 name: Cyclotropia def: "A form of manifest strabismus (heterotropia) in which the one eye is wheel rotated so that the upper end of its vertical axis is nasal (incyclotropia) or temporal (excyclotropia)." [ORCID:0000-0003-0986-4123] is_a: HP:0025589 ! Cyclodeviation is_a: HP:0032012 ! Heterotropia property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T11:38:31Z xsd:dateTime created_by: peter [Term] id: HP:0031777 name: Cyclophoria def: "A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation." [ORCID:0000-0003-0986-4123] is_a: HP:0025589 ! Cyclodeviation is_a: HP:0032011 ! Heterophoria property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T11:40:02Z xsd:dateTime created_by: peter [Term] id: HP:0031778 name: Incyclophoria def: "A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other." [ORCID:0000-0003-0986-4123] is_a: HP:0031777 ! Cyclophoria property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T11:40:45Z xsd:dateTime created_by: peter [Term] id: HP:0031779 name: Excyclophoria def: "A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated outward (laterally) to each other." [] is_a: HP:0031777 ! Cyclophoria property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T11:47:57Z xsd:dateTime created_by: peter [Term] id: HP:0031780 name: Eosinophilic ascites def: "A type of ascites in which there are large numbers of eosinophils in the ascitis fluid." [PMID:27721930] is_a: HP:0001541 ! Ascites is_a: HP:0032064 ! Gastrointestinal eosinophilia property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T12:22:52Z xsd:dateTime created_by: peter [Term] id: HP:0031781 name: Microtropia with identity def: "A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC." [ORCID:0000-0003-0986-4123, PMID:9602615] is_a: HP:0031724 ! Microtropia property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T11:42:09Z xsd:dateTime created_by: peter [Term] id: HP:0031782 name: Microtropia without identity def: "A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test." [ORCID:0000-0003-0986-4123, PMID:9602615] is_a: HP:0031724 ! Microtropia property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T11:44:11Z xsd:dateTime created_by: peter [Term] id: HP:0031783 name: Absent coronary sinus def: "A developmental defect in which the coronary sinus fails to form." [HPO:nvasilevsky, PMID:24551710] xref: Fyler:2841 is_a: HP:0011642 ! Abnormal coronary sinus morphology property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T12:02:56Z xsd:dateTime created_by: peter [Term] id: HP:0031784 name: Abnormal ascending aorta morphology def: "Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise." [MP:0009867] xref: Fyler:1431 is_a: HP:0001679 ! Abnormal aortic morphology property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T12:14:30Z xsd:dateTime created_by: peter [Term] id: HP:0031785 name: Abnormal eyelid movement def: "An abnormality in voluntary or involuntary eyelid movements or their control." [] is_a: HP:0031879 ! Abnormal eyelid physiology property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T12:51:02Z xsd:dateTime created_by: peter [Term] id: HP:0031786 name: Cogan lid twitch def: "Transient eyelid retraction during refixation from down to straight ahead." [ORCID:0000-0003-0986-4123] synonym: "Cogan eyelid twitch" EXACT [] synonym: "Eyelid twitch" EXACT [] synonym: "Lid twitch" EXACT [] is_a: HP:0031785 ! Abnormal eyelid movement property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T12:52:25Z xsd:dateTime created_by: peter [Term] id: HP:0031787 name: Oblique astigmatism def: "Astigmatism in which the refractive power of the vertical meridian is the greatest." [ORCID:0000-0003-0986-4123] is_a: HP:0000483 ! Astigmatism property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T13:31:31Z xsd:dateTime created_by: peter [Term] id: HP:0031788 name: With the rule astigmatism def: "Refractive error in which the vertical meridian is relatively hypermetropic and the horizontal meridian is relatively myopic (or ocular astigmatism in which the refractive power of the horizontal meridian is the greatest)." [ORCID:0000-0003-0986-4123] is_a: HP:0000483 ! Astigmatism property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T13:33:42Z xsd:dateTime created_by: peter [Term] id: HP:0031789 name: Against the rule astigmatism def: "Astigmatism with more plus power on the horizontal meridian." [] is_a: HP:0000483 ! Astigmatism property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T13:36:27Z xsd:dateTime created_by: peter [Term] id: HP:0031790 name: Mixed astigmatism def: "A type of astigmatism in which an unequal curvature of the cornea and some cases additionally of the lens causes one meridian of the eye to be hyperopic (farsighted) and a second meridian that is perpendicular to the first to be myopic (nearsighted)." [ORCID:0000-0003-0986-4123] is_a: HP:0000483 ! Astigmatism property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T13:37:32Z xsd:dateTime created_by: peter [Term] id: HP:0031791 name: Lenticular astigmatism def: "A type of astigmatism related to an irregular shape of the lens." [] is_a: HP:0000483 ! Astigmatism property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T13:40:22Z xsd:dateTime created_by: peter [Term] id: HP:0031792 name: Irregular astigmatism def: "A type of astigmatism in which the principle meridians are not 90 degrees apart and which is associated with loss of vision." [] is_a: HP:0000483 ! Astigmatism property_value: http://purl.org/dc/elements/1.1/date 2018-01-28T13:51:36Z xsd:dateTime created_by: peter [Term] id: HP:0031793 name: Increased serum leptin def: "An increased concentration of leptin in the blood." [RGD:sjwang] synonym: "Elevated circulating leptin level" EXACT [] is_a: HP:0004361 ! Abnormality of circulating leptin level property_value: http://purl.org/dc/elements/1.1/date 2018-02-25T14:05:58Z xsd:dateTime created_by: peter [Term] id: HP:0031794 name: Decreased circulating glycerol level def: "A decrease below the normal concentration of glycerol in the blood." [] is_a: HP:0031795 ! Abnormal circulating glycerol level property_value: http://purl.org/dc/elements/1.1/date 2018-02-25T14:13:06Z xsd:dateTime created_by: peter [Term] id: HP:0031795 name: Abnormal circulating glycerol level def: "Any deviation from the normal concentration of glycerol in the blood." [] is_a: HP:0011013 ! Abnormal circulating carbohydrate concentration property_value: http://purl.org/dc/elements/1.1/date 2018-02-25T14:28:46Z xsd:dateTime created_by: peter [Term] id: HP:0031796 name: Recurrent def: "Applies to a sign, symptom or manifestation that occurs multiple times separated by intervals in which the sign, symptom, or manifestation is not present." [] synonym: "Intermittent" EXACT [] is_a: HP:0011008 ! Temporal pattern property_value: http://purl.org/dc/elements/1.1/date 2018-02-25T14:40:47Z xsd:dateTime created_by: peter [Term] id: HP:0031797 name: Clinical course def: "The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual." [] synonym: "Natural history of disease" RELATED [] is_a: HP:0000001 ! All property_value: http://purl.org/dc/elements/1.1/date 2018-02-25T14:55:46Z xsd:dateTime created_by: peter [Term] id: HP:0031798 name: Elevated apolipoprotein B level def: "Increased circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100." [ORCID:0000-0001-5356-4174] synonym: "Elevated ApoB level" EXACT [] is_a: HP:0025201 ! Abnormal apolipoprotein level property_value: http://purl.org/dc/elements/1.1/date 2018-02-25T15:02:46Z xsd:dateTime created_by: peter [Term] id: HP:0031799 name: Decreased apolipoprotein AI level def: "Reduced criculating level of apolipoprotein AI, which is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease." [ORCID:0000-0001-5356-4174] synonym: "Decreased apo-AI level" EXACT [] synonym: "Decreased apoA-I level" EXACT [] is_a: HP:0025201 ! Abnormal apolipoprotein level property_value: http://purl.org/dc/elements/1.1/date 2018-02-25T15:04:10Z xsd:dateTime created_by: peter [Term] id: HP:0031800 name: Elevated apolipoprotein A-II level def: "An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism." [ORCID:0000-0001-5356-4174] synonym: "Elevated Apo-AII level" EXACT [] synonym: "Elevated apoA-II level" EXACT [] synonym: "Elevated APOAII level" EXACT [] is_a: HP:0025201 ! Abnormal apolipoprotein level property_value: http://purl.org/dc/elements/1.1/date 2018-02-25T15:06:30Z xsd:dateTime created_by: peter [Term] id: HP:0031801 name: Vocal cord dysfunction def: "Any functional anomaly of the vocal cord." [] is_a: HP:0001608 ! Abnormality of the voice property_value: http://purl.org/dc/elements/1.1/date 2018-03-04T12:07:39Z xsd:dateTime created_by: peter [Term] id: HP:0031803 name: Fundus hemorrhage def: "Bleeding within the fundus of the eye." [] is_a: HP:0001098 ! Abnormal fundus morphology property_value: http://purl.org/dc/elements/1.1/date 2018-03-07T15:30:14Z xsd:dateTime created_by: peter [Term] id: HP:0031804 name: Premacular hemorrhage is_a: HP:0025240 ! Preretinal hemorrhage property_value: http://purl.org/dc/elements/1.1/date 2018-03-07T15:32:12Z xsd:dateTime created_by: peter [Term] id: HP:0031805 name: Intraretinal hemorrhage def: "A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina." [UManchester:psergouniotis] comment: Although the fundoscopic appearence of an intraretinal hemorrhage can exibit significant variability it can typically be distinguished from a subretinal hemorrhage (occuring between the neurosensory retina and the RPE) or a sub-ILM hemorrhage (occuring between the internal limiting membrane and the neurosensory retina). is_a: HP:0000573 ! Retinal hemorrhage property_value: http://purl.org/dc/elements/1.1/date 2018-03-07T15:35:11Z xsd:dateTime created_by: peter [Term] id: HP:0031806 name: Abnormal basophil count def: "Any deviation from the normal number of basophils per volume in the blood circulation." [] is_a: HP:0001912 ! Abnormal basophil morphology is_a: HP:0032309 ! Abnormal granulocyte count property_value: http://purl.org/dc/elements/1.1/date 2018-04-04T01:11:52Z xsd:dateTime created_by: peter [Term] id: HP:0031807 name: Increased basophil count def: "An abnormally increased count of basophils per volume in the blood circulation." [] synonym: "Basophilia" EXACT [] is_a: HP:0031806 ! Abnormal basophil count property_value: http://purl.org/dc/elements/1.1/date 2018-04-04T01:15:24Z xsd:dateTime created_by: peter [Term] id: HP:0031808 name: Decreased basophil count def: "An abnormally reduced count of basophils per volume in the blood circulation." [] is_a: HP:0031806 ! Abnormal basophil count property_value: http://purl.org/dc/elements/1.1/date 2018-04-04T01:16:02Z xsd:dateTime created_by: peter [Term] id: HP:0031809 name: Archibald's sign def: "Shortening of the fourth and fifth metacarpals when the fist is clenched." [Gene42:pbuczkowicz, PMID:22075011, PMID:22629539] comment: In 1959, Archibald, Finlay, and De Vito were the first to describe a sign that depended on the relative lengths of the lateral three metacarpals (the metacarpal finding). When a line is drawn tangentially to the circumference of the heads (distal ends) of the fourth and fifth metacarpals, the extension of this line normally passes distally to the head of the third metacarpal and does not intersect the third metacarpal (negative metacarpal finding). In some hands such a line is tangential also to the circumference of the head of the third metacarpal (borderline metacarpal finding). In others the line runs through the distal end of the third metacarpal (positive metacarpal finding). synonym: "Archibald's metacarpal sign" EXACT [] synonym: "Knuckle dimple" EXACT layperson [] is_a: HP:0005916 ! Abnormal metacarpal morphology property_value: http://purl.org/dc/elements/1.1/date 2018-04-28T14:18:49Z xsd:dateTime created_by: peter [Term] id: HP:0031810 name: Anti-ganglioside antibody positivity def: "The presence of autoantibodies (immunoglobulins) in the serum that react to gangliosides." [OHSU:jpgourdine, PMID:8027366] is_a: HP:0030057 ! Autoimmune antibody positivity property_value: http://purl.org/dc/elements/1.1/date 2018-04-28T14:42:59Z xsd:dateTime created_by: peter [Term] id: HP:0031811 name: Bilirubinuria def: "Presence of conjugated bilirubin in the urine." [OHSU:jpgourdine] comment: Bilirubinuria may lead to a dark yellow to orange color of the urine. Conjugated bilirubin is excreted in the urine and thus conjugated hyperbilirubinemia may lead to bilirubinuria. is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: http://purl.org/dc/elements/1.1/date 2018-04-28T14:54:05Z xsd:dateTime created_by: peter [Term] id: HP:0031812 name: Nitrituria def: "Presence of nitrites in the urine." [OHSU:jpgourdine, PMID:27377945] comment: Nitrituria may be diagnosed on the basis of a positive test result on a urine dipstick test. Nitrites are not found in normal urine. Some gram-positive and gram-negative bacteria metabolize nitrates in urine to nitrites, and a positive urine dipstick test for nitrites most commonly suggests a bacterial urinary tract infection. is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: http://purl.org/dc/elements/1.1/date 2018-04-28T15:03:18Z xsd:dateTime created_by: peter [Term] id: HP:0031813 name: Colonic eosinophilia def: "An excess of eosinophilic cells in colonic tissue, i.e., eosinophilic infiltration in the colon." [PMID:21922029] synonym: "Eosinophilic infiltration in the colon" EXACT [] is_a: HP:0002037 ! Inflammation of the large intestine is_a: HP:0032064 ! Gastrointestinal eosinophilia property_value: http://purl.org/dc/elements/1.1/date 2018-04-28T21:07:47Z xsd:dateTime created_by: peter [Term] id: HP:0031814 name: Palilalia def: "Repetition of one's own words or phrases." [PMID:27527544] is_a: HP:0002167 ! Neurological speech impairment property_value: http://purl.org/dc/elements/1.1/date 2018-04-28T22:45:49Z xsd:dateTime created_by: peter [Term] id: HP:0031815 name: Abnormal oral physiology def: "A functional anomaly of the mouth (which is also known as the oral cavity)." [] comment: The physiological functions of the mouth include salivary gland secretory function, mastication (chewing) and preparation of food for swallowing. is_a: HP:0000153 ! Abnormality of the mouth property_value: http://purl.org/dc/elements/1.1/date 2018-04-29T14:50:56Z xsd:dateTime created_by: peter [Term] id: HP:0031816 name: Abnormal oral morphology def: "Any structural anomaly of the mouth, which is also known as the oral cavity." [] is_a: HP:0000153 ! Abnormality of the mouth property_value: http://purl.org/dc/elements/1.1/date 2018-04-29T14:55:47Z xsd:dateTime created_by: peter [Term] id: HP:0031817 name: Decreased circulating parathyroid hormone level def: "An abnormally decreased concentration of parathyroid hormone." [PMID:1302009, RGD:gthayman] synonym: "Decreased circulating PTH level" EXACT [] synonym: "Decreased serum parathyroid hormone" EXACT [] synonym: "Decreased serum parathyroid hormone level" EXACT [] synonym: "Decreased serum PTH" EXACT [] is_a: HP:0100530 ! Abnormal calcium-phosphate regulating hormone level property_value: http://purl.org/dc/elements/1.1/date 2018-05-01T01:55:46Z xsd:dateTime created_by: peter [Term] id: HP:0031818 name: Abnormal waist to hip ratio def: "A deviation from normal of the waist to hip ratio, defined as the waist measurement divided by hip measurement." [] is_a: HP:0004323 ! Abnormality of body weight property_value: http://purl.org/dc/elements/1.1/date 2018-05-01T02:06:09Z xsd:dateTime created_by: peter [Term] id: HP:0031819 name: Increased waist to hip ratio def: "Increased waist-to-hip ratio (WHR) is a measurement above the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement." [ORCID:0000-0001-5356-4174, PMID:12872269] synonym: "Increased waist-hip ratio" EXACT [] synonym: "Increased waist-to-hip ratio" EXACT [] synonym: "Increased WHR" EXACT [] is_a: HP:0031818 ! Abnormal waist to hip ratio property_value: http://purl.org/dc/elements/1.1/date 2018-05-01T02:08:12Z xsd:dateTime created_by: peter [Term] id: HP:0031820 name: Decreased waist to hip ratio def: "Decreased waist-to-hip ratio (WHR) is a measurement below the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement." [PMID:12872269, RGD:gthayman] synonym: "Decreased waist-hip ratio" EXACT [] synonym: "Decreased waist-to-hip ratio" EXACT [] synonym: "Decreased WHR" EXACT [] is_a: HP:0031818 ! Abnormal waist to hip ratio property_value: http://purl.org/dc/elements/1.1/date 2018-05-01T02:11:00Z xsd:dateTime created_by: peter [Term] id: HP:0031821 name: Abnormal hypoxanthine-guanine phosphoribosyltransferase level def: "Altered level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate." [RGD:sjwang] synonym: "Abnormal 6-hydroxypurine phosphoribosyltransferase level" EXACT [] synonym: "Abnormal GMP pyrophosphorylase level" EXACT [] synonym: "Abnormal GPRT level" EXACT [] is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity property_value: http://purl.org/dc/elements/1.1/date 2018-05-01T02:20:08Z xsd:dateTime created_by: peter [Term] id: HP:0031822 name: Elevated hypoxanthine-guanine phosphoribosyltransferase level def: "Abnormally increased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate." [RGD:sjwang] synonym: "Elevated 6-hydroxypurine phosphoribosyltransferase level" EXACT [] synonym: "Elevated 6-mercaptopurine phosphoribosyltransferase level" EXACT [] synonym: "Elevated GMP pyrophosphorylase level" EXACT [] is_a: HP:0031821 ! Abnormal hypoxanthine-guanine phosphoribosyltransferase level property_value: http://purl.org/dc/elements/1.1/date 2018-05-01T02:22:05Z xsd:dateTime created_by: peter [Term] id: HP:0031823 name: Reduced hypoxanthine-guanine phosphoribosyltransferase level def: "Abnormally decreased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate." [RGD:sjwang] synonym: "Reduced 6-hydroxypurine phosphoribosyltransferase level" EXACT [] synonym: "Reduced 6-mercaptopurine phosphoribosyltransferase level" EXACT [] synonym: "Reduced GMP pyrophosphorylase level" EXACT [] is_a: HP:0031821 ! Abnormal hypoxanthine-guanine phosphoribosyltransferase level property_value: http://purl.org/dc/elements/1.1/date 2018-05-01T02:23:27Z xsd:dateTime created_by: peter [Term] id: HP:0031824 name: Hepatic mastocytosis def: "Liver mast cell infiltration." [HPO:probinson, PMID:25009756] is_a: HP:0100495 ! Mastocytosis property_value: http://purl.org/dc/elements/1.1/date 2018-05-01T02:32:38Z xsd:dateTime created_by: peter [Term] id: HP:0031825 name: Freezing of gait def: "Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk." [PMID:23625316, PMID:27770207] comment: Freezing of gait is one of the most debilitating motor symptoms in patients with Parkinson's disease as it may lead to falls and a loss of independence. Patients may report that their feet are stuck to the floor as if held by magnets when trying to walk, resulting in a temporary blockage of the motor function involved in ambulation. synonym: "Freezing gait" EXACT [] is_a: HP:0001288 ! Gait disturbance property_value: http://purl.org/dc/elements/1.1/date 2018-05-02T00:28:50Z xsd:dateTime created_by: peter [Term] id: HP:0031826 name: Abnormal reflex def: "Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur)." [] is_a: HP:0100022 ! Abnormality of movement property_value: http://purl.org/dc/elements/1.1/date 2018-05-02T01:05:40Z xsd:dateTime created_by: peter [Term] id: HP:0031827 name: Absent abdominal reflex def: "Lack of contraction of abdominal muscles in the quadrant of the abdomen that is stimulated by scraping the skin tangential to or toward the umbilicus." [PMID:12531937, PMID:24785227] comment: A normal abdominal reflex can be observed as a brisk contraction of the umbilicus toward the quadrant that is stimulated. An absent abdominal reflex can point to neurological disease but may also be absent due to other causes such as obesity. synonym: "Abdominal reflex absent" EXACT [] is_a: HP:0031828 ! Abnormal superficial reflex property_value: http://purl.org/dc/elements/1.1/date 2018-05-02T01:07:23Z xsd:dateTime created_by: peter [Term] id: HP:0031828 name: Abnormal superficial reflex def: "An anomaly of a reflex that is elicited as a motor response to scraping of the skin. They are generally graded as present or absent. They differ from tendon reflexes in that the sensory signal must ascend the spinal cord to reach the brain and then descend the spinal cord to reach the motor neurons." [] is_a: HP:0031826 ! Abnormal reflex property_value: http://purl.org/dc/elements/1.1/date 2018-05-02T01:09:04Z xsd:dateTime created_by: peter [Term] id: HP:0031829 name: Absent cremaster reflex def: "Lack of response to scratching of the skin of the medial thigh, which inmales normally elicits a brisk, short eveletion of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex." [PMID:12891505] synonym: "Absent cremasteric reflex" EXACT [] is_a: HP:0031828 ! Abnormal superficial reflex property_value: http://purl.org/dc/elements/1.1/date 2018-05-02T01:11:18Z xsd:dateTime created_by: peter [Term] id: HP:0031830 name: Pinguecula def: "A pinguecula is a yellowish to brown protruding lesion in the conjunctiva that is easily seen on the nasal and temporal sides of the cornea." [PMID:24311926] is_a: HP:0000502 ! Abnormal conjunctiva morphology property_value: http://purl.org/dc/elements/1.1/date 2018-05-04T01:54:08Z xsd:dateTime created_by: peter [Term] id: HP:0031831 name: Decreased serum zinc def: "A reduced concentration of zinc in the blood." [PMID:16518702, RGD:gthayman] is_a: HP:0008277 ! Abnormal blood zinc concentration property_value: http://purl.org/dc/elements/1.1/date 2018-05-04T02:05:49Z xsd:dateTime created_by: peter [Term] id: HP:0031832 name: Hypermetric downward saccades def: "Overshoot of downward saccadic eye movements." [] is_a: HP:0007338 ! Hypermetric saccades property_value: http://purl.org/dc/elements/1.1/date 2018-05-04T02:38:07Z xsd:dateTime created_by: peter [Term] id: HP:0031833 name: Hypometric upward saccades def: "Saccadic undershoot of upward saccadic eye movements, i.e., an upward saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object." [] is_a: HP:0000571 ! Hypometric saccades property_value: http://purl.org/dc/elements/1.1/date 2018-05-04T02:39:32Z xsd:dateTime created_by: peter [Term] id: HP:0031834 name: Aortopulmonary collateral arteries def: "Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus." [MP:0010635, PMID:26467877] is_a: HP:0001679 ! Abnormal aortic morphology property_value: http://purl.org/dc/elements/1.1/date 2018-05-04T03:10:02Z xsd:dateTime created_by: peter [Term] id: HP:0031835 name: Abnormal superoxide dismutase activity def: "An abnormal level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide." [PMID:25276767, RGD:gthayman] synonym: "Abnormal superoxide:superoxide oxidoreductase activity" EXACT [] is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T12:59:29Z xsd:dateTime created_by: peter [Term] id: HP:0031836 name: Increased superoxide dismutase activity def: "Increased catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide." [RGD:gthayman] synonym: "Increased superoxide:superoxide oxidoreductase activity" EXACT [] is_a: HP:0031835 ! Abnormal superoxide dismutase activity property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T13:01:09Z xsd:dateTime created_by: peter [Term] id: HP:0031837 name: Decreased superoxide dismutase activity def: "Decreased catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide." [PMID:25276767, RGD:gthayman] synonym: "Decreased superoxide:superoxide oxidoreductase activity" EXACT [] is_a: HP:0031835 ! Abnormal superoxide dismutase activity property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T13:01:54Z xsd:dateTime created_by: peter [Term] id: HP:0031838 name: Presence of xenobiotic def: "Presence of a chemical substance found within an individual that is not naturally produced or expected to be present in human tissues or bodily fluids." [] synonym: "The presence of a xenobiotic in body tissues or fluids can be the result of ingestion of or exposure to substances such as drugs, environmental pollutants, food additives, hydrocarbons, and pesticides." EXACT [] is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T13:07:24Z xsd:dateTime created_by: peter [Term] id: HP:0031840 name: Urine xenobiotic def: "The presence of a xenobiotic in urine." [] is_a: HP:0031838 ! Presence of xenobiotic property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T14:15:17Z xsd:dateTime created_by: peter [Term] id: HP:0031841 name: Positive urine methadone test def: "Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in urine." [] comment: Methadone is an opioid drug that is used to treat severe pain or in the treatment of individiuals with opioid dependency. is_a: HP:0031840 ! Urine xenobiotic property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T14:18:14Z xsd:dateTime created_by: peter [Term] id: HP:0031842 name: Lymphangiectasis def: "Dilation of the lymphatic vessels, the basic process that may result in the formation of a lymphangioma." [MP:0004038] synonym: "Lymphangiectasia" EXACT [] is_a: HP:0100766 ! Abnormal lymphatic vessel morphology property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T14:44:27Z xsd:dateTime created_by: peter [Term] id: HP:0031843 name: Bradyphrenia def: "Abnormal slowness of thought processes." [PMID:25850732] synonym: "Slowness of thought" EXACT layperson [] is_a: HP:0100543 ! Cognitive impairment property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T15:04:12Z xsd:dateTime created_by: peter [Term] id: HP:0031844 name: Euphoria def: "A sense of intense joy or happiness that is beyond what would be expected under the given circumstances." [PMID:25834762] is_a: HP:0100851 ! Abnormal emotion/affect behavior property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T15:29:11Z xsd:dateTime created_by: peter [Term] id: HP:0031845 name: Abnormal libido def: "Any deviation from the normal sexual drive or desire for sexual activity." [] is_a: HP:0000080 ! Abnormality of reproductive system physiology property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T15:32:59Z xsd:dateTime created_by: peter [Term] id: HP:0031846 name: Femur fracture def: "A break or crush injury of the thigh bone (femur)." [] synonym: "Femoral fracture" EXACT [] xref: MeSH:D005264 is_a: HP:0002823 ! Abnormality of femur morphology property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T15:37:43Z xsd:dateTime created_by: peter [Term] id: HP:0031847 name: Difficulty walking backward def: "Reduced ability to walk (ambulate) in a backwards direction." [HPO:probinson] comment: We walk backward on a daily basis, such as when backing away from the kitchen sink or stepping back from a curb as a swiftly moving bus passes. This task may be particularly difficult for some individuals who can fall as a result of moving or being perturbed in the backward direction. Some individuals with Parkinson disease exhibit this feature. is_a: HP:0001288 ! Gait disturbance property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T15:41:41Z xsd:dateTime created_by: peter [Term] id: HP:0031848 name: Cock-walk gait def: "An abnormality of gait that can be observed in individuals with dystonic posture in which the individual walks with an extended trunk and flexed arms, while strutting on the toes without the heels touching the floor." [PMID:24746291] is_a: HP:0031954 ! Dystonic gait property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T15:45:59Z xsd:dateTime created_by: peter [Term] id: HP:0031849 name: Sleep-wake inversion def: "A reversal of sleeping habits with a tendency to sleep during the day and to be awake at night." [] is_a: HP:0006979 ! Sleep-wake cycle disturbance property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T15:51:56Z xsd:dateTime created_by: peter [Term] id: HP:0031850 name: Abnormal hematocrit def: "Any deviation from the normal ratio of the volume of red blood cells to the total volume of blood." [] comment: Note that the hematocrit is one of the measurements that can contribution to the diagnosis of anemia or polycythemia, which is coded separately. synonym: "Abnormal Hct" EXACT HP:0045077 [] is_a: HP:0001877 ! Abnormal erythrocyte morphology property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T15:58:22Z xsd:dateTime created_by: peter [Term] id: HP:0031851 name: Reduced hematocrit def: "A reduction below the normal ratio of the volume of red blood cells to the total volume of blood." [] synonym: "Low hematocrit" EXACT [] synonym: "Reduced Hct" EXACT HP:0045077 [] is_a: HP:0031850 ! Abnormal hematocrit property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T15:59:55Z xsd:dateTime created_by: peter [Term] id: HP:0031853 name: Isomerism def: "Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other." [PMID:21731561] comment: The word isomerism is also derived from the Greek: iso-meaning equal and meros-meaning part. Isomerism refers to structures that are themselves mirror-imaged. When used in the area of the congenitally malformed heart, the term isomerism has become the conventional description for the situation in which morphologically right structures or morphologically left structures are found on both sides of the body in the same individual. is_a: HP:0030853 ! Heterotaxy property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T18:12:17Z xsd:dateTime created_by: peter [Term] id: HP:0031854 name: Left Isomerism def: "A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal left-sided structures." [PMID:21731561] synonym: "Left-sided isomerism" EXACT [] is_a: HP:0031853 ! Isomerism property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T18:13:50Z xsd:dateTime created_by: peter [Term] id: HP:0031855 name: Right isomerism def: "A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures." [PMID:21731561] synonym: "Right-sided isomerism" EXACT [] is_a: HP:0031853 ! Isomerism property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T18:15:09Z xsd:dateTime created_by: peter [Term] id: HP:0031856 name: Hobby horse gait def: "An abnormal gait characterized by toe walking, stiff legs, and skipping. The gait pattern has some resemblance to cock-walk gait, but in affected individuals are able to\nimprove their dystonic gait by walking backward." [PMID:21956287] is_a: HP:0031954 ! Dystonic gait property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T18:27:42Z xsd:dateTime created_by: peter [Term] id: HP:0031857 name: Ineffective esophageal peristalsis def: "Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus." [] is_a: HP:0100771 ! Hypoperistalsis property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T18:42:33Z xsd:dateTime created_by: peter [Term] id: HP:0031858 name: Esophageal furrows def: "Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus)." [PMID:25368745] comment: Esophageal furrows may occur in inflammatory disorders of the esophagus such as eosinophilic esophagitis. is_a: HP:0002031 ! Abnormal esophagus morphology property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T18:45:29Z xsd:dateTime created_by: peter [Term] id: HP:0031860 name: Abnormal heart rate variability def: "Any abnormality in the variability of the time interval between successive heartbeats." [PMID:8598068] is_a: HP:0011675 ! Arrhythmia property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T21:02:07Z xsd:dateTime created_by: peter [Term] id: HP:0031861 name: Decreased heart rate variability def: "Reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle." [ORCID:0000-0001-5356-4174, PMID:8598068] synonym: "Reduced heart rate variability" EXACT [] is_a: HP:0031860 ! Abnormal heart rate variability property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T21:03:46Z xsd:dateTime created_by: peter [Term] id: HP:0031862 name: Increased heart rate variability def: "Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle." [ORCID:0000-0001-5356-4174, PMID:8598068] is_a: HP:0031860 ! Abnormal heart rate variability property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T21:05:04Z xsd:dateTime created_by: peter [Term] id: HP:0031863 name: Bloodstream infectious agent def: "The presence of an infectious agent in the blood circulation." [] comment: Infectious agents can be classified into five groups: viruses, bacteria, fungi, protozoa, and helminths (worms). is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T21:12:23Z xsd:dateTime created_by: peter [Term] id: HP:0031864 name: Bacteremia def: "Presence of viable bacteria in the blood." [] is_a: HP:0031863 ! Bloodstream infectious agent property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T21:13:44Z xsd:dateTime created_by: peter [Term] id: HP:0031865 name: Abnormal liver physiology def: "Any functional anomaly of the liver." [HPO:probinson] synonym: "Abnormal hepatic physiology" EXACT [] is_a: HP:0001392 ! Abnormality of the liver property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T21:20:15Z xsd:dateTime created_by: peter [Term] id: HP:0031866 name: Clasp-knife sign def: "Clasp-knife phenomonen refers to increased muscle tone while bending or stretching a limb, whereby there is a sudden relaxtion (decrease in resistance) as the muscle continues to be streched. This phenomenon has been likened to opening a clasp knife." [HPO:probinson] is_a: HP:0001257 ! Spasticity property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T21:28:20Z xsd:dateTime created_by: peter [Term] id: HP:0031867 name: Neck hypertonia def: "Increased passive stiffness or tightness of the neck musculature." [] is_a: HP:0001276 ! Hypertonia property_value: http://purl.org/dc/elements/1.1/date 2018-05-05T21:31:34Z xsd:dateTime created_by: peter [Term] id: HP:0031868 name: Optic ataxia def: "Difficulty reaching to visually guided goals in peripheral vision, with the deficit leaves voluntary eye movements largely unaffected." [ORDIC:0000-0002-6601-2165, PMID:24607223] comment: Optic ataxia is related to a cortical neurologic deficit that is a result of a lesion to the superior parietal lobule (SPL) and areas around the intraparietal sulcus (IPS). The phenomenon is thought not to be an apraxia (a disorder in executing learned behaviors), but rather a lack of coordination between visual input and motor outputs, and thus the term ataxia, Greek for Lack of Order. is_a: HP:0011446 ! Abnormality of higher mental function property_value: http://purl.org/dc/elements/1.1/date 2018-05-06T13:12:07Z xsd:dateTime created_by: peter [Term] id: HP:0031869 name: Recurrent joint dislocation def: "Dislocation of a given joint repeated times." [] is_a: HP:0001373 ! Joint dislocation property_value: http://purl.org/dc/elements/1.1/date 2018-05-06T13:19:21Z xsd:dateTime created_by: peter [Term] id: HP:0031870 name: Phosphohydroxylysinuria def: "An elevated concentration of phosphohydroxylysine in the urine." [HPO:probinson, PMID:23242558] comment: There are no clinical manifestations associated with phosphohydroxylysinuria other than the urinary metabolites. is_a: HP:0003355 ! Aminoaciduria property_value: http://purl.org/dc/elements/1.1/date 2018-05-06T13:30:12Z xsd:dateTime created_by: peter [Term] id: HP:0031871 name: Abnormal Langerhans cell morphology def: "Any functional anomaly of Langerhans cells, which are dendritic cells in the epidermis and some other locations. Langerhans cells play roles iin immune surveillance and homeostasis." [PMID:29449841] is_a: HP:0025461 ! Abnormal cell morphology property_value: http://purl.org/dc/elements/1.1/date 2018-05-06T13:33:50Z xsd:dateTime created_by: peter [Term] id: HP:0031872 name: Absent Birbeck granules in Langerhans cells def: "Birbeck granules (BG) are cytoplasmic organelles that are only found in Langerhans cells (LC). The function of BG is still not completely understood, although most studies point toward an active role in receptor-mediated endocytosis and participation in the antigen-processing/presenting function of LC. This feature refers to the absence of BG in LC, a feature that can be documented by means of electron microscopy." [HPO:probinson, PMID:15816828] is_a: HP:0031871 ! Abnormal Langerhans cell morphology property_value: http://purl.org/dc/elements/1.1/date 2018-05-06T13:41:13Z xsd:dateTime created_by: peter [Term] id: HP:0031873 name: Early chronotype def: "A tendency towards rising very early in the morning and going to bed early in the evening." [] synonym: "Early sleep onset" RELATED [] is_a: HP:0006979 ! Sleep-wake cycle disturbance property_value: http://purl.org/dc/elements/1.1/date 2018-05-06T13:57:20Z xsd:dateTime created_by: peter [Term] id: HP:0031874 name: Late chronotype def: "A tendency towards rising very late in the morning and going to bed late at night." [] synonym: "Late sleep onset" RELATED [] is_a: HP:0006979 ! Sleep-wake cycle disturbance property_value: http://purl.org/dc/elements/1.1/date 2018-05-06T14:03:08Z xsd:dateTime created_by: peter [Term] id: HP:0031875 name: Abnormal hepcidin level def: "Any deviation from the normal concentration of hepcidin in the blood circulation." [HPO:probinson, PMID:16450011] comment: Hepcidin, a 25-amino acid peptide exclusively synthesized by the liver, is the main iron regulatory hormone. is_a: HP:0010876 ! Abnormal circulating protein level property_value: http://purl.org/dc/elements/1.1/date 2018-05-06T14:11:07Z xsd:dateTime created_by: peter [Term] id: HP:0031876 name: Decreased hepcidin level def: "An abnormally reduced concentration of hepcidin in the blood circulation." [HPO:probinson, PMID:16450011] is_a: HP:0031875 ! Abnormal hepcidin level property_value: http://purl.org/dc/elements/1.1/date 2018-05-06T14:13:09Z xsd:dateTime created_by: peter [Term] id: HP:0031877 name: Elevated hepcidin level def: "An abnormally increased concentration of hepcidin in the blood circulation." [HPO:probinson, PMID:16450011] is_a: HP:0031875 ! Abnormal hepcidin level property_value: http://purl.org/dc/elements/1.1/date 2018-05-06T14:13:19Z xsd:dateTime created_by: peter [Term] id: HP:0031878 name: Acromicria def: "Small hands and feet in proportion to the rest of the body." [HPO:probinson, PMID:22043168] is_a: HP:0002813 ! Abnormality of limb bone morphology property_value: http://purl.org/dc/elements/1.1/date 2018-05-06T14:37:03Z xsd:dateTime created_by: peter [Term] id: HP:0031879 name: Abnormal eyelid physiology def: "Any functional abnormality of the eyelid." [] is_a: HP:0032040 ! Abnormal ocular adnexa physiology property_value: http://purl.org/dc/elements/1.1/date 2018-05-06T15:39:56Z xsd:dateTime created_by: peter [Term] id: HP:0031880 name: Eyelid laxity def: "Abnormally lax eyelid associated with tissue relaxation; it can be demonstrated by the eyelid distraction test and/or the eyelid snap test." [UManchester:psergouniotis] synonym: "Lid laxity" EXACT [] is_a: HP:0031879 ! Abnormal eyelid physiology property_value: http://purl.org/dc/elements/1.1/date 2018-05-06T15:42:01Z xsd:dateTime created_by: peter [Term] id: HP:0031881 name: Decreased tear drainage def: "A form of watery eye associated with obstruction of the nasolacrimal system. This may arise at the level of the punctum, the canaliculi, the sac or the nasolacrimal duct." [UManchester:psergouniotis] is_a: HP:0009926 ! Epiphora property_value: http://purl.org/dc/elements/1.1/date 2018-05-06T15:54:22Z xsd:dateTime created_by: peter [Term] id: HP:0031882 name: Agyria def: "A congenital abnormality of the cerebral hemisphere chacterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm." [COST:neuromig] synonym: "Agyria diffuse" EXACT [] is_a: HP:0001339 ! Lissencephaly property_value: http://purl.org/dc/elements/1.1/date 2018-05-06T16:11:19Z xsd:dateTime created_by: peter [Term] id: HP:0031883 name: Increased proinsulin:insulin ratio def: "An elevated concentration of proinsulin (the prohormone precursor to insulin) to mature insulin in the circulation." [RGD:gthayman] is_a: HP:0011014 ! Abnormal glucose homeostasis property_value: http://purl.org/dc/elements/1.1/date 2018-05-07T10:24:19Z xsd:dateTime created_by: peter [Term] id: HP:0031884 name: Abnormal CSF glucose level def: "A deviation from normal concentration of glucose content in the cerebrospinal fluid." [] is_a: HP:0025454 ! Abnormal CSF metabolite level property_value: http://purl.org/dc/elements/1.1/date 2018-05-13T13:54:21Z xsd:dateTime created_by: peter [Term] id: HP:0031885 name: Hyperglycorrhachia def: "Abnormally high glucose concentration in the cerebrospinal fluid." [HPO:nvasilevsky] is_a: HP:0031884 ! Abnormal CSF glucose level property_value: http://purl.org/dc/elements/1.1/date 2018-05-13T13:55:26Z xsd:dateTime created_by: peter [Term] id: HP:0031886 name: Abnormal LDL cholesterol concentration def: "Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation." [HPO:probinson] synonym: "Abnormal LDL-C concentration" EXACT HP:0045077 [] synonym: "Abnormal LDL-C level" EXACT HP:0045077 [] synonym: "Abnormal LDLc concentration" EXACT HP:0045077 [] is_a: HP:0010979 ! Abnormality of lipoprotein cholesterol concentration property_value: http://purl.org/dc/elements/1.1/date 2018-05-13T14:27:13Z xsd:dateTime created_by: peter [Term] id: HP:0031887 name: Abnormal chylomicron concentration def: "Any deviation from the normal circulating concentration of chylomicrons." [] comment: Chylomicrons are one of the major classes of lipoproteins. Like VLDL, they function to transport triacylglycerol (TAG) in the circulation. Chylomicrons are synthesized in the small intestine by enterocytes from absorbed lipids. Endothelial cells in the circulation can process TAG from chylomicrons by means of the cell-surface enzyme lipoprotein lipase, which digests the TAG to fatty acids and monoglycerides. is_a: HP:0010979 ! Abnormality of lipoprotein cholesterol concentration property_value: http://purl.org/dc/elements/1.1/date 2018-05-13T14:32:44Z xsd:dateTime created_by: peter [Term] id: HP:0031888 name: Abnormal HDL cholesterol concentration def: "Any deviation from the normal concentration of high-density lipoprotein cholesterol (HDL) in the blood." [] comment: HDL returns excess cholesterol from cells to the liver via various pathways. is_a: HP:0010979 ! Abnormality of lipoprotein cholesterol concentration property_value: http://purl.org/dc/elements/1.1/date 2018-05-13T14:42:38Z xsd:dateTime created_by: peter [Term] id: HP:0031889 name: Abnormal VLDL cholesterol concentration def: "Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood." [] comment: VLDL is synthesized in the liver and is involved in the transport of triacylglycerol (TAG) to the body. is_a: HP:0010979 ! Abnormality of lipoprotein cholesterol concentration property_value: http://purl.org/dc/elements/1.1/date 2018-05-13T14:47:34Z xsd:dateTime created_by: peter [Term] id: HP:0031890 name: Increased urine urobilinogen def: "An elevated concentration of urobilinogen in the urine." [] comment: Urobilinogen is formed from the reduction of bilirubin. An increased amount of urobilinogen in the urine may be indicative of liver disease. is_a: HP:0032472 ! Abnormal urine urobilinogen level property_value: http://purl.org/dc/elements/1.1/date 2018-05-13T20:23:52Z xsd:dateTime created_by: peter [Term] id: HP:0031891 name: Decreased eosinophil count def: "Abnormal reduction in the count of eosinophils in the blood per volume." [HPO:probinson] is_a: HP:0020064 ! Abnormal eosinophil count property_value: http://purl.org/dc/elements/1.1/date 2018-05-13T20:35:28Z xsd:dateTime created_by: peter [Term] id: HP:0031898 name: Rouleaux formation def: "Increased amount of stacking of erythrocytes into long chains. Rouleaux (singular: rouleau) is derived from a French word that can refer to a stack of coins put into a cylindircal paper roll. Rouleaux formation is observed with increased serum proteins, particularly fibrinogen and globulins, and represents the cause of increased erythrocte sedimentation rate because rouleaux sediment more readily than isolated red blood cells." [HPO:probinson, PMID:16739263] synonym: "Increased rouleaux formation" EXACT [] is_a: HP:0001877 ! Abnormal erythrocyte morphology property_value: http://purl.org/dc/elements/1.1/date 2018-05-19T15:09:54Z xsd:dateTime created_by: peter [Term] id: HP:0031899 name: Abnormal coagulation factor V activity def: "Any deviation from the activity of coagulation factor V." [] comment: Factor V is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex. synonym: "Abnormal factor V activity" EXACT [] is_a: HP:0010990 ! Abnormality of the common coagulation pathway property_value: http://purl.org/dc/elements/1.1/date 2018-05-19T15:11:38Z xsd:dateTime created_by: peter [Term] id: HP:0031900 name: Abnormal serum mast cell beta-tryptase concentration def: "Any deviation from the normal circulating concentration of mast cell beta-tryptase concentration." [HPO:probinson, PMID:15200544] comment: Mast cells, which are granulocytes found in peripheral tissue, play a central role in inflammatory and immediate allergic reactions. Beta-Tryptase is a neutral serine protease and is the most abundant mediator stored in mast cell granules. The release of beta-tryptase from the secretory granules is a characteristic feature of mast cell degranulation. Mast cell beta-tryptase has an important role in inflammation and serves as a marker of mast cell activation. Beta-Tryptase activates the protease activated receptor type 2. It is involved in airway homeostasis, vascular relaxation and contraction, gastrointestinal smooth muscle activity and intestinal transport, and coagulation. Serum mast cell beta-tryptase concentration is increased in anaphylaxis and in other allergic conditions. is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity property_value: http://purl.org/dc/elements/1.1/date 2018-05-19T15:14:54Z xsd:dateTime created_by: peter [Term] id: HP:0031901 name: Increased serum mast cell beta-tryptase concentration def: "An abnormally elevated circulating concentration of mast cell beta-tryptase concentration." [] is_a: HP:0031900 ! Abnormal serum mast cell beta-tryptase concentration property_value: http://purl.org/dc/elements/1.1/date 2018-05-19T15:17:36Z xsd:dateTime created_by: peter [Term] id: HP:0031902 name: Decreased serum mast cell beta-tryptase concentration def: "An abnormally reduced circulating concentration of mast cell beta-tryptase concentration." [] is_a: HP:0031900 ! Abnormal serum mast cell beta-tryptase concentration property_value: http://purl.org/dc/elements/1.1/date 2018-05-19T15:17:42Z xsd:dateTime created_by: peter [Term] id: HP:0031903 name: Abnormal circulating selenium concentration def: "Any deviation from the normal circulating concentration of selenium." [HPO:probinson, PMID:26045617, PMID:29494512] comment: Selenium (Se) is an essential micronutrient that exists in the form of selenocysteine (Sec), the 21st amino acid, upon its incorporation into selenoproteins via the tRNA[Sec] encoded by Trsp. Dietary intake of the micronutrient selenium is essential for normal immune functions. Selenium is cotranslationally incorporated as the 21st amino acid, selenocysteine, into selenoproteins that function to modulate pathways involved in inflammation. synonym: "Abnormal serum selenium concentration" EXACT [] is_a: HP:0032180 ! Abnormal circulating metabolite concentration property_value: http://purl.org/dc/elements/1.1/date 2018-05-19T15:19:13Z xsd:dateTime created_by: peter [Term] id: HP:0031904 name: Abnormal total hemolytic complement activity def: "Any deviation from the normal total hemolytic complement activity in the circulation." [] comment: The total hemolytic complement test, also known as the CH50, is a screening test for total complement activity. synonym: "Abnormal CH50" EXACT [] is_a: HP:0005339 ! Abnormality of complement system property_value: http://purl.org/dc/elements/1.1/date 2018-05-19T15:22:54Z xsd:dateTime created_by: peter [Term] id: HP:0031905 name: Increased total hemolytic complement activity def: "An abnormally elevated total hemolytic complement activity in the circulation." [HPO:probinson] is_a: HP:0031904 ! Abnormal total hemolytic complement activity property_value: http://purl.org/dc/elements/1.1/date 2018-05-19T15:27:17Z xsd:dateTime created_by: peter [Term] id: HP:0031906 name: Decreased total hemolytic complement activity def: "An abnormally reduced total hemolytic complement activity in the circulation." [HPO:probinson] is_a: HP:0031904 ! Abnormal total hemolytic complement activity property_value: http://purl.org/dc/elements/1.1/date 2018-05-19T15:27:49Z xsd:dateTime created_by: peter [Term] id: HP:0031907 name: Anti-mitochondrial M2 antibody positivity def: "The presence of M2 nti-mitochondrial antibody (immunoglobulins) in the serum." [] comment: Anti-mitochondrial antibody (AMA) can be tested via indirect immunofluorescence. The auto-antigens of AMA have been identified as pyruvate dehydrogenase complex-E2 (PDC-E2), branched-chain 2-oxo acid dehydrogenase complex and 2-oxoglutaric acid dehydrogenase complex. The antibody to these antigens is known as AMA-M2. AMA-M2 is more specific to PBC than AMA, and the determination of its titer is feasible synonym: "AMA-M2 positive" EXACT HP:0045077 [] is_a: HP:0030057 ! Autoimmune antibody positivity property_value: http://purl.org/dc/elements/1.1/date 2018-05-19T15:34:03Z xsd:dateTime created_by: peter [Term] id: HP:0031908 name: Micrographia def: "Abnormally small sized handwriting defined formally as an impairment of a fine motor skill manifesting mainly as a progressive or stable reduction in amplitude during a writing task." [HPO:probinson, PMID:29403348] is_a: HP:0011446 ! Abnormality of higher mental function property_value: http://purl.org/dc/elements/1.1/date 2018-05-19T15:50:06Z xsd:dateTime created_by: peter [Term] id: HP:0031909 name: Unicornuate uterus def: "A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn." [PMID:28811816] comment: A unicornuate uterus with a rudimentary horn is an anomaly caused by defective fusion of one of the paired Mullerian ducts. The incidence of rudimentary-horn pregnancy is estimated to be one in 76,000 pregnancies. Life-threateningly heavy bleeding and abortion are the anticipated outcomes of rudimentary horn pregnancies. According to the literature, the newborn survival rate is between 0-13 percent in pregnancies in the rudimentary horn, with only one third of such gestations reaching term or beyond. Slightly more than half of the pregnancies ended with a rupture of the pregnant uterine horn. is_a: HP:0031105 ! Abnormal uterus morphology property_value: http://purl.org/dc/elements/1.1/date 2018-06-23T13:42:08Z xsd:dateTime created_by: peter [Term] id: HP:0031910 name: Abnormal cranial nerve physiology def: "A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem." [] is_a: HP:0012638 ! Abnormality of nervous system physiology property_value: http://purl.org/dc/elements/1.1/date 2018-06-23T13:49:43Z xsd:dateTime created_by: peter [Term] id: HP:0031911 name: Abnormal fifth cranial nerve physiology is_a: HP:0031910 ! Abnormal cranial nerve physiology property_value: http://purl.org/dc/elements/1.1/date 2018-06-23T13:55:25Z xsd:dateTime created_by: peter [Term] id: HP:0031912 name: Trigeminal anesthesia def: "Decreased or absent sensation in the distribution of the trigeminal nerve, which provides tactile, proprioceptive, and nociceptive sensation in the area of the face and mouth." [https://orcid.org/0000-0002-3194-8625, PMID:10653422, PMID:2256843] synonym: "Trigeminal anaesthesia" EXACT HP:0045076 [] is_a: HP:0031911 ! Abnormal fifth cranial nerve physiology property_value: http://purl.org/dc/elements/1.1/date 2018-06-23T13:56:37Z xsd:dateTime created_by: peter [Term] id: HP:0031913 name: Rhombencephalosynapsis def: "Rhombencephalosynapsis is a rare brain malformation defined by midline fusion of the cerebellar hemispheres with partial or complete loss of the intervening vermis." [https://orcid.org/0000-0002-3194-8625, PMID:22451504] comment: Rhombencephalosynapsis occurs in isolation or in combination with other CNS and extra-CNS malformations. The most common congenital anomaly syndrome associated with RES is Gomez-Lopez-Hernandez syndrome. is_a: HP:0001317 ! Abnormal cerebellum morphology property_value: http://purl.org/dc/elements/1.1/date 2018-06-23T17:46:39Z xsd:dateTime created_by: peter [Term] id: HP:0031914 name: Fluctuating def: "Varying irregularly over time in severity, amount, or amplitude." [] is_a: HP:0011008 ! Temporal pattern property_value: http://purl.org/dc/elements/1.1/date 2018-07-01T21:29:25Z xsd:dateTime created_by: peter [Term] id: HP:0031915 name: Stable def: "This modifer can be applied to a phenotypic feature that does not vary in severity or amount over time." [] is_a: HP:0011008 ! Temporal pattern property_value: http://purl.org/dc/elements/1.1/date 2018-07-01T21:31:19Z xsd:dateTime created_by: peter [Term] id: HP:0031917 name: Digital ulcer def: "On open sore on the surface of the skin of a finger or toe." [] comment: Digital ulcers are a common manifestation of systemic sclerosis, and can be responsible for substantial pain and mobidity. is_a: HP:0200042 ! Skin ulcer property_value: http://purl.org/dc/elements/1.1/date 2018-07-02T00:51:19Z xsd:dateTime created_by: peter [Term] id: HP:0031918 name: Ovarian sex cord-stromal tumor def: "A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts." [NCIT:C4862, PMID:27858568] is_a: HP:0100615 ! Ovarian neoplasm property_value: http://purl.org/dc/elements/1.1/date 2018-07-02T10:46:29Z xsd:dateTime created_by: peter [Term] id: HP:0031919 name: Juvenile type ovarian granulosa cell tumor def: "Juvenile granulosa cell ovarian tumor (JGCOT) is a rare sex cord stromal tumor, occuring most frequently in premenarchal girls or young women. In contrast to adult granulosa cell tumor, JGCOT has a high mitotic index and more aggressive tumor growth. Microscopically it is seen as diffuse and regularly distributed neoplastic cells with a wide cytoplasm and pleomorphic hyperchromatic nucleus. Follicle formation, in various sizes and shapes, is important in JGCOT. Call-Exner bodies are infrequently seen in JGCOT in contrast to the adult type." [NCIT:C7289, PMID:25788847] synonym: "Ovarian juvenile granulosa cell tumor" EXACT [] synonym: "Ovarian juvenile granulosa cell tumour" EXACT HP:0045076 [] is_a: HP:0031918 ! Ovarian sex cord-stromal tumor property_value: http://purl.org/dc/elements/1.1/date 2018-07-02T10:52:27Z xsd:dateTime created_by: peter [Term] id: HP:0031920 name: Malignant ovarian granulosa cell tumor def: "An aggressive granulosa cell tumor that arises from the ovary." [NCIT:C8403] is_a: HP:0100615 ! Ovarian neoplasm property_value: http://purl.org/dc/elements/1.1/date 2018-07-02T11:18:43Z xsd:dateTime created_by: peter [Term] id: HP:0031921 name: Gastrocnemius myalgia def: "Pain of the gastrocnemius muscle." [PMID:29491286] comment: The gastrocnemius is located together with the soleus muscle in the calf of the leg. Gastrocnemius myalgia refers to pain and tenderness in this muscle with a course of weeks or months or more. Gastrocnemius myalgia is a rarely observed initial manifestion of Crohn disease. synonym: "Calf muscle pain" EXACT layperson [] synonym: "Calf myalgia" EXACT [] is_a: HP:0003326 ! Myalgia property_value: http://purl.org/dc/elements/1.1/date 2018-07-04T11:57:08Z xsd:dateTime created_by: peter [Term] id: HP:0031922 name: Renal artery duplication def: "The renal arteries carry blood from the aorta to the kidney; normally one renal artery is present on each side of the body. Renal artery duplication refers to the presence of two rather than one renal artery on a given side of the body." [PMID:15378279, PMID:21475502] comment: Double renal arteries with aortic origin is a benign condition representing the persistence of the embryonic vessels, the lateral branches of the mesonephros, within the renal ascent. The embryonic urogenital ridge from which the kidneys develop is supplied by several paired arteries: the rete arteriosum urogenitale. The later developing metanephric kidneys retain only a single pair of mesonephric arteries, however a variable number may persist. synonym: "Accessory renal artery" EXACT [] synonym: "Double renal artery" EXACT [] is_a: HP:0008776 ! Abnormal renal artery morphology property_value: http://purl.org/dc/elements/1.1/date 2018-07-04T12:09:29Z xsd:dateTime created_by: peter [Term] id: HP:0031923 name: Hematocolpos def: "Accumulation of blood in the vagina usually due to vaginal obstruction." [PMID:29479403] synonym: "Haematocolpos" EXACT HP:0045076 [] is_a: HP:0000142 ! Abnormal vagina morphology property_value: http://purl.org/dc/elements/1.1/date 2018-07-04T12:19:38Z xsd:dateTime created_by: peter [Term] id: HP:0031924 name: Rope sign def: "The presence of linear erythematous palpable cords, often on the lateral trunk." [PMID:16935918, PMID:26131871] comment: Its associations include connective tissue disease (particularly SLE), rheumatoid arthritis, autoimmune thyroiditis, carcinomas and drug reactions. Histology reveals an interstitial and palisading granulomatous dermatitis associated with piecemeal fragmentation of collagen and elastic fibres is_a: HP:0011355 ! Localized skin lesion property_value: http://purl.org/dc/elements/1.1/date 2018-07-04T12:31:32Z xsd:dateTime created_by: peter [Term] id: HP:0031925 name: Rosette def: "A halo or spoke-wheel arrangement of cells surrounding a central core or hub. The central hub may consist of an empty-appearing lumen or a space filled with cytoplasmic processes. The cytoplasm of each of the cells in the rosette is often wedge-shaped with the apex directed toward the central core; the nuclei of the cells participating in the rosette are peripherally positioned and form a ring or halo around the hub." [PMID:16551982] comment: Rosettes are named for the flower-like architectural ornament, this pattern resembles the rose windows found in many gothic cathedrals. Rosettes may be considered primary or secondary manifestations of tumor architecture. Primary rosettes form as a characteristic growth pattern of a given tumor type, whereas secondary rosettes result from the influence of external factors on tumor growth. is_a: HP:0025461 ! Abnormal cell morphology property_value: http://purl.org/dc/elements/1.1/date 2018-07-04T13:22:47Z xsd:dateTime created_by: peter [Term] id: HP:0031926 name: Homer Wright rosette def: "A type of rosette in which the central lumen or hub is filled with fiber-like processes." [PMID:16551982] comment: The delicate fibrillary material found within the central lumen of the Homer Wright rosette is composed of neuropil, which contains primitive neuronal processes or neurites. The typical Homer Wright rosette with its central lumen or hub filled with fiber-like processes can also be found in medulloblastomas and histologically similar tumors occurring outside of the cerebellum, designated PNETs. is_a: HP:0031925 ! Rosette property_value: http://purl.org/dc/elements/1.1/date 2018-07-04T13:24:50Z xsd:dateTime created_by: peter [Term] id: HP:0031927 name: Flexner-Wintersteiner rosette def: "The tumor cells that form the Flexner-Wintersteiner rosette circumscribe a central lumen that contains small cytoplasmic extensions of the encircling cells; however, unlike the center of the Homer Wright rosette, the central lumen does not contain the fiber-rich neuropil." [PMID:16551982] comment: A type of rosette in which a halo of cells surrounds a largely empty central hub. Small cytoplasmic extensions from the cells project into the lumen. is_a: HP:0031925 ! Rosette property_value: http://purl.org/dc/elements/1.1/date 2018-07-04T13:26:44Z xsd:dateTime created_by: peter [Term] id: HP:0031928 name: True ependymal rosette def: "A type of rosette in which a halo of cells surrounds an empty lumen." [PMID:16551982] comment: In contrast to the Homer Wright and the Flexner-Wintersteiner rosettes, the empty-appearing lumen of the true ependymal rosette resembles a tubule lumen and contains no fiber-rich neuropil or central cytoplasmic projections. These tubule-like structures, as well as more elongated versions known as ependymal canals, may represent an attempt by the tumor cells to recapitulate the formation of ventricles with ependymal linings. is_a: HP:0031925 ! Rosette property_value: http://purl.org/dc/elements/1.1/date 2018-07-04T13:28:48Z xsd:dateTime created_by: peter [Term] id: HP:0031929 name: Perivascular pseudorosette def: "A type of rosette in which a spoke-wheel arrangement of cells with tapered cellular processes radiates around a wall of a centrally placed vessel." [PMID:16551982] comment: The modifier pseudo differentiates this pattern from the Homer Wright and Flexner-Wintersteiner rosettes, perhaps because the central structure is not actually formed by the tumor itself, but instead represents a native, non-neoplastic element. Also, some early investigators argued about the definition of a central lumen, choosing pseudo to indicate that the hub was not a true lumen but contained structures. Nevertheless, this pattern remains extremely diagnostically useful and the modifier unnecessarily leads to confusion. Perivascular pseudorosettes are encountered in most ependymomas regardless of grade or variant. is_a: HP:0031925 ! Rosette property_value: http://purl.org/dc/elements/1.1/date 2018-07-04T13:30:24Z xsd:dateTime created_by: peter [Term] id: HP:0031930 name: Neurocytic rosette def: "A type of rosette that is similar to the Homer Wright rosette, but the central fiber-rich neuropil island is larger and more irregular." [PMID:16551982] comment: Pineocytomas and central neurocytomas represent well-differentiated neuronal neoplasms with small rounded nuclei, analogous to those normally encountered in the internal granular layer of the cerebellum or the dentate fascia of the hippocampus. Although they likely originate from slightly different precursors, the histologic features of these two tumors are virtually identical, including their tendency to form neuropil-rich rosettes, referred to as pineocytomatous rosettes in pineocytomas and neurocytic rosettes in central neurocytoma synonym: "Pineocytomatous rosette" EXACT [] is_a: HP:0031925 ! Rosette property_value: http://purl.org/dc/elements/1.1/date 2018-07-04T13:32:31Z xsd:dateTime created_by: peter [Term] id: HP:0031931 name: Ocular flutter def: "Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation." [PMID:17314191, UManchester:psergouniotis] is_a: HP:0012547 ! Abnormal involuntary eye movements is_a: HP:0032104 ! Saccadic oscillation property_value: http://purl.org/dc/elements/1.1/date 2018-07-04T20:01:21Z xsd:dateTime created_by: peter [Term] id: HP:0031932 name: Aorto-left ventricular tunnel def: "Aorto-left ventricular tunnel (ALVT) is a congenital extracardiac channel connecting the ascending aorta above the sino-tubular junction to either left ventricular cavity." [PMID:26085759] comment: ALVT is extremely rare with incidence as low as 0.001% of all congenital heart diseases. Most of the patients develop symptoms of heart failure during the first year of life. The onset, severity and progression of heart failure vary and ranges from in-utero fetal death to asymptomatic adulthood. synonym: "Left ventricle to aorta tunnel" EXACT [] is_a: HP:0011627 ! Aorto-ventricular tunnel property_value: http://purl.org/dc/elements/1.1/date 2018-07-04T20:38:35Z xsd:dateTime created_by: peter [Term] id: HP:0031933 name: Aorto-right ventricular tunnel def: "The presence of an extracardiac channel that connects the ascending aorta above the sinotubular junction to the cavity of the right ventricle." [PMID:27525240] synonym: "Right ventricle to aorta tunnel" EXACT [] is_a: HP:0011627 ! Aorto-ventricular tunnel property_value: http://purl.org/dc/elements/1.1/date 2018-07-04T20:40:18Z xsd:dateTime created_by: peter [Term] id: HP:0031934 name: Abnormal descending aorta morphology def: "A structural abnormality of the part of the aorta that begins at the aortic arch and then descends through the chest and abdomen." [] is_a: HP:0001679 ! Abnormal aortic morphology property_value: http://purl.org/dc/elements/1.1/date 2018-07-04T20:44:36Z xsd:dateTime created_by: peter [Term] id: HP:0031935 name: Ascending aorta hypoplasia def: "Significant luminal narrowing of a long segment of or the entire ascending aorta." [PMID:13938144] comment: Coarctation of the aorta is defined as significant luminal narrowing of the aorta that produces hemodynamically significant obstruction to the flow of blood. This process may affect a short isolated segment of the aorta or a longer and more diffuse segment. When longer segments of the aorta are narrowed, the term hypoplasia is often used. Much less common than segmental coarctation, aortic hypoplasia has been described in all portions of the thoracic and abdominal aorta. is_a: HP:0031784 ! Abnormal ascending aorta morphology property_value: http://purl.org/dc/elements/1.1/date 2018-07-04T20:46:37Z xsd:dateTime created_by: peter [Term] id: HP:0031936 name: Delayed ability to walk def: "A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months." [] synonym: "Delayed walking" EXACT [] is_a: HP:0002194 ! Delayed gross motor development property_value: http://purl.org/dc/elements/1.1/date 2018-07-04T21:00:51Z xsd:dateTime created_by: peter [Term] id: HP:0031937 name: Tachylalia def: "Extreme rapidity of speech." [] synonym: "Tachylogia" EXACT [] is_a: HP:0002167 ! Neurological speech impairment property_value: http://purl.org/dc/elements/1.1/date 2018-07-04T21:09:19Z xsd:dateTime created_by: peter [Term] id: HP:0031938 name: Abnormal conus terminalis morphology def: "Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usaully between the L1 and L2 lumbar vertebrae)." [] comment: The tapering end of the conus terminalis continues as the filum terminale. synonym: "Abnormal conus medullaris morphology" EXACT [] is_a: HP:0002143 ! Abnormality of the spinal cord property_value: http://purl.org/dc/elements/1.1/date 2018-07-05T13:09:44Z xsd:dateTime created_by: peter [Term] id: HP:0031939 name: Conus terminalis arteriovenous malformation comment: An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries with location in the conus terminalis. {xref="PMID:27485904"} is_a: HP:0031938 ! Abnormal conus terminalis morphology property_value: http://purl.org/dc/elements/1.1/date 2018-07-05T13:14:07Z xsd:dateTime created_by: peter [Term] id: HP:0031941 name: Abnormal portal venous system morphology def: "Any structural anomaly of the portal venous sytem, which comprises all of the veins draining the abdominal part of the digestive tract, including the lower esophagus but excluding the lower anal canal. The portal vein conveys blood from viscera and ramifies like an artery at the liver, ending at the sinusoids. Tributaries of the portal vein, which make up the portal venous system, are the splenic, superior mesenteric, left gastric, right gastric, paraumbilical, and cystic veins." [PMID:11796904] is_a: HP:0006707 ! Abnormality of the hepatic vasculature property_value: http://purl.org/dc/elements/1.1/date 2018-07-05T13:39:22Z xsd:dateTime created_by: peter [Term] id: HP:0031942 name: Congenital absence of portal vein def: "Anomaly where the intestinal and the splenic venous drainage bypass the liver and drain into systemic veins through other possible venous shunts." [PMID:18932274, PMID:2053351] synonym: "CAPV" EXACT HP:0045077 [] synonym: "Missing portal vein" EXACT [] is_a: HP:0031941 ! Abnormal portal venous system morphology property_value: http://purl.org/dc/elements/1.1/date 2018-07-05T13:42:31Z xsd:dateTime created_by: peter [Term] id: HP:0031943 name: Akathisia def: "A state of moror restlessness, usually in the lower extremities, that is often but not always accompanied by a subjective sense of inner restlessness, an urge to move, and anxiety or dysphoria." [PMID:17974927] is_a: HP:0000711 ! Restlessness property_value: http://purl.org/dc/elements/1.1/date 2018-07-05T13:57:19Z xsd:dateTime created_by: peter [Term] id: HP:0031944 name: Pleural thickening def: "An increase in the thickness of the pleura, generally related to scarring of the pleural tissue." [PMID:23287997] is_a: HP:0002103 ! Abnormality of the pleura property_value: http://purl.org/dc/elements/1.1/date 2018-07-05T14:02:51Z xsd:dateTime created_by: peter [Term] id: HP:0031945 name: Elevated N,N-dimethylglycine level def: "An increased concentration of N,N-dimethylglycine in the circulation." [] comment: An important metabolic pathway for choline involves its conversion into glycine via betaine aldehyde, betaine, N,N-dimethylglycine (DMG),1 and sarcosine. DMG is converted into sarcosine and sarcosine is converted into glycine by two oxidative demethylation steps mediated by DMG dehydrogenase (DMGDH; EC 1.5.99.2) and sarcosine dehydrogenase (EC 1.5.99.1), respectively. An increased concentration of DMG of DMG can caused by a deficiency of the enzyme dimethylglycine dehydrogenase (DMGDH), which normally catalyzes the conversion of DMG into sarcosine as well as the conversion of sarcosine into glycine. is_a: HP:0003112 ! Abnormality of serum amino acid level property_value: http://purl.org/dc/elements/1.1/date 2018-07-06T11:54:09Z xsd:dateTime created_by: peter [Term] id: HP:0031946 name: Elevated urinary N,N-dimethylglycine level def: "An increased concentration of N,N-dimethylglycine in the urine." [] is_a: HP:0003355 ! Aminoaciduria property_value: http://purl.org/dc/elements/1.1/date 2018-07-06T11:59:21Z xsd:dateTime created_by: peter [Term] id: HP:0031947 name: Tongue tremor def: "An unintentional, oscillating to-and-fro muscle movement affecting the tongue." [] synonym: "Jerky movements of the tongue" RELATED layperson [] is_a: HP:0030188 ! Tremor by anatomical site property_value: http://purl.org/dc/elements/1.1/date 2018-07-06T12:11:14Z xsd:dateTime created_by: peter [Term] id: HP:0031948 name: Snowball lesion of corpus callosum def: "Centrally located corpus callosum hyperintensities said to resemble snowballs upon magnetic resonance imaging (with T2 or Sagittal fluid attenuated inversion recovery [FLAIR] sequences). The central location in the callosum makes them pathognomonic for Susac syndrome." [PMID:24663235, PMID:26991403] is_a: HP:0001273 ! Abnormal corpus callosum morphology property_value: http://purl.org/dc/elements/1.1/date 2018-07-06T12:16:20Z xsd:dateTime created_by: peter [Term] id: HP:0031949 name: Recurrent bacterial upper respiratory tract infections def: "An increased susceptibility to bacterial upper respiratory tract infections as manifested by a history of recurrent bacterial upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis)." [PMID:26424818] synonym: "Recurrent bacterial URI" EXACT HP:0045077 [] is_a: HP:0002788 ! Recurrent upper respiratory tract infections property_value: http://purl.org/dc/elements/1.1/date 2018-07-06T12:24:36Z xsd:dateTime created_by: peter [Term] id: HP:0031950 name: Usual interstitial pneumonia def: "Temporal and spatial heterogeneity in lungs based on presence of fibrosis and honeycombing." [PMID:26666486, PMID:8697837] comment: Usual interstitial pneumonia (UIP) is usually identified by a honeycombing pattern in a CT scan; in contrast, diffuse interstitial pneumonia (DIP) is not associated with the honeycombing pattern of fibrotic tissue. DIP tends to stabilize or improve after treatment, UIP often continues to progress (irregular lines or honeycombing). Honeycombing, clustered cysts with well-defined walls involving the subpleural lung, is the key finding for making a definite diagnosis of UIP pattern. UIP is associated with autoimmune diseases such as rheumatoid arthritis (and rheumatoid arthritis-interstitial lung disease, or RA-ILD). is_a: HP:0006530 ! Interstitial pulmonary abnormality property_value: http://purl.org/dc/elements/1.1/date 2018-07-06T12:27:18Z xsd:dateTime created_by: peter [Term] id: HP:0031951 name: Nocturnal seizures def: "Seizures that occur while the affected individual is sleeping." [PMID:22334817, PMID:23385697, PMID:25941204] synonym: "Sleep seizures" EXACT [] is_a: HP:0001250 ! Seizures property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T12:33:57Z xsd:dateTime created_by: peter [Term] id: HP:0031952 name: Neurogenic claudication def: "Lumbar spinal stenoses may induce symptoms following an individually typical latency on standing or when walking due to swelling of the cauda equina, which leads to compression. This is referred to as neurogenic claudication. The symptoms of lumbar spinal stenosis can be explained by an increase in lumbar lordosis and spinal canal stenosis in an upright position compared to the sitting position or if spondylolisthesis is present by a shift of the vertebrae while standing and walking. Following an individually characteristic distance, walking becomes associated with deep muscular pain and with neurological deficits, such as sensory deficits and paresis in the lower limbs, which resolve within minutes when the affected person sits or lies down. Activities performed in a flexed posture, such as cycling often cause less problems than walking. For the same reason, walking uphill may be tolerated better than walking downhill. Clinical neurological examination at rest may be entirely normal but there is usually pain on hyperextension of the lumbar spine." [PMID:27770207] is_a: HP:0001288 ! Gait disturbance property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T13:44:53Z xsd:dateTime created_by: peter [Term] id: HP:0031953 name: Cautious gait def: "Cautious gait refers to an excessive degree of age-related changes in walking and fear of falling. The walking difficulties seem out of proportion when considering the patient's actual sensory or motor deficits. The gait appears slow, with a wider base than normal, reduced arm swing bilaterally and a slightly stooped posture. This type of gait change often occurs after the first time a patient has fallen." [] synonym: "Senile gait" EXACT [] is_a: HP:0001288 ! Gait disturbance property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T13:46:20Z xsd:dateTime created_by: peter [Term] id: HP:0031954 name: Dystonic gait def: "Dystonic gait disorders frequently appear bizarre, particularly because activity increases dystonic tonus and posture. The abnormal posture of the foot in dystonic gait typically involves inversion, plantar flexion and tonic extension of the big toe. In many patients complex types of walking, such as walking backwards and running are paradoxically less impaired than walking forward and may seem completely unaffected. Sensory tricks, for instance, if the affected individual rests a hand on his or her neck, may improve or even normalize dystonic gait in some patients." [PMID:27770207] is_a: HP:0001288 ! Gait disturbance property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T13:48:21Z xsd:dateTime created_by: peter [Term] id: HP:0031955 name: Antalgic gait def: "To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position." [PMID:27770207] synonym: "Limp" RELATED [] is_a: HP:0001288 ! Gait disturbance property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T13:50:24Z xsd:dateTime created_by: peter [Term] id: HP:0031956 name: Elevated serum aspartate aminotransferase def: "An abnormally high concentration in the circulation of aspartate aminotransferase (AST)." [] synonym: "Aspartate aminotransferase increased" EXACT [] synonym: "Elevated serum AST" EXACT HP:0045077 [] synonym: "Elevated serum glutamic oxaloacetic transaminase" EXACT [] is_a: HP:0002910 ! Elevated hepatic transaminase property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T13:54:55Z xsd:dateTime created_by: peter [Term] id: HP:0031957 name: Spastic hemiparetic gait def: "Spastic hemiparesis is characterized by a dominance of the tonus in the upper limb flexor muscles: the arm is held in an adducted posture and is bent and rotated inwards, the forearm is pronated and the hand and the fingers are flexed. The leg is slightly bent at the hip, the knee cannot be extended fully at the end of the stance phase and the foot is inverted and in a plantar flexed position. Gait is slow, with a wide base and asymmetrical with a shortened weight-bearing phase on the paretic side. During the swing phase, the paretic leg performs a lateral movement (circumduction) which is characteristic of this gait disorder, also termed Wernicke-Mann gait. Spastic gait problems typically worsen on attempts to walk faster." [PMID:27770207] synonym: "Wernicke-Mann gait" EXACT [] is_a: HP:0002064 ! Spastic gait property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T14:01:46Z xsd:dateTime created_by: peter [Term] id: HP:0031958 name: Spastic paraparetic gait def: "A type of spastic gait in which the legs are usually slightly bent at the hip and in an adducted position. The knees are extended or slightly bent and the feet are in a plantar flexion position. This posture requires circumduction of the legs during walking. The gait may appear stiff (spastic gait disorder) or stiff as well as insecure (spastic ataxic gait disorder). In spastic paraparetic gait, each leg appears to be dragged forward. If the muscle tone in the adductors is marked, the resulting gait disorder is referred to as scissor gait." [PMID:27770207] is_a: HP:0002064 ! Spastic gait property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T14:02:38Z xsd:dateTime created_by: peter [Term] id: HP:0031959 name: Leg dystonia def: "A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs." [] is_a: HP:0002451 ! Limb dystonia property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T14:23:39Z xsd:dateTime created_by: peter [Term] id: HP:0031960 name: Arm dystonia def: "A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms." [] is_a: HP:0002451 ! Limb dystonia property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T14:24:40Z xsd:dateTime created_by: peter [Term] id: HP:0031961 name: Abnormal serum anion gap def: "Any deviation from the normal value of the serum anion gap, which is calculated from the electrolytes measured in the chemical laboratory, is defined as the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration." [PMID:17699401] comment: The determination of the anion gap is used in the detection and analysis of acid-base disorders, assessment of quality control in the chemical laboratory, and detection of such disorders as multiple myeloma, bromide intoxication, and lithium intoxication. The normal value can vary widely, reflecting both differences in the methods that are used to measure its constituents and substantial interindividual variability. is_a: HP:0004360 ! Abnormality of acid-base homeostasis property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T14:27:01Z xsd:dateTime created_by: peter [Term] id: HP:0031962 name: Elevated serum anion gap def: "An abnormally high value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration)." [PMID:17699401] comment: Elevated values of the serum anion gap most commonly indicate metabolic acidosis but can reflect laboratory error, metabolic alkalosis, hyperphosphatemia, or paraproteinemia. Metabolic acidosis can be divided into high anion and normal anion gap varieties, which can be present alone or concurrently. is_a: HP:0031961 ! Abnormal serum anion gap property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T14:29:56Z xsd:dateTime created_by: peter [Term] id: HP:0031963 name: Decreased serum anion gap def: "An abnormally low value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration)." [PMID:17699401] comment: Low values of the serum anion gap most commonly indicate laboratory error or hypoalbuminemia but can denote the presence of a paraproteinemia or intoxication with lithium, bromide, or iodide. is_a: HP:0031961 ! Abnormal serum anion gap property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T14:31:52Z xsd:dateTime created_by: peter [Term] id: HP:0031964 name: Elevated serum alanine aminotransferase def: "An abnormally high concentration in the circulation of alanine aminotransferase (ALT), which is an enzyme that catalyzes the transfer of amino groups to form the hepatic metabolite oxaloacetate. ALT is found abundantly in the cytosol of the hepatocyte. ALT activity in the liver is about 3000 times that of serum activity. Thus, in the case of hepatocellular injury or death, release of ALT from damaged liver cells increases measured ALT activity in the serum. Although it is generally thought to be specific to the liver, it is also found in the kidney, and, in much smaller quantities, in heart and skeletal muscle cells." [PMID:18366115] synonym: "Alanine aminotransferase increased" EXACT [] synonym: "Elevated serum ALT" EXACT HP:0045077 [] synonym: "Elevated serum glutamic-pyruvic transaminase" EXACT [] is_a: HP:0002910 ! Elevated hepatic transaminase property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T14:37:06Z xsd:dateTime created_by: peter [Term] id: HP:0031965 name: Increased RBC distribution width def: "Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage." [PMID:27867951, PMID:28683798] comment: Although RDW has been traditionally used in the investigation of the etiology of anemia there is an increasing evidence linking elevated RDW with poor outcome in general population [4, 5], in patients with coronary artery disease, with metabolic syndrome and heart failure. synonym: "Increased red blood cell distribution width" EXACT [] is_a: HP:0001877 ! Abnormal erythrocyte morphology property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T14:42:53Z xsd:dateTime created_by: peter [Term] id: HP:0031967 name: Cloudy urine def: "The appearance of the urine having visible material in suspension, i.e., appearing cloudy." [] comment: Cloudy appearance of urine may be related to the presence of bacteria, blood, sperm, crystals, or mucus. synonym: "Turbid urine" RELATED [] is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T23:20:18Z xsd:dateTime created_by: peter [Term] id: HP:0031969 name: Reduced blood urea nitrogen def: "An abnormally low concentration of urea nitrogen in the blood." [] synonym: "Reduced BUN" EXACT HP:0045077 [] is_a: HP:0031970 ! Abnormal blood urea nitrogen concentration property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T23:28:55Z xsd:dateTime created_by: peter [Term] id: HP:0031970 name: Abnormal blood urea nitrogen concentration def: "Any deviation from the normal concentration of urea nitrogen in the blood." [] synonym: "Abnormal BUN concentration" EXACT HP:0045077 [] is_a: HP:0004364 ! Abnormal circulating nitrogen compound concentration property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T23:29:10Z xsd:dateTime created_by: peter [Term] id: HP:0031971 name: Subaortic ventricular septal bulge def: "A localized hypertrophy of the subaortic segment of the ventricular septum has been frequently described in elderly persons, and variously termed subaortic ventricular septal bulge (VSB), sigmoid-shaped septum, localized or discrete upper septal hypertrophy." [ORCID:0000-0001-5835-5515, PMID:25129067, PMID:9203495] comment: Subaortic ventricular septal bulge has been considered mainly as an incidental finding associated with older age and hypertension, although some authors have suggested that it may be part of the spectrum of hypertrophic cardiomyopathy, may determine some degree of left ventricular (LV) obstruction, which in turn may potentially cause symptoms such as syncope and dyspnea on effort. is_a: HP:0011103 ! Abnormal left ventricular outflow tract morphology property_value: http://purl.org/dc/elements/1.1/date 2018-07-07T23:58:07Z xsd:dateTime created_by: peter [Term] id: HP:0031972 name: Presyncope def: "Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause." [ORCID:0000-0001-5835-5515] is_a: HP:0011025 ! Abnormal cardiovascular system physiology property_value: http://purl.org/dc/elements/1.1/date 2018-07-08T00:03:46Z xsd:dateTime created_by: peter [Term] id: HP:0031973 name: Increased vertical cup-to-disc ratio def: "An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc." [UManchester:psergouniotis] comment: Primary open angle glaucoma is causing a progressive optic neuropathy and its development is associated with loss of tissue in the neuroretinal rim of the optic disc and that will lead to increase in the size of the optic cup. Clinical estimation of the size of the cup using either the slit lamb or a simple imaging modalities such as fundus images is a significant clinical parameter and remains the simplest and most frequently performed assessment of the optic disc in the diagnosis and follows up the progression of the glaucoma suspect. The estimation of the size of the cup is usually made by comparison with the size of the disc and given as the ratio of the vertical and horizontal diameter of the cup to the vertical and horizontal diameter. is_a: HP:0012796 ! Increased cup-to-disc ratio property_value: http://purl.org/dc/elements/1.1/date 2018-07-08T00:08:21Z xsd:dateTime created_by: peter [Term] id: HP:0031974 name: Increased vertical cup-to-disc ratio - 0.6 def: "Ratio of the height of the cup of the optic nerve head to the height of the disc (The normal cup-to-disc ratio is 0.3)." [UManchester:psergouniotis] is_a: HP:0031973 ! Increased vertical cup-to-disc ratio property_value: http://purl.org/dc/elements/1.1/date 2018-07-08T00:13:08Z xsd:dateTime created_by: peter [Term] id: HP:0031975 name: Increased vertical cup-to-disc ratio - 0.7 def: "Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3)." [UManchester:psergouniotis] is_a: HP:0031973 ! Increased vertical cup-to-disc ratio property_value: http://purl.org/dc/elements/1.1/date 2018-07-08T00:15:02Z xsd:dateTime created_by: peter [Term] id: HP:0031976 name: Increased vertical cup-to-disc ratio - 0.8 def: "Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3)." [UManchester:psergouniotis] is_a: HP:0031973 ! Increased vertical cup-to-disc ratio property_value: http://purl.org/dc/elements/1.1/date 2018-07-08T00:15:07Z xsd:dateTime created_by: peter [Term] id: HP:0031977 name: Increased vertical cup-to-disc ratio - 0.9 def: "Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3)." [UManchester:psergouniotis] is_a: HP:0031973 ! Increased vertical cup-to-disc ratio property_value: http://purl.org/dc/elements/1.1/date 2018-07-08T00:15:12Z xsd:dateTime created_by: peter [Term] id: HP:0031978 name: Increased vertical cup-to-disc ratio - 1.0 def: "Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3)." [UManchester:psergouniotis] is_a: HP:0031973 ! Increased vertical cup-to-disc ratio property_value: http://purl.org/dc/elements/1.1/date 2018-07-08T00:15:23Z xsd:dateTime created_by: peter [Term] id: HP:0031979 name: Abnormal urine carbohydrate level def: "Any deviation from the normal concentration of a carbohydrate in the urine." [] comment: Carbohydrates, also known as saccharides, comprise mono-, d-, and oligosaccharides (substances from endogenous metabolism or from exogenous sources such as diet). Most saccharides except glucose are readily excreted in the urine, reflecting dieteray consuption. Increased sacchardie levels may indicate an enzyme defect or other disease if a certain type of saccharide or a certain profile is found. is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: http://purl.org/dc/elements/1.1/date 2018-07-08T12:53:24Z xsd:dateTime created_by: peter [Term] id: HP:0031980 name: Abnormal urine carboxylic acid level def: "Any deviation from the normal concentration of a carboxylic acid in the urine." [] comment: Carboxylic acid refers to an organic compound that contains a carboxyl group (-COOH). is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: http://purl.org/dc/elements/1.1/date 2018-07-08T13:01:16Z xsd:dateTime created_by: peter [Term] id: HP:0031981 name: Elevated urine glycolate def: "An increased concentration of glycolate in the urine." [PMID:2031609] comment: Primary hyperoxaluria type 1 is an inborn error of glyoxalate metabolism characterized by excessive production and urinary excretion of oxalate and glycolate. is_a: HP:0031980 ! Abnormal urine carboxylic acid level property_value: http://purl.org/dc/elements/1.1/date 2018-07-08T13:03:26Z xsd:dateTime created_by: peter [Term] id: HP:0031982 name: Abnormal putamen morphology def: "Any structural anomaly of the putamen, a brain nucleus which together with the caudate nucleus and fundus striati makes up the striatum." [] is_a: HP:0010994 ! Abnormal corpus striatum morphology property_value: http://purl.org/dc/elements/1.1/date 2018-07-08T13:26:57Z xsd:dateTime created_by: peter [Term] id: HP:0031983 name: Abnormal pulmonary thoracic imaging finding def: "This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density." [] synonym: "Abnormal chest radiograph finding (lung)" EXACT [] is_a: HP:0002088 ! Abnormal lung morphology property_value: http://purl.org/dc/elements/1.1/date 2018-07-08T13:38:01Z xsd:dateTime created_by: peter [Term] id: HP:0031984 name: Esophageal food impaction def: "A piece of food that has gotten stuck in the esophagus and prevents further swallowing." [PMID:21960934] comment: Although any type of food can become stuck in the esophagus, in the adult population, structural diseases or abnormalities of the esophagus, specifically eosinophilic esophagitis, are the main causes of food impactions. Eosinophilic esophagitis causes solid food to become stuck in the esophagus intermittently. is_a: HP:0002031 ! Abnormal esophagus morphology property_value: http://purl.org/dc/elements/1.1/date 2018-07-08T14:55:36Z xsd:dateTime created_by: peter [Term] id: HP:0031985 name: Esophageal exudate def: "An exudate is a mass of fluid and cells that has seeped out of blood vessels or an organ, usually related to inflammation. In the esophagus, exudates usually present as whitish plagues on the surface of the esophageal mucosa." [PMID:22919257] is_a: HP:0002031 ! Abnormal esophagus morphology property_value: http://purl.org/dc/elements/1.1/date 2018-07-08T14:58:59Z xsd:dateTime created_by: peter [Term] id: HP:0031986 name: Polyminimyoclonus def: "Irregular, small-amplitude myoclonic movements of the hands and/or fingers on keeping outstretched posture (jerky postural tremor). Polyminimyoclonus is stimulus-sensitive and accentuated during voluntary movements. A cortical origin can be demonstrated by back-averaging techniques, and somatosensory evoked potentials (SSEPs) are sometimes giant." [PMID:21339907] is_a: HP:0001336 ! Myoclonus property_value: http://purl.org/dc/elements/1.1/date 2018-07-09T01:38:21Z xsd:dateTime created_by: peter [Term] id: HP:0031987 name: Diminished ability to concentrate def: "Being unable to focus one's attention or mental effort on a particular object or activity." [] synonym: "Lack of concentration" EXACT [] synonym: "Poor concentration" EXACT layperson [] is_a: HP:0000708 ! Behavioral abnormality property_value: http://purl.org/dc/elements/1.1/date 2018-07-09T01:48:46Z xsd:dateTime created_by: peter [Term] id: HP:0031988 name: obsolete Muscle spasm is_obsolete: true replaced_by: HP:0003394 [Term] id: HP:0031989 name: Perioral spasm def: "A sudden involuntary contraction of the musculature surrounding the mouth." [] is_a: HP:0003394 ! Muscle spasm property_value: http://purl.org/dc/elements/1.1/date 2018-07-09T14:40:12Z xsd:dateTime created_by: peter [Term] id: HP:0031990 name: Chvostek sign def: "A contraction of ipsilateral facial muscles subsequent to percussion over the facial nerve." [PMID:22970971, PMID:29443134] comment: The Chvostek sign is considered to be a clinical indicator of hypocalcemia. is_a: HP:0004305 ! Involuntary movements property_value: http://purl.org/dc/elements/1.1/date 2018-07-09T14:41:30Z xsd:dateTime created_by: peter [Term] id: HP:0031991 name: Increased urinary excretion of galactosyl hydroxylysine def: "An increased concentration of beta-1-galactosyl-O-hydroxylysine (Gal-Hyl) in the urine. This is a biochemical marker of bone resorption." [PMID:10222355] is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: http://purl.org/dc/elements/1.1/date 2018-07-09T15:24:43Z xsd:dateTime created_by: peter [Term] id: HP:0031992 name: Apical hypertrophic cardiomyopathy def: "Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity." [ORCID:0000-0001-5835-5515, PMID:23109785, PMID:8685759] is_a: HP:0001639 ! Hypertrophic cardiomyopathy property_value: http://purl.org/dc/elements/1.1/date 2018-07-09T15:40:34Z xsd:dateTime created_by: peter [Term] id: HP:0031993 name: Hoffmann sign def: "A Hoffman test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test." [PMID:11813951, PMID:20229121] comment: The Hoffmann sign is regarded to be test for disease of the corticospinal pathways. is_a: HP:0007256 ! Abnormal pyramidal sign property_value: http://purl.org/dc/elements/1.1/date 2018-07-15T18:58:09Z xsd:dateTime created_by: peter [Term] id: HP:0031994 name: Bronchial breath sound def: "Bronchial breath sounds contain much higher frequency components than normal breath sounds due to alteration of the low pass filtering function of the alveoli, as occurs in consolidation. It is loud, hollow, and high pitch. Expiratory phase is longer than inspiratory phase with the inspiratory-expiratory ratio (I:E) changing from normal 3:1 to 1:2. There is distinct pause between inspiration and expiration due to absent alveolar phase. It is associated with whispering pectoriloquy." [PMID:26229557] is_a: HP:0030829 ! Abnormal breath sound property_value: http://purl.org/dc/elements/1.1/date 2018-07-15T19:45:30Z xsd:dateTime created_by: peter [Term] id: HP:0031995 name: Squawks def: "Squawks are short inspiratory wheezes of less than 200 msduration and are also known as squeaks. Acoustic analysis shows the fundamental frequency varying between 200 and 300 Hz. Squawks usually occur in late inspiration and areoften preceded by late inspiratory crackles." [PMID:26229557] comment: Squawks are found in pulmonary fibrosis of various causes, particularly in hypersensitivity pneumonitis. Other causes are detected in pneumonia and bronchiolitis obliterans. is_a: HP:0030828 ! Wheezing property_value: http://purl.org/dc/elements/1.1/date 2018-07-15T19:48:18Z xsd:dateTime created_by: peter [Term] id: HP:0031996 name: Inspiratory crackles def: "Crackles that are heard during the inspiratory phase." [PMID:26229557] is_a: HP:0030830 ! Crackles property_value: http://purl.org/dc/elements/1.1/date 2018-07-15T21:46:52Z xsd:dateTime created_by: peter [Term] id: HP:0031997 name: Early inspiratory crackles def: "Crackles that appear at the beginning of inspiration and end before mid-inspiration." [PMID:26229557] comment: Early inspiratory crackles may be observed, for example, in chronic obstructive pulmonary disease (COPD). Crackles in COPD patients are scanty, gravity-independent, usually audible at the mouth, and strongly associated with severe airway obstruction. Crackles start early in inspiration and usually end before the midpoint of inspiration. is_a: HP:0031996 ! Inspiratory crackles property_value: http://purl.org/dc/elements/1.1/date 2018-07-15T21:47:37Z xsd:dateTime created_by: peter [Term] id: HP:0031998 name: Late inspiratory crackles def: "Crackles that appear any time after the beginning of inspiration and last till the end of inspiration." [PMID:26229557] comment: Late inspiratory crackles may be observed, for example, in diffuse parenchymal lung disease (DPLD). Crackles are commonly seen in patients with IPF/usual interstitial pneumonia (UIP), asbestosis, and desquamative interstitial pneumonia (DIP). is_a: HP:0031996 ! Inspiratory crackles property_value: http://purl.org/dc/elements/1.1/date 2018-07-15T21:49:08Z xsd:dateTime created_by: peter [Term] id: HP:0031999 name: Expiratory crackles def: "Crackles that occur during expiration." [PMID:26229557] comment: Crackles are predominantly inspiratory in nature, but can also occur during expiration. It has been described in COPD, bronchiectasis, and IPF. One theory of the pathogenesis of expritory crackles states that some airways collapse during early expiration and air trapping develops. As expiration progresses, the pressure in the trapped region gradually increase, leading to a widened pressure difference across the airways. Once this pressure difference reaches the critical opening pressure, the airway pops open during expiration, producing crackles. is_a: HP:0030830 ! Crackles property_value: http://purl.org/dc/elements/1.1/date 2018-07-15T21:50:28Z xsd:dateTime created_by: peter [Term] id: HP:0032000 name: Pleural rub def: "An abnormal breath sound that is nonmusical, short and explosive. It is grating, rubbing, creaky, or leathery in character and present in both phases of respiration. Typically the expiratory component mirrors the inspiratory component. It occurs due to inflamed pleural surface rubbing each other during breathing. Clinically, it is important to differentiate it from crackles" [PMID:26229557] is_a: HP:0030829 ! Abnormal breath sound property_value: http://purl.org/dc/elements/1.1/date 2018-07-15T21:53:13Z xsd:dateTime created_by: peter [Term] id: HP:0032001 name: Pink urine def: "An abnormal pink color of urine." [] comment: Pink urine color may indicate blood or be a consequence of the ingestion of certain food such as beets, blackberries and rhubarb. is_a: HP:0012086 ! Abnormal urinary color property_value: http://purl.org/dc/elements/1.1/date 2018-07-15T21:57:17Z xsd:dateTime created_by: peter [Term] id: HP:0032002 name: Orange urine def: "An abnormal orange color of urine." [PMID:18613989, PMID:29967083] is_a: HP:0012086 ! Abnormal urinary color property_value: http://purl.org/dc/elements/1.1/date 2018-07-15T21:59:12Z xsd:dateTime created_by: peter [Term] id: HP:0032003 name: Green urine def: "An abnormal green color of urine." [PMID:28413291] is_a: HP:0012086 ! Abnormal urinary color property_value: http://purl.org/dc/elements/1.1/date 2018-07-15T22:05:52Z xsd:dateTime created_by: peter [Term] id: HP:0032004 name: Pruritus vulvae def: "A sensation of itching in the vulvar region." [] is_a: HP:0000989 ! Pruritus property_value: http://purl.org/dc/elements/1.1/date 2018-07-15T22:20:09Z xsd:dateTime created_by: peter [Term] id: HP:0032005 name: Hemidystonia def: "Hemidystonia refers to dystonia which involves the ipsilateral face, arm, and leg." [PMID:11784827, PMID:4031909] comment: In most cases of hemidystonia, a contralateral structural lesion of the basal ganglia or thalamus can be demonstrated by neuroimaging. Common aetiologies include stroke and trauma, and younger patients seem to have a greater propensity to develop hemidystonia after cerebral insults. There is often a latency between cerebral injury and the onset of dystonia. Hemidystonia may be preceded by ipsilateral hemiparesis which often resolves as hemidystonia develops. is_a: HP:0001332 ! Dystonia property_value: http://purl.org/dc/elements/1.1/date 2018-07-17T12:51:59Z xsd:dateTime created_by: peter [Term] id: HP:0032006 name: Lip tremor def: "An unintentional, oscillating to-and-fro muscle movement affecting the lip." [] is_a: HP:0030188 ! Tremor by anatomical site property_value: http://purl.org/dc/elements/1.1/date 2018-07-17T13:06:59Z xsd:dateTime created_by: peter [Term] id: HP:0032007 name: Maceration def: "A softening and breaking down of skin resulting from prolonged exposure to moisture. Macerated skin becomes soft and wrinkly and takes on a whitish hue." [PMID:12192848] synonym: "Maceration of the skin" EXACT [] synonym: "Skin maceration" EXACT [] is_a: HP:0011121 ! Abnormality of skin morphology property_value: http://purl.org/dc/elements/1.1/date 2018-07-17T13:09:36Z xsd:dateTime created_by: peter [Term] id: HP:0032008 name: Pulmonary fat embolism def: "The release of fat globules into the venous circulation, thereby blocking blood circulation to the lung." [ORCID:0000-0001-5208-3432, PMID:24468004] synonym: "Fat embolism" EXACT [] is_a: HP:0002204 ! Pulmonary embolism property_value: http://purl.org/dc/elements/1.1/date 2018-07-17T13:39:35Z xsd:dateTime created_by: peter [Term] id: HP:0032009 name: Infantile constant exotropia def: "Constant exotropia occurring before 6 months of age.; often associated with a large angle of deviation and ocular/CNS abnormalities." [UManchester:psergouniotis] comment: Typically infantile constant exotropia suggests presentation at 6 months of age or younger, while basic constant exotropia suggests later presentation (older than 6-12 months). (OHO 745 & 750). synonym: "Infantile (constant) exotropia" EXACT [] is_a: HP:0031713 ! Constant exotropia property_value: http://purl.org/dc/elements/1.1/date 2018-07-22T15:37:33Z xsd:dateTime created_by: peter [Term] id: HP:0032010 name: Basic constant exotropia def: "Constant exotropia for near and distance, presenting after 6 months of age." [UManchester:psergouniotis] comment: Typically infantile constant exotropia suggests presentation at 6 months of age or younger, while basic constant exotropia suggests later presentation (older than 6-12 months). (OHO 745 & 750). synonym: "Basic (constant) exotropia" EXACT [] is_a: HP:0031713 ! Constant exotropia property_value: http://purl.org/dc/elements/1.1/date 2018-07-22T15:39:30Z xsd:dateTime created_by: peter [Term] id: HP:0032011 name: Heterophoria def: "Heterophorias are latent deviations that are controlled by fusion. In certain circumstances (specific visual tasks, fatigue, illness, etc.), fusion can no longer be maintained and decompensation occurs." [] comment: In contrast to heterophoria, heterotropias are manifest deviations. Some individuals may be phoric in one situation (e.g. for distance) and tropic in another (e.g. for near). The distinction between heterotropia and heterophoria is that heterotropia refers to a misalignment of the eyes when the affected individual is looking at an object while the eyes are uncovered whereas heterophoria is a misalignment that is observed only when the two eyes are no longer looking at the same object. The monocular cover-uncover test is the most important test for detecting the presence of manifest strabismus and for differentiating a heterophoria from a heterotropia. is_a: HP:0000486 ! Strabismus property_value: http://purl.org/dc/elements/1.1/date 2018-07-22T15:44:43Z xsd:dateTime created_by: peter [Term] id: HP:0032012 name: Heterotropia def: "Manifest deviation of the visual axes not controlled by fusion." [UManchester:psergouniotis] comment: The distinction between heterotropia and heterophoria is that heterotropia refers to a misalignment of the eyes when the affected individual is looking at an object while the eyes are uncovered whereas heterophoria is a misalignment that is observed only when the two eyes are no longer looking at the same object. The monocular cover-uncover test is the most important test for detecting the presence of manifest strabismus and for differentiating a heterophoria from a heterotropia. is_a: HP:0000486 ! Strabismus property_value: http://purl.org/dc/elements/1.1/date 2018-07-22T15:46:55Z xsd:dateTime created_by: peter [Term] id: HP:0032013 name: Hypermetric horizontal saccades def: "Overshoot of horizontal (sideways) saccadic eye movements." [] is_a: HP:0007338 ! Hypermetric saccades property_value: http://purl.org/dc/elements/1.1/date 2018-07-22T16:28:02Z xsd:dateTime created_by: peter [Term] id: HP:0032014 name: Dysmetric vertical saccades def: "Inaccurate saccades (rapid movement of the eye between fixation points) in the vertical direction." [UManchester:psergouniotis] is_a: HP:0000641 ! Dysmetric saccades property_value: http://purl.org/dc/elements/1.1/date 2018-07-22T16:29:12Z xsd:dateTime created_by: peter [Term] id: HP:0032015 name: Dysmetric horizontal saccades def: "Inaccurate saccades (rapid movement of the eye between fixation points) in the horizontal direction." [UManchester:psergouniotis] is_a: HP:0000641 ! Dysmetric saccades property_value: http://purl.org/dc/elements/1.1/date 2018-07-22T16:33:04Z xsd:dateTime created_by: peter [Term] id: HP:0032016 name: Abnormal sputum def: "Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin." [] synonym: "Abnormal sputum morphology" EXACT [] is_a: HP:0012252 ! Abnormal respiratory system morphology property_value: http://purl.org/dc/elements/1.1/date 2018-08-25T12:36:36Z xsd:dateTime created_by: peter [Term] id: HP:0032017 name: Sputum eosinophilia def: "An increased proportion of eosinophils in sputum in the differentiated cell count." [HPO:probinson, PMID:23741092, PMID:29146301] comment: Sputum eosinophilia can be measured in various ways including measuing the mean percentage of eosinophils in the cell count of sputum induced by application of saline. The threshold chosen differs between studies, typically ranging from 1.25 to 3 percent. Increased sputum eosinophil counts may indicate a risk for severe chronic obstructive pulmonary disease or severe asthma. is_a: HP:0032016 ! Abnormal sputum property_value: http://purl.org/dc/elements/1.1/date 2018-08-25T12:39:58Z xsd:dateTime created_by: peter [Term] id: HP:0032018 name: Multiple mononeuropathy def: "A type of peripheral neuropathy that happens when there is damage to two or more different nerve areas characterized by peripheral neuropathy of both the motor and sensory nerves of at least two different nerve trunks. Different nerves are affected either simultaneously or sequentially." [HPO:probinson, PMID:25494723] comment: Mononeuritis multiplex can be a manifestation of several disorders including infectious, inflammatory, neoplastic, toxic, metabolic and hereditary conditions. synonym: "Mononeuritis multiplex" EXACT [] is_a: HP:0009830 ! Peripheral neuropathy property_value: http://purl.org/dc/elements/1.1/date 2018-08-25T15:36:22Z xsd:dateTime created_by: peter [Term] id: HP:0032019 name: Muscle eosinophilia def: "Eosinophil infiltration of skeletal muscle." [HPO:probinson, PMID:24424174, PMID:24803842] comment: This phenotype can be measured by determining the number and location of eosinophils in skeletal muscle biopsies by Giemsa and modified hematoxylin/eosin staining. However, infiltrating eosinophils are not always identified in conventional muscle histologic examination, but the eosinophil major basic protein, whose extracellular diffusion is considered a hallmark of eosinophilic cytotoxicity, is usually detected by immunostaining in muscle biopsy. synonym: "Eosinophilic infiltration of skeletal muscle" EXACT [] is_a: HP:0011805 ! Abnormal muscle morphology property_value: http://purl.org/dc/elements/1.1/date 2018-08-25T15:42:46Z xsd:dateTime created_by: peter [Term] id: HP:0032020 name: Eosinophilic bladder infiltration def: "Transmural inflammation of the bladder predominantly with eosinophils, associated with fibrosis with or without muscle necrosis." [PMID:15857336, PMID:28829677] synonym: "Eosinophilic cystitis" EXACT [] is_a: HP:0025487 ! Abnormality of bladder morphology property_value: http://purl.org/dc/elements/1.1/date 2018-08-25T15:48:26Z xsd:dateTime created_by: peter [Term] id: HP:0032021 name: Eosinophilic liver infiltration def: "Cellular infiltration of the liver parenchyma with a preponderance of eosinophils." [HPO:probinson, PMID:20457690, PMID:7835024] synonym: "Eosinophilic hepatitis" RELATED [] is_a: HP:0030146 ! Abnormal liver parenchyma morphology is_a: HP:0032064 ! Gastrointestinal eosinophilia property_value: http://purl.org/dc/elements/1.1/date 2018-08-25T15:51:03Z xsd:dateTime created_by: peter [Term] id: HP:0032022 name: Eosinophilic dermal infiltration def: "Presence of abnormally increased amounts of intraepidermal inflammatory cells with a predominance of eosinophils." [PMID:23730155, PMID:6724778] synonym: "Eosinophilic dermatitis" EXACT [] is_a: HP:0011123 ! Inflammatory abnormality of the skin property_value: http://purl.org/dc/elements/1.1/date 2018-09-01T13:38:35Z xsd:dateTime created_by: peter [Term] id: HP:0032023 name: Eosinophilic gallbladder infiltration def: "Cellular infiltrate confirmed by a cellular infiltrate comprised of mainly eosinophils in the gallbladder wall on histological examination." [PMID:27872806] synonym: "Eosinophilic cholecystitis" EXACT [] is_a: HP:0012437 ! Abnormal gallbladder morphology is_a: HP:0032064 ! Gastrointestinal eosinophilia property_value: http://purl.org/dc/elements/1.1/date 2018-09-01T13:49:40Z xsd:dateTime created_by: peter [Term] id: HP:0032024 name: Ileal ulcer def: "An erosion of the mucous membrane of in a portion of the ileum." [PMID:28670609] is_a: HP:0001549 ! Abnormal ileum morphology property_value: http://purl.org/dc/elements/1.1/date 2018-09-01T14:06:31Z xsd:dateTime created_by: peter [Term] id: HP:0032025 name: Reduced serum alpha-1-antitrypsin def: "A reduced concentration of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs." [PMID:24507836] is_a: HP:0010876 ! Abnormal circulating protein level property_value: http://purl.org/dc/elements/1.1/date 2018-09-01T14:16:39Z xsd:dateTime created_by: peter [Term] id: HP:0032026 name: Anetoderma def: "Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis." [PMID:20652064, PMID:28116317] comment: Anetoderma is a skin disorder characterized by focal loss of dermal elastic tissue. Clinically, it can present as various types of flaccid skin, such as protruding (raised), indented (depressed), or flat. is_a: HP:0011355 ! Localized skin lesion property_value: http://purl.org/dc/elements/1.1/date 2018-09-01T14:38:17Z xsd:dateTime created_by: peter [Term] id: HP:0032027 name: Retinal dots def: "Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size." [UManchester:psergouniotis] is_a: HP:0030506 ! Yellow/white lesions of the retina property_value: http://purl.org/dc/elements/1.1/date 2018-09-01T14:43:45Z xsd:dateTime created_by: peter [Term] id: HP:0032028 name: Macular dots def: "Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size." [UManchester:psergouniotis] is_a: HP:0030500 ! Yellow/white lesions of the macula property_value: http://purl.org/dc/elements/1.1/date 2018-09-01T14:44:49Z xsd:dateTime created_by: peter [Term] id: HP:0032029 name: Floppy eyelid def: "Excessive eyelid tissue laxity, typically affecting both upper eyelids and associated with spontanteous tarsal eversion during sleep. It is more common in the obese, it may be associated with obstructive sleep apnea and it may result in corneal exposure or chronic papillary conjunctivitis." [PMID:26139650, UManchester:psergouniotis] is_a: HP:0031880 ! Eyelid laxity property_value: http://purl.org/dc/elements/1.1/date 2018-09-01T14:47:22Z xsd:dateTime created_by: peter [Term] id: HP:0032030 name: Lateral canthal tendon laxity def: "Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed." [UManchester:psergouniotis] is_a: HP:0031880 ! Eyelid laxity property_value: http://purl.org/dc/elements/1.1/date 2018-09-01T14:49:57Z xsd:dateTime created_by: peter [Term] id: HP:0032031 name: Medial canthal tendon laxity def: "Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally." [UManchester:psergouniotis] is_a: HP:0031880 ! Eyelid laxity property_value: http://purl.org/dc/elements/1.1/date 2018-09-01T14:50:46Z xsd:dateTime created_by: peter [Term] id: HP:0032032 name: Horizontal eyelid laxity def: "Abnormally lax eyelid associated with tissue relaxation, predominantly in the horizontal plane. It can be demonstrated by the horizontal eyelid distruction test (e.g. by pulling the eyelid medially and laterally). Medial and/or lateral canthal tendon laxity are often present." [UManchester:psergouniotis] is_a: HP:0031880 ! Eyelid laxity property_value: http://purl.org/dc/elements/1.1/date 2018-09-01T14:51:32Z xsd:dateTime created_by: peter [Term] id: HP:0032033 name: Vertical eyelid laxity def: "Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present." [UManchester:psergouniotis] is_a: HP:0031880 ! Eyelid laxity property_value: http://purl.org/dc/elements/1.1/date 2018-09-01T14:52:17Z xsd:dateTime created_by: peter [Term] id: HP:0032034 name: Upper eyelid laxity def: "Abnormally lax upper eyelid associated with tissue relaxation." [UManchester:psergouniotis] is_a: HP:0031880 ! Eyelid laxity property_value: http://purl.org/dc/elements/1.1/date 2018-09-01T14:52:53Z xsd:dateTime created_by: peter [Term] id: HP:0032035 name: Lower eyelid laxity def: "Abnormally lax lower eyelid associated with tissue relaxation." [UManchester:psergouniotis] is_a: HP:0031880 ! Eyelid laxity property_value: http://purl.org/dc/elements/1.1/date 2018-09-01T14:53:46Z xsd:dateTime created_by: peter [Term] id: HP:0032036 name: Abnormal contrast sensitivity def: "An abnormality in perception of contrast. Spatial contrast is a physical dimension referring to the light-dark transition of a border or an edge in an image that delineates the existence of a pattern or an object. Contrast sensitivity refers to a measure of how much contrast a person requires to see a target. Contrast-sensitivity measurements differ from acuity measurements; acuity is a measure of the spatial-resolving ability of the visual system under conditions of very high contrast, whereas contrast sensitivity is a measure of the threshold contrast fur seeing a target." [PMID:12809156, UManchester:psergouniotis] is_a: HP:0000504 ! Abnormality of vision property_value: http://purl.org/dc/elements/1.1/date 2018-09-01T15:21:51Z xsd:dateTime created_by: peter [Term] id: HP:0032037 name: Mildly reduced visual acuity def: "Mild reduction of the ability to see defined as visual acuity less than 6/12 (20/40 in US notation; 0.5 in decimal notation) but at least 6/18 (20/63 in US notation; 0.32 in decimal notation)." [] comment: A visual acuity of 6/6 signifies that a person can see symbols such as those on a Snellen chart from six meters the same as a person with normal eyesight. A visual acuity of 6/12 signifies that the person can see symbols at 6 meters the same as a person with normal eyesight could at 12 meters. synonym: "Mild reduction in visual acuity" EXACT [] synonym: "Mild vision loss" EXACT [] synonym: "Mild visual loss" EXACT [] is_a: HP:0007663 ! Reduced visual acuity property_value: http://purl.org/dc/elements/1.1/date 2018-09-01T15:45:56Z xsd:dateTime created_by: peter [Term] id: HP:0032039 name: Abnormality of the ocular adnexa def: "An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva." [] is_a: HP:0000315 ! Abnormality of the orbital region property_value: http://purl.org/dc/elements/1.1/date 2018-09-03T00:17:49Z xsd:dateTime created_by: peter [Term] id: HP:0032040 name: Abnormal ocular adnexa physiology def: "A functional anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva." [] is_a: HP:0032039 ! Abnormality of the ocular adnexa property_value: http://purl.org/dc/elements/1.1/date 2018-09-03T00:18:45Z xsd:dateTime created_by: peter [Term] id: HP:0032041 name: Vocal cord polyp def: "A small growth on a vocal cord that may appear as pedunculated or sessile and have varying size, shape, and color." [PMID:26628451, PMID:29749984] comment: In severe conditions, polyps turn hemorrhagic and emerge as blood blisters on vocal cords. This occurs when collision forces, generated during the oscillatory cycle of phonation, cause microtrauma within the basement membrane of epithelium and the superficial layer of the lamina propria. Consequently, oscillation of vocal folds leads to neovascularization and hemorrhagic events within the damaged tissue. Depending on the size, position, and type of polyps, abnormal voice qualities including hoarseness, harshness, and breathiness would be different. The size of polyps varies from small to large masses, and a criterion to distinguish polyps from nodules is defined as mass bigger than 0.3 mm whereby bigger masses could be classified as polyps. is_a: HP:0008777 ! Abnormal vocal cord morphology property_value: http://purl.org/dc/elements/1.1/date 2018-09-08T01:50:44Z xsd:dateTime created_by: peter [Term] id: HP:0032043 name: Odynophagia def: "Pain experienced with swallowing." [] synonym: "Painful swallowing" EXACT layperson [] is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T10:35:02Z xsd:dateTime created_by: peter [Term] id: HP:0032044 name: Decreased vigilance def: "A reduction in the ability to maintain sustained attention characterized by reduced altertness." [PMID:16581292] is_a: HP:0004372 ! Reduced consciousness/confusion property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T10:41:34Z xsd:dateTime created_by: peter [Term] id: HP:0032045 name: Hypoplastic carotid canal def: "Underdevelopment of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse." [] is_a: HP:0009911 ! Abnormal temporal bone morphology property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T10:47:06Z xsd:dateTime created_by: peter [Term] id: HP:0032046 name: Focal cortical dysplasia def: "A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons." [PMID:12707084] synonym: "Focal cortical dysplasia is one of the most common entities associated with refractory epilepsy, especially in childhood." EXACT [] is_a: HP:0002539 ! Cortical dysplasia property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T10:55:37Z xsd:dateTime created_by: peter [Term] id: HP:0032047 name: Focal cortical dysplasia type I def: "A type of focal cortical dysplasia that is characterized by abnormal cortical layering." [COST:neuromig, PMID:21219302] is_a: HP:0032046 ! Focal cortical dysplasia property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T11:00:11Z xsd:dateTime created_by: peter [Term] id: HP:0032048 name: Focal cortical dysplasia type Ia def: "A subtype of focal cortical dysplasia type I that is characterized by abnormal radial cortical lamination." [COST:neuromig, PMID:21219302] is_a: HP:0032047 ! Focal cortical dysplasia type I property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T11:03:23Z xsd:dateTime created_by: peter [Term] id: HP:0032049 name: Focal cortical dysplasia type Ib def: "A subtype of focal cortical dysplasia type I that is characterized by abnormal tangential cortical lamination." [COST:neuromig, PMID:21219302] is_a: HP:0032047 ! Focal cortical dysplasia type I property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T11:05:32Z xsd:dateTime created_by: peter [Term] id: HP:0032050 name: Focal cortical dysplasia type Ic def: "A subtype of focal cortical dysplasia type I that is characterized by abnormal radial and tangential cortical lamination." [COST:neuromig, PMID:21219302] is_a: HP:0032049 ! Focal cortical dysplasia type Ib property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T11:06:34Z xsd:dateTime created_by: peter [Term] id: HP:0032051 name: Focal cortical dysplasia type II def: "A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities." [COST:neuromig, PMID:21219302] is_a: HP:0032046 ! Focal cortical dysplasia property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T11:09:13Z xsd:dateTime created_by: peter [Term] id: HP:0032052 name: Focal cortical dysplasia type IIa def: "A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins." [COST:neuromig, PMID:21219302] comment: There are no balloon cells present (to be confirmed by immunohistochemistry). Discrimination of individual cortical layers is almost impossible (with the exception of Layer 1). Other cortical layer abnormalities are frequently encountered and should not be separately classified, including abnormal isocortical layer organization adjacent to the main lesion, as well as heterotopic neurons in Layer 1 or white matter. is_a: HP:0032051 ! Focal cortical dysplasia type II property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T11:11:20Z xsd:dateTime created_by: peter [Term] id: HP:0032053 name: Focal cortical dysplasia type IIb def: "A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons (significantly enlarged with accumulation of neurofilament proteins) and balloon cells." [COST:neuromig, PMID:21219302] comment: Cortical lamination is frequently disrupted with the exception of Layer 1. The myelin content may also be altered in underlying subcortical white matter. Other cortical layer abnormalities are frequently encountered and should not be separately classified, including abnormal isocortical layer organization adjacent to the main lesion, as well as heterotopic neurons in Layer 1 or white matter. Histopathologically similar lesions are observed in cortical tubers and other gross MCDs, i.e. hemimegalencephaly or schizencephaly. is_a: HP:0032051 ! Focal cortical dysplasia type II property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T11:12:48Z xsd:dateTime created_by: peter [Term] id: HP:0032054 name: Focal cortical dysplasia type III def: "A type of focal cortical dysplasia that is characterized by cortical lamination abnormalities associated with a principal lesion, usually adjacent to or affecting the same cortical area/lobe." [COST:neuromig, PMID:21219302] is_a: HP:0032046 ! Focal cortical dysplasia property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T11:15:25Z xsd:dateTime created_by: peter [Term] id: HP:0032055 name: Focal cortical dysplasia type IIIa def: "A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (HS, syn. Ammon's horn sclerosis)." [COST:neuromig, PMID:21219302] is_a: HP:0032054 ! Focal cortical dysplasia type III property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T11:16:43Z xsd:dateTime created_by: peter [Term] id: HP:0032056 name: Focal cortical dysplasia type IIIb def: "A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) and/or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to glial or glioneuronal tumor." [COST:neuromig, PMID:21219302] comment: This type of focal cortical dysplasia is associated with glial or glioneuronal tumors (Ganglioglioma, Dysembryoplastic Neuroepithelial Tumor (DNT, syn. DNET) or other epilepsy-associated neoplasms. It is important to exclude tumor infiltration in areas of cortical abnormalities before establishing the diagnosis of FCD. The etiology and pathogenesis of FCD Type IIIb remains to be determined, but is likely an acquired process. is_a: HP:0032054 ! Focal cortical dysplasia type III property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T11:18:31Z xsd:dateTime created_by: peter [Term] id: HP:0032057 name: Focal cortical dysplasia type IIIc def: "A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural (cortical dyslamination, hypoplasia) or cytoarchitectural composition of the neocortex (hypertrophic neurons), which occur adjacent to vascular malformations (cavernomas, arteriovenous malformations, leptomeningeal vascular malformations, telangiectasias, meningioangiomatosis)." [COST:neuromig, PMID:21219302] is_a: HP:0032054 ! Focal cortical dysplasia type III property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T11:23:39Z xsd:dateTime created_by: peter [Term] id: HP:0032058 name: Focal cortical dysplasia type IIId def: "A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to other lesions acquired during early life (not included into FCD Type IIIa-c). These lesions comprise a large spectrum including traumatic brain injury, glial scarring after prenatal or perinatal ischemic injury or bleeding, and inflammatory or infectious diseases, i.e. Rasmussen encephalitis, limbic encephalitis, bacterial or viral infections." [COST:neuromig, PMID:21219302] is_a: HP:0032054 ! Focal cortical dysplasia type III property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T11:25:19Z xsd:dateTime created_by: peter [Term] id: HP:0032059 name: Mild malformation of cortical development def: "A malformation of cortical development characterized by mild abnormalities of the cortex: excessive heterotopic neurons in Layer 1 or microscopic neuronal clusters or excess of single neurons of normal morphology in deep white matter." [COST:neuromig, PMID:21219302] is_a: HP:0002539 ! Cortical dysplasia property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T11:35:14Z xsd:dateTime created_by: peter [Term] id: HP:0032060 name: Epithelioid hemangioma def: "A benign neoplasm that includes blood vessel proliferation and a dense eosinophilic inflammatory infiltrate, manifesting as flesh/plum-colored pruritic nodules and papules, most commonly affecting the ear and the periauricular area." [NCIT:C4298, PMID:25484503, PMID:25927152] comment: Epithelioid hemangioma is most common in middle-aged adults. synonym: "Angiolymphoid hyperplasia with eosinophilia" EXACT [] is_a: HP:0001028 ! Hemangioma property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T11:50:05Z xsd:dateTime created_by: peter [Term] id: HP:0032061 name: Hypereosinophilia def: "A severely increased count of eosinophils in the blood defined as a blood eosinophil count of 1.5 × 10e9/L or greater (one and a half billion cells per liter)." [PMID:20538328] is_a: HP:0001880 ! Eosinophilia property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T11:54:44Z xsd:dateTime created_by: peter [Term] id: HP:0032062 name: Mallory-Weiss tear def: "Vomiting-induced mucosal laceration at the esophago-gastric junction." [PMID:22560400] is_a: HP:0002031 ! Abnormal esophagus morphology property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T12:01:42Z xsd:dateTime created_by: peter [Term] id: HP:0032063 name: Ankle joint effusion def: "Abnormal accumulation of fluid in or around the ankle joint." [] is_a: HP:0003028 ! Abnormality of the ankles property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T12:08:37Z xsd:dateTime created_by: peter [Term] id: HP:0032064 name: Gastrointestinal eosinophilia def: "Eosinophilic infiltration of one or more gastrointestinal organs. Gastrointestinal eosinophilia is a broad term for abnormal eosinophil accumulation in the GI tract, involving many different disease identities. These diseases include primary eosinophil associated gastrointestinal diseases, gastrointestinal eosinophilia in HES and all gastrointestinal eosinophilic states associated with known causes. Each of these diseases has its unique features but there is no absolute boundary between them." [PMID:17868858, PMID:23964139] synonym: "Eosinophilic enteritis" EXACT [] synonym: "Eosinophilic gastroenteritis" EXACT [] synonym: "Eosinophilic gastrointestinal disease" RELATED [] synonym: "GI eosinophilia" EXACT HP:0045077 [] is_a: HP:0012718 ! Morphological abnormality of the gastrointestinal tract property_value: http://purl.org/dc/elements/1.1/date 2018-09-16T12:23:19Z xsd:dateTime created_by: peter [Term] id: HP:0032065 name: Abnormal serum bicarbonate concentration def: "Any deviation from the normal concentration of bicarbonate, HCO3[-], in the circulation." [] comment: Bicarbonate represents the second largest category of anions in plasma. The measurement of bicarbonate also captures carbonate (CO3[-2]) ions, carbon dioxide in solution, and carbamino compounds but the latter represent a tiny fraction of the total measured amount. synonym: "Abnormal serum HCO3 concentration" EXACT HP:0045077 [] is_a: HP:0004360 ! Abnormality of acid-base homeostasis property_value: http://purl.org/dc/elements/1.1/date 2018-09-23T14:32:07Z xsd:dateTime created_by: peter [Term] id: HP:0032066 name: Decreased serum bicarbonate concentration def: "An abnormal reduction of the concentration of bicarbonate, HCO3[-], in the circulation." [] synonym: "Decreased serum HCO3 concentration" EXACT HP:0045077 [] is_a: HP:0032065 ! Abnormal serum bicarbonate concentration property_value: http://purl.org/dc/elements/1.1/date 2018-09-23T14:36:14Z xsd:dateTime created_by: peter [Term] id: HP:0032067 name: Elevated serum bicarbonate concentration def: "An abnormal increase in the concentration of bicarbonate, HCO3[-], in the circulation." [] synonym: "Elevated serum HCO3 concentration" EXACT HP:0045077 [] is_a: HP:0032065 ! Abnormal serum bicarbonate concentration property_value: http://purl.org/dc/elements/1.1/date 2018-09-23T14:36:57Z xsd:dateTime created_by: peter [Term] id: HP:0032068 name: Increased urinary mucus def: "An increased amount of urinary mucus. A small amount of mucus is produced by mucous membrane epithelial cells of the urinary tract. An increased amount of mucus can be detected upon urinalysis or other assays and may indicate condictions such as urinary tract infection, urinary tract reconstruction involving the use of bowel segments, or contamination of the urine sample prior to urinaliysis." [PMID:8126784] is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: http://purl.org/dc/elements/1.1/date 2018-09-30T14:35:24Z xsd:dateTime created_by: peter [Term] id: HP:0032069 name: Anti-thyroglobulin antibody positivity def: "The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin." [PMID:21196203] comment: The autoimmune thyroid diseases (AITD), Graves' disease (GD) and Hashimoto's thyroiditis (HT) are most common endocrine disorders in humans. Both disorders are characterized by lymphocytic infiltration of the thyroid gland and the production of autoantibodies (aAb) against proteins that are thyroid-specific or expressed predominantly in the thyroid. The three main autoantigens are thyroperoxidase (TPO), thyroglobulin (Tg), and thyrotropin hormone receptor. is_a: HP:0030057 ! Autoimmune antibody positivity property_value: http://purl.org/dc/elements/1.1/date 2018-09-30T14:43:28Z xsd:dateTime created_by: peter [Term] id: HP:0032070 name: Leptomeningeal enhancement def: "Contrast material enhancement of the pia mater or enhancement that extends into the subarachnoid spaces of the sulci and cisterns is leptomeningeal enhancement. Leptomeningeal enhancement is usually associated with meningitis, which may be bacterial, viral, or fungal. The primary mechanism of this enhancement is breakdown of the blood-brain barrier without angiogenesis." [PMID:17374867] comment: Contrast material enhancement for cross-sectional imaging in computed tomography and magnetic resonance imaging can be related to intravascular (vascular) enhancement and interstitial (extravascular) enhancement. is_a: HP:0010651 ! Abnormal meningeal morphology property_value: http://purl.org/dc/elements/1.1/date 2018-09-30T15:02:42Z xsd:dateTime created_by: peter [Term] id: HP:0032071 name: Pulmonary eosinophilic infiltration def: "The presence of eosinophils in the lungs as detected by bronchoalveolar lavage or tissue biopsy, with or without blood eosinophilia." [PMID:19618037, PMID:21428117] synonym: "Eosinophilic pulmonary infiltration" EXACT [] synonym: "Pulmonary eosinophilia" RELATED [] synonym: "Pulmonary eosinophilic infiltrate" EXACT [] is_a: HP:0002088 ! Abnormal lung morphology property_value: http://purl.org/dc/elements/1.1/date 2018-09-30T15:15:06Z xsd:dateTime created_by: peter [Term] id: HP:0032072 name: Popliteal synovial cyst def: "A fluid-filled mass that is a distention of a preexisting bursa in the popliteal fossa, most commonly the gastrocnemio-semimembranosus bursa. This bursa is unique in that it communicates with the knee joint, unlike other periarticular bursae, via an opening in the joint capsule posterior to the medial femoral condyle." [PMID:25102502, PMID:26137182] comment: Popliteal synovial cysts, also known as Baker's cysts, are commonly found in association with intraarticular knee disorders, such as osteoarthritis and meniscus tears. Histologically, the cyst walls resemble synovial tissue with fibrosis, and chronic nonspecific inflammation may be present. Osteocartilaginous loose bodies may also be found within the cyst, even if they are not seen in the knee joint. Baker cysts can be a source of posterior knee pain that persists despite surgical treatment of the intraarticular lesion, and they are routinely discovered on magnetic resonance imaging scans of the symptomatic knee. Symptoms related to a popliteal cyst origin are infrequent and may be related to size. synonym: "Baker's cyst" EXACT [] is_a: HP:0002815 ! Abnormality of the knee property_value: http://purl.org/dc/elements/1.1/date 2018-10-13T11:41:38Z xsd:dateTime created_by: peter [Term] id: HP:0032073 name: Aplasia of the fallopian tube def: "Aplasia, that is failure to develop, of the fallopian tube." [] is_a: HP:0008655 ! Aplasia/Hypoplasia of the fallopian tube property_value: http://purl.org/dc/elements/1.1/date 2018-10-13T11:45:07Z xsd:dateTime created_by: peter [Term] id: HP:0032075 name: Splenopancreatic fusion def: "Fusion of the pancreatic tail and spleen." [ORCID:0000-0001-5208-3432, PMID:18398855] is_a: HP:0012090 ! Abnormal pancreas morphology is_a: HP:0025408 ! Abnormal spleen morphology property_value: http://purl.org/dc/elements/1.1/date 2018-10-13T12:42:41Z xsd:dateTime created_by: peter [Term] id: HP:0032076 name: Abnormal male urethral meatus morphology is_a: HP:0000036 ! Abnormality of the penis property_value: http://purl.org/dc/elements/1.1/date 2018-10-14T13:36:20Z xsd:dateTime created_by: peter [Term] id: HP:0032077 name: Male urethral meatus stenosis def: "An abnormal narrowing of the urethral opening (meatus) of the penis." [PMID:28537045] comment: If the sex is not indicated, meatal stenosis is generally taken to refer to males, and thus we list this term as an exact synonym. synonym: "Meatal stenosis" EXACT [] synonym: "Meatus stenosis" EXACT [] is_a: HP:0032076 ! Abnormal male urethral meatus morphology property_value: http://purl.org/dc/elements/1.1/date 2018-10-14T13:40:16Z xsd:dateTime created_by: peter [Term] id: HP:0032078 name: Angel-shaped phalanx def: "A phalangeal malformation that is termed angel-shaped phalanx (ASP), because of its resemblance to the angels used for decoration of Christmas trees. The various components of an angel-shaped phalanx are: diaphyseal cuff (wings), surrounding a meta-diaphyseal core (body), which may appear empty or structured with a cone-shaped epiphysis (skirt) and pseudoepiphysis (head)." [PMID:8267010] comment: In some cases an ASP can grow into an inconspicuous brachydactyly after physeal closure. is_a: HP:0005918 ! Abnormal finger phalanx morphology property_value: http://purl.org/dc/elements/1.1/date 2018-10-14T13:49:41Z xsd:dateTime created_by: peter [Term] id: HP:0032079 name: Medial degeneration def: "Medial degeneration of the aorta is to be used as an overarching term for any aortic surgical specimens that demonstrate one or more of the specific histopathologies mucoid extracellular matrix accumulation, elastic fiber fragmentation and/or loss, elastic fiber thinning, elastic fiber disorganization, smooth muscle cell nuclei loss, laminar medial collapse, smooth muscle cell disorganization, medial fibrosis. Grading of medial degeneration is based on the average overall severity of specific histopathologies as described, considering the worst area(s) sampled from multiple slides and aorta sections." [PMID:27031798] is_a: HP:0001679 ! Abnormal aortic morphology property_value: http://purl.org/dc/elements/1.1/date 2018-10-14T14:47:59Z xsd:dateTime created_by: peter [Term] id: HP:0032081 name: Intralamellar mucoid extracellular matrix accumulation def: "A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix does not significantly alter the arrangement of the lamellar units." [PMID:27031798] is_a: HP:0200146 ! Mucoid extracellular matrix accumulation property_value: http://purl.org/dc/elements/1.1/date 2018-10-14T14:53:06Z xsd:dateTime created_by: peter [Term] id: HP:0032082 name: Translamellar mucoid extracellular matrix accumulation def: "A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix alters the arrangement of the lamellar units to varying degrees." [PMID:27031798] is_a: HP:0200146 ! Mucoid extracellular matrix accumulation property_value: http://purl.org/dc/elements/1.1/date 2018-10-14T14:53:33Z xsd:dateTime created_by: peter [Term] id: HP:0032083 name: Aortic elastic fiber fragmentation def: "Loss and/or fragmentation of elastic fibers of the media of the aorta creating increasingly extended translamellar spaces, with absence of elastic fibers, and increased gaps in elastic fiber lamellae as identified on a stain for elastic fibers." [PMID:27031798] is_a: HP:0032079 ! Medial degeneration property_value: http://purl.org/dc/elements/1.1/date 2018-10-14T14:56:34Z xsd:dateTime created_by: peter [Term] id: HP:0032084 name: Aortic elastic fiber thinning def: "A thinning out of elastic fibers of the media of the aorta that creates widening of intralamellar spaces, as identified on a stain for elastic fibers." [PMID:27031798] comment: A healthy aorta has dense elastic fibers comprising each lamella. This term describes the elastic network as being thinned at each lamella with narrower and more frayed apart elastic fibers. This entity may be associated with an increase in extracellular matrix material in the lamellar unit. The use of an elastic stain is essential to identify this lesion. is_a: HP:0032079 ! Medial degeneration property_value: http://purl.org/dc/elements/1.1/date 2018-10-14T14:57:36Z xsd:dateTime created_by: peter [Term] id: HP:0032085 name: Aortic elastic fiber disorganization def: "Nonparallel arrangement/disarray of elastic fibers of the media of the aorta as identified on a stain for elastic fibers." [PMID:27031798] comment: This rarer process is distinct from fragmentation and loss as the fibers acquire a more haphazard, poorly organized appearance, with loss of the usual parallel/concentric arrangement of elastic fibers within the lamellar unit. This finding is noticeable when at high power, and the orientation of the lamellar units parallel to the aortic lumen is lost. The use of an elastic stain is essential to identify this lesion. Disorganization of elastic fibers can be seen in conjunction with smooth muscle cell disorganization. A poorly oriented aortic specimen may appear to have disorganization and should not be confused with the real entity. This rarer entity should be commented upon, when present as it represents a more severe feature of medial degeneration, but is not essential for routine surgical pathology reporting. is_a: HP:0032079 ! Medial degeneration property_value: http://purl.org/dc/elements/1.1/date 2018-10-14T14:58:51Z xsd:dateTime created_by: peter [Term] id: HP:0032086 name: Aortic smooth muscle cell nuclei loss def: "A region of the aortic media in which smooth muscle cell nuclei, involving multiple lamellae, are not clearly identifiable on an hematoxylin and eosin stain." [PMID:27031798] comment: Smooth muscle cell nuclei loss replaces terms such as medionecrosis and smooth muscle cell necrosis that implied a loss of smooth muscle cells. While the loss of a nucleus suggests the loss of the entire cell, this is not easily appreciated on an hematoxylin and eosin stain stain. The shorter term smooth muscle cell loss was also considered by the consensus group and had many proponents, but the addition of nuclei was ultimately favored by the majority mostly as a histologic definition. Smooth muscle cell nuclei can be lost in patches or can be lost in a band-like pattern. This lesion can be noted in the absence of laminar medial collapse, described below. Both stains highlighting collagen and SMA immunohistochemistry can be used to highlight smooth muscle cell changes. is_a: HP:0032079 ! Medial degeneration property_value: http://purl.org/dc/elements/1.1/date 2018-10-14T15:00:16Z xsd:dateTime created_by: peter [Term] id: HP:0032087 name: Aortic laminar medial collapse def: "Architecturally, a compaction of aortic medial elastic fibers that creates thinning of the lamellar unit secondary to a band-like smooth muscle cell loss identified using a stain for elastic fibers." [PMID:27031798] comment: Laminar medial collapse replaces the old term laminar medial necrosis and is to be used only when an elastic stain has demonstrated elastic fiber compaction. Laminar medial collapse appears as a darker band on an elastic stain as a result of a significant loss of intermixed smooth muscle cells. is_a: HP:0032079 ! Medial degeneration property_value: http://purl.org/dc/elements/1.1/date 2018-10-14T15:03:08Z xsd:dateTime created_by: peter [Term] id: HP:0032088 name: Aortic smooth muscle cell disorganization def: "Nonparallel arrangement/disarray of smooth muscle cells of the aortic media creating focal/multifocal disarray or sometimes nodular aggregates of smooth muscle cells." [PMID:27031798] is_a: HP:0032079 ! Medial degeneration property_value: http://purl.org/dc/elements/1.1/date 2018-10-14T15:04:49Z xsd:dateTime created_by: peter [Term] id: HP:0032089 name: Aortic medial fibrosis def: "An increase in collagen fibers creating areas of substitutive fibrosis or a widening of intralamellar spaces in the media of the aorta. This can be seen in conjunction with a loss to varying degrees of parallel arrangement of the elastic lamellae (or lamellar units)." [PMID:27031798] is_a: HP:0032079 ! Medial degeneration property_value: http://purl.org/dc/elements/1.1/date 2018-10-14T15:05:54Z xsd:dateTime created_by: peter [Term] id: HP:0032090 name: Intralamellar aortic medial fibrosis def: "A type of aortic medial fibrosis in which the increase in collagen does not significantly alter the arrangement of the lamellar units." [PMID:27031798] is_a: HP:0032089 ! Aortic medial fibrosis property_value: http://purl.org/dc/elements/1.1/date 2018-10-14T15:08:14Z xsd:dateTime created_by: peter [Term] id: HP:0032091 name: Translamellar aortic medial fibrosis def: "A type of aortic medial fibrosis in which the increase in collagen is more scar-like, altering the arrangement of the lamellar units." [PMID:27031798] is_a: HP:0032089 ! Aortic medial fibrosis property_value: http://purl.org/dc/elements/1.1/date 2018-10-14T15:08:22Z xsd:dateTime created_by: peter [Term] id: HP:0032092 name: Left ventricular outflow tract obstruction def: "Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle." [PMID:29262119] comment: Common causes of left ventricular outflow tract (LVOT) obstruction include subaortic stenosis, bicupsid aortic valve, supravalvar aortic stenosis, coarctation of the aorta, and hypertrophic cardiomyopathy. Note that we reserve this term to describe the physiological abnormality, and denote the morphological abnormalities that lead to LVOT obstruction in the corresponding Morphology sections of the HPO. is_a: HP:0030872 ! Abnormal cardiac ventricular function property_value: http://purl.org/dc/elements/1.1/date 2018-10-14T15:15:58Z xsd:dateTime created_by: peter [Term] id: HP:0032094 name: Increased circulating surfactant protein level def: "An increased concentration of a surfactant protein in the blood circulation." [] comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Increased levels of serum SP-A, SP-B, SP-C and SP-D may reflect lung damage. synonym: "Increased serum surfactant protein level" EXACT [] is_a: HP:0010876 ! Abnormal circulating protein level property_value: http://purl.org/dc/elements/1.1/date 2018-11-04T10:03:02Z xsd:dateTime created_by: peter [Term] id: HP:0032096 name: Abnormal manganese concentration def: "A deviation from the normal range of manganese in the blood circulation." [] is_a: HP:0010927 ! Abnormal blood inorganic cation concentration property_value: http://purl.org/dc/elements/1.1/date 2018-11-04T11:11:31Z xsd:dateTime created_by: peter [Term] id: HP:0032097 name: Hypermanganesemia def: "An elevation above the normal concentration of manganese in the blood." [PMID:29382362] synonym: "Increased blood manganese concentration" EXACT [] is_a: HP:0032096 ! Abnormal manganese concentration property_value: http://purl.org/dc/elements/1.1/date 2018-11-04T11:12:18Z xsd:dateTime created_by: peter [Term] id: HP:0032098 name: Hypomanganesemia synonym: "A reduction below the normal concentration of manganese in the blood." EXACT [] is_a: HP:0032096 ! Abnormal manganese concentration property_value: http://purl.org/dc/elements/1.1/date 2018-11-04T11:14:54Z xsd:dateTime created_by: peter [Term] id: HP:0032099 name: Perioral radial furrowing def: "The presence of radial grooves in the skin surrounding the mouth (see Figure 4 of PMID:27833976)." [PMID:27833976] is_a: HP:0011355 ! Localized skin lesion property_value: http://purl.org/dc/elements/1.1/date 2018-11-04T11:17:31Z xsd:dateTime created_by: peter [Term] id: HP:0032100 name: Abnormal doll's eye reflex def: "The doll's eye reflex (also known as oculocephalic reflex) is a test of brain function that is performed in comatose patients by elevating the head roughly 30 degrees and rapidly rotating the head from side to side with the eyes kept open. A normal response is for the eyes to move in the opposite direction. If the eyes do not move in the opposite direction this may indicate severe brain damage." [PMID:7299406] is_a: HP:0007670 ! Abnormal vestibulo-ocular reflex property_value: http://purl.org/dc/elements/1.1/date 2018-11-04T11:33:35Z xsd:dateTime created_by: peter [Term] id: HP:0032101 name: Unusual infection def: "A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystisjirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections." [PMID:22052638] is_a: HP:0010978 ! Abnormality of immune system physiology property_value: http://purl.org/dc/elements/1.1/date 2018-11-04T22:23:03Z xsd:dateTime created_by: peter [Term] id: HP:0032102 name: Wilson sign def: "Wilson sign is defined as the elicitation of pain by internally rotating the patient's tibia during knee extension between 90 degrees and 30 degrees of flexion and then relieving that pain by externally rotating the tibia." [PMID:12975201] comment: Wilson sign may be indicative of medial femoral osteochondritis dissecans. Wilson postulated that impingement of the tibial eminence on the osteochondritic lesion caused pain and a resultant compensatory lateral rotation during gait. is_a: HP:0030839 ! Knee pain property_value: http://purl.org/dc/elements/1.1/date 2018-11-04T22:45:32Z xsd:dateTime created_by: peter [Term] id: HP:0032104 name: Saccadic oscillation def: "An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by an immediate corrective saccade." [UManchester:psergouniotis] synonym: "Saccadic oscillations" EXACT HP:0045078 [] is_a: HP:0000570 ! Abnormal saccadic eye movements property_value: http://purl.org/dc/elements/1.1/date 2018-11-04T23:03:21Z xsd:dateTime created_by: peter [Term] id: HP:0032105 name: Macrosaccadic oscillations def: "A type of saccadic oscillations with brief periods of fixation between saccades (intersaccadic interval approximately 200 msec). Macrosaccadic oscillations (up to 40 degrees) straddle the intended fixatrion position and show a crescendo-decrescendo pattern." [PMID:14681893] comment: Macrosaccadic oscillation is usually observed in acute damage to the dorsal cerebellum involving the deep cerebellar nuclei, as in demyelination, tumour or haematoma. is_a: HP:0032104 ! Saccadic oscillation property_value: http://purl.org/dc/elements/1.1/date 2018-11-04T23:04:28Z xsd:dateTime created_by: peter [Term] id: HP:0032106 name: Conjunctival icterus def: "Conjunctival icterus is a condition where there is yellowing of the whites of the eyes. This is most commonly seen in patients who have liver disease." [] synonym: "Scleral icterus" EXACT [] synonym: "Yellow conjunctiva" EXACT [] synonym: "Yellow sclera" EXACT [] synonym: "Yellowing of the whites of the eyes" EXACT layperson [] is_a: HP:0000502 ! Abnormal conjunctiva morphology property_value: http://purl.org/dc/elements/1.1/date 2018-11-17T13:40:31Z xsd:dateTime created_by: peter [Term] id: HP:0032107 name: Limbal stem cell deficiency def: "A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus." [PMID:26788074, UManchester:psergouniotis] comment: The corneal epithelium covers the corneal surface and plays a major role in protection and transparency. Epithelial cells are shed regularly and replaced by stem cell sources located at the limbus, a rim of tissue located at the junction of the cornea and sclera. The limbal epithelial stem cells reside in specific regions at the limbus known as the limbal stem cell niches. Damage to the stem cells or disruption of the niches may lead to Limbal Stem Cell Deficiency. In the absence of a healthy corneal epithelium, the conjunctiva proliferates over the cornea resulting in opacification and vascularization, which in turn may lead to reduced vision, pain, and photophobia. is_a: HP:0004328 ! Abnormal anterior eye segment morphology property_value: http://purl.org/dc/elements/1.1/date 2018-11-17T14:09:53Z xsd:dateTime created_by: peter [Term] id: HP:0032108 name: Mildly reduced contrast sensitivity def: "A mild reduction in the ability to perceive visual contrast characterized by 0.20-0.59 log unit contrast sensitivity loss." [UManchester:psergouniotis] synonym: "Mild reduction in contrast sensitivity" EXACT [] is_a: HP:0032036 ! Abnormal contrast sensitivity property_value: http://purl.org/dc/elements/1.1/date 2018-11-17T14:16:34Z xsd:dateTime created_by: peter [Term] id: HP:0032109 name: Moderately reduced contrast sensitivity def: "A moderate reduction in the ability to perceive visual contrast characterized by 0.60-0.99 log unit contrast sensitivity loss." [UManchester:psergouniotis] synonym: "Moderate reduction in contrast sensitivity" EXACT [] is_a: HP:0032036 ! Abnormal contrast sensitivity property_value: http://purl.org/dc/elements/1.1/date 2018-11-17T14:18:29Z xsd:dateTime created_by: peter [Term] id: HP:0032110 name: Severely reduced contrast sensitivity def: "A severe reduction in the ability to perceive visual contrast characterized by 1.00 log unit or more contrast sensitivity loss." [UManchester:psergouniotis] is_a: HP:0032036 ! Abnormal contrast sensitivity property_value: http://purl.org/dc/elements/1.1/date 2018-11-17T14:20:27Z xsd:dateTime created_by: peter [Term] id: HP:0032111 name: Abnormal Vistech contrast sensitivity test def: "An abnormality in perception of contrast as measured by the Vistech wall chart sine wave grating test." [PMID:1911660] is_a: HP:0032036 ! Abnormal contrast sensitivity property_value: http://purl.org/dc/elements/1.1/date 2018-11-17T14:23:03Z xsd:dateTime created_by: peter [Term] id: HP:0032112 name: Abnormal Pelli Robson contrast sensitivity chart test def: "An abnormality in perception of contrast as measured by the Pelli-Robson contrast sensitivity chart, which is a large wall-mounted chart, with letters of a fixed size (comprising spatial frequencies appropriate for estimating peak contrast sensitivity) that decrease in contrast." [PMID:16723494, UManchester:psergouniotis] is_a: HP:0032036 ! Abnormal contrast sensitivity property_value: http://purl.org/dc/elements/1.1/date 2018-11-17T14:25:09Z xsd:dateTime created_by: peter [Term] id: HP:0032113 name: Semidominant mode of inheritance def: "A mode of inheritance that is observed for traits related to a gene encoded on chromosomes in which a trait can manifest in the heterozygotes and homozygotes, with differing phenotype severity present dependent on the number of alleles affected." [ClinGen:courtneythaxton, ClinGen:erinriggs, ClinGen:jennygoldstein, ClinGen:jimmyzqhen, ClinGen:marinadistefano, ClinGen:mattwright, ClinGen:scottgoehringer, ClinGen:tristannelson] comment: Familial hypercholesterolemia is an example of a disease with this inheritance pattern. is_a: HP:0000005 ! Mode of inheritance property_value: http://purl.org/dc/elements/1.1/date 2018-11-17T14:33:51Z xsd:dateTime created_by: peter [Term] id: HP:0032114 name: Saccadic intrusion def: "An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by a delayed corrective saccade." [UManchester:psergouniotis] is_a: HP:0000570 ! Abnormal saccadic eye movements property_value: http://purl.org/dc/elements/1.1/date 2018-11-17T14:42:13Z xsd:dateTime created_by: peter [Term] id: HP:0032116 name: Macrosquare-wave jerks def: "Horizontal 10-40 degree excursions from fixation and back again." [ISBN:978-0198804550, UManchester:psergouniotis] is_a: HP:0032114 ! Saccadic intrusion property_value: http://purl.org/dc/elements/1.1/date 2018-11-17T14:46:33Z xsd:dateTime created_by: peter [Term] id: HP:0032117 name: Macrosaccadic oscillation def: "Series of hypermetric saccades attempting to narrow in on the target (ocular past-pointing)." [ISBN:978-0198804550, UManchester:psergouniotis] is_a: HP:0032114 ! Saccadic intrusion property_value: http://purl.org/dc/elements/1.1/date 2018-11-17T14:47:15Z xsd:dateTime created_by: peter [Term] id: HP:0032118 name: Retinitis def: "Inflammation of the retina of the eye." [UManchester:psergouniotis] comment: Note that the term Chorioretinitis suggests that the origin of the process is predominantly in the choroid while Retinitis suggests that the process is mainly in the retina. is_a: HP:0000479 ! Abnormal retinal morphology property_value: http://purl.org/dc/elements/1.1/date 2018-11-17T14:59:57Z xsd:dateTime created_by: peter [Term] id: HP:0032119 name: Narrow angle glaucoma def: "A type of glaucomatous optic neuropathy occuring in the presence of a narrow anterior chamber angle." [UManchester:psergouniotis] is_a: HP:0000501 ! Glaucoma property_value: http://purl.org/dc/elements/1.1/date 2018-11-17T15:31:48Z xsd:dateTime created_by: peter [Term] id: HP:0032120 name: Abnormal peripheral nervous system physiology def: "Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord." [] is_a: HP:0410008 ! Abnormality of the peripheral nervous system property_value: http://purl.org/dc/elements/1.1/date 2018-11-17T16:57:55Z xsd:dateTime created_by: peter [Term] id: HP:0032121 name: Froment sign def: "An abnormal result of a physical examination of the the hand that tests for palsy of the ulnar nerve. This nerve innervates the adductor pollicis and interossei muscles and thereby enables adduction of the thumb and extension of the interphalangeal joint. An abnormal result consists in reduced functionality and muscular weakness in the pinch grip between the thumb and index finger of the affected hand as the patient attempts to pinch a piece of paper that the examiner tries to pull away. The flexor pollicis longus muscle tries to compensate for the weakness by flexing the tip of the thumb at the interphalangeal joint." [PMID:12916637] synonym: "Froment thumb sign" EXACT [] is_a: HP:0032120 ! Abnormal peripheral nervous system physiology property_value: http://purl.org/dc/elements/1.1/date 2018-11-17T16:58:42Z xsd:dateTime created_by: peter [Term] id: HP:0032122 name: Very low visual acuity def: "A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590)." [] is_a: HP:0007663 ! Reduced visual acuity property_value: http://purl.org/dc/elements/1.1/date 2018-11-18T14:04:38Z xsd:dateTime created_by: peter [Term] id: HP:0032123 name: Ultra-low vision def: "Best corrected visual acuity worse than 1.90 logMAR (roughly 20/1590)." [] is_a: HP:0007663 ! Reduced visual acuity property_value: http://purl.org/dc/elements/1.1/date 2018-11-18T14:06:19Z xsd:dateTime created_by: peter [Term] id: HP:0032124 name: Abnormal proportion of non-class-switched memory B cells def: "A deviation of the normal proportion of non-class-switched memory B cells in circulation relative to the total number of B cells." [PMID:28882820] is_a: HP:0030373 ! Abnormal proportion of memory B cells property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T12:51:44Z xsd:dateTime created_by: peter [Term] id: HP:0032125 name: Increased proportion of non-class-switched memory B cells def: "An increase above the normal proportion of non-class-switched memory B cells relative to the total number of B cells." [] is_a: HP:0032124 ! Abnormal proportion of non-class-switched memory B cells property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T12:52:52Z xsd:dateTime created_by: peter [Term] id: HP:0032126 name: Decreased proportion of non-class-switched memory B cells def: "A reduction below the normal proportion of non-class-switched memory B cells relative to the total number of B cells." [] is_a: HP:0032124 ! Abnormal proportion of non-class-switched memory B cells property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T12:53:34Z xsd:dateTime created_by: peter [Term] id: HP:0032127 name: Abnormal plasmablast proportion def: "A deviation from the normal proportion of plasmablasts in circulation relative to total number of B cells. Plasmablasts are antibody-secreting cells that originate after infection or vaccination." [PMID:22566959] comment: Differentiation of B cells into plasmablasts (PB) is most commonly monitored with surface markers CD19, CD20, CD27, CD38, and CD138 and intracellular marker Ki-67. is_a: HP:0025539 ! Abnormal B cell subset distribution property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T12:59:19Z xsd:dateTime created_by: peter [Term] id: HP:0032128 name: Increased proportion of plasmablasts def: "An elevation above the normal proportion of plasmablasts in circulation relative to total number of B cells." [] is_a: HP:0032127 ! Abnormal plasmablast proportion property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T13:02:17Z xsd:dateTime created_by: peter [Term] id: HP:0032129 name: Decreased proportion of plasmablasts def: "A reduction below the normal proportion of plasmablasts in circulation relative to total number of B cells." [] is_a: HP:0032127 ! Abnormal plasmablast proportion property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T13:02:59Z xsd:dateTime created_by: peter [Term] id: HP:0032130 name: Mycobacterium abscessus abscessus infection def: "Mycobacterium abscessus complex comprises a group of rapidly growing, multidrug-resistant, nontuberculous mycobacteria that are responsible for a wide spectrum of skin and soft tissue diseases, central nervous system infections, bacteremia, and ocular and other infections." [PMID:26295364] is_a: HP:0032260 ! Opportunistic bacterial infection property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T13:30:48Z xsd:dateTime created_by: peter [Term] id: HP:0032131 name: Cervical dysplasia def: "Cervical dysplasia is the precursor to cervical cancer. It is caused by the persistent infection of the human papillomavirus (HPV) into the cervical tissue. Affected cells develop morphologic features with immature basaloid- type squamous cells and mitotic figures in the upper half of the cervical epithelium." [PMID:12525422] is_a: HP:0012888 ! Abnormality of the uterine cervix property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T13:45:16Z xsd:dateTime created_by: peter [Term] id: HP:0032132 name: Decreased circulating total IgG def: "A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood." [PMID:17910333] comment: Reductions in total IgG levels in adolescents or adults may be classified as mild-moderate (300-600 mg/dL), significant (100-299 mg/dL), or profoundly reduced (less than 100 mg/dL). In adolescents and adults, a total immunoglobulin (IgG + IgM + IgA) level greater than 600 mg/dL, with confirmed normal antibody responses, probably excludes humoral deficiency. Total immunoglobulin levels of 400 to 600 mg/dL or IgG levels of 200 to 400 mg/dL may contain adequate amounts of antibody; this becomes less likely if total immunoglobulin levels are less than 400 mg/dL or serum IgG levels are less than 200 mg/dL. is_a: HP:0004315 ! Decreased circulating IgG level property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T14:04:50Z xsd:dateTime created_by: peter [Term] id: HP:0032133 name: Transient decreased circulating total IgG def: "A temporary reduction beneath the normal level of total immunoglobulin G (IgG) in the blood." [] is_a: HP:0032132 ! Decreased circulating total IgG property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T14:08:44Z xsd:dateTime created_by: peter [Term] id: HP:0032134 name: Chronic decreased circulating total IgG def: "A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood." [] is_a: HP:0032132 ! Decreased circulating total IgG property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T14:09:15Z xsd:dateTime created_by: peter [Term] id: HP:0032135 name: Decreased circulating IgG subclass level def: "A reduction below the normal concentration of a subclass of immunoglobulin G (IgG) in the blood." [PMID:17910333] comment: IgG subclass deficiency is defined as a reduction in 1 or more subclasses of IgG (IgG1 and IgG2 in particular) by more than 2 SDs below the mean for age-matched controls. Deficiencies in IgG1 or IgG2 are more likely to cause low serum IgG levels because these are the major components. IgG1 levels stabilize by the age of 5 years; however, adult levels of IgG2, IgG3, and IgG4 may not be achieved until adolescence. Thus, the interpretation of subclass levels is additionally problematic because levels of each subclass increase at different rates during development. is_a: HP:0004315 ! Decreased circulating IgG level property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T14:26:10Z xsd:dateTime created_by: peter [Term] id: HP:0032136 name: Decreased circulating IgG1 level def: "A reduction in immunoglobulin levels of the IgG1 subclass in the blood circulation." [] is_a: HP:0032135 ! Decreased circulating IgG subclass level property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T14:29:21Z xsd:dateTime created_by: peter [Term] id: HP:0032137 name: Decreased circulating IgG3 level def: "A reduction in immunoglobulin levels of the IgG3 subclass in the blood circulation." [] is_a: HP:0032135 ! Decreased circulating IgG subclass level property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T14:29:27Z xsd:dateTime created_by: peter [Term] id: HP:0032138 name: Decreased circulating IgG4 level def: "A reduction in immunoglobulin levels of the IgG4 subclass in the blood circulation." [PMID:26929632] is_a: HP:0032135 ! Decreased circulating IgG subclass level property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T14:29:39Z xsd:dateTime created_by: peter [Term] id: HP:0032139 name: Reduced isohemagglutinin level def: "Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person)." [PMID:25309532] comment: The determination of isohemagglutinins can be used to evaluate an individual's ability to mount an immune response except in persons with blood group AB. synonym: "Decreased natural antibody to blood group agents" EXACT [] is_a: HP:0410292 ! Abnormal isohemagglutinin level property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T15:04:35Z xsd:dateTime created_by: peter [Term] id: HP:0032140 name: Decreased specific antibody response to vaccination def: "A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination." [PMID:26018535] is_a: HP:0012475 ! Decreased circulating level of specific antibody property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T15:08:46Z xsd:dateTime created_by: peter [Term] id: HP:0032141 name: Precordial pain def: "A type of chest pain that arises in the or under the left breast and often described as throbbing, stabbing, or burning, and lasting hours or longer. The pain may arise with or after effort, and may spread to the left arm or left side of the neck." [PMID:18122452] is_a: HP:0100749 ! Chest pain property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T15:23:39Z xsd:dateTime created_by: peter [Term] id: HP:0032142 name: Fetor hepaticus def: "Fetor hepaticus is the characteristic breath of patients with severe parenchymal liver disease, which has been said to resemble the odor of a mixture of rotten eggs and garlic." [PMID:10791209] synonym: "Foetor hepaticus" EXACT HP:0045076 [] is_a: HP:0100812 ! Halitosis property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T15:28:47Z xsd:dateTime created_by: peter [Term] id: HP:0032143 name: Burning mouth def: "An intense sensation of burning, scalding, or tingling feeling of the tongue or other regions of the oral mucosa." [PMID:25952601] comment: This term implies that there is no obvious oral mucosal lesion causing the pain. is_a: HP:0031815 ! Abnormal oral physiology property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T15:36:33Z xsd:dateTime created_by: peter [Term] id: HP:0032144 name: Coffee ground vomitus def: "Vomit that has the appearance of coffee grounds, which occurs due to the presence of coagulated blood in the vomit." [PMID:19564091] synonym: "Coffee grounds emesis" EXACT [] synonym: "Coffee grounds vomiting" EXACT [] is_a: HP:0002239 ! Gastrointestinal hemorrhage property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T15:39:44Z xsd:dateTime created_by: peter [Term] id: HP:0032145 name: Sural nerve atrophy def: "Wasting of the sural nerve, a sensory nerve in the calf region of the leg." [] synonym: "Atrophy of sural nerve" EXACT [] is_a: HP:0045010 ! Abnormality of peripheral nerves property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T16:26:37Z xsd:dateTime created_by: peter [Term] id: HP:0032146 name: HbC hemoglobin def: "Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a lysine (6GAG>6AAG). The presence of HbC can be determined by hemoglobin electrophoresis." [PMID:15215497, PMID:20301551] synonym: "Hemoglobin C" EXACT [] is_a: HP:0011902 ! Abnormal hemoglobin property_value: http://purl.org/dc/elements/1.1/date 2018-11-22T16:41:53Z xsd:dateTime created_by: peter [Term] id: HP:0032147 name: Erythromelalgia def: "Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet." [ORCID:0000-0002-1089-1543, PMID:26419464] comment: Warmth, ambulation, physical exercise, sitting, leg dependence and wearing shoes or gloves can provoke and aggravate symptoms while immersion in ice/cold water, uncovering affected areas, ventilation and elevation can ameliorate these symptoms. Pain attacks usually start with an itchy-like feeling and then progress to a severe burning sensation as was reported by most patients, with the durations of which ranging from several minutes to hours and even days. Erythromelalgia can be a Mendelian trait or can be triggered by polycythemia vera, lymphoproliferative disorders, hypertension, and hyperviscosity. is_a: HP:0012531 ! Pain property_value: http://purl.org/dc/elements/1.1/date 2018-12-02T12:02:08Z xsd:dateTime created_by: peter [Term] id: HP:0032148 name: Episodic pain def: "Intermittant pain, i.e., pain that occurs occasionally and at irregular intervals." [] is_a: HP:0012531 ! Pain property_value: http://purl.org/dc/elements/1.1/date 2018-12-02T12:21:16Z xsd:dateTime created_by: peter [Term] id: HP:0032149 name: Breakthrough pain def: "A episode of severe pain that breaks through (i.e., temporarily exacerbates) a period of persistent pain." [PMID:26438145] is_a: HP:0032148 ! Episodic pain property_value: http://purl.org/dc/elements/1.1/date 2018-12-02T12:26:17Z xsd:dateTime created_by: peter [Term] id: HP:0032150 name: Paroxysmal rectal pain def: "Excruciating burning pain in the rectal area that may be triggered by defecation." [PMID:29650526] is_a: HP:0032148 ! Episodic pain is_a: HP:0500005 ! Anal pain property_value: http://purl.org/dc/elements/1.1/date 2018-12-02T12:29:59Z xsd:dateTime created_by: peter [Term] id: HP:0032151 name: Episodic eosinophilia def: "Recurrent episodes of marked eosinophilia that resolve spontaneously." [PMID:25527564] is_a: HP:0001880 ! Eosinophilia property_value: http://purl.org/dc/elements/1.1/date 2018-12-02T12:56:00Z xsd:dateTime created_by: peter [Term] id: HP:0032152 name: Keratosis pilaris def: "An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs." [PMID:27194977] comment: Keratosis pilaris is characterized by keratinisation of the hair follicles of the skin. is_a: HP:0011121 ! Abnormality of skin morphology property_value: http://purl.org/dc/elements/1.1/date 2018-12-02T13:20:11Z xsd:dateTime created_by: peter [Term] id: HP:0032153 name: Joint subluxation def: "A partial dislocation of a joint." [] is_a: HP:0001367 ! Abnormal joint morphology property_value: http://purl.org/dc/elements/1.1/date 2018-12-02T13:55:17Z xsd:dateTime created_by: peter [Term] id: HP:0032154 name: Aphthous ulcer def: "Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border." [PMID:25346356] synonym: "Canker sore" EXACT layperson [] is_a: HP:0011830 ! Abnormal oral mucosa morphology property_value: http://purl.org/dc/elements/1.1/date 2018-12-02T14:06:55Z xsd:dateTime created_by: peter [Term] id: HP:0032155 name: Abdominal cramps def: "A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity." [] is_a: HP:0002027 ! Abdominal pain property_value: http://purl.org/dc/elements/1.1/date 2018-12-02T14:21:11Z xsd:dateTime created_by: peter [Term] id: HP:0032156 name: Skin detachment def: "Loss of sections of skin either spontaneously or after gentle handling." [PMID:27656858, RGD:gthayman] synonym: "Detached skin" EXACT [] synonym: "Epidermal detachment" EXACT [] synonym: "Skin sloughing" EXACT [] is_a: HP:0011355 ! Localized skin lesion property_value: http://purl.org/dc/elements/1.1/date 2018-12-02T15:19:00Z xsd:dateTime created_by: peter [Term] id: HP:0032157 name: Recurrent genital herpes def: "Recurrent episodes of genital herpes, typically characterized by stages of erythema, papules, short-lived vesicles, painful ulcers, and crusts on the skin of the genitals and surrounding area, and that typically resolve over a period of 2 to 3 weeks." [PMID:27532832] is_a: HP:0005353 ! Recurrent herpes property_value: http://purl.org/dc/elements/1.1/date 2018-12-02T15:33:20Z xsd:dateTime created_by: peter [Term] id: HP:0032158 name: Unusual infection by anatomical site def: "An unusual infection classified by the affected body part." [] is_a: HP:0032101 ! Unusual infection property_value: http://purl.org/dc/elements/1.1/date 2018-12-09T12:17:59Z xsd:dateTime created_by: peter [Term] id: HP:0032159 name: Fungal meningitis def: "An infection of the meninges caused by a fungus. Generally, only individuals with deficiencies of the immune system contract fungal meningitis." [PMID:29244019] is_a: HP:0001287 ! Meningitis property_value: http://purl.org/dc/elements/1.1/date 2018-12-09T12:21:08Z xsd:dateTime created_by: peter [Term] id: HP:0032160 name: Cryptococcal meningitis def: "A type of fungal meningitis caused by an encapsulated yeast that belongs to the genus Cryptococcus. Cryptococcus neoformans and Cryptococcus gattii are responsible for the majority of cases of human cryptococcosis." [PMID:24715488] comment: Cryptococcus yeasts are ubiquitous in the environment and are acquired by inhalation. In the immunocompromised host, reactivation of latent disease is believed to be responsible for the subsequent development of cryptococcal disease. For instance, in persons with depletion of CD4+ T cells, the ability of the immune response to adequately contain cryptococcal infection is impaired. is_a: HP:0032159 ! Fungal meningitis property_value: http://purl.org/dc/elements/1.1/date 2018-12-09T12:26:39Z xsd:dateTime created_by: peter [Term] id: HP:0032161 name: Coccidioidal meningitis def: "A type of fungal meningitis caused by dissemination of coccidioides to to basilar meninges." [PMID:27927853] comment: Coccidioides species are soil-dwelling fungi that are the causative pathogen of coccidioidomycosis, also known as Valley fever. Infection occurs from inhalation of fungal spores that become airborne from soil in endemic regions. Sixty percent of infections are asymptomatic. The rate of dissemination from primary infection to extrapulomonary sites is higher in immune-compromised individuals. A common site of dissemination is to the basilar meninges, resulting in coccidioidal meningitis. is_a: HP:0032159 ! Fungal meningitis property_value: http://purl.org/dc/elements/1.1/date 2018-12-09T12:30:16Z xsd:dateTime created_by: peter [Term] id: HP:0032162 name: Unusual skin infection def: "A type of infection of the skin that can be regarded as a sign of a pathological susceptibility to infection." [] is_a: HP:0011122 ! Abnormality of skin physiology is_a: HP:0032158 ! Unusual infection by anatomical site property_value: http://purl.org/dc/elements/1.1/date 2018-12-09T12:47:37Z xsd:dateTime created_by: peter [Term] id: HP:0032163 name: Molluscum contagiosum def: "Molluscum contagiosum is a cutaneous viral infection that is commonly observed in both healthy and immunocompromised children. The infection is caused by a member of the Poxviridae family, the molluscum contagiosum virus. Molluscum contagiosum presents as single or multiple small white or flesh-colored papules that typically have a central umbilication. The central umbilication may be difficult to observe in young children and, instead, may bear an appearance similar to an acneiform eruption. The lesions vary in size (from 1 mm to 1 cm in diameter) and are painless, although a subset of patients report pruritus in the area of infection. On average, 11-20 papules appear on the body during the course of infection and generally remains a self-limiting disease. However, in immunosuppressed patients, molluscum contagiosum can be a severe infection with hundreds of lesions developing on the body. Extensive eruption is indicative of an advanced immunodeficiency state." [PMID:24740746] is_a: HP:0032162 ! Unusual skin infection property_value: http://purl.org/dc/elements/1.1/date 2018-12-09T12:51:15Z xsd:dateTime created_by: peter [Term] id: HP:0032164 name: Increased blood folate concentration synonym: "An elevated circulating concentration of folic acid, which is also known as vitamin B9." EXACT [] is_a: HP:0040087 ! Abnormal blood folate concentration property_value: http://purl.org/dc/elements/1.1/date 2018-12-09T14:04:29Z xsd:dateTime created_by: peter [Term] id: HP:0032165 name: Placental mesenchymal dysplasia def: "Placental mesenchymal dysplasia is an abnormality of the stem villi of the placenta that may be mistaken for a hydatidiform mole, and in particular, partial mole, owing to the mixture of cysts and normal-appearing parenchyma. The stem (anchoring) villi form as outgrowths of the chorionic plate early in placentogenesis and give rise to the branching villous trees." [PMID:25171710, PMID:28515588] comment: Histologically, placental mesenchymal dysplas (PMD) shows enlarged edematous stem villi with dilated vessels and absent trophoblastic proliferation. Cisterns may be seen within stem villi. The vessels are thick walled, with fibromuscular hyperplasia. Terminal villi are usually normal. The edematous stem villous stroma stains for Alcian blue, but is negative for smooth muscle actin, which shows positive staining of normal villous stroma. Staining for desmin and vimentin is retained in PMD, similarly to normal villous stroma. is_a: HP:0100767 ! Abnormality of the placenta property_value: http://purl.org/dc/elements/1.1/date 2018-12-09T14:14:16Z xsd:dateTime created_by: peter [Term] id: HP:0032166 name: Unusual gastrointestinal infection synonym: "Unusual GI infection" EXACT HP:0045077 [] is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract property_value: http://purl.org/dc/elements/1.1/date 2018-12-09T14:21:56Z xsd:dateTime created_by: peter [Term] id: HP:0032167 name: Clostridium difficile enteritis def: "An infection of the small intestine (enteritis) by clostridium difficile." [] comment: Clostridium difficile (C. difficile) is a common nosocomial infection caused by a gram-negative spore forming organism that most commonly leads to pseudomembranous colitis. Certain individuals are able to mount an effective immunoglobulin G response against C. difficile toxin A. This humoral immune response against the C. difficile toxin is believed to allow an individual to become an asymptomatic carrier. In contrast, people who fail to mount an immune response to C. difficile toxin are susceptible to infection. In general, patients on immunosuppressive therapy have a blunted ability to mount immune responses and, therefore, may be at greater risk for infection. synonym: "C. difficile enteritis" EXACT HP:0045077 [] is_a: HP:0032166 ! Unusual gastrointestinal infection property_value: http://purl.org/dc/elements/1.1/date 2018-12-09T14:22:48Z xsd:dateTime created_by: peter [Term] id: HP:0032168 name: Clostridium difficile colitis def: "An infection of the colon (colitis) by clostridium difficile." [PMID:22298971] is_a: HP:0032166 ! Unusual gastrointestinal infection property_value: http://purl.org/dc/elements/1.1/date 2018-12-09T14:28:28Z xsd:dateTime created_by: peter [Term] id: HP:0032169 name: Severe infection def: "A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection." [] synonym: "Unusual course of infection" EXACT [] is_a: HP:0032101 ! Unusual infection property_value: http://purl.org/dc/elements/1.1/date 2018-12-16T15:11:20Z xsd:dateTime created_by: peter [Term] id: HP:0032170 name: Severe varicella zoster infection def: "An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella." [PMID:21748081, PMID:23248376] comment: Varicella-zoster virus (VZV) is one of eight herpes viruses known to cause human infection and is distributed worldwide. Varicella zoster infections are considered to be mild and ubiquitous infections predominantly affecting the paediatric population. However, in adults and in specific groups of patients, such as those who are immunosuppressed, varicella infections can be fulminant and life threatening. is_a: HP:0031691 ! Severe viral infection property_value: http://purl.org/dc/elements/1.1/date 2018-12-16T15:12:18Z xsd:dateTime created_by: peter [Term] id: HP:0032171 name: Bladder pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the urinary bladder. Bladder pain may be more pronounced with a full bladder and relieved upon urination, but this is not always the case." [] is_a: HP:0012531 ! Pain property_value: http://purl.org/dc/elements/1.1/date 2018-12-16T15:23:31Z xsd:dateTime created_by: peter [Term] id: HP:0032172 name: Air crescent sign def: "A crescent of air surrounding a soft-tissue mass in a pulmonary cavity and can be seen in both plain X-ray and CT scan." [PMID:26312141] comment: The air crescent sign is said to be characteristic of invasive pulmonary aspergillosis, but it can also be seen in cavitating neoplasms, lung abscesses, and infections. This sign is considered a good marker of immune activity as it is seen when the necrotic tissue gets invaded by leukocytes and replaced by air in invasive pulmonary aspergillosis. Other conditions in which air crescent sign can be seen are pulmonary gangrene, pulmonary hematoma, Rasmussen aneurysm in a tuberculous cavity, and lung hydatid. is_a: HP:0031983 ! Abnormal pulmonary thoracic imaging finding property_value: http://purl.org/dc/elements/1.1/date 2019-01-06T10:55:10Z xsd:dateTime created_by: peter [Term] id: HP:0032173 name: Continuous diaphragm sign def: "This sign is seen in pneumomediastinum in which air accumulates between the lower border of the heart and the superior part of the diaphragm, which results in complete visualization of the diaphragm in chest X-ray, hence named continuous diaphragm sign." [PMID:26312141] comment: Normally, the central part of the diaphragm is obscured by the heart, and hence is not seen on chest radiographs. Though this sign is commonly seen in pneumomediastinum, it can occasionally be also seen in pneumopericardium. This sign when seen, is a differential tool between pneumomediastinum and pneumothorax. is_a: HP:0031983 ! Abnormal pulmonary thoracic imaging finding property_value: http://purl.org/dc/elements/1.1/date 2019-01-06T10:59:57Z xsd:dateTime created_by: peter [Term] id: HP:0032174 name: Tree-in-bud pattern def: "The tree-in-bud pattern represents centrilobular branching structures that resemble a budding tree. The pattern reflects a spectrum of endo- and peribronchiolar disorders, including mucoid impaction, inflammation, and/or fibrosis (See Figure 70 of PMID:18195376)." [PMID:18195376] comment: This pattern is most pronounced in the lung periphery and is usually associated with abnormalities of the larger airways. It is particularly common in diffuse panbronchiolitis, endobronchial spread of mycobacterial infection, and cystic fibrosis. A similar pattern is a rare manifestation of arteriolar (microangiopathic) disease. is_a: HP:0031983 ! Abnormal pulmonary thoracic imaging finding property_value: http://purl.org/dc/elements/1.1/date 2019-01-06T11:14:22Z xsd:dateTime created_by: peter [Term] id: HP:0032175 name: Signet ring sign def: "This finding is composed of a ring-shaped opacity representing a dilated bronchus in cross section and a smaller adjacent opacity representing its pulmonary artery, with the combination resembling a signet (or pearl) ring. It is the basic sign of bronchiectasis in pulmonary computed tomography imaging." [PMID:18195376] comment: See Fig 66 of PMID:18195376. is_a: HP:0031983 ! Abnormal pulmonary thoracic imaging finding property_value: http://purl.org/dc/elements/1.1/date 2019-01-06T11:17:24Z xsd:dateTime created_by: peter [Term] id: HP:0032176 name: Apical pulmonary opacity def: "An apical cap is a caplike lesion at the lung apex, usually caused by intrapulmonary and pleural fibrosis pulling down extrapleural fat or possibly by chronic ischemia resulting in hyaline plaque formation on the visceral pleura. The prevalence increases with age. It can also be seen in hematoma resulting from aortic rupture or in other fluid collection associated with infection or tumor, either outside the parietal pleura or loculated within the pleural space." [PMID:18195376, PMID:1994409] comment: The usual appearance is of homogeneous soft-tissue attenuation capping the extreme lung apex (uni- or bilaterally), with a sharp or irregular lower border (See Figure 6 of PMID:18195376). Thickness is variable, ranging up to about 30 mm. An apical cap occasionally mimics apical consolidation on transverse CT scans. synonym: "Apical cap" EXACT [] synonym: "Apical pleural thickening" EXACT [] is_a: HP:0031983 ! Abnormal pulmonary thoracic imaging finding property_value: http://purl.org/dc/elements/1.1/date 2019-01-06T11:20:30Z xsd:dateTime created_by: peter [Term] id: HP:0032177 name: Parenchymal consolidation def: "Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia)." [] comment: In radiographs and CT scans, consolidation appears as a homogeneous increase in pulmonary parenchymal attenuation that obscures the margins of vessels and airway walls (See Figure 19 of PMID:18195376). An air bronchogram may be present. The attenuation characteristics of consolidated lung are only rarely helpful in differential diagnosis (eg, decreased attenuation in lipoid pneumonia and increased in amiodarone toxicity). is_a: HP:0031983 ! Abnormal pulmonary thoracic imaging finding property_value: http://purl.org/dc/elements/1.1/date 2019-01-06T11:25:27Z xsd:dateTime created_by: peter [Term] id: HP:0032178 name: Flaky paint dermatosis def: "A dermatosis characterized by generalized shiny, enamel-like, hyperpigmented scales in an irregular pattern. The scales may peel or desquamate, rather like old, sun-baked blistered paint, often with areas of underlying hypopigmentation. This has led to the terms peeling paint or flaky paint dermatosis (See the Figure in PMID:24285001)." [PMID:1764353, PMID:24285001] comment: Flaky paint dermatosis is a cutaneous manifestations of kwashiorkor. synonym: "Flaky paint skin appearance" EXACT [] is_a: HP:0011121 ! Abnormality of skin morphology property_value: http://purl.org/dc/elements/1.1/date 2019-01-06T13:46:09Z xsd:dateTime created_by: peter [Term] id: HP:0032179 name: Abnormal circulating globulin level def: "An abnormal concentration of globulins in the blood. Albumin makes up more than half of the total protein present in serum. The remaining blood proteins except albumin and fibrinogen (which is not in serum) are referred to as globulins. The globulin fraction includes hundreds of serum proteins including carrier proteins, enzymes, complement, and immunoglobulins. Most of these are synthesized in the liver, although the immunoglobulins are synthesized by plasma cells. Globulins are divided into four groups by electrophoresis. The four fractions are alpha1, alpha2, beta and gamma, depending on their migratory pattern between the anode and the cathode." [] comment: Any increase or decrease in the globulin fraction should be evaluated by serum electrophoresis. The alpha1 fraction consists mainly of alpha1 antitrypsin, which is an acute phase reactant that goes up in acute inflammation. The alpha1 fraction is reduced in congenital alpha1 antitrypsin deficiency. The alpha2 region consists mainly of alpha2 macroglobulin and haptoglobin. The major beta globulin is transferring. Elevations can occur in severe iron deficiency. is_a: HP:0010876 ! Abnormal circulating protein level property_value: http://purl.org/dc/elements/1.1/date 2019-01-06T14:01:21Z xsd:dateTime created_by: peter [Term] id: HP:0032180 name: Abnormal circulating metabolite concentration def: "An abnormal level of an analyte measured in the blood." [] is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: http://purl.org/dc/elements/1.1/date 2019-01-12T13:45:59Z xsd:dateTime created_by: peter [Term] id: HP:0032181 name: Anomalous hepatic venous drainage into the left atrium def: "An abnormality of the hepatic veins, which normally drain de-oxygenated blood from the liver into the inferior vena cava, whereby the hepatic veins drain into the left atrium." [PMID:12556263, PMID:16122505, PMID:20552624] is_a: HP:0006707 ! Abnormality of the hepatic vasculature property_value: http://purl.org/dc/elements/1.1/date 2019-01-12T14:05:06Z xsd:dateTime created_by: peter [Term] id: HP:0032182 name: Abnormal proportion of memory T cells def: "An abnormal proportion of memory T cells compared to the total number of T cells in the blood. Memory T cells have previously encountered and responded to their cognate antigen and upon a repeated encounter with the antigen can mount a faster and stronger response." [PMID:8450264] synonym: "Abnormal proportion of CD4+CD29+ cells" EXACT [] is_a: HP:0025540 ! Abnormal T cell subset distribution property_value: http://purl.org/dc/elements/1.1/date 2019-01-12T14:32:15Z xsd:dateTime created_by: peter [Term] id: HP:0032183 name: Decreased proportion of memory T cells def: "An abnormally reduced proportion of memory T cells compared to the total number of T cells in the blood." [PMID:8450264] synonym: "Decreased proportion of CD4+CD29+ cells" EXACT [] is_a: HP:0032182 ! Abnormal proportion of memory T cells property_value: http://purl.org/dc/elements/1.1/date 2019-01-12T14:35:47Z xsd:dateTime created_by: peter [Term] id: HP:0032184 name: Increased proportion of memory T cells def: "An abnormally elevated proportion of memory T cells compared to the total number of T cells in the blood." [] synonym: "Increased proportion of CD4+CD29+ cells" EXACT [] is_a: HP:0032182 ! Abnormal proportion of memory T cells property_value: http://purl.org/dc/elements/1.1/date 2019-01-12T14:37:08Z xsd:dateTime created_by: peter [Term] id: HP:0032185 name: Disseminated molluscum contagiosum def: "The presense of molluscum contagiosum lesions across multiple areas of the body." [PMID:21894250] comment: Molluscum contagiosum (MC) are very common cutaneous warts caused by molluscum contagiosum virus (MCV), a double-stranded DNA virus of the poxvirus family. The typical clinical presentation consists of small, umbilicated, skin-coloured, pearly papules with predilection of the trunk, axillae, antecubital and popliteal fossae and genital area. Incidence first peaks in pre-school children. In immunocompetent individuals, lesions usually clear spontaneously within several months or years. is_a: HP:0032163 ! Molluscum contagiosum property_value: http://purl.org/dc/elements/1.1/date 2019-01-12T14:58:01Z xsd:dateTime created_by: peter [Term] id: HP:0032186 name: Anal neoplasm def: "A benign or malignant neoplasm that affects the anal canal or anal margin." [NCIT:C2877] is_a: HP:0004378 ! Abnormality of the anus property_value: http://purl.org/dc/elements/1.1/date 2019-01-15T10:13:37Z xsd:dateTime created_by: peter [Term] id: HP:0032187 name: Anal intraepithelial neoplasia def: "Anal intraepithelial neoplasia (AIN) is a premalignant lesion of the anal mucosa that is a precursor to anal cancer." [NCIT:C4595, PMID:28255426] comment: Risk factors for AIN and anal cancer consist of clinical factors and behaviors that are associated with the acquisition and persistence of human papilloma virus (HPV) infection. Anal cancer is defined as cancer arising from the squamous epithelium of the anus, making it distinct from colorectal cancer. The anal canal consists of stratified squamous epithelium originating outside the body and extending into the anus up to the dentate line, the point where it intersects the columnar epithelium of the rectum. Thus, the vast majority of anal cancer is squamous cell carcinoma (SCC), with a small minority consisting of adenocarcinoma or skin cancer variants. Anal cancer is preceded by intraepithelial neoplasia, a premalignant lesion. is_a: HP:0032186 ! Anal neoplasm property_value: http://purl.org/dc/elements/1.1/date 2019-01-15T10:14:28Z xsd:dateTime created_by: peter [Term] id: HP:0032188 name: Cellular hypersensitivity to mitomycin C def: "An increased cellular sensitivity to the DNA cross-linking agent, mitomycin C (MMC). In the presence of increased sensitivity, MMC causes increased cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle." [ORCID:0000-0001-5208-3432, PMID:9650445] comment: Cellular hypersensitivity to mitomycin C is used in diagnostic criteria for Fanconi Anemia. is_a: HP:0003254 ! Abnormality of DNA repair property_value: http://purl.org/dc/elements/1.1/date 2019-01-15T11:19:21Z xsd:dateTime created_by: peter [Term] id: HP:0032189 name: Cellular hypersensitivity to diepoxybutane def: "An increased cellular sensitivity to the DNA cross-linking agent, diepoxybutane (DEB). In the presence of increased sensitivity, DEB causes cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle." [ORCID:0000-0001-5208-3432, PMID:14679584] comment: Cellular hypersensitivity to diepoxybutane is used in diagnostic criteria for Fanconi Anemia. is_a: HP:0003254 ! Abnormality of DNA repair property_value: http://purl.org/dc/elements/1.1/date 2019-01-15T11:20:48Z xsd:dateTime created_by: peter [Term] id: HP:0032190 name: Abnormal meniscus morphology def: "Abnormal structure of the meniscus of the knee, two crescent shape fibrocartilaginous pads that disperse the weight of the body and reduce friction of the knee joint during movement." [PMID:26488288] comment: The meniscus is a fibrocartilaginous structure of the knee joint that enables the even distribution of a weight-bearing load across the articular surfaces. The menisci bear between 40 to 70% of the load across the knee, and the rest of the load is transmitted directly to the articular cartilage. is_a: HP:0002815 ! Abnormality of the knee property_value: http://purl.org/dc/elements/1.1/date 2019-01-15T11:29:05Z xsd:dateTime created_by: peter [Term] id: HP:0032191 name: Torn meniscus def: "A tear in the cartilaginous pad (meniscus) of the knee." [PMID:21126396, PMID:26488288] comment: Not all meniscal injuries require surgery. Some of them have the ability to heal. The meniscal tear pattern and the presence of adequate vascularity are both key points. Tears within 3 mm of the meniscosynovial junction usually have an adequate blood supply that allows healing. Tears of 5 mm or more from this junction are considered avascular and need surgical intervention. is_a: HP:0032190 ! Abnormal meniscus morphology property_value: http://purl.org/dc/elements/1.1/date 2019-01-15T11:31:04Z xsd:dateTime created_by: peter [Term] id: HP:0032192 name: Hydatidiform mole def: "Hydatidiform mole (HM) is an aberrant human pregnancy with absence of, or abnormal embryonic development, hydropic degeneration of chorionic villi, and excessive proliferation of the trophoblast." [PMID:23232697, PMID:26421650] comment: The hydatidiform mole (HM) is a placental pathology of androgenetic origin. Placental villi have an abnormal hyperproliferation event and hydropic degeneration. Three situations can be envisaged at its origin: 1. The destruction/expulsion of the female pronucleus at the time of fertilization by 1 or 2 spermatozoa with the former being followed by an endoreplication of the male pronucleus leading to a complete hydatidiform mole (CHM) 2. A triploid zygote (fertilization by 2 spermatozoa) leading to a partial hydatidiform mole (PHM) but can also lead to haploid and diploid clones. The diploid clone may produce a normal fetus while the haploid clone after endoreplication generates a CHM 3. A nutritional defect during the differentiation of the oocytes or the deterioration of the limited oxygen pressure during the first trimester of gestation may lead to the formation of a HM. is_a: HP:0001194 ! Abnormalities of placenta or umbilical cord property_value: http://purl.org/dc/elements/1.1/date 2019-01-19T12:26:05Z xsd:dateTime created_by: peter [Term] id: HP:0032193 name: Decreased low-density lipoprotein particle size def: "An abnormal decrease in the average size of low-density lipoprotein particle size in the blood circulation." [ORCID:0000-0001-5356-4174, PMID:10417486, PMID:9973300] comment: Elevated levels of low-density lipoprotein (LDL) cholesterol are associated with an increased risk of developing coronary artery disease. LDL particles are the major cholesterol-carrying lipoproteins in the blood circulation, consisting of a hydrophobic core of cholesterol esters and triglycerides surrounded by phospholipds, free cholesterol, and one molecule of apolipoprotein B-100 on the surface of the molecule. The LDL particle population is heterogeneous with the respect to size, density and composition. Distinct subpopulations vary in isoelectric point, electrical charge, hydrodynamic properties and immunoreactivity. is_a: HP:0003107 ! Abnormal circulating cholesterol concentration property_value: http://purl.org/dc/elements/1.1/date 2019-01-19T12:51:21Z xsd:dateTime created_by: peter [Term] id: HP:0032195 name: Abnormal S wave def: "Any anomaly of the S wave, which is the third component of the QRS wave complex. The S wave signifies the final depolarization of the ventricles at the base of the heart." [] is_a: HP:0012249 ! Abnormal ST segment property_value: http://purl.org/dc/elements/1.1/date 2019-01-19T13:30:36Z xsd:dateTime created_by: peter [Term] id: HP:0032196 name: Prominent S wave in lead I def: "Increased amplitude (0.1 mV or more) and/or duration (40 ms or more) of the S wave as measured in lead I of the electrocardiogram." [PMID:27012403] is_a: HP:0032195 ! Abnormal S wave property_value: http://purl.org/dc/elements/1.1/date 2019-01-19T13:32:59Z xsd:dateTime created_by: peter [Term] id: HP:0032197 name: Deep S wave in lead V5 def: "Abnormal depth of the S wave in lead V5 of the electrocardiogram." [PMID:29279530] comment: The S wave refers to the negative deflection after an R wave within the QRS complex. This term refers to an abnormally deep (negative) deflection of the S wave in lead V5. is_a: HP:0032195 ! Abnormal S wave property_value: http://purl.org/dc/elements/1.1/date 2019-01-19T13:39:21Z xsd:dateTime created_by: peter [Term] id: HP:0032198 name: Decreased prothrombin time def: "Abnormally short time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT." [PMID:21470390] synonym: "Decreased INR" EXACT HP:0045077 [] synonym: "Decreased international normalized ratio" EXACT [] synonym: "Decreased PT" EXACT HP:0045077 [] is_a: HP:0032199 ! Abnormal prothrombin time property_value: http://purl.org/dc/elements/1.1/date 2019-01-19T15:32:55Z xsd:dateTime created_by: peter [Term] id: HP:0032199 name: Abnormal prothrombin time def: "Any deviation from the normal amount of time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT." [PMID:29939529] synonym: "Abnormal PT" EXACT HP:0045077 [] is_a: HP:0012200 ! Abnormality of prothrombin property_value: http://purl.org/dc/elements/1.1/date 2019-01-19T15:34:30Z xsd:dateTime created_by: peter [Term] id: HP:0032200 name: Perivascular fibrosis def: "The presence of thick collagen bundles around blood vessels, often in an onion-skin type whorling pattern." [PMID:21502911, PMID:30363608] is_a: HP:0025015 ! Abnormal vascular morphology property_value: http://purl.org/dc/elements/1.1/date 2019-01-20T11:05:59Z xsd:dateTime created_by: peter [Term] id: HP:0032201 name: Rotator cuff tear def: "The term rotator cuff describes the tendons connecting the infraspinatus, supraspinatus, teres minor, and subscapularis muscles to the humeral head.Traumatic tears of the rotator cuff tend to occur at the tendon-bone junction of the supraspinatus and greater tuberosity of the humerus whereas degenerative tears tend to be seen posteriorly at the junction of the supraspinatus and infraspinatu A rotator cuff tear is when one or more of these tendons tears or detaches from the humerus." [PMID:24932450, PMID:29229593] comment: Rotator cuff tears can be caused by injury, overuse, or other causes and may be associated with pain and swelling of the shoulder. is_a: HP:0003043 ! Abnormality of the shoulder is_a: HP:0100261 ! Abnormal tendon morphology property_value: http://purl.org/dc/elements/1.1/date 2019-01-20T11:23:57Z xsd:dateTime created_by: peter [Term] id: HP:0032202 name: Vulvar intraepithelial neoplasia def: "Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognised: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC." [NCIT:C4756, PMID:30187167] is_a: HP:0030416 ! Vulvar neoplasm property_value: http://purl.org/dc/elements/1.1/date 2019-01-20T13:31:43Z xsd:dateTime created_by: peter [Term] id: HP:0032203 name: Lymphoid nodular hyperplasia def: "Lymphoid nodular hyperplasia (LNH) of the terminal ileum and colon has been considered a mucosal response to nonspecific stimuli, most often infections, and consequently has been regarded as a pathophysiologic phenomenon during infancy and childhood. LNH can be ascertained by colonoscopy, whereby a lymphoid nodule is defined as an extruding follicle with a diameter of not more than 2 mm, and LNH is defined as a cluster of not more than 10 of such extruding lymphoid nodules (see Figure 1 of PMID:17368236)." [PMID:10400105, PMID:17368236] comment: The presence of LNH in the mucosa of the colon and/or terminal ileum is a frequent finding (30%) in children undergoing colonoscopy. Unless associated with other endoscopic lesions, LNH is mostly related to a condition of delayed-type food hypersensitivity and affects mainly preschool or school-age children with hematochezia. synonym: "Lymphonodular hyperplasia of the colon" EXACT [] is_a: HP:0002250 ! Abnormal large intestine morphology property_value: http://purl.org/dc/elements/1.1/date 2019-01-20T14:41:25Z xsd:dateTime created_by: peter [Term] id: HP:0032204 name: Chronic active Epstein-Barr virus infection def: "Chronic active Epstein-Barr virus (EBV) infection is an uncommon outcome of EBV infection and may present as a waxing and waning or fulminant syndrome. Unlike acute infectious mononucleosis, wherein EBV establishes lifelong infection and survives by maintaining a delicate balance with the host as a latent infection, in chronic active EBV infection the host-virus balance is disturbed." [] comment: The mechanisms by which an EBV infection becomes chronic active are likely to be heterogenous and may involve host immune factors, viral factors, or both. is_a: HP:0031035 ! Chronic infection property_value: http://purl.org/dc/elements/1.1/date 2019-01-20T15:00:27Z xsd:dateTime created_by: peter [Term] id: HP:0032205 name: Increased circulating galectin-3 level def: "Galectin-3 is a member of the family of beta-galactoside-binding endogenous lectins. It is a multifunctional factor that binds to distinct ligands and tiggers production of matrix metalloproteinases, and thereby plays a role in cardiac fibrosis and remodelling." [PMID:24065222] synonym: "An increased circulation of galectin-3 in the blood circulation." EXACT [] is_a: HP:0010876 ! Abnormal circulating protein level property_value: http://purl.org/dc/elements/1.1/date 2019-01-20T15:21:52Z xsd:dateTime created_by: peter [Term] id: HP:0032207 name: Abnormal cerebrospinal fluid metabolite concentration synonym: "Abnormal CSF metabolite concentration" EXACT HP:0045077 [] is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: http://purl.org/dc/elements/1.1/date 2019-01-20T15:49:06Z xsd:dateTime created_by: peter [Term] id: HP:0032208 name: Increased urinary type 1 collagen N-terminal telopeptide level def: "An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours." [PMID:30572827] comment: Telopeptides are tiny protein particles found particularly in type I collagen that include 15-20 amino acids. Telopeptides bound to the ends of these amino acids are removed from the body through the urine as a result of collagen metabolism. During resorption, amino and carboxyl terminal fragments, called telopeptides, are bound to collagens with cross links and can be released into the circulation and excreted in the urine. Some recent studies have demonstrated that the type 1 collagen N-terminal telopeptide (NTx) level is more specific to bone tissue than any other resorption markers. synonym: "Increased collagen crosslinked N-telopeptide [Moles/volume] in 24 hour urine" EXACT [] synonym: "Increased urine NTx level" EXACT HP:0045077 [] is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: http://purl.org/dc/elements/1.1/date 2019-01-20T16:17:52Z xsd:dateTime created_by: peter [Term] id: HP:0032209 name: Abnormal circulating free T3 concentration def: "A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3." [] synonym: "Abnormal circulating free triiodotyronine concentration" EXACT [] is_a: HP:0031508 ! Abnormal thyroid hormone level property_value: http://purl.org/dc/elements/1.1/date 2019-01-20T20:34:42Z xsd:dateTime created_by: peter [Term] id: HP:0032210 name: Decreased circulating free T3 def: "A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation." [] is_a: HP:0032209 ! Abnormal circulating free T3 concentration property_value: http://purl.org/dc/elements/1.1/date 2019-01-20T20:42:18Z xsd:dateTime created_by: peter [Term] id: HP:0032211 name: Increased urinary epithelial cell count def: "An increased number of epithelial cells per high-power field in urinanalysis." [] comment: There are three types of epithelial cells that are encountered upon urinalysis, sqamous, renal tubular, and transitional. is_a: HP:0012614 ! Abnormal urine cytology property_value: http://purl.org/dc/elements/1.1/date 2019-01-20T21:01:58Z xsd:dateTime created_by: peter [Term] id: HP:0032212 name: Increased urinary sqamous epithelial cell count def: "An increased number of squamous epithelial cells per high-power field in urinanalysis." [PMID:26782662] comment: Sqamous epithelial cells may indicate contamination of the urine sample and are a poor predictor of urine culture contamination, is_a: HP:0032211 ! Increased urinary epithelial cell count property_value: http://purl.org/dc/elements/1.1/date 2019-01-20T21:04:12Z xsd:dateTime created_by: peter [Term] id: HP:0032213 name: Increased urinary renal tubular epithelial cell count def: "An increased number of renal tubular epithelial cells per high-power field in urinanalysis." [] is_a: HP:0032211 ! Increased urinary epithelial cell count property_value: http://purl.org/dc/elements/1.1/date 2019-01-20T21:05:55Z xsd:dateTime created_by: peter [Term] id: HP:0032214 name: Increased urinary transitional epithelial cell count def: "An increased number of transitional epithelial cells per high-power field in urinanalysis." [] comment: Transitional epithelial cells can be found in urinary tract starting from the renal pelvis down the ureters to the bladder and the proximal urethra. is_a: HP:0032211 ! Increased urinary epithelial cell count property_value: http://purl.org/dc/elements/1.1/date 2019-01-20T21:07:33Z xsd:dateTime created_by: peter [Term] id: HP:0032215 name: Disseminated cutaneous warts def: "Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities." [PMID:29730845] is_a: HP:0200043 ! Verrucae property_value: http://purl.org/dc/elements/1.1/date 2019-01-20T21:19:28Z xsd:dateTime created_by: peter [Term] id: HP:0032216 name: Lymphocytic infiltration of the colorectal mucosa def: "Abnormally increased intraepithelial lymphocyte count. This finding may be appreciated as large numbers of surface intraepithelial lymphocytes as seen (for instance) with hematoxylin and eosin staining of a colonic biopsy sample taken during colonoscopy." [PMID:9824342] is_a: HP:0025090 ! Abnormal large intestinal mucosa morphology property_value: http://purl.org/dc/elements/1.1/date 2019-01-21T00:37:22Z xsd:dateTime created_by: peter [Term] id: HP:0032217 name: Indurated nodule def: "A skin nodule that is unusually hard (indurated)." [PMID:16252032, PMID:23006954] is_a: HP:0200036 ! Skin nodule property_value: http://purl.org/dc/elements/1.1/date 2019-01-21T00:45:22Z xsd:dateTime created_by: peter [Term] id: HP:0032218 name: Reduced proportion of CD4 T cells def: "A reduction in the proportion of CD4 T cells relative to the total number of T cells." [] is_a: HP:0031392 ! Abnormal proportion of CD4 T cells property_value: http://purl.org/dc/elements/1.1/date 2019-01-21T00:48:24Z xsd:dateTime created_by: peter [Term] id: HP:0032219 name: Increased proportion of CD4 T cells def: "An elevation in the proportion of CD4 T cells relative to the total number of T cells." [] is_a: HP:0031392 ! Abnormal proportion of CD4 T cells property_value: http://purl.org/dc/elements/1.1/date 2019-01-21T00:48:54Z xsd:dateTime created_by: peter [Term] id: HP:0032220 name: Interface hepatitis def: "Inflammation of the liver characterized by a mononuclear cell infiltrate whereby portal inflammatory cells extend through the limiting plate between the portal tract and liver parenchyma." [] is_a: HP:0012115 ! Hepatitis property_value: http://purl.org/dc/elements/1.1/date 2019-01-21T01:12:37Z xsd:dateTime created_by: peter [Term] id: HP:0032221 name: Periportal emperipolesis def: "The engulfing of lymphocytes by hepatocytes, which typically occurs in the interface hepatitis area." [PMID:25654060, PMID:9420892] comment: Emperipolesis is derived from the Greek (em-inside; peri-around; polemai-wander about) and is as the active penetration of one cell by another which remains intact. It differs from phagocytosis in that an engulfed cell exists temporarily within another cell and with an intact normal structure while in phagocytosis, the engulfed cell is destroyed by the protective action of lysosomal enzymes. is_a: HP:0030146 ! Abnormal liver parenchyma morphology property_value: http://purl.org/dc/elements/1.1/date 2019-01-21T01:20:50Z xsd:dateTime created_by: peter [Term] id: HP:0032222 name: Serrated intestinal polyps def: "The presence of multiple serrated polyps in the intestine. Unlike conventional adenomas, which are uniformly dysplastic, the vast majority of serrated lesions contain no dysplasia. The serrated class includes the hyperplastic polyps, which are not considered precancerous; sessile serrated polyps (also called sessile serrated adenomas); and traditional serrated adenomas. Sessile serrated polyps are larger on average and more often located in the proximal colon. Sessile serrated polyps have a more irregular surface, a pattern to the surface that has been called cloudlike, and indistinct edges compared with hyperplastic polyps. Sessile serrated polyps also have large open pits on the surface (type O pits) when viewed with magnification." [NCIT:C96470, PMID:27540339] synonym: "Serrated polyposis" RELATED [] is_a: HP:0200008 ! Intestinal polyposis property_value: http://purl.org/dc/elements/1.1/date 2019-01-21T01:40:27Z xsd:dateTime created_by: peter [Term] id: HP:0032223 name: Blood group def: "Any of the various types of human blood whose antigen characteristics determine compatibility in transfusion. While the ABO and Rhesus sytems are the most well known, there are in total about 300 different blood type antigens distributed across 34 different blood type systems." [PMID:26085552] comment: At present, there are 34 blood group systems recognized by the International Society for Blood Transfusion. is_a: HP:0000001 ! All property_value: http://purl.org/dc/elements/1.1/date 2019-01-24T11:33:51Z xsd:dateTime created_by: peter [Term] id: HP:0032224 name: ABO blood group def: "The ABO system consists of A and B antigens and antibodies against these antigens." [PMID:15373665, PMID:26085552] comment: The ABO histo-blood group consists of two antigens (A and B antigens) and four blood types (types A, B, AB, and O). The A and B antigens are the product of the ABO gene and are autosomal codominant. The group O phenotype is an autosomal-recessive phenotype due to the homozygous inheritance of two null ABO alleles. Group O individuals express the H antigen, the biosynthetic precursor to A and B antigens. ABO, therefore, is the blood type, whereas A, B, and H refer to the antigens. is_a: HP:0032223 ! Blood group property_value: http://purl.org/dc/elements/1.1/date 2019-01-24T11:40:47Z xsd:dateTime created_by: peter [Term] id: HP:0032225 name: Perifollicular fibroma def: "Perifollicular fibroma is a rare cutaneous hamartoma that shows differentiation in the connective tissue sheath of hair follicles. It can occur as a solitary papule or as multiple lesions. Histologically, the lesion consists of a concentric arrangement of cellular fibrous tissue around a normal hair follicle." [PMID:21747629] comment: Multiple Perifollicular fibroma (PFF) lesions have been linked to adenomatous colonic polyps and they may be inherited as an autosomal dominant trait. Most reports have described multiple PFF lesions involving the scalp. is_a: HP:0008069 ! Neoplasm of the skin property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T14:14:55Z xsd:dateTime created_by: peter [Term] id: HP:0032226 name: Abnormal sebaceous gland morphology def: "Any structural anomaly of the sebaceous glands." [PMID:17975220] comment: Sebaceous glands are found all over the human body except on the palms of the hands and soles of the feet. The glands are numerous on the face and scalp and are sparse in areas such as the back. They can number as many as 400-900 glands/cm2 on the face. Sebaceous glands are usually found in association with a hair follicle, which, together, is referred to as a pilosebaceous unit. The sebaceous gland is located in association with the upper portion of the hair follicle, where it is not affected by the hair cycle. Sebaceous glands can be unilobular or multilobular. Although a majority of sebaceous glands are part of a pilosebaceous unit, some glands can be found without an associated hair follicle. Sebaceous glands secrete sebum, which contains cholesterol, cholesteryl esters, squalene, fatty acids, diglycerides and triglycerides, and wax esters. is_a: HP:0011138 ! Abnormality of skin adnexa morphology property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T14:26:26Z xsd:dateTime created_by: peter [Term] id: HP:0032227 name: Sebaceous hyperplasia def: "A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elswehere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola." [PMID:24759166] is_a: HP:0032226 ! Abnormal sebaceous gland morphology property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T14:30:41Z xsd:dateTime created_by: peter [Term] id: HP:0032228 name: Trichodiscoma def: "A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion." [NCIT:C43333, PMID:10522666] comment: In contrast to trichodiscoma, fibrofolliculoma shows a keratin-plugged and often distorted hair follicle in the center of the lesion. A mantle of mucoid or fibrous stroma surrounds this central follicle; thin epithelial strands emerge from the central follicle and may form a netlike pattern. is_a: HP:0012842 ! Skin appendage neoplasm property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T14:38:09Z xsd:dateTime created_by: peter [Term] id: HP:0032229 name: Perinuclear antineutrophil antibody positivity def: "The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils." [ORCID:0000-0002-7440-8864, PMID:24854381, PMID:27481040, PMID:28661185] synonym: "p-ANCA positivity" EXACT HP:0045077 [] is_a: HP:0003453 ! Antineutrophil antibody positivity property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T14:41:19Z xsd:dateTime created_by: peter [Term] id: HP:0032230 name: Cytoplasmic antineutrophil antibody positivity def: "The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils." [ORCID:0000-0002-7440-8864, PMID:24854381, PMID:27481040, PMID:28661185] is_a: HP:0003453 ! Antineutrophil antibody positivity property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T14:43:56Z xsd:dateTime created_by: peter [Term] id: HP:0032231 name: Hypochromia def: "A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells." [] is_a: HP:0001903 ! Anemia property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T14:52:08Z xsd:dateTime created_by: peter [Term] id: HP:0032232 name: Increased circulating creatine kinase MB isoform def: "An increased concentration of the MB isoform of creatine kinase in the blood circulation." [PMID:21448658] comment: All CK isoforms are encoded by separate nuclear genes and, in most tissues, a single cytosolic CK isoform is co-expressed together with a single mitochondrial CK isoform (mtCK). Cytosolic muscle-type CK (M-CK) and brain-type CK (B-CK) form homodimers or heterodimers, e.g. MM-CK in skeletal muscle, MM, MB and BB-CK in heart, or BB-CK in brain, kidney, spermatozoa, skin and many other tissues. MtCK is situated in the outer mitochondrial compartment and occurs as sarcomeric mtCK (smtCK) expressed mainly in muscle tissue and as ubiquitous mtCK (umtCK) expressed in a large number of other cells and tissues. CK-MB levels can rise upon myocardial injury, CK-MM rises upon skeletal muscle damage, and CK-BB can rise with brain injury. synonym: "Increased circulating CK MB isoform" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] is_a: HP:0040081 ! Abnormal circulating creatine kinase concentration property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T17:05:00Z xsd:dateTime created_by: peter [Term] id: HP:0032233 name: Increased circulating creatine kinase BB isoform def: "An increased concentration of the BB isoform of creatine kinase in the blood circulation." [PMID:21448658] comment: All CK isoforms are encoded by separate nuclear genes and, in most tissues, a single cytosolic CK isoform is co-expressed together with a single mitochondrial CK isoform (mtCK). Cytosolic muscle-type CK (M-CK) and brain-type CK (B-CK) form homodimers or heterodimers, e.g. MM-CK in skeletal muscle, MM, MB and BB-CK in heart, or BB-CK in brain, kidney, spermatozoa, skin and many other tissues. MtCK is situated in the outer mitochondrial compartment and occurs as sarcomeric mtCK (smtCK) expressed mainly in muscle tissue and as ubiquitous mtCK (umtCK) expressed in a large number of other cells and tissues. CK-MB levels can rise upon myocardial injury, CK-MM rises upon skeletal muscle damage, and CK-BB can rise with brain injury. synonym: "Increased circulating CK BB isoform" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] is_a: HP:0040081 ! Abnormal circulating creatine kinase concentration property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T17:11:51Z xsd:dateTime created_by: peter [Term] id: HP:0032234 name: Increased circulating creatine kinase MM isoform def: "An increased concentration of the MM isoform of creatine kinase in the blood circulation." [PMID:21448658] comment: All CK isoforms are encoded by separate nuclear genes and, in most tissues, a single cytosolic CK isoform is co-expressed together with a single mitochondrial CK isoform (mtCK). Cytosolic muscle-type CK (M-CK) and brain-type CK (B-CK) form homodimers or heterodimers, e.g. MM-CK in skeletal muscle, MM, MB and BB-CK in heart, or BB-CK in brain, kidney, spermatozoa, skin and many other tissues. MtCK is situated in the outer mitochondrial compartment and occurs as sarcomeric mtCK (smtCK) expressed mainly in muscle tissue and as ubiquitous mtCK (umtCK) expressed in a large number of other cells and tissues. CK-MB levels can rise upon myocardial injury, CK-MM rises upon skeletal muscle damage, and CK-BB can rise with brain injury. synonym: "Increased circulating CK MM isoform" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] is_a: HP:0040081 ! Abnormal circulating creatine kinase concentration property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T17:12:03Z xsd:dateTime created_by: peter [Term] id: HP:0032235 name: Anti-La/SSA antibody positivity def: "The presence of autoantibodies (immunoglobulins) in the serum that react against the La/Sjogrens syndrome antigen." [PMID:27431345] comment: Anti-Ro/SSA and anti-La/SSB are considered hallmarks of Sjogrens syndrome and are associated with systemic disease, but are also present in the sera of systemic lupus erythematodes patients. The most common antinuclear antibodies in Sjogren patients are those directed against the autoantigens Ro/SSA and La/SSB. The Ro/La particle is a protein-RNA complex formed by the association of the Ro60, and La/SSB proteins with small cytoplasmic RNA (hyRNA). Anti-Ro/SSA and anti-La/SSB antibodies are detected in 50 to 70 percent of primary Sjogren patients. Anti-Ro/SSA and anti-La/SSB antibodies are correlated with younger age at diagnosis, longer disease duration, more severe dysfunction of the exocrine glands, recurrent parotid gland enlargement and higher intensity of the lymphocytic infiltrates in the minor salivary glands. is_a: HP:0030057 ! Autoimmune antibody positivity property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T17:16:04Z xsd:dateTime created_by: peter [Term] id: HP:0032236 name: Increased circulating immature neutrophil count def: "An abnormally increased number of immature neutrophils in the peripheral blood circulation." [PMID:25887201] comment: Various forms of immature neutrophils appear during granulopoiesis in the bone marrow. A seven day mitotic stage (myeloblast to promyelocyte to myelocyte) is followed by a seven day maturation stage (myelocyte to metamyelocyte to band cell to mature segmented neutrophil). Mature neutrophils are normally held in storage pools in the bone marrow before their entry into the circulation. is_a: HP:0011991 ! Abnormal neutrophil count property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T17:21:30Z xsd:dateTime created_by: peter [Term] id: HP:0032237 name: Increased circulating myelocyte count def: "An abnormally increased number of myelocytes in the peripheral blood circulation. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and seconday granules, and a nucleus:cytoplasm ratio of 2:1." [PMID:25887201] is_a: HP:0032236 ! Increased circulating immature neutrophil count property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T17:25:19Z xsd:dateTime created_by: peter [Term] id: HP:0032238 name: Increased circulating metamyelocyte count def: "An abnormally increased number of metamyelocytes in the peripheral blood circulation. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with seconday granules, and a nucleus:cytoplasm ratio of 1.5:1." [PMID:25887201] is_a: HP:0032236 ! Increased circulating immature neutrophil count property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T17:27:06Z xsd:dateTime created_by: peter [Term] id: HP:0032239 name: Increased circulating band cell count def: "An abnormally increased number of band cells in the peripheral blood circulation. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small seconday granules, and a nucleus:cytoplasm ratio of 1:2." [PMID:25887201] synonym: "Increased circulating band form neutrophils" EXACT [] synonym: "Left shift" EXACT [] is_a: HP:0032236 ! Increased circulating immature neutrophil count property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T17:28:36Z xsd:dateTime created_by: peter [Term] id: HP:0032240 name: Elevated circulating E selectin level def: "An increased concentration of E selectin in the blood circulation." [PMID:12591072] is_a: HP:0010876 ! Abnormal circulating protein level property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T19:35:17Z xsd:dateTime created_by: peter [Term] id: HP:0032241 name: Cervical neoplasm def: "A tumor (abnormal growth of tissue) of the uterine cervix." [NCIT:C2940] is_a: HP:0012888 ! Abnormality of the uterine cervix property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T19:47:41Z xsd:dateTime created_by: peter [Term] id: HP:0032242 name: Cervical intraepithelial neoplasia def: "A precancerous condition characterized by dysplasia of the cervical epithelium. Cervical intraepithelial neoplasia (CIN) 1, 2 and 3 based on its relationship with the prognosis. CIN 1 is mild dysplasia, which is mostly observed because it disappears as part of its natural course. CIN 3 includes severe dysplasia and carcinoma in situ, and management involves treatment because it is highly likely to develop into invasive cancer." [PMID:28453530] is_a: HP:0032241 ! Cervical neoplasm property_value: http://purl.org/dc/elements/1.1/date 2019-01-26T19:49:11Z xsd:dateTime created_by: peter [Term] id: HP:0032243 name: Abnormal tissue metabolite concentration def: "Any deviation from the normal concentration of a metabolite in a tissue." [] is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T11:56:39Z xsd:dateTime created_by: peter [Term] id: HP:0032244 name: Decreased serum thromboxane B2 def: "A reduction in the concentration of thromboxane B2 in the blood circulation." [PMID:6101498] is_a: HP:0030389 ! Abnormal circulating thromboxane concentration property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T12:14:04Z xsd:dateTime created_by: peter [Term] id: HP:0032245 name: Abnormal metabolism def: "An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products." [] is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T12:48:52Z xsd:dateTime created_by: peter [Term] id: HP:0032247 name: Persistent CMV viremia def: "Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation." [PMID:28130404] comment: Persistent CMV infection has important clinical relevance in the global population. Although immune-mediated control of CMV in healthy individuals prevents disease and overt clinical symptoms, immune dysregulation caused by immunosuppressive treatments in transplant and cancer patients, congenital immunodeficiencies, HIV/AIDS, and/or aging can result in CMV viremia, life threatening disease, and even death. is_a: HP:0032248 ! Persistent viremia property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T13:32:28Z xsd:dateTime created_by: peter [Term] id: HP:0032248 name: Persistent viremia def: "Persistence of virus in the blood circulation longer than would be normal in an immunocompentent host." [] is_a: HP:0020071 ! Viremia is_a: HP:0032169 ! Severe infection property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T13:36:30Z xsd:dateTime created_by: peter [Term] id: HP:0032249 name: Coccidioidomycosis def: "Infection by a Coccidioides species fungus. These are dimorphic, soil-dwelling, fungi known to cause a broad spectrum of disease, ranging from a mild febrile illness to severe pulmonary manifestations or disseminated disease. The genus Coccidioides is comprised of two genetically distinct species: Coccidioides immitis and C. posadasii." [PMID:23843703] comment: Persons with immunodeficiency diseases, diabetics, transplant recipients, and prisoners are also particularly vulnerable to infection by Coccidioides. synonym: "Valley fever" EXACT [] is_a: HP:0032255 ! Opportunistic fungal infection property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T13:37:54Z xsd:dateTime created_by: peter [Term] id: HP:0032250 name: Acinetobacter infection def: "An infection by Acinetobacter baumannii, a Gram-negative bacillus that is aerobic, pleomorphic and non-motile. An opportunistic pathogen, A. baumannii has a high incidence among immunocompromised individuals, particularly those who have experienced a prolonged (over 90 d) hospital stay." [PMID:22546906] is_a: HP:0032260 ! Opportunistic bacterial infection property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T16:38:23Z xsd:dateTime created_by: peter [Term] id: HP:0032251 name: Abnormal immune system morphology is_a: HP:0002715 ! Abnormality of the immune system property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T16:44:33Z xsd:dateTime created_by: peter [Term] id: HP:0032252 name: Granuloma def: "A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis." [PMID:10908370, PMID:11168676, PMID:937513] comment: Granulomas vary considerably in their degree of complexity, physical size and organization. Not surprisingly, their classification has attracted much attention, and a numbers of schemes have been described. The cornerstone of the granulomatous response, however, is the predominant involvement of mononuclear phagocytes. As granulomas develop, tissue-resident, as well as inflammatory mononuclear phagocytes become intimately acquainted, and these cells may develop highly differentiated epithelioid cell characteristics. In many cases, elegant multinucleate populations can be seen, distinct from the syncytia formed after viral infection as evident by their extended life-span. Accumulating lymphocytes, mainly T cells, contribute to the developing microarchitecture of the granuloma, often with characteristic patterns of subset organization relative to the core of mononuclear phagocytes and to each other. B lymphocytes, plasma cells, NK cells and neutrophils may all be present, though a relative paucity of neutrophils delineates these sites of inflammation from those associated with necrosis. At its extreme, the granuloma may serve as the focus for irreversible fibrotic reactions, but, even in less dramatic cases, a substantive degree of local tissue remodelling occurs. is_a: HP:0032251 ! Abnormal immune system morphology property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T16:44:42Z xsd:dateTime created_by: peter [Term] id: HP:0032253 name: Eosinophilic granuloma def: "A type of granuloma characterized morphologically by the predominance of Langerhans cells with characteristic grooved, folded, indented nuclei in the appropriate milieu that includes variable numbers of eosinophils and histiocytes including multinucleated forms, often appearing similar to osteoclasts or touton like giant cells, neutrophils and small lymphocytes. The concentration of the eosinophilic infiltrate varies from scattered mature cells to sheet-like masses of cells. Occasionally, areas of bone necrosis may interrupt the cellular infiltrate. The foamy cells may also be amassed in clumps, which are of no clinical significance because these clumps represent phagocytosis of lipid debris." [PMID:21938183] comment: Eosinophilic granuloma (EG) is a benign disorder that affects children and young adults, particularly males. Solitary EG accounts for the majority of Langerhans cell histiocytosis cases, usually involving bone and less commonly the lymph nodes, lung or skin. is_a: HP:0032252 ! Granuloma property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T16:50:48Z xsd:dateTime created_by: peter [Term] id: HP:0032254 name: Increased circulating copper concentration def: "An abnormally elevated concentration of copper in the blood circulation. This term refers to the total copper concentration." [] synonym: "Elevated serum copper" EXACT [] synonym: "Hypercupremia" EXACT [] is_a: HP:0010836 ! Abnormal circulating copper concentration property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T17:13:31Z xsd:dateTime created_by: peter [Term] id: HP:0032255 name: Opportunistic fungal infection def: "An infection that is caused by a fungus that would generally not be able to cause an infection in a host with a normal immune system. Such fungi take advantage of the opportunity, so to speak, that is provided by a weakened immune system." [] is_a: HP:0020100 ! Unusual fungal infection is_a: HP:0031690 ! Opportunistic infection property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T18:09:57Z xsd:dateTime created_by: peter [Term] id: HP:0032256 name: Histoplamsosis def: "Histoplasmosis is caused by the fungus Histoplasma capsulatum and is consider to be an opportunistic infection in immunosuppressed persons." [PMID:26897068, PMID:30619685] comment: Most patients exhibit pulmonary signs and symptoms, accompanied by radiographic abnormalities, which often are mistaken for community-acquired pneumonia caused by bacterial or viral agents. Most of the infected individuals remain asymptomatic or have very mild illness that does not get diagnosed as histoplasmosis. Significant symptoms develop in less than 1% of patients and most frequently present as pulmonary or disseminated histoplasmosis. Immunocompromised individuals, including patients with AIDS, hematologic malignancies, transplant recipients, and patients receiving prolonged steroids, are at higher risk of developing acute disseminated disease with a rapid and aggressive course. is_a: HP:0032255 ! Opportunistic fungal infection property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T18:10:09Z xsd:dateTime created_by: peter [Term] id: HP:0032257 name: Disseminated histoplasmosis def: "Histoplasmosis infection involving multiple sites of the body. Disseminated histoplasmosis can involve various organs, including reticuloendothelial organs, gastrointestinal tract, adrenal glands, central nervous system, endovascular structures, kidney, and skin. It typically presents with systemic symptoms like fever, generalized fatigue, night sweats, weight loss, and the symptoms related to the specific organ involved. Severe disseminated disease can manifest as septic shock, multi organ failure, and ARDS." [PMID:30619685] is_a: HP:0032256 ! Histoplamsosis property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T18:15:01Z xsd:dateTime created_by: peter [Term] id: HP:0032258 name: Pulmonary histoplasmosis def: "Infection of the lungs with Histoplasma capsulatum. Symptoms may include fever, headache, weakness, chest pain and dry cough. When imaging is done, chest radiographs may show patchy pneumonia involving one or more lobes with adenopathy of the mediastinum or hilum." [PMID:21810958] is_a: HP:0032256 ! Histoplamsosis property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T18:17:55Z xsd:dateTime created_by: peter [Term] id: HP:0032259 name: Chronic tinea infection def: "The term tinea means fungal infection, whereas dermatophyte refers to the fungal organisms that cause tinea. This term refers to a tinea infection that is chronic or recalcitrant to treatment and may be reflective of an immune defect." [PMID:25403034] comment: Tinea is usually followed by a Latin term that designates the involved site, such as tinea corporis and tinea pedis. Tinea versicolor (now called pityriasis versicolor) is not caused by dermatophytes but rather by yeasts of the genus Malassezia. Tinea unguium is more commonly known as onychomycosis. Dermatophytes are usually limited to involvement of hair, nails, and stratum corneum, which are inhospitable to other infectious agents. Dermatophytes include three genera: Trichophyton, Microsporum, and Epidermophyton. is_a: HP:0031035 ! Chronic infection property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T18:30:04Z xsd:dateTime created_by: peter [Term] id: HP:0032260 name: Opportunistic bacterial infection def: "An infection that is caused by a bacterium that would generally not be able to cause an infection in a host with a normal immune system. Such bacteria take advantage of the opportunity, so to speak, that is provided by a weakened immune system." [] is_a: HP:0031690 ! Opportunistic infection property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T18:37:49Z xsd:dateTime created_by: peter [Term] id: HP:0032261 name: Nontuberculous mycobacterial pulmonary infection def: "An infection of the lung caused by environmental mycobacteria. SUch infections can occur in individuals with predisposing lung disease or immune disease." [PMID:24624285, PMID:7472715] comment: Historically, human infections due to Mycobacterium were due almost exclusively to Mycobacterium tuberculosis (TB); the extensive societal impact of this infection is legendary. More recently, other species of mycobacterium causing clinical disease have been identified and, in many geographical regions, cause greater disease burden than TB. These organisms are referred to by a variety of collective names such as anonymous or atypical mycobacteria, mycobacteria other than tuberculosis (MOTT) and nontuberculous mycobacteria (NTM). is_a: HP:0032260 ! Opportunistic bacterial infection property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T18:38:45Z xsd:dateTime created_by: peter [Term] id: HP:0032262 name: Pulmonary tuberculosis def: "A lung infection by Mycobacterium tuberculosis a slightly curved non-motile, aerobic, non-capsulated and non-spore forming strains of mycobacteria." [PMID:30345099] comment: Predisposing factors include poverty, social disruption, malnutrition, different causes of immune suppression, human immunodeficiency virus (HIV) infection, HIV-TB co-infection and increasing drug resistance. synonym: "Pulmonary TB" EXACT HP:0045077 [] is_a: HP:0032260 ! Opportunistic bacterial infection property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T19:04:54Z xsd:dateTime created_by: peter [Term] id: HP:0032263 name: Increased blood pressure def: "Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension." [PMID:9137951] synonym: "Increased BP" EXACT HP:0045077 [] is_a: HP:0030972 ! Abnormal systemic blood pressure property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T20:07:59Z xsd:dateTime created_by: peter [Term] id: HP:0032264 name: Anti-NMDA receptor antibody positivity def: "The presence of autoantibodies (immunoglobulins) in the serum that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor." [PMID:24729779] synonym: "Presence of anti-N-methyl-D-aspartate Receptor antibody in blood" EXACT [] synonym: "Presence of anti-NMDAR antibody in blood" EXACT [] is_a: HP:0030057 ! Autoimmune antibody positivity property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T20:12:00Z xsd:dateTime created_by: peter [Term] id: HP:0032265 name: CSF autoimmune antibody positivity def: "The presence of an antibody in the cerebrospinal fluid (CSF) that is directed against the organism's own cells or tissues." [] synonym: "Cerebrospinal fluid autoimmune antibody positivity" EXACT [] is_a: HP:0002960 ! Autoimmunity property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T20:13:27Z xsd:dateTime created_by: peter [Term] id: HP:0032266 name: CSF anti-NMDA receptor antibody positivity def: "The presence of autoantibodies (immunoglobulins) in the cerebrospinal fluid (CSF) that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor." [PMID:29651625] synonym: "Presence of anti-N-methyl-D-aspartate Receptor antibody in CSF" EXACT [] synonym: "Presence of anti-NMDAR antibody in cerebrospinal fluid" EXACT [] synonym: "Presence of NMDAR antibody in CSF" EXACT [] is_a: HP:0032265 ! CSF autoimmune antibody positivity property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T20:14:16Z xsd:dateTime created_by: peter [Term] id: HP:0032267 name: Empty delta sign def: "This sign is created by a nonenhancing thrombus in the dural sinus surrounded by triangular enhancing dura as seen on cross-section. The sign, seen on contrast-enhanced CT scan images, suggests dural sinovenous thrombosis. It is best seen on wider window settings. It is a reliable sign of sinus thrombosis but is seen only in 25-30% of these cases." [PMID:19881070] comment: The use of multislice contrast-enhanced CT scan, with reconstructions into thinner slices in different planes, markedly improves the yield. The sign may not be seen in the early stage (less than 5 days) of thrombosis, as the fresh clot is hyperdense, or in the late stage (after more than 2 months), as numerous channels of recanalization develop in the thrombus after 2 months. is_a: HP:0010303 ! Abnormal spinal meningeal morphology property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T20:21:18Z xsd:dateTime created_by: peter [Term] id: HP:0032268 name: Dural tail sign def: "This sign represents thickening and enhancement of the dura mater in continuity with a mass, which on MR images, gives the appearance of a tail arising from the mass. The dural tail is thought to represent reactive change; however, it may also be due to tumor invasion. Three criteria need to be met for a positive dural tail sign: the tail should be seen on two successive images through the tumor, it should taper away from the tumor, and it must enhance more than the tumor." [PMID:19881070] comment: This sign has been traditionally considered as highly specific for meningioma. However, it is seen only in 60% of meningiomas and has also been reported in nonmeningiomatous lesions such as chloromas, primary CNS lymphomas, sarcoidosis, schwannomas, metastases, and syphilitic gummata. is_a: HP:0010303 ! Abnormal spinal meningeal morphology property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T20:24:27Z xsd:dateTime created_by: peter [Term] id: HP:0032269 name: Lemon sign comment: This sign represents the loss of the normal convex contour of the frontal bones, with flattening or inward scalloping, seen on a transverse fetal sonogram obtained at the biparietal diameter level. It has a strong association with spina bifida and is very useful for detecting this condition before 24 weeks of gestation in high-risk patients. It has high sensitivity and specificity. The lemon sign may disappear as gestational age advances and hence it is less reliable after 24 weeks. The sign is not specific for spina bifida and has also been seen in encephalocele, Dandy-Walker malformation with encephalocele, thanatophoric dysplasia, cystic hygroma, diaphragmatic hernia, corpus callosal agenesis, hydronephrosis, and umbilical vein varix. is_a: HP:0001197 ! Abnormality of prenatal development or birth property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T20:27:13Z xsd:dateTime created_by: peter [Term] id: HP:0032270 name: Optic nerve tram-track sign def: "A tram-track sign is composed of two enhancing areas of tumor separated from each other by the negative defect of the optic nerve. It is seen on contrast-enhanced CT scan and MRI images, in optic nerve sheath meningioma. The sign helps distinguish between optic nerve sheath meningioma and optic glioma. Optic glioma arises from glial cells within the optic nerve and there is no clear separation between the nerve and the tumor; hence the tram-track sign is not seen in optic gliomas. Calcification may be seen in optic nerve sheath meningiomas in 20-50% of cases and hence the tram-track sign may be seen on nonenhanced CT scan images as a linear calcification around the nerve, but this is less common." [PMID:19881070] is_a: HP:0000587 ! Abnormality of the optic nerve property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T20:29:14Z xsd:dateTime created_by: peter [Term] id: HP:0032271 name: Extrapulmonary tuberculosis def: "A type of tubercular infection located outside of the lung, which is the most common location of tuberculosis. There are two types of clinical manifestation of tuberculosis (TB) are pulmonary TB (PTB) and extrapulmonary TB (EPTB). The former is most common. EPTB refers to TB involving organs other than the lungs (e.g., pleura, lymph nodes, abdomen, genitourinary tract, skin, joints and bones, or meninges). A patient with both pulmonary and EPTB is classified as a case of PTB." [PMID:16300038, PMID:25861336] comment: Extrapulmonary involvement can be seen in patients with concurrent AIDS and tuberculosis. The risk of extrapulmonary tuberculosis and mycobacteremia increases with advancing immunosuppression. synonym: "Extrapulmonary TB" EXACT HP:0045077 [] is_a: HP:0032260 ! Opportunistic bacterial infection property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T20:39:11Z xsd:dateTime created_by: peter [Term] id: HP:0032272 name: Elevated urinary N-acetylaspartic acid level def: "Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry." [PMID:8412017] comment: Although NAA concentration is also elevated in the blood and cerebrospinal fluid (CSF) of children with neonatal/infantile (severe) Canavan disease, elevated concentration of NAA in urine is sufficient for diagnosis of affected individuals. is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T21:01:43Z xsd:dateTime created_by: peter [Term] id: HP:0032273 name: Increased circulating N-Acetylaspartic acid concentration def: "An abnormally increased concentration of N-Acetylaspartic acid in the blood circulation." [PMID:8412017] synonym: "Increased circulating N-acetyl aspartate level" EXACT [] synonym: "Increased circulating N-acetyl aspartic acid level" EXACT [] synonym: "Increased circulating N-acetyl-L-aspartic acid level" EXACT [] synonym: "Increased circulating N-acetylaspartate level" EXACT [] synonym: "Increased circulating NAA level" EXACT [] is_a: HP:0010899 ! Abnormal circulating aspartate family amino acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T21:06:29Z xsd:dateTime created_by: peter [Term] id: HP:0032274 name: Increased CSF N-Acetylaspartic acid concentration def: "An abnormally increased concentration of N-Acetylaspartic acid in the cerebrospinal fluid (CSF)." [PMID:8412017] synonym: "Increased N-acetyl aspartate levels in CSF" EXACT [] synonym: "Increased N-acetyl aspartic acid levels in CSF" EXACT [] synonym: "Increased N-acetyl-L-aspartic acid levels in CSF" EXACT [] synonym: "Increased N-acetylaspartate levels in CSF" EXACT [] synonym: "Increased NAA levels in CSF" EXACT [] is_a: HP:0032207 ! Abnormal cerebrospinal fluid metabolite concentration property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T21:07:45Z xsd:dateTime created_by: peter [Term] id: HP:0032275 name: Recurrent shingles def: "Repeated episodes of a localized, painful cutaneous eruption related to reactivation of varicella zoster virus (VZV) and characterized by a characteristic rash in one or two adjacent dermatomes." [PMID:24113666] is_a: HP:0005353 ! Recurrent herpes property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T21:15:51Z xsd:dateTime created_by: peter [Term] id: HP:0032276 name: Prominent subcalcaneal fat pad def: "Abnormally increased prominence of the fat pad underneath the heal. This feature can be appreciated in figure 1 of PMID:26769062." [PMID:26769062] comment: This pad normally protects the foot against the forces to which it is exposed during the ground contact phase of each step. is_a: HP:0001760 ! Abnormality of the foot property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T21:38:03Z xsd:dateTime created_by: peter [Term] id: HP:0032277 name: Lozenge-shaped umbilicus comment: An ovoid depression of the tissue that immediately surrounds the umbilicus, resulting in a lozenge-shaped depression encircling a slightly prominent (protruding) umbilicus. {xref="ISBN-13:978-0195300451"} is_a: HP:0001551 ! Abnormal umbilicus morphology property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T21:47:25Z xsd:dateTime created_by: peter [Term] id: HP:0032278 name: 2-hydroxyglutarate aciduria def: "An increase in the level of 2-hydroxyglutaric acid in the urine." [] comment: 2-hydroxyglutaric aciduria can cause causes progressive cerebral damage. is_a: HP:0003215 ! Dicarboxylic aciduria property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T21:55:32Z xsd:dateTime created_by: peter [Term] id: HP:0032281 name: Abnormal base excess def: "Deviation from the normal quantity of base excess, defined as the amount of strong acid (in millimoles per liter) that needs to be added in vitro to 1 liter of fully oxygenated whole blood to return a blood sample to standard conditions (pH of 7.40, Pco2 of 40 mm Hg, and temperature of 37 degrees C)." [PMID:30067929] comment: The base excess increases in metabolic alkalosis and decreases in metabolic acidosis, but its utility in interpreting blood gas results is controversial. The term base excess is used in clinical practice, but the available blood gas devices calculate either the standard base excess, also called the base excess of the extracellular fluid, or the base excess of blood. Base deficit is calculated as the base excess times minus one. is_a: HP:0004360 ! Abnormality of acid-base homeostasis property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T23:07:10Z xsd:dateTime created_by: peter [Term] id: HP:0032282 name: Contact dermatitis def: "An inflammatory process in skin caused by an exogenous agent that directly or indirectly injure the skin. If the offending agent is identified and removed, the eruption will resolve. An unusual or patterned eruption may be a clue to the presence of a contact dermatitis. Patch testing may be helpful in the differential diagnosis." [] is_a: HP:0000964 ! Eczema property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T23:19:54Z xsd:dateTime created_by: peter [Term] id: HP:0032283 name: Disseminated nontuberculous mycobacterial infection def: "An infection with nontuberculous mycobacteria that affects multiple body sites. Such infections can occur in individuals with immune disease." [] is_a: HP:0032260 ! Opportunistic bacterial infection property_value: http://purl.org/dc/elements/1.1/date 2019-01-27T23:26:04Z xsd:dateTime created_by: peter [Term] id: HP:0032284 name: Ultra-low vision with retained motion projection def: "Ultra-low vision but with retained ability to identify a moving object (typically hand motion at distance of 30 cm)." [UManchester:psergouniotis] is_a: HP:0032123 ! Ultra-low vision property_value: http://purl.org/dc/elements/1.1/date 2019-02-10T13:52:59Z xsd:dateTime created_by: peter [Term] id: HP:0032285 name: Ultra-low vision with retained light projection def: "Ultra-low vision but with retained ability to perceive the difference between light and dark. Also when light is projected in each of the four quadrants of the visual field, the individual is able to correctly identify the origin of the light stimulus." [UManchester:psergouniotis] is_a: HP:0032123 ! Ultra-low vision property_value: http://purl.org/dc/elements/1.1/date 2019-02-10T13:53:42Z xsd:dateTime created_by: peter [Term] id: HP:0032286 name: Ultra-low vision with retained light perception def: "Ultra-low vision but with retained ability to perceive the difference between light and dark." [UManchester:psergouniotis] is_a: HP:0032123 ! Ultra-low vision property_value: http://purl.org/dc/elements/1.1/date 2019-02-10T13:54:32Z xsd:dateTime created_by: peter [Term] id: HP:0032287 name: Ultra-low vision with no light perception def: "Ultra-low vision with complete lack of light and form perception." [UManchester:psergouniotis] is_a: HP:0032123 ! Ultra-low vision property_value: http://purl.org/dc/elements/1.1/date 2019-02-10T13:55:07Z xsd:dateTime created_by: peter [Term] id: HP:0032288 name: Polyclonal elevation of circulating IgG def: "An increase in polyclonal immunoglobulins resulting from many different plasma cells. On serum electrophoresis, a polyclonal gammopathy is characterized by a broad diffuse band with one or more heavy chains and kappa and lambda light chains." [PMID:15663032] is_a: HP:0003237 ! Increased circulating IgG level property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T22:19:07Z xsd:dateTime created_by: peter [Term] id: HP:0032289 name: Oligoclonal elevation of circulating IgG def: "An increase in circulating immunoglobulins characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins." [] is_a: HP:0003237 ! Increased circulating IgG level property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T22:23:04Z xsd:dateTime created_by: peter [Term] id: HP:0032290 name: Monoclonal elevation of IgG def: "An increase in circulating immunoglobulins characterized by a single band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins." [] comment: Monoclonal gammopathies are associated with a clonal process that is malignant or potentially malignant. In contrast, polyclonal gammopathies may be caused by any reactive or inflammatory process, and they usually are associated with nonmalignant conditions. is_a: HP:0003237 ! Increased circulating IgG level property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T22:37:16Z xsd:dateTime created_by: peter [Term] id: HP:0032291 name: Monoclonal elevation of intact IgG def: "A type of monoclonal elevation of IgG in which the involved immunoglobulin has a normal structure with a light and heavy chain." [] is_a: HP:0032290 ! Monoclonal elevation of IgG property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T22:39:49Z xsd:dateTime created_by: peter [Term] id: HP:0032292 name: Monoclonal elevation of IgG light chain def: "A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a light chain but not a heavy chain." [PMID:10926917] comment: Each monomeric IgG antibody consists of four chains: two heavy chains, providing class specificity, and two light chains, kappa or lambda. is_a: HP:0032290 ! Monoclonal elevation of IgG property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T22:41:08Z xsd:dateTime created_by: peter [Term] id: HP:0032293 name: Monoclonal elevation of IgG heavy chain def: "A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a heavy chain but not a light chain." [] is_a: HP:0032290 ! Monoclonal elevation of IgG property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T22:42:06Z xsd:dateTime created_by: peter [Term] id: HP:0032294 name: Monoclonal elevation of IgG kappa chain def: "A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a kappa light chain but not a heavy chain." [] is_a: HP:0032292 ! Monoclonal elevation of IgG light chain property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T22:42:44Z xsd:dateTime created_by: peter [Term] id: HP:0032295 name: Monoclonal elevation of IgG lambda chain def: "A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a lambda light chain but not a heavy chain." [] is_a: HP:0032292 ! Monoclonal elevation of IgG light chain property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T22:43:13Z xsd:dateTime created_by: peter [Term] id: HP:0032296 name: Increased circulating IgG subtype def: "An elevation of circulating IgG level predominantly related to an elevation of one of the four IgG subtypes." [PMID:25368619] comment: The four subclasses, IgG1, IgG2, IgG3, and IgG4, which are highly conserved, differ in their constant region, particularly in their hinges and upper CH2 domains. These regions are involved in binding to both IgG-Fc receptors (Fc-gammaR) and C1q. As a result, the different subclasses have different effector functions, is_a: HP:0003237 ! Increased circulating IgG level property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T22:46:56Z xsd:dateTime created_by: peter [Term] id: HP:0032297 name: Increased circulating IgG3 level def: "An abnormally increased concentration of the IgG3 subtype in the blood circulation." [PMID:25368619, UCDenver:tjcallahan] comment: IgG3 antibodies are particularly effective in the induction of effector functions. is_a: HP:0032296 ! Increased circulating IgG subtype property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T22:50:02Z xsd:dateTime created_by: peter [Term] id: HP:0032298 name: Increased circulating IgG1 level def: "An abnormally increased concentration of the IgG1 subtype in the blood circulation." [PMID:25368619, UCDenver:tjcallahan] comment: Antibody responses to soluble protein antigens and membrane proteins primarily induce IgG1, but are accompanied with lower levels of the other subclasses, mostly IgG3 and IgG4. Because IgG1 is normally the most abundant subclass, a lack of IgG1 seen in a variety of primary and secondary antibody deficiencies, can result in decreased total IgG levels (hypogammaglobulinemia). IgG1 deficiencies, sometimes in combination with other IgG subclass deficiencies, are associated with recurrent infections. is_a: HP:0032296 ! Increased circulating IgG subtype property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T22:52:27Z xsd:dateTime created_by: peter [Term] id: HP:0032299 name: Increased circulating IgG2 level def: "An abnormally increased concentration of the IgG2 subtype in the blood circulation." [PMID:25368619, UCDenver:tjcallahan] comment: Immunoglobulin G-antibody responses to bacterial capsular polysaccharide antigens can be almost completely restricted to IgG2. is_a: HP:0032296 ! Increased circulating IgG subtype property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T22:55:31Z xsd:dateTime created_by: peter [Term] id: HP:0032300 name: Increased circulating IgG4 level def: "An abnormally increased concentration of the IgG4 subtype in the blood circulation." [PMID:25368619, UCDenver:tjcallahan] comment: Allergens are often good inducers of IgG1 and IgG4, in addition to IgE. IgG4 antibodies are often formed following repeated or long-term exposure to antigen in a non-infectious setting and may become the dominant subclass. is_a: HP:0032296 ! Increased circulating IgG subtype property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T22:56:05Z xsd:dateTime created_by: peter [Term] id: HP:0032301 name: Genital warts def: "Warts affecting the skin in the genital area (peniile shaft, scrotum, vagina, or labia majora). Warts can be small, beginning as a pinhead-size swelling that may become larger and take on a pdenuculated appearance. Warts can spread and coalesce into large masses in the genital or anal area. Their color is variable but tends to be skin colored or darker, and they may occasionally bleed. Warts may cause itching, redness, or discomfort. An outbreak of genital warts may also cause psychological distress." [PMID:28722914] comment: Genital warts are the clinical manifestations of a sexually transmitted disease caused by some types of human papillomavirus (HPV). is_a: HP:0200043 ! Verrucae property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T23:10:40Z xsd:dateTime created_by: peter [Term] id: HP:0032302 name: Kappa Bence Jones proteinuria def: "The presence of free monoclonal kappa immunoglobulin light chains in the urine." [] is_a: HP:0030156 ! Bence Jones Proteinuria property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T23:22:01Z xsd:dateTime created_by: peter [Term] id: HP:0032303 name: Lambda Bence Jones proteinuria def: "The presence of free monoclonal lambda immunoglobulin light chains in the urine." [] is_a: HP:0030156 ! Bence Jones Proteinuria property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T23:23:21Z xsd:dateTime created_by: peter [Term] id: HP:0032304 name: Abnormal mannose-binding protein level def: "Any deviation from the normal concentration of mannose-binding protein in the blood circulation." [] comment: Mannose-binding protein is encoded by the MBL2 gene. It is a calcium-dependent lectin involved in innate immune defense and that binds mannose, fucose and N-acetylglucosamine on different microorganisms and activates the lectin complement pathway. is_a: HP:0010876 ! Abnormal circulating protein level property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T23:27:46Z xsd:dateTime created_by: peter [Term] id: HP:0032305 name: Decreased mannose-binding protein level def: "An abnormal reduction below the normal concentration of mannose-binding protein in the blood circulation." [OHSU:jpgourdine, PMID:25783214] is_a: HP:0032304 ! Abnormal mannose-binding protein level property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T23:29:35Z xsd:dateTime created_by: peter [Term] id: HP:0032306 name: Increased mannose-binding protein level def: "An abnormal elevation above the normal concentration of mannose-binding protein in the blood circulation." [OHSU:jpgourdine, PMID:25783214] is_a: HP:0032304 ! Abnormal mannose-binding protein level property_value: http://purl.org/dc/elements/1.1/date 2019-02-12T23:29:43Z xsd:dateTime created_by: peter [Term] id: HP:0032308 name: Increased circulating procalcitonin level def: "An elevated concentration of procalcitonin in the blood circulation." [PMID:28794881, UCDenver:tjcallahan] comment: Procalcitonin is a 116 amino acid peptide that has an approximate MW of 14.5 kDa and belongs to the calcitonin (CT) superfamily of peptides. It can be divided into 3 sections including the amino terminus of the PCT region, immature calcitonin, and calcitonin carboxyl-terminus peptide-1 (CCP-1). Procalcitonin is encoded by CALC-1 gene located on chromosome 11. Cleavage in 1 site of the primary transcript of CALC-1 gene produces pre-PCT, which further undergoes proteolytic cleavage of its signal sequence to produce PCT. The synthesized PCT then undergoes post-translational processing to produce small peptides and mature CT. PCT is a biomarker that exhibits greater specificity than other proinflammatory markers (eg, cytokines) in identifying patients with sepsis and can be used in the diagnosis of bacterial infections. The short half-life (25-30 hours in plasma) of PCT, coupled with its virtual absence in health and specificity for bacterial infections, gives it a clear advantage over the other markers of bacterial infection. is_a: HP:0100530 ! Abnormal calcium-phosphate regulating hormone level property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T10:46:33Z xsd:dateTime created_by: peter [Term] id: HP:0032309 name: Abnormal granulocyte count def: "Any deviation from the normal cell count per volume of granulocytes in the blood circulation." [] comment: Granulocytes belong to the innate immune system and make up the largest proportion of white blood cells. They are myeloid cells and can be classified as neutrophil granulocytes (neutrophils), eosinophils, basophils, monocytes, and mast cells. is_a: HP:0001911 ! Abnormal granulocyte morphology is_a: HP:0011893 ! Abnormal leukocyte count property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T10:54:57Z xsd:dateTime created_by: peter [Term] id: HP:0032310 name: Granulocytosis def: "An increased count of granulocytes in the peripheral blood circulation." [] is_a: HP:0032309 ! Abnormal granulocyte count property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T10:57:40Z xsd:dateTime created_by: peter [Term] id: HP:0032311 name: Increased circulating globulin level def: "An abnormally elevated concentration of globulins in the blood." [UCDenver:tjcallahan] is_a: HP:0032179 ! Abnormal circulating globulin level property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T11:01:24Z xsd:dateTime created_by: peter [Term] id: HP:0032312 name: Decreased circulating globulin level def: "An abnormally reduced concentration of globulins in the blood." [] is_a: HP:0032179 ! Abnormal circulating globulin level property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T11:02:26Z xsd:dateTime created_by: peter [Term] id: HP:0032313 name: Frontotemporal hypertrichosis def: "Excessive, increased hair growth located in the region of the forehead and temple." [] is_a: HP:0002219 ! Facial hypertrichosis property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T11:05:15Z xsd:dateTime created_by: peter [Term] id: HP:0032314 name: Abnormal areolar morphology def: "An abnormal appearance or structure of the ring of pigmented skin that surrounds the nipple." [] is_a: HP:0031093 ! Abnormal breast morphology property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T11:26:26Z xsd:dateTime created_by: peter [Term] id: HP:0032315 name: Areolar fullness def: "The areola (ring of pigmented skin surrounding the nipple) is filled out so as to produce a rounded shape." [] is_a: HP:0032314 ! Abnormal areolar morphology property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T11:27:08Z xsd:dateTime created_by: peter [Term] id: HP:0032316 name: Family history def: "Information about close relatives of an individual who is the proband of a study or who is being investigated with the goal of identifying a medical diagnosis. Usually, the family history includes information from three generations of relatives, including children, brothers and sisters, parents, aunts and uncles, nieces and nephews, grandparents, and cousins." [] comment: This subontology is intended to help record summary information about family members if only a limited amount of information is available or required. is_a: HP:0032443 ! Past medical history property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T11:40:50Z xsd:dateTime created_by: peter [Term] id: HP:0032317 name: Family history of cancer def: "A close blood relative had cancer." [] is_a: HP:0032316 ! Family history property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T11:43:34Z xsd:dateTime created_by: peter [Term] id: HP:0032318 name: Family history of heart disease def: "A close blood relative had heart disease." [] is_a: HP:0032316 ! Family history property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T11:45:48Z xsd:dateTime created_by: peter [Term] id: HP:0032319 name: Health status def: "Health status of a family member with respect to the disease being investigated in a proband." [] is_a: HP:0032316 ! Family history property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T11:46:18Z xsd:dateTime created_by: peter [Term] id: HP:0032320 name: Affected def: "This term applies to a family member who is diagnosed with the same condition as the individual who is the primary focus of investigation (the proband)." [] is_a: HP:0032319 ! Health status property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T11:47:51Z xsd:dateTime created_by: peter [Term] id: HP:0032321 name: Unaffected def: "This term applies to a family member in whom the diagnosis that is the primary focus of investigation is excluded." [] is_a: HP:0032319 ! Health status property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T11:48:40Z xsd:dateTime created_by: peter [Term] id: HP:0032322 name: Healthy def: "No history of any serious disease, including the disease being investigated in the proband." [] is_a: HP:0032319 ! Health status property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T11:49:52Z xsd:dateTime created_by: peter [Term] id: HP:0032323 name: Periodic fever def: "Episodic fever that recurs at regular intervals." [] is_a: HP:0001954 ! Recurrent fever property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T11:54:22Z xsd:dateTime created_by: peter [Term] id: HP:0032324 name: Non-periodic recurrent fever def: "Episodic fever that recurs at irregular intervals." [] is_a: HP:0001954 ! Recurrent fever property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T11:54:53Z xsd:dateTime created_by: peter [Term] id: HP:0032325 name: Lacunar stroke def: "A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain." [PMID:15834013] is_a: HP:0002140 ! Ischemic stroke property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T11:57:13Z xsd:dateTime created_by: peter [Term] id: HP:0032326 name: Methicillin-resistant Staphylococcus aureus infection def: "Infection with staphylococcus aureus resistant to the antibiotic methicillin (MRSA). MRSA can infect any individual but is more common among hospitalized patients, and can also occur as an opportunistic infection." [PMID:16186732] synonym: "MRSA infection" EXACT HP:0045077 [] is_a: HP:0032260 ! Opportunistic bacterial infection property_value: http://purl.org/dc/elements/1.1/date 2019-02-14T12:04:53Z xsd:dateTime created_by: peter [Term] id: HP:0032327 name: Interhemispheric cyst def: "Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system." [PMID:27195030] is_a: HP:0012703 ! Abnormal subarachnoid space morphology property_value: http://purl.org/dc/elements/1.1/date 2019-02-16T14:47:30Z xsd:dateTime created_by: peter [Term] id: HP:0032328 name: Temporomandibular joint adhesion def: "Formation of one or more fibrous bands within the temporomandibular joint (TMJ) with resulting limitation of movement of the TMJ. Adhesions may be seen in degenerative processes that involve the TMJ." [PMID:12139272, PMID:19534789] comment: See Figure 1 of PMID:19534789. is_a: HP:0010754 ! Abnormality of the temporomandibular joint property_value: http://purl.org/dc/elements/1.1/date 2019-02-18T11:34:44Z xsd:dateTime created_by: peter [Term] id: HP:0032329 name: Increased urinary 11-deoxycortisol level def: "An abnormally elevated concentration of 11-deoxycortisol in the urine." [OHSU:jpgourdine, PMID:10689646] comment: Increased urinary 11-Deoxycortisol is associated with congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency. is_a: HP:0012029 ! Abnormal urine hormone level property_value: http://purl.org/dc/elements/1.1/date 2019-02-18T13:41:41Z xsd:dateTime created_by: peter [Term] id: HP:0032330 name: Increased urinary 11-deoxycorticosterone level def: "An abnormally elevated concentration or amount of 11-deoxycorticosterone in the urine." [OHSU:jpgourdine, PMID:10689646] comment: Increased urinary 11-deoxycorticosterone is associated with congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency. is_a: HP:0012029 ! Abnormal urine hormone level property_value: http://purl.org/dc/elements/1.1/date 2019-02-18T13:52:04Z xsd:dateTime created_by: peter [Term] id: HP:0032331 name: Increased urinary 11-deoxytetrahydrocorticosterone level def: "An abnormally elevated concentration or amount of 11-deoxytetrahydrocorticosterone the urine." [OHSU:jpgourdine, PMID:10689646] comment: Increased urinary 11-deoxytetrahydrocorticosterone is associated with congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency. is_a: HP:0012029 ! Abnormal urine hormone level property_value: http://purl.org/dc/elements/1.1/date 2019-02-18T13:59:35Z xsd:dateTime created_by: peter [Term] id: HP:0032332 name: Oligoclonal elevation of circulating IgM def: "An increase in circulating IgM characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase." [] is_a: HP:0003496 ! Increased circulating IgM level property_value: http://purl.org/dc/elements/1.1/date 2019-02-18T14:07:45Z xsd:dateTime created_by: peter [Term] id: HP:0032333 name: Polyclonal elevation of circulating IgA def: "A heterogeneous increase in IgA mmunoglobulins characterized by a diffuse band on serum electrophoresis." [] is_a: HP:0003261 ! Increased circulating IgA level property_value: http://purl.org/dc/elements/1.1/date 2019-02-18T14:10:14Z xsd:dateTime created_by: peter [Term] id: HP:0032334 name: Oligoclonal elevation of circulating IgA def: "An increase in circulating IgA characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins." [] is_a: HP:0003261 ! Increased circulating IgA level property_value: http://purl.org/dc/elements/1.1/date 2019-02-18T14:10:26Z xsd:dateTime created_by: peter [Term] id: HP:0032335 name: Monoclonal elevation of circulating IgA def: "An increase in circulating IgA characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins." [] is_a: HP:0003261 ! Increased circulating IgA level property_value: http://purl.org/dc/elements/1.1/date 2019-02-18T14:10:39Z xsd:dateTime created_by: peter [Term] id: HP:0032336 name: Increased circulating specific IgE antibody is_a: HP:0010701 ! Abnormal immunoglobulin level property_value: http://purl.org/dc/elements/1.1/date 2019-02-18T14:13:53Z xsd:dateTime created_by: peter [Term] id: HP:0032337 name: Monoclonal elevation of circulating IgE def: "An increase in circulating IgE characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins." [] is_a: HP:0003212 ! Increased circulating total IgE level property_value: http://purl.org/dc/elements/1.1/date 2019-02-18T14:15:47Z xsd:dateTime created_by: peter [Term] id: HP:0032338 name: Oligoclonal elevation of circulating IgE def: "An increase in circulating IgE characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins." [] is_a: HP:0003212 ! Increased circulating total IgE level property_value: http://purl.org/dc/elements/1.1/date 2019-02-18T14:16:26Z xsd:dateTime created_by: peter [Term] id: HP:0032339 name: Polyclonal elevation of circulating IgE def: "A heterogeneous increase in IgE mmunoglobulins characterized by a diffuse band on serum electrophoresis." [] is_a: HP:0003212 ! Increased circulating total IgE level property_value: http://purl.org/dc/elements/1.1/date 2019-02-18T14:16:50Z xsd:dateTime created_by: peter [Term] id: HP:0032340 name: Abnormal spirometry test def: "An abnormal spirometry test result. In this test, the individual being tested exhales into a tube connected to a machine called a spirometer, which measures the volume of air expired against time. Patients are asked to take a maximal inspiration and then to forcefully expel air for as long and as quickly as possible." [PMID:22347750, PMID:24695507] is_a: HP:0030878 ! Abnormality on pulmonary function testing property_value: http://purl.org/dc/elements/1.1/date 2019-02-21T12:38:21Z xsd:dateTime created_by: peter [Term] id: HP:0032341 name: Reduced forced vital capacity def: "An abnormal reduction in the amount of air a person can expel following maximal insipiration." [PMID:22347750, PMID:24695507] comment: The threshold for an abnormally low FVC is defined as less than the LLN for adults or less than 80 percent of predicted for those five to 18 years of age, indicating a restrictive pattern. The LLLN (lower limit of normal) is a measurement less than the fifth percentile of spirometry data obtained from the Third National Health and Nutrition Examination Survey (NHANES III). synonym: "Decreased forced vital capacity" EXACT [] synonym: "Reduced FVC" EXACT HP:0045077 [] is_a: HP:0032340 ! Abnormal spirometry test property_value: http://purl.org/dc/elements/1.1/date 2019-02-21T12:48:52Z xsd:dateTime created_by: peter [Term] id: HP:0032342 name: Reduced forced expiratory volume in one second synonym: "An abnormal reduction in the amount of air a person can forcefully expel in one second." EXACT [] is_a: HP:0032340 ! Abnormal spirometry test property_value: http://purl.org/dc/elements/1.1/date 2019-02-21T12:54:07Z xsd:dateTime created_by: peter [Term] id: HP:0032344 name: Upslanting toenail def: "Upturned concavity of toenails." [] comment: See Figure 1 of PMID:25776851. synonym: "Ski-jump toenail" EXACT [] synonym: "Upturned toenail" EXACT [] is_a: HP:0008388 ! Abnormal toenail morphology property_value: http://purl.org/dc/elements/1.1/date 2019-02-21T13:14:43Z xsd:dateTime created_by: peter [Term] id: HP:0032345 name: Elevated cancer Ag 19-9 level def: "An abnormal increased in the amount of the carbohydrate antigen 19-9, a recognizable sialo-ganglioside in the blood circulation." [] comment: CA 19-9 is also referred to as sialyl Lewis-a (sLea). It is expressed on the surface of cancer cells as a glycolipid and as an O-linked glycoprotein. Subsequently, CA 19-9 was also identified in the tissue and sera of patients with other gastrointestinal tumors including esophageal, gastric, biliary and pancreatic cancer. CA 19-9 is derived from an aberrant pathway during production of its normal counterpart disialyl Lewis-a which has one extra sialic acid residue attached through a 2-to-6 linkage. Disialyl Lewis-a is normally expressed on the epithelial surface of digestive organs, serves as a ligand for monocytes and macrophages, and helps in immunosurveillance. Epigenetic silencing of the gene for 2-to-6 sialyl transferase during early stages of carcinogenesis leads to abnormal synthesis and accumulation of sialyl Lewis-a (CA 19-9). is_a: HP:0011013 ! Abnormal circulating carbohydrate concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-21T13:26:41Z xsd:dateTime created_by: peter [Term] id: HP:0032346 name: Cutaneous lichen amyloidosis def: "Lichen amyloidosis presents with multiple localized or rarely generalized, hyperpigmented grouped papules with a predilection for the shins, calves, ankles, and dorsa of the feet and thighs." [PMID:28342017, PMID:29630157] comment: Lichen amyloidosis is mostly associated with severe pruritus. It is a keratin-derived amyloidosis, in which cytokeratins serve as amyloid precursors, affecting only the dermis. Histological findings are grouped colloid bodies, which correspond to apoptotic basal keratinocytes. is_a: HP:0012309 ! Cutaneous amyloidosis property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T16:20:56Z xsd:dateTime created_by: peter [Term] id: HP:0032347 name: Cutaneous macular amyloidosis def: "A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance. Lesions may present as a hyperpigmented patch composed of small brown macules in a rippled or reticulated pattern." [PMID:26981113] comment: Two types of keratotic amyloidosis have been identified: macular and lichen amyloidosis, and the latter is more common. In keratotic amyloidosis, keratin depositions originating from basal keratinocyte are mainly CK5 positive. synonym: "Macular amyloidosis" EXACT [] is_a: HP:0012309 ! Cutaneous amyloidosis property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T16:26:56Z xsd:dateTime created_by: peter [Term] id: HP:0032348 name: Cutaneous nodular amyloidosis def: "A type of cutaneous amyloidosis that is characterized clinically by waxy, purpuric plaques and nodules and histologically by amyloid deposits in the dermis and subcutaneous tissue." [PMID:28537855] is_a: HP:0012309 ! Cutaneous amyloidosis property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T16:30:50Z xsd:dateTime created_by: peter [Term] id: HP:0032349 name: Serinuria def: "A increased concentration of serine in the urine." [UCDenver:tjcallahan] is_a: HP:0008353 ! Neutral hyperaminoaciduria property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T16:34:18Z xsd:dateTime created_by: peter [Term] id: HP:0032350 name: Sulfocysteinuria def: "A increased concentration of sulfocysteine in the urine." [PMID:28980090, UCDenver:tjcallahan] is_a: HP:0003355 ! Aminoaciduria property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T16:43:08Z xsd:dateTime created_by: peter [Term] id: HP:0032351 name: Phenylalaninuria def: "Increased level of phenylalanine in urine." [PMID:18566668, UCDenver:tjcallahan] synonym: "Increased level of phenylalanine in urine" EXACT [] is_a: HP:0008353 ! Neutral hyperaminoaciduria property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T16:46:17Z xsd:dateTime created_by: peter [Term] id: HP:0032352 name: Methioninuria def: "Increased level of methionine in urine." [UCDenver:tjcallahan] is_a: HP:0003355 ! Aminoaciduria property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T16:48:53Z xsd:dateTime created_by: peter [Term] id: HP:0032353 name: Leucinuria def: "Increased level of leucine in urine." [UCDenver:tjcallahan] is_a: HP:0008353 ! Neutral hyperaminoaciduria property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T16:51:08Z xsd:dateTime created_by: peter [Term] id: HP:0032355 name: Decreased peak expiratory flow def: "A reduction in the maximum expiratory flow per minute, which can be used to measure how fast a subject can exhale as well as to judge the strength of the expiratory muscles and the condition of the large airways." [PMID:28005993, UCDenver:tjcallahan] is_a: HP:0032340 ! Abnormal spirometry test property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T16:59:55Z xsd:dateTime created_by: peter [Term] id: HP:0032356 name: Decreased pre-bronchodilator forced vital capacity def: "An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed before the administration of a bronchodilating medication." [PMID:24695507, UCDenver:tjcallahan] synonym: "Decreased pre bronchodilator forced vital capacity" EXACT [] synonym: "Decreased prebronchodilator forced vital capacity" EXACT [] is_a: HP:0032341 ! Reduced forced vital capacity property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T17:02:47Z xsd:dateTime created_by: peter [Term] id: HP:0032357 name: Decreased post-bronchodilator forced vital capacity def: "An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed after the administration of a bronchodilating medication." [PMID:24695507, UCDenver:tjcallahan] synonym: "Decreased post bronchodilator forced vital capacity" EXACT [] synonym: "Decreased postbronchodilator forced vital capacity" EXACT [] is_a: HP:0032341 ! Reduced forced vital capacity property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T17:05:42Z xsd:dateTime created_by: peter [Term] id: HP:0032358 name: Decreased post-bronchodilator forced expiratory volume in one second def: "An abnormal reduction in the amount of air a person can forcefully expel in one second, with the test being performed after the administration of a bronchodilating medication." [] synonym: "Decreased post bronchodilator forced expiratory volume in one second" EXACT [] synonym: "Decreased postbronchodilator forced expiratory volume in one second" EXACT [] is_a: HP:0032342 ! Reduced forced expiratory volume in one second property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T17:09:37Z xsd:dateTime created_by: peter [Term] id: HP:0032359 name: Decreased forced expiratory flow 25-75% def: "A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled." [PMID:24695507, UCDenver:tjcallahan] synonym: "Decreased FEF25-75%" EXACT HP:0045077 [] is_a: HP:0032340 ! Abnormal spirometry test property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T17:12:34Z xsd:dateTime created_by: peter [Term] id: HP:0032360 name: Decreased pre-bronchodilator forced expiratory flow 25-75% def: "A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed before the administration of a bronchodilating medication." [PMID:24695507, UCDenver:tjcallahan] synonym: "Decreased pre bronchodilator forced expiratory flow 25-75%" EXACT [] synonym: "Decreased pre-bronchodilator FEF25-75%" EXACT HP:0045077 [] synonym: "Decreased prebronchodilator forced expiratory flow 25-75%" EXACT [] is_a: HP:0032359 ! Decreased forced expiratory flow 25-75% property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T17:15:58Z xsd:dateTime created_by: peter [Term] id: HP:0032361 name: Decreased post-bronchodilator forced expiratory flow 25-75% def: "A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed after the administration of a bronchodilating medication." [] synonym: "Decreased post bronchodilator forced expiratory flow 25-75%" EXACT [] synonym: "Decreased post-bronchodilator FEF25-75%" EXACT HP:0045077 [] synonym: "Decreased postbronchodilator forced expiratory flow 25-75%" EXACT [] is_a: HP:0032359 ! Decreased forced expiratory flow 25-75% property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T17:19:17Z xsd:dateTime created_by: peter [Term] id: HP:0032362 name: Increased circulating corticosterone level def: "An abnormally elevated concentration of corticosterone in the blood." [UCDenver:tjcallahan] is_a: HP:0012112 ! Abnormal circulating corticosterone level property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T17:25:15Z xsd:dateTime created_by: peter [Term] id: HP:0032363 name: Decreased circulating corticosterone level def: "An abnormally reduced concentration of corticosterone in the blood." [] is_a: HP:0012112 ! Abnormal circulating corticosterone level property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T17:31:39Z xsd:dateTime created_by: peter [Term] id: HP:0032364 name: Abnormal CSF amino acid level def: "An abnormal concentration of an amino acid in the cerebrospinal fluid." [] synonym: "Abnormal cerebrospinal fluid amino acid level" EXACT [] is_a: HP:0025454 ! Abnormal CSF metabolite level property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T17:33:35Z xsd:dateTime created_by: peter [Term] id: HP:0032365 name: Exacerbated by aspirin ingestion def: "Applied to a sign or symptom that is worsened by ingestion of aspirin." [] is_a: HP:0025285 ! Aggravated by property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T17:36:45Z xsd:dateTime created_by: peter [Term] id: HP:0032366 name: Positive direct antiglobulin test def: "A positive result of the direct antiglobulin test (DAT), a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction." [PMID:28134589] comment: The DAT is a method used to detect immunoglobulin or complement bound in vivo to RBCs, using anti-human reagents. There are 3 different reagents that may be used: monospecific reagents to detect either bound immunoglobulin G (IgG) or bound complement (C3) and polyspecific reagents that can simultaneously detect IgG and/or C3. In screening of RBCs for the presence of bound globulins and/or C3, many laboratories may choose to use the polyspecific reagent initially (ie, as a screen for any bound IgG and/or complement) and, if positive, subsequently use monospecific reagents to specifically distinguish what is bound to the RBC surface. is_a: HP:0030057 ! Autoimmune antibody positivity property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T17:43:12Z xsd:dateTime created_by: peter [Term] id: HP:0032367 name: Abnormal growth hormone level def: "Any deviation from the normal level of growth hormone (GH) in the blood circulation. GH or somatotropin is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration. Its secretion from the pituitary is regulated by the neurosecretory nuclei of the hypothalamus, which can release Growth hormone-releasing hormone (GHRH or somatocrinin) and Growth hormone-inhibiting hormone (GHIH or somatostatin) into the hypophyseal portal venous blood surrounding the pituitary. GH is secreted in a pulsatile manner, which is one of the reasons why an isolated measurement of its blood concentration is not meaningful." [] synonym: "Abnormal somatotropin level" EXACT [] is_a: HP:0003117 ! Abnormal circulating hormone level property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T18:15:25Z xsd:dateTime created_by: peter [Term] id: HP:0032368 name: Acidemia def: "An abnormally low blood pH (usually defined as less than 7.35)." [PMID:24381489] comment: When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis. is_a: HP:0004360 ! Abnormality of acid-base homeostasis property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T18:37:21Z xsd:dateTime created_by: peter [Term] id: HP:0032369 name: Alkalemia def: "An abnormally high blood pH (usually defined as 7.41 or above)." [PMID:24381489] comment: When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis. is_a: HP:0004360 ! Abnormality of acid-base homeostasis property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T18:42:24Z xsd:dateTime created_by: peter [Term] id: HP:0032370 name: Blood group A def: "ABO phenotype A, corresponding to the genotype AO or AA." [] is_a: HP:0032224 ! ABO blood group property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T18:59:31Z xsd:dateTime created_by: peter [Term] id: HP:0032371 name: Isoleucinuria def: "An increased concentration of isoleucine in the urine." [UCDenver:tjcallahan] synonym: "Hyperisoleucinuria" EXACT [] is_a: HP:0008353 ! Neutral hyperaminoaciduria property_value: http://purl.org/dc/elements/1.1/date 2019-02-23T19:14:44Z xsd:dateTime created_by: peter [Term] id: HP:0032372 name: Increased peripheral blast count def: "An increased count in the peripheral blood of cells that are precursors to mature circulating blood cells such as neutrophiles, monocytes, lymphocutes, and erythrocytes. Blasts are not usually found in significant numbers in the peripheral blood circulation, but can be observed in hematopoietic neoplasms such as leukemia, severe infections, and as a result of certain medications." [] synonym: "Elevated blast count" EXACT [] synonym: "Increased peripheral myeloblast count" EXACT [] is_a: HP:0011893 ! Abnormal leukocyte count property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T13:28:31Z xsd:dateTime created_by: peter [Term] id: HP:0032373 name: Duffy blood group def: "The Duffy blood group system is based on the presence of a glycoprotein termed Fy that is on the surface of erythrocytes and some other cells. There are two Duffy antigens named Fya and Fyb, and thus there are four Duffy phenotypes: a+b+, a+b-, a-b+,a-b-." [PMID:19480920] comment: FY has two major codominant alleles, FYA and FYB, which result from a SNP (125G>A), and the corresponding Fya and Fyb antigens differ by a single amino acid (G42D). Individuals who are homozygous for a -33T>C SNP in the erythroid promoter region of the FYB allele have the phenotype Fy(a-b-) and do not express Duffy antigens on their RBCs. is_a: HP:0032223 ! Blood group property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T13:37:17Z xsd:dateTime created_by: peter [Term] id: HP:0032374 name: Duffy Fya positivity def: "Presence of the Duffy Fya antigen." [PMID:19480920] is_a: HP:0032373 ! Duffy blood group property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T13:40:29Z xsd:dateTime created_by: peter [Term] id: HP:0032375 name: Duffy Fyb positivity def: "Presence of the Duffy Fyb antigen." [PMID:19480920] is_a: HP:0032373 ! Duffy blood group property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T13:42:55Z xsd:dateTime created_by: peter [Term] id: HP:0032376 name: Anti-beta 2 glycoprotein I antibody positivity def: "Presence of antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome (APS)." [PMID:28105326] comment: Beta2GPI was identified as a primary target of autoantibodies in patients with APS. Beta2GPI is a single-chain protein containing five repeating sequences or domains. Domain V is essential for binding to anionic phospholipid membranes, whereas domain I sticks out into the extracellular space where interactions with other proteins/antibodies can take place 1. synonym: "Anti-B2GPI positivity" EXACT HP:0045077 [] is_a: HP:0030057 ! Autoimmune antibody positivity property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T13:47:12Z xsd:dateTime created_by: peter [Term] id: HP:0032377 name: Increased urinary orosomucoid def: "An increased concentration in the urine of alpha-1-acid glycoprotein (AGP), also known as orosomucoid (ORM). AGP is a 41-43-kDa glycoprotein with a pI of 2.8-3.8. AGP is an acute-phase protein that has many activities including, but not limited to, acting as an acute-phase reactant and disease marker, modulating immunity, binding and carrying drugs, maintaining the barrier function of capillary, and mediating the sphingolipid metabolism." [PMID:25711902] synonym: "Increased urinary alpha-1-acid glycoprotein" EXACT [] is_a: HP:0000093 ! Proteinuria property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T14:04:48Z xsd:dateTime created_by: peter [Term] id: HP:0032378 name: Immediate-type hypersensitivity drug reaction def: "Hypersensitivity that is observed within 1 hr of exposures. A variety of adverse reactions can occur within minutes to hours of exposure to a drug. Some can be related to the pharmacological action of the drug (WHO Adverse Reaction Terminology type A for augmented) and usually have a low mortality. Others are not readily predictable based on the structure and pharmacological action of the drug and have a relatively high mortality risk (Type B for bizarre). The most serious form of immediate onset drug hypersensitivity reaction, anaphylaxis. Other reactions including itching,dizziness/light-headedness, nausea, chest discomfort but without any objective skin features, physical signs or physiological compromise. Skin only reactions include generalized erythema, urticaria or angioedema without any sentinel features (see below) of other organ involvement." [PMID:24286446] comment: Hypersensitivity is broadly defined as objectively reproducible symptoms or signs, initiated by exposure to a defined stimulus at a dose tolerated by normal subjects and may be caused by immunologic (allergic) and non-immunologic mechanisms. is_a: HP:0100326 ! Immunologic hypersensitivity property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T14:43:10Z xsd:dateTime created_by: peter [Term] id: HP:0032379 name: Polymorphous light eruption def: "The cardinal symptom is severely pruritic skin lesions. Macular, papular, papulovesicular, urticarial, multiforme- and plaque-like variants are differentiated morphologically, hence the name polymorphous. Usually one morphology dominates in a single individual (monomorphous). The skin lesions develop a few hours to several days after sun exposure. Initially, patchy erythema develops, accompanied by pruritus. Distinct lesions then develop. The upper chest, upper arms, backs of the hands, thighs, and the sides of the face are the primary localizations. The skin lesions resolve spontaneously within several days of ceasing sun exposure and do not leave behind any traces." [PMID:21442060] synonym: "Sun allergy" EXACT layperson [] is_a: HP:0000992 ! Cutaneous photosensitivity property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T14:52:07Z xsd:dateTime created_by: peter [Term] id: HP:0032381 name: Hydroa vacciniforme def: "In response to the spring sun distinct inflamed reddened skin develops on the ears, nose, cheeks, fingers, backs of the hands, and the lower arms, on which blisters with serous or hemorrhagic content develop. These dry out with the formation of a blackish scab. After shedding of the scab, depressed, varioliform, often hypopigmented scars remain. In addition, hyper- and hypopigmentation are present together, resulting in a polymorphous skin presentation." [PMID:21442060] synonym: "Acute vesiculation and crusting and scarring following sun exposure" EXACT [] is_a: HP:0000992 ! Cutaneous photosensitivity property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T14:55:08Z xsd:dateTime created_by: peter [Term] id: HP:0032382 name: Uniparental disomy def: "Inheritance of both homologues of a chromosome pair from the same parent." [] comment: UPD may comprise the whole chromosome, or just part of it (segmental UPD). Isodisomy is presented as 2 copies from the same chromosome of a parent, and heterodisomy is presented as 1 copy of each of the 2 homologues from the same parent. UPD is related to abnormalities formed during meiosis, fertilization, and mitosis. There are 5 different mechanisms that explain the etiology of UPD, including Trisomic rescue; Nullisomic gamete complementation; Monosomic rescue; Mitotic aberrations; and Structural chromosome aberrations. If prenatal genetic analysis reveals a homologous robertsonian translocation, the risk of fetal UPD is very high, and a marker chromosome or chromosome aneuploidy can be associated with UPD. {xref="PMID:29137034"} is_a: HP:0000005 ! Mode of inheritance property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T14:58:52Z xsd:dateTime created_by: peter [Term] id: HP:0032383 name: Uniparental heterodisomy def: "A type of uniparental disomy in which the two different chromosomes (or chromosome segments) of the same parent are transmitted." [PMID:25547535] is_a: HP:0032382 ! Uniparental disomy property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T15:04:03Z xsd:dateTime created_by: peter [Term] id: HP:0032384 name: Uniparental isodisomy def: "A type of uniparental disomy in which the two identical chromosomes (or chromosome segments) of the same parent are transmitted." [PMID:25547535] is_a: HP:0032382 ! Uniparental disomy property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T15:05:18Z xsd:dateTime created_by: peter [Term] id: HP:0032385 name: Abnormal circulating transferrin level def: "Any deviation from the normal concentration of transferrin in the blood circulation." [] is_a: HP:0025465 ! Abnormal circulating beta globulin level property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T15:33:47Z xsd:dateTime created_by: peter [Term] id: HP:0032386 name: Elevated transferrin level def: "An abnormally increased concentration of transferrin in the blood circulation." [PMID:19787826] is_a: HP:0032385 ! Abnormal circulating transferrin level property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T15:34:30Z xsd:dateTime created_by: peter [Term] id: HP:0032387 name: Reduced transferrin level def: "An abnormally decreased concentration of transferrin in the blood circulation." [] is_a: HP:0032385 ! Abnormal circulating transferrin level property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T15:35:44Z xsd:dateTime created_by: peter [Term] id: HP:0032388 name: Periventricular nodular heterotopia def: "Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple." [COST:neuromig, PMID:22427329] is_a: HP:0007165 ! Periventricular heterotopia property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T15:59:43Z xsd:dateTime created_by: peter [Term] id: HP:0032389 name: Periventricular laminar heterotopia def: "A large mass of heterotopia in a laminar configuration along the ventricular walls. Usually bilateral." [COST:neuromig, PMID:22427329, PMID:22473091] is_a: HP:0007165 ! Periventricular heterotopia property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T16:00:54Z xsd:dateTime created_by: peter [Term] id: HP:0032390 name: Periventricular ribbonlike heterotopia def: "Heterotopia that forms a continuous wavy line along the ventricular wall." [COST:neuromig, PMID:22315185] is_a: HP:0007165 ! Periventricular heterotopia property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T16:02:11Z xsd:dateTime created_by: peter [Term] id: HP:0032391 name: Subcortical heterotopia def: "A form of heterotopia were the mislocalized gray matter is located deep within the white matter." [COST:neuromig] is_a: HP:0002282 ! Gray matter heterotopia property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T16:03:34Z xsd:dateTime created_by: peter [Term] id: HP:0032392 name: Nodular subcortical heterotopia in peritrigonal regions def: "Solid nodular heterotopia situated in the region of the peritrigonal optic pathway posterior to the deep gray nuclei." [COST:neuromig, PMID:23246003, PMID:29654772] is_a: HP:0032391 ! Subcortical heterotopia property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T16:05:23Z xsd:dateTime created_by: peter [Term] id: HP:0032393 name: Diffuse ribbon-like subcortical heterotopia def: "Subcortical heterotopia consisting of a bilateral and symmetric single continuous, undulating ribbon-like layer of gray matter located in the frontal, parietal and occipital lobes. It has no visible connection to the overlying cortex." [COST:neuromig, PMID:24859200] is_a: HP:0032391 ! Subcortical heterotopia property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T16:06:38Z xsd:dateTime created_by: peter [Term] id: HP:0032394 name: Mesial parasagittal subcortical heterotopia def: "Subcortical heterotopia extending along the mesial aspect of the lateral ventricles, with direct connection to mesial polymicrogyria-like cortex at the anterior and posterior limits of the heterotopia." [COST:neuromig, PMID:22578326] comment: This pattern is assocatied with Chudlely-McCullough syndrome. is_a: HP:0032391 ! Subcortical heterotopia property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T16:07:29Z xsd:dateTime created_by: peter [Term] id: HP:0032395 name: Curvilinear subcortical heterotopia def: "Large subcortical heterotopia of variable morphology wiht streaks and swirls. These always connect to the overlying cortex in at least one, but usually in multiple, locations. Spaces with the signal intensity of CSF are usually seen within the heterotopia." [COST:neuromig, PMID:22427329] synonym: "Giant heterotopia" EXACT [] is_a: HP:0032391 ! Subcortical heterotopia property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T16:08:36Z xsd:dateTime created_by: peter [Term] id: HP:0032396 name: Transmantle columnar heterotopia def: "Linear heterotopia spanning from the cerebral mantle from the pia to the ependyma." [COST:neuromig, PMID:22427329] is_a: HP:0032391 ! Subcortical heterotopia property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T16:09:59Z xsd:dateTime created_by: peter [Term] id: HP:0032397 name: Citrullinuria def: "An increased concentration of citrulline in the urine." [PMID:29695388, UCDenver:tjcallahan] comment: Citrulline is an alpha-amino acid that is a key intermediate in the urea cycle. is_a: HP:0003355 ! Aminoaciduria property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T16:59:47Z xsd:dateTime created_by: peter [Term] id: HP:0032398 name: Dysgyria def: "An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation." [COST:neuromig, PMID:26130693, PMID:26564436] is_a: HP:0002269 ! Abnormality of neuronal migration property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T17:04:20Z xsd:dateTime created_by: peter [Term] id: HP:0032399 name: Dysgyria with normal cortical thickness def: "An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation but with a normal thickness of the cortex." [COST:neuromig] is_a: HP:0032398 ! Dysgyria property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T17:05:51Z xsd:dateTime created_by: peter [Term] id: HP:0032400 name: Dysgyria with thickened cortex def: "An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation and a thickened cortex intermediate between pachygyria and polymicrogyria." [COST:neuromig] is_a: HP:0032398 ! Dysgyria property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T17:06:39Z xsd:dateTime created_by: peter [Term] id: HP:0032401 name: Aspartic aciduria def: "A increased concentration of aspartic acid in the urine." [PMID:21123949, UCDenver:tjcallahan] is_a: HP:0003355 ! Aminoaciduria property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T17:47:28Z xsd:dateTime created_by: peter [Term] id: HP:0032403 name: Asparaginuria def: "An increased concentration of asparagine in the urine." [UCDenver:tjcallahan] synonym: "Increased level of asparagine in urine" EXACT [] synonym: "Increased urine asparagine level" EXACT [] is_a: HP:0008353 ! Neutral hyperaminoaciduria property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T17:59:29Z xsd:dateTime created_by: peter [Term] id: HP:0032404 name: Testicular mass def: "An abnormal bulge or lump in a testis. A testicular mass has a long differential diagnosis including testicular torsion, epididymitis, acute orchitis, strangulated hernia and testicular cancer." [PMID:9490992] comment: More precise HPO terms should be used if possible. This term should be used only if the etiology has not yet been clarified. is_a: HP:0000035 ! Abnormal testis morphology property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T18:42:56Z xsd:dateTime created_by: peter [Term] id: HP:0032405 name: Increased urinary phosphoserine level def: "An increased level of phosphoserine in the urine." [PMID:7688003, UCDenver:tjcallahan] comment: O-phosphoserine is a serine derivative that is serine substituted at the oxygen atom by a phosphono group. synonym: "Increased level of phosphoserine in urine" EXACT [] is_a: HP:0003355 ! Aminoaciduria property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T20:26:16Z xsd:dateTime created_by: peter [Term] id: HP:0032406 name: Unilateral perisylvian polymicrogyria def: "A type of perisylvian polymicrogyria that largely affects one side of the brain." [COST:neuromig, PMID:20301504] is_a: HP:0012650 ! Perisylvian polymicrogyria property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T20:45:13Z xsd:dateTime created_by: peter [Term] id: HP:0032407 name: Bilateral perisylvian polymicrogyria def: "A type of perisylvian polymicrogyria that affects both sides of the brain." [COST:neuromig, PMID:20301504] is_a: HP:0012650 ! Perisylvian polymicrogyria property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T20:47:02Z xsd:dateTime created_by: peter [Term] id: HP:0032408 name: Breast lump def: "A breast lump is any discrete mass in a breast noticed by the patient, significant other, or physician." [PMID:15887452] comment: The differential diagnosis includes fibrocystic disease, fibroadenomas, breast cancer, mammary duct ectasia, and intraductal papilloma. is_a: HP:0031093 ! Abnormal breast morphology property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T20:59:33Z xsd:dateTime created_by: peter [Term] id: HP:0032409 name: Subcortical band heterotopia def: "A form of subcortical heterotopia with mislocalized gray matter within the white matter.It is defined as longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter. It is part of the lissencephaly spectrum." [COST:neuromig, PMID:28413838] is_a: HP:0001339 ! Lissencephaly is_a: HP:0032391 ! Subcortical heterotopia property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T21:08:16Z xsd:dateTime created_by: peter [Term] id: HP:0032410 name: Bilateral generalized polymicrogyria def: "Symmetric generalized polymicrogyria with no obvious gradient or region of maximal severity; may have abnormal high signal in white matter." [COST:neuromig, PMID:20301504] synonym: "Diffuse polymicrogyria" EXACT [] is_a: HP:0002126 ! Polymicrogyria property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T21:11:36Z xsd:dateTime created_by: peter [Term] id: HP:0032411 name: Posterior predominant subcortical band heterotopia def: "Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the occipital cortex." [COST:neuromig] synonym: "Occipital subcortical band heterotopia" EXACT [] synonym: "Subcortical band heterotopia posterior predominant" EXACT [] is_a: HP:0032409 ! Subcortical band heterotopia property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T21:13:52Z xsd:dateTime created_by: peter [Term] id: HP:0032412 name: Anterior predominant subcortical band heterotopia def: "Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible in the frontal and temporal lobes." [COST:neuromig] synonym: "Frontal subcortical band heterotopia" EXACT [] synonym: "Subcortical band heterotopia anterior predominant" EXACT [] is_a: HP:0032409 ! Subcortical band heterotopia property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T21:22:36Z xsd:dateTime created_by: peter [Term] id: HP:0032413 name: Diffuse subcortical band heterotopia def: "Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the whole brain." [COST:neuromig] synonym: "Subcortical band heterotopia diffuse" EXACT [] is_a: HP:0032409 ! Subcortical band heterotopia property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T21:25:58Z xsd:dateTime created_by: peter [Term] id: HP:0032414 name: Hydrixylysinuria def: "The presence of an elevated amount of 5-hydroxylysine in the urine. This compound is a hydroxylated derivative of the amino acid lysine that is present in certain collagens." [UCDenver:tjcallahan] is_a: HP:0003355 ! Aminoaciduria property_value: http://purl.org/dc/elements/1.1/date 2019-02-24T21:34:45Z xsd:dateTime created_by: peter [Term] id: HP:0032415 name: Parasagittal parieto-occipital polymicrogyria def: "Polymicrogyria in parasagittal and mesial aspects of parieto-occipital cortex." [COST:neuromig, PMID:20301504, PMID:21127420] is_a: HP:0002126 ! Polymicrogyria property_value: http://purl.org/dc/elements/1.1/date 2019-02-26T13:20:55Z xsd:dateTime created_by: peter [Term] id: HP:0032416 name: Retinal microaneurysm def: "A localized dilation of microvasculature formed due to disruption of the internal elastic lamina of a retinal capillary blood vessel. The lesions present as small circular, red dots having distinct margins and are no larger than a blood vessel width at the disk margin. This expansion disturbs the normal flow pattern, changing shear force and pressure along the vessel. Shear force plays a key role in promoting the differentiation and proliferation of endothelial cells." [ORCID:0000-0002-6601-2165, PMID:23371018, PMID:24425852] comment: A microaneurysm may be a focal bulge or have a saccular, fusiform, or mixed appearance. Multiple microaneurysm may be observed in the fundus. is_a: HP:0008046 ! Abnormal retinal vascular morphology property_value: http://purl.org/dc/elements/1.1/date 2019-02-26T13:58:30Z xsd:dateTime created_by: peter [Term] id: HP:0032417 name: Periglomerular fibrosis def: "Periglomerular fibrosis is defined as glomeruli with open capillaries, but lamellated, frequently wrinkled, Bowman capsular basement membrane and circumferential layers of interstitial-type collagen around, within, or between the usually thickened, frequently lamellated, Bowman capsule basement membrane." [PMID:21204717] is_a: HP:0000095 ! Abnormality of renal glomerulus morphology property_value: http://purl.org/dc/elements/1.1/date 2019-02-26T14:20:31Z xsd:dateTime created_by: peter [Term] id: HP:0032418 name: Abnormal HDL subfraction concentration def: "An abnormal concentration of an HDL subfraction, which can be determined by methods such as electrophoresis followed by densitometric determination of the areas under the peaks. Large HDL subfractions are defined as HDL1 (greater than 12 nm), HDL2b (9.7-12 nm), and HDL2a (8.8-9.69 nm). Small HDL subfractions are defined as HDL3a (8.2-8.79 nm), HDL3b (7.8-8.19 nm), and HDL3c (7.20-7.79 nm)." [PMID:17291473] comment: Traditionally, HDL is separated into two major subclasses (HDL2 and HDL3), but depending on the separation method used, u[ to 10 subfractions have been reported. is_a: HP:0031888 ! Abnormal HDL cholesterol concentration property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T13:28:34Z xsd:dateTime created_by: peter [Term] id: HP:0032419 name: Abnormal HDL2a concentration def: "Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm." [PMID:17291473] is_a: HP:0032418 ! Abnormal HDL subfraction concentration property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T13:30:55Z xsd:dateTime created_by: peter [Term] id: HP:0032420 name: Increased HDL2a concentration def: "An elevation above the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm." [PMID:17291473] is_a: HP:0032419 ! Abnormal HDL2a concentration property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T13:40:40Z xsd:dateTime created_by: peter [Term] id: HP:0032421 name: Decreased HDL2a concentration def: "A reduction below the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm." [PMID:17291473] is_a: HP:0032419 ! Abnormal HDL2a concentration property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T13:41:26Z xsd:dateTime created_by: peter [Term] id: HP:0032422 name: Abnormal HDL2b concentration def: "Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2B particle is defined as an HDL particle with a size of 9.7-12 nm." [PMID:17291473] is_a: HP:0032418 ! Abnormal HDL subfraction concentration property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T13:45:07Z xsd:dateTime created_by: peter [Term] id: HP:0032423 name: Decreased HDL2b concentration def: "A reduction below the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm." [PMID:17291473] is_a: HP:0032422 ! Abnormal HDL2b concentration property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T13:46:25Z xsd:dateTime created_by: peter [Term] id: HP:0032424 name: Increased HDL2b concentration def: "An elevation above the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm." [PMID:17291473] is_a: HP:0032422 ! Abnormal HDL2b concentration property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T13:46:32Z xsd:dateTime created_by: peter [Term] id: HP:0032425 name: Abnormal HDL3a concentration def: "Any deviation from the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm." [PMID:17291473] is_a: HP:0032418 ! Abnormal HDL subfraction concentration property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T13:48:59Z xsd:dateTime created_by: peter [Term] id: HP:0032426 name: Abnormal HDL3b concentration def: "Any deviation from the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm." [PMID:17291473] is_a: HP:0032418 ! Abnormal HDL subfraction concentration property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T13:49:05Z xsd:dateTime created_by: peter [Term] id: HP:0032427 name: Abnormal HDL3c concentration def: "Any deviation from the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm." [PMID:17291473] is_a: HP:0032418 ! Abnormal HDL subfraction concentration property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T13:49:12Z xsd:dateTime created_by: peter [Term] id: HP:0032428 name: Increased HDL3a concentration def: "An elevation above the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm." [PMID:17291473] is_a: HP:0032425 ! Abnormal HDL3a concentration property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T13:49:23Z xsd:dateTime created_by: peter [Term] id: HP:0032429 name: Decreased HDL3a concentration def: "A reduction below the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm." [PMID:17291473] is_a: HP:0032425 ! Abnormal HDL3a concentration property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T13:49:28Z xsd:dateTime created_by: peter [Term] id: HP:0032430 name: Increased HDL3b concentration def: "An elevation above the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm." [PMID:17291473] is_a: HP:0032426 ! Abnormal HDL3b concentration property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T13:51:08Z xsd:dateTime created_by: peter [Term] id: HP:0032431 name: Decreased HDL3b concentration def: "A reduction below the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm." [PMID:17291473] is_a: HP:0032426 ! Abnormal HDL3b concentration property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T13:51:15Z xsd:dateTime created_by: peter [Term] id: HP:0032432 name: Increased HDL3c concentration def: "An elevation above the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm." [PMID:17291473] is_a: HP:0032427 ! Abnormal HDL3c concentration property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T13:51:23Z xsd:dateTime created_by: peter [Term] id: HP:0032433 name: Decreased HDL3c concentration def: "A reduction below the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm." [PMID:17291473] is_a: HP:0032427 ! Abnormal HDL3c concentration property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T13:51:30Z xsd:dateTime created_by: peter [Term] id: HP:0032434 name: Delayed umbilical cord separation def: "Separation of the umbilical cord occurs at an abnormally late timepoint." [PMID:11483823] comment: The umbilical cord of the newborn usually separates and sloughs by the end of the second postnatal week. However, a wide variation exists in the age at which cord separation occurs in healthy infants with regard to ethnicity, geographical location, and methods of cord care. A marked delay in cord separation raises the suspicion of leukocyte adhesion deficiency, a rare disorder leading to defective neutrophil function. is_a: HP:0010881 ! Abnormality of the umbilical cord property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T15:01:57Z xsd:dateTime created_by: peter [Term] id: HP:0032435 name: Neonatal omphalitis def: "An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period." [PMID:30020710] comment: The umbilical cord stump then gradually dries and typically falls off within 5 to 15 days. Both skin and enteric bacteria may colonize the devitalized tissue of the stump and lead to infection. Omphalitis is, therefore, a polymicrobial infection and the most common pathogens are Staphylococcus aureus, Streptococcus pyogenes, and gram-negative bacteria such as Escherichia coli, Klebsiella pneumoniae, and Proteus mirabilis. synonym: "Omphalitis" EXACT [] is_a: HP:0010881 ! Abnormality of the umbilical cord property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T15:07:20Z xsd:dateTime created_by: peter [Term] id: HP:0032436 name: Abnormal C-reactive protein level def: "Any deviation from the normal concentration of C-reactive protein in the blood circulation." [] comment: C-reactive protein (CRP) is produced by the liver, and increases in concentration in response to inflammation. is_a: HP:0010876 ! Abnormal circulating protein level property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T15:10:11Z xsd:dateTime created_by: peter [Term] id: HP:0032437 name: Reduced C-reactive protein level def: "An abnormal decrease of the C-reactive protein level in serum." [PMID:17852082, UCDenver:tjcallahan] is_a: HP:0032436 ! Abnormal C-reactive protein level property_value: http://purl.org/dc/elements/1.1/date 2019-03-02T15:11:22Z xsd:dateTime created_by: peter [Term] id: HP:0032438 name: Platelet anisocytosis def: "Abnormally increased variability in the size of platelets." [PMID:18065693] is_a: HP:0011875 ! Abnormal platelet morphology property_value: http://purl.org/dc/elements/1.1/date 2019-03-03T16:06:55Z xsd:dateTime created_by: peter [Term] id: HP:0032439 name: Airborn particle hypersensitivity def: "An abnormally increased sensitivity to airborn particles. This can be diagnosed on the basis of the medical history, taking into account seasonality or a relationship to the concentration of airborn particles in the environment of the affected individual. Aerosol challenge is a gold standard of establishment of the symptom. There exist particle hypersensitivity (diesel exhaust, metals, inorganic material) vs. allergen (including pollen dander, etc) hypersensitivity. The responses are usually different and testing for allergen hypersensitivity is done in concert with serum IgE and or skin testing to the suspected allergen." [PMID:30408667, PMID:8077583] comment: Particles can be defined as any small bits of material or droplets either inorganic or organic, viable or nonviable, that can become airborne. They can range from small molecules less than 0.001 micrometer to pollens and spores ranging between 2 and 50 micrometers and very large visible dust particles in the range of 1000 micrometers. Particles can also assume many shapes including long, fibrous varieties with a length greater than three times diameter, spheres, oddly shaped or irregularly shaped material, oblong, crescent-shaped varieties, or other peculiar shapes, such as certain pollen grains and mold spores. is_a: HP:0100326 ! Immunologic hypersensitivity property_value: http://purl.org/dc/elements/1.1/date 2019-03-03T16:15:03Z xsd:dateTime created_by: peter [Term] id: HP:0032440 name: Blood group B def: "ABO phenotype B, corresponding to the genotype BO or BB." [] is_a: HP:0032224 ! ABO blood group property_value: http://purl.org/dc/elements/1.1/date 2019-03-03T16:34:03Z xsd:dateTime created_by: peter [Term] id: HP:0032441 name: Blood group AB def: "ABO phenotype AB, corresponding to the genotype AB." [] is_a: HP:0032224 ! ABO blood group property_value: http://purl.org/dc/elements/1.1/date 2019-03-03T16:37:30Z xsd:dateTime created_by: peter [Term] id: HP:0032442 name: Blood group O def: "ABO phenotype O, corresponding to the genotype OO." [] is_a: HP:0032224 ! ABO blood group property_value: http://purl.org/dc/elements/1.1/date 2019-03-03T16:37:48Z xsd:dateTime created_by: peter [Term] id: HP:0032443 name: Past medical history def: "In a medical encounter, the physician generally will interview the patient about his or her current problem, and may perform additional testing. The past medical history (PMH) in contrast records information about the patient's medical, personal and family history that might be relevant to the presenting illness or to provide optimal clinical management. The PMH generally includes (if relevant) other major illnesses, hospitalizations, surgeries, injuries, allergies, gynecologic and obstetric history, family history, personal history including occupational history, alcohol and drug use, etc." [] comment: This subontology of the HPO is not intended to provide all needed terms to describe the past medical history, but rather to be combined with other ontologies such as MONDO in order to capture information that is often needed to properly assess phenotypic findings related to a presenting medical problem. is_a: HP:0000001 ! All property_value: http://purl.org/dc/elements/1.1/date 2019-03-03T16:39:26Z xsd:dateTime created_by: peter [Term] id: HP:0032444 name: Status post organ transplantation def: "The affected individual has received an organ transplant previous to the current medical encounter." [] synonym: "s/p organ transplantation" EXACT [] is_a: HP:0032443 ! Past medical history property_value: http://purl.org/dc/elements/1.1/date 2019-03-03T16:49:25Z xsd:dateTime created_by: peter [Term] id: HP:0032445 name: Pulmonary cyst def: "A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid." [PMID:20028879] comment: The thin wall of cystic lesions differentiates them from cavitary processes, which have thicker and irregular walls and will not be discussed in this article. On chest radiographs, findings of a cyst are often subtle, consisting of lucencies and sometimes linear opacities. An air-fluid level can improve the visibility of a cyst and may suggest infection. For the investigation of cysts, CT is substantially more sensitive than chest radiography, showing a cyst as a ringlike lucency surrounded by a thin wall. synonym: "Lung cyst" EXACT [] is_a: HP:0002088 ! Abnormal lung morphology property_value: http://purl.org/dc/elements/1.1/date 2019-03-03T17:31:21Z xsd:dateTime created_by: peter [Term] id: HP:0032446 name: Pulmonary bulla def: "A cystic space with a diameter of one cm or more. Bullae can reach substantial size and occupy an entire lobe." [PMID:20028879, PMID:24106540] comment: Blebs and bullae are commonly subpleural and are mostly seen in both upper lobes in patients with coexisting centrilobular and paraseptal emphysema. is_a: HP:0032445 ! Pulmonary cyst property_value: http://purl.org/dc/elements/1.1/date 2019-03-03T17:45:09Z xsd:dateTime created_by: peter [Term] id: HP:0032447 name: Pulmonary bleb def: "A bleb is a cystic space one cm or less in diameter." [PMID:20028879] is_a: HP:0032445 ! Pulmonary cyst property_value: http://purl.org/dc/elements/1.1/date 2019-03-03T17:47:36Z xsd:dateTime created_by: peter [Term] id: HP:0032448 name: Achlorhydria def: "A condition in which production of hydrochloric acid in the stomach is absent." [PMID:29939570] comment: Gastric acid is the fluid secreted by the stomach. It is composed of hydrochloric acid, potassium chloride, and sodium chloride. Hydrochloric acid plays an integral part in the digestion of food and protects our body against pathogens ingested with food or water. The parietal cells lining the stomach are mainly involved in its production. is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract property_value: http://purl.org/dc/elements/1.1/date 2019-03-03T17:54:51Z xsd:dateTime created_by: peter [Term] id: HP:0032449 name: Abnormal dermoepidermal hemidesmosome morphology def: "An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane." [PMID:26017636] comment: Hemidesmosomes (HDs) are highly specialized integrin-mediated epithelial attachment structures that make cells firmly adhere to the extracellular matrix by establishing a link between the underlying basement membrane (BM) and the internal mechanical stress-resilient keratin intermediate filament (IF) network. Although HDs are defined by their ultrastructural appearance, two types of HDs, type I and II, can be distinguished on the basis of their protein components. Classical type I HDs, found in stratified and pseudostratified epithelia, for example in the epidermis, consist in five major components, namely integrin alpha6beta4, plectin isoform 1a (P1a), tetraspanin CD151, bullous pemphigoid antigen (BPAG)1 isoform e (BPAG1e, also called BP230) and BPAG2 (also called BP180 or type XVII collagen). Type II HDs, found in simple epithelia such as that of the intestine, consist of integrin alpha6beta4 and plectin and lack the two BP antigens. is_a: HP:0031538 ! Abnormal dermoepidermal junction morphology property_value: http://purl.org/dc/elements/1.1/date 2019-03-03T18:24:45Z xsd:dateTime created_by: peter [Term] id: HP:0032450 name: Positive blood arsenic test def: "Detection of arsenic in the blood circulation." [] is_a: HP:0410172 ! Blood xenobiotic property_value: http://purl.org/dc/elements/1.1/date 2019-03-03T18:42:40Z xsd:dateTime created_by: peter [Term] id: HP:0032451 name: Oral melanotic macule def: "Flat, distinct, discolored area of oral mucosal membrane less than 1 cm wide not associated with a change in the thickness or texture of the affected mucosal membrane. The lesions are small, solitary, well-circumscribed and often uniformly pigmented." [PMID:24034073, PMID:26538887] comment: Melanotic macules very rarely, if ever, present larger than one centimeter in diameter. Although these are innocuous lesions, a biopsy is usually warranted for diagnosis since mucosal melanoma can mimic the appearance of a melanotic macule. Melanotic macules are caused by functional hyperactivity of the regional melanocytes ie there is increased melanin production. Histologically, this is evidenced by abundant melanin pigmentation within the basal epithelial cell layer with melanin incontinence in the superficial portions of the submucosa. Importantly, there is no increase in melanocyte number. If there is evidence of melanocytic hyperplasia, it should be diagnosed as such and the lesion would likely warrant complete surgical removal. It is possible that melanocytic hyperplasia may potentially herald the development of malignant melanoma. synonym: "Melanotic macule of oral mucosa" EXACT [] is_a: HP:0100669 ! Abnormal pigmentation of the oral mucosa property_value: http://purl.org/dc/elements/1.1/date 2019-03-08T11:02:36Z xsd:dateTime created_by: peter [Term] id: HP:0032452 name: Oral melanoacanthoma def: "Oral melanoacanthoma usually presents as an asymptomatic, ill-defined, rapidly enlarging, macular pigmentation. Although most lesions are heavily pigmented, the coloration may or may not be uniform. Any mucosal site may be affected, but buccal mucosal involvement is most common. Although typically solitary, rare patients may present with multifocal lesions." [PMID:24034073] comment: Oral melanoacanthoma is a relatively uncommon melanocytic lesion that may cause rapid, diffuse, and dark pigmentation of a large mucosal area. However, this is an innocuous pathology that is often self-limiting and may spontaneously resolve, with or without surgical intervention. is_a: HP:0100669 ! Abnormal pigmentation of the oral mucosa property_value: http://purl.org/dc/elements/1.1/date 2019-03-08T11:04:08Z xsd:dateTime created_by: peter [Term] id: HP:0032453 name: Abnormal lip pigmentation def: "Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal." [] is_a: HP:0000159 ! Abnormal lip morphology property_value: http://purl.org/dc/elements/1.1/date 2019-03-08T11:06:30Z xsd:dateTime created_by: peter [Term] id: HP:0032454 name: Labial melanotic macule def: "Flat, distinct, discolored area on the lip less than 1 cm wide not associated with a change in the thickness or texture." [PMID:24034073, PMID:26538887] synonym: "Labial melanotic freckle" EXACT [] is_a: HP:0032453 ! Abnormal lip pigmentation property_value: http://purl.org/dc/elements/1.1/date 2019-03-08T11:08:58Z xsd:dateTime created_by: peter [Term] id: HP:0032455 name: Reduced granulocyte CD18 level def: "Reduced level of CD18 on the granulocyte surface. This feature can be assessed by flow cytometry." [PMID:20142805] comment: The beta2 integrin (CD18) expressed on leukocytes can pair with several alpha integrin subunits, and each alpha-beta pairing can bind a variety of ligands, including the counterreceptors ICAM-1, -2 and -3, fibrinogen, the complement fragment iC3b, and polysaccharides. is_a: HP:0031553 ! Reduced granulocyte surface marker level property_value: http://purl.org/dc/elements/1.1/date 2019-03-08T11:13:04Z xsd:dateTime created_by: peter [Term] id: HP:0032456 name: Unlayered lissencephaly def: "A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and grey matter." [COST:neuromig] is_a: HP:0001339 ! Lissencephaly property_value: http://purl.org/dc/elements/1.1/date 2019-03-08T11:17:49Z xsd:dateTime created_by: peter [Term] id: HP:0032457 name: 2-3-layered lissencephaly def: "Pachygyria-agyria spectrum whereby at neuropathological examination the cortical plate consists of a two-three layered organization made up of a molecular layer, a relatively thin wavy layer with a higher cellular density and a third layer with lower cellularity." [COST:neuromig, PMID:28440899] is_a: HP:0001339 ! Lissencephaly property_value: http://purl.org/dc/elements/1.1/date 2019-03-08T11:53:39Z xsd:dateTime created_by: peter [Term] id: HP:0032458 name: Narrowing of medullary canal def: "A reduction in diameter and volume of the central cavity of bone where red or yellow bone marrow is located." [PMID:15894597] synonym: "Medullary cavity obliteration" EXACT [] synonym: "Narrowing of bone marrow canal" EXACT [] synonym: "Narrowing of bone medullary canal" EXACT [] synonym: "Narrowing of the marrow cavity" EXACT [] is_a: HP:0011842 ! Abnormality of skeletal morphology property_value: http://purl.org/dc/elements/1.1/date 2019-03-09T17:27:09Z xsd:dateTime created_by: peter [Term] id: HP:0032459 name: Abnormal phosphoribosylpyrophosphate synthetase activity def: "Any deviation from the normal activity of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate." [PMID:4200723] comment: Intracellular availability of the sugar phosphate, 5-phosphoribosyl 1-pyrophosphate (PP-ribose-P), is an important factor in regulation of the rate of purine synthesis de novo. PP-ribose- P synthetase (EC2.7.6.1) is an enzyme that catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. An increased activity of PP-ribose- P synthetase can be associated with increased PP-ribose-P concentrations and increased purine biosynthetic rates. Increased purine production in turn can be associated with gout. is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity property_value: http://purl.org/dc/elements/1.1/date 2019-03-09T17:34:47Z xsd:dateTime created_by: peter [Term] id: HP:0032460 name: Decreased phosphoribosylpyrophosphate synthetase activity def: "Abnormally reduced activity of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate." [PMID:17701900, PMID:20301731] comment: It is difficult to assay PRS1 enzyme activity separately from that of the other two isoforms (PRS2 and PRS3), a decrease in PRS enzyme activity may be assumed to reflect decreased activity of PRS1, not PRS2 or PRS3. is_a: HP:0032459 ! Abnormal phosphoribosylpyrophosphate synthetase activity property_value: http://purl.org/dc/elements/1.1/date 2019-03-09T17:35:02Z xsd:dateTime created_by: peter [Term] id: HP:0032461 name: Tiger-tail banding def: "Ab abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding." [PMID:15692466] is_a: HP:0009887 ! Abnormality of hair pigmentation property_value: http://purl.org/dc/elements/1.1/date 2019-03-09T17:43:49Z xsd:dateTime created_by: peter [Term] id: HP:0032462 name: Increased circulating palmitate level def: "An elevation beyond the normal concentration of palmitate (palmitic acid) in the blood circulation." [PMID:29167646] comment: Palmitic acid (16:0, PA) is the most common saturated fatty acid found in the human body and can be provided in the diet or synthesized endogenously from other fatty acids, carbohydrates and amino acids. PA represents 20-30% of total fatty acids (FA) in membrane phospholipids, and adipose triacylglycerols (TAG). is_a: HP:0003455 ! Elevated circulating long chain fatty acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-03-09T17:54:11Z xsd:dateTime created_by: peter [Term] id: HP:0032463 name: Reduced circulating fibronectin level def: "A reduction below the normal concentration of fibronectin the the blood circulation." [PMID:27185500] comment: Fibronectin is a large vertebrate glycoprotein that is found in soluble and insoluble forms and involved in diverse processes. Protomeric fibronectin is a dimer of subunits, each of which comprises 29-31 modules - 12 type I, two type II and 15-17 type III. Plasma fibronectin is secreted by hepatocytes and circulates in a compact conformation before it binds to cell surfaces, converts to an extended conformation and is assembled into fibronectin fibrils. synonym: "Decreased plasma fibronectin" EXACT [] is_a: HP:0010876 ! Abnormal circulating protein level property_value: http://purl.org/dc/elements/1.1/date 2019-03-09T18:08:23Z xsd:dateTime created_by: peter [Term] id: HP:0032464 name: Ureteral hypoplasia def: "Underdevelopment of the ureter." [ORCID:0000-0001-5208-3432] synonym: "Hypoplasia of the ureter" EXACT [] synonym: "Ureter hypoplasia" EXACT [] is_a: HP:0025633 ! Abnormal ureter morphology property_value: http://purl.org/dc/elements/1.1/date 2019-04-04T09:26:25Z xsd:dateTime created_by: peter [Term] id: HP:0032465 name: Bladder trabeculation def: "Muscular projections that protrude into the lumen of the bladder, criss-crossing the walls of the bladder on its inner surface." [ORCID:0000-0001-5208-3432, PMID:28904941] comment: Bladder trabeculation is caused by morphological and histological changes due to hypertrophy and hyperplasia of the bladder muscle and the infiltration of the connective tissue. synonym: "Trabecular bladder" EXACT [] is_a: HP:0025487 ! Abnormality of bladder morphology property_value: http://purl.org/dc/elements/1.1/date 2019-04-04T09:28:51Z xsd:dateTime created_by: peter [Term] id: HP:0032466 name: Aplasia of the olfactory bulb def: "Lack of formation (congenital absence) of the olfactory bulb." [ORCID:0000-0001-5208-3432, PMID:27863011] comment: Olfactory bulb aplasia causes anosmia, a complete loss of the sense of smell. synonym: "Aplastic olfactory bulb" EXACT [] synonym: "Olfactory bulb aplasia" EXACT [] is_a: HP:0040327 ! Abnormal morphology of the olfactory bulb property_value: http://purl.org/dc/elements/1.1/date 2019-04-04T09:33:50Z xsd:dateTime created_by: peter [Term] id: HP:0032467 name: Past obstetric history def: "Information about past pregnancies including gravidity (number of times a woman has been pregnant, regardless of the outcome), parity (total number of births), gestational age of births, and medical conditions related to past pregnancies." [] synonym: "Maternal medical history" EXACT [] is_a: HP:0032443 ! Past medical history property_value: http://purl.org/dc/elements/1.1/date 2019-04-04T09:46:23Z xsd:dateTime created_by: peter [Term] id: HP:0032468 name: History of stillbirth def: "One or more previous pregnancies resulted in stillbirth, defined as death of a fetus in the later stages of pregnancy (definitions in the literature vary, with cut-offs ranging from 20 to 28 weeks gestation)." [] is_a: HP:0032467 ! Past obstetric history property_value: http://purl.org/dc/elements/1.1/date 2019-04-04T09:53:23Z xsd:dateTime created_by: peter [Term] id: HP:0032469 name: Anti-asialoglycoprotein receptor antibody positivity def: "Presence of autoantibodies against the asialoglycoprotein receptor (ASGPR) in the blood circulation." [PMID:26000135] comment: Asialoglycoprotein receptor (ASGPR) is a C-type lectin, primary expressed on the sinusoidal surface of the hepatocyte. ASGPR autoantibodies is considered specific markers of autoimmune hepatitis. is_a: HP:0030057 ! Autoimmune antibody positivity property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T10:39:31Z xsd:dateTime created_by: peter [Term] id: HP:0032470 name: Monilethrix def: "The hair shaft has a beaded appearance due to the presence of elliptical nodes that have the diameter of normal hair and are medullated, regularly separated by internodes that are narrow, devoid of medulla and are the site of fracture." [PMID:22884362] comment: This feature is often accompanied by hair loss. is_a: HP:0003328 ! Abnormal hair laboratory examination property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T10:47:20Z xsd:dateTime created_by: peter [Term] id: HP:0032471 name: Focal polymicrogyria def: "Polymicrogyria affecting one or multiple small areas of the cerebral cortex." [COST:neuromig, PMID:20198472, PMID:22427329] is_a: HP:0002126 ! Polymicrogyria property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T10:52:07Z xsd:dateTime created_by: peter [Term] id: HP:0032472 name: Abnormal urine urobilinogen level def: "An abnormal concentration of urobilinogen in the urine." [] is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T11:53:12Z xsd:dateTime created_by: peter [Term] id: HP:0032473 name: Decreased urine urobilinogen def: "An abnormally reduced concentration of urobilinogen in the urine." [] comment: Urinary urobilinogen can be reduced or absent if reduced amounts of bilirubin are excreted into the intestinal tract. is_a: HP:0032472 ! Abnormal urine urobilinogen level property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T11:54:30Z xsd:dateTime created_by: peter [Term] id: HP:0032475 name: 6-layered lissencephaly comment: A malformation of the pachygyria-agyria spectrum. A 6-layered cortex is characterized by bands of ectopic neurons of varying shape and size organized in columns or clusters, lying in a reduced rim of white matter. Layers I and II of the cortex are well defined, and pyramidal and polymorphic neurons of layers III, IV, V, and VI are found more or less in their appropriate location. {xref="COST:neuromig"} is_a: HP:0001339 ! Lissencephaly property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T12:02:50Z xsd:dateTime created_by: peter [Term] id: HP:0032476 name: Abnormal circulating vitamin B6 level def: "An abnormal concentration of vitamin B6 in the blood circulation." [] is_a: HP:0004340 ! Abnormality of vitamin B metabolism property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T12:06:29Z xsd:dateTime created_by: peter [Term] id: HP:0032477 name: Elevated circulating vitamin B6 level def: "An abnormally increased concentration of vitamin B6 in the blood circulation." [] is_a: HP:0032476 ! Abnormal circulating vitamin B6 level property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T12:08:42Z xsd:dateTime created_by: peter [Term] id: HP:0032478 name: Lateral spinal meningocele def: "Protrusion of the arachnoid and dura through spinal foramina." [PMID:24311540] is_a: HP:0002435 ! Meningocele property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T12:13:41Z xsd:dateTime created_by: peter [Term] id: HP:0032479 name: Preimplantation lethality def: "It is estimated that about 40-70 percent of human embryos produced in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are viable embryos, whereas others arrest at different early stages of development. The phenotype of preimplantation lethality is inferred if IVF and ICSI cycles fail because all of an individual's embryos are arrested at early stages of development." [PMID:27545678] synonym: "Preimplantation embryonic lethality" EXACT [] is_a: HP:0001197 ! Abnormality of prenatal development or birth property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T12:33:42Z xsd:dateTime created_by: peter [Term] id: HP:0032480 name: Beta-aminoisobutyric aciduria def: "An increased amount of beta-aminoisobutyric acid in the urine. Beta-aminoisobutyric acid is a non-protein amino acid originating from the catabolism of thymine and valine." [PMID:30823446] is_a: HP:0003355 ! Aminoaciduria property_value: http://purl.org/dc/elements/1.1/date 2019-04-09T12:49:03Z xsd:dateTime created_by: peter [Term] id: HP:0032481 name: Abnormal pituitary glycoprotein hormone alpha subunit level def: "Any deviation from the normal concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081)." [] comment: This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones. is_a: HP:0003117 ! Abnormal circulating hormone level property_value: http://purl.org/dc/elements/1.1/date 2019-04-11T11:31:49Z xsd:dateTime created_by: peter [Term] id: HP:0032482 name: Decreased pituitary glycoprotein hormone alpha subunit level def: "An reduced concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081)." [] comment: This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones. synonym: "Decreased pituitary glycoprotein alpha subunit level" EXACT [] synonym: "Decreased pituitary glycoprotein polypeptide alpha subunit level" EXACT [] is_a: HP:0032481 ! Abnormal pituitary glycoprotein hormone alpha subunit level property_value: http://purl.org/dc/elements/1.1/date 2019-04-11T11:33:21Z xsd:dateTime created_by: peter [Term] id: HP:0032483 name: Abnormal fecal test result def: "Abnormal level of metabolite or other abnormal analyte result in a stool test." [] is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: http://purl.org/dc/elements/1.1/date 2019-04-11T11:37:42Z xsd:dateTime created_by: peter [Term] id: HP:0032484 name: Elevated fecal sodium def: "An elevated concentration of sodium in feces." [PMID:26358773] is_a: HP:0032483 ! Abnormal fecal test result property_value: http://purl.org/dc/elements/1.1/date 2019-04-11T11:38:39Z xsd:dateTime created_by: peter [Term] id: HP:0032485 name: Abnormal fecal osmolality def: "Abnormal concentration of feces as assessed by the total number of solute particles per kilogram." [] is_a: HP:0032483 ! Abnormal fecal test result property_value: http://purl.org/dc/elements/1.1/date 2019-04-11T11:40:55Z xsd:dateTime created_by: peter [Term] id: HP:0032486 name: Elevated fecal osmolality def: "Abnormally high concentration of feces as assessed by the total number of solute particles per kilogram." [] is_a: HP:0032485 ! Abnormal fecal osmolality property_value: http://purl.org/dc/elements/1.1/date 2019-04-11T11:41:54Z xsd:dateTime created_by: peter [Term] id: HP:0032487 name: Reduced fecal osmolality def: "Abnormally low concentration of feces as assessed by the total number of solute particles per kilogram." [] is_a: HP:0032485 ! Abnormal fecal osmolality property_value: http://purl.org/dc/elements/1.1/date 2019-04-11T11:42:10Z xsd:dateTime created_by: peter [Term] id: HP:0032488 name: Abnormal fecal pH def: "Any deviation from the normal pH of feces. The pH reflects the acidity or alkalinity of a solution on a logarithmic scale on which 7 is neutral, whereby lower values are more acid and higher values more alkaline." [] is_a: HP:0032483 ! Abnormal fecal test result property_value: http://purl.org/dc/elements/1.1/date 2019-04-11T11:44:26Z xsd:dateTime created_by: peter [Term] id: HP:0032489 name: Elevated fecal pH def: "Abnormally high fecal pH, i.e., abnormal alkalinity of feces." [] is_a: HP:0032488 ! Abnormal fecal pH property_value: http://purl.org/dc/elements/1.1/date 2019-04-11T11:45:31Z xsd:dateTime created_by: peter [Term] id: HP:0032490 name: Decreased fecal pH def: "Abnormally low fecal pH, i.e., abnormal acidity of feces." [] is_a: HP:0032488 ! Abnormal fecal pH property_value: http://purl.org/dc/elements/1.1/date 2019-04-11T11:46:07Z xsd:dateTime created_by: peter [Term] id: HP:0032491 name: Increased circulating argininosuccinic acid def: "An increased level of the non-proteinogenic amino acid argininosuccinic acid in the blood circulation." [PMID:22241104, UCDenver:tjcallahan] comment: Argininosuccinic acid is an intermediate in the urea cycle. is_a: HP:0003112 ! Abnormality of serum amino acid level property_value: http://purl.org/dc/elements/1.1/date 2019-04-11T12:01:22Z xsd:dateTime created_by: peter [Term] id: HP:0032492 name: Anti-myelin oligodendrocyte glycoprotein antibody positivity def: "Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein." [OHSU:jpgourdine, PMID:28533781] comment: Myelin oligodendrocyte glycoprotein (MOG), a member of the immunoglobulin (Ig) superfamily, is a myelin protein solely expressed at the outermost surface of myelin sheaths and oligodendrocyte membranes. MOG Abs can be found in a subset of predominantly pediatric patients with acute disseminated encephalomyelitis, aquaporin-4 seronegative neuromyelitis optica spectrum disorders, monophasic or recurrent isolated optic neuritis, or transverse myelitis, in atypical multiple sclerosis, and in N-methyl-d-aspartate receptor-encephalitis. is_a: HP:0030057 ! Autoimmune antibody positivity property_value: http://purl.org/dc/elements/1.1/date 2019-04-12T10:32:12Z xsd:dateTime created_by: peter [Term] id: HP:0032493 name: Increased circulating trypsinogen def: "An abnormally high concentration of trypsinogen in the blood circulation." [PMID:27131402] comment: An elevated immunoreactive trypsinogen test can be observed in infants with cystic fibrosis. synonym: "Increased immunoreactive trypsinogen" EXACT [] is_a: HP:0010876 ! Abnormal circulating protein level property_value: http://purl.org/dc/elements/1.1/date 2019-04-12T10:39:08Z xsd:dateTime created_by: peter [Term] id: HP:0032495 name: Abnormal terminal:vellus ratio def: "A deviation from the normal proportion of terminal to vellus hairs." [PMID:12894995] comment: Scalp hairs comprise large terminal hairs and small vellus hairs. Terminal hairs are conspicuous and exceed 0.03 mm in diameter and 1 cm in length, and may be pigmented and medullated. Vellus hairs are inconspicuous and are 0.03 mm or less in diameter and less than 1 cm in length and lack melanin and medulla. is_a: HP:0003328 ! Abnormal hair laboratory examination property_value: http://purl.org/dc/elements/1.1/date 2019-04-12T11:32:25Z xsd:dateTime created_by: peter [Term] id: HP:0032496 name: Elevated terminal:vellus ratio def: "An increased proportion of terminal hairs compared to vellus hairs." [PMID:23044568] comment: A terminal:vellus ratio over 7:1 is characteristic of chronic telogen effluvium. is_a: HP:0032495 ! Abnormal terminal:vellus ratio property_value: http://purl.org/dc/elements/1.1/date 2019-04-12T11:35:40Z xsd:dateTime created_by: peter [Term] id: HP:0032497 name: Reduced terminal:vellus ratio def: "A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia." [PMID:23044568] comment: An decreased proportion of terminal hairs compared to vellus hairs. is_a: HP:0032495 ! Abnormal terminal:vellus ratio property_value: http://purl.org/dc/elements/1.1/date 2019-04-12T11:38:06Z xsd:dateTime created_by: peter [Term] id: HP:0032499 name: Giant neutrophil granules def: "The presence of abnormally large granules in neutrophils. This finding can be appreciated on a peripheral blood smear. The finding is characteristic of Chediak Higashi syndrome. The giant granules are derived from azurophil granules, whereas peroxidase-negative granules are not involved in their formation." [PMID:9665278] comment: In Chediak Higashi syndrome, stimulus-induced giant granule mobilization is severely reduced, which may contribute to the propensity for severe bacterial infections. is_a: HP:0011992 ! Abnormality of neutrophil morphology property_value: http://purl.org/dc/elements/1.1/date 2019-05-23T22:49:33Z xsd:dateTime created_by: peter [Term] id: HP:0032500 name: Exacerbated by tobacco use def: "Applied to a sign or symptom that is worsened by smoking tobacco products." [] synonym: "Aggravated by tobacco use" EXACT [] synonym: "Exacerbated by smoking" EXACT [] synonym: "Smoking or tobacco use exacerbates symptoms" EXACT [] is_a: HP:0025285 ! Aggravated by property_value: http://purl.org/dc/elements/1.1/date 2019-05-23T22:51:26Z xsd:dateTime created_by: peter [Term] id: HP:0032501 name: Exacerbated by contraceptive medication def: "Applied to a sign or symptom that is worsened by taking contraceptive medication." [] synonym: "Contraceptive pills aggravate symptoms" EXACT [] is_a: HP:0025285 ! Aggravated by property_value: http://purl.org/dc/elements/1.1/date 2019-05-23T22:53:32Z xsd:dateTime created_by: peter [Term] id: HP:0032502 name: Exacerbated by barbiturate medication def: "Applied to a sign or symptom that is worsened by taking barbituates." [] synonym: "Barbiturates produce worsening" EXACT [] is_a: HP:0025285 ! Aggravated by property_value: http://purl.org/dc/elements/1.1/date 2019-05-23T22:55:06Z xsd:dateTime created_by: peter [Term] id: HP:0032503 name: Ameliorated by ethanol ingestion def: "Applies to a sign or symptom that is improved or made more bearable by drinking alcohol (ethanol)." [] synonym: "Ethanol reduces manifestations" EXACT [] is_a: HP:0025254 ! Ameliorated by property_value: http://purl.org/dc/elements/1.1/date 2019-05-23T22:56:25Z xsd:dateTime created_by: peter [Term] id: HP:0032504 name: Lhermitte's sign def: "An electric shock-like sensation that occurs on flexion of the neck. This sensation radiates down the spine, often into the legs, arms, and sometimes to the trunk." [PMID:26019410] comment: Lhermitte's sign is caused by miscommunication between the nerves that have become demyelinated. The pathophysiology of Lhermitte's sign was described as the stretching of the hyper excitable demyelinated dorsal column of the spinal cord, particularly at the cervical level, thus triggering an electric shock-like sensation. synonym: "Barber chair phenomenon" EXACT [] synonym: "Lhermitte's phenomenon" EXACT [] is_a: HP:0012638 ! Abnormality of nervous system physiology property_value: http://purl.org/dc/elements/1.1/date 2019-05-23T22:58:55Z xsd:dateTime created_by: peter [Term] id: HP:0032505 name: Hydrophobia def: "Pharyngeal spasms provoked by an attempt to drink." [PMID:30564365] comment: Hydrophobia has been described as a characteristic finding in rabies and can prevent patients from drinking despite intense thirst. is_a: HP:0000708 ! Behavioral abnormality property_value: http://purl.org/dc/elements/1.1/date 2019-05-23T23:03:09Z xsd:dateTime created_by: peter [Term] id: HP:0032506 name: Alien limb phenomenon def: "Alien limb phenomenon refers to involuntary motor activity of a limb in conjunction with the feeling of estrangement from that limb." [PMID:23572346] comment: Alien limb serves as a diagnostic feature of corticobasal syndrome. is_a: HP:0004305 ! Involuntary movements property_value: http://purl.org/dc/elements/1.1/date 2019-05-23T23:05:15Z xsd:dateTime created_by: peter [Term] id: HP:0032507 name: Labiomental fasciculations def: "Fasciculations affecting the tongue muscle and the musculature of the chin." [] synonym: "Fasciculations, labiomental" EXACT [] is_a: HP:0007089 ! Facial-lingual fasciculations property_value: http://purl.org/dc/elements/1.1/date 2019-05-23T23:07:00Z xsd:dateTime created_by: peter [Term] id: HP:0032508 name: Polyembolokoilamania def: "Habitual insertion of foreign bodies into bodily orifices." [PMID:22690353] is_a: HP:0000708 ! Behavioral abnormality property_value: http://purl.org/dc/elements/1.1/date 2019-05-23T23:11:22Z xsd:dateTime created_by: peter [Term] id: HP:0032509 name: Onychotillomania def: "Onychotillomania is characterized by the compulsive or irresistible urge in patients to pick at, pull off, or harmfully bite or chew their nails." [PMID:26985115] comment: Onychotillomania is not to be confused with onychophagia which is self-induced damage to nails caused by nail biting. is_a: HP:0000708 ! Behavioral abnormality property_value: http://purl.org/dc/elements/1.1/date 2019-05-23T23:17:34Z xsd:dateTime created_by: peter [Term] id: HP:0032510 name: Tendon pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to a tendon." [] is_a: HP:0012531 ! Pain property_value: http://purl.org/dc/elements/1.1/date 2019-05-23T23:19:19Z xsd:dateTime created_by: peter [Term] id: HP:0032511 name: Superiorly positioned umbilicus synonym: "The position of the umbilicus (belly button) is abnormally high (superior)." EXACT [] is_a: HP:0001551 ! Abnormal umbilicus morphology property_value: http://purl.org/dc/elements/1.1/date 2019-05-23T23:22:24Z xsd:dateTime created_by: peter [Term] id: HP:0032513 name: Four-vessel umbilical cord def: "Four-vessel umbilical cord containing two arteries and two veins." [PMID:21391749] comment: A normal umbilical cord contains two umbilical arteries and one umbilical vein. is_a: HP:0011403 ! Abnormal umbilical cord blood vessels property_value: http://purl.org/dc/elements/1.1/date 2019-05-23T23:25:42Z xsd:dateTime created_by: peter [Term] id: HP:0032514 name: Duplicated lacrimal punctum def: "A congenital developmental anomaly characterized by the presence of two (instead of the normal one) lacrimal punctum on one or both sides of the face." [PMID:19875171] synonym: "Double lacrimal puncta" EXACT [] synonym: "Lacrimal punctum, duplication" EXACT [] is_a: HP:0011479 ! Abnormal lacrimal punctum morphology property_value: http://purl.org/dc/elements/1.1/date 2019-05-23T23:34:54Z xsd:dateTime created_by: peter [Term] id: HP:0032515 name: Deep dermatophytosis def: "A type of invasive dermatophyte infection of the deep dermis characterized by extensive dermal infiltration by fungal elements." [PMID:20092423] comment: Deep dermatophytosis is is found primarily in immunocompromised patients with chronic dermatophytosis. This form of invasive disease may result from follicular rupture with direct cutaneous invasion, sometimes augmented by trauma or topical corticosteroid creams. It is not necessarily associated with hair follicles and tends to be more rapid in onset, larger, and extend deeper than Majocchi's granuloma. These infections can form clusters of granulomas, pseudomycetomas, lymphedema and draining sinuses. is_a: HP:0032516 ! Invasive dermatophyte infection property_value: http://purl.org/dc/elements/1.1/date 2019-05-26T10:20:58Z xsd:dateTime created_by: peter [Term] id: HP:0032516 name: Invasive dermatophyte infection def: "Infection that extends deeply into the dermins by dermatophytes, fungi that typically cause different types of superficial infection (tinea) or skin, hair, or nails." [PMID:20092423] comment: The most common presentation of dermatophytosis in clinical practice is the appearance of scaly, cutaneous lesions found on the trunk in tinea coporis (ringworm), the feet or toes in tinea pedis (athlete's foot), the crural fold in tinea cruris (jock itch), the scalp in tinea capitis (cradle cap), or a discoloration of the fingernails or toenails in tinea unguium (onychomycosis). Dermatophytosis is a typically noninvasive infection but can evolve into a more aggressive disease in the immunocompromised host. is_a: HP:0032162 ! Unusual skin infection property_value: http://purl.org/dc/elements/1.1/date 2019-05-26T10:24:20Z xsd:dateTime created_by: peter [Term] id: HP:0032517 name: Majocchi's granuloma def: "Majocchi's granuloma (MG) is an inflammatory and granulomatous, dermatophytic infection characterized by a granulomatous inflammation around the hair follicle. Histopathologically, MG demonstrates a nodular perifollicular granulomatous infiltrate of lymphoid cells, macrophages, epithelioid cells, multinucleated giant cells, and neutrophils. Unlike superficial dermatophytoses, fungal hyphae and spores can be detected not only on the surface of the epidermis but also within or around the hair follicles." [PMID:22435879, PMID:29861637] comment: Majocchi's granuloma (MG) is classified into two forms, depending on the affected individual's health situation and clinical picture. The first form is mainly observed in healthy individuals and is defined as a perifollicular, papular form induced by penetrating trauma that is mostly observed in the lower extremities. The second form is granulomatous, related to immunosuppression, seen in a nodular form, and usually appears on the upper extremities. The main cause of MG is Trichophyton rubrum, followed by T. mentagrophytes, T. violaceum, and T. tonsurans. However, several fungi, such as T. interdigitale, Microsporum canis, Nannizzia gypsea (former M. gypseum), Epidermophyton floccosum, and Aspergillus species, can also cause MG. is_a: HP:0032516 ! Invasive dermatophyte infection property_value: http://purl.org/dc/elements/1.1/date 2019-05-26T10:32:18Z xsd:dateTime created_by: peter [Term] id: HP:0032518 name: Disseminated dermatophytosis def: "A type of invasive dermatophyte infection characterized by vascular involvement and dissemination to other organs." [PMID:20092423, PMID:29861637] comment: Disseminated dermatophytosis tends to occur in patients with both defi cient T cell-mediated immunity and an impaired infl ammatory response. This process occurs either by direct extension, draining lymphatics, or hematogenous spread. It can present with involvement of distant skin areas, lymph nodes, bone, muscle, liver, spleen, testes or the central nervous system. Ultimately, disseminated infection can result in bacterial superinfection, osteomyelitis, organ dysfunction and eventual death. is_a: HP:0032516 ! Invasive dermatophyte infection property_value: http://purl.org/dc/elements/1.1/date 2019-05-26T10:37:28Z xsd:dateTime created_by: peter [Term] id: HP:0032519 name: Increased Burr cell count def: "Burr cells, also known as echinocytes, have a speculated border over the entire cell surface. Burr cells are commonly found in both end-stage renal disease and liver disease. Small numbers of Burr cells are commonly found in healthy individuals." [PMID:5614071] is_a: HP:0001877 ! Abnormal erythrocyte morphology property_value: http://purl.org/dc/elements/1.1/date 2019-05-26T11:08:57Z xsd:dateTime created_by: peter [Term] id: HP:0032520 name: Masseter muscular weakness def: "Reduced strength of the masseter muscle, whose primary function is to elevate the mandible and thereby raise the mandible towards the maxilla, closing the jaw." [] is_a: HP:0031815 ! Abnormal oral physiology property_value: http://purl.org/dc/elements/1.1/date 2019-05-26T11:14:27Z xsd:dateTime created_by: peter [Term] id: HP:0032521 name: Self hugging def: "Involuntary, tic-like movements consisted of crossing both arms across the chest and tensing the body or clasping the hands and squeezing the arms to the sides. The movements last a few seconds and may occur in series or flurries, generally accompanied by facial grimacing and occasional grunting." [PMID:8132119] comment: This is a characteristic behavior in Smith-Magenis syndrome. synonym: "Spasmodic upper-body squeeze" EXACT [] is_a: HP:0000708 ! Behavioral abnormality property_value: http://purl.org/dc/elements/1.1/date 2019-05-26T11:19:58Z xsd:dateTime created_by: peter [Term] id: HP:0032522 name: Ameliorated by immunosuppresion def: "Applies to a sign or symptom that is improved or made more bearable by treatment with immunosuppresive medication." [] synonym: "Immunosupressive therapy improves condition" EXACT [] is_a: HP:0025254 ! Ameliorated by property_value: http://purl.org/dc/elements/1.1/date 2019-05-26T11:24:41Z xsd:dateTime created_by: peter [Term] id: HP:0032523 name: Tendon thickening def: "An abnormal increase in the thickness (diameter) of a tendon." [PMID:24932450] is_a: HP:0100261 ! Abnormal tendon morphology property_value: http://purl.org/dc/elements/1.1/date 2019-05-26T11:35:27Z xsd:dateTime created_by: peter [Term] id: HP:0032524 name: Long thumb def: "Length of the thumb is greater than normal." [PMID:7246605] is_a: HP:0001172 ! Abnormal thumb morphology property_value: http://purl.org/dc/elements/1.1/date 2019-05-26T11:38:36Z xsd:dateTime created_by: peter [Term] id: HP:0032525 name: Aggravated by acetylcholinesterase inhibitor def: "Applied to a sign or symptom that is worsened by treatment with an acetylcholinesterase inhibitor such as tensilon (edrophonium) or pyridostigmine (Mestinon)." [] is_a: HP:0025285 ! Aggravated by property_value: http://purl.org/dc/elements/1.1/date 2019-05-26T11:44:24Z xsd:dateTime created_by: peter [Term] id: HP:0032526 name: Ameliorated by acetylcholinesterase inhibitor def: "Applies to a sign or symptom that is improved or made more bearable by an acetylcholinesterase inhibitor such as mestinon or tensilon." [] is_a: HP:0025254 ! Ameliorated by property_value: http://purl.org/dc/elements/1.1/date 2019-05-26T11:47:48Z xsd:dateTime created_by: peter [Term] id: HP:0032527 name: Inferiorly positioned umbilicus def: "The position of the umbilicus (belly button) is abnormally low (inferior)." [] synonym: "Low set umbilicus" EXACT [] synonym: "Low-set umbilicus" EXACT [] is_a: HP:0001551 ! Abnormal umbilicus morphology property_value: http://purl.org/dc/elements/1.1/date 2019-05-26T11:50:43Z xsd:dateTime created_by: peter [Term] id: HP:0032528 name: Elevated urinary 4-hydroxybutyric acid def: "An increased amount of 4-hydroxybutyric acid in the urine." [] comment: A 4-hydroxy monocarboxylic acid that is butyric acid in which one of the hydrogens at position 4 is replaced by a hydroxy group. is_a: HP:0040156 ! Elevated urinary carboxylic acid property_value: http://purl.org/dc/elements/1.1/date 2019-05-27T12:47:50Z xsd:dateTime created_by: peter [Term] id: HP:0032529 name: Elevated circulating gamma-aminobutyric acid concentration def: "An increased concentration of gamma-aminobutyric acid (GABA) in the blood circulation." [PMID:25485164] comment: Gamma-aminobutyric acid (GABA) is the primary inhibitory neurotransmitter known to counterbalance the action of the excitatory neurotransmitter glutamate. synonym: "Elevated circulating GABA concentration" EXACT HP:0045077 [] is_a: HP:0004354 ! Abnormal circulating carboxylic acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-05-27T12:51:41Z xsd:dateTime created_by: peter [Term] id: HP:0032530 name: Decreased succinic semialdehyde dehydrogenase activity def: "Reduced enzyme activity of succinic semialdehyde dehydrogenase (SSADH)." [PMID:25485164] comment: Succinic semialdehyde dehydrogenase catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA). is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity property_value: http://purl.org/dc/elements/1.1/date 2019-05-27T12:55:45Z xsd:dateTime created_by: peter [Term] id: HP:0032531 name: Elevated CSF gamma-aminobutyric acid concentration comment: Abnormally increased level of gamma-amino butyric acid (GABA) in the cerebrospinal fluid (CSF). {xref="PMID:25485164"} is_a: HP:0500183 ! Abnormal CSF carboxylic acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-05-27T12:58:14Z xsd:dateTime created_by: peter [Term] id: HP:0032532 name: Elevated CSF 4-hydroxybutyric acid concentration def: "Abnormally increased level of 4-hydroxybutyric acid in the cerebrospinal fluid (CSF)." [PMID:25485164] is_a: HP:0500183 ! Abnormal CSF carboxylic acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-05-27T13:00:12Z xsd:dateTime created_by: peter [Term] id: HP:0032533 name: Elevated circulating acetone def: "An increased level of acetone in the blood circulation. Acetone is one of the predominant ketone bodies." [PMID:28278308] is_a: HP:0001946 ! Ketosis property_value: http://purl.org/dc/elements/1.1/date 2019-05-27T13:06:14Z xsd:dateTime created_by: peter [Term] id: HP:0032534 name: Exacerbated by methylxanthine ingestion def: "Applied to a sign or symptom that is worsened by ingestion of food containing a methylxanthine compound (for instance, coffee, caffeine, chocolate)." [] synonym: "Methylxanthines produce worsening" EXACT [] is_a: HP:0025285 ! Aggravated by property_value: http://purl.org/dc/elements/1.1/date 2019-05-27T13:08:24Z xsd:dateTime created_by: peter [Term] id: HP:0032535 name: Cervical (neck) def: "Applies to an abnormality that is situated in the neck." [] is_a: HP:0012836 ! Spatial pattern property_value: http://purl.org/dc/elements/1.1/date 2019-05-27T13:12:21Z xsd:dateTime created_by: peter [Term] id: HP:0032536 name: Increased number of lymph nodes def: "An abnormally elevated number of lymph nodes in an anatomical region." [PMID:20301630] comment: For example, lymphedema-distichiasis syndrome is characterized by an increased number of lymphatic vessels and inguinal lymph nodes. is_a: HP:0002733 ! Abnormality of the lymph nodes property_value: http://purl.org/dc/elements/1.1/date 2019-05-27T13:15:53Z xsd:dateTime created_by: peter [Term] id: HP:0032537 name: Delayed fracture healing def: "A delay in healing of a fracture past the expected duration." [PMID:24857030] comment: Initially, after injury a hematoma forms and this is followed by inflammatory cells arriving at the fracture site to debride the wound. During the soft callus phase of healing a collar of bone forms at the periosteum adjacent to the fractured bone, and cells in the periosteum proliferate and differentiate into chondrocytes that form cartilage that bridges the fracture gap. During the hard callus phase, the cartilage is replaced by bone through endochondral ossification, possibly by transformation of some of the chondrocytes into osteoblasts. Finally, through remodeling, newly formed bone is restored to its pre-injured state. Depending on the site of the fracture, healing usually takes from 3 to 12 weeks in healthy adults. is_a: HP:0011843 ! Abnormality of skeletal physiology property_value: http://purl.org/dc/elements/1.1/date 2019-05-27T13:23:40Z xsd:dateTime created_by: peter [Term] id: HP:0032538 name: Pretibial dimple def: "A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lenghten as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg." [PMID:23444103] is_a: HP:0010781 ! Skin dimple property_value: http://purl.org/dc/elements/1.1/date 2019-05-27T13:33:38Z xsd:dateTime created_by: peter [Term] id: HP:0032539 name: Joint extensor surface localization def: "Applies to an abnormality that is situated in extensor surface of the joint. The extensor surface refers to the skin on the opposite side of a joint." [] is_a: HP:0012836 ! Spatial pattern property_value: http://purl.org/dc/elements/1.1/date 2019-05-27T13:48:37Z xsd:dateTime created_by: peter [Term] id: HP:0032540 name: Joint flexor surface localization def: "Applies to an abnormality that is situated in flexor surface of the joint. The flexor surface refers to the skin that touches when a joint is bent (flexed)." [] is_a: HP:0012836 ! Spatial pattern property_value: http://purl.org/dc/elements/1.1/date 2019-05-27T13:51:06Z xsd:dateTime created_by: peter [Term] id: HP:0032541 name: Knuckle pad def: "Knuckle pads are benign fibrofatty subcutaneous pads located over the proximal interphalangeal (PIP) joints that can be mistaken for arthritis. Rarely they affect the dorsal aspect of the metacarpophalangeal (MCP) joints. Clinically they are painless and often affect both hands in an asymmetrical pattern." [PMID:26672439] comment: Knuckle pads can be associated with camptodactyly (fixed flexion deformity of the interphalangeal joints of the little finger) as overlapping symptoms and are associated with many genetic factors. Although they can be associated to repetitive local trauma (for example repetitive batting of the knuckles, e.g. by boxers or suction the fingers by children), coexist with palmar (Dupuytren disease) or plantar fibromatosis (Ledderhose disease) or Peyronie disease, most knuckle pads are idiopathic. synonym: "Knuckle pads on dorsal aspect of finger joints" EXACT HP:0045078 [] is_a: HP:0011356 ! Regional abnormality of skin property_value: http://purl.org/dc/elements/1.1/date 2019-05-27T15:11:27Z xsd:dateTime created_by: peter [Term] id: HP:0032542 name: Exacerbated by pregnancy def: "Applied to a sign or symptom that is worsened by being pregnant." [] is_a: HP:0025285 ! Aggravated by property_value: http://purl.org/dc/elements/1.1/date 2019-05-27T15:16:46Z xsd:dateTime created_by: peter [Term] id: HP:0032543 name: Lithoptysis def: "Expectoration (coughing up) of a broncholith. Broncholithiasis is defined as the presence of calculi in the tracheobronchial tree. It is a rare disease but can be characterized by clinical and radiological findings of a calcified lymph node eroding bronchial wall and opening into the bronchial lumen." [PMID:23949189, PMID:29970776] is_a: HP:0032016 ! Abnormal sputum property_value: http://purl.org/dc/elements/1.1/date 2019-05-27T15:19:14Z xsd:dateTime created_by: peter [Term] id: HP:0040004 name: Abnormality of corneal shape xref: UMLS:C4022500 is_a: HP:0000481 ! Abnormal cornea morphology created_by: HPO:skoehler [Term] id: HP:0040006 name: Mortality/Aging xref: UMLS:C4022499 is_a: HP:0031797 ! Clinical course created_by: HPO:skoehler [Term] id: HP:0040007 name: Absent pigmentation of chest def: "Lack of skin pigmentation (coloring) of the chest." [HPO:skoehler] synonym: "Lack of skin coloring on chest" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022498 is_a: HP:0200098 ! Absent skin pigmentation created_by: HPO:skoehler [Term] id: HP:0040008 name: Aplasia of facial bones synonym: "Absence of facial bones" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Agenesis of facial bones" EXACT [ORCID:0000-0001-5889-4463] synonym: "Aplasia of facial skeleton" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of facial bones" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Failure of development of facial skeleton" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Missing facial bones" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1385254 xref: UMLS:C4022497 xref: UMLS:C4280300 xref: UMLS:C4280301 is_a: HP:0011821 ! Abnormality of facial skeleton created_by: HPO:skoehler [Term] id: HP:0040009 name: Hyperparakeratosis def: "Abnormal keratinization of the epidermal stratum coreum (horny layer) with increased keratin formation, preservation of the nuclei in the superficial cells, and absence of the stratum granulosum." [] xref: SNOMEDCT_US:125554003 xref: UMLS:C1265968 is_a: HP:0000962 ! Hyperkeratosis is_a: HP:0001036 ! Parakeratosis created_by: HPO:skoehler [Term] id: HP:0040010 name: Small posterior fossa xref: UMLS:C4022496 is_a: HP:0000932 ! Abnormality of the posterior cranial fossa created_by: HPO:skoehler [Term] id: HP:0040011 name: Flat posterior fossa xref: UMLS:C4022495 is_a: HP:0000932 ! Abnormality of the posterior cranial fossa created_by: HPO:skoehler [Term] id: HP:0040012 name: Chromosome breakage def: "Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents." [HPO:probinson, PMID:12407692] synonym: "High frequency of chromosome breaks in lymphocytes" EXACT [] synonym: "Increased chromosomal breakage" EXACT [] synonym: "Increased chromosomal breakage rate" EXACT [] synonym: "Multiple chromosomal breaks" EXACT [] synonym: "Tendency to chromosomal breakage" EXACT [] xref: MSH:D019457 xref: UMLS:C0376628 is_a: HP:0003220 ! Abnormality of chromosome stability created_by: HPO:skoehler [Term] id: HP:0040013 name: Decreased mitochondrial number xref: UMLS:C4022493 is_a: HP:0012102 ! Abnormal mitochondrial number created_by: HPO:skoehler [Term] id: HP:0040014 name: Increased mitochondrial number xref: UMLS:C4022492 is_a: HP:0012102 ! Abnormal mitochondrial number created_by: HPO:skoehler [Term] id: HP:0040015 name: Increased activity of mitochondrial respiratory chain xref: UMLS:C4022491 is_a: HP:0011922 ! Abnormal activity of mitochondrial respiratory chain created_by: HPO:skoehler [Term] id: HP:0040016 name: Prominent coccyx synonym: "Prominent tailbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022490 is_a: HP:0008519 ! Abnormality of the coccyx created_by: HPO:skoehler [Term] id: HP:0040017 name: Protruding coccyx synonym: "Protruding tailbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022489 is_a: HP:0008519 ! Abnormality of the coccyx created_by: HPO:skoehler [Term] id: HP:0040018 name: Clinodactyly of hallux synonym: "Curvature of big toe" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022488 xref: UMLS:C4280299 is_a: HP:0001863 ! Toe clinodactyly is_a: HP:0010051 ! Deviation of the hallux created_by: HPO:skoehler [Term] id: HP:0040019 name: Finger clinodactyly synonym: "Curvature of finger" BROAD layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:17268007 xref: UMLS:C0265610 xref: UMLS:C4280298 is_a: HP:0004097 ! Deviation of finger is_a: HP:0030084 ! Clinodactyly created_by: HPO:skoehler [Term] id: HP:0040020 name: Radial deviation of the 5th finger xref: UMLS:C4022487 is_a: HP:0009179 ! Deviation of the 5th finger is_a: HP:0009466 ! Radial deviation of finger created_by: HPO:skoehler [Term] id: HP:0040021 name: Radial deviation of the thumb xref: UMLS:C2168996 is_a: HP:0009466 ! Radial deviation of finger is_a: HP:0009603 ! Deviation of the thumb created_by: HPO:skoehler [Term] id: HP:0040022 name: Clinodactyly of the 2nd finger synonym: "Curvature of index finger" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022486 is_a: HP:0009468 ! Deviation of the 2nd finger is_a: HP:0040019 ! Finger clinodactyly created_by: HPO:skoehler [Term] id: HP:0040023 name: Clinodactyly of the thumb synonym: "Curvature of thumb" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1856888 xref: UMLS:C4280297 is_a: HP:0009603 ! Deviation of the thumb is_a: HP:0040019 ! Finger clinodactyly created_by: HPO:skoehler [Term] id: HP:0040024 name: Clinodactyly of the 3rd finger synonym: "Curvature of middle finger" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022485 xref: UMLS:C4280296 is_a: HP:0009317 ! Deviation of the 3rd finger is_a: HP:0040019 ! Finger clinodactyly created_by: HPO:skoehler [Term] id: HP:0040025 name: Clinodactyly of the 4th finger synonym: "Curvature of ring finger" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022484 xref: UMLS:C4280295 is_a: HP:0009273 ! Deviation of the 4th finger is_a: HP:0040019 ! Finger clinodactyly created_by: HPO:skoehler [Term] id: HP:0040030 name: Chorioretinal hypopigmentation xref: UMLS:C4022483 is_a: HP:0007661 ! Abnormality of chorioretinal pigmentation created_by: HPO:skoehler [Term] id: HP:0040031 name: Chorioretinal hyperpigmentation xref: UMLS:C4022482 is_a: HP:0007661 ! Abnormality of chorioretinal pigmentation created_by: HPO:skoehler [Term] id: HP:0040032 name: Hypoplasia of the upper eyelids synonym: "Decreased size of upper eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Hypotrophic upper eyelid" RELATED [ORCID:0000-0001-5889-4463] synonym: "Short upper eyelid" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Small upper eyelid" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of upper eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4022481 is_a: HP:0430009 ! Hypoplasia of eyelid created_by: HPO:skoehler [Term] id: HP:0040033 name: Aplasia/Hypoplasia of the fifth metatarsal bone synonym: "Absent/small 5th long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped 5th long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022480 is_a: HP:0001964 ! Aplasia/Hypoplasia of metatarsal bones is_a: HP:0008089 ! Abnormality of the fifth metatarsal bone created_by: HPO:skoehler [Term] id: HP:0040034 name: Abnormality of the second metatarsal bone synonym: "Abnormality of the 2nd long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022479 is_a: HP:0001832 ! Abnormal metatarsal morphology created_by: HPO:skoehler [Term] id: HP:0040035 name: Abnormality of the fourth metatarsal bone synonym: "Abnormality of the 4th long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022478 is_a: HP:0001832 ! Abnormal metatarsal morphology created_by: HPO:skoehler [Term] id: HP:0040036 name: Onychogryposis of fingernail def: "Thickened fingernails." [] synonym: "Overgrowth and curving of fingernail" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022477 is_a: HP:0001805 ! Onychogryposis created_by: HPO:skoehler [Term] id: HP:0040037 name: obsolete Thin fingernail (obsolete) is_obsolete: true replaced_by: HP:0012742 created_by: HPO:skoehler [Term] id: HP:0040038 name: obsolete Thin toenail is_obsolete: true replaced_by: HP:0012746 created_by: HPO:skoehler [Term] id: HP:0040039 name: Onycholysis of fingernails synonym: "Detachment of fingernails" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Onycholysis of fingernail" EXACT [] xref: UMLS:C3553044 is_a: HP:0001231 ! Abnormal fingernail morphology is_a: HP:0001806 ! Onycholysis created_by: HPO:skoehler [Term] id: HP:0040040 name: Toenail onycholysis def: "Painless and spontaneous separation of a toenail from the nail bed." [] synonym: "Detachment of toenails" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Onycholysis of toenails" EXACT [] xref: UMLS:C4022476 is_a: HP:0001806 ! Onycholysis is_a: HP:0008388 ! Abnormal toenail morphology created_by: HPO:skoehler [Term] id: HP:0040042 name: Aplasia of the eccrine sweat glands synonym: "Absent eccrine sweat glands" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4022475 is_a: HP:0007592 ! Aplasia/Hypoplastia of the eccrine sweat glands is_a: HP:0011136 ! Aplasia of the sweat glands created_by: HPO:skoehler [Term] id: HP:0040043 name: Hypoplasia of the eccrine sweat glands synonym: "Underdeveloped major sweat glands" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4022474 is_a: HP:0007387 ! Hypoplastic sweat glands is_a: HP:0007592 ! Aplasia/Hypoplastia of the eccrine sweat glands created_by: HPO:skoehler [Term] id: HP:0040044 name: Hypoplasia of the diaphragm synonym: "Underdeveloped diaphragm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022473 is_a: HP:0010315 ! Aplasia/Hypoplasia of the diaphragm created_by: HPO:skoehler [Term] id: HP:0040045 name: Abnormality of the hemidiaphragms xref: UMLS:C4022472 is_a: HP:0000775 ! Abnormality of the diaphragm created_by: HPO:skoehler [Term] id: HP:0040046 name: Abnormality of the left hemidiaphragm xref: UMLS:C4022471 is_a: HP:0040045 ! Abnormality of the hemidiaphragms created_by: HPO:skoehler [Term] id: HP:0040047 name: Abnormality of the right hemidiaphragm xref: UMLS:C4022470 is_a: HP:0040045 ! Abnormality of the hemidiaphragms created_by: HPO:skoehler [Term] id: HP:0040048 name: Aplasia of the left hemidiaphragm xref: UMLS:C4022469 is_a: HP:0040046 ! Abnormality of the left hemidiaphragm created_by: HPO:skoehler [Term] id: HP:0040049 name: Macular edema def: "Thickening of the retina that takes place due to accumulation of fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease." [ORCID:0000-0003-0986-4123] synonym: "Macular oedema" EXACT HP:0045076 [] xref: MSH:D008269 xref: SNOMEDCT_US:37231002 xref: UMLS:C0271051 is_a: HP:0000969 ! Edema is_a: HP:0030498 ! Macular thickening created_by: HPO:skoehler [Term] id: HP:0040050 name: Sparse upper eyelashes synonym: "Hypotrichosis of upper eyelashes" EXACT [ORCID:0000-0001-5889-4463] synonym: "Partial absence of upper eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Sparse upper eyelashes" EXACT layperson [] xref: UMLS:C4022468 is_a: HP:0000653 ! Sparse eyelashes is_a: HP:0040051 ! Abnormality of upper eyelashes created_by: HPO:skoehler [Term] id: HP:0040051 name: Abnormality of upper eyelashes synonym: "Abnormality of upper eyelashes" EXACT layperson [] xref: UMLS:C4022467 is_a: HP:0000499 ! Abnormal eyelash morphology created_by: HPO:skoehler [Term] id: HP:0040052 name: Abnormality of lower eyelashes synonym: "Abnormality of lower eyelashes" EXACT layperson [] xref: UMLS:C4022466 is_a: HP:0000499 ! Abnormal eyelash morphology created_by: HPO:skoehler [Term] id: HP:0040053 name: Long lower eyelashes synonym: "Ciliary trichomegaly of lower eyelashes" EXACT [] synonym: "Increased length of lower eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Long lower eyelashes" EXACT layperson [] xref: UMLS:C4022465 is_a: HP:0000527 ! Long eyelashes is_a: HP:0040052 ! Abnormality of lower eyelashes created_by: HPO:skoehler [Term] id: HP:0040054 name: Short upper eyelashes synonym: "Decreased length of upper eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Short upper eyelashes" EXACT layperson [] xref: UMLS:C4022464 is_a: HP:0010764 ! Short eyelashes is_a: HP:0040051 ! Abnormality of upper eyelashes created_by: HPO:skoehler [Term] id: HP:0040055 name: Short lower eyelashes synonym: "Decreased length of lower eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Short lower eyelashes" EXACT layperson [] xref: UMLS:C4022463 is_a: HP:0010764 ! Short eyelashes is_a: HP:0040052 ! Abnormality of lower eyelashes created_by: HPO:skoehler [Term] id: HP:0040056 name: Absent upper eyelashes synonym: "Absent upper eyelashes" EXACT layperson [] synonym: "Agenesis of upper eyelashes" NARROW [ORCID:0000-0001-5889-4463] synonym: "Aplasia of upper eyelashes" NARROW [ORCID:0000-0001-5889-4463] synonym: "Atrichia of upper eyelashes" EXACT [] synonym: "Failure of development of upper eyelashes" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4022462 xref: UMLS:C4280255 xref: UMLS:C4280294 is_a: HP:0000561 ! Absent eyelashes created_by: HPO:skoehler [Term] id: HP:0040057 name: Abnormality of nasal hair synonym: "Abnormality of nasal hair" EXACT layperson [] synonym: "Abnormality of nose hair" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021858 is_a: HP:0000366 ! Abnormality of the nose is_a: HP:0100037 ! Abnormality of the scalp hair created_by: HPO:skoehler [Term] id: HP:0040059 name: Calcification of ribs xref: UMLS:C4022461 is_a: HP:0000772 ! Abnormality of the ribs is_a: HP:0010766 ! Ectopic calcification created_by: HPO:skoehler [Term] id: HP:0040061 name: Osteosclerosis of the radius xref: UMLS:C4022460 is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0003967 ! Sclerotic forearm bones created_by: HPO:skoehler [Term] id: HP:0040062 name: Slender radius xref: UMLS:C1968813 is_a: HP:0003100 ! Slender long bone is_a: HP:0003969 ! Slender forearm bones is_a: HP:0045008 ! Abnormal shape of the radius created_by: HPO:skoehler [Term] id: HP:0040063 name: Decreased adipose tissue synonym: "Decreased fat tissue" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022459 is_a: HP:0009124 ! Abnormal adipose tissue morphology created_by: HPO:skoehler [Term] id: HP:0040064 name: Abnormality of limbs synonym: "Abnormal limbs" EXACT layperson [HPO:skoehler] synonym: "Abnormality of limbs" EXACT layperson [] synonym: "Dysmelia" RELATED [HPO:probinson] synonym: "Limb anomaly" EXACT [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:445144002 xref: UMLS:C0239337 xref: UMLS:C4073131 is_a: HP:0000118 ! Phenotypic abnormality created_by: HPO:skoehler [Term] id: HP:0040065 name: Abnormal morphology of bones of the upper limbs synonym: "Abnormal shape of bones of the upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022458 is_a: HP:0002813 ! Abnormality of limb bone morphology is_a: HP:0040070 ! Abnormal upper limb bone morphology created_by: HPO:skoehler [Term] id: HP:0040066 name: Abnormal morphology of bones of the lower limbs synonym: "Abnormal shape of bones of the lower limbs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022457 is_a: HP:0002813 ! Abnormality of limb bone morphology is_a: HP:0040069 ! Abnormal lower limb bone morphology created_by: HPO:skoehler [Term] id: HP:0040068 name: Abnormality of limb bone synonym: "Abnormality of limb bone" EXACT layperson [] xref: UMLS:C4022456 is_a: HP:0000924 ! Abnormality of the skeletal system is_a: HP:0040064 ! Abnormality of limbs created_by: HPO:skoehler [Term] id: HP:0040069 name: Abnormal lower limb bone morphology synonym: "Abnormality of lower limb bone" EXACT layperson [] xref: UMLS:C4022455 is_a: HP:0002814 ! Abnormality of the lower limb created_by: HPO:skoehler [Term] id: HP:0040070 name: Abnormal upper limb bone morphology synonym: "Abnormality of upper limb bone" EXACT layperson [] xref: UMLS:C4022454 is_a: HP:0002817 ! Abnormality of the upper limb created_by: HPO:skoehler [Term] id: HP:0040071 name: Abnormal morphology of ulna xref: UMLS:C4022453 is_a: HP:0002997 ! Abnormality of the ulna is_a: HP:0011314 ! Abnormality of long bone morphology is_a: HP:0040073 ! Abnormal forearm bone morphology created_by: HPO:skoehler [Term] id: HP:0040072 name: Abnormality of forearm bone synonym: "Abnormality of forearm bone" EXACT layperson [] xref: UMLS:C4022452 is_a: HP:0002973 ! Abnormality of the forearm is_a: HP:0040070 ! Abnormal upper limb bone morphology created_by: HPO:skoehler [Term] id: HP:0040073 name: Abnormal forearm bone morphology synonym: "Abnormal shape of of forearm bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022451 is_a: HP:0040065 ! Abnormal morphology of bones of the upper limbs is_a: HP:0040072 ! Abnormality of forearm bone created_by: HPO:skoehler [Term] id: HP:0040075 name: Hypopituitarism xref: MSH:D007018 xref: SNOMEDCT_US:74728003 xref: UMLS:C0020635 is_a: HP:0011747 ! Abnormality of the anterior pituitary created_by: HPO:skoehler [Term] id: HP:0040077 name: obsolete Abnormal concentration of calcium in blood is_obsolete: true replaced_by: HP:0004363 [Term] id: HP:0040078 name: Axonal degeneration xref: UMLS:C1837496 is_a: HP:0000764 ! Peripheral axonal degeneration created_by: HPO:skoehler [Term] id: HP:0040079 name: Irregular dentition synonym: "Irregular teeth" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1856765 is_a: HP:0000164 ! Abnormality of the dentition created_by: HPO:skoehler [Term] id: HP:0040080 name: Anteverted ears xref: UMLS:C1857055 is_a: HP:0000357 ! Abnormal location of ears created_by: HPO:skoehler [Term] id: HP:0040081 name: Abnormal circulating creatine kinase concentration def: "Any deviation from the normal circulating creatine kinase concentration." [https://orcid.org/0000-0001-7941-2961] synonym: "Abnormal circulating CK concentration" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] synonym: "Abnormal circulating CPK concentration" EXACT HP:0045077 [https://orcid.org/0000-0001-7941-2961] synonym: "Abnormal circulation phospho-CK concentration" EXACT [] synonym: "Abnormal levels of creatine kinase in blood" EXACT layperson [] xref: UMLS:C4022449 is_a: HP:0011021 ! Abnormality of circulating enzyme level created_by: HPO:skoehler [Term] id: HP:0040082 name: Happy demeanor def: "A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context." [PMID:18830393] synonym: "Happy demeanor" EXACT layperson [] xref: UMLS:C1856115 is_a: HP:0100851 ! Abnormal emotion/affect behavior created_by: HPO:skoehler [Term] id: HP:0040083 name: Toe walking synonym: "Toe walking" EXACT layperson [] synonym: "Toe-walking" EXACT layperson [] xref: SNOMEDCT_US:250018006 xref: UMLS:C0427144 is_a: HP:0001288 ! Gait disturbance created_by: HPO:skoehler [Term] id: HP:0040084 name: Abnormal circulating renin synonym: "Abnormal circulating renin" EXACT layperson [] synonym: "Abnormal plasma renin" EXACT layperson [HPO:skoehler] xref: UMLS:C4021038 is_a: HP:0000847 ! Abnormality of renin-angiotensin system created_by: HPO:skoehler [Term] id: HP:0040085 name: Abnormal circulating aldosterone synonym: "Abnormal circulating aldosterone" EXACT layperson [] synonym: "Abnormal plasma aldosterone" EXACT layperson [HPO:skoehler] xref: UMLS:C0857898 is_a: HP:0000847 ! Abnormality of renin-angiotensin system created_by: HPO:skoehler [Term] id: HP:0040086 name: Abnormal prolactin level synonym: "Abnormal prolactin level" EXACT layperson [] xref: UMLS:C4022448 is_a: HP:0000830 ! Anterior hypopituitarism created_by: HPO:skoehler [Term] id: HP:0040087 name: Abnormal blood folate concentration def: "Any deviation from the normal concentration of folate in the blood circulation." [] comment: Folate is an essential water-soluble vitamin (vitamin B9) that is found in green leafy vegetables, cereals, legumes, and fruit. As a major methyl group donor, it plays an important role in one-carbon metabolism and is involved in DNA, RNA, and protein synthesis, in addition to its significant role in energy production and normal cell division. Low blood folate concentration is associated with an increased risk for neural tube defects during pregnancy. synonym: "Abnormal serum folate" EXACT [HPO:skoehler] synonym: "Abnormality of folate in blood" EXACT [] xref: UMLS:C4021037 is_a: HP:0012335 ! Abnormality of folate metabolism created_by: HPO:skoehler [Term] id: HP:0040088 name: Abnormal lymphocyte count def: "Any abnormality in the total number of lymphocytes in the blood." [] synonym: "Abnormal lymphocyte count" EXACT layperson [] synonym: "Abnormal lymphocyte counts" EXACT layperson [HPO:skoehler] synonym: "Abnormal number of lymphocytes" EXACT layperson [HPO:skoehler] synonym: "Abnormal numbers of lymphocytes" EXACT layperson [] synonym: "Abnormality of lymphocyte number" EXACT layperson [HPO:skoehler] xref: SNOMEDCT_US:165534000 xref: UMLS:C0580550 is_a: HP:0004332 ! Abnormal lymphocyte morphology is_a: HP:0011893 ! Abnormal leukocyte count created_by: HPO:skoehler [Term] id: HP:0040089 name: Abnormal natural killer cell count def: "Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes." [PMID:19278419] comment: In human peripheral blood, five NK cell subpopulations can be defined on the basis of the relative expression of the markers CD16 and CD56: (1) CD56bright CD16- (50-70% of CD56bright), (2) CD56bright CD16dim (30-50% of CD56bright), (3) CD56dim CD16-, (4) CD56dim CD16bright, and (5) CD56- CD16bright. In healthy individuals, populations (3) and (5) are numerically in the minority. synonym: "Abnormal natural killer cell count" EXACT [] synonym: "Abnormal NK cell count" EXACT HP:0045077 [] synonym: "Abnormal number of natural killer cells" EXACT [HPO:skoehler] synonym: "Abnormality of natural killer cell count" EXACT [HPO:skoehler] xref: UMLS:C4021036 is_a: HP:0012176 ! Abnormal natural killer cell morphology created_by: HPO:skoehler [Term] id: HP:0040090 name: Abnormality of the tympanic membrane def: "An abnormality of the tympanic membrane" [] comment: The tympanic membrane is considered to be the border of middle and outer ear. synonym: "Abnormality of the eardrum" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022447 is_a: HP:0000356 ! Abnormality of the outer ear is_a: HP:0000370 ! Abnormality of the middle ear created_by: HPO:skoehler [Term] id: HP:0040091 name: Asymmetry of the size of ears synonym: "Asymmetry of the size of ears" EXACT layperson [] xref: UMLS:C4022446 is_a: HP:0010722 ! Asymmetry of the ears created_by: HPO:skoehler [Term] id: HP:0040092 name: Asymmetry of the shape of the ears synonym: "Asymmetry of the shape of the ears" EXACT layperson [] xref: UMLS:C4022445 is_a: HP:0010722 ! Asymmetry of the ears created_by: HPO:skoehler [Term] id: HP:0040093 name: Asymmetry of the position of the ears synonym: "Uneven ears" BROAD layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022444 is_a: HP:0010722 ! Asymmetry of the ears created_by: HPO:skoehler [Term] id: HP:0040095 name: Neoplasm of the outer ear def: "A tumor (abnormal growth of tissue) of the outer ear." [HPO:probinson] synonym: "Outer ear tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: NCIT:C3262 xref: UMLS:C4022443 is_a: HP:0000356 ! Abnormality of the outer ear is_a: HP:0012780 ! Neoplasm of the ear created_by: HPO:skoehler [Term] id: HP:0040096 name: Neoplasm of the inner ear def: "A tumor (abnormal growth of tissue) of the inner ear." [HPO:probinson] synonym: "Inner ear tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: NCIT:C3262 xref: UMLS:C1512779 is_a: HP:0000359 ! Abnormality of the inner ear is_a: HP:0012780 ! Neoplasm of the ear created_by: HPO:skoehler [Term] id: HP:0040097 name: Neoplasm of the ceruminal gland def: "A tumor (abnormal growth of tissue) of the ceruminal gland." [HPO:probinson] synonym: "Adenoma of the ceruminous gland" EXACT [] synonym: "Ceruminoma" EXACT [] synonym: "Ceruminous adenoma" EXACT [] xref: NCIT:C3262 xref: SNOMEDCT_US:403945001 xref: SNOMEDCT_US:52707009 xref: UMLS:C0334352 is_a: HP:0040095 ! Neoplasm of the outer ear created_by: HPO:skoehler [Term] id: HP:0040098 name: Basalioma of the outer ear xref: UMLS:C4022442 is_a: HP:0002671 ! Basal cell carcinoma is_a: HP:0040095 ! Neoplasm of the outer ear created_by: HPO:skoehler [Term] id: HP:0040099 name: Abnormality of the round window xref: UMLS:C4022441 is_a: HP:0000359 ! Abnormality of the inner ear is_a: HP:0000370 ! Abnormality of the middle ear created_by: HPO:skoehler [Term] id: HP:0040100 name: Abnormality of the vestibular window synonym: "Abnormality of the oval window" EXACT [] xref: UMLS:C4021035 is_a: HP:0000359 ! Abnormality of the inner ear is_a: HP:0000370 ! Abnormality of the middle ear created_by: HPO:skoehler [Term] id: HP:0040101 name: Cutaneous atresia of the external auditory canal xref: UMLS:C4022440 is_a: HP:0000413 ! Atresia of the external auditory canal created_by: HPO:skoehler [Term] id: HP:0040102 name: Osseous atresia of the external auditory canal xref: UMLS:C4022439 is_a: HP:0000413 ! Atresia of the external auditory canal created_by: HPO:skoehler [Term] id: HP:0040103 name: Cutaneous stenosis of the external auditory canal xref: UMLS:C4022438 is_a: HP:0000402 ! Stenosis of the external auditory canal created_by: HPO:skoehler [Term] id: HP:0040104 name: Osseous stenosis of the external auditory canal xref: UMLS:C4022437 is_a: HP:0000402 ! Stenosis of the external auditory canal created_by: HPO:skoehler [Term] id: HP:0040106 name: Morphological abnormality of the lateral semicircular canal synonym: "Morphological abnormality of the horizontal semicircular canal" EXACT [] xref: UMLS:C4021034 is_a: HP:0011380 ! Morphological abnormality of the semicircular canal created_by: HPO:skoehler [Term] id: HP:0040107 name: Morphological abnormality of the posterior semicircular canal xref: UMLS:C4022436 is_a: HP:0011380 ! Morphological abnormality of the semicircular canal created_by: HPO:skoehler [Term] id: HP:0040108 name: Morphological abnormality of the anterior semicircular canal xref: UMLS:C4022435 is_a: HP:0011380 ! Morphological abnormality of the semicircular canal created_by: HPO:skoehler [Term] id: HP:0040109 name: Morphological abnormality of the utricle xref: UMLS:C4022434 is_a: HP:0011380 ! Morphological abnormality of the semicircular canal created_by: HPO:skoehler [Term] id: HP:0040110 name: Morphological abnormality of the saccule xref: UMLS:C4022433 is_a: HP:0011380 ! Morphological abnormality of the semicircular canal created_by: HPO:skoehler [Term] id: HP:0040111 name: Bilateral external ear deformity xref: UMLS:C4022432 is_a: HP:0000356 ! Abnormality of the outer ear created_by: HPO:skoehler [Term] id: HP:0040112 name: Abnormal number of tubercles xref: UMLS:C4022431 is_a: HP:0000377 ! Abnormality of the pinna created_by: HPO:skoehler [Term] id: HP:0040113 name: Old-aged sensorineural hearing impairment synonym: "Presbycusis" EXACT [] xref: MSH:D011304 xref: SNOMEDCT_US:49526009 xref: UMLS:C0033074 is_a: HP:0000407 ! Sensorineural hearing impairment created_by: HPO:skoehler [Term] id: HP:0040114 name: Absence of the reflex of the tensor tympani muscle xref: UMLS:C4022430 is_a: HP:0040120 ! Abnormality of the reflex of the tensor tympani muscle created_by: HPO:skoehler [Term] id: HP:0040115 name: Abnormality of the Eustachian tube xref: SNOMEDCT_US:204250005 xref: UMLS:C0262475 is_a: HP:0000370 ! Abnormality of the middle ear created_by: HPO:skoehler [Term] id: HP:0040116 name: Aplasia of the Eustachian tube synonym: "Absent eustachian tube" EXACT [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:75231006 xref: UMLS:C0266616 is_a: HP:0040115 ! Abnormality of the Eustachian tube created_by: HPO:skoehler [Term] id: HP:0040117 name: Atresia of the Eustachian tube xref: UMLS:C1388953 is_a: HP:0040115 ! Abnormality of the Eustachian tube created_by: HPO:skoehler [Term] id: HP:0040118 name: Stenosis of the Eustachian tube xref: SNOMEDCT_US:80101003 xref: UMLS:C0271469 is_a: HP:0040115 ! Abnormality of the Eustachian tube created_by: HPO:skoehler [Term] id: HP:0040119 name: Unilateral conductive hearing impairment xref: UMLS:C4022428 is_a: HP:0000405 ! Conductive hearing impairment created_by: HPO:skoehler [Term] id: HP:0040120 name: Abnormality of the reflex of the tensor tympani muscle xref: UMLS:C4022427 is_a: HP:0004454 ! Abnormal middle ear reflexes created_by: HPO:skoehler [Term] id: HP:0040121 name: Abnormality of the acoustic reflex def: "An abnormality in the reflexive contraction of the middle-ear muscles in response to sound stimulation." [] synonym: "Abnormal auditory reflex" EXACT [] synonym: "Abnormal middle-ear-muscles (MEM) reflex" EXACT [] synonym: "Abnormality of stapedial reflex" EXACT [] xref: UMLS:C4022426 is_a: HP:0004454 ! Abnormal middle ear reflexes created_by: HPO:skoehler [Term] id: HP:0040122 name: Impairment of the the acoustic reflex xref: UMLS:C4022425 is_a: HP:0040121 ! Abnormality of the acoustic reflex created_by: HPO:skoehler [Term] id: HP:0040123 name: Impairment of the reflex of the tensor tympani muscle xref: UMLS:C4022424 is_a: HP:0040120 ! Abnormality of the reflex of the tensor tympani muscle created_by: HPO:skoehler [Term] id: HP:0040124 name: Patent tuba eustachii synonym: "Open tuba eustachii" EXACT [] xref: UMLS:C4021033 is_a: HP:0040115 ! Abnormality of the Eustachian tube created_by: HPO:skoehler [Term] id: HP:0040126 name: Abnormal vitamin B12 level def: "A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins." [HPO:probinson] synonym: "Abnormal serum cobalamin level" EXACT [] xref: UMLS:C4021032 is_a: HP:0004341 ! Abnormality of vitamin B12 metabolism created_by: HPO:skoehler [Term] id: HP:0040127 name: Abnormal sweat homeostasis def: "An abnormality of the composition of sweat or the levels of its components." [] xref: UMLS:C4022423 is_a: HP:0012337 ! Abnormal homeostasis created_by: HPO:skoehler [Term] id: HP:0040128 name: Abnormal sweat electrolytes xref: UMLS:C4022422 is_a: HP:0040127 ! Abnormal sweat homeostasis created_by: HPO:skoehler [Term] id: HP:0040129 name: Abnormal nerve conduction velocity synonym: "Abnormal nerve conduction" EXACT [] synonym: "Abnormal nerve conduction velocities" EXACT [] synonym: "Nerve conduction abnormalities" EXACT [] xref: UMLS:C1866772 is_a: HP:0003134 ! Abnormality of peripheral nerve conduction created_by: HPO:skoehler [Term] id: HP:0040130 name: Abnormal serum iron concentration xref: UMLS:C0235760 is_a: HP:0011031 ! Abnormality of iron homeostasis created_by: HPO:skoehler [Term] id: HP:0040131 name: Abnormal motor nerve conduction velocity xref: UMLS:C4021031 is_a: HP:0040129 ! Abnormal nerve conduction velocity created_by: HPO:skoehler [Term] id: HP:0040132 name: Abnormal sensory nerve conduction velocity xref: UMLS:C4022421 is_a: HP:0040129 ! Abnormal nerve conduction velocity created_by: HPO:skoehler [Term] id: HP:0040133 name: Abnormal serum ferritin def: "A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma." [HPO:probinson, PMID:29723227] comment: Ferritin is an iron storage protein present in all cells of the organism. A small amount is found in plasma and serum, which is a reflection of iron stores in healthy individuals. A low serum ferritin concentration is usually regarded as an indicator of iron depletion, although the interpretation of normal or high serum ferritin values is challenging in the presence of acute or chronic inflammatory processes, as ferritin is increased in iron overload states and inflammation. synonym: "Abnormal plasma ferritin" EXACT [] synonym: "Abnormal serum ferritin" EXACT layperson [] xref: UMLS:C0853228 is_a: HP:0010876 ! Abnormal circulating protein level created_by: HPO:skoehler [Term] id: HP:0040134 name: Abnormal hepatic iron concentration synonym: "Abnormal liver iron concentration" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormal liver iron level" EXACT [HPO:skoehler] xref: UMLS:C4022420 is_a: HP:0032243 ! Abnormal tissue metabolite concentration is_a: HP:0410042 ! Abnormal liver morphology created_by: HPO:skoehler [Term] id: HP:0040135 name: Abnormal transferrin saturation def: "Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity." [PMID:15083853] xref: UMLS:C4022419 is_a: HP:0011031 ! Abnormality of iron homeostasis created_by: HPO:skoehler [Term] id: HP:0040137 name: Comedonal acne def: "A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules." [PMID:18177407] synonym: "Comedogenic acne" RELATED [] xref: UMLS:C4022418 is_a: HP:0001061 ! Acne created_by: HPO:skoehler [Term] id: HP:0040138 name: Mucinous histiocytosis def: "Multiple subcutaneous non-fragile and skin-coloured papules characterized by interstitial infiltrate of spindle and epithelioid histiocytes, and mucin. There are well circumscribed aggregates of epithelioid histiocytes and mucin in the upper and middle dermis,with the histiocytes arranged between collagen bundles and separated from the epidermis by a Grenz zone." [PMID:10606860] synonym: "Histiocytosis, mucinous" EXACT [] xref: SNOMEDCT_US:87412005 xref: UMLS:C0334126 is_a: HP:0100727 ! Histiocytosis created_by: HPO:skoehler [Term] id: HP:0040139 name: Lipogranulomatosis def: "Yellow nodules of lipoid material are deposited in the skin and mucosae. This gives rise to granulomatous reactions." [] comment: Usually caused by a faulty lipid metabolism xref: SNOMEDCT_US:189099001 xref: SNOMEDCT_US:36279001 xref: SNOMEDCT_US:416439000 xref: UMLS:C1704214 is_a: HP:0002955 ! Granulomatosis is_a: HP:0004356 ! Abnormality of lysosomal metabolism created_by: HPO:skoehler [Term] id: HP:0040140 name: Degeneration of the striatum xref: UMLS:C4022417 is_a: HP:0002180 ! Neurodegeneration is_a: HP:0010994 ! Abnormal corpus striatum morphology created_by: HPO:skoehler [Term] id: HP:0040141 name: Tardive dyskinesia comment: the involuntary movements are tardive, meaning they have a slow or belated onset xref: MSH:D000071057 xref: UMLS:C0686347 is_a: HP:0100660 ! Dyskinesia created_by: HPO:skoehler [Term] id: HP:0040142 name: Reduced 5-oxoprolinase activity def: "Decreased activity of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate." [PMID:6790862] synonym: "5-oxoprolinase deficiency" EXACT [] xref: MSH:C535322 xref: SNOMEDCT_US:26132002 xref: UMLS:C0268525 is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity created_by: HPO:skoehler [Term] id: HP:0040143 name: Dystopic os odontoideum def: "Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process. With orthotopic os odontoideum, the ossicle moves with the anterior arch of the atlas, while the dystopic type consists of an ossicle near the basion, or one that is fused with the clivus" [] xref: UMLS:C3552843 is_a: HP:0005667 ! Os odontoideum created_by: HPO:skoehler [Term] id: HP:0040144 name: L-2-hydroxyglutaric aciduria def: "An increase in the level of L-2-hydroxyglutaric acid in the urine." [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:237961001 xref: UMLS:C1855995 is_a: HP:0032278 ! 2-hydroxyglutarate aciduria created_by: HPO:skoehler [Term] id: HP:0040145 name: Dicarboxylic acidemia xref: UMLS:C4022416 is_a: HP:0010995 ! Abnormal circulating dicarboxylic acid concentration is_a: HP:0032368 ! Acidemia created_by: HPO:skoehler [Term] id: HP:0040146 name: D-2-hydroxyglutaric acidemia xref: UMLS:C4022415 is_a: HP:0040145 ! Dicarboxylic acidemia created_by: HPO:skoehler [Term] id: HP:0040147 name: L-2-hydroxyglutaric acidemia xref: UMLS:C3888081 is_a: HP:0040145 ! Dicarboxylic acidemia created_by: HPO:skoehler [Term] id: HP:0040148 name: Cortical myoclonus xref: SNOMEDCT_US:698835006 xref: UMLS:C3698239 is_a: HP:0001336 ! Myoclonus created_by: HPO:skoehler [Term] id: HP:0040149 name: Woolly scalp hair synonym: "Afro-textured scalp hair" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Kinky scalp hair texture" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Nappy scalp hair texture" BROAD layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4015203 xref: UMLS:C4280291 xref: UMLS:C4280292 xref: UMLS:C4280293 is_a: HP:0002224 ! Woolly hair created_by: HPO:skoehler [Term] id: HP:0040150 name: Epiblepharon of upper lid xref: MSH:C565051 xref: UMLS:C1851582 is_a: HP:0011225 ! Epiblepharon created_by: HPO:skoehler [Term] id: HP:0040151 name: Epiblepharon of lower lid xref: MSH:C565051 xref: UMLS:C1851583 is_a: HP:0011225 ! Epiblepharon created_by: HPO:skoehler [Term] id: HP:0040154 name: Acne inversa def: "A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses." [https://www.news-medical.net/health/What-is-Hidradenitis-suppurativa-(acne-inversa).aspx] synonym: "Hidradenitis suppurativa" EXACT [ORCID:0000-0001-5208-3432] synonym: "Pyoderma fistulans significa" EXACT [PMID:23439959] synonym: "Smoker's boils" EXACT [PMID:23439959] synonym: "Verneuil's disease" EXACT [PMID:23439959] xref: MSH:D017497 xref: SNOMEDCT_US:59393003 xref: UMLS:C0162836 is_a: HP:0001061 ! Acne created_by: HPO:skoehler [Term] id: HP:0040155 name: Elevated urinary 3-hydroxybutyric acid def: "An increased amount of 3-hydroxybutyric acid in the urine." [] xref: UMLS:C4022414 is_a: HP:0040156 ! Elevated urinary carboxylic acid created_by: HPO:skoehler [Term] id: HP:0040156 name: Elevated urinary carboxylic acid def: "An increased amount of carboxylic acid in the urine." [] xref: UMLS:C4022413 is_a: HP:0001992 ! Organic aciduria is_a: HP:0031980 ! Abnormal urine carboxylic acid level created_by: HPO:skoehler [Term] id: HP:0040157 name: Abnormal intermamillary distance xref: UMLS:C4022412 is_a: HP:0004404 ! Abnormal nipple morphology created_by: HPO:skoehler [Term] id: HP:0040158 name: Short intermamillary distance xref: UMLS:C4022411 is_a: HP:0040157 ! Abnormal intermamillary distance created_by: HPO:skoehler [Term] id: HP:0040159 name: Abnormal spaced incisors synonym: "Abnormal spaced incisors" EXACT layperson [] synonym: "Abnormality of spacing of front teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of spacing of incisors" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4022410 is_a: HP:0011062 ! Misalignment of incisors created_by: HPO:skoehler [Term] id: HP:0040160 name: Generalized osteoporosis alt_id: HP:0005744 synonym: "Generalized osteoporosis with pathologic fractures" RELATED [] xref: MSH:D010024 xref: SNOMEDCT_US:64859006 xref: UMLS:C0029456 xref: UMLS:C3805887 is_a: HP:0000939 ! Osteoporosis [Term] id: HP:0040161 name: Localized osteoporosis xref: UMLS:C1398367 is_a: HP:0000939 ! Osteoporosis [Term] id: HP:0040162 name: Orthokeratosis def: "Formation of an anuclear keratin layer" [] xref: SNOMEDCT_US:708474007 xref: UMLS:C1843359 is_a: HP:0011368 ! Epidermal thickening [Term] id: HP:0040163 name: Abnormal pelvis bone morphology synonym: "Abnormal shape of pelvis bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4073132 is_a: HP:0002644 ! Abnormality of pelvic girdle bone morphology [Term] id: HP:0040164 name: Lipomas of eyelids def: "Fatty tumors on the eyelids." [ORCID:0000-0003-0986-4123] comment: Eyelid lipomas synonym: "Fatty tumors on the eyelids." EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4073133 is_a: HP:0000492 ! Abnormal eyelid morphology is_a: HP:0012032 ! Lipoma [Term] id: HP:0040165 name: Periostitis def: "Inflammation of the periosteum" [] synonym: "Periostalgia" EXACT [] xref: MSH:D010522 xref: SNOMEDCT_US:41910004 xref: UMLS:C0031111 is_a: HP:0030313 ! Abnormal periosteum morphology [Term] id: HP:0040166 name: Abnormality of the periosteum xref: UMLS:C4073134 is_a: HP:0000924 ! Abnormality of the skeletal system [Term] id: HP:0040167 name: Facial papilloma comment: A very specific feature of Costello Syndrome synonym: "Facial verruca" EXACT [ORCID:0000-0001-5889-4463] synonym: "Facial wart" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:240533004 xref: UMLS:C0343643 is_a: HP:0011799 ! Abnormality of facial soft tissue is_a: HP:0012740 ! Papilloma [Term] id: HP:0040168 name: Focal seizures, afebril synonym: "Seizures, partial, afebrile" EXACT [] xref: UMLS:C4049830 is_a: HP:0007359 ! Focal-onset seizure [Term] id: HP:0040169 name: Loose anagen hair xref: UMLS:C3554793 is_a: HP:0040170 ! Abnormality of hair growth [Term] id: HP:0040170 name: Abnormality of hair growth xref: UMLS:C4073136 is_a: HP:0001595 ! Abnormal hair morphology [Term] id: HP:0040171 name: Decreased serum testosterone level alt_id: HP:0008230 synonym: "Decreased serum testosterone level" EXACT layperson [] synonym: "Decreased serum testosterone levels" EXACT layperson [HPO:skoehler] synonym: "Decreased testosterone" BROAD layperson [HPO:skoehler] synonym: "Low serum testosterone level" EXACT layperson [HPO:skoehler] synonym: "Low serum testosterone levels" EXACT layperson [HPO:skoehler] xref: SNOMEDCT_US:131078003 xref: UMLS:C1295654 xref: UMLS:C4073137 is_a: HP:0030087 ! Abnormal serum testosterone level is_a: HP:0030349 ! Decreased circulating androgen level created_by: HPO:skoehler [Term] id: HP:0040172 name: Abnormality of occipitofrontalis muscle xref: UMLS:C4073138 is_a: HP:0003011 ! Abnormality of the musculature created_by: HPO:skoehler [Term] id: HP:0040173 name: Abnormality of the tongue muscle synonym: "Abnormality of lingual muscle" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the tongue muscle" EXACT layperson [] xref: UMLS:C4073139 is_a: HP:0003011 ! Abnormality of the musculature is_a: HP:0030809 ! Abnormal tongue morphology created_by: HPO:skoehler [Term] id: HP:0040174 name: Abnormality of extrinsic muscle of tongue synonym: "Abnormality of extrinsic lingual muscle" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4073140 is_a: HP:0040173 ! Abnormality of the tongue muscle created_by: HPO:skoehler [Term] id: HP:0040175 name: Platelet-activating factor acetylhydrolase deficiency xref: MSH:C566640 xref: UMLS:C3280315 is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity [Term] id: HP:0040176 name: Abnormal circulating phospholipid concentration def: "Any deviation from the normal concentration of a phospholipid in the blood circulation." [] synonym: "Abnormal level of phospholipids" EXACT [] xref: UMLS:C4073141 is_a: HP:0003119 ! Abnormal circulating lipid concentration created_by: HPO:skoehler [Term] id: HP:0040177 name: Abnormal level of platelet-activating factor synonym: "Abnormal level of PAF" EXACT [] xref: UMLS:C4073142 is_a: HP:0040176 ! Abnormal circulating phospholipid concentration created_by: HPO:skoehler [Term] id: HP:0040178 name: Increased level of platelet-activating factor synonym: "Increased level of PAF" EXACT [] xref: UMLS:C4073143 is_a: HP:0040177 ! Abnormal level of platelet-activating factor created_by: HPO:skoehler [Term] id: HP:0040179 name: Decreased level of platelet-activating factor synonym: "Decreased level of PAF" EXACT [] xref: UMLS:C4073144 is_a: HP:0040177 ! Abnormal level of platelet-activating factor created_by: HPO:skoehler [Term] id: HP:0040180 name: Hyperkeratosis pilaris xref: UMLS:C4073145 is_a: HP:0000962 ! Hyperkeratosis created_by: HPO:skoehler [Term] id: HP:0040181 name: Chapped lip def: "Cracking, fissuring, and peeling of the skin of the lips." [] synonym: "Chapped lip" EXACT layperson [] synonym: "Chapped lips" EXACT layperson [] synonym: "Cheilitis simplex" EXACT [ORCID:0000-0001-5889-4463] synonym: "Common cheilitis" EXACT [ORCID:0000-0001-5889-4463] synonym: "Dry lips" EXACT layperson [] synonym: "Perioral dermatitis" RELATED [ORCID:0000-0001-5889-4463] xref: MSH:D019557 xref: SNOMEDCT_US:16459000 xref: SNOMEDCT_US:238751002 xref: SNOMEDCT_US:248182008 xref: SNOMEDCT_US:402294001 xref: UMLS:C0263449 xref: UMLS:C0424489 is_a: HP:0000159 ! Abnormal lip morphology [Term] id: HP:0040182 name: Inappropriate sinus tachycardia def: "Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands." [HPO:probinson, pmid:15763524] xref: SNOMEDCT_US:425582007 xref: UMLS:C1881170 is_a: HP:0011703 ! Sinus tachycardia [Term] id: HP:0040183 name: Encopresis synonym: "Stool holding" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Stool soiling" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:302690004 xref: UMLS:C2945606 is_a: HP:0002607 ! Bowel incontinence [Term] id: HP:0040184 name: Oral bleeding synonym: "Oral bleeding" EXACT layperson [] synonym: "Oral hemorrhage" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:D006472 xref: SNOMEDCT_US:22490002 xref: UMLS:C0029163 is_a: HP:0031815 ! Abnormal oral physiology [Term] id: HP:0040185 name: Macrothrombocytopenia synonym: "Macrothrombozytopenia" EXACT [] xref: UMLS:C2751260 is_a: HP:0001873 ! Thrombocytopenia is_a: HP:0011877 ! Increased mean platelet volume [Term] id: HP:0040186 name: Maculopapular exanthema def: "A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear." [PMID:19398898] xref: SNOMEDCT_US:247471006 xref: SNOMEDCT_US:47725002 xref: UMLS:C0423791 is_a: HP:0000988 ! Skin rash created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0040187 name: Neonatal sepsis def: "Systemic inflammatory response to infection in newborn babies." [PMID:4067741] xref: MSH:D000071074 xref: SNOMEDCT_US:206376005 xref: UMLS:C0456103 is_a: HP:0100806 ! Sepsis [Term] id: HP:0040188 name: Osteochondrosis def: "Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification." [] xref: MSH:D055034 xref: SNOMEDCT_US:19579005 xref: UMLS:C0029429 is_a: HP:0001367 ! Abnormal joint morphology is_a: HP:0100323 ! Juvenile aseptic necrosis created_by: HPO:skoehler [Term] id: HP:0040189 name: Scaling skin def: "Refers to the loss of the outer layer of the epidermis in large, scale-like flakes." [] synonym: "Desquamation" EXACT [] synonym: "flaking skin" EXACT layperson [] synonym: "peeling skin" EXACT layperson [] synonym: "Scaling skin" EXACT layperson [] synonym: "scaly skin" EXACT layperson [] xref: SNOMEDCT_US:14411002 xref: SNOMEDCT_US:271767006 xref: UMLS:C0237849 is_a: HP:0011124 ! Abnormality of epidermal morphology [Term] id: HP:0040190 name: White scaling skin synonym: "White scaling skin" EXACT layperson [] synonym: "White scaly skin" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4073146 is_a: HP:0040189 ! Scaling skin [Term] id: HP:0040191 name: Rectus femoris muscle atrophy synonym: "Atrophy of the rectus femoris muscles" EXACT [] xref: UMLS:C2083352 is_a: HP:0009050 ! Quadriceps muscle atrophy created_by: HPO:skoehler [Term] id: HP:0040192 name: APUdoma def: "An endocrine tumor arising from an APUD cell." [] synonym: "amine precursor uptake and decarboxylation tumours" EXACT [] xref: MSH:D001079 xref: SNOMEDCT_US:253008000 xref: SNOMEDCT_US:74926005 xref: UMLS:C0003650 is_a: HP:0100568 ! Neoplasm of the endocrine system created_by: Courtney Hum [Term] id: HP:0040193 name: obsolete Pinealoblastoma is_obsolete: true replaced_by: HP:0030408 [Term] id: HP:0040194 name: Increased head circumference def: "An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart." [] synonym: "Increased head circumference" EXACT layperson [] xref: UMLS:C4083076 is_a: HP:0000240 ! Abnormality of skull size [Term] id: HP:0040195 name: Decreased head circumference def: "An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean." [PMID:26505062] comment: Although HC measures skull size, it typically also reflects overall brain volume and has been described as a widely used proxy of neural growth and brain size. Brain size outside of normal values is an important risk factor for cognitive and motor delay. Microcephaly at birth has been termed primary microcephaly and that acquired after birth is secondary microcephaly. synonym: "Decreased head circumference" EXACT layperson [] xref: SNOMEDCT_US:271611007 xref: UMLS:C0424688 is_a: HP:0000240 ! Abnormality of skull size [Term] id: HP:0040196 name: Mild microcephaly def: "Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD)." [] comment: See related discussion https://github.com/obophenotype/human-phenotype-ontology/issues/497 xref: UMLS:C1836806 is_a: HP:0040195 ! Decreased head circumference [Term] id: HP:0040197 name: Encephalomalacia def: "Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury." [PhenoTips:CHum] synonym: "Cerebral softening" EXACT [HPO:skoehler] xref: MSH:D004678 xref: SNOMEDCT_US:58762006 xref: UMLS:C0014068 is_a: HP:0002060 ! Abnormality of the cerebrum created_by: PhenoTips:CHum [Term] id: HP:0040198 name: Non-medullary thyroid carcinoma synonym: "Nonmedullary thyroid carcinoma" EXACT [] synonym: "Thyroid cancer, nonmedullary" EXACT [] xref: MSH:C536915 xref: UMLS:C3501843 is_a: HP:0002890 ! Thyroid carcinoma [Term] id: HP:0040199 name: obsolete Flat midface is_obsolete: true replaced_by: HP:0011800 [Term] id: HP:0040200 name: Motor impersistence def: "The inability to maintain postures or positions (such as keeping eyes closed, protruding the tongue, maintaining conjugate gaze steadily in a fixed direction, or making a prolonged 'ah' sound) without repeated prompts." [PhenoTips:CHum] comment: Damage to premotor and prefrontal regions results in motor-intentional disorders that disrupt initiation, maintenance, and termination of volitional movements. Motor impersistence (i.e., failure to maintain movement) more frequently develops following right than left hemisphere lesions. {xref="pmid:17353476", xref="HPO:pnrobinson"} synonym: "Negative chorea" EXACT [PhenoTips:CHum] xref: DOI:10.1007/978-0-387-79948-3_2046 xref: UMLS:C4073148 is_a: HP:0011443 ! Abnormality of coordination created_by: PhenoTips:CHum [Term] id: HP:0040201 name: Simultanapraxia def: "A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue." [PhenoTips:CHum] xref: DOI:10.1007/978-0-387-79948-3_2046 xref: UMLS:C4073149 is_a: HP:0040200 ! Motor impersistence created_by: PhenoTips:CHum [Term] id: HP:0040202 name: Abnormal consumption behavior xref: UMLS:C4073150 is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0040203 name: Abnormal CSF neopterin level def: "Abnormal concentration of neopterin in the cerebrospinal fluid (CSF)." [] xref: UMLS:C4073151 is_a: HP:0025454 ! Abnormal CSF metabolite level is_a: HP:0032207 ! Abnormal cerebrospinal fluid metabolite concentration created_by: PhenoTips:CHum [Term] id: HP:0040204 name: Elevated CSF neopterin level def: "Increased concentration of neopterin in the cerebrospinal fluid (CSF)." [] xref: UMLS:C4073152 is_a: HP:0040203 ! Abnormal CSF neopterin level created_by: PhenoTips:CHum [Term] id: HP:0040205 name: Decreased CSF neopterin level def: "Decreased concentration of neopterin in the cerebrospinal fluid (CSF)." [] xref: UMLS:C4073153 is_a: HP:0040203 ! Abnormal CSF neopterin level created_by: PhenoTips:CHum [Term] id: HP:0040206 name: Abnormal circulating neopterin concentration def: "Any deviation from the normal concentration of neopterin in the blood circulation." [] comment: Neopterin can be found to have abnormal level in blood, CSF, or urine. xref: UMLS:C4073154 is_a: HP:0004364 ! Abnormal circulating nitrogen compound concentration created_by: HPO:skoehler [Term] id: HP:0040207 name: Abnormal CSF biopterin level def: "Abnormal concentration of biopterin in the cerebrospinal fluid (CSF)." [] synonym: "Abnormal cerebrospinal fluid biopterin level" EXACT [] xref: UMLS:C4073155 is_a: HP:0025454 ! Abnormal CSF metabolite level is_a: HP:0032207 ! Abnormal cerebrospinal fluid metabolite concentration created_by: PhenoTips:CHum [Term] id: HP:0040208 name: Elevated CSF biopterin level def: "Increased concentration of biopterin in the cerebrospinal fluid (CSF)." [] xref: UMLS:C4073156 is_a: HP:0040207 ! Abnormal CSF biopterin level created_by: PhenoTips:CHum [Term] id: HP:0040209 name: Decreased CSF biopterin level def: "Decreased concentration of biopterin in the cerebrospinal fluid (CSF)." [] synonym: "Low CSF BH4 (tetrahydrobiopterin)" EXACT HP:0045077 [] xref: UMLS:C4073157 is_a: HP:0040207 ! Abnormal CSF biopterin level created_by: PhenoTips:CHum [Term] id: HP:0040210 name: Abnormal circulating biopterin concentration def: "A deviation from the normal concentration of biopterin in the blood circulation." [] xref: UMLS:C4073158 is_a: HP:0004364 ! Abnormal circulating nitrogen compound concentration created_by: HPO:skoehler [Term] id: HP:0040211 name: Abnormality of the skin of the palm def: "An abnormality of the skin of the palm, that is, the skin of the front of the hand." [] xref: UMLS:C4073159 is_a: HP:0011356 ! Regional abnormality of skin is_a: HP:0100871 ! Abnormality of the palm created_by: HPO:skoehler [Term] id: HP:0040212 name: Risus sardonicus def: "Fixed sarcastic grimace and anxious expression. Caused by spasms of the masseter and other facial muscles." [] comment: Accompanied by rigidity of neck and trunk muscles and arching of back. Often observed as a sign of tetanus. synonym: "Rictus grin" EXACT [] xref: SNOMEDCT_US:64314006 xref: UMLS:C0343494 is_a: HP:0005324 ! Disturbance of facial expression created_by: PhenoTips:CHum [Term] id: HP:0040213 name: Hypopnea def: "Hypopnea is referring to breathing that is abnormally shallower and/or slow." [] comment: Not to be confused with Hypoventilation. Hypopnea is distinct from apnea in which there is no breathing. xref: SNOMEDCT_US:386614005 xref: UMLS:C0235546 is_a: HP:0002793 ! Abnormal pattern of respiration [Term] id: HP:0040214 name: Abnormal insulin level def: "An abnormal concentration of insulin in the body." [] xref: UMLS:C4073160 is_a: HP:0003117 ! Abnormal circulating hormone level [Term] id: HP:0040215 name: Abnormal circulating insulin level def: "An abnormal concentration of insulin in the blood." [] xref: UMLS:C4073161 is_a: HP:0040214 ! Abnormal insulin level [Term] id: HP:0040216 name: Hypoinsulinemia def: "A decreased concentration of insulin in the blood." [] xref: UMLS:C2748055 is_a: HP:0040215 ! Abnormal circulating insulin level [Term] id: HP:0040217 name: Elevated hemoglobin A1c def: "An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements." [HPO:probinson, PMID:20042774] synonym: "Elevated glycated hemoglobin" EXACT [] synonym: "Elevated glycosylated hemoglobin" EXACT [] synonym: "Elevated HbA1c" EXACT HP:0045077 [] synonym: "Increased HbA1c levels" EXACT HP:0045077 [] xref: UMLS:C4073162 is_a: HP:0011902 ! Abnormal hemoglobin [Term] id: HP:0040218 name: Reduced natural killer cell count def: "Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor." [HPO:probinson, PMID:23993353] synonym: "Reduced natural killer cell number" EXACT [] synonym: "Reduced NK cell number" EXACT HP:0045077 [] xref: UMLS:C1855767 is_a: HP:0040089 ! Abnormal natural killer cell count [Term] id: HP:0040219 name: Absent natural killer cells def: "Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis." [HPO:probinson] synonym: "Absent NK cells" EXACT HP:0045077 [] xref: UMLS:C4073163 is_a: HP:0500033 ! Abnormal natural killer subset distribution [Term] id: HP:0040220 name: Abnormal size the dental root xref: UMLS:C4280723 is_a: HP:0006486 ! Abnormality of the dental root [Term] id: HP:0040221 name: Hypoplasia of the dental root xref: UMLS:C4280722 is_a: HP:0040220 ! Abnormal size the dental root [Term] id: HP:0040222 name: Maternal thrombophilia def: "An increased tendency towards thrombosis in the mother during a pregnancy." [HPO:probinson, PMID:25401392] comment: Maternal thrombophilia has been linked to an increased incidence of placental abruption, as well as other adverse pregnancy outcomes. It is believed that the increased obstetrical risk is mediated through placental vascular dysfunction. Placental thrombosis can then result in subsequent ischemic complications, such as fetal loss, preeclampsia, and fetal growth restriction. Placental abruption has been identified as being part of the spectrum of ischemic placental disease and is postulated to be a chronic disease process (PMID:25401392). xref: UMLS:C4280721 is_a: HP:0002686 ! Prenatal maternal abnormality [Term] id: HP:0040223 name: Pulmonary hemorrhage def: "A hemorrhage occurring within the lung." [] synonym: "Intrapulmonary hemorrhage" EXACT [] xref: UMLS:C4280720 is_a: HP:0002088 ! Abnormal lung morphology is_a: HP:0011029 ! Internal hemorrhage [Term] id: HP:0040224 name: Abnormality of fibrinolysis def: "Clincial phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis)" [] comment: requested and created by members of the BRIDGE consortium synonym: "Abnormality of the fibrinolytic system" EXACT [] xref: UMLS:C4280719 is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0040225 name: Decrease in high molecular weight von Willebrand factor Multimers def: "A decrease in high molecular weight von Willebrand factor multimers." [] comment: Requested and created by members of the BRIDGE consortium. synonym: "Decrease in HMW VWF multimers" EXACT [] xref: UMLS:C4280718 is_a: HP:0030131 ! Abnormal von Willebrand factor multimer distribution [Term] id: HP:0040226 name: Decreased level of heparin co-factor II def: "An abnormality of coagulation related to a decreased concentration of heparin co-factor II" [] comment: Requested and created by members of the BRIDGE consortium synonym: "Heparin co-factor II deficiency" EXACT [] xref: UMLS:C4280717 is_a: HP:0010990 ! Abnormality of the common coagulation pathway [Term] id: HP:0040227 name: Decreased level of histidine-rich glycoprotein def: "Decrease of these levels result in increased inhibition of fibrinolysis and reduced inhibition of coagulation" [] comment: Requested and created by members of the BRIDGE consortium xref: UMLS:C4280716 is_a: HP:0010990 ! Abnormality of the common coagulation pathway [Term] id: HP:0040228 name: Decreased level of plasminogen def: "A decreased level of Plasminogen" [] comment: Requested and created by members of the BRIDGE consortium synonym: "Hypoplasminogenemia" EXACT [] xref: UMLS:C4280715 is_a: HP:0010990 ! Abnormality of the common coagulation pathway is_a: HP:0032312 ! Decreased circulating globulin level [Term] id: HP:0040229 name: Decreased level of thrombomodulin def: "Thrombomodulin is a cofactor in the thrombin induced activation of Protein C. In the case of deficiency there will be less Protein C and tendency to clot" [] comment: Requested and created by members of the BRIDGE consortium synonym: "BDCA-3" RELATED [] xref: UMLS:C4255334 is_a: HP:0010990 ! Abnormality of the common coagulation pathway [Term] id: HP:0040230 name: Decreased level of tissue plasminogen activator def: "The tPA protein catalyzes the conversion of plasiminogen to plasmin, and thus break down of clots. When there is a deficiency there will be an increase of thrombosis" [] comment: Requested and created by members of the BRIDGE consortium synonym: "Decreased level of tPA" EXACT [] xref: UMLS:C4280714 is_a: HP:0010990 ! Abnormality of the common coagulation pathway [Term] id: HP:0040231 name: Abnormal onset of bleeding xref: UMLS:C4280713 is_a: HP:0001892 ! Abnormal bleeding [Term] id: HP:0040232 name: Delayed onset bleeding def: "Abnormal bleeding related to a procedure or trauma which does not start at the time of the initial insult, but after delay by at least 24 hours." [] xref: UMLS:C4280712 is_a: HP:0040231 ! Abnormal onset of bleeding [Term] id: HP:0040233 name: Factor XIII subunit A deficiency def: "Deficiency of factor XIII subunit A, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot." [] comment: Measurement of subunit A or B can be performed by Elisa kits. Adding the more granular term would facilitate mutation analysis as both subunits are encoded by different genes. This is not always performed in the diagnostic workup so 'Reduced factor XIII activity' would sufice. This term has been requested and created by members of the BRIDGE consortium synonym: "Reduced factor XIII, subunit A" EXACT [] xref: MSH:C567691 xref: UMLS:C2750514 is_a: HP:0008357 ! Reduced factor XIII activity [Term] id: HP:0040234 name: Factor XIII subunit B deficiency def: "Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot." [] comment: Measurement of subunit A or B can be performed by Elisa kits. Adding the more granular term would facilitate mutation analysis as both subunits are encoded by different genes. This is not always performed in the diagnostic workup so 'Reduced factor XIII activity' would sufice. This term has been requested and created by members of the BRIDGE consortium synonym: "Reduced factor XIII, subunit B" EXACT [] xref: MSH:C567688 xref: UMLS:C2750481 is_a: HP:0008357 ! Reduced factor XIII activity [Term] id: HP:0040235 name: Leukocyte inclusion bodies def: "The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes." [] comment: This term has been requested and created by members of the BRIDGE consortium synonym: "Dohle-like leukocyte inclusion bodies" EXACT [] synonym: "Inclusion bodies in leukocytes" EXACT [] xref: UMLS:C4280711 is_a: HP:0008264 ! Neutrophil inclusion bodies [Term] id: HP:0040236 name: Hyperfibrinolysis def: "Increased degradation of fibrin, associated with clot instability and bleeding" [] comment: This term has been requested and created by members of the BRIDGE consortium xref: UMLS:C3805089 is_a: HP:0040224 ! Abnormality of fibrinolysis [Term] id: HP:0040237 name: Impaired binding of factor VIII to VWF def: "Impaired binding of factor VIII to von Willebrand Factor. This is determined using a modified ELISA assay." [] comment: This term has been requested and created by members of the BRIDGE consortium synonym: "von Willebrand Disease Type II Normandy" EXACT [] xref: UMLS:C4280710 is_a: HP:0012146 ! Abnormality of von Willebrand factor [Term] id: HP:0040238 name: Impaired neutrophil chemotaxis def: "An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response" [] comment: This term has been requested and created by members of the BRIDGE consortium xref: UMLS:C4280709 is_a: HP:0005400 ! Reduction of neutrophil motility [Term] id: HP:0040239 name: Increased plasma vitamin K epoxide after vitamin K supplementation def: "Increased plasma vitamin K epoxide after vitamin K supplementation is present in VKCFD (vitamin K-dependent clotting factor deficiency) type 2, but not in VKCFD type 1." [] comment: This term has been requested and created by members of the BRIDGE consortium xref: UMLS:C4280708 is_a: HP:0010990 ! Abnormality of the common coagulation pathway [Term] id: HP:0040240 name: Increased ratio of VWF propeptide to VWF antigen def: "An increased VWF propeptide to VWF antigen indicates that deficiency of VWF is not due to impaired synthesis but due to rapid clearance. The VWF propeptide is measured by ELISA." [] comment: Some forms of von Willebrand Disease Type I (particularly those previously classified as type IC) and Acquired von Willebrand Disease. This term has been requested and created by members of the BRIDGE consortium xref: UMLS:C4280707 is_a: HP:0012146 ! Abnormality of von Willebrand factor [Term] id: HP:0040241 name: Increased RIPA def: "Increased platelet agglutination in response to low-dose ristocetin" [] comment: Characteristic of type 2B von Willebrand Disease or platelet-type (pseudo) VWD. (NB: this is not the same as enhanced ristocetin coafactor assay activity) This term has been requested and created by members of the BRIDGE consortium xref: UMLS:C4280706 is_a: HP:0030402 ! Abnormal platelet aggregation [Term] id: HP:0040242 name: Muscle haemorrhage def: "Haemorrhage occurring within a muscle" [] comment: This term has been requested and created by members of the BRIDGE consortium xref: SNOMEDCT_US:95422003 xref: UMLS:C0151702 is_a: HP:0011029 ! Internal hemorrhage is_a: HP:0011805 ! Abnormal muscle morphology [Term] id: HP:0040243 name: Prolonged euglobulin clot lysis time def: "Abnormally increased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored." [] comment: This term has been requested and created by members of the BRIDGE consortium xref: UMLS:C4280705 is_a: HP:0040224 ! Abnormality of fibrinolysis [Term] id: HP:0040244 name: Prolonged Russell's viper venom time def: "Increased time to coagulation in the Russell's viper venom assay" [] comment: This term has been requested and created by members of the BRIDGE consortium xref: UMLS:C4280704 is_a: HP:0010990 ! Abnormality of the common coagulation pathway [Term] id: HP:0040245 name: Reduced alpha-2-antiplasmin activity def: "Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis." [] comment: This term has been requested and created by members of the BRIDGE consortium xref: UMLS:C4280703 is_a: HP:0010990 ! Abnormality of the common coagulation pathway [Term] id: HP:0040246 name: Reduced antithrombin antigen def: "Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation." [] comment: This term has been requested and created by members of the BRIDGE consortium xref: UMLS:C4280702 is_a: HP:0010990 ! Abnormality of the common coagulation pathway [Term] id: HP:0040247 name: Reduced euglobulin clot lysis time def: "Abnormally decreased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored." [] comment: This term has been requested and created by members of the BRIDGE consortium xref: UMLS:C4280701 is_a: HP:0040224 ! Abnormality of fibrinolysis [Term] id: HP:0040248 name: Reduced plasminogen activator inhibitor 1 activity def: "Reduced activity of plasminogen activator inhibitor 1. This protein down-regulates fibrinolysis in the circulation by inhibiting the two major plasminogen activators: tissue-plasminogen activator and urokinase-plasminogen activator." [] comment: This term has been requested and created by members of the BRIDGE consortium xref: UMLS:C4280700 is_a: HP:0040224 ! Abnormality of fibrinolysis [Term] id: HP:0040249 name: Reduced plasminogen activator inhibitor 1 antigen def: "Reduced level of plasminogen activator inhibitor 1 antigen." [] comment: Added the antigen level as diagnosis with only activity levels is very difficult due to assay problems. Activity levels of control patients also include 0 within the normal limit. This term has been requested and created by members of the BRIDGE consortium xref: UMLS:C4280699 is_a: HP:0040224 ! Abnormality of fibrinolysis [Term] id: HP:0040250 name: Reduced prothrombin antigen def: "Reduced prothrombin antigen as measured by ELISA assay. Prothrombin is a vitamin K-dependent coagulation factor that is proteolytically cleaved to form thrombin." [] comment: This term has been requested and created by members of the BRIDGE consortium xref: UMLS:C4280698 is_a: HP:0012200 ! Abnormality of prothrombin [Term] id: HP:0040251 name: Hand dimple def: "A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the hand." [HPO:skoehler] comment: Use case: PMC4498842 synonym: "Hand dimples" EXACT HP:0045078 [] xref: UMLS:C4280697 is_a: HP:0010781 ! Skin dimple [Term] id: HP:0040252 name: Abnormal size of the clitoris xref: UMLS:C4280696 is_a: HP:0000056 ! Abnormality of the clitoris [Term] id: HP:0040253 name: Increased size of the clitoris xref: UMLS:C4280695 is_a: HP:0040252 ! Abnormal size of the clitoris [Term] id: HP:0040254 name: Decreased size of the clitoris xref: UMLS:C4280694 is_a: HP:0040252 ! Abnormal size of the clitoris [Term] id: HP:0040255 name: Aplasia/Hypoplasia of the clitoris xref: UMLS:C4280693 is_a: HP:0000056 ! Abnormality of the clitoris [Term] id: HP:0040256 name: Aplastic/Hypoplastic nasopharyngeal adenoids def: "Absence or underdevelopment of the nasopharyngeal adenoids." [] synonym: "Adenoids small or absent" RELATED [] xref: UMLS:C4280290 is_a: HP:3000033 ! Abnormality of nasopharyngeal adenoids [Term] id: HP:0040257 name: Abnormal size of nasopharyngeal adenoids def: "A deviation in the size of nasopharyngeal adenoids." [ORCID:0000-0001-7941-2961] xref: UMLS:C4280692 is_a: HP:3000033 ! Abnormality of nasopharyngeal adenoids [Term] id: HP:0040258 name: Hypoplastic nasopharyngeal adenoids def: "Underdevelopment of the nasopharyngeal adenoids." [] synonym: "Underdeveloped nasopharyngeal adenoids" EXACT [] xref: UMLS:C4280691 is_a: HP:0040256 ! Aplastic/Hypoplastic nasopharyngeal adenoids is_a: HP:0040260 ! Decreased size of nasopharyngeal adenoids [Term] id: HP:0040259 name: Aplastic nasopharyngeal adenoids def: "Absence of the nasopharyngeal adenoids as a developmental defect." [ORCID:0000-0001-5208-3432] xref: UMLS:C4280690 is_a: HP:0040256 ! Aplastic/Hypoplastic nasopharyngeal adenoids [Term] id: HP:0040260 name: Decreased size of nasopharyngeal adenoids def: "An abnormal decrease in the size of nasopharyngeal adenoids." [ORCID:0000-0001-7941-2961] xref: UMLS:C4280689 is_a: HP:0040257 ! Abnormal size of nasopharyngeal adenoids [Term] id: HP:0040261 name: Increased size of nasopharyngeal adenoids def: "An abnormal increase in the size of nasopharyngeal adenoids." [] synonym: "Adenoid hypertrophy" RELATED [] synonym: "Adenoids large" RELATED [] xref: SNOMEDCT_US:111591002 xref: SNOMEDCT_US:276442006 xref: UMLS:C0149825 xref: UMLS:C0455938 is_a: HP:0040257 ! Abnormal size of nasopharyngeal adenoids [Term] id: HP:0040262 name: Glue ear def: "Middle ear is filled with glue-like fluid instead of air." [] comment: http://patient.info/health/glue-ear-leaflet xref: MSH:D010034 xref: SNOMEDCT_US:78868004 xref: UMLS:C0029883 is_a: HP:0000370 ! Abnormality of the middle ear [Term] id: HP:0040263 name: Jaw ankylosis synonym: "Difficulty opening mouth" BROAD [] xref: SNOMEDCT_US:285466001 xref: UMLS:C0563350 xref: UMLS:C4280688 is_a: HP:0000277 ! Abnormality of the mandible [Term] id: HP:0040264 name: Jaw pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw." [HPO:probinson] synonym: "Jaw pain" EXACT layperson [] xref: SNOMEDCT_US:274667000 xref: UMLS:C0236000 is_a: HP:0012531 ! Pain [Term] id: HP:0040265 name: Upper limb muscle hypertrophy xref: UMLS:C4280687 is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs is_a: HP:0003712 ! Skeletal muscle hypertrophy [Term] id: HP:0040266 name: Proximal upper limb muscle hypertrophy xref: UMLS:C4280686 is_a: HP:0040265 ! Upper limb muscle hypertrophy [Term] id: HP:0040267 name: Distal upper limb muscle hypertrophy xref: UMLS:C4280685 is_a: HP:0040265 ! Upper limb muscle hypertrophy [Term] id: HP:0040268 name: Recurrent infections of the middle ear def: "Increased susceptibility to middle ear infections, as manifested by recurrent episodes of middle ear infections" [ORCID:0000-0001-7941-2961] xref: UMLS:C0747085 is_a: HP:0000370 ! Abnormality of the middle ear is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0040269 name: Blocked Eustachian tube synonym: "Obstruction of Eustachian tube" EXACT [] xref: SNOMEDCT_US:48145001 xref: UMLS:C0149508 is_a: HP:0040115 ! Abnormality of the Eustachian tube [Term] id: HP:0040270 name: Impaired glucose tolerance def: "An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose." [HPO:probinson] synonym: "Decreased glucose tolerance" EXACT [] synonym: "Glucose tolerance decreased" EXACT [] xref: MP:0005291 xref: UMLS:C0151671 is_a: HP:0001952 ! Glucose intolerance [Term] id: HP:0040272 name: Hyperintensity of MRI T2 signal of the spinal cord def: "A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord." [HPO:probinson] comment: Seen in a wide-ranging variety of spinal cord processes including; simple MR artefacts, congenital anomalies etc. Characterization of the abnormal areas of T2 signal as well as their appearance on other MR imaging sequences, when combined with clinical context and laboratory investigations, will often allow a unique diagnosis, or at least aid in narrowing the differential diagnosis. {xref="PMID:19527360"} xref: UMLS:C4280684 is_a: HP:0002143 ! Abnormality of the spinal cord [Term] id: HP:0040273 name: Adenocarcinoma of the intestines def: "A malignant epithelial tumor with a glandular organization that originates in the intestines." [] xref: NCIT:C2852 xref: UMLS:C4280683 is_a: HP:0002672 ! Gastrointestinal carcinoma [Term] id: HP:0040274 name: Adenocarcinoma of the small intestine def: "A malignant epithelial tumor with a glandular organization that originates in the small intestine." [] xref: NCIT:C2852 xref: SNOMEDCT_US:424440001 xref: UMLS:C0278803 is_a: HP:0040273 ! Adenocarcinoma of the intestines is_a: HP:0100833 ! Neoplasm of the small intestine [Term] id: HP:0040275 name: Adenocarcinoma of the large intestine def: "A malignant epithelial tumor with a glandular organization that originates in the large intestine." [] xref: NCIT:C2852 xref: SNOMEDCT_US:408645001 xref: UMLS:C1319315 is_a: HP:0040273 ! Adenocarcinoma of the intestines is_a: HP:0100834 ! Neoplasm of the large intestine created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0040276 name: Adenocarcinoma of the colon xref: NCIT:C2852 xref: UMLS:C0338106 is_a: HP:0040275 ! Adenocarcinoma of the large intestine is_a: HP:0100273 ! Neoplasm of the colon created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0040277 name: Neoplasm of the pituitary gland xref: NCIT:C3262 is_a: HP:0100568 ! Neoplasm of the endocrine system [Term] id: HP:0040278 name: Prolactinoma def: "A benign tumor (adenoma) of the pituitary gland" [] comment: Associated with increased prolactin in the blood (hyperprolactinemia) is_a: HP:0012503 ! Abnormality of the pituitary gland is_a: HP:0040277 ! Neoplasm of the pituitary gland [Term] id: HP:0040279 name: Frequency def: "Class to represent frequency of phenotypic abnormalities within a patient cohort." [] comment: Aligned with Orphanet is_a: HP:0000001 ! All created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0040280 name: Obligate def: "Always present, i.e. in 100% of the cases." [] synonym: "Obligate (100%)" EXACT [] xref: ORPHA:453310 is_a: HP:0040279 ! Frequency created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0040281 name: Very frequent def: "Present in 80% to 99% of the cases." [] synonym: "Very frequent (99-80%)" EXACT [] xref: ORPHA:453311 is_a: HP:0040279 ! Frequency created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0040282 name: Frequent def: "Present in 30% to 79% of the cases." [] synonym: "Frequent (79-30%)" EXACT [] xref: ORPHA:453312 is_a: HP:0040279 ! Frequency created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0040283 name: Occasional def: "Present in 5% to 29% of the cases." [] synonym: "Occasional (29-5%)" EXACT [] xref: ORPHA:453313 is_a: HP:0040279 ! Frequency created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0040284 name: Very rare def: "Present in 1% to 4% of the cases." [] synonym: "Very rare (<4-1%)" EXACT [] synonym: "Very rare (<4-1%)" EXACT [] xref: ORPHA:453314 is_a: HP:0040279 ! Frequency created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0040285 name: Excluded def: "Present in 0% of the cases." [] synonym: "Excluded (0%)" EXACT [] xref: ORPHA:453315 is_a: HP:0040279 ! Frequency created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0040286 name: Abnormality of axial muscles is_a: HP:0003011 ! Abnormality of the musculature created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0040287 name: Axial muscle atrophy is_a: HP:0040286 ! Abnormality of axial muscles created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0040288 name: Nasogastric tube feeding is_a: HP:0011968 ! Feeding difficulties [Term] id: HP:0040289 name: Cyclic neutropenia def: "Recurrent episodes of abnormally low levels of neutrophils in the body (neutropenia)." [https://rarediseases.info.nih.gov/diseases/6229/cyclic-neutropenia] synonym: "CyN" EXACT HP:0045077 [] is_a: HP:0001875 ! Neutropenia [Term] id: HP:0040290 name: Abnormality of skeletal muscles is_a: HP:0003011 ! Abnormality of the musculature [Term] id: HP:0040291 name: Skeletal muscle steatosis synonym: "Steatosis of skeletal muscle" EXACT [] synonym: "Steatosis of skeletal muscles" EXACT [] is_a: HP:0040290 ! Abnormality of skeletal muscles [Term] id: HP:0040292 name: Left hemiplegia synonym: "Hemiplegia (left)" EXACT [] is_a: HP:0002301 ! Hemiplegia [Term] id: HP:0040293 name: Right hemiplegia synonym: "Hemiplegia (right)" EXACT [] is_a: HP:0002301 ! Hemiplegia [Term] id: HP:0040294 name: Duplicated tongue synonym: "Duplication of tongue" EXACT [] synonym: "Tongue duplicated" EXACT [] synonym: "Tongue duplication" EXACT [] is_a: HP:0030809 ! Abnormal tongue morphology [Term] id: HP:0040295 name: Duplication of the upper lip synonym: "Double upper lip" EXACT [] is_a: HP:0000177 ! Abnormality of upper lip [Term] id: HP:0040296 name: Abnormal location of the eyebrow synonym: "Abnormal location of eyebrows" EXACT [] synonym: "Abnormally placed eyebrows" EXACT [] is_a: HP:0000534 ! Abnormal eyebrow morphology [Term] id: HP:0040297 name: Preauricular cyst is_a: HP:0000383 ! Abnormality of periauricular region [Term] id: HP:0040298 name: Hyperplasia of the endometrium synonym: "Hyperplastic endometrium" EXACT [] is_a: HP:0030126 ! Abnormality of the endometrium [Term] id: HP:0040299 name: Decreased circulating free fatty acid level synonym: "Low fatty acids level" EXACT [] is_a: HP:0040300 ! Abnormal circulating free fatty acid concentration created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0040300 name: Abnormal circulating free fatty acid concentration def: "Any deviation from the normal concentration of a free fatty acid in the blood circulation." [] synonym: "Abnormal circulating free fatty acid level" EXACT [] is_a: HP:0004359 ! Abnormal circulating fatty-acid concentration created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0040301 name: Increased urinary glycerol def: "An increased concentration of glycerol in the urine." [] is_a: HP:0031979 ! Abnormal urine carbohydrate level [Term] id: HP:0040302 name: Hyperglycerolemia def: "Increased concentration of glycerol in the blood." [PMID:23415440] comment: In glycerol kinase deficiency, the increased glycerol concentration has been noted to cause false-positive results of hypertriglyceridemia, a phenomenon called pseudohypertriglyceridemia. synonym: "Pseudohypertriglyceridemia" RELATED [] is_a: HP:0031795 ! Abnormal circulating glycerol level [Term] id: HP:0040303 name: Decreased serum iron synonym: "Low serum iron" EXACT [] is_a: HP:0040130 ! Abnormal serum iron concentration [Term] id: HP:0040304 name: Duplication of the sella turcica synonym: "Duplicate sella turcica" EXACT [] synonym: "Duplicated sella turcica" EXACT [] is_a: HP:0002679 ! Abnormality of the sella turcica [Term] id: HP:0040305 name: Increased male libido def: "Increased desire for sexual activity on the part of a male." [] is_a: HP:0031845 ! Abnormal libido is_a: HP:0040307 ! Male sexual dysfunction [Term] id: HP:0040306 name: Decreased male libido def: "Reduced desire for sexual activity on the part of a male." [] is_a: HP:0031845 ! Abnormal libido is_a: HP:0040307 ! Male sexual dysfunction [Term] id: HP:0040307 name: Male sexual dysfunction is_a: HP:0012874 ! Abnormal male reproductive system physiology [Term] id: HP:0040308 name: Male anorgasmia def: "Inability of a male to reach orgasm." [] is_a: HP:0040307 ! Male sexual dysfunction [Term] id: HP:0040309 name: Increased size of the mandible synonym: "Large jaw" EXACT [] is_a: HP:0000277 ! Abnormality of the mandible [Term] id: HP:0040310 name: Sterile arthritis def: "An inflammatory arthritis characterized by purulent synovial fluid with neutrophil accumulation, but with negative cultures." [] comment: This form of arthritis is termed 'sterile' because bacetriology returns negative results even though the clinical presentation resembles that of infectious arthritis. is_a: HP:0001369 ! Arthritis created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0040311 name: Symetrical distal arthritis is_a: HP:0001369 ! Arthritis created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0040312 name: Temporomandibular arthritis synonym: "Arthritis of temporomandibular joint" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] is_a: HP:0001369 ! Arthritis [Term] id: HP:0040313 name: Oligoarthritis is_a: HP:0001369 ! Arthritis [Term] id: HP:0040314 name: Blind vagina def: "Normally, the female reproductive canal is connected to the internal genitalia. \"Blind vagina\" denotes cases, where this canal ends in a sac." [HPO:skoehler, MGI] is_a: HP:0000142 ! Abnormal vagina morphology [Term] id: HP:0040315 name: Tongue edema is_a: HP:0000157 ! Abnormality of the tongue is_a: HP:0000969 ! Edema [Term] id: HP:0040316 name: obsolete Aplasia of the penis is_obsolete: true replaced_by: HP:0030261 [Term] id: HP:0040317 name: Blue urine def: "An abnormal blue color of the urine." [] comment: Blue or green urine coloration may be observed due to certain dyes used for tests of kidney and bladder function, some medications, and disorders including familial benign hypercalcemia and urinary tract infections caused by pseudomonas bacteria. is_a: HP:0012086 ! Abnormal urinary color created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0040318 name: Red urine def: "An abnormal red color of the urine." [] comment: http://www.health.harvard.edu/newsletter_article/red-brown-green-urine-colors-and-what-they-might-mean is_a: HP:0012086 ! Abnormal urinary color created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0040319 name: Dark urine def: "An abnormal dark color of the urine." [] comment: http://www.health.harvard.edu/newsletter_article/red-brown-green-urine-colors-and-what-they-might-mean is_a: HP:0012086 ! Abnormal urinary color created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0040320 name: Red-brown urine def: "An abnormal red-brown color of the urine." [] comment: http://www.health.harvard.edu/newsletter_article/red-brown-green-urine-colors-and-what-they-might-mean synonym: "red brown urine" EXACT [] is_a: HP:0012086 ! Abnormal urinary color created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0040321 name: Dark yellow urine def: "An abnormal dark-yellow color of the urine." [] comment: http://www.health.harvard.edu/newsletter_article/red-brown-green-urine-colors-and-what-they-might-mean is_a: HP:0012086 ! Abnormal urinary color created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0040322 name: Purple urine def: "An abnormal purple color of the urine." [] comment: http://www.health.harvard.edu/newsletter_article/red-brown-green-urine-colors-and-what-they-might-mean is_a: HP:0012086 ! Abnormal urinary color created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0040323 name: Erythema of the eyelids def: "Redness of the skin of the eyelids, caused by hyperemia of the capillaries in the lower layers of the skin." [] synonym: "Erythema of eyelid" EXACT [] synonym: "Eyelid erythema" EXACT [] is_a: HP:0000492 ! Abnormal eyelid morphology is_a: HP:0010783 ! Erythema [Term] id: HP:0040324 name: Heliotrope rash def: "In a heliotrope rash, the color of the skin turns to violet, which is the color of the heliotrope flower." [] comment: Heliotrope rash occurs during the initial phase of the idiopathic inflammatory myositis (particularly dermatomyositis). Heliotrope rash is a characteristic symptom of Dermatomyositis. synonym: "Heliotrope erythema" EXACT [] is_a: HP:0000988 ! Skin rash created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0040325 name: Bull's eye rash def: "A cutaneous eruption that consists of multiple (at least two) concentric erythematous rings." [] is_a: HP:0000988 ! Skin rash created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0040326 name: Hypoplasia of the olfactory bulb def: "Underdevelopment of the olfactory bulb." [HPO:skoehler] synonym: "Hypoplasia of olfactory bulb" EXACT [] synonym: "Hypoplastic olfactory bulb" EXACT [] is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system is_a: HP:0040327 ! Abnormal morphology of the olfactory bulb [Term] id: HP:0040327 name: Abnormal morphology of the olfactory bulb def: "An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell." [HPO:skoehler] is_a: HP:0100547 ! Abnormality of forebrain morphology [Term] id: HP:0040328 name: Focal hyperintensity of cerebral white matter on MRI def: "An abnormal area of increased brightness (hyperintensity) that is limited to one particular area." [] is_a: HP:0007042 ! Focal white matter lesions is_a: HP:0030890 ! Hyperintensity of cerebral white matter on MRI created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0040329 name: Multifocal hyperintensity of cerebral white matter on MRI def: "An abnormal area of increased brightness (hyperintensity) that occurs in several distinct areas." [] is_a: HP:0007052 ! Multifocal cerebral white matter abnormalities is_a: HP:0030890 ! Hyperintensity of cerebral white matter on MRI created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0040330 name: Confluent hyperintensity of cerebral white matter on MRI def: "Areas of brighter than expected MRI signal in the white matter of the brain whereby individual patches run together." [PMID:25636970] is_a: HP:0007204 ! Diffuse white matter abnormalities is_a: HP:0030890 ! Hyperintensity of cerebral white matter on MRI created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0040331 name: Focal hypointensity of cerebral white matter on MRI is_a: HP:0007042 ! Focal white matter lesions is_a: HP:0007103 ! Hypointensity of cerebral white matter on MRI created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0040332 name: Multifocal hypointensity of cerebral white matter on MRI is_a: HP:0007052 ! Multifocal cerebral white matter abnormalities is_a: HP:0007103 ! Hypointensity of cerebral white matter on MRI created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0040333 name: Confluent hypointensity of cerebral white matter on MRI is_a: HP:0007103 ! Hypointensity of cerebral white matter on MRI is_a: HP:0007204 ! Diffuse white matter abnormalities created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0040334 name: Purulent rhinitis def: "Chronic rhinitis accompanied by pus formation." [] comment: An infection of the nasal mucosa associated with pus formation. (Often secondary to a systemic infection, such as measles) is_a: HP:0002257 ! Chronic rhinitis created_by: ORCID:0000-0002-5316-1399 [Term] id: HP:0045001 name: Abnormal ossification of the trapezium xref: UMLS:C4022409 is_a: HP:0004252 ! Abnormality of the trapezium is_a: HP:0006257 ! Abnormality of carpal bone ossification created_by: HPO:skoehler [Term] id: HP:0045002 name: Absent ossification of the trapezium xref: UMLS:C4022408 is_a: HP:0045001 ! Abnormal ossification of the trapezium created_by: HPO:skoehler [Term] id: HP:0045003 name: Abnormal ossification of the scaphoid xref: UMLS:C4022407 is_a: HP:0004243 ! Abnormality of the scaphoid created_by: HPO:skoehler [Term] id: HP:0045004 name: Abnormal ossification of the trapezoid bone xref: UMLS:C4022406 is_a: HP:0004256 ! Abnormality of the trapezoid bone is_a: HP:0006257 ! Abnormality of carpal bone ossification created_by: HPO:skoehler [Term] id: HP:0045005 name: Neural tube defect def: "A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine." [HPO:probinson, PMID:19808787] synonym: "Abnormality of neural tube closure" EXACT [] xref: MSH:D009436 xref: SNOMEDCT_US:253098009 xref: UMLS:C0027794 is_a: HP:0410043 ! Abnormal neural tube morphology created_by: HPO:skoehler [Term] id: HP:0045006 name: Aplasia of lymphatic vessels def: "Aplasia (absence) of the lymphatic vessels." [ORCID:0000-0001-5208-3432] synonym: "Absent lymphatic vessels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022404 is_a: HP:0100766 ! Abnormal lymphatic vessel morphology created_by: HPO:skoehler [Term] id: HP:0045007 name: Abnormality of the substantia nigra xref: UMLS:C4022403 is_a: HP:0002134 ! Abnormality of the basal ganglia is_a: HP:0002418 ! Abnormality of midbrain morphology created_by: HPO:skoehler [Term] id: HP:0045008 name: Abnormal shape of the radius xref: UMLS:C4022402 is_a: HP:0045009 ! Abnormal morphology of the radius created_by: HPO:skoehler [Term] id: HP:0045009 name: Abnormal morphology of the radius xref: UMLS:C4022401 is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0011314 ! Abnormality of long bone morphology is_a: HP:0040073 ! Abnormal forearm bone morphology created_by: HPO:skoehler [Term] id: HP:0045010 name: Abnormality of peripheral nerves xref: UMLS:C4022400 is_a: HP:0000759 ! Abnormal peripheral nervous system morphology created_by: HPO:skoehler [Term] id: HP:0045011 name: Decreased urine bicarbonate concentration def: "Abnormally decreased concentration of hydrogencarbonate in the urine." [] synonym: "Decreased urine HCO3 concentration" EXACT HP:0045077 [] xref: UMLS:C4022399 is_a: HP:0011279 ! Abnormality of urine bicarbonate concentration created_by: HPO:skoehler [Term] id: HP:0045012 name: Decreased urinary catecholamine concentration xref: UMLS:C4022398 is_a: HP:0011281 ! Abnormality of urine catecholamine concentration created_by: HPO:skoehler [Term] id: HP:0045013 name: obsolete Decreased urinary glucose concentration is_obsolete: true consider: HP:0011016 [Term] id: HP:0045014 name: Hypolipidemia xref: SNOMEDCT_US:238090007 xref: UMLS:C0342892 is_a: HP:0003119 ! Abnormal circulating lipid concentration created_by: HPO:skoehler [Term] id: HP:0045016 name: obsolete Elevated serum long-chain fatty acids synonym: "Increased serum long-chain fatty acids" EXACT [] is_obsolete: true replaced_by: HP:0003455 [Term] id: HP:0045017 name: Congenital malformation of the left heart def: "Defect or defects of the morphogenesis of the left heart identifiable at birth." [] xref: UMLS:C4022397 is_a: HP:0001627 ! Abnormal heart morphology created_by: HPO:skoehler [Term] id: HP:0045018 name: Partial duplication of eyebrows synonym: "Partial double eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Partial duplication of eyebrows" EXACT layperson [] xref: UMLS:C4022396 is_a: HP:0010730 ! Double eyebrow created_by: HPO:skoehler [Term] id: HP:0045025 name: Narrow palpebral fissure def: "Reduction in the vertical distance between the upper and lower eyelids." [HPO:probinson] synonym: "Decreased size of palpebral fissure" NARROW [ORCID:0000-0001-5889-4463] synonym: "Narrow eyelid opening" RELATED layperson [] synonym: "Narrow palpebral fissures" EXACT [] synonym: "Small opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Small palpebral fissures" EXACT [HPO:skoehler] xref: UMLS:C1837464 xref: UMLS:C2675021 is_a: HP:0200007 ! Abnormal size of the palpebral fissures created_by: HPO:skoehler [Term] id: HP:0045026 name: Abnormality of the mediastinum alt_id: HP:0100722 xref: UMLS:C4022395 is_a: HP:0045027 ! Abnormality of the thoracic cavity created_by: HPO:skoehler [Term] id: HP:0045027 name: Abnormality of the thoracic cavity xref: UMLS:C4022394 is_a: HP:0000118 ! Phenotypic abnormality created_by: HPO:skoehler [Term] id: HP:0045028 name: Microlissencephaly def: "Severe microcephaly and lissencephaly with granular surfaces with immature cortical plate, reduced in thickness, with focal polymicrogyria and immature small neurons with rare processes, intermingled with a considerable number of glial elements." [PMID:8779318] comment: This is a severe phenotype that can be diagnosed at the fetopathological level, by which a diagnosis of lissencephaly can be made by the examination of the 6 layers of the cortex. Examination may show 3 layers or an extremely thin cortical plate consistent with the diagnosis of lissencephaly. synonym: "Lissencephaly type III" EXACT [] synonym: "Type 3 lissencephaly" EXACT [] synonym: "Type III lissencephaly" EXACT [] xref: UMLS:C4021030 is_a: HP:0001339 ! Lissencephaly created_by: HPO:skoehler [Term] id: HP:0045029 name: Eosinophilic fasciitis def: "Inflammation and thickening (localized fibrosis) of the fascia, the tissue under the skin and over the muscle, typically associated with a build up of eosinophils in the muscles and tissues." [https://medlineplus.gov/ency/article/000447.htm] xref: MSH:C562487 xref: SNOMEDCT_US:24129002 xref: UMLS:C0264005 is_a: HP:0100537 ! Fasciitis created_by: HPO:skoehler [Term] id: HP:0045034 name: Elevated urinary aminoisobutyric acid def: "An increased amount of 3-aminoisobutyric acid in the urine." [] xref: UMLS:C4022393 is_a: HP:0003355 ! Aminoaciduria created_by: HPO:skoehler [Term] id: HP:0045035 name: Decreased urinary copper concentration synonym: "Decreased urinary copper concentration" EXACT layperson [] xref: UMLS:C4073164 is_a: HP:0045036 ! Abnormal urinary copper concentration created_by: HPO:skoehler [Term] id: HP:0045036 name: Abnormal urinary copper concentration synonym: "Abnormal urinary copper concentration" EXACT layperson [] xref: UMLS:C4073165 is_a: HP:0025640 ! Abnormal urinary mineral level created_by: HPO:skoehler [Term] id: HP:0045037 name: Abnormality of jaw muscles synonym: "Abnormality of jaw muscles" EXACT layperson [] xref: UMLS:C4073166 is_a: HP:0000301 ! Abnormality of facial musculature created_by: HPO:skoehler [Term] id: HP:0045038 name: Gastric lymphoma def: "Lymphoma that originates in the stomach itself." [] comment: An uncommon condition, that accounts for less than 15% of gastric malignancies and about 2% of all lymphomas. synonym: "Primary gastric lymphoma" EXACT [] xref: MSH:C535648 xref: SNOMEDCT_US:276811008 xref: UMLS:C0349532 is_a: HP:0002665 ! Lymphoma is_a: HP:0006753 ! Neoplasm of the stomach created_by: HPO:skoehler [Term] id: HP:0045039 name: Osteolysis involving bones of the upper limbs xref: UMLS:C4073167 is_a: HP:0002797 ! Osteolysis is_a: HP:0040070 ! Abnormal upper limb bone morphology created_by: HPO:skoehler [Term] id: HP:0045040 name: Abnormal lactate dehydrogenase activity def: "A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate." [PMID:25984930] xref: UMLS:C4073168 is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity [Term] id: HP:0045041 name: Reduced lactate dehydrogenase B level comment: Lactate dehydrogenase catalyzes the interconversion of lactate and pyruvate. The B subunit of that enzyme is encoded by LDHB. xref: MSH:C563641 xref: UMLS:C3279904 is_a: HP:0045040 ! Abnormal lactate dehydrogenase activity [Term] id: HP:0045042 name: Decreased serum complement C4 def: "A reduced level of the complement component C4 in the circulation." [https://emedicine.medscape.com/article/135478-overview] synonym: "Decreased serum complement C4 level" EXACT [] xref: UMLS:C4073169 is_a: HP:0004431 ! Complement deficiency created_by: HPO:skoehler [Term] id: HP:0045043 name: Decreased serum complement C4a def: "A reduced level of the complement component C4a in circulation." [https://emedicine.medscape.com/article/135478-overview] xref: UMLS:C4073170 is_a: HP:0045042 ! Decreased serum complement C4 created_by: HPO:skoehler [Term] id: HP:0045044 name: Decreased serum complement C4b def: "A reduced level of the complement component C4b in circulation." [https://emedicine.medscape.com/article/135478-overview] synonym: "C4b deficiency" EXACT [] synonym: "Complement component 4B deficiency" EXACT [] xref: UMLS:C3280641 is_a: HP:0045042 ! Decreased serum complement C4 created_by: HPO:skoehler [Term] id: HP:0045045 name: Elevated plasma acylcarnitine levels xref: UMLS:C4073171 is_a: HP:0012071 ! Abnormal circulating acetylcarnitine concentration created_by: HPO:skoehler [Term] id: HP:0045046 name: Reduced insulin like growth factor binding protein acid labile subunit level def: "Blood concentration of insulin like growth factor binding protein acid labile subunit level below normal limits." [] comment: Insulin-like growth factor binding protein, acid labile subunit, also known as IGFALS, is a protein which in humans is encoded by the IGFALS gene. {xref="wikipedia"} synonym: "Acid-labile subunit deficiency" EXACT [] synonym: "Decreased levels of acid labile subunit" EXACT [] xref: UMLS:C3900122 is_a: HP:0031034 ! Abnormal insulin like growth factor binding protein acid labile subunit level [Term] id: HP:0045047 name: HbS hemoglobin def: "Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography." [HPO:probinson, PMID:3953566] xref: MSH:D006451 xref: SNOMEDCT_US:50095005 xref: UMLS:C0019043 is_a: HP:0011902 ! Abnormal hemoglobin [Term] id: HP:0045048 name: Increased HbA2 hemoglobin def: "An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia." [HPO:probinson, PMID:26372049] synonym: "Increased hemoglobin A2" EXACT [] xref: UMLS:C4073172 is_a: HP:0011902 ! Abnormal hemoglobin [Term] id: HP:0045049 name: Abnormal DLCO def: "An abnormal amount of oxygen passes into the blood from the lungs and/or an abnormal amount of carbon dioxide passes from the blood into the lungs." [] comment: A test of the diffusing capacity of the lungs for carbon monoxide (DLCO) is one of the most clinically valuable tests of lung function. synonym: "Abnormal diffusing capacity" EXACT [] synonym: "Abnormal TLCO" EXACT [] synonym: "Abnormal transfer factor of the lung for carbon monoxide" EXACT [] xref: UMLS:C4073173 is_a: HP:0030878 ! Abnormality on pulmonary function testing [Term] id: HP:0045050 name: Increased DLCO comment: Factors that can increase the DLCO include polycythaemia, asthma (can also have normal DLCO) and increased pulmonary blood volume as occurs in exercise. Other factors are left to right intracardiac shunting, and alveolar hemorrhage. synonym: "Increased diffusing capacity" EXACT [] xref: UMLS:C4073174 is_a: HP:0045049 ! Abnormal DLCO [Term] id: HP:0045051 name: Decreased DLCO comment: DLCO is decreased in any condition which affects the effective alveolar surface area synonym: "Decreased diffusing capacity" EXACT [] xref: UMLS:C4073175 is_a: HP:0045049 ! Abnormal DLCO [Term] id: HP:0045052 name: Abnormality of the brachial nerve plexus def: "Any abnormality of the brachial nerve plexus." [] xref: UMLS:C4073176 is_a: HP:0410010 ! Abnormality of somatic nerve plexus created_by: HPO:skoehler [Term] id: HP:0045053 name: Abnormality of the lumbosacral nerve plexus def: "Any abnormality of the lumbosacral nerve plexus." [] xref: UMLS:C4073177 is_a: HP:0410010 ! Abnormality of somatic nerve plexus created_by: HPO:skoehler [Term] id: HP:0045054 name: Brachial plexus neuropathy comment: Related to ticket: https://github.com/obophenotype/human-phenotype-ontology/issues/484 xref: MSH:D020516 xref: SNOMEDCT_US:3548001 xref: UMLS:C0700251 is_a: HP:0045052 ! Abnormality of the brachial nerve plexus created_by: HPO:skoehler [Term] id: HP:0045055 name: Tiger tail banding def: "A diagnostic alternating light and dark banding pattern under polarizing microscopy." [] synonym: "Tiger tail banding" EXACT layperson [] xref: UMLS:C4073178 is_a: HP:0003328 ! Abnormal hair laboratory examination created_by: HPO:skoehler [Term] id: HP:0045056 name: Abnormal levels of alpha-fetoprotein xref: UMLS:C4073179 is_a: HP:0010876 ! Abnormal circulating protein level [Term] id: HP:0045057 name: Decreased levels of alpha-fetoprotein xref: UMLS:C4073295 is_a: HP:0045056 ! Abnormal levels of alpha-fetoprotein [Term] id: HP:0045058 name: Abnormality of the testis size def: "An anomaly of the size of the testicle (the male gonad)." [] xref: UMLS:C4073180 is_a: HP:0000035 ! Abnormal testis morphology [Term] id: HP:0045059 name: Hyperkeratotic papule def: "A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically)." [] comment: Initially added for annotation of http://www.omim.org/clinicalSynopsis/615327 xref: PMID:3632007 xref: UMLS:C2047516 is_a: HP:0000962 ! Hyperkeratosis is_a: HP:0200034 ! Papule [Term] id: HP:0045060 name: Aplasia/hypoplasia involving bones of the extremities xref: UMLS:C4073181 is_a: HP:0002813 ! Abnormality of limb bone morphology is_a: HP:0009815 ! Aplasia/hypoplasia of the extremities [Term] id: HP:0045061 name: Decreased carnitine level in liver xref: UMLS:C4073182 is_a: HP:0032243 ! Abnormal tissue metabolite concentration is_a: HP:0410042 ! Abnormal liver morphology [Term] id: HP:0045063 name: Increased PIVKA-II def: "Des-gamma carboxyprothrombin (DCP) or pro-thrombin induced by vitamin K absence-II (PIVKA-II) is an abnormal prothrombin protein that is increased in the serum of patients with HCC. Generation of DCP is thought to be a result of an acquired defect in the post- translational carboxylation of the prothrombin precursor in malignant cells." [HPO:pnrobinson, PMID:12717392] comment: PIVKA-II can be measured by enzyme-linked immunosorbent assay (ELISA). synonym: "Increased prothrombin induced by vitamin K absence-II" EXACT [] xref: UMLS:C1112467 is_a: HP:0100831 ! Abnormality of vitamin K metabolism [Term] id: HP:0045073 name: Serositis def: "Inflammation in any serous cavity." [HPO:skoehler] is_a: HP:0012649 ! Increased inflammatory response [Term] id: HP:0045074 name: Thin eyebrow def: "Decreased diameter of eyebrow hairs." [] synonym: "Thin eyebrow" EXACT layperson [] synonym: "Thin eyebrows" EXACT layperson [] is_a: HP:0100840 ! Aplasia/Hypoplasia of the eyebrow created_by: HPO:skoehler [Term] id: HP:0045075 name: Sparse eyebrow def: "Decreased density/number of eyebrow hairs." [HPO:skoehler] synonym: "Hypotrichosis of eyebrow" EXACT [HPO:skoehler] synonym: "Sparse eyebrow" EXACT layperson [] synonym: "Sparse eyebrows" EXACT layperson [] is_a: HP:0100840 ! Aplasia/Hypoplasia of the eyebrow [Term] id: HP:0045079 name: Distal femoral metaphyseal irregularity def: "Irregularity of the normally smooth surface of the distal metaphysis of the femur." [] synonym: "Irregular distal femoral metaphyses" EXACT [] is_a: HP:0030291 ! Lower-limb metaphyseal irregularity created_by: HPO:skoehler [Term] id: HP:0045080 name: Decreased proportion of CD3-positive T cells alt_id: HP:0045072 def: "Any abnormality in the proportion of CD3-positive T cells relative to the total number of T cells." [] synonym: "Decreased proportion of CD3+ T cells" EXACT [] is_a: HP:0005403 ! Decrease in T cell count [Term] id: HP:0045081 name: Abnormality of body mass index def: "Anomaly in the weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of obesity and underweight compared to averages." [] synonym: "Abnormal BMI" EXACT HP:0045077 [] synonym: "Abnormal body mass index" EXACT [] is_a: HP:0004323 ! Abnormality of body weight [Term] id: HP:0045082 name: Decreased body mass index def: "Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages." [] synonym: "Decreased BMI" EXACT HP:0045077 [] is_a: HP:0004325 ! Decreased body weight is_a: HP:0045081 ! Abnormality of body mass index [Term] id: HP:0045083 name: obsolete Increased body mass index is_obsolete: true consider: HP:0004324 [Term] id: HP:0045084 name: Limb myoclonus comment: Limb myoclonus was noted in Early myoclonic encephalopathy. See PMID:27789573 synonym: "Myoclonus of limbs" EXACT [] is_a: HP:0001336 ! Myoclonus [Term] id: HP:0045085 name: Atrophy of masseter muscle synonym: "Atrophied masseter muscle" EXACT [] synonym: "Masseter muscle atrophy" EXACT [] is_a: HP:3000005 ! Abnormality of masseter muscle [Term] id: HP:0045086 name: Knee joint hypermobility def: "The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees)." [PMID:28599980, sanford:krageth] synonym: "Knee joint over-flexibility" EXACT layperson [] is_a: HP:0001382 ! Joint hypermobility is_a: HP:0010500 ! Hyperextensibility of the knee [Term] id: HP:0045087 name: Hip joint hypermobility is_a: HP:0001382 ! Joint hypermobility [Term] id: HP:0100000 name: Early onset of sexual maturation def: "An early onset of puberty, in this case early does not refer to precocious." [HPO:probinson] synonym: "Early onset of sexual maturation" EXACT layperson [] xref: UMLS:C4022392 is_a: HP:0008373 ! Puberty and gonadal disorders created_by: doelkens creation_date: 2010-05-04T10:35:02Z [Term] id: HP:0100001 name: Malignant mesothelioma def: "Malignant mesothelioma is a form of cancer that originates from the cells of the mesothelium, a thin tissue layer surrounding the body's internal organs. Malignant mesothelioma is almost exclusively caused by asbestos exposure, pleural mesothelioma beeing the most common form, affecting the lining of the lungs called the pleura. Other forms such as perioneal-, percardial- or testicular- mesothelioma are much rarer." [HPO:sdoelken] xref: HP:0100001 xref: MSH:C562839 xref: SNOMEDCT_US:62064005 xref: UMLS:C0345967 is_a: HP:0011793 ! Neoplasm by anatomical site created_by: doelkens creation_date: 2010-05-11T04:10:29Z [Term] id: HP:0100002 name: Pleural mesothelioma def: "A malignant mesothelioma originating from cells of the pleura (the thin layer of mesothelium lining the lungs). Pleural mesothelioma is the most common form of mesothelioma." [HPO:sdoelken] xref: NCIT:C3234 xref: SNOMEDCT_US:254645002 xref: UMLS:C0812413 is_a: HP:0100001 ! Malignant mesothelioma is_a: HP:0100527 ! Neoplasia of the pleura created_by: doelkens creation_date: 2010-05-11T04:16:23Z [Term] id: HP:0100003 name: Peritoneal mesothelioma def: "A Malignant mesothelioma originating from cells of the peritoneum (the thin layer of mesothelium lining the abdomen). Peritoneal mesothelioma is the second most common form of mesothelioma after pleural mesothelioma." [HPO:sdoelken] xref: NCIT:C3234 xref: SNOMEDCT_US:109853004 xref: UMLS:C0346109 is_a: HP:0002585 ! Abnormality of the peritoneum is_a: HP:0100001 ! Malignant mesothelioma is_a: HP:0100016 ! Abnormality of mesentery morphology created_by: doelkens creation_date: 2010-05-11T04:16:23Z [Term] id: HP:0100004 name: Pericardial mesothelioma def: "A Malignant mesothelioma originating from cells of the pericardium (the thin layer of mesothelium lining the heart)." [HPO:sdoelken] xref: NCIT:C3234 xref: UMLS:C1335381 is_a: HP:0001697 ! Abnormal pericardium morphology is_a: HP:0100001 ! Malignant mesothelioma created_by: doelkens creation_date: 2010-05-11T04:16:23Z [Term] id: HP:0100005 name: Testicular mesothelioma def: "A Malignant mesothelioma of the testis." [HPO:probinson] comment: Testicular mesothelioma originates from cells of the tunica vaginalis (the thin layer of mesothelium surrounding the testicles). Testicular mesothelioma is the rarest form of mesothelioma. xref: NCIT:C3234 xref: UMLS:C4022391 is_a: HP:0010788 ! Testicular neoplasm is_a: HP:0100001 ! Malignant mesothelioma created_by: doelkens creation_date: 2010-05-11T04:16:23Z [Term] id: HP:0100006 name: Neoplasm of the central nervous system def: "A neoplasm of the central nervous system." [HPO:probinson] synonym: "Neoplasia of the central nervous system" RELATED [] synonym: "Neoplasm of the CNS" EXACT HP:0045077 [] synonym: "Tumors of the central nervous system" EXACT layperson [HPO:sdoelken] xref: MSH:D016543 xref: NCIT:C3262 xref: SNOMEDCT_US:126951006 xref: UMLS:C0085136 is_a: HP:0002011 ! Morphological abnormality of the central nervous system is_a: HP:0004375 ! Neoplasm of the nervous system created_by: doelkens creation_date: 2010-05-14T09:11:53Z [Term] id: HP:0100007 name: Neoplasm of the peripheral nervous system def: "A benign or malignant neoplasm (tumour) of the peripheral nervous system." [HPO:probinson] synonym: "Tumor of the peripheral nervous system" EXACT layperson [HPO:sdoelken] xref: MSH:D010524 xref: NCIT:C3262 xref: SNOMEDCT_US:126980002 xref: UMLS:C0031118 is_a: HP:0000759 ! Abnormal peripheral nervous system morphology is_a: HP:0004375 ! Neoplasm of the nervous system created_by: doelkens creation_date: 2010-05-14T09:11:53Z [Term] id: HP:0100008 name: Schwannoma def: "A benign nerve sheath tumor composed of Schwann cells." [HPO:sdoelken] comment: Glial cells are cells that support nerve cells. Schwann cells wrap around the axon to form the myelin sheath. Schwann cells are involved in many important aspects of peripheral nerve biology; the conduction of nervous impulses along axons, nerve development and regeneration, trophic support for neurons, production of the nerve extracellular matrix and presentation of antigens to T-lymphocytes. Charcot-Marie-Tooth disease (CMT), Guillain-Barre syndrome (GBS), schwannomatosis and chronic inflammatory demyelinating polyneuropathy (CIDP) are all neuropathies involving Schwann cells. synonym: "Neurilemmoma" EXACT [] synonym: "Neurinoma" EXACT [] synonym: "Neurolemmoma" EXACT [] synonym: "Schwann cell tumor" EXACT [] synonym: "Schwann cell tumour" EXACT [] synonym: "Schwannomas" RELATED [HPO:skoehler] xref: MSH:D009442 xref: SNOMEDCT_US:404022001 xref: SNOMEDCT_US:985004 xref: UMLS:C0027809 is_a: HP:0100007 ! Neoplasm of the peripheral nervous system created_by: doelkens creation_date: 2010-05-14T09:13:07Z [Term] id: HP:0100009 name: Intracranial meningioma xref: MSH:D008579 xref: SNOMEDCT_US:302820008 xref: UMLS:C0349604 is_a: HP:0002858 ! Meningioma created_by: doelkens creation_date: 2010-05-14T09:29:27Z [Term] id: HP:0100010 name: Spinal meningioma xref: MSH:D008579 xref: NCIT:C3230 xref: SNOMEDCT_US:189167009 xref: UMLS:C0347515 is_a: HP:0002858 ! Meningioma created_by: doelkens creation_date: 2010-05-14T09:29:27Z [Term] id: HP:0100011 name: Scleral schwannoma xref: NCIT:C3269 xref: UMLS:C4022390 is_a: HP:0000591 ! Abnormal sclera morphology is_a: HP:0100008 ! Schwannoma is_a: HP:0100012 ! Neoplasm of the eye created_by: doelkens creation_date: 2010-05-14T09:41:55Z [Term] id: HP:0100012 name: Neoplasm of the eye def: "A tumor (abnormal growth of tissue) of the eye." [HPO:probinson] synonym: "Eye tumor" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Neoplasia of the eye" RELATED [] xref: MSH:D005134 xref: NCIT:C3262 xref: SNOMEDCT_US:371486001 xref: UMLS:C0015414 is_a: HP:0011793 ! Neoplasm by anatomical site is_a: HP:0012372 ! Abnormal eye morphology created_by: doelkens creation_date: 2010-05-14T09:43:34Z [Term] id: HP:0100013 name: Neoplasm of the breast alt_id: HP:0010623 def: "A tumor (abnormal growth of tissue) of the breast." [HPO:probinson] synonym: "Breast tumor" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Neoplasia of the breast" RELATED [] synonym: "Tumours of the breast" EXACT layperson [] xref: MSH:D001943 xref: NCIT:C3262 xref: SNOMEDCT_US:126926005 xref: UMLS:C1458155 is_a: HP:0011793 ! Neoplasm by anatomical site is_a: HP:0031093 ! Abnormal breast morphology created_by: doelkens creation_date: 2010-05-14T09:45:09Z [Term] id: HP:0100014 name: Epiretinal membrane def: "An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy." [HPO:sdoelken] synonym: "Epiretinal membranes" RELATED [HPO:skoehler] synonym: "Macular pucker" EXACT [] synonym: "Premacular fibrosis" EXACT [] xref: MSH:D019773 xref: SNOMEDCT_US:133853005 xref: SNOMEDCT_US:367649002 xref: UMLS:C0339543 is_a: HP:0030498 ! Macular thickening created_by: doelkens creation_date: 2010-05-14T09:53:27Z [Term] id: HP:0100015 name: Stahl ear def: "The presence of a supernumerary, i.e. third, crus of the helix in the helix, arising at or above the normal bifurcation of the antihelix." [HPO:sdoelken] comment: The helix is often poorly formed. Four types have been recognized in the surgical literature [Yamada and Fukuda, 1980]. synonym: "Additional crus" EXACT [] synonym: "Spock ear" EXACT layperson [] synonym: "Third crus" EXACT [] synonym: "Vulcan ear" EXACT layperson [] xref: SNOMEDCT_US:253252004 xref: UMLS:C1862689 is_a: HP:0011235 ! Additional crus of antihelix created_by: doelkens creation_date: 2010-05-25T10:30:14Z [Term] id: HP:0100016 name: Abnormality of mesentery morphology def: "Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium)." [HPO:sdoelken] synonym: "Abnormality of the mesentery" RELATED [] xref: UMLS:C4022389 is_a: HP:0002012 ! Abnormality of the abdominal organs created_by: doelkens creation_date: 2010-05-25T11:20:36Z [Term] id: HP:0100017 name: Capsular cataract def: "A cataract that affects the capsule of the lens." [HPO:probinson] xref: SNOMEDCT_US:204125003 xref: UMLS:C0339352 is_a: HP:0000518 ! Cataract created_by: doelkens creation_date: 2010-05-27T06:01:54Z [Term] id: HP:0100018 name: Nuclear cataract alt_id: HP:0007672 alt_id: HP:0007781 alt_id: HP:0008024 def: "A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown." [HPO:sdoelken] subset: hposlim_core synonym: "Yellowish cloudy center of lens" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:53889007 xref: UMLS:C0392557 is_a: HP:0010920 ! Zonular cataract created_by: doelkens creation_date: 2010-05-28T11:34:45Z [Term] id: HP:0100019 name: Cortical cataract alt_id: HP:0007876 def: "A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance." [HPO:sdoelken] subset: hposlim_core xref: SNOMEDCT_US:193576003 xref: UMLS:C0271160 is_a: HP:0010920 ! Zonular cataract created_by: doelkens creation_date: 2010-05-28T11:35:33Z [Term] id: HP:0100020 name: Posterior capsular cataract def: "A cataract which is found in the back outer layer of the lens. This type often develops more rapidly." [HPO:sdoelken] xref: UMLS:C4022388 is_a: HP:0100017 ! Capsular cataract created_by: doelkens creation_date: 2010-05-28T11:36:49Z [Term] id: HP:0100021 name: Cerebral palsy def: "Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems." [HPO:sdoelken] synonym: "Cerebral paralysis" EXACT [] synonym: "CP" EXACT HP:0045077 [] xref: MSH:D002547 xref: SNOMEDCT_US:128188000 xref: UMLS:C0007789 is_a: HP:0011442 ! Abnormality of central motor function is_a: HP:0100022 ! Abnormality of movement created_by: doelkens creation_date: 2010-05-28T11:46:16Z [Term] id: HP:0100022 name: Abnormality of movement alt_id: HP:0001294 def: "An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements." [HPO:probinson] comment: Movement disorders are characterized by the phenotypic abnormalities including abnormal involuntary movements, akathisia, akinesia, athetosis, ataxia, ballismus, bradykinesia, chorea, dyskinesia, dystonia, and myoclonus tics, tremor, spasms, and stereotypy. synonym: "Abnormality of movement" EXACT layperson [] synonym: "Movement disorder" EXACT layperson [] synonym: "Unusual movement" EXACT layperson [] xref: MSH:D009069 xref: SNOMEDCT_US:60342002 xref: UMLS:C0026650 is_a: HP:0012638 ! Abnormality of nervous system physiology created_by: doelkens creation_date: 2010-05-28T11:48:50Z [Term] id: HP:0100023 name: Recurrent hand flapping def: "A type of stereotypic behavior in which the affected individual repeatedly waves the hands up and down." [HPO:probinson] xref: UMLS:C4022387 is_a: HP:0000733 ! Stereotypy created_by: doelkens creation_date: 2010-05-28T12:10:09Z [Term] id: HP:0100024 name: Conspicuously happy disposition def: "An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger." [HPO:sdoelken] synonym: "Conspicious happy aspect" EXACT [] synonym: "Happy aspect" EXACT [] xref: UMLS:C4021029 is_a: HP:0100851 ! Abnormal emotion/affect behavior created_by: doelkens creation_date: 2010-05-28T05:32:35Z [Term] id: HP:0100025 name: Overfriendliness def: "A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction." [HPO:sdoelken] synonym: "Overfriendliness" EXACT layperson [] xref: UMLS:C4022386 is_a: HP:0012433 ! Abnormal social behavior created_by: doelkens creation_date: 2010-05-28T05:42:06Z [Term] id: HP:0100026 name: Arteriovenous malformation def: "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries." [HPO:probinson] xref: MSH:D001165 xref: SNOMEDCT_US:234141001 xref: SNOMEDCT_US:24551003 xref: UMLS:C0003857 is_a: HP:0025015 ! Abnormal vascular morphology created_by: doelkens creation_date: 2010-05-31T05:32:31Z [Term] id: HP:0100027 name: Recurrent pancreatitis def: "A recurrent form of pancreatitis." [HPO:probinson] synonym: "Recurring pancreas inflammation" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Recurring pancreatitis" EXACT [] xref: MSH:D050500 xref: SNOMEDCT_US:233870001 xref: SNOMEDCT_US:234689009 xref: SNOMEDCT_US:235494005 xref: UMLS:C0149521 is_a: HP:0001733 ! Pancreatitis created_by: doelkens creation_date: 2010-06-01T01:45:23Z [Term] id: HP:0100028 name: Ectopic thyroid def: "Mislocalised thyroid gland." [HPO:sdoelken] comment: An aberrant or ectopic thyroid gland may occur anywhere along the path of initial descent of the thyroid. A total failure to descend contrasts with the incomplete descent of the thyroid, in which case the resulting final resting point of the gland may be high in the neck or just below the hyoid bone. Appart from an abnormal descent, accessory thyroid tissue can also occur, arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract. synonym: "Aberrant thyroid" EXACT [HPO:sdoelken] synonym: "Aberrant thyroid gland" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Abnormal thryoid location" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Ectopic thyroid gland" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Heteropic thyroid gland" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] xref: MSH:D050033 xref: SNOMEDCT_US:214660000 xref: UMLS:C0266283 is_a: HP:0008188 ! Thyroid dysgenesis created_by: doelkens creation_date: 2010-06-10T10:16:37Z [Term] id: HP:0100029 name: Lingual thyroid def: "An aberrant thyroid gland or Ectopic thyroid located at the base of the tongue, just posterior to the foramen cecum as a result of a failure of the thyroid to descend." [HPO:sdoelken] comment: A lingual thyroid is the most common form of an aberrant thyroid gland. xref: MSH:D046151 xref: SNOMEDCT_US:129123002 xref: SNOMEDCT_US:21279007 xref: UMLS:C0266284 is_a: HP:0100028 ! Ectopic thyroid created_by: doelkens creation_date: 2010-06-10T10:20:31Z [Term] id: HP:0100030 name: Accessory ectopic thyroid tissue def: "Accessory ectopic thyroid tissue arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract." [HPO:sdoelken] comment: While the accessory thyroid tissue may be functional, it is generally insufficient for normal function if the main thyroid gland is entirely removed. xref: UMLS:C4022385 is_a: HP:0100028 ! Ectopic thyroid created_by: doelkens creation_date: 2010-06-10T10:25:46Z [Term] id: HP:0100031 name: Neoplasm of the thyroid gland def: "A tumor (abnormal growth of tissue) of the thyroid gland." [HPO:probinson] synonym: "Neoplasia of the thyroid gland" RELATED [] xref: MSH:D013964 xref: NCIT:C3262 xref: SNOMEDCT_US:127018007 xref: UMLS:C0040136 is_a: HP:0011772 ! Abnormality of thyroid morphology is_a: HP:0100568 ! Neoplasm of the endocrine system created_by: doelkens creation_date: 2010-06-10T10:30:24Z [Term] id: HP:0100033 name: Tics def: "Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement." [HPO:sdoelken, PMID:20589866] comment: Tics can be invisible to the observer, such as abdominal tensing or toe crunching. Common motor and phonic tics are, respectively, eye blinking and throat clearing. Movements of other movement disorders (for example, chorea, dystonia, myoclonus) must be distinguished from tics. Other conditions, such as autism and stereotypic movement disorder, also include movements which may be confused with tics. Tics must also be distinguished from the compulsions of OCD and from seizure activity. Tics may increase as a result of stress, fatigue, boredom, or high-energy emotions, which can include negative emotions, such as anxiety, but positive emotions as well, such as excitement or anticipation. Relaxation may result in a tic increase (for instance, watching television or using a computer), while concentration on an absorbing activity often leads to a decrease in tics. synonym: "Tic disorder" EXACT layperson [] synonym: "Tics" EXACT layperson [] xref: UMLS:C2169806 is_a: HP:0004305 ! Involuntary movements created_by: doelkens creation_date: 2010-06-10T12:10:29Z [Term] id: HP:0100034 name: Motor tics def: "Movement-based tics affecting discrete muscle groups." [HPO:sdoelken] xref: MSH:D020323 xref: UMLS:C0751900 is_a: HP:0100033 ! Tics created_by: doelkens creation_date: 2010-06-10T12:13:57Z [Term] id: HP:0100035 name: Phonic tics def: "Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound." [HPO:sdoelken] synonym: "Verbal tics" EXACT [] synonym: "Vocal tics" EXACT [] xref: MSH:D020323 xref: UMLS:C0751901 is_a: HP:0100033 ! Tics created_by: doelkens creation_date: 2010-06-10T12:13:57Z [Term] id: HP:0100036 name: Pseudo-fractures def: "A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. Callus formation in the affected area is common and gives the appearance of a false fracture." [HPO:sdoelken] comment: Typical sites of involvement are the axillary margins of the scapula, ribs, pubic rami, proximal ends of the femur and ulna. On x-rays pseudo-fractures appear as a lucent line about 1 -2 cm wide, vertical to the cortex and are pathognomonic of osteomalacia, seen on the concave side and are also seen in Paget disease on the convex side of the bone. synonym: "Looser zones" EXACT [] xref: UMLS:C4021028 is_a: HP:0003103 ! Abnormal cortical bone morphology created_by: doelkens creation_date: 2010-06-14T05:25:53Z [Term] id: HP:0100037 name: Abnormality of the scalp hair def: "An abnormality of the hair of head." [HPO:probinson] synonym: "Abnormality of the scalp hair" EXACT layperson [] xref: UMLS:C4022384 is_a: HP:0001595 ! Abnormal hair morphology is_a: HP:0001965 ! Abnormality of the scalp created_by: doelkens creation_date: 2010-06-22T05:29:31Z [Term] id: HP:0100038 name: Slow-growing scalp hair alt_id: HP:0004553 def: "Scalp hair whose growth is slower than normal." [DDD:cmoss] synonym: "Slow-growing scalp hair" EXACT layperson [] xref: UMLS:C4022383 is_a: HP:0002217 ! Slow-growing hair is_a: HP:0100037 ! Abnormality of the scalp hair created_by: doelkens creation_date: 2010-06-22T05:46:59Z [Term] id: HP:0100039 name: Thickened cortex of bones def: "An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones." [HPO:sdoelken] xref: UMLS:C4022382 is_a: HP:0003103 ! Abnormal cortical bone morphology created_by: doelkens creation_date: 2010-06-24T09:39:01Z [Term] id: HP:0100040 name: Broad 2nd toe def: "A broad appearance of the second toe." [HPO:sdoelken] comment: Note that an apparent broad appearance might be due to a hidden duplication. synonym: "Wide 2nd toe" EXACT layperson [] xref: UMLS:C4022381 is_a: HP:0001837 ! Broad toe is_a: HP:0010319 ! Abnormality of the 2nd toe created_by: doelkens creation_date: 2010-06-24T09:52:57Z [Term] id: HP:0100041 name: Broad 3rd toe def: "A broad appearance of the third toe." [HPO:sdoelken] synonym: "Broad 3rd toe" EXACT layperson [] synonym: "Wide 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022380 is_a: HP:0001837 ! Broad toe is_a: HP:0010320 ! Abnormality of the 3rd toe created_by: doelkens creation_date: 2010-06-24T09:54:55Z [Term] id: HP:0100042 name: Broad 4th toe def: "A broad appearance of the fourth toe." [HPO:sdoelken] synonym: "Broad 4th toe" EXACT layperson [] synonym: "Wide 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022379 is_a: HP:0001837 ! Broad toe is_a: HP:0010321 ! Abnormality of the 4th toe created_by: doelkens creation_date: 2010-06-24T09:55:43Z [Term] id: HP:0100043 name: Broad 5th toe def: "A broad appearance of the fifth toe." [HPO:sdoelken] synonym: "Broad 5th toe" EXACT layperson [] synonym: "Broad little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Broad pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Broad pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022378 is_a: HP:0001837 ! Broad toe is_a: HP:0010322 ! Abnormality of the 5th toe created_by: doelkens creation_date: 2010-06-24T09:56:25Z [Term] id: HP:0100044 name: Absent epiphyses of the 2nd toe synonym: "Absent end part of the 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022377 is_a: HP:0010162 ! Absent epiphyses of the toes is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe created_by: doelkens creation_date: 2010-06-24T09:58:18Z [Term] id: HP:0100045 name: Bracket epiphyses of the 2nd toe synonym: "Bracket shaped end part of 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022376 is_a: HP:0010163 ! Bracket epiphyses of the toes is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe created_by: doelkens creation_date: 2010-06-24T09:58:18Z [Term] id: HP:0100046 name: Cone-shaped epiphyses of the 2nd toe synonym: "Cone-shaped end part of the 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022375 is_a: HP:0010164 ! Cone-shaped epiphyses of the toes is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe created_by: doelkens creation_date: 2010-06-24T09:58:18Z [Term] id: HP:0100047 name: Enlarged epiphyses of the 2nd toe synonym: "Enlarged end part of the 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022374 is_a: HP:0010165 ! Enlarged epiphyses of the toes is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe created_by: doelkens creation_date: 2010-06-24T09:58:18Z [Term] id: HP:0100048 name: Fragmentation of the epiphyses of the 2nd toe synonym: "Fragmentation of the end part of the 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022373 is_a: HP:0010166 ! Fragmentation of the epiphyses of the toes is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe created_by: doelkens creation_date: 2010-06-24T09:58:18Z [Term] id: HP:0100049 name: Irregular epiphyses of the 2nd toe synonym: "Irregular end part of the 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022372 is_a: HP:0010167 ! Irregular epiphyses of the toes is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe created_by: doelkens creation_date: 2010-06-24T09:58:18Z [Term] id: HP:0100050 name: Ivory epiphyses of the 2nd toe def: "Epiphyses of the 2nd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson] synonym: "Increased bone density of end part of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022371 is_a: HP:0010168 ! Ivory epiphyses of the toes is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe created_by: doelkens creation_date: 2010-06-24T09:58:18Z [Term] id: HP:0100051 name: Pseudoepiphyses of the 2nd toe xref: UMLS:C4022370 is_a: HP:0010169 ! Pseudoepiphyses of the toes is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe created_by: doelkens creation_date: 2010-06-24T09:58:18Z [Term] id: HP:0100052 name: Small epiphyses of the 2nd toe synonym: "Small end part of the 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022369 is_a: HP:0010170 ! Small epiphyses of the toes is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe created_by: doelkens creation_date: 2010-06-24T09:58:18Z [Term] id: HP:0100053 name: Stippling of the epiphyses of the 2nd toe def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd toe." [HPO:curators] synonym: "Speckled calcifications in the end part of the 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022368 is_a: HP:0010171 ! Epiphyseal stippling of toe phalanges is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe created_by: doelkens creation_date: 2010-06-24T09:58:18Z [Term] id: HP:0100054 name: Triangular epiphyses of the 2nd toe synonym: "Triangular end part of the 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022367 is_a: HP:0010172 ! Triangular epiphyses of the toes is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe created_by: doelkens creation_date: 2010-06-24T09:58:18Z [Term] id: HP:0100055 name: Absent epiphyses of the 3rd toe synonym: "Absent end part of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022366 is_a: HP:0010162 ! Absent epiphyses of the toes is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe created_by: doelkens creation_date: 2010-06-24T09:58:55Z [Term] id: HP:0100056 name: Bracket epiphyses of the 3rd toe synonym: "Bracket shaped end part of 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022365 is_a: HP:0010163 ! Bracket epiphyses of the toes is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe created_by: doelkens creation_date: 2010-06-24T09:58:55Z [Term] id: HP:0100057 name: Cone-shaped epiphyses of the 3rd toe synonym: "Cone-shaped end part of the 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022364 is_a: HP:0010164 ! Cone-shaped epiphyses of the toes is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe created_by: doelkens creation_date: 2010-06-24T09:58:55Z [Term] id: HP:0100058 name: Enlarged epiphyses of the 3rd toe synonym: "Enlarged end part of the 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022363 is_a: HP:0010165 ! Enlarged epiphyses of the toes is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe created_by: doelkens creation_date: 2010-06-24T09:58:55Z [Term] id: HP:0100059 name: Fragmentation of the epiphyses of the 3rd toe synonym: "Fragmentation of the end part of the 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022362 is_a: HP:0010166 ! Fragmentation of the epiphyses of the toes is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe created_by: doelkens creation_date: 2010-06-24T09:58:55Z [Term] id: HP:0100060 name: Irregular epiphyses of the 3rd toe synonym: "Irregular end part of the 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022361 is_a: HP:0010167 ! Irregular epiphyses of the toes is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe created_by: doelkens creation_date: 2010-06-24T09:58:55Z [Term] id: HP:0100061 name: Ivory epiphyses of the 3rd toe def: "Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson] synonym: "Increased bone density of end part of the 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022360 is_a: HP:0010168 ! Ivory epiphyses of the toes is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe created_by: doelkens creation_date: 2010-06-24T09:58:55Z [Term] id: HP:0100062 name: Pseudoepiphyses of the 3rd toe xref: UMLS:C4022359 is_a: HP:0010169 ! Pseudoepiphyses of the toes is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe created_by: doelkens creation_date: 2010-06-24T09:58:55Z [Term] id: HP:0100063 name: Small epiphyses of the 3rd toe synonym: "Small end part of the 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022358 is_a: HP:0010170 ! Small epiphyses of the toes is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe created_by: doelkens creation_date: 2010-06-24T09:58:55Z [Term] id: HP:0100064 name: Stippling of the epiphyses of the 3rd toe def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd toe." [HPO:curators] synonym: "Speckled calcifications in the end part of the 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022357 is_a: HP:0010171 ! Epiphyseal stippling of toe phalanges is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe created_by: doelkens creation_date: 2010-06-24T09:58:55Z [Term] id: HP:0100065 name: Triangular epiphyses of the 3rd toe synonym: "Triangular end part of the 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022356 is_a: HP:0010172 ! Triangular epiphyses of the toes is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe created_by: doelkens creation_date: 2010-06-24T09:58:55Z [Term] id: HP:0100066 name: Absent epiphyses of the 4th toe synonym: "Absent end part of the 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022355 is_a: HP:0010162 ! Absent epiphyses of the toes is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe created_by: doelkens creation_date: 2010-06-24T09:59:30Z [Term] id: HP:0100067 name: Bracket epiphyses of the 4th toe synonym: "Bracket shaped end part of 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022354 is_a: HP:0010163 ! Bracket epiphyses of the toes is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe created_by: doelkens creation_date: 2010-06-24T09:59:30Z [Term] id: HP:0100068 name: Cone-shaped epiphyses of the 4th toe synonym: "Cone-shaped end part of the 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022353 is_a: HP:0010164 ! Cone-shaped epiphyses of the toes is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe created_by: doelkens creation_date: 2010-06-24T09:59:30Z [Term] id: HP:0100069 name: Enlarged epiphyses of the 4th toe synonym: "Enlarged end part of the 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022352 is_a: HP:0010165 ! Enlarged epiphyses of the toes is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe created_by: doelkens creation_date: 2010-06-24T09:59:30Z [Term] id: HP:0100070 name: Fragmentation of the epiphyses of the 4th toe synonym: "Fragmentation of the end part of the 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022351 is_a: HP:0010166 ! Fragmentation of the epiphyses of the toes is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe created_by: doelkens creation_date: 2010-06-24T09:59:30Z [Term] id: HP:0100071 name: Irregular epiphyses of the 4th toe synonym: "Irregular end part of the 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022350 is_a: HP:0010167 ! Irregular epiphyses of the toes is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe created_by: doelkens creation_date: 2010-06-24T09:59:30Z [Term] id: HP:0100072 name: Ivory epiphyses of the 4th toe def: "Epiphyses of the 4th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson] synonym: "Increased bone density of end part of the 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022349 is_a: HP:0010168 ! Ivory epiphyses of the toes is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe created_by: doelkens creation_date: 2010-06-24T09:59:30Z [Term] id: HP:0100073 name: Pseudoepiphyses of the 4th toe xref: UMLS:C4022348 is_a: HP:0010169 ! Pseudoepiphyses of the toes is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe created_by: doelkens creation_date: 2010-06-24T09:59:30Z [Term] id: HP:0100074 name: Small epiphyses of the 4th toe synonym: "Small end part of the 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022347 is_a: HP:0010170 ! Small epiphyses of the toes is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe created_by: doelkens creation_date: 2010-06-24T09:59:30Z [Term] id: HP:0100075 name: Stippling of the epiphyses of the 4th toe def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th toe." [HPO:curators] synonym: "Speckled calcifications in the end part of the 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022346 is_a: HP:0010171 ! Epiphyseal stippling of toe phalanges is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe created_by: doelkens creation_date: 2010-06-24T09:59:30Z [Term] id: HP:0100076 name: Triangular epiphyses of the 4th toe synonym: "Triangular end part of the 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022345 is_a: HP:0010172 ! Triangular epiphyses of the toes is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe created_by: doelkens creation_date: 2010-06-24T09:59:30Z [Term] id: HP:0100077 name: Absent epiphyses of the 5th toe synonym: "Absent end part of the little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent end part of the pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent end part of the pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022344 is_a: HP:0010162 ! Absent epiphyses of the toes is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe created_by: doelkens creation_date: 2010-06-24T10:00:02Z [Term] id: HP:0100078 name: Bracket epiphyses of the 5th toe synonym: "Bracket shaped end part of little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bracket shaped end part of pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bracket shaped end part of pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022343 is_a: HP:0010163 ! Bracket epiphyses of the toes is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe created_by: doelkens creation_date: 2010-06-24T10:00:02Z [Term] id: HP:0100079 name: Cone-shaped epiphyses of the 5th toe synonym: "Cone-shaped end part of the little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cone-shaped end part of the pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cone-shaped end part of the pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022342 is_a: HP:0010164 ! Cone-shaped epiphyses of the toes is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe created_by: doelkens creation_date: 2010-06-24T10:00:02Z [Term] id: HP:0100080 name: Enlarged epiphyses of the 5th toe synonym: "Enlarged end part of the little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Enlarged end part of the pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Enlarged end part of the pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022341 is_a: HP:0010165 ! Enlarged epiphyses of the toes is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe created_by: doelkens creation_date: 2010-06-24T10:00:02Z [Term] id: HP:0100081 name: Fragmentation of the epiphyses of the 5th toe synonym: "Fragmentation of the end part of the little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fragmentation of the end part of the pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fragmentation of the end part of the pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022340 is_a: HP:0010166 ! Fragmentation of the epiphyses of the toes is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe created_by: doelkens creation_date: 2010-06-24T10:00:02Z [Term] id: HP:0100082 name: Irregular epiphyses of the 5th toe synonym: "Irregular end part of the little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Irregular end part of the pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Irregular end part of the pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022339 is_a: HP:0010167 ! Irregular epiphyses of the toes is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe created_by: doelkens creation_date: 2010-06-24T10:00:02Z [Term] id: HP:0100083 name: Ivory epiphyses of the 5th toe def: "Epiphyses of the 5th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson] synonym: "Increased bone density of end part of the little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased bone density of end part of the pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased bone density of end part of the pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022338 is_a: HP:0010168 ! Ivory epiphyses of the toes is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe created_by: doelkens creation_date: 2010-06-24T10:00:02Z [Term] id: HP:0100084 name: Pseudoepiphyses of the 5th toe xref: UMLS:C4022337 is_a: HP:0010169 ! Pseudoepiphyses of the toes is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe created_by: doelkens creation_date: 2010-06-24T10:00:02Z [Term] id: HP:0100085 name: Small epiphyses of the 5th toe synonym: "Small end part of the little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Small end part of the pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Small end part of the pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022336 is_a: HP:0010170 ! Small epiphyses of the toes is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe created_by: doelkens creation_date: 2010-06-24T10:00:02Z [Term] id: HP:0100086 name: Stippling of the epiphyses of the 5th toe def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th toe." [HPO:curators] synonym: "Speckled calcifications in the end part of the little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Speckled calcifications in the end part of the pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Speckled calcifications in the end part of the pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022335 is_a: HP:0010171 ! Epiphyseal stippling of toe phalanges is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe created_by: doelkens creation_date: 2010-06-24T10:00:02Z [Term] id: HP:0100087 name: Triangular epiphyses of the 5th toe synonym: "Triangular end part of the little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular end part of the pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular end part of the pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022334 is_a: HP:0010172 ! Triangular epiphyses of the toes is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe created_by: doelkens creation_date: 2010-06-24T10:00:02Z [Term] id: HP:0100088 name: Abnormality of the epiphysis of the distal phalanx of the 2nd toe synonym: "Abnormality of the end part of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022333 is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:01:42Z [Term] id: HP:0100089 name: Abnormality of the epiphysis of the middle phalanx of the 2nd toe synonym: "Abnormality of the end part of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022332 is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:01:42Z [Term] id: HP:0100090 name: Abnormality of the epiphysis of the proximal phalanx of the 2nd toe synonym: "Abnormality of the end part of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022331 is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:01:42Z [Term] id: HP:0100091 name: Abnormality of the epiphysis of the distal phalanx of the 3rd toe synonym: "Abnormality of the end part of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022330 is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:02:07Z [Term] id: HP:0100092 name: Abnormality of the epiphysis of the middle phalanx of the 3rd toe synonym: "Abnormality of the end part of the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022329 is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:02:07Z [Term] id: HP:0100093 name: Abnormality of the epiphysis of the proximal phalanx of the 3rd toe synonym: "Abnormality of the end part of the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022328 is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:02:07Z [Term] id: HP:0100094 name: Abnormality of the epiphysis of the distal phalanx of the 4th toe synonym: "Abnormality of the end part of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022327 is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe created_by: doelkens creation_date: 2010-06-24T10:02:24Z [Term] id: HP:0100095 name: Abnormality of the epiphysis of the middle phalanx of the 4th toe synonym: "Abnormality of the end part of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022326 is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe created_by: doelkens creation_date: 2010-06-24T10:02:24Z [Term] id: HP:0100096 name: Abnormality of the epiphysis of the proximal phalanx of the 4th toe synonym: "Abnormality of the end part of the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022325 is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe created_by: doelkens creation_date: 2010-06-24T10:02:24Z [Term] id: HP:0100097 name: Abnormality of the epiphysis of the distal phalanx of the 5th toe synonym: "Abnormality of the end part of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the end part of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the end part of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022324 is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe created_by: doelkens creation_date: 2010-06-24T10:02:41Z [Term] id: HP:0100098 name: Abnormality of the epiphysis of the middle phalanx of the 5th toe synonym: "Abnormality of the end part of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the end part of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the end part of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022323 is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe created_by: doelkens creation_date: 2010-06-24T10:02:41Z [Term] id: HP:0100099 name: Abnormality of the epiphysis of the proximal phalanx of the 5th toe synonym: "Abnormality of the end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022322 is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe created_by: doelkens creation_date: 2010-06-24T10:02:41Z [Term] id: HP:0100100 name: Absent epiphysis of the distal phalanx of the 2nd toe synonym: "Absent end part of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022321 is_a: HP:0100044 ! Absent epiphyses of the 2nd toe is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:04:20Z [Term] id: HP:0100101 name: Bracket epiphysis of the distal phalanx of the 2nd toe synonym: "Bracket shaped end part of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022320 is_a: HP:0100045 ! Bracket epiphyses of the 2nd toe is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:04:20Z [Term] id: HP:0100102 name: Cone-shaped epiphysis of the distal phalanx of the 2nd toe synonym: "Cone-shaped end part of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022319 is_a: HP:0100046 ! Cone-shaped epiphyses of the 2nd toe is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:04:20Z [Term] id: HP:0100103 name: Enlarged epiphysis of the distal phalanx of the 2nd toe synonym: "Enlarged end part of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022318 is_a: HP:0100047 ! Enlarged epiphyses of the 2nd toe is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:04:20Z [Term] id: HP:0100104 name: Fragmentation of the epiphysis of the distal phalanx of the 2nd toe synonym: "Fragmentation of the end part of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022317 is_a: HP:0100048 ! Fragmentation of the epiphyses of the 2nd toe is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:04:20Z [Term] id: HP:0100105 name: Irregular epiphysis of the distal phalanx of the 2nd toe synonym: "Irregular end part of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022316 is_a: HP:0100049 ! Irregular epiphyses of the 2nd toe is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:04:20Z [Term] id: HP:0100106 name: Ivory epiphysis of the distal phalanx of the 2nd toe synonym: "Increased bone density of end part of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022315 is_a: HP:0100050 ! Ivory epiphyses of the 2nd toe is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:04:20Z [Term] id: HP:0100107 name: Pseudoepiphysis of the distal phalanx of the 2nd toe xref: UMLS:C4022314 is_a: HP:0100051 ! Pseudoepiphyses of the 2nd toe is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:04:20Z [Term] id: HP:0100108 name: Small epiphysis of the distal phalanx of the 2nd toe synonym: "Small end part of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022313 is_a: HP:0100052 ! Small epiphyses of the 2nd toe is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:04:20Z [Term] id: HP:0100109 name: Stippling of the epiphysis of the distal phalanx of the 2nd toe def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd toe." [HPO:curators] synonym: "Speckled calcifications in the end part of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022312 is_a: HP:0100053 ! Stippling of the epiphyses of the 2nd toe is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:04:20Z [Term] id: HP:0100110 name: Triangular epiphysis of the distal phalanx of the 2nd toe synonym: "Triangular end part of the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022311 is_a: HP:0100054 ! Triangular epiphyses of the 2nd toe is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:04:20Z [Term] id: HP:0100111 name: Absent epiphysis of the middle phalanx of the 2nd toe synonym: "Absent end part of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022310 is_a: HP:0100044 ! Absent epiphyses of the 2nd toe is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:05:37Z [Term] id: HP:0100112 name: Bracket epiphysis of the middle phalanx of the 2nd toe synonym: "Bracket shaped end part of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022309 is_a: HP:0100045 ! Bracket epiphyses of the 2nd toe is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:05:37Z [Term] id: HP:0100113 name: Cone-shaped epiphysis of the middle phalanx of the 2nd toe synonym: "Cone-shaped end part of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022308 is_a: HP:0100046 ! Cone-shaped epiphyses of the 2nd toe is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:05:37Z [Term] id: HP:0100114 name: Enlarged epiphysis of the middle phalanx of the 2nd toe synonym: "Enlarged end part of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022307 is_a: HP:0100047 ! Enlarged epiphyses of the 2nd toe is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:05:37Z [Term] id: HP:0100115 name: Fragmentation of the epiphysis of the middle phalanx of the 2nd toe synonym: "Fragmentation of the end part of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022306 is_a: HP:0100048 ! Fragmentation of the epiphyses of the 2nd toe is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:05:37Z [Term] id: HP:0100116 name: Irregular epiphysis of the middle phalanx of the 2nd toe synonym: "Irregular end part of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022305 is_a: HP:0100049 ! Irregular epiphyses of the 2nd toe is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:05:37Z [Term] id: HP:0100117 name: Ivory epiphysis of the middle phalanx of the 2nd toe synonym: "Increased bone density of end part of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022304 is_a: HP:0100050 ! Ivory epiphyses of the 2nd toe is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:05:37Z [Term] id: HP:0100118 name: Pseudoepiphysis of the middle phalanx of the 2nd toe xref: UMLS:C4022303 is_a: HP:0100051 ! Pseudoepiphyses of the 2nd toe is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:05:37Z [Term] id: HP:0100119 name: Small epiphysis of the middle phalanx of the 2nd toe synonym: "Small end part of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022302 is_a: HP:0100052 ! Small epiphyses of the 2nd toe is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:05:37Z [Term] id: HP:0100120 name: Stippling of the epiphysis of the middle phalanx of the 2nd toe def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 2nd toe." [HPO:curators] synonym: "Speckled calcifications in of the end part of the middle bone of the 2nd toe" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4022301 is_a: HP:0100053 ! Stippling of the epiphyses of the 2nd toe is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:05:37Z [Term] id: HP:0100121 name: Triangular epiphysis of the middle phalanx of the 2nd toe synonym: "Triangular end part of the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022300 is_a: HP:0100054 ! Triangular epiphyses of the 2nd toe is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:05:37Z [Term] id: HP:0100122 name: Absent epiphysis of the proximal phalanx of the 2nd toe synonym: "Absent end part of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022299 is_a: HP:0100044 ! Absent epiphyses of the 2nd toe is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:06:29Z [Term] id: HP:0100123 name: Bracket epiphysis of the proximal phalanx of the 2nd toe synonym: "Bracket shaped end part of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022298 is_a: HP:0100045 ! Bracket epiphyses of the 2nd toe is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:06:29Z [Term] id: HP:0100124 name: Cone-shaped epiphysis of the proximal phalanx of the 2nd toe synonym: "Cone-shaped end part of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022297 is_a: HP:0100046 ! Cone-shaped epiphyses of the 2nd toe is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:06:29Z [Term] id: HP:0100125 name: Enlarged epiphysis of the proximal phalanx of the 2nd toe synonym: "Enlarged end part of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022296 is_a: HP:0100047 ! Enlarged epiphyses of the 2nd toe is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:06:29Z [Term] id: HP:0100126 name: Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe synonym: "Fragmentation of the end part of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022295 is_a: HP:0100048 ! Fragmentation of the epiphyses of the 2nd toe is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:06:29Z [Term] id: HP:0100127 name: Irregular epiphysis of the proximal phalanx of the 2nd toe synonym: "Irregular end part of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022294 is_a: HP:0100049 ! Irregular epiphyses of the 2nd toe is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:06:29Z [Term] id: HP:0100128 name: Ivory epiphysis of the proximal phalanx of the 2nd toe synonym: "Increased bone density of end part of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022293 is_a: HP:0100050 ! Ivory epiphyses of the 2nd toe is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:06:29Z [Term] id: HP:0100129 name: Pseudoepiphysis of the proximal phalanx of the 2nd toe xref: UMLS:C4022292 is_a: HP:0100051 ! Pseudoepiphyses of the 2nd toe is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:06:29Z [Term] id: HP:0100130 name: Small epiphysis of the proximal phalanx of the 2nd toe synonym: "Small end part of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022291 is_a: HP:0100052 ! Small epiphyses of the 2nd toe is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:06:29Z [Term] id: HP:0100131 name: Stippling of the epiphysis of the proximal phalanx of the 2nd toe def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 2nd toe." [HPO:curators] synonym: "Speckled calcifications in the end part of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022290 is_a: HP:0100053 ! Stippling of the epiphyses of the 2nd toe is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:06:29Z [Term] id: HP:0100132 name: Triangular epiphysis of the proximal phalanx of the 2nd toe synonym: "Triangular end part of the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022289 is_a: HP:0100054 ! Triangular epiphyses of the 2nd toe is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:06:29Z [Term] id: HP:0100133 name: Abnormality of the pubic hair def: "Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty." [HPO:sdoelken] synonym: "Abnormality of the pubic hair" EXACT layperson [] xref: UMLS:C4022288 is_a: HP:0009888 ! Abnormality of secondary sexual hair created_by: doelkens creation_date: 2010-06-24T10:15:30Z [Term] id: HP:0100134 name: Abnormality of the axillary hair def: "Abnormality of the growth of the axillary hair. Axillary hair is part of the secondary sexual hair, which normally ensues during puberty." [HPO:sdoelken] xref: UMLS:C4022287 is_a: HP:0009888 ! Abnormality of secondary sexual hair created_by: doelkens creation_date: 2010-06-24T10:17:00Z [Term] id: HP:0100135 name: Absent epiphysis of the distal phalanx of the 3rd toe synonym: "Absent end part of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022286 is_a: HP:0100055 ! Absent epiphyses of the 3rd toe is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:23:44Z [Term] id: HP:0100136 name: Bracket epiphysis of the distal phalanx of the 3rd toe synonym: "Bracket shaped end part of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022285 is_a: HP:0100056 ! Bracket epiphyses of the 3rd toe is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:23:44Z [Term] id: HP:0100137 name: Cone-shaped epiphysis of the distal phalanx of the 3rd toe synonym: "Cone-shaped end part of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022284 is_a: HP:0100057 ! Cone-shaped epiphyses of the 3rd toe is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:23:44Z [Term] id: HP:0100138 name: Enlarged epiphysis of the distal phalanx of the 3rd toe synonym: "Enlarged end part of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022283 is_a: HP:0100058 ! Enlarged epiphyses of the 3rd toe is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:23:44Z [Term] id: HP:0100139 name: Fragmentation of the epiphysis of the distal phalanx of the 3rd toe synonym: "Fragmentation of the end part of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022282 is_a: HP:0100059 ! Fragmentation of the epiphyses of the 3rd toe is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:23:44Z [Term] id: HP:0100140 name: Irregular epiphysis of the distal phalanx of the 3rd toe synonym: "Irregular end part of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022281 is_a: HP:0100060 ! Irregular epiphyses of the 3rd toe is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:23:44Z [Term] id: HP:0100141 name: Ivory epiphysis of the distal phalanx of the 3rd toe synonym: "Increased bone density of end part of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022280 is_a: HP:0100061 ! Ivory epiphyses of the 3rd toe is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:23:44Z [Term] id: HP:0100142 name: Pseudoepiphysis of the distal phalanx of the 3rd toe xref: UMLS:C4022279 is_a: HP:0100062 ! Pseudoepiphyses of the 3rd toe is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:23:44Z [Term] id: HP:0100143 name: Small epiphysis of the distal phalanx of the 3rd toe synonym: "Small end part of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022278 is_a: HP:0100063 ! Small epiphyses of the 3rd toe is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:23:44Z [Term] id: HP:0100144 name: Stippling of the epiphysis of the distal phalanx of the 3rd toe def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 3rd toe." [HPO:curators] synonym: "Speckled calcifications in the end part of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022277 is_a: HP:0100064 ! Stippling of the epiphyses of the 3rd toe is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:23:44Z [Term] id: HP:0100145 name: Triangular epiphysis of the distal phalanx of the 3rd toe synonym: "Triangular end part of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022276 is_a: HP:0100065 ! Triangular epiphyses of the 3rd toe is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:23:44Z [Term] id: HP:0100146 name: Absent epiphysis of the middle phalanx of the 3rd toe synonym: "Absent end part of the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022275 is_a: HP:0100055 ! Absent epiphyses of the 3rd toe is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:13Z [Term] id: HP:0100147 name: Bracket epiphysis of the middle phalanx of the 3rd toe synonym: "Bracket shaped end part of the middle bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022274 is_a: HP:0100056 ! Bracket epiphyses of the 3rd toe is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:13Z [Term] id: HP:0100148 name: Cone-shaped epiphysis of the middle phalanx of the 3rd toe synonym: "Cone-shaped end part of the middle bone of the 3rd toe" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4022273 is_a: HP:0100057 ! Cone-shaped epiphyses of the 3rd toe is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:13Z [Term] id: HP:0100149 name: Enlarged epiphysis of the middle phalanx of the 3rd toe synonym: "Enlarged end part of the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022272 is_a: HP:0100058 ! Enlarged epiphyses of the 3rd toe is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:13Z [Term] id: HP:0100150 name: Fragmentation of the epiphysis of the middle phalanx of the 3rd toe synonym: "Fragmentation of the end part of the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022271 is_a: HP:0100059 ! Fragmentation of the epiphyses of the 3rd toe is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:13Z [Term] id: HP:0100151 name: Irregular epiphysis of the middle phalanx of the 3rd toe synonym: "Irregular end part of the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022270 is_a: HP:0100060 ! Irregular epiphyses of the 3rd toe is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:13Z [Term] id: HP:0100152 name: Ivory epiphysis of the middle phalanx of the 3rd toe synonym: "Increased bone density of end part of the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022269 is_a: HP:0100061 ! Ivory epiphyses of the 3rd toe is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:13Z [Term] id: HP:0100153 name: Pseudoepiphysis of the middle phalanx of the 3rd toe xref: UMLS:C4022268 is_a: HP:0100062 ! Pseudoepiphyses of the 3rd toe is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:13Z [Term] id: HP:0100154 name: Small epiphysis of the middle phalanx of the 3rd toe synonym: "Small end part of the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022267 is_a: HP:0100063 ! Small epiphyses of the 3rd toe is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:13Z [Term] id: HP:0100155 name: Stippling of the epiphysis of the middle phalanx of the 3rd toe def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 3rd toe." [HPO:curators] synonym: "Speckled calcifications in the end part of the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022266 is_a: HP:0100064 ! Stippling of the epiphyses of the 3rd toe is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:13Z [Term] id: HP:0100156 name: Triangular epiphysis of the middle phalanx of the 3rd toe synonym: "Triangular end part of the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022265 is_a: HP:0100065 ! Triangular epiphyses of the 3rd toe is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:13Z [Term] id: HP:0100157 name: Absent epiphysis of the proximal phalanx of the 3rd toe synonym: "Absent end part of the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022264 is_a: HP:0100055 ! Absent epiphyses of the 3rd toe is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:45Z [Term] id: HP:0100158 name: Bracket epiphysis of the proximal phalanx of the 3rd toe synonym: "Bracket shaped end part of the innermost bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022263 is_a: HP:0100056 ! Bracket epiphyses of the 3rd toe is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:45Z [Term] id: HP:0100159 name: Cone-shaped epiphysis of the proximal phalanx of the 3rd toe synonym: "Cone-shaped end part of the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022262 is_a: HP:0100057 ! Cone-shaped epiphyses of the 3rd toe is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:45Z [Term] id: HP:0100160 name: Enlarged epiphysis of the proximal phalanx of the 3rd toe synonym: "Enlarged end part of the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022261 is_a: HP:0100058 ! Enlarged epiphyses of the 3rd toe is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:45Z [Term] id: HP:0100161 name: Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe synonym: "Fragmentation of the end part of the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022260 is_a: HP:0100059 ! Fragmentation of the epiphyses of the 3rd toe is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:45Z [Term] id: HP:0100162 name: Irregular epiphysis of the proximal phalanx of the 3rd toe synonym: "Irregular end part of the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022259 is_a: HP:0100060 ! Irregular epiphyses of the 3rd toe is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:45Z [Term] id: HP:0100163 name: Ivory epiphysis of the proximal phalanx of the 3rd toe synonym: "Increased bone density of end part of the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022258 is_a: HP:0100061 ! Ivory epiphyses of the 3rd toe is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:45Z [Term] id: HP:0100164 name: Pseudoepiphysis of the proximal phalanx of the 3rd toe xref: UMLS:C4022257 is_a: HP:0100062 ! Pseudoepiphyses of the 3rd toe is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:45Z [Term] id: HP:0100165 name: Small epiphysis of the proximal phalanx of the 3rd toe synonym: "Small end part of the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022256 is_a: HP:0100063 ! Small epiphyses of the 3rd toe is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:45Z [Term] id: HP:0100166 name: Stippling of the epiphysis of the proximal phalanx of the 3rd toe def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 3rd toe." [HPO:curators] synonym: "Speckled calcifications in of the end part of the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022255 is_a: HP:0100064 ! Stippling of the epiphyses of the 3rd toe is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:45Z [Term] id: HP:0100167 name: Triangular epiphysis of the proximal phalanx of the 3rd toe synonym: "Triangular end part of the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022254 is_a: HP:0100065 ! Triangular epiphyses of the 3rd toe is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:45Z [Term] id: HP:0100168 name: Fragmented epiphyses def: "Fragmented appearance of the epiphyses." [HPO:sdoelken] synonym: "Fragmented end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022253 is_a: HP:0005930 ! Abnormality of epiphysis morphology created_by: doelkens creation_date: 2010-06-24T11:07:51Z [Term] id: HP:0100169 name: Absent epiphysis of the distal phalanx of the 4th toe synonym: "Absent end part of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022252 is_a: HP:0100066 ! Absent epiphyses of the 4th toe is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:53:36Z [Term] id: HP:0100170 name: Bracket epiphysis of the distal phalanx of the 4th toe synonym: "Bracket shaped end part of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022251 is_a: HP:0100067 ! Bracket epiphyses of the 4th toe is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:53:36Z [Term] id: HP:0100171 name: Cone-shaped epiphysis of the distal phalanx of the 4th toe synonym: "Cone-shaped end part of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022250 is_a: HP:0100068 ! Cone-shaped epiphyses of the 4th toe is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:53:36Z [Term] id: HP:0100172 name: Enlarged epiphysis of the distal phalanx of the 4th toe synonym: "Enlarged end part of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022249 is_a: HP:0100069 ! Enlarged epiphyses of the 4th toe is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:53:36Z [Term] id: HP:0100173 name: Fragmentation of the epiphysis of the distal phalanx of the 4th toe synonym: "Fragmentation of the end part of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022248 is_a: HP:0100070 ! Fragmentation of the epiphyses of the 4th toe is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:53:36Z [Term] id: HP:0100174 name: Irregular epiphysis of the distal phalanx of the 4th toe synonym: "Irregular end part of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022247 is_a: HP:0100071 ! Irregular epiphyses of the 4th toe is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:53:36Z [Term] id: HP:0100175 name: Ivory epiphysis of the distal phalanx of the 4th toe synonym: "Increased bone density of end part of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022246 is_a: HP:0100072 ! Ivory epiphyses of the 4th toe is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:53:36Z [Term] id: HP:0100176 name: Pseudoepiphysis of the distal phalanx of the 4th toe xref: UMLS:C4022245 is_a: HP:0100073 ! Pseudoepiphyses of the 4th toe is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:53:36Z [Term] id: HP:0100177 name: Small epiphysis of the distal phalanx of the 4th toe synonym: "Small end part of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022244 is_a: HP:0100074 ! Small epiphyses of the 4th toe is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:53:36Z [Term] id: HP:0100178 name: Stippling of the epiphysis of the distal phalanx of the 4th toe def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 4th toe." [HPO:curators] synonym: "Speckled calcifications in the end part of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022243 is_a: HP:0100075 ! Stippling of the epiphyses of the 4th toe is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:53:36Z [Term] id: HP:0100179 name: Triangular epiphysis of the distal phalanx of the 4th toe synonym: "Triangular end part of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022242 is_a: HP:0100076 ! Triangular epiphyses of the 4th toe is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:53:36Z [Term] id: HP:0100180 name: Absent epiphysis of the middle phalanx of the 4th toe synonym: "Absent end part of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022241 is_a: HP:0100066 ! Absent epiphyses of the 4th toe is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:13Z [Term] id: HP:0100181 name: Bracket epiphysis of the middle phalanx of the 4th toe synonym: "Bracket shaped end part of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022240 is_a: HP:0100067 ! Bracket epiphyses of the 4th toe is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:13Z [Term] id: HP:0100182 name: Cone-shaped epiphysis of the middle phalanx of the 4th toe synonym: "Cone-shaped end part of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022239 is_a: HP:0100068 ! Cone-shaped epiphyses of the 4th toe is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:13Z [Term] id: HP:0100183 name: Enlarged epiphysis of the middle phalanx of the 4th toe synonym: "Enlarged end part of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022238 is_a: HP:0100069 ! Enlarged epiphyses of the 4th toe is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:13Z [Term] id: HP:0100184 name: Fragmentation of the epiphysis of the middle phalanx of the 4th toe synonym: "Fragmentation of the end part of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022237 is_a: HP:0100070 ! Fragmentation of the epiphyses of the 4th toe is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:13Z [Term] id: HP:0100185 name: Irregular epiphysis of the middle phalanx of the 4th toe synonym: "Irregular end part of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022236 is_a: HP:0100071 ! Irregular epiphyses of the 4th toe is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:13Z [Term] id: HP:0100186 name: Ivory epiphysis of the middle phalanx of the 4th toe synonym: "Increased bone density of end part of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022235 is_a: HP:0100072 ! Ivory epiphyses of the 4th toe is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:13Z [Term] id: HP:0100187 name: Pseudoepiphysis of the middle phalanx of the 4th toe xref: UMLS:C4022234 is_a: HP:0100073 ! Pseudoepiphyses of the 4th toe is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:13Z [Term] id: HP:0100188 name: Small epiphysis of the middle phalanx of the 4th toe synonym: "Small end part of middle long bone of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022233 is_a: HP:0100074 ! Small epiphyses of the 4th toe is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:13Z [Term] id: HP:0100189 name: Stippling of the epiphysis of the middle phalanx of the 4th toe def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 4th toe." [HPO:curators] synonym: "Speckled calcifications in the end part of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022232 is_a: HP:0100075 ! Stippling of the epiphyses of the 4th toe is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:13Z [Term] id: HP:0100190 name: Triangular epiphysis of the middle phalanx of the 4th toe synonym: "Triangular end part of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022231 is_a: HP:0100076 ! Triangular epiphyses of the 4th toe is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:13Z [Term] id: HP:0100191 name: Absent epiphysis of the proximal phalanx of the 4th toe synonym: "Absent end part of the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022230 is_a: HP:0100066 ! Absent epiphyses of the 4th toe is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:59Z [Term] id: HP:0100192 name: Bracket epiphysis of the proximal phalanx of the 4th toe synonym: "Bracket shaped end part of the innermost bone of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022229 is_a: HP:0100067 ! Bracket epiphyses of the 4th toe is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:59Z [Term] id: HP:0100193 name: Cone-shaped epiphysis of the proximal phalanx of the 4th toe synonym: "Cone-shaped end part of the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022228 is_a: HP:0100068 ! Cone-shaped epiphyses of the 4th toe is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:59Z [Term] id: HP:0100194 name: Enlarged epiphysis of the proximal phalanx of the 4th toe synonym: "Enlarged end part of the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022227 is_a: HP:0100069 ! Enlarged epiphyses of the 4th toe is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:59Z [Term] id: HP:0100195 name: Fragmentation of the epiphysis of the proximal phalanx of the 4th toe synonym: "Fragmentation of the end part of the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022226 is_a: HP:0100070 ! Fragmentation of the epiphyses of the 4th toe is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:59Z [Term] id: HP:0100196 name: Irregular epiphysis of the proximal phalanx of the 4th toe synonym: "Irregular end part of the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022225 is_a: HP:0100071 ! Irregular epiphyses of the 4th toe is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:59Z [Term] id: HP:0100197 name: Ivory epiphysis of the proximal phalanx of the 4th toe synonym: "Increased bone density of end part of the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022224 is_a: HP:0100072 ! Ivory epiphyses of the 4th toe is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:59Z [Term] id: HP:0100198 name: Pseudoepiphysis of the proximal phalanx of the 4th toe xref: UMLS:C4022223 is_a: HP:0100073 ! Pseudoepiphyses of the 4th toe is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:59Z [Term] id: HP:0100199 name: Small epiphysis of the proximal phalanx of the 4th toe synonym: "Small end part of the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022222 is_a: HP:0100074 ! Small epiphyses of the 4th toe is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:59Z [Term] id: HP:0100200 name: Stippling of the epiphysis of the proximal phalanx of the 4th toe def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 4th toe." [HPO:curators] synonym: "Speckled calcifications in the end part of the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022221 is_a: HP:0100075 ! Stippling of the epiphyses of the 4th toe is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:59Z [Term] id: HP:0100201 name: Triangular epiphysis of the proximal phalanx of the 4th toe synonym: "Triangular end part of the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022220 is_a: HP:0100076 ! Triangular epiphyses of the 4th toe is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:59Z [Term] id: HP:0100202 name: Absent epiphysis of the distal phalanx of the 5th toe synonym: "Absent end part of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent end part of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent end part of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022219 is_a: HP:0100077 ! Absent epiphyses of the 5th toe is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:03:31Z [Term] id: HP:0100203 name: Bracket epiphysis of the distal phalanx of the 5th toe synonym: "Bracket shaped end part of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bracket shaped end part of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bracket shaped end part of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022218 is_a: HP:0100078 ! Bracket epiphyses of the 5th toe is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:03:31Z [Term] id: HP:0100204 name: Cone-shaped epiphysis of the distal phalanx of the 5th toe synonym: "Cone-shaped end part of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cone-shaped end part of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cone-shaped end part of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022217 is_a: HP:0100079 ! Cone-shaped epiphyses of the 5th toe is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:03:31Z [Term] id: HP:0100205 name: Enlarged epiphysis of the distal phalanx of the 5th toe synonym: "Enlarged end part of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Enlarged end part of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Enlarged end part of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022216 is_a: HP:0100080 ! Enlarged epiphyses of the 5th toe is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:03:31Z [Term] id: HP:0100206 name: Fragmentation of the epiphysis of the distal phalanx of the 5th toe synonym: "Fragmentation of the end part of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fragmentation of the end part of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fragmentation of the end part of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022215 is_a: HP:0100081 ! Fragmentation of the epiphyses of the 5th toe is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:03:31Z [Term] id: HP:0100207 name: Irregular epiphysis of the distal phalanx of the 5th toe synonym: "Irregular end part of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Irregular end part of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Irregular end part of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022214 is_a: HP:0100082 ! Irregular epiphyses of the 5th toe is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:03:31Z [Term] id: HP:0100208 name: Ivory epiphysis of the distal phalanx of the 5th toe synonym: "Increased bone density of end part of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased bone density of end part of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased bone density of end part of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022213 is_a: HP:0100083 ! Ivory epiphyses of the 5th toe is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:03:31Z [Term] id: HP:0100209 name: Pseudoepiphysis of the distal phalanx of the 5th toe xref: UMLS:C4022212 is_a: HP:0100084 ! Pseudoepiphyses of the 5th toe is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:03:31Z [Term] id: HP:0100210 name: Small epiphysis of the distal phalanx of the 5th toe synonym: "Small end part of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Small end part of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Small end part of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022211 is_a: HP:0100085 ! Small epiphyses of the 5th toe is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:03:31Z [Term] id: HP:0100211 name: Stippling of the epiphysis of the distal phalanx of the 5th toe def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 5th toe." [HPO:curators] synonym: "Speckled calcifications in the end part of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Speckled calcifications in the end part of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Speckled calcifications in the end part of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022210 is_a: HP:0100086 ! Stippling of the epiphyses of the 5th toe is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:03:31Z [Term] id: HP:0100212 name: Triangular epiphysis of the distal phalanx of the 5th toe synonym: "Triangular end part of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular end part of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular end part of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022209 is_a: HP:0100087 ! Triangular epiphyses of the 5th toe is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:03:31Z [Term] id: HP:0100213 name: Absent epiphysis of the middle phalanx of the 5th toe synonym: "Absent end part of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent end part of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent end part of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022208 is_a: HP:0100077 ! Absent epiphyses of the 5th toe is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:00Z [Term] id: HP:0100214 name: Bracket epiphysis of the middle phalanx of the 5th toe synonym: "Bracket shaped end part of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bracket shaped end part of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bracket shaped end part of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022207 is_a: HP:0100078 ! Bracket epiphyses of the 5th toe is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:00Z [Term] id: HP:0100215 name: Cone-shaped epiphysis of the middle phalanx of the 5th toe synonym: "Cone-shaped end part of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cone-shaped end part of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cone-shaped end part of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022206 is_a: HP:0100079 ! Cone-shaped epiphyses of the 5th toe is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:00Z [Term] id: HP:0100216 name: Enlarged epiphysis of the middle phalanx of the 5th toe synonym: "Enlarged end part of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Enlarged end part of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Enlarged end part of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022205 is_a: HP:0100080 ! Enlarged epiphyses of the 5th toe is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:00Z [Term] id: HP:0100217 name: Fragmentation of the epiphysis of the middle phalanx of the 5th toe synonym: "Fragmentation of the end part of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fragmentation of the end part of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fragmentation of the end part of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022204 is_a: HP:0100081 ! Fragmentation of the epiphyses of the 5th toe is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:00Z [Term] id: HP:0100218 name: Irregular epiphysis of the middle phalanx of the 5th toe synonym: "Irregular end part of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Irregular end part of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Irregular end part of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022203 is_a: HP:0100082 ! Irregular epiphyses of the 5th toe is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:00Z [Term] id: HP:0100219 name: Ivory epiphysis of the middle phalanx of the 5th toe synonym: "Increased bone density of end part of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased bone density of end part of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased bone density of end part of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022202 is_a: HP:0100083 ! Ivory epiphyses of the 5th toe is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:00Z [Term] id: HP:0100220 name: Pseudoepiphysis of the middle phalanx of the 5th toe xref: UMLS:C4022201 is_a: HP:0100084 ! Pseudoepiphyses of the 5th toe is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:00Z [Term] id: HP:0100221 name: Small epiphysis of the middle phalanx of the 5th toe synonym: "Small end part of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Small end part of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Small end part of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022200 is_a: HP:0100085 ! Small epiphyses of the 5th toe is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:00Z [Term] id: HP:0100222 name: Stippling of the epiphysis of the middle phalanx of the 5th toe def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 5th toe." [HPO:curators] synonym: "Speckled calcifications in end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Speckled calcifications in end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Speckled calcifications in end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022199 is_a: HP:0100086 ! Stippling of the epiphyses of the 5th toe is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:00Z [Term] id: HP:0100223 name: Triangular epiphysis of the middle phalanx of the 5th toe synonym: "Triangular end part of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular end part of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular end part of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022198 is_a: HP:0100087 ! Triangular epiphyses of the 5th toe is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:00Z [Term] id: HP:0100224 name: Absent epiphysis of the proximal phalanx of the 5th toe synonym: "Absent end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022197 is_a: HP:0100077 ! Absent epiphyses of the 5th toe is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:53Z [Term] id: HP:0100225 name: Bracket epiphysis of the proximal phalanx of the 5th toe synonym: "Bracket shaped end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bracket shaped end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bracket shaped end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022196 is_a: HP:0100078 ! Bracket epiphyses of the 5th toe is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:53Z [Term] id: HP:0100226 name: Cone-shaped epiphysis of the proximal phalanx of the 5th toe synonym: "Cone-shaped end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cone-shaped end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Cone-shaped end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022195 is_a: HP:0100079 ! Cone-shaped epiphyses of the 5th toe is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:53Z [Term] id: HP:0100227 name: Enlarged epiphysis of the proximal phalanx of the 5th toe synonym: "Enlarged end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Enlarged end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Enlarged end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022194 is_a: HP:0100080 ! Enlarged epiphyses of the 5th toe is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:53Z [Term] id: HP:0100228 name: Fragmentation of the epiphysis of the proximal phalanx of the 5th toe synonym: "Fragmentation of the end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fragmentation of the end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fragmentation of the end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022193 is_a: HP:0100081 ! Fragmentation of the epiphyses of the 5th toe is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:53Z [Term] id: HP:0100229 name: Irregular epiphysis of the proximal phalanx of the 5th toe synonym: "Irregular end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Irregular end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Irregular end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022192 is_a: HP:0100082 ! Irregular epiphyses of the 5th toe is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:53Z [Term] id: HP:0100230 name: Ivory epiphysis of the proximal phalanx of the 5th toe synonym: "Increased bone density of end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased bone density of end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased bone density of end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022191 is_a: HP:0100083 ! Ivory epiphyses of the 5th toe is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:53Z [Term] id: HP:0100231 name: Pseudoepiphysis of the proximal phalanx of the 5th toe xref: UMLS:C4022190 is_a: HP:0100084 ! Pseudoepiphyses of the 5th toe is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:53Z [Term] id: HP:0100232 name: Small epiphysis of the proximal phalanx of the 5th toe synonym: "Small end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Small end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Small end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022189 is_a: HP:0100085 ! Small epiphyses of the 5th toe is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:53Z [Term] id: HP:0100233 name: Stippling of the epiphysis of the proximal phalanx of the 5th toe def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 5th toe." [HPO:curators] synonym: "Speckled calcifications in the end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Speckled calcifications in the end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Speckled calcifications in the end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022188 is_a: HP:0100086 ! Stippling of the epiphyses of the 5th toe is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:53Z [Term] id: HP:0100234 name: Triangular epiphysis of the proximal phalanx of the 5th toe synonym: "Triangular end part of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular end part of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular end part of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022187 is_a: HP:0100087 ! Triangular epiphyses of the 5th toe is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:53Z [Term] id: HP:0100235 name: Synostosis involving bones of the toes synonym: "Fusion involving bones of the toes" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022186 is_a: HP:0009140 ! Synostosis involving bones of the feet is_a: HP:0100262 ! Synostosis involving digits created_by: doelkens creation_date: 2010-06-24T05:26:38Z [Term] id: HP:0100237 name: Proximal foot symphalangism xref: UMLS:C4022185 is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0100235 ! Synostosis involving bones of the toes is_a: HP:0100264 ! Proximal symphalangism created_by: doelkens creation_date: 2010-06-24T05:37:18Z [Term] id: HP:0100238 name: Synostosis involving bones of the upper limbs def: "An abnormal union between bones or parts of bones of the upper limbs." [HPO:sdoelken] synonym: "Fusion involving bones of the upper limbs" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022184 is_a: HP:0009810 ! Abnormality of upper limb joint is_a: HP:0100240 ! Synostosis of joints created_by: doelkens creation_date: 2010-06-24T05:49:08Z [Term] id: HP:0100240 name: Synostosis of joints def: "The abnormal fusion of neighboring bones across a joint." [HPO:probinson] comment: Note that contracture refers to a reduction of joint mobility due to permanent shortening of the soft parts around a joint, muscles, tendons, ligaments, fasciae, or skin. Ankylosis and contracture can occur together or alone. Fibrous ankylosis refers to adhesions between the opposing surface of a joint. Cartilaginous ankylosis implies the fusion of two apposed cartilaginous surfaces. Bony ankylosis or synostosis refers to an osseous union between articulating surfaces. synonym: "Bony ankylosis" EXACT [] synonym: "Fusion of joints" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022183 is_a: HP:0011729 ! Abnormality of joint mobility created_by: doelkens creation_date: 2010-06-24T06:04:02Z [Term] id: HP:0100241 name: Ectopic respiratory mucosa def: "Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations." [HPO:sdoelken] comment: Ectopic respiratory mucosa is a very rare finding and has been associated with unilateral skeletal malformation, most commonly with preaxial polydactyly which may be mirror-image like. xref: UMLS:C4022182 is_a: HP:0002973 ! Abnormality of the forearm is_a: HP:0012253 ! Abnormal respiratory epithelium morphology created_by: doelkens creation_date: 2010-06-29T11:18:12Z [Term] id: HP:0100242 name: Sarcoma def: "A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant." [HPO:sdoelken] comment: A sarcoma (from the Greek sarx meaning flesh) is a general term describing a malignant neoplasm, or cancer, that arises from transformed connective tissue cells such as bone, cartilage and fat cells, which originate from embryonic mesoderm. This is in contrast to carcinomas, which are of epithelial origin (breast, colon, pancreas, and others). However, due to an evolving understanding of tissue origin, the term sarcoma is sometimes applied to tumors now known to arise from epithelial tissue. The term soft tissue sarcoma is used to describe tumors of soft tissue, which includes elements that are in connective tissue, but not derived from it (such as muscles and blood vessels). synonym: "Cancer of connective tissue" EXACT layperson [] synonym: "Malignant connective tissue tumor" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:D012509 xref: NCIT:C9118 xref: SNOMEDCT_US:2424003 xref: SNOMEDCT_US:269469005 xref: SNOMEDCT_US:424413001 xref: SNOMEDCT_US:424952003 xref: UMLS:C1261473 is_a: HP:0011792 ! Neoplasm by histology created_by: doelkens creation_date: 2010-07-08T10:43:57Z [Term] id: HP:0100243 name: Leiomyosarcoma def: "A smooth muscle connective tissue tumor, which is rare type of cancer that is a malignant neoplasm of smooth muscle. When such a neoplasm is benign, it is called a leiomyoma." [HPO:sdoelken] xref: MSH:D007890 xref: NCIT:C3158 xref: SNOMEDCT_US:443719001 xref: SNOMEDCT_US:51549004 xref: UMLS:C0023269 is_a: HP:0030448 ! Soft tissue sarcoma created_by: doelkens creation_date: 2010-07-08T10:49:35Z [Term] id: HP:0100244 name: Fibrosarcoma def: "A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells." [HPO:sdoelken] xref: MSH:D005354 xref: NCIT:C6605 xref: SNOMEDCT_US:443250000 xref: SNOMEDCT_US:53654007 xref: UMLS:C0016057 is_a: HP:0030448 ! Soft tissue sarcoma created_by: doelkens creation_date: 2010-07-08T10:55:40Z [Term] id: HP:0100245 name: Desmoid tumors def: "Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine." [HPO:sdoelken] comment: Most cases are sporadic, but some are associated with familial adenomatous polyposis (FAP). Approximately 10% of individuals with Gardner's syndrome, a type of FAP with extracolonic features, have desmoid tumors.\nRisk factors for desmoid disease amongst FAP patients include female gender, a 3' APC mutation, a positive family history and a history of previous abdominal surgery. xref: MSH:D018222 xref: NCIT:C3042 xref: SNOMEDCT_US:399994005 xref: SNOMEDCT_US:400055004 xref: SNOMEDCT_US:47284001 xref: UMLS:C0079218 is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract is_a: HP:0010614 ! Fibroma is_a: HP:0100244 ! Fibrosarcoma created_by: doelkens creation_date: 2010-07-08T10:57:06Z [Term] id: HP:0100246 name: Osteoma def: "Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant." [HPO:sdoelken] xref: MSH:D010016 xref: NCIT:C3296 xref: SNOMEDCT_US:302858007 xref: SNOMEDCT_US:83612000 xref: UMLS:C0029440 is_a: HP:0010622 ! Neoplasm of the skeletal system created_by: doelkens creation_date: 2010-07-08T11:38:30Z [Term] id: HP:0100247 name: Recurrent singultus def: "A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc." [HPO:sdoelken] comment: A bout of hiccups, in general, resolves itself without intervention, although many home remedies claim to shorten the duration, and medical treatment is occasionally necessary in cases of chronic hiccups. Hiccups are caused by many central and peripheral nervous system disorders, all from injury or irritation to the phrenic and vagus nerves, as well as toxic or metabolic disorders affecting the aforementioned systems. Hiccups often occur after consuming carbonated beverages, alcohol, dry breads, or spicy foods. Prolonged laughter or eating too fast are also known to cause hiccups. Persistent or intractable hiccups may be caused by any condition which irritates or damages the relevant nerves. synonym: "Hiccup" RELATED layperson [] synonym: "Hiccups" RELATED [HPO:skoehler] synonym: "Recurrent hiccough" EXACT [] synonym: "Recurrent hiccup" EXACT layperson [] synonym: "Recurrent synchronous diaphragmatic flutter" EXACT [] xref: MSH:D006606 xref: SNOMEDCT_US:65958008 xref: UMLS:C0019521 xref: UMLS:C0744897 is_a: HP:0002795 ! Functional respiratory abnormality created_by: doelkens creation_date: 2010-07-08T05:28:00Z [Term] id: HP:0100248 name: Hemiballismus def: "Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements." [HPO:sdoelken] comment: Hemiballismus is a very rare movement disorder. It is five hundred times rarer than Parkinson disease. Its effects can sometimes be severe enough to prevent patients from being able to perform daily functions. It is usually associated with structural brain lesions but can occur with metabolic abnormalities. The symptoms can also decrease while the patient is asleep, unlike some movement disorders. Ballism refers to very large-amplitude choreic movements of the proximal parts of the limbs, causing flinging and flailing limb movements. Ballism is most frequently unilateral, in which case it is referred to as hemiballism synonym: "Ballismus" RELATED [] xref: MSH:D020820 xref: SNOMEDCT_US:66637005 xref: UMLS:C0221169 is_a: HP:0002134 ! Abnormality of the basal ganglia is_a: HP:0004305 ! Involuntary movements created_by: doelkens creation_date: 2010-07-09T12:21:41Z [Term] id: HP:0100249 name: Calcification of muscles def: "Deposition of calcium salts in muscle tissue." [HPO:probinson] synonym: "Skeletal muscle calcinosis" EXACT [] xref: SNOMEDCT_US:446993003 xref: UMLS:C2960760 is_a: HP:0010766 ! Ectopic calcification is_a: HP:0011805 ! Abnormal muscle morphology created_by: doelkens creation_date: 2010-07-09T12:32:25Z [Term] id: HP:0100250 name: Meningeal calcification def: "Calcium deposition affecting the Meninges." [HPO:sdoelken] comment: In general, meningeal calcifications are plaque-like and bilateral as seen on CT-scans. xref: UMLS:C4022181 is_a: HP:0002514 ! Cerebral calcification is_a: HP:0010651 ! Abnormal meningeal morphology created_by: doelkens creation_date: 2010-07-14T03:41:34Z [Term] id: HP:0100251 name: Multiple central nervous system lipomas def: "The presence of mulitple lipomas located in the central nervous system." [PMID:26942290] synonym: "Lipomas of the central nervous system" EXACT [] xref: NCIT:C3192 xref: UMLS:C4022180 is_a: HP:0001012 ! Multiple lipomas is_a: HP:0100835 ! Benign neoplasm of the central nervous system created_by: doelkens creation_date: 2010-07-14T03:55:50Z [Term] id: HP:0100252 name: Diaphyseal dysplasia xref: MSH:D003966 xref: SNOMEDCT_US:318761000119105 xref: SNOMEDCT_US:34643004 xref: UMLS:C0011989 is_a: HP:0000940 ! Abnormal diaphysis morphology is_a: HP:0002652 ! Skeletal dysplasia created_by: doelkens creation_date: 2010-07-14T05:01:38Z [Term] id: HP:0100253 name: Abnormality of the medullary cavity of the long bones def: "An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored." [HPO:sdoelken] synonym: "Abnormality of the marrow cavity of the long bones" EXACT layperson [] xref: UMLS:C4021027 is_a: HP:0000940 ! Abnormal diaphysis morphology created_by: doelkens creation_date: 2010-07-14T05:09:21Z [Term] id: HP:0100254 name: Stenosis of the medullary cavity of the long bones xref: UMLS:C4022179 is_a: HP:0100253 ! Abnormality of the medullary cavity of the long bones created_by: doelkens creation_date: 2010-07-14T05:13:39Z [Term] id: HP:0100255 name: Metaphyseal dysplasia alt_id: HP:0000948 alt_id: HP:0005002 alt_id: HP:0005636 alt_id: HP:0005704 alt_id: HP:0006427 def: "The presence of dysplastic regions in metaphyseal regions." [HPO:sdoelken] xref: MSH:C536252 xref: SNOMEDCT_US:27837003 xref: UMLS:C0265294 is_a: HP:0000944 ! Abnormality of the metaphysis is_a: HP:0002652 ! Skeletal dysplasia created_by: doelkens creation_date: 2010-07-14T05:15:56Z [Term] id: HP:0100256 name: Senile plaques def: "Senile plaques are extracellular deposits of amyloid in the gray matter of the brain." [HPO:sdoelken] comment: Senile plaques can be found in human and animal brains. From an age of 60 years (10%) to an age of 80 years (60%) the proportion of people with plaques increases approximately linearly. A small number of plaques can be due to the physiological process of aging. Women are slightly more likely to have plaques than males. The plaques occur commonly in the amygdoid nucleus and the sulci of the cortex of brain. The deposits are associated with degenerative neural structures and an abundance of microglia and astrocytes. Large numbers of senile plaques and neurofibrillary tangles are characteristic features of Alzheimers disease, and some of the abnormal neurites in senile plaques are composed primarily of paired helical filaments, a component of neurofibrillary tangles. In Alzheimer's disease they are primarily composed of amyloid beta peptides. These polypeptides tend to aggregate and are believed to be neurotoxic. synonym: "Braindruse" EXACT [] synonym: "Neuritic plaques" EXACT [] synonym: "Senile druse" EXACT [] xref: MSH:D058225 xref: SNOMEDCT_US:38551001 xref: UMLS:C0333463 is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system created_by: doelkens creation_date: 2010-07-15T02:43:44Z [Term] id: HP:0100257 name: Ectrodactyly def: "A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet." [HPO:sdoelken] comment: Hands and feet in one individual might be similarly affected or very diverse and the phenotype is very variable even within families. Penetrance is reduced and some idnividuals have been observed presenting only with unilateral smaller 2nd toe which may be overlooked till a much more severly affected family member is seen. subset: hposlim_core synonym: "Cleft hand" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Lobster claw hand" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:C574275 xref: SNOMEDCT_US:13624003 xref: SNOMEDCT_US:81208006 xref: UMLS:C0265554 is_a: HP:0002813 ! Abnormality of limb bone morphology created_by: doelkens creation_date: 2010-07-15T03:56:58Z [Term] id: HP:0100258 name: Preaxial polydactyly def: "A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe." [HPO:probinson] synonym: "Polydactyly, preaxial" EXACT [HPO:skoehler] xref: SNOMEDCT_US:205135003 xref: UMLS:C0345354 is_a: HP:0010442 ! Polydactyly created_by: doelkens creation_date: 2010-07-20T11:00:32Z [Term] id: HP:0100259 name: Postaxial polydactyly alt_id: HP:0005808 def: "A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe." [HPO:probinson] synonym: "Postaxial hexadactyly" EXACT [] xref: MSH:C562429 xref: UMLS:C0220697 is_a: HP:0010442 ! Polydactyly created_by: doelkens creation_date: 2010-07-20T11:00:32Z [Term] id: HP:0100260 name: Mesoaxial polydactyly def: "The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly." [pmid:19125433] synonym: "Central polydactyly" EXACT [] synonym: "Insertional polydactyly" RELATED [] synonym: "Intercalary polydactyly" EXACT [] xref: UMLS:C1848595 xref: UMLS:C4020689 is_a: HP:0010442 ! Polydactyly created_by: doelkens creation_date: 2010-07-20T11:00:32Z [Term] id: HP:0100261 name: Abnormal tendon morphology def: "An abnormality of the structure or form of the tendons, also often called sinews." [HPO:sdoelken] comment: A tendon (or sinew) is a tough band of fibrous connective tissue that usually connects muscle to bone and is capable of withstanding tension. Tendons are similar to ligaments and fascia as they are all made of collagen except that ligaments join one bone to another bone, and fascia connect muscles to other muscles. Tendons and muscles work together and can only exert a pulling force. synonym: "Abnormal shape of tendon" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the sinew" EXACT [] xref: UMLS:C4021026 is_a: HP:0011842 ! Abnormality of skeletal morphology created_by: doelkens creation_date: 2010-07-20T01:20:19Z [Term] id: HP:0100262 name: Synostosis involving digits synonym: "Fusion involving digits" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022178 is_a: HP:0100240 ! Synostosis of joints created_by: doelkens creation_date: 2010-07-20T02:58:46Z [Term] id: HP:0100263 name: Distal symphalangism xref: MSH:C566099 xref: UMLS:C1861401 is_a: HP:0100262 ! Synostosis involving digits created_by: doelkens creation_date: 2010-07-20T03:00:19Z [Term] id: HP:0100264 name: Proximal symphalangism synonym: "Cushing's symphalangism" EXACT [ORCID:0000-0001-6908-9849] xref: MSH:C536223 xref: UMLS:C1861385 is_a: HP:0100262 ! Synostosis involving digits created_by: doelkens creation_date: 2010-07-20T03:00:19Z [Term] id: HP:0100265 name: Synostosis of metacarpals/metatarsals synonym: "Fusion of long bones of hand/long bones of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022177 is_a: HP:0100240 ! Synostosis of joints created_by: doelkens creation_date: 2010-07-20T03:02:10Z [Term] id: HP:0100266 name: Synostosis of carpals/tarsals alt_id: HP:0005666 alt_id: HP:0005675 alt_id: HP:0005823 def: "The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, navicular, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus." [HPO:sdoelken] synonym: "Carpal and tarsal fusions" EXACT [] synonym: "Coalescence of carpal and tarsal bones" EXACT [] synonym: "Fusion of carpal and tarsal bones" EXACT [] synonym: "Wrist bone/ankle bone fusions" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021025 is_a: HP:0100240 ! Synostosis of joints created_by: doelkens creation_date: 2010-07-20T03:02:14Z [Term] id: HP:0100267 name: Lip pit def: "A depression located on a lip." [HPO:probinson] subset: hposlim_core xref: UMLS:C0341059 is_a: HP:0000159 ! Abnormal lip morphology is_a: HP:0100276 ! Skin pit created_by: doelkens creation_date: 2010-07-20T04:06:32Z [Term] id: HP:0100268 name: Upper lip pit def: "Depression located on the vermilion of the upper lip, usually paramedian." [HPO:sdoelken] comment: A lip pit may be connected by a fistula to mucous minor salivary glands in the upper lip. In addition, a lip pit may on occasion be seen with a surrounding tissue elevation (mound). Pits located at the labial commisure (cheilon) are distinct from lip pits (see Commissural pit). xref: UMLS:C4022176 is_a: HP:0000177 ! Abnormality of upper lip is_a: HP:0100269 ! Paramedian lip pit created_by: doelkens creation_date: 2010-07-20T04:06:52Z [Term] id: HP:0100269 name: Paramedian lip pit def: "Depression located paramedially on the vermilion of a lip." [HPO:sdoelken] comment: A lip pit may be connected by a fistula to mucous minor salivary glands in the upper or lower lip. In addition, a lip pit may on occasion be seen with a surrounding tissue elevation (mound). Pits located at the labial commisure (cheilon) are distinct from lip pits (see Commissural pit). synonym: "Paramedian labial pits" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4022175 is_a: HP:0100267 ! Lip pit created_by: doelkens creation_date: 2010-07-20T04:13:41Z [Term] id: HP:0100270 name: Abnormality of dorsoventral patterning of the limbs def: "An abnormality resulting from a defect or disruption of dorsoventral patterning that normally happens during early development of the limbs. A disruption of the normal development of the dorsoventral axis may lead to a variable spectrum of different phenotypic abnormalities that may affect the nails and or palmar and dorsal side of the hands and/or feet, ultimately changing the normal dorsoventral appearance of the affected limbs." [HPO:sdoelken] xref: UMLS:C4022174 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0001760 ! Abnormality of the foot created_by: doelkens creation_date: 2010-07-22T05:02:27Z [Term] id: HP:0100271 name: Hyponasal speech def: "Hyponasal speech is when there is an abnormally reduced nasal airflow during speech often in a setting of nasal obstruction or congestion." [HPO:sdoelken] xref: UMLS:C4022173 is_a: HP:0001608 ! Abnormality of the voice created_by: doelkens creation_date: 2010-07-27T09:57:48Z [Term] id: HP:0100272 name: Branchial sinus def: "A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal." [HPO:sdoelken] comment: Branchial sinuses have to be distinguished from the preauricular cysts and sinuses, which are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral, and are localized anterior to the tragus of the ear. xref: SNOMEDCT_US:253259008 xref: UMLS:C0266624 is_a: HP:0009794 ! Branchial anomaly created_by: doelkens creation_date: 2010-07-27T10:10:03Z [Term] id: HP:0100273 name: Neoplasm of the colon synonym: "Colon tumor" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D003110 xref: NCIT:C3262 xref: SNOMEDCT_US:126838000 xref: UMLS:C0009375 is_a: HP:0100834 ! Neoplasm of the large intestine created_by: doelkens creation_date: 2010-07-28T05:37:31Z [Term] id: HP:0100274 name: Gustatory lacrimation def: "Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal." [HPO:sdoelken] comment: The aberrant innervation leading to this phenomenon may be seen for example as a hereditary trait in some patients with Branchio-oto-renal (BOR) syndrome in which case it may occur unilateral or bilateral, but it may also result from a secondary aberrant reinnervation following a peripheral facial palsy, in which case it is associated with uncontrollable ipsilateral tearing. In the past gustatory lacrimation was considered to be a very rare non-hereditary type of anomalous, cranial nerve-end organ innervation but rare occurences in patients with Branchio-oto-renal (BOR) syndrome have shown, that this feature may also appear as a hereditary condition. xref: UMLS:C1862052 is_a: HP:0000632 ! Lacrimation abnormality is_a: HP:0031910 ! Abnormal cranial nerve physiology created_by: doelkens creation_date: 2010-07-29T11:59:06Z [Term] id: HP:0100275 name: Diffuse cerebellar atrophy alt_id: HP:0006928 def: "Diffuse unlocalised atrophy affecting the cerebellum." [HPO:sdoelken] xref: UMLS:C1854699 is_a: HP:0001272 ! Cerebellar atrophy created_by: doelkens creation_date: 2010-08-02T01:22:19Z [Term] id: HP:0100276 name: Skin pit def: "A small, skin-lined tract that leads from the surface to deep within the tissues." [] synonym: "Skin pit" EXACT layperson [] synonym: "Skin pits" RELATED layperson [] xref: UMLS:C4020712 xref: UMLS:C4022172 is_a: HP:0011355 ! Localized skin lesion created_by: doelkens creation_date: 2010-08-05T10:51:32Z [Term] id: HP:0100277 name: Periauricular skin pits def: "Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit." [HPO:sdoelken] synonym: "Periauricular earpits" EXACT [ORCID:0000-0001-5889-4463] synonym: "Periauricular fistulas" EXACT [ORCID:0000-0001-5889-4463] synonym: "Periauricular pits" EXACT [ORCID:0000-0001-5889-4463] synonym: "Periauricular sinus" EXACT [ORCID:0000-0001-5889-4463] synonym: "Pits around the ear" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4022171 is_a: HP:0000383 ! Abnormality of periauricular region is_a: HP:0100276 ! Skin pit created_by: doelkens creation_date: 2010-08-05T10:54:32Z [Term] id: HP:0100279 name: Ulcerative colitis def: "A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon." [HPO:sdoelken] synonym: "Colitis ulcerosa" EXACT [] xref: MSH:D003093 xref: SNOMEDCT_US:64766004 xref: UMLS:C0009324 is_a: HP:0100281 ! Chronic colitis created_by: doelkens creation_date: 2010-08-10T09:25:44Z [Term] id: HP:0100280 name: Crohn's disease def: "A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation." [HPO:sdoelken] synonym: "Granulomatous enteritis and colitis" EXACT [] synonym: "Morbus Crohn" EXACT [] xref: MSH:D003424 xref: SNOMEDCT_US:34000006 xref: UMLS:C0010346 is_a: HP:0004386 ! Gastrointestinal inflammation created_by: doelkens creation_date: 2010-08-10T09:26:05Z [Term] id: HP:0100281 name: Chronic colitis def: "A chronic inflammatory disease of the large intestine (colon, cecum and rectum)." [HPO:sdoelken] xref: SNOMEDCT_US:54597004 xref: UMLS:C0267375 is_a: HP:0002583 ! Colitis created_by: doelkens creation_date: 2010-08-10T09:26:33Z [Term] id: HP:0100282 name: Acute colitis def: "An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum)." [HPO:sdoelken] xref: UMLS:C2118460 is_a: HP:0002583 ! Colitis created_by: doelkens creation_date: 2010-08-10T09:26:33Z [Term] id: HP:0100283 name: EMG: continuous motor unit activity at rest def: "Continuous electromyographic activity of motor units at rest, i.e., without voluntary movement of the muscles." [HPO:probinson] comment: The motor unit contains an anterior horn cell, its axon, and all of the muscle fibers that it innervates via the neuromuscular junction. Note that a healthy relaxed muscle does not show significant EMG activity at rest. xref: UMLS:C4022170 is_a: HP:0003457 ! EMG abnormality created_by: doelkens creation_date: 2010-08-10T12:59:19Z [Term] id: HP:0100284 name: EMG: myotonic discharges def: "High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound." [HPO:probinson] xref: UMLS:C4022169 is_a: HP:0003457 ! EMG abnormality created_by: doelkens creation_date: 2010-08-10T01:02:13Z [Term] id: HP:0100285 name: EMG: impaired neuromuscular transmission def: "An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP)." [HPO:probinson] xref: UMLS:C4022168 is_a: HP:0003457 ! EMG abnormality created_by: doelkens creation_date: 2010-08-10T01:02:59Z [Term] id: HP:0100287 name: EMG: slow motor conduction def: "The presence of reduced conduction velocity of motor nerves on electromyography." [HPO:probinson] xref: UMLS:C4022167 is_a: HP:0003457 ! EMG abnormality created_by: doelkens creation_date: 2010-08-10T01:11:48Z [Term] id: HP:0100288 name: EMG: myokymic discharges def: "The presence of spontaneous bursts of rapidly firing potentials that recur at regular intervals of 2-10 per second and are unaffected by voluntary effort. This is an electromyographic (EMG) finding." [HPO:probinson] xref: UMLS:C4022166 is_a: HP:0002411 ! Myokymia is_a: HP:0003457 ! EMG abnormality created_by: doelkens creation_date: 2010-08-10T01:12:27Z [Term] id: HP:0100289 name: Abnormality of pattern reversal visual evoked potentials synonym: "Abnormality of pattern reversal VEP" EXACT [] xref: UMLS:C4022165 is_a: HP:0030455 ! Abnormality of pattern visual evoked potentials created_by: doelkens creation_date: 2010-08-10T01:20:56Z [Term] id: HP:0100290 name: Abnormality of peripheral somatosensory evoked potentials xref: UMLS:C4022164 is_a: HP:0007377 ! Abnormality of somatosensory evoked potentials created_by: doelkens creation_date: 2010-08-10T01:31:37Z [Term] id: HP:0100291 name: Abnormality of central somatosensory evoked potentials xref: UMLS:C4022163 is_a: HP:0007377 ! Abnormality of somatosensory evoked potentials created_by: doelkens creation_date: 2010-08-10T01:31:37Z [Term] id: HP:0100292 name: Amyloidosis of peripheral nerves def: "The presence of amyloid deposition in the nerves of the peripheral nervous system." [HPO:probinson] xref: UMLS:C4022162 is_a: HP:0011034 ! Amyloidosis is_a: HP:0045010 ! Abnormality of peripheral nerves created_by: doelkens creation_date: 2010-08-10T01:46:51Z [Term] id: HP:0100293 name: Muscle fiber hypertrophy synonym: "Muscle fibre hypertrophy" EXACT [] xref: SNOMEDCT_US:42091004 xref: UMLS:C0333759 is_a: HP:0004303 ! Abnormal muscle fiber morphology created_by: doelkens creation_date: 2010-08-10T01:57:00Z [Term] id: HP:0100295 name: Muscle fiber atrophy alt_id: HP:0100294 synonym: "Muscle fiber degeneration" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Muscle fibre atrophy" EXACT [] xref: SNOMEDCT_US:67867005 xref: UMLS:C0333751 is_a: HP:0004303 ! Abnormal muscle fiber morphology created_by: doelkens creation_date: 2010-08-10T01:58:24Z [Term] id: HP:0100296 name: Perifascicular muscle fiber atrophy xref: SNOMEDCT_US:87196003 xref: UMLS:C0333757 is_a: HP:0004303 ! Abnormal muscle fiber morphology created_by: doelkens creation_date: 2010-08-10T01:59:54Z [Term] id: HP:0100297 name: Increased endomysial connective tissue xref: UMLS:C4022161 is_a: HP:0004303 ! Abnormal muscle fiber morphology created_by: doelkens creation_date: 2010-08-10T02:06:32Z [Term] id: HP:0100298 name: Motheaten muscle fibers xref: UMLS:C4022160 is_a: HP:0004303 ! Abnormal muscle fiber morphology created_by: doelkens creation_date: 2010-08-10T02:19:26Z [Term] id: HP:0100299 name: Muscle fiber inclusion bodies comment: This should have logical def changed to reference a generic muscle fiber but this is not yet in CL. xref: UMLS:C4022159 is_a: HP:0004303 ! Abnormal muscle fiber morphology created_by: doelkens creation_date: 2010-08-10T02:21:34Z [Term] id: HP:0100300 name: Desmin bodies xref: UMLS:C4022158 is_a: HP:0100303 ! Muscle fiber cytoplasmatic inclusion bodies created_by: doelkens creation_date: 2010-08-10T02:28:49Z [Term] id: HP:0100301 name: Muscle fiber tubular inclusions def: "Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities." [HPO:sdoelken, PMID:15113116] synonym: "Muscle fiber tubular aggregates" EXACT [] xref: UMLS:C4021024 is_a: HP:0100303 ! Muscle fiber cytoplasmatic inclusion bodies created_by: doelkens creation_date: 2010-08-10T02:31:27Z [Term] id: HP:0100302 name: Muscle fiber tubuloreticular inclusions synonym: "Muscle fiber tubuloreticular aggregates" EXACT [] xref: UMLS:C4021023 is_a: HP:0100303 ! Muscle fiber cytoplasmatic inclusion bodies created_by: doelkens creation_date: 2010-08-10T02:36:48Z [Term] id: HP:0100303 name: Muscle fiber cytoplasmatic inclusion bodies alt_id: HP:0003790 def: "The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins." [HPO:probinson] synonym: "Muscle fiber cytoplasmic bodies" EXACT [http://neuromuscular.wustl.edu/pathol/cytobod.htm] xref: UMLS:C4022157 is_a: HP:0100299 ! Muscle fiber inclusion bodies created_by: doelkens creation_date: 2010-08-10T02:39:22Z [Term] id: HP:0100304 name: Muscle fiber intranuclear inclusion bodies def: "The presence of inclusion bodies within the nucleus of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins." [HPO:probinson] xref: UMLS:C4022156 is_a: HP:0100299 ! Muscle fiber inclusion bodies created_by: doelkens creation_date: 2010-08-10T02:39:22Z [Term] id: HP:0100305 name: Ring fibers def: "Ring fibers are formed by a bundle of peripheral myofibrils which are circumferentially oriented such that they encircle the internal portion of the sarcoplasm which is normal in structure and orientation." [HPO:sdoelken] xref: SNOMEDCT_US:47913008 xref: UMLS:C0333770 is_a: HP:0004303 ! Abnormal muscle fiber morphology created_by: doelkens creation_date: 2010-08-10T02:41:11Z [Term] id: HP:0100306 name: Muscle fiber hyaline bodies xref: UMLS:C4022155 is_a: HP:0100303 ! Muscle fiber cytoplasmatic inclusion bodies created_by: doelkens creation_date: 2010-08-10T02:49:13Z [Term] id: HP:0100307 name: Cerebellar hemisphere hypoplasia xref: UMLS:C4022154 is_a: HP:0001321 ! Cerebellar hypoplasia created_by: doelkens creation_date: 2010-08-10T02:51:21Z [Term] id: HP:0100308 name: Cerebral cortical hemiatrophy def: "Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle." [HPO:probinson] xref: UMLS:C4022153 is_a: HP:0002120 ! Cerebral cortical atrophy created_by: doelkens creation_date: 2010-08-10T02:52:37Z [Term] id: HP:0100309 name: Subdural hemorrhage def: "Hemorrhage occurring between the dura mater and the arachnoid mater." [HPO:sdoelken] comment: Usually resulting from tears in veins that cross the subdural space, subdural hemorrhage may cause an increase in intracranial pressure, which can cause compression of and damage to delicate brain tissue. Subdural hematomas are often life-threatening when acute, but chronic subdural hematomas are usually not deadly if treated. synonym: "Subdural haematoma" EXACT [] xref: MSH:D006408 xref: SNOMEDCT_US:35486000 xref: SNOMEDCT_US:95453001 xref: UMLS:C0018946 is_a: HP:0002170 ! Intracranial hemorrhage created_by: doelkens creation_date: 2010-08-10T03:01:08Z [Term] id: HP:0100310 name: Epidural hemorrhage def: "Hemorrhage occurring between the dura mater and the skull." [HPO:sdoelken] comment: Intracranial bleeding occuring between the dura mater (the tough outer membrane of the central nervous system) and the skull. The dura mater also covers the spine, so epidural bleeds may also occur in the spinal column. synonym: "Epidural haematoma" EXACT [] synonym: "Epidural hematoma" EXACT [] synonym: "Extradural haematoma" EXACT [] synonym: "Extradural hematoma" EXACT [] xref: MSH:D006407 xref: SNOMEDCT_US:428268007 xref: SNOMEDCT_US:82999001 xref: UMLS:C0238154 is_a: HP:0002170 ! Intracranial hemorrhage created_by: doelkens creation_date: 2010-08-10T03:05:35Z [Term] id: HP:0100311 name: Cerebral ventricular adhesions xref: UMLS:C4022152 is_a: HP:0002118 ! Abnormality of the cerebral ventricles created_by: doelkens creation_date: 2010-08-10T03:10:06Z [Term] id: HP:0100312 name: Cerebral germinoma def: "The presence of a germ cell tumor of the cerebrum." [HPO:probinson] xref: NCIT:C3708 xref: UMLS:C4022151 is_a: HP:0100620 ! Germinoma is_a: HP:0100835 ! Benign neoplasm of the central nervous system is_a: HP:0100836 ! Malignant neoplasm of the central nervous system created_by: doelkens creation_date: 2010-08-10T03:17:16Z [Term] id: HP:0100313 name: Cerebral granulomatosis def: "Cerebral inflammation involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells." [HPO:probinson, PMID:937513] comment: A granuloma is a compact (organized) collection of mature mononuclear phagocytes (macrophages and/or epithelioid cells) which may or may not be accompanied by accessory features such as necrosis or the infiltration of other inflammatory leukocytes (Adams DO. The granulomatous inflammatory response. Am J Pathol 1976:84:163-192). xref: UMLS:C4022150 is_a: HP:0002060 ! Abnormality of the cerebrum is_a: HP:0002955 ! Granulomatosis created_by: doelkens creation_date: 2010-08-10T03:19:05Z [Term] id: HP:0100314 name: Cerebral inclusion bodies def: "Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain." [HPO:probinson] comment: Inclusion bodies are usually derived from proteins. xref: UMLS:C4022149 is_a: HP:0002060 ! Abnormality of the cerebrum created_by: doelkens creation_date: 2010-08-10T03:31:18Z [Term] id: HP:0100315 name: Lewy bodies synonym: "Lewy body disease" RELATED [] xref: MSH:D016631 xref: MSH:D020961 xref: SNOMEDCT_US:312991009 xref: SNOMEDCT_US:43127003 xref: SNOMEDCT_US:80098002 xref: UMLS:C0085200 xref: UMLS:C0752347 is_a: HP:0100314 ! Cerebral inclusion bodies created_by: doelkens creation_date: 2010-08-10T03:32:14Z [Term] id: HP:0100316 name: Hirano bodies def: "Intracellular aggregates of actin and actin-associated proteins within nerve cells." [HPO:probinson] xref: SNOMEDCT_US:57458003 xref: UMLS:C0521178 is_a: HP:0100314 ! Cerebral inclusion bodies created_by: doelkens creation_date: 2010-08-10T03:32:38Z [Term] id: HP:0100317 name: Argyrophilic inclusion bodies def: "Presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue." [HPO:sdoelken] synonym: "Agyrophilic inclusion bodies" EXACT [] synonym: "Pick inclusion bodies" EXACT [] xref: UMLS:C4021022 is_a: HP:0100314 ! Cerebral inclusion bodies created_by: doelkens creation_date: 2010-08-10T03:35:26Z [Term] id: HP:0100318 name: Lafora bodies def: "An intraneuronal inclusion body composed of acid mucopolysaccharides." [HPO:sdoelken] xref: SNOMEDCT_US:87554006 xref: UMLS:C0333749 is_a: HP:0100314 ! Cerebral inclusion bodies created_by: doelkens creation_date: 2010-08-10T03:37:06Z [Term] id: HP:0100319 name: Cerebral hyaline bodies def: "Cerebral eosinophilic, discrete, intracytoplasmatic inclusions of unknown significance." [HPO:sdoelken] synonym: "Cerebral colloid bodies" EXACT [] xref: UMLS:C4021021 is_a: HP:0100314 ! Cerebral inclusion bodies created_by: doelkens creation_date: 2010-08-10T03:39:19Z [Term] id: HP:0100320 name: Rosenthal fibres def: "Thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on H&E staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders." [HPO:sdoelken] xref: SNOMEDCT_US:84605001 xref: UMLS:C0333731 is_a: HP:0100314 ! Cerebral inclusion bodies created_by: doelkens creation_date: 2010-08-10T03:46:31Z [Term] id: HP:0100321 name: Abnormality of the dentate nucleus def: "An abnormality of the dentate nucleus." [HPO:probinson] xref: UMLS:C4022148 is_a: HP:0001317 ! Abnormal cerebellum morphology created_by: doelkens creation_date: 2010-08-10T03:56:48Z [Term] id: HP:0100322 name: Aplasia of the pyramidal tract synonym: "Absent pyramidal tract" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4022147 is_a: HP:0007363 ! Aplasia/Hypoplasia of the pyramidal tract created_by: doelkens creation_date: 2010-08-10T04:00:24Z [Term] id: HP:0100323 name: Juvenile aseptic necrosis def: "Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers." [HPO:sdoelken] comment: Causes may be rapid growth, heredity, trauma or overuse and anatomic conformation. synonym: "Aseptic epiphyseal necrosis" RELATED [] xref: UMLS:C4020710 xref: UMLS:C4022146 is_a: HP:0010885 ! Avascular necrosis created_by: doelkens creation_date: 2010-08-10T04:02:42Z [Term] id: HP:0100324 name: Scleroderma alt_id: HP:0001594 alt_id: HP:0007426 def: "A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin." [HPO:sdoelken] comment: A chronic autoimmune disease characterized by fibrosis (or hardening), vascular alterations, and autoantibodies. Sclerosis of the skin occurs in association with disorders as diverse as dermatomyositis, Werner's syndrome, porphyria, muscle glycogenesis, primary systemic amyloidosis, melorheostosis, and malignancy including the carcinoid syndrome. This term is intended to represent the phenotypic feature scleroderma rather than a particular disease. synonym: "Progressive systemic scleroderma" EXACT [] synonym: "Pseudoscleroderma" EXACT [] xref: MSH:D012594 xref: SNOMEDCT_US:403524003 xref: SNOMEDCT_US:89155008 xref: UMLS:C0011644 xref: UMLS:C1274865 is_a: HP:0001072 ! Thickened skin created_by: doelkens creation_date: 2010-08-10T04:14:42Z [Term] id: HP:0100326 name: Immunologic hypersensitivity def: "Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens." [https://www.st-andrews.ac.uk/~gdk/bl4217web/Gp3%20Ref%20list/hypersensitivity%20printed.pdf] xref: UMLS:C0237653 is_a: HP:0010978 ! Abnormality of immune system physiology created_by: doelkens creation_date: 2010-09-16T06:00:43Z [Term] id: HP:0100327 name: Cow milk allergy def: "Hypersensitivity in form of an adverse immune reaction against cow milk protein." [HPO:sdoelken] synonym: "Cow milk allergy" EXACT layperson [] synonym: "IgE-mediated cow milk allergy" EXACT [] synonym: "Immunoglobulin E-mediated cow milk allergy" EXACT [] synonym: "Milk allergy" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:15911003 xref: UMLS:C0266815 is_a: HP:0410327 ! Dairy allergy created_by: doelkens creation_date: 2010-09-16T06:03:58Z [Term] id: HP:0100328 name: Carpometacarpal synostosis def: "Fusion involving carpal and metacarpal bones." [HPO:probinson] synonym: "Fused wrist bones and long bones of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022145 is_a: HP:0009701 ! Metacarpal synostosis is_a: HP:0009702 ! Carpal synostosis created_by: doelkens creation_date: 2010-10-08T03:52:00Z [Term] id: HP:0100329 name: Tarsometatarsal synostosis synonym: "Fused bones of the midfoot" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4022144 is_a: HP:0001440 ! Metatarsal synostosis is_a: HP:0008368 ! Tarsal synostosis created_by: doelkens creation_date: 2010-10-08T03:53:06Z [Term] id: HP:0100333 name: Unilateral cleft lip alt_id: HP:0100331 def: "A non-midline cleft of the upper lip on one side only." [HPO:probinson] synonym: "One sided cleft upper lip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Unilateral cheiloschisis" EXACT [ORCID:0000-0001-5889-4463] synonym: "Unilateral cleft upper lip" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:304067009 xref: UMLS:C0392006 is_a: HP:0100335 ! Non-midline cleft lip created_by: doelkens creation_date: 2010-10-13T04:11:32Z [Term] id: HP:0100334 name: Unilateral cleft palate synonym: "One sided cleft palate" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Unilateral palatoschisis" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4022143 is_a: HP:0100338 ! Non-midline cleft palate created_by: doelkens creation_date: 2010-10-13T04:16:12Z [Term] id: HP:0100335 name: Non-midline cleft lip alt_id: HP:0010283 alt_id: HP:0100332 def: "Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region." [HPO:probinson] synonym: "Non-midline cleft of the upper lip" EXACT [] synonym: "Paramedian cleft of the upper lip" EXACT [] xref: UMLS:C4021020 is_a: HP:0000204 ! Cleft upper lip created_by: doelkens creation_date: 2010-10-13T04:12:24Z [Term] id: HP:0100336 name: Bilateral cleft lip def: "A non-midline cleft of the upper lip on the left and right sides." [HPO:probinson] subset: hposlim_core synonym: "Bilateral cheiloschisis" EXACT [ORCID:0000-0001-5889-4463] synonym: "Both sided cleft lip" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Right and left cleft lip" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:304068004 xref: UMLS:C0392005 is_a: HP:0100335 ! Non-midline cleft lip created_by: doelkens creation_date: 2010-10-13T04:13:10Z [Term] id: HP:0100337 name: Bilateral cleft palate def: "Nonmidline cleft palate on the left and right sides." [HPO:probinson] subset: hposlim_core synonym: "Bilateral palatoschisis" EXACT [ORCID:0000-0001-5889-4463] synonym: "Right and left cleft palate" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C3553084 is_a: HP:0100338 ! Non-midline cleft palate created_by: doelkens creation_date: 2010-10-13T04:16:32Z [Term] id: HP:0100338 name: Non-midline cleft palate synonym: "Paramedian cleft palate" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4022142 is_a: HP:0000175 ! Cleft palate created_by: doelkens creation_date: 2010-10-13T04:16:40Z [Term] id: HP:0100339 name: Abnormality of the os naviculare pedis xref: UMLS:C4022141 is_a: HP:0001850 ! Abnormality of the tarsal bones created_by: doelkens creation_date: 2010-10-13T04:46:42Z [Term] id: HP:0100340 name: Fibular deviation of the 4th toe xref: UMLS:C4022140 is_a: HP:0010338 ! Deviation of the 4th toe created_by: doelkens creation_date: 2010-11-11T03:41:54Z [Term] id: HP:0100341 name: Tibial deviation of the 4th toe xref: UMLS:C4022139 is_a: HP:0010338 ! Deviation of the 4th toe created_by: doelkens creation_date: 2010-11-11T03:41:54Z [Term] id: HP:0100342 name: Fibular deviation of the 3rd toe xref: UMLS:C4022138 is_a: HP:0010332 ! Deviation of the 3rd toe created_by: doelkens creation_date: 2010-11-11T03:43:52Z [Term] id: HP:0100343 name: Tibial deviation of the 3rd toe xref: UMLS:C4022137 is_a: HP:0010332 ! Deviation of the 3rd toe created_by: doelkens creation_date: 2010-11-11T03:43:52Z [Term] id: HP:0100344 name: Fibular deviation of the 2nd toe xref: UMLS:C4022136 is_a: HP:0010326 ! Deviation of the 2nd toe created_by: doelkens creation_date: 2010-11-11T03:44:07Z [Term] id: HP:0100345 name: Tibial deviation of the 2nd toe xref: UMLS:C4022135 is_a: HP:0010326 ! Deviation of the 2nd toe created_by: doelkens creation_date: 2010-11-11T03:44:07Z [Term] id: HP:0100346 name: Fibular deviation of the 5th toe xref: UMLS:C4022134 is_a: HP:0010344 ! Deviation of the 5th toe created_by: doelkens creation_date: 2010-11-11T03:44:27Z [Term] id: HP:0100347 name: Tibial deviation of the 5th toe xref: UMLS:C4022133 is_a: HP:0010344 ! Deviation of the 5th toe created_by: doelkens creation_date: 2010-11-11T03:44:27Z [Term] id: HP:0100348 name: Contracture of the proximal interphalangeal joint of the 2nd toe def: "The proximal interphalangeal joint of the 2nd toe cannot be straightened actively or passively." [HPO:probinson] synonym: "Camptodactyly of the 2nd toe" EXACT [] synonym: "Camptodactyly of the second toe" EXACT [] xref: UMLS:C4021019 is_a: HP:0001836 ! Camptodactyly of toe is_a: HP:0010327 ! Flexion contracture of the 2nd toe [Term] id: HP:0100349 name: Contracture of the proximal interphalangeal joint of the 3rd toe def: "The proximal interphalangeal joint of the 3rd toe cannot be straightened actively or passively." [UToronto:htrang] synonym: "Camptodactyly of the 3rd toe" EXACT [] xref: UMLS:C4021018 is_a: HP:0001836 ! Camptodactyly of toe is_a: HP:0010333 ! Flexion contracture of 3rd toe [Term] id: HP:0100350 name: Contracture of the proximal interphalangeal joint of the 4th toe def: "The proximal interphalangeal joint of the 4th toe cannot be straightened actively or passively." [HPO:probinson] synonym: "Camptodactyly of the 4th toe" EXACT [] synonym: "Camptodactyly of the fourth toe" EXACT [] synonym: "Contracture of the innermost hinge joint of the 4th toe" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4021017 is_a: HP:0001836 ! Camptodactyly of toe is_a: HP:0010339 ! Flexion contracture of the 4th toe [Term] id: HP:0100351 name: Contractures of the proximal interphalangeal joint of the 5th toe def: "The proximal interphalangeal joint of the fifth toe cannot be straightened actively or passively." [HPO:probinson] synonym: "Camptodactyly of the 5th toe" EXACT [] synonym: "Camptodactyly of the fifth toe" EXACT [] xref: UMLS:C4021016 is_a: HP:0001836 ! Camptodactyly of toe is_a: HP:0010345 ! Flexion contracture of the 5th toe [Term] id: HP:0100352 name: Contracture of the distal interphalangeal joint of the 2nd toe def: "The distal interphalangeal joint of the 2nd toe cannot be straightened actively or passively." [HPO:probinson] synonym: "Contracture of the distal interphalangeal joint of the second toe" EXACT [] xref: UMLS:C4021015 is_a: HP:0010327 ! Flexion contracture of the 2nd toe [Term] id: HP:0100353 name: Contracture of the distal interphalangeal joint of the 3rd toe def: "The distal interphalangeal joint of the 3rd toe cannot be straightened actively or passively." [HPO:probinson] xref: UMLS:C4022132 is_a: HP:0010333 ! Flexion contracture of 3rd toe [Term] id: HP:0100354 name: Contracture of the distal interphalangeal joint of the 4th toe def: "The distal interphalangeal joint of the 4th toe cannot be straightened actively or passively." [HPO:probinson] xref: UMLS:C4022131 is_a: HP:0010339 ! Flexion contracture of the 4th toe [Term] id: HP:0100355 name: Contractures of the distal interphalangeal joint of the 5th toe def: "The distal interphalangeal joint of the 5th toe cannot be straightened actively or passively." [HPO:probinson] synonym: "Contracture of the outermost hinge joint of the 5th toe" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4022130 is_a: HP:0010345 ! Flexion contracture of the 5th toe [Term] id: HP:0100356 name: Contracture of the metatarsophalangeal joint of the 2nd toe def: "The joint between the second metatarsal and the proximal phalanx of the 2nd toe cannot be straightened actively or passively." [HPO:probinson] xref: UMLS:C4022129 is_a: HP:0010327 ! Flexion contracture of the 2nd toe [Term] id: HP:0100357 name: Contracture of the metatarsophalangeal joint of the 3rd toe def: "The joint between the second metatarsal and the proximal phalanx of the 3rd toe cannot be straightened actively or passively." [HPO:probinson] xref: UMLS:C4022128 is_a: HP:0010333 ! Flexion contracture of 3rd toe [Term] id: HP:0100358 name: Contracture of the metatarsophalangeal joint of the 4th toe def: "The joint between the second metatarsal and the proximal phalanx of the 4th toe cannot be straightened actively or passively." [HPO:probinson] xref: UMLS:C4022127 is_a: HP:0010339 ! Flexion contracture of the 4th toe [Term] id: HP:0100359 name: Contracture of the metatarsophalangeal joint of the 5th toe def: "The joint between the second metatarsal and the proximal phalanx of the 5th toe cannot be straightened actively or passively." [HPO:probinson] xref: UMLS:C4022126 is_a: HP:0010345 ! Flexion contracture of the 5th toe [Term] id: HP:0100360 name: Contractures of the joints of the upper limbs xref: UMLS:C2750635 is_a: HP:0003121 ! Limb joint contracture created_by: doelkens creation_date: 2010-11-11T04:18:29Z [Term] id: HP:0100362 name: Aplasia of the phalanges of the 3rd toe synonym: "Absent digital bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022125 is_a: HP:0010331 ! Aplasia/Hypoplasia of the 3rd toe is_a: HP:0010359 ! Aplasia/Hypoplasia of the phalanges of the 3rd toe is_a: HP:0010745 ! Aplasia of the phalanges of the toes [Term] id: HP:0100363 name: Aplasia of the phalanges of the 4th toe synonym: "Absent bones of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022124 is_a: HP:0010337 ! Aplasia/Hypoplasia of the 4th toe is_a: HP:0010371 ! Aplasia/Hypoplasia of the phalanges of the 4th toe is_a: HP:0010745 ! Aplasia of the phalanges of the toes [Term] id: HP:0100364 name: Aplasia of the phalanges of the 5th toe synonym: "Absent little toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent pinkie toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent pinky toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022123 is_a: HP:0010343 ! Aplasia/Hypoplasia of the 5th toe is_a: HP:0010383 ! Aplasia/Hypoplasia of the phalanges of the 5th toe is_a: HP:0010745 ! Aplasia of the phalanges of the toes [Term] id: HP:0100366 name: Short phalanx of the 3rd toe def: "Developmental hypoplasia of the phalanx of third toe." [HPO:sdoelken] synonym: "Hypoplastic/small phalanges of the 3rd toe" EXACT [] synonym: "Short 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short phalanx of the third toe" EXACT [] xref: UMLS:C4021014 is_a: HP:0010331 ! Aplasia/Hypoplasia of the 3rd toe is_a: HP:0010359 ! Aplasia/Hypoplasia of the phalanges of the 3rd toe is_a: HP:0010746 ! Hypoplasia of the phalanges of the toes [Term] id: HP:0100367 name: Short phalanx of the 4th toe def: "Developmental hypoplasia of one or more phalanx of fourth toe." [HPO:probinson] synonym: "Hypoplastic/small phalanges of the 4th toe" EXACT [] synonym: "Short 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short phalanx of the fourth toe" EXACT [] xref: UMLS:C4021013 is_a: HP:0010337 ! Aplasia/Hypoplasia of the 4th toe is_a: HP:0010371 ! Aplasia/Hypoplasia of the phalanges of the 4th toe is_a: HP:0010746 ! Hypoplasia of the phalanges of the toes [Term] id: HP:0100368 is_anonymous: true name: Short phalanx of the 5th toe def: "Developmental hypoplasia of one or more phalanx of little toe." [HPO:probinson] synonym: "Hypoplastic/small phalanges of the 5th toe" EXACT [] synonym: "Short little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short phalanx of the fifth toe" EXACT [] synonym: "Short pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021012 is_a: HP:0010343 ! Aplasia/Hypoplasia of the 5th toe is_a: HP:0010383 ! Aplasia/Hypoplasia of the phalanges of the 5th toe is_a: HP:0010746 ! Hypoplasia of the phalanges of the toes [Term] id: HP:0100369 name: Aplasia/Hypoplasia of the distal phalanx of the 3rd toe synonym: "Absent/small outermost 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped outermost 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022122 is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes is_a: HP:0010331 ! Aplasia/Hypoplasia of the 3rd toe is_a: HP:0010359 ! Aplasia/Hypoplasia of the phalanges of the 3rd toe is_a: HP:0010368 ! Abnormality of the distal phalanx of the 3rd toe [Term] id: HP:0100370 name: Aplasia/Hypoplasia of the distal phalanx of the 4th toe synonym: "Absent/small outermost bone of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped outermost bone of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022121 is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes is_a: HP:0010337 ! Aplasia/Hypoplasia of the 4th toe is_a: HP:0010371 ! Aplasia/Hypoplasia of the phalanges of the 4th toe is_a: HP:0010380 ! Abnormality of the distal phalanx of the 4th toe [Term] id: HP:0100371 name: Aplasia/Hypoplasia of the distal phalanx of the 5th toe synonym: "Absent/small outermost little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/small outermost pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/small outermost pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped outermost pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022120 is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes is_a: HP:0010343 ! Aplasia/Hypoplasia of the 5th toe is_a: HP:0010383 ! Aplasia/Hypoplasia of the phalanges of the 5th toe is_a: HP:0010392 ! Abnormality of the distal phalanx of the 5th toe [Term] id: HP:0100372 name: Aplasia/Hypoplasia of the middle phalanx of the 3rd toe synonym: "Absent/small middle 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped middle 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022119 is_a: HP:0010194 ! Aplasia/Hypoplasia of the middle phalanges of the toes is_a: HP:0010331 ! Aplasia/Hypoplasia of the 3rd toe is_a: HP:0010359 ! Aplasia/Hypoplasia of the phalanges of the 3rd toe is_a: HP:0010369 ! Abnormality of the middle phalanx of the 3rd toe [Term] id: HP:0100373 name: Aplasia/Hypoplasia of the middle phalanx of the 4th toe synonym: "Absent/small middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022118 is_a: HP:0010194 ! Aplasia/Hypoplasia of the middle phalanges of the toes is_a: HP:0010337 ! Aplasia/Hypoplasia of the 4th toe is_a: HP:0010371 ! Aplasia/Hypoplasia of the phalanges of the 4th toe is_a: HP:0010381 ! Abnormality of the middle phalanx of the 4th toe [Term] id: HP:0100374 name: Aplasia/Hypoplasia of the middle phalanx of the 5th toe synonym: "Absent/small middle 5th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped middle bone of little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped middle bone of pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped middle bone of pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022117 is_a: HP:0010194 ! Aplasia/Hypoplasia of the middle phalanges of the toes is_a: HP:0010343 ! Aplasia/Hypoplasia of the 5th toe is_a: HP:0010383 ! Aplasia/Hypoplasia of the phalanges of the 5th toe is_a: HP:0010393 ! Abnormality of the middle phalanx of the 5th toe [Term] id: HP:0100375 name: Aplasia/hypoplasia of the proximal phalanx of the 3rd toe def: "Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 3rd toe." [HPO:probinson] synonym: "Absent/small innermost bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped innermost bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022116 is_a: HP:0010203 ! Aplasia/hypoplasia of proximal toe phalanx is_a: HP:0010331 ! Aplasia/Hypoplasia of the 3rd toe is_a: HP:0010359 ! Aplasia/Hypoplasia of the phalanges of the 3rd toe is_a: HP:0010370 ! Abnormality of the proximal phalanx of the 3rd toe [Term] id: HP:0100376 name: Aplasia/hypoplasia of the proximal phalanx of the 4th toe def: "Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 4th toe." [HPO:probinson] synonym: "Absent/small innermost 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped innermost 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022115 is_a: HP:0010203 ! Aplasia/hypoplasia of proximal toe phalanx is_a: HP:0010337 ! Aplasia/Hypoplasia of the 4th toe is_a: HP:0010371 ! Aplasia/Hypoplasia of the phalanges of the 4th toe is_a: HP:0010382 ! Abnormality of the proximal phalanx of the 4th toe [Term] id: HP:0100377 name: Aplasia/hypoplasia of the proximal phalanx of the 5th toe def: "Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 5th toe." [HPO:probinson] synonym: "Absent/small innermost little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/small innermost pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/small innermost pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped innermost 5th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022114 is_a: HP:0010203 ! Aplasia/hypoplasia of proximal toe phalanx is_a: HP:0010343 ! Aplasia/Hypoplasia of the 5th toe is_a: HP:0010383 ! Aplasia/Hypoplasia of the phalanges of the 5th toe is_a: HP:0010394 ! Abnormality of the proximal phalanx of the 5th toe [Term] id: HP:0100378 name: Absent distal phalanx of the 3rd toe def: "Developmental aplasia of the distal phalanx of third toe." [HPO:sdoelken] synonym: "Absent distal phalanx of the third toe" EXACT [] synonym: "Absent outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Aplasia of the distal phalanx of the 3rd toe" EXACT [] xref: UMLS:C4021011 is_a: HP:0010645 ! Aplasia of the distal phalanges of the toes is_a: HP:0100362 ! Aplasia of the phalanges of the 3rd toe is_a: HP:0100369 ! Aplasia/Hypoplasia of the distal phalanx of the 3rd toe [Term] id: HP:0100379 name: Aplasia of the distal phalanx of the 4th toe synonym: "Absent distal phalanx of the 4th toe" EXACT [ORCID:0000-0001-5208-3432] synonym: "Absent outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022113 is_a: HP:0010645 ! Aplasia of the distal phalanges of the toes is_a: HP:0100363 ! Aplasia of the phalanges of the 4th toe is_a: HP:0100370 ! Aplasia/Hypoplasia of the distal phalanx of the 4th toe [Term] id: HP:0100380 name: Aplasia of the distal phalanx of the 5th toe synonym: "Absent outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022112 is_a: HP:0010645 ! Aplasia of the distal phalanges of the toes is_a: HP:0100364 ! Aplasia of the phalanges of the 5th toe is_a: HP:0100371 ! Aplasia/Hypoplasia of the distal phalanx of the 5th toe [Term] id: HP:0100381 name: Absent middle phalanx of the 3rd toe def: "Developmental aplasia of the middle phalanx of third toe." [HPO:sdoelken] synonym: "Absent middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent middle phalanx of the third toe" EXACT [] synonym: "Aplasia of the middle phalanx of the 3rd toe" EXACT [] xref: UMLS:C4021010 is_a: HP:0100362 ! Aplasia of the phalanges of the 3rd toe is_a: HP:0100372 ! Aplasia/Hypoplasia of the middle phalanx of the 3rd toe is_a: HP:0100387 ! Aplasia of the middle phalanges of the toes [Term] id: HP:0100382 name: Aplasia of the middle phalanx of the 4th toe synonym: "Absent middle bone of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022111 is_a: HP:0100363 ! Aplasia of the phalanges of the 4th toe is_a: HP:0100373 ! Aplasia/Hypoplasia of the middle phalanx of the 4th toe is_a: HP:0100387 ! Aplasia of the middle phalanges of the toes [Term] id: HP:0100383 name: Aplasia of the middle phalanx of the 5th toe synonym: "Absent middle bone of little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent middle bone of pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent middle bone of pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022110 is_a: HP:0100364 ! Aplasia of the phalanges of the 5th toe is_a: HP:0100374 ! Aplasia/Hypoplasia of the middle phalanx of the 5th toe is_a: HP:0100387 ! Aplasia of the middle phalanges of the toes [Term] id: HP:0100384 name: Absent proximal phalanx of the 3rd toe def: "Absence of proximal phalanx of third toe, owing to a congenital defect of development." [HPO:probinson] synonym: "Absent innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Aplasia of the proximal phalanx of the 3rd toe" EXACT [] xref: UMLS:C4021009 is_a: HP:0100362 ! Aplasia of the phalanges of the 3rd toe is_a: HP:0100375 ! Aplasia/hypoplasia of the proximal phalanx of the 3rd toe is_a: HP:0100388 ! Aplasia of the proximal phalanges of the toes [Term] id: HP:0100385 name: Aplasia of the proximal phalanx of the 4th toe synonym: "Absent innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4022109 is_a: HP:0100363 ! Aplasia of the phalanges of the 4th toe is_a: HP:0100376 ! Aplasia/hypoplasia of the proximal phalanx of the 4th toe is_a: HP:0100388 ! Aplasia of the proximal phalanges of the toes [Term] id: HP:0100386 name: Aplasia of the proximal phalanx of the 5th toe synonym: "Absent innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Absent innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Absent innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4022108 is_a: HP:0100364 ! Aplasia of the phalanges of the 5th toe is_a: HP:0100377 ! Aplasia/hypoplasia of the proximal phalanx of the 5th toe is_a: HP:0100388 ! Aplasia of the proximal phalanges of the toes [Term] id: HP:0100387 name: Aplasia of the middle phalanges of the toes synonym: "Absent middle toe bones" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4022107 is_a: HP:0010745 ! Aplasia of the phalanges of the toes created_by: doelkens creation_date: 2010-11-11T04:55:30Z [Term] id: HP:0100388 name: Aplasia of the proximal phalanges of the toes synonym: "Absent innermost toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022106 is_a: HP:0010745 ! Aplasia of the phalanges of the toes created_by: doelkens creation_date: 2010-11-11T04:55:30Z [Term] id: HP:0100389 name: Short distal phalanx of the 3rd toe def: "Developmental hypoplasia of the distal phalanx of third toe." [HPO:probinson] synonym: "Hypoplastic/small distal phalanx of the 3rd toe" EXACT [] synonym: "Short distal phalanx of the third toe" EXACT [] synonym: "Short outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021008 is_a: HP:0100366 ! Short phalanx of the 3rd toe is_a: HP:0100369 ! Aplasia/Hypoplasia of the distal phalanx of the 3rd toe [Term] id: HP:0100390 name: Short distal phalanx of the 4th toe def: "Developmental hypoplasia of the distal phalanx of fourth toe." [HPO:sdoelken] synonym: "Hypoplastic/small distal phalanx of the 4th toe" EXACT [] synonym: "Short distal phalanx of the fourth toe" EXACT [] synonym: "Short outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021007 is_a: HP:0100367 ! Short phalanx of the 4th toe is_a: HP:0100370 ! Aplasia/Hypoplasia of the distal phalanx of the 4th toe [Term] id: HP:0100391 name: Short distal phalanx of the 5th toe def: "Developmental hypoplasia of the distal phalanx of little toe." [HPO:sdoelken] synonym: "Hypoplastic/small distal phalanx of the 5th toe" EXACT [] synonym: "Short distal phalanx of the fifth toe" EXACT [] synonym: "Short outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021006 is_a: HP:0100368 ! Short phalanx of the 5th toe is_a: HP:0100371 ! Aplasia/Hypoplasia of the distal phalanx of the 5th toe [Term] id: HP:0100392 name: Short middle phalanx of the 3rd toe def: "Developmental hypoplasia of the middle phalanx of third toe." [HPO:sdoelken] synonym: "Hypoplastic/small middle phalanx of the 3rd toe" EXACT [] synonym: "Short middle phalanx of the third toe" EXACT [] xref: UMLS:C4021005 is_a: HP:0100366 ! Short phalanx of the 3rd toe is_a: HP:0100372 ! Aplasia/Hypoplasia of the middle phalanx of the 3rd toe [Term] id: HP:0100393 name: Short middle phalanx of the 4th toe def: "Developmental hypoplasia of the middle phalanx of fourth toe." [HPO:sdoelken] synonym: "Hypoplastic/small middle phalanx of the 4th toe" EXACT [] synonym: "Short middle bone of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short middle phalanx of the fourth toe" EXACT [] xref: UMLS:C4021004 is_a: HP:0100367 ! Short phalanx of the 4th toe is_a: HP:0100373 ! Aplasia/Hypoplasia of the middle phalanx of the 4th toe [Term] id: HP:0100394 name: Short middle phalanx of the 5th toe def: "Developmental hypoplasia of the middle phalanx of the 5th toe." [HPO:probinson] synonym: "Hypoplastic/small middle phalanx of the 5th toe" EXACT layperson [] synonym: "Short middle bone of little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short middle bone of pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short middle bone of pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short middle phalanx of the fifth toe" EXACT [] xref: UMLS:C4021003 is_a: HP:0100368 ! Short phalanx of the 5th toe is_a: HP:0100374 ! Aplasia/Hypoplasia of the middle phalanx of the 5th toe [Term] id: HP:0100395 name: Short proximal phalanx of the 3rd toe def: "Abnormal reduction in length of proximal phalanx of third toe." [HPO:probinson] synonym: "Hypoplastic/small proximal phalanx of the 3rd toe" EXACT [] synonym: "Short proximal phalanx of the third toe" EXACT [] xref: UMLS:C4021002 is_a: HP:0100366 ! Short phalanx of the 3rd toe is_a: HP:0100375 ! Aplasia/hypoplasia of the proximal phalanx of the 3rd toe [Term] id: HP:0100396 name: Short proximal phalanx of the 4th toe alt_id: HP:0005628 def: "Developmental hypoplasia of the proximal phalanx of fourth toe." [HPO:probinson] synonym: "Hypoplastic/small proximal phalanx of the 4th toe" EXACT [] synonym: "Short fourth toe proximal phalanx" EXACT [] synonym: "Short proximal phalanx of the fourth toe" EXACT [] xref: UMLS:C4021001 is_a: HP:0100367 ! Short phalanx of the 4th toe is_a: HP:0100376 ! Aplasia/hypoplasia of the proximal phalanx of the 4th toe [Term] id: HP:0100397 name: Short proximal phalanx of the 5th toe def: "Developmental hypoplasia of the proximal phalanx of fifth toe." [HPO:probinson] synonym: "Hypoplastic/small proximal phalanx of the 5th toe" EXACT layperson [] synonym: "Short innermost bone of little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short innermost bone of pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short innermost bone of pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Short proximal phalanx of the fifth toe" EXACT layperson [] xref: UMLS:C4021000 is_a: HP:0100368 ! Short phalanx of the 5th toe is_a: HP:0100377 ! Aplasia/hypoplasia of the proximal phalanx of the 5th toe [Term] id: HP:0100398 name: Duplication of the distal phalanx of the 3rd toe def: "Partial or complete duplication of distal phalanx of third toe." [HPO:probinson] synonym: "Duplication of the distal phalanx of the third toe" EXACT [] synonym: "Duplication of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the distal phalanx of the 3rd toe" EXACT [] xref: UMLS:C4020999 is_a: HP:0010367 ! Duplication of phalanx of the 3rd toe is_a: HP:0010368 ! Abnormality of the distal phalanx of the 3rd toe [Term] id: HP:0100399 name: Duplication of the distal phalanx of the 4th toe def: "Partial or complete duplication of the distal phalanx of fourth toe." [HPO:sdoelken] synonym: "Duplication of the distal phalanx of the fourth toe" EXACT [] synonym: "Duplication of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the distal phalanx of the 4th toe" EXACT [] xref: UMLS:C4020998 is_a: HP:0010379 ! Duplication of phalanx of the 4th toe is_a: HP:0010380 ! Abnormality of the distal phalanx of the 4th toe [Term] id: HP:0100400 name: Duplication of the distal phalanx of the 5th toe def: "Partial or complete duplication of the distal phalanx of little toe." [HPO:sdoelken] synonym: "Duplication of the distal phalanx of the fifth toe" EXACT [] synonym: "Duplication of the outermost bone of the fifth toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial/complete duplication of the distal phalanx of the 5th toe" EXACT [] xref: UMLS:C4020997 is_a: HP:0010391 ! Duplication of the phalanges of the 5th toe is_a: HP:0010392 ! Abnormality of the distal phalanx of the 5th toe [Term] id: HP:0100401 name: Duplication of the middle phalanx of the 3rd toe def: "Partial or complete duplication of middle phalanx of third toe." [HPO:sdoelken] synonym: "Duplication of the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of the middle phalanx of the third toe" EXACT [] synonym: "Partial/complete duplication of the middle phalanx of the 3rd toe" EXACT [] xref: UMLS:C4020996 is_a: HP:0010202 ! Duplication of middle phalanx of toe is_a: HP:0010367 ! Duplication of phalanx of the 3rd toe is_a: HP:0010369 ! Abnormality of the middle phalanx of the 3rd toe [Term] id: HP:0100402 name: Duplication of the middle phalanx of the 4th toe def: "Partial or complete duplication of middle phalanx of fourth toe." [HPO:sdoelken] synonym: "Duplication of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of the middle phalanx of the fourth toe" EXACT [] synonym: "Partial/complete duplication of the middle phalanx of the 4th toe" EXACT [] xref: UMLS:C4020995 is_a: HP:0010379 ! Duplication of phalanx of the 4th toe is_a: HP:0010381 ! Abnormality of the middle phalanx of the 4th toe [Term] id: HP:0100403 name: Duplication of the middle phalanx of the 5th toe def: "Partial or complete duplication of the middle phalanx of the 5th toe." [HPO:probinson] synonym: "Duplication of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of the middle phalanx of the fifth toe" EXACT [] synonym: "Partial/complete duplication of the middle phalanx of the 5th toe" EXACT [] xref: UMLS:C4020994 is_a: HP:0010202 ! Duplication of middle phalanx of toe is_a: HP:0010391 ! Duplication of the phalanges of the 5th toe is_a: HP:0010393 ! Abnormality of the middle phalanx of the 5th toe [Term] id: HP:0100404 name: Duplication of the proximal phalanx of the 3rd toe def: "Partial or complete duplication of proximal phalanx of third toe." [HPO:sdoelken] synonym: "Duplication of the innermost 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of the proximal phalanx of the third toe" EXACT [] synonym: "Partial/complete duplication of the proximal phalanx of the 3rd toe" EXACT [] xref: UMLS:C4020993 is_a: HP:0010211 ! Duplication of proximal phalanx of toe is_a: HP:0010367 ! Duplication of phalanx of the 3rd toe is_a: HP:0010370 ! Abnormality of the proximal phalanx of the 3rd toe [Term] id: HP:0100405 name: Duplication of the proximal phalanx of the 4th toe def: "Partial or complete duplication of the proximal phalanx of fourth toe." [HPO:sdoelken] synonym: "Duplication of the innermost 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of the proximal phalanx of the fourth toe" EXACT [] synonym: "Partial/complete duplication of the proximal phalanx of the 4th toe" EXACT [] xref: UMLS:C4020992 is_a: HP:0010211 ! Duplication of proximal phalanx of toe is_a: HP:0010379 ! Duplication of phalanx of the 4th toe is_a: HP:0010382 ! Abnormality of the proximal phalanx of the 4th toe [Term] id: HP:0100406 name: Duplication of the proximal phalanx of the 5th toe def: "Partial or complete duplication of the proximal phalanx of fifth toe." [HPO:probinson] synonym: "Duplication of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Duplication of the proximal phalanx of the fifth toe" EXACT [] synonym: "Partial/complete duplication of the proximal phalanx of the 5th toe" EXACT [] xref: UMLS:C4020991 is_a: HP:0010391 ! Duplication of the phalanges of the 5th toe is_a: HP:0010394 ! Abnormality of the proximal phalanx of the 5th toe [Term] id: HP:0100407 name: Complete duplication of the distal phalanx of the 3rd toe def: "Complete duplication of distal phalanx of third toe." [HPO:sdoelken] synonym: "Complete duplication of the distal phalanx of the third toe" EXACT [] synonym: "Complete duplication of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4020990 is_a: HP:0100398 ! Duplication of the distal phalanx of the 3rd toe [Term] id: HP:0100408 name: Complete duplication of the distal phalanx of the 4th toe def: "Complete duplication of the distal phalanx of fourth toe." [HPO:sdoelken] synonym: "Complete duplication of the distal phalanx of the fourth toe" EXACT [] synonym: "Complete duplication of the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4020989 is_a: HP:0100399 ! Duplication of the distal phalanx of the 4th toe [Term] id: HP:0100409 name: Complete duplication of the distal phalanx of the 5th toe def: "Complete duplication of the distal phalanx of little toe." [HPO:sdoelken] synonym: "Complete duplication of the distal phalanx of the fifth toe" EXACT [] synonym: "Complete duplication of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Complete duplication of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Complete duplication of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4020988 is_a: HP:0100400 ! Duplication of the distal phalanx of the 5th toe [Term] id: HP:0100410 name: Complete duplication of the middle phalanx of the 3rd toe def: "Complete duplication of middle phalanx of third toe." [HPO:sdoelken] synonym: "Complete duplication of the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Complete duplication of the middle phalanx of the third toe" EXACT [] xref: UMLS:C4020987 is_a: HP:0100401 ! Duplication of the middle phalanx of the 3rd toe [Term] id: HP:0100411 name: Complete duplication of the middle phalanx of the 4th toe def: "Complete duplication of middle phalanx of fourth toe." [HPO:sdoelken] synonym: "Complete duplication of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Complete duplication of the middle phalanx of the fourth toe" EXACT [] xref: UMLS:C4020986 is_a: HP:0100402 ! Duplication of the middle phalanx of the 4th toe [Term] id: HP:0100412 name: Complete duplication of the middle phalanx of the 5th toe def: "Complete duplication of the middle phalanx of the 5th toe." [HPO:probinson] synonym: "Complete duplication of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Complete duplication of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Complete duplication of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Complete duplication of the middle phalanx of the fifth toe" EXACT [] xref: UMLS:C4020985 is_a: HP:0100403 ! Duplication of the middle phalanx of the 5th toe [Term] id: HP:0100413 name: Complete duplication of the proximal phalanx of the 3rd toe def: "Complete duplication of proximal phalanx of third toe." [HPO:sdoelken] synonym: "Complete duplication of the innermost 3rd toe bone" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4022105 is_a: HP:0100404 ! Duplication of the proximal phalanx of the 3rd toe [Term] id: HP:0100414 name: Complete duplication of the proximal phalanx of the 4th toe synonym: "Complete duplication of the innermost 4th toe bone" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4022104 is_a: HP:0100405 ! Duplication of the proximal phalanx of the 4th toe [Term] id: HP:0100415 name: Complete duplication of the proximal phalanx of the 5th toe def: "Complete duplication of the proximal phalanx of fifth toe." [HPO:sdoelken] synonym: "Complete duplication of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Complete duplication of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Complete duplication of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Complete duplication of the proximal phalanx of the fifth toe" EXACT [] xref: UMLS:C4020984 is_a: HP:0100406 ! Duplication of the proximal phalanx of the 5th toe [Term] id: HP:0100416 name: Partial duplication of the distal phalanx of the 3rd toe def: "Partial duplication of distal phalanx of third toe." [HPO:sdoelken] synonym: "Partial duplication of the distal phalanx of the third toe" EXACT [] synonym: "Partial duplication of the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4020983 is_a: HP:0100398 ! Duplication of the distal phalanx of the 3rd toe [Term] id: HP:0100417 name: Partial duplication of the distal phalanx of the 4th toe def: "Partial duplication of the distal phalanx of fourth toe." [HPO:sdoelken] synonym: "Partial duplication of the distal phalanx of the fourth toe" EXACT [] synonym: "Partial duplication of the outermost bone of the fourth toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4020982 is_a: HP:0100399 ! Duplication of the distal phalanx of the 4th toe [Term] id: HP:0100418 name: Partial duplication of the distal phalanx of the 5th toe def: "Partial duplication of the distal phalanx of little toe." [HPO:sdoelken] synonym: "Partial duplication of the distal phalanx of the fifth toe" EXACT [] synonym: "Partial duplication of the outermost bone of the fifth toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial duplication of the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial duplication of the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial duplication of the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4020981 is_a: HP:0100400 ! Duplication of the distal phalanx of the 5th toe [Term] id: HP:0100419 name: Partial duplication of the middle phalanx of the 3rd toe def: "Partial duplication of middle phalanx of third toe." [HPO:probinson] synonym: "Partial duplication of the middle bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial duplication of the middle phalanx of the third toe" EXACT [] xref: UMLS:C4020980 is_a: HP:0100401 ! Duplication of the middle phalanx of the 3rd toe [Term] id: HP:0100420 name: Partial duplication of the middle phalanx of the 4th toe def: "Partial duplication of middle phalanx of fourth toe." [HPO:sdoelken] synonym: "Partial duplication of the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial duplication of the middle phalanx of the fourth toe" EXACT [] xref: UMLS:C4020979 is_a: HP:0100402 ! Duplication of the middle phalanx of the 4th toe [Term] id: HP:0100421 name: Partial duplication of the middle phalanx of the 5th toe def: "Partial duplication of the middle phalanx of the 5th toe." [HPO:probinson] synonym: "Partial duplication of the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial duplication of the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial duplication of the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial duplication of the middle phalanx of the fifth toe" EXACT [] xref: UMLS:C4020978 is_a: HP:0100403 ! Duplication of the middle phalanx of the 5th toe [Term] id: HP:0100422 name: Partial duplication of the proximal phalanx of the 3rd toe def: "Partial duplication of proximal phalanx of third toe." [HPO:probinson] synonym: "Partial duplication of the innermost bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial duplication of the proximal phalanx of the third toe" EXACT [] xref: UMLS:C4020977 is_a: HP:0100404 ! Duplication of the proximal phalanx of the 3rd toe [Term] id: HP:0100423 name: Partial duplication of the proximal phalanx of the 4th toe synonym: "Partial duplication of the innermost bone of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022103 is_a: HP:0100405 ! Duplication of the proximal phalanx of the 4th toe [Term] id: HP:0100424 name: Partial duplication of the proximal phalanx of the 5th toe def: "Partial duplication of the proximal phalanx of fifth toe." [HPO:sdoelken] synonym: "Partial duplication of the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial duplication of the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial duplication of the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Partial duplication of the proximal phalanx of the fifth toe" EXACT [] xref: UMLS:C4020976 is_a: HP:0100406 ! Duplication of the proximal phalanx of the 5th toe [Term] id: HP:0100425 name: Broad middle phalanx of the 3rd toe synonym: "Broad middle 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022102 is_a: HP:0010195 ! Broad middle phalanges of the toes is_a: HP:0010360 ! Broad phalanges of the 3rd toe is_a: HP:0010369 ! Abnormality of the middle phalanx of the 3rd toe [Term] id: HP:0100426 name: Broad middle phalanx of the 4th toe synonym: "Broad middle 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022101 is_a: HP:0010195 ! Broad middle phalanges of the toes is_a: HP:0010372 ! Broad phalanges of the 4th toe is_a: HP:0010381 ! Abnormality of the middle phalanx of the 4th toe [Term] id: HP:0100427 name: Broad middle phalanx of the 5th toe synonym: "Broad middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Broad middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Broad middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022100 is_a: HP:0010195 ! Broad middle phalanges of the toes is_a: HP:0010384 ! Broad phalanges of the 5th toe is_a: HP:0010393 ! Abnormality of the middle phalanx of the 5th toe [Term] id: HP:0100428 name: Broad proximal phalanx of the 3rd toe synonym: "Wide innermost bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022099 is_a: HP:0010204 ! Broad proximal phalanx of toe is_a: HP:0010360 ! Broad phalanges of the 3rd toe is_a: HP:0010370 ! Abnormality of the proximal phalanx of the 3rd toe [Term] id: HP:0100429 name: Broad proximal phalanx of the 4th toe synonym: "Wide innermost bone of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022098 is_a: HP:0010204 ! Broad proximal phalanx of toe is_a: HP:0010372 ! Broad phalanges of the 4th toe is_a: HP:0010382 ! Abnormality of the proximal phalanx of the 4th toe [Term] id: HP:0100430 name: Broad proximal phalanx of the 5th toe synonym: "Broad innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Broad innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Broad innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022097 is_a: HP:0010204 ! Broad proximal phalanx of toe is_a: HP:0010384 ! Broad phalanges of the 5th toe is_a: HP:0010394 ! Abnormality of the proximal phalanx of the 5th toe [Term] id: HP:0100431 name: Broad distal phalanx of the 3rd toe synonym: "Broad outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022096 is_a: HP:0010186 ! Broad distal phalanx of the toes is_a: HP:0010360 ! Broad phalanges of the 3rd toe is_a: HP:0010368 ! Abnormality of the distal phalanx of the 3rd toe [Term] id: HP:0100432 name: Broad distal phalanx of the 4th toe synonym: "Broad outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022095 is_a: HP:0010186 ! Broad distal phalanx of the toes is_a: HP:0010372 ! Broad phalanges of the 4th toe is_a: HP:0010380 ! Abnormality of the distal phalanx of the 4th toe [Term] id: HP:0100433 name: Broad distal phalanx of the 5th toe synonym: "Broad outermost bone of the 5th toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Wide outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022094 is_a: HP:0010186 ! Broad distal phalanx of the toes is_a: HP:0010384 ! Broad phalanges of the 5th toe is_a: HP:0010392 ! Abnormality of the distal phalanx of the 5th toe [Term] id: HP:0100434 name: Bullet-shaped middle phalanx of the 3rd toe def: "An abnormal morphology of the middle phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022093 is_a: HP:0010361 ! Bullet-shaped 3rd toe phalanx [Term] id: HP:0100435 name: Bullet-shaped middle phalanx of the 4th toe def: "An abnormal morphology of the middle phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022092 is_a: HP:0010373 ! Bullet-shaped 4th toe phalanx [Term] id: HP:0100436 name: Bullet-shaped middle phalanx of the 5th toe def: "An abnormal morphology of the middle phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bullet-shaped middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bullet-shaped middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022091 is_a: HP:0010385 ! Bullet-shaped 5th toe phalanx [Term] id: HP:0100437 name: Bullet-shaped proximal phalanx of the 3rd toe def: "An abnormal morphology of the proximal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped proximal bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022090 is_a: HP:0010205 ! Bullet-shaped proximal toe phalanx is_a: HP:0010361 ! Bullet-shaped 3rd toe phalanx [Term] id: HP:0100438 name: Bullet-shaped proximal phalanx of the 4th toe def: "An abnormal morphology of the proximal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped proximal bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022089 is_a: HP:0010205 ! Bullet-shaped proximal toe phalanx is_a: HP:0010373 ! Bullet-shaped 4th toe phalanx [Term] id: HP:0100439 name: Bullet-shaped proximal phalanx of the 5th toe def: "An abnormal morphology of the proximal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped innermost bone of little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bullet-shaped innermost bone of pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bullet-shaped innermost bone of pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022088 is_a: HP:0010205 ! Bullet-shaped proximal toe phalanx is_a: HP:0010385 ! Bullet-shaped 5th toe phalanx [Term] id: HP:0100440 name: Bullet-shaped distal phalanx of the 3rd toe def: "An abnormal morphology of the distal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022087 is_a: HP:0010361 ! Bullet-shaped 3rd toe phalanx [Term] id: HP:0100441 name: Bullet-shaped distal phalanx of the 4th toe def: "An abnormal morphology of the distal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022086 is_a: HP:0010373 ! Bullet-shaped 4th toe phalanx [Term] id: HP:0100442 name: Bullet-shaped distal phalanx of the 5th toe def: "An abnormal morphology of the distal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bullet-shaped outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Bullet-shaped outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022085 is_a: HP:0010385 ! Bullet-shaped 5th toe phalanx [Term] id: HP:0100443 name: Curved middle phalanx of the 3rd toe def: "A deviation from the normal straight form of the middle phalanx of the third toe." [HPO:probinson] synonym: "Curved middle bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022084 is_a: HP:0010197 ! Curved middle toe phalanx is_a: HP:0010362 ! Curved 3rd toe phalanx is_a: HP:0010369 ! Abnormality of the middle phalanx of the 3rd toe [Term] id: HP:0100444 name: Curved middle phalanx of the 4th toe def: "A deviation from the normal straight form of the middle phalanx of the fourth toe." [HPO:probinson] synonym: "Curved middle bone of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022083 is_a: HP:0010197 ! Curved middle toe phalanx is_a: HP:0010374 ! Curved 4th toe phalanx is_a: HP:0010381 ! Abnormality of the middle phalanx of the 4th toe [Term] id: HP:0100445 name: Curved middle phalanx of the 5th toe def: "A deviation from the normal straight form of the middle phalanx of the fifth toe." [HPO:probinson] synonym: "Curved middle bone of little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Curved middle bone of pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Curved middle bone of pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022082 is_a: HP:0010197 ! Curved middle toe phalanx is_a: HP:0010386 ! Curved 5th toe phalanx is_a: HP:0010393 ! Abnormality of the middle phalanx of the 5th toe [Term] id: HP:0100446 name: Curved proximal phalanx of the 3rd toe def: "A deviation from the normal straight form of the proximal phalanx of the third toe." [HPO:probinson] synonym: "Curved innermost bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022081 is_a: HP:0010206 ! Curved proximal toe phalanx is_a: HP:0010362 ! Curved 3rd toe phalanx is_a: HP:0010370 ! Abnormality of the proximal phalanx of the 3rd toe [Term] id: HP:0100447 name: Curved proximal phalanx of the 4th toe def: "A deviation from the normal straight form of the proximal phalanx of the fourth toe." [HPO:probinson] synonym: "Curved innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022080 is_a: HP:0010206 ! Curved proximal toe phalanx is_a: HP:0010374 ! Curved 4th toe phalanx is_a: HP:0010382 ! Abnormality of the proximal phalanx of the 4th toe [Term] id: HP:0100448 name: Curved proximal phalanx of the 5th toe def: "A deviation from the normal straight form of the proximal phalanx of the fifth toe." [HPO:probinson] synonym: "Curved innermost little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Curved innermost pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Curved innermost pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022079 is_a: HP:0010206 ! Curved proximal toe phalanx is_a: HP:0010386 ! Curved 5th toe phalanx is_a: HP:0010394 ! Abnormality of the proximal phalanx of the 5th toe [Term] id: HP:0100449 name: Curved distal phalanx of the 3rd toe def: "A deviation from the normal straight form of the distal phalanx of the third toe." [HPO:probinson] synonym: "Curved outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022078 is_a: HP:0010188 ! Curved distal toe phalanx is_a: HP:0010362 ! Curved 3rd toe phalanx is_a: HP:0010368 ! Abnormality of the distal phalanx of the 3rd toe [Term] id: HP:0100450 name: Curved distal phalanx of the 4th toe def: "A deviation from the normal straight form of the distal phalanx of the fourth toe." [HPO:probinson] synonym: "Curved outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022077 is_a: HP:0010188 ! Curved distal toe phalanx is_a: HP:0010374 ! Curved 4th toe phalanx is_a: HP:0010380 ! Abnormality of the distal phalanx of the 4th toe [Term] id: HP:0100451 name: Curved distal phalanx of the 5th toe def: "A deviation from the normal straight form of the distal phalanx of the fifth toe." [HPO:probinson] synonym: "Curved outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Curved outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Curved outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022076 is_a: HP:0010188 ! Curved distal toe phalanx is_a: HP:0010386 ! Curved 5th toe phalanx is_a: HP:0010392 ! Abnormality of the distal phalanx of the 5th toe [Term] id: HP:0100452 name: Osteolytic defects of the middle phalanx of the 3rd toe xref: UMLS:C4022075 is_a: HP:0010363 ! Osteolytic defects of the phalanges of the 3rd toe [Term] id: HP:0100453 name: Osteolytic defects of the middle phalanx of the 4th toe xref: UMLS:C4022074 is_a: HP:0010375 ! Osteolytic defects of the phalanges of the 4th toe [Term] id: HP:0100454 name: Osteolytic defects of the middle phalanx of the 5th toe xref: UMLS:C4022073 is_a: HP:0010387 ! Osteolytic defects of the phalanges of the 5th toe [Term] id: HP:0100455 name: Osteolytic defects of the proximal phalanx of the 3rd toe xref: UMLS:C4022072 is_a: HP:0010363 ! Osteolytic defects of the phalanges of the 3rd toe [Term] id: HP:0100456 name: Osteolytic defects of the proximal phalanx of the 4th toe xref: UMLS:C4022071 is_a: HP:0010375 ! Osteolytic defects of the phalanges of the 4th toe [Term] id: HP:0100457 name: Osteolytic defects of the proximal phalanx of the 5th toe xref: UMLS:C4022070 is_a: HP:0010387 ! Osteolytic defects of the phalanges of the 5th toe [Term] id: HP:0100458 name: Osteolytic defects of the distal phalanx of the 3rd toe synonym: "Osteolytic defects of the outermost bone of the 3rd toe" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4022069 is_a: HP:0010363 ! Osteolytic defects of the phalanges of the 3rd toe [Term] id: HP:0100459 name: Osteolytic defects of the distal phalanx of the 4th toe synonym: "Osteolytic defects of the outermost bone of the 4th toe" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4022068 is_a: HP:0010375 ! Osteolytic defects of the phalanges of the 4th toe [Term] id: HP:0100460 name: Osteolytic defects of the distal phalanx of the 5th toe synonym: "Osteolytic defects of the outermost bone of the 5th toe" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4022067 is_a: HP:0010387 ! Osteolytic defects of the phalanges of the 5th toe [Term] id: HP:0100461 name: Patchy sclerosis of the middle phalanx of the 3rd toe synonym: "Uneven increase in bone density in the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022066 is_a: HP:0010199 ! Patchy sclerosis of middle toe phalanx is_a: HP:0010364 ! Patchy sclerosis of 3rd toe phalanx is_a: HP:0100936 ! Sclerosis of the middle phalanx of the 3rd toe [Term] id: HP:0100462 name: Patchy sclerosis of the middle phalanx of the 4th toe def: "Uneven increase in bone density of the middle phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] synonym: "Uneven increase in bone density in middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022065 is_a: HP:0010199 ! Patchy sclerosis of middle toe phalanx is_a: HP:0010376 ! Patchy sclerosis of 4th toe phalanx is_a: HP:0100937 ! Sclerosis of the middle phalanx of the 4th toe [Term] id: HP:0100463 name: Patchy sclerosis of the middle phalanx of the 5th toe def: "Uneven increase in bone density of the middle phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] synonym: "Uneven increase in bone density in the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Uneven increase in bone density in the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Uneven increase in bone density in the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022064 is_a: HP:0010199 ! Patchy sclerosis of middle toe phalanx is_a: HP:0010388 ! Patchy sclerosis of 5th toe phalanx is_a: HP:0100938 ! Sclerosis of the middle phalanx of the 5th toe [Term] id: HP:0100464 name: Patchy sclerosis of the proximal phalanx of the 3rd toe synonym: "Uneven increase in bone density in the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022063 is_a: HP:0010208 ! Patchy sclerosis of proximal toe phalanx is_a: HP:0010364 ! Patchy sclerosis of 3rd toe phalanx is_a: HP:0100932 ! Sclerosis of the proximal phalanx of the 3rd toe [Term] id: HP:0100465 name: Patchy sclerosis of the proximal phalanx of the 4th toe def: "Uneven increase in bone density of the proximal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] synonym: "Uneven increase in bone density in the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022062 is_a: HP:0010208 ! Patchy sclerosis of proximal toe phalanx is_a: HP:0010376 ! Patchy sclerosis of 4th toe phalanx is_a: HP:0100933 ! Sclerosis of the proximal phalanx of the 4th toe [Term] id: HP:0100466 name: Patchy sclerosis of the proximal phalanx of the 5th toe def: "Uneven increase in bone density of the proximal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] synonym: "Uneven increase in bone density in the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Uneven increase in bone density in the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Uneven increase in bone density in the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022061 is_a: HP:0010208 ! Patchy sclerosis of proximal toe phalanx is_a: HP:0010388 ! Patchy sclerosis of 5th toe phalanx is_a: HP:0100934 ! Sclerosis of the proximal phalanx of the 5th toe [Term] id: HP:0100467 name: Patchy sclerosis of the distal phalanx of the 3rd toe synonym: "Uneven increase in bone density in the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022060 is_a: HP:0010190 ! Patchy sclerosis of distal toe phalanx is_a: HP:0010364 ! Patchy sclerosis of 3rd toe phalanx is_a: HP:0100940 ! Sclerosis of the distal phalanx of the 3rd toe [Term] id: HP:0100468 name: Patchy sclerosis of the distal phalanx of the 4th toe def: "Uneven increase in bone density of the distal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] synonym: "Uneven increase in bone density in the outermost bone of the 4th toe" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4022059 is_a: HP:0010190 ! Patchy sclerosis of distal toe phalanx is_a: HP:0010376 ! Patchy sclerosis of 4th toe phalanx is_a: HP:0100941 ! Sclerosis of the distal phalanx of the 4th toe [Term] id: HP:0100469 name: Patchy sclerosis of the distal phalanx of the 5th toe def: "Patchy (irregular) increase in bone density of the distal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] synonym: "Uneven increase in bone density in the outermost little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Uneven increase in bone density in the outermost pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Uneven increase in bone density in the outermost pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022058 is_a: HP:0010190 ! Patchy sclerosis of distal toe phalanx is_a: HP:0010388 ! Patchy sclerosis of 5th toe phalanx is_a: HP:0100942 ! Sclerosis of the distal phalanx of the 5th toe [Term] id: HP:0100470 name: Symphalangism affecting the middle phalanx of the 3rd toe synonym: "Fused middle bones of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022057 is_a: HP:0010365 ! Symphalangism affecting the phalanges of the 3rd toe [Term] id: HP:0100471 name: Symphalangism affecting the middle phalanx of the 4th toe synonym: "Fused middle bones of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022056 is_a: HP:0010377 ! Symphalangism affecting the phalanges of the 4th toe [Term] id: HP:0100472 name: Symphalangism affecting the middle phalanx of the 5th toe synonym: "Fused middle bones of 5th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022055 is_a: HP:0010389 ! Symphalangism affecting the phalanges of the 5th toe [Term] id: HP:0100473 name: Symphalangism affecting the proximal phalanx of the 3rd toe synonym: "Fused innermost bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022054 is_a: HP:0010365 ! Symphalangism affecting the phalanges of the 3rd toe [Term] id: HP:0100474 name: Symphalangism affecting the proximal phalanx of the 4th toe synonym: "Fused innermost bones of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022053 is_a: HP:0010377 ! Symphalangism affecting the phalanges of the 4th toe [Term] id: HP:0100475 name: Symphalangism affecting the proximal phalanx of the 5th toe synonym: "Fused innermost bone of little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fused innermost bone of pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fused innermost bone of pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022052 is_a: HP:0010389 ! Symphalangism affecting the phalanges of the 5th toe [Term] id: HP:0100476 name: Symphalangism affecting the distal phalanx of the 3rd toe synonym: "Fused outermost bone of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022051 is_a: HP:0001859 ! Distal foot symphalangism is_a: HP:0100470 ! Symphalangism affecting the middle phalanx of the 3rd toe [Term] id: HP:0100477 name: Symphalangism affecting the distal phalanx of the 4th toe synonym: "Fused outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022050 is_a: HP:0001859 ! Distal foot symphalangism is_a: HP:0100471 ! Symphalangism affecting the middle phalanx of the 4th toe [Term] id: HP:0100478 name: Symphalangism affecting the distal phalanx of the 5th toe synonym: "Fused outermost bones of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fused outermost bones of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fused outermost bones of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022049 is_a: HP:0001859 ! Distal foot symphalangism is_a: HP:0100472 ! Symphalangism affecting the middle phalanx of the 5th toe [Term] id: HP:0100480 name: Proximal/middle symphalangism of 3rd toe def: "Bony fusion of the middle and proximal phalanges of the 3rd toe." [HPO:sdoelken] synonym: "Fused innermost and middle bones of 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Symphalangism of the middle and proximal phalanges of the 3rd toe" EXACT [] xref: UMLS:C4020975 is_a: HP:0010378 ! Triangular shaped phalanges of the 4th toe is_a: HP:0100237 ! Proximal foot symphalangism is_a: HP:0100470 ! Symphalangism affecting the middle phalanx of the 3rd toe is_a: HP:0100473 ! Symphalangism affecting the proximal phalanx of the 3rd toe [Term] id: HP:0100481 name: Proximal/middle symphalangism of 4th toe def: "Bony fusion of the middle and proximal phalanges of the 4th toe." [HPO:sdoelken] synonym: "Fused innermost and middle bones of 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Symphalangism of the middle and proximal phalanges of the 4th toe" EXACT [] xref: UMLS:C4020974 is_a: HP:0010390 ! Triangular shaped phalanges of the 5th toe is_a: HP:0100237 ! Proximal foot symphalangism is_a: HP:0100471 ! Symphalangism affecting the middle phalanx of the 4th toe is_a: HP:0100474 ! Symphalangism affecting the proximal phalanx of the 4th toe [Term] id: HP:0100482 name: Proximal/middle symphalangism of 5th toe def: "Bony fusion of the middle and proximal phalanges of the 5th toe." [HPO:sdoelken] synonym: "Fused innermost and middle little toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fused innermost and middle pinkie toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Fused innermost and middle pinky toe bones" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Symphalangism of the middle and proximal phalanges of the 5th toe" EXACT [] xref: UMLS:C4020973 is_a: HP:0010366 ! Triangular shaped phalanges of the 3rd toe is_a: HP:0100237 ! Proximal foot symphalangism is_a: HP:0100472 ! Symphalangism affecting the middle phalanx of the 5th toe is_a: HP:0100475 ! Symphalangism affecting the proximal phalanx of the 5th toe [Term] id: HP:0100483 name: Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal synonym: "Fused innermost bone of 2nd toe with the 2nd long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022048 is_a: HP:0001440 ! Metatarsal synostosis is_a: HP:0010378 ! Triangular shaped phalanges of the 4th toe is_a: HP:0010401 ! Symphalangism affecting the proximal phalanx of the 2nd toe [Term] id: HP:0100484 name: Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal synonym: "Fused innermost bones of third toe with 3rd long bone of foot" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4022047 is_a: HP:0001440 ! Metatarsal synostosis is_a: HP:0010390 ! Triangular shaped phalanges of the 5th toe is_a: HP:0100473 ! Symphalangism affecting the proximal phalanx of the 3rd toe [Term] id: HP:0100485 name: Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal synonym: "Fused innermost bone of the 4th toe with 4th long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022046 is_a: HP:0001440 ! Metatarsal synostosis is_a: HP:0010366 ! Triangular shaped phalanges of the 3rd toe is_a: HP:0100474 ! Symphalangism affecting the proximal phalanx of the 4th toe [Term] id: HP:0100486 name: Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal synonym: "Fused innermost pinky toe bone with the 5th long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022045 is_a: HP:0001440 ! Metatarsal synostosis is_a: HP:0010378 ! Triangular shaped phalanges of the 4th toe is_a: HP:0100475 ! Symphalangism affecting the proximal phalanx of the 5th toe [Term] id: HP:0100487 name: Triangular shaped distal phalanx of the 5th toe synonym: "Triangular shaped outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular shaped outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Triangular shaped outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022044 is_a: HP:0010390 ! Triangular shaped phalanges of the 5th toe [Term] id: HP:0100488 name: Synostosis of the proximal phalanx of the hallux with the 1st metatarsal synonym: "Fusion of the innermost big toe bone with the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022043 is_a: HP:0001440 ! Metatarsal synostosis is_a: HP:0010073 ! Synostosis involving the 1st metatarsal is_a: HP:0010091 ! Symphalangism affecting the proximal phalanx of the hallux is_a: HP:0010209 ! Symphalangism affecting the proximal phalanges of the toes is_a: HP:0100237 ! Proximal foot symphalangism created_by: doelkens creation_date: 2010-11-18T06:24:21Z [Term] id: HP:0100489 name: Proximal/middle symphalangism of 2nd toe alt_id: HP:0100479 def: "Bony fusion of the middle and proximal phalanges of the 2nd toe." [HPO:sdoelken] synonym: "Fused middle and innermost bones of 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Symphalangism of the middle and proximal phalanges of the 2nd toe" EXACT [] xref: UMLS:C4020972 is_a: HP:0010366 ! Triangular shaped phalanges of the 3rd toe is_a: HP:0010401 ! Symphalangism affecting the proximal phalanx of the 2nd toe is_a: HP:0010410 ! Symphalangism affecting the middle phalanx of the 2nd toe is_a: HP:0100237 ! Proximal foot symphalangism created_by: doelkens creation_date: 2010-11-18T06:49:16Z [Term] id: HP:0100490 name: Camptodactyly of finger alt_id: HP:0005651 alt_id: HP:0005662 alt_id: HP:0005713 alt_id: HP:0005801 alt_id: HP:0005821 alt_id: HP:0006195 alt_id: HP:0006218 alt_id: HP:0006240 alt_id: HP:0009698 def: "The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension." [HPO:sdoelken, pmid:19125433] comment: Note that some restrict the use of the term to inability to extend the proximal interphalangeal joint of the fifth finger. We do not restrict the term in this way. This term should not be used if the patient has Clenched hand. A similar effect can be created by radial angulation within the distal phalanx with thickening of the epiphysis, which is called Kirner deformity or dystelephalangy. The affected digits should be specified. synonym: "Camptodactyly of hands" EXACT [] synonym: "Camptodactyly of proximal interphalangeal joint" EXACT [] synonym: "Contractures of the proximal interphalangeal joints of the fingers" EXACT [] synonym: "Flexion contractures of proximal interphalangeal joints" EXACT [] synonym: "Permanent flexion of the finger" EXACT layperson [orcid.org/0000-0002-6548-5200] synonym: "Proximal interphalangeal finger joint contractures" EXACT [] xref: SNOMEDCT_US:202281000 xref: UMLS:C0409348 is_a: HP:0001220 ! Interphalangeal joint contracture of finger is_a: HP:0006261 ! Abnormal phalangeal joint morphology of the hand is_a: HP:0012385 ! Camptodactyly created_by: doelkens creation_date: 2010-12-14T10:46:57Z [Term] id: HP:0100491 name: Abnormality of lower limb joint alt_id: HP:0100239 synonym: "Abnormality of lower limb joint" EXACT layperson [] synonym: "Abnormality of the joints of the lower limbs" EXACT layperson [] xref: UMLS:C4020971 is_a: HP:0001367 ! Abnormal joint morphology is_a: HP:0002814 ! Abnormality of the lower limb created_by: doelkens creation_date: 2010-12-14T10:58:11Z [Term] id: HP:0100492 name: Joint contractures involving the joints of the feet def: "Contractures of one ore more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue." [HPO:sdoelken] xref: UMLS:C4022042 is_a: HP:0001371 ! Flexion contracture is_a: HP:0100491 ! Abnormality of lower limb joint created_by: doelkens creation_date: 2010-12-14T11:03:38Z [Term] id: HP:0100493 name: Hypoammonemia def: "A decreased concentration of ammonia in the blood." [HPO:gcarletti] xref: UMLS:C4022041 is_a: HP:0004364 ! Abnormal circulating nitrogen compound concentration created_by: doelkens creation_date: 2010-12-17T03:54:51Z [Term] id: HP:0100494 name: Abnormal mast cell morphology def: "Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation." [HPO:sdoelken] comment: Mast cells (or mastocytes) can be found in several types of tissues and contain many granules rich in histamine and heparin. Although best known for their role in allergy and anaphylaxis, mast cells play an important protective role as well, being intimately involved in wound healing and defense against pathogens. Mast cells possess a non-lobed nucleus and can work with basophils in the immune defense against worms. Their cell membrane is covered with Fc recepros that may be attached to class E antibodies. synonym: "Abnormality of mast cells" EXACT [] synonym: "Abnormality of mastocytes" EXACT [] xref: SNOMEDCT_US:397017008 xref: UMLS:C1301149 is_a: HP:0001911 ! Abnormal granulocyte morphology created_by: doelkens creation_date: 2010-12-17T04:02:08Z [Term] id: HP:0100495 name: Mastocytosis def: "The presence of an increased number of mast cells and CD34+ mast cell precursors in the body." [HPO:sdoelken] xref: MSH:D008415 xref: SNOMEDCT_US:125541005 xref: SNOMEDCT_US:397007003 xref: UMLS:C0024899 is_a: HP:0100494 ! Abnormal mast cell morphology created_by: doelkens creation_date: 2010-12-17T04:06:36Z [Term] id: HP:0100496 name: Abnormality of the vitamin B3 metabolism comment: Vitamin B3 is also known as nicotinic acid, vitamin PP or Niacin and is one of the forty to eighty essential human nutrients. synonym: "Abnormality of the vitamin B3 metabolism" EXACT layperson [] xref: UMLS:C4022040 is_a: HP:0004340 ! Abnormality of vitamin B metabolism created_by: doelkens creation_date: 2010-12-17T04:13:00Z [Term] id: HP:0100497 name: Vitamin B3 deficiency synonym: "Vitamin B3 deficiency" EXACT layperson [] xref: MSH:D010383 xref: SNOMEDCT_US:418186002 xref: SNOMEDCT_US:418279001 xref: UMLS:C0030783 is_a: HP:0100496 ! Abnormality of the vitamin B3 metabolism created_by: doelkens creation_date: 2010-12-17T04:14:51Z [Term] id: HP:0100498 name: Deviation of toes xref: UMLS:C4022039 is_a: HP:0001780 ! Abnormality of toe created_by: doelkens creation_date: 2010-12-17T04:25:31Z [Term] id: HP:0100499 name: Tibial deviation of toes synonym: "Medial deviation of toes" EXACT [] xref: UMLS:C3806533 is_a: HP:0100498 ! Deviation of toes created_by: doelkens creation_date: 2010-12-17T04:25:59Z [Term] id: HP:0100500 name: Fibular deviation of toes synonym: "Lateral deviation of toes" EXACT [] xref: UMLS:C4020970 is_a: HP:0100498 ! Deviation of toes created_by: doelkens creation_date: 2010-12-17T04:26:14Z [Term] id: HP:0100501 name: Recurrent bronchiolitis def: "An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis." [HPO:probinson] xref: UMLS:C4015136 is_a: HP:0002837 ! Recurrent bronchitis created_by: doelkens creation_date: 2010-12-17T05:58:08Z [Term] id: HP:0100502 name: Vitamin B12 deficiency synonym: "Vitamin B12 deficiency" EXACT layperson [] xref: MSH:D014806 xref: SNOMEDCT_US:190634004 xref: UMLS:C0042847 is_a: HP:0040126 ! Abnormal vitamin B12 level created_by: doelkens creation_date: 2010-12-17T06:00:43Z [Term] id: HP:0100503 name: Low levels of vitamin B1 def: "A reduced concentration of vitamin B1." [] synonym: "Reduced blood thiamine level" EXACT [] synonym: "Vitamin B1 deficiency" EXACT layperson [] xref: MSH:D013832 xref: SNOMEDCT_US:399357009 xref: UMLS:C0039841 is_a: HP:0004340 ! Abnormality of vitamin B metabolism created_by: doelkens creation_date: 2010-12-17T06:13:04Z [Term] id: HP:0100504 name: Low levels of vitamin B2 def: "A reduced concentration of vitamin B2." [] synonym: "Riboflavin deficiency" EXACT [] synonym: "Vitamin B2 deficiency" EXACT layperson [] xref: MSH:D012257 xref: SNOMEDCT_US:20307000 xref: UMLS:C0035528 is_a: HP:0004340 ! Abnormality of vitamin B metabolism created_by: doelkens creation_date: 2010-12-17T06:13:04Z [Term] id: HP:0100505 name: Low levels of vitamin B5 def: "A reduced concentration of vitamin B5." [] synonym: "Vitamin B5 deficiency" EXACT layperson [] xref: UMLS:C4022038 is_a: HP:0004340 ! Abnormality of vitamin B metabolism created_by: doelkens creation_date: 2010-12-17T06:13:04Z [Term] id: HP:0100506 name: Low levels of vitamin B8 def: "A reduced concentration of vitamin B8." [] synonym: "Vitamin B8 deficiency" EXACT layperson [] xref: UMLS:C4022037 is_a: HP:0004340 ! Abnormality of vitamin B metabolism created_by: doelkens creation_date: 2010-12-17T06:13:04Z [Term] id: HP:0100507 name: Reduced blood folate concentration def: "A reduced circulating concentration of folic acid, which is also known as vitamin B9." [HPO:probinson] synonym: "Folate deficiency" EXACT layperson [] synonym: "Vitamin B9 deficiency" EXACT [] xref: MSH:D005494 xref: SNOMEDCT_US:190633005 xref: UMLS:C0016412 is_a: HP:0040087 ! Abnormal blood folate concentration created_by: doelkens creation_date: 2010-12-17T06:13:04Z [Term] id: HP:0100508 name: Abnormality of vitamin metabolism def: "An anomaly in the metabolism of a vitamin." [HPO:probinson] comment: Vitamins are organic substances that are essential in minute quantities and not produced within the body, instead being present in natural foodstuffs. Vitamins act as coenzymes or precursors of coenzymes in the regulation of metabolic processes. synonym: "Abnormality of vitamin metabolism" EXACT layperson [] xref: UMLS:C4022036 is_a: HP:0032245 ! Abnormal metabolism created_by: doelkens creation_date: 2010-12-17T06:17:22Z [Term] id: HP:0100509 name: Abnormality of vitamin C metabolism synonym: "Abnormality of vitamin C metabolism" EXACT layperson [] xref: UMLS:C4021863 is_a: HP:0100508 ! Abnormality of vitamin metabolism created_by: doelkens creation_date: 2010-12-17T06:18:32Z [Term] id: HP:0100510 name: Low levels of vitamin C def: "A reduced concentration of Vitamin C." [] synonym: "Vitamin C deficiency" EXACT layperson [] xref: MSH:D001206 xref: SNOMEDCT_US:76169001 xref: UMLS:C0003969 is_a: HP:0100509 ! Abnormality of vitamin C metabolism created_by: doelkens creation_date: 2010-12-17T06:18:50Z [Term] id: HP:0100511 name: Abnormality of vitamin D metabolism synonym: "Abnormality of vitamin D metabolism" EXACT layperson [] xref: UMLS:C4022035 is_a: HP:0100508 ! Abnormality of vitamin metabolism created_by: doelkens creation_date: 2010-12-17T06:19:15Z [Term] id: HP:0100512 name: Low levels of vitamin D def: "A reduced concentration of Vitamin D." [] synonym: "Deficient in vitamin D" EXACT layperson [] synonym: "Vitamin D deficiency" EXACT layperson [] xref: MSH:D014808 xref: SNOMEDCT_US:34713006 xref: UMLS:C0042870 is_a: HP:0100511 ! Abnormality of vitamin D metabolism created_by: doelkens creation_date: 2010-12-17T06:19:35Z [Term] id: HP:0100513 name: Low levels of vitamin E def: "A reduced concentration of vitamin E." [] synonym: "Alpha-tocopherol deficiency" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-9969-8610] synonym: "Vitamin E deficiency" EXACT layperson [] xref: MSH:D014811 xref: SNOMEDCT_US:54137008 xref: UMLS:C0042875 is_a: HP:0100514 ! Abnormality of vitamin E metabolism created_by: doelkens creation_date: 2010-12-17T06:20:12Z [Term] id: HP:0100514 name: Abnormality of vitamin E metabolism synonym: "Abnormality of vitamin E metabolism" EXACT layperson [] xref: UMLS:C4022034 is_a: HP:0100508 ! Abnormality of vitamin metabolism created_by: doelkens creation_date: 2010-12-17T06:20:30Z [Term] id: HP:0100515 name: Pollakisuria def: "Increased frequency of urination." [HPO:probinson] synonym: "Constant urination" BROAD layperson [] synonym: "Frequent urination" EXACT layperson [] xref: SNOMEDCT_US:162116003 xref: SNOMEDCT_US:300471006 xref: UMLS:C0042023 is_a: HP:0000009 ! Functional abnormality of the bladder created_by: doelkens creation_date: 2010-12-20T10:34:28Z [Term] id: HP:0100516 name: Neoplasm of the ureter def: "The presence of a neoplasm of the ureter." [HPO:probinson] synonym: "Neoplasia of the ureters" RELATED [] synonym: "ureter, cancer of" RELATED [] xref: MSH:D014516 xref: NCIT:C3262 xref: SNOMEDCT_US:126882009 xref: SNOMEDCT_US:363458004 xref: UMLS:C0041955 xref: UMLS:C0153619 is_a: HP:0000069 ! Abnormality of the ureter is_a: HP:0010786 ! Urinary tract neoplasm created_by: doelkens creation_date: 2010-12-20T10:35:11Z [Term] id: HP:0100517 name: Neoplasm of the urethra def: "The presence of a neoplasm of the urethra." [HPO:probinson] synonym: "Neoplasia of the urethra" RELATED [] xref: MSH:D014523 xref: NCIT:C2974 xref: SNOMEDCT_US:126883004 xref: UMLS:C0041971 is_a: HP:0000795 ! Abnormality of the urethra is_a: HP:0010786 ! Urinary tract neoplasm created_by: doelkens creation_date: 2010-12-20T10:36:17Z [Term] id: HP:0100518 name: Dysuria def: "Painful or difficult urination." [HPO:probinson] synonym: "Dull burning sensation with urination" RELATED layperson [] synonym: "Painful or difficult urination" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D053159 xref: SNOMEDCT_US:49650001 xref: UMLS:C0013428 is_a: HP:0000009 ! Functional abnormality of the bladder created_by: doelkens creation_date: 2010-12-20T10:40:36Z [Term] id: HP:0100519 name: Anuria def: "Absence of urine, clinically classified as below 50ml/day." [HPO:sdoelken] synonym: "Absent urine output" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D001002 xref: SNOMEDCT_US:2472002 xref: UMLS:C0003460 is_a: HP:0011037 ! Decreased urine output created_by: doelkens creation_date: 2010-12-20T10:41:00Z [Term] id: HP:0100520 name: Oliguria def: "Low output of urine, clinically classified as an output below 300-500ml/day." [HPO:sdoelken] comment: The decreased output of urine may be a sign of dehydration, renal failure, hypovolemic shock, multiple organ dysfunction syndrome, or urinary obstruction/urinary retention. xref: MSH:D009846 xref: SNOMEDCT_US:718403007 xref: SNOMEDCT_US:83128009 xref: UMLS:C0028961 is_a: HP:0011037 ! Decreased urine output created_by: doelkens creation_date: 2010-12-20T10:42:40Z [Term] id: HP:0100521 name: Neoplasm of the thymus def: "A tumor (abnormal growth of tissue) of the thymus." [HPO:probinson] xref: MSH:D013953 xref: NCIT:C3262 xref: SNOMEDCT_US:127231009 xref: UMLS:C3714644 is_a: HP:0000777 ! Abnormality of the thymus is_a: HP:0011793 ! Neoplasm by anatomical site created_by: doelkens creation_date: 2010-12-20T11:02:03Z [Term] id: HP:0100522 name: Thymoma def: "A tumor originating from the epithelial cells of the thymus." [HPO:sdoelken] comment: Malignant lymphomas that involve the thymus, such as lymphoblastic lymphoma and Hodgkin lymphoma (erroneously termed "granulomatous thymoma" in the past), should not be regarded as thymomas. Thymoma is an uncommon tumor, best known for its association with the neuromuscular disorder myasthenia gravis. Thymoma is found in 15% of patients with myasthenia gravis. xref: MSH:D013945 xref: NCIT:C3411 xref: SNOMEDCT_US:128856005 xref: SNOMEDCT_US:444231005 xref: UMLS:C0040100 is_a: HP:0100521 ! Neoplasm of the thymus created_by: doelkens creation_date: 2010-12-20T11:02:22Z [Term] id: HP:0100523 name: Liver abscess alt_id: HP:0001400 def: "The presence of an abscess of the liver." [HPO:probinson] synonym: "Hepatic abscess" EXACT [] synonym: "Liver abscess" EXACT layperson [] xref: MSH:D008100 xref: SNOMEDCT_US:27916005 xref: UMLS:C0023885 is_a: HP:0025615 ! Abscess is_a: HP:0410042 ! Abnormal liver morphology created_by: doelkens creation_date: 2010-12-20T11:13:14Z [Term] id: HP:0100524 name: Limb duplication def: "Congenital duplication of all or part of a limb." [] subset: hposlim_core synonym: "Dimelia" EXACT [] synonym: "Limb duplication" EXACT layperson [] xref: SNOMEDCT_US:34488005 xref: UMLS:C0265551 is_a: HP:0002813 ! Abnormality of limb bone morphology created_by: doelkens creation_date: 2010-12-20T11:32:41Z [Term] id: HP:0100525 name: Urachus fistula def: "Persistence of the urachal canal with drainage of urine from the bladder through the persistent allantois canal to the umbilicus." [Eurenomics:ewuehl] xref: SNOMEDCT_US:398320008 xref: SNOMEDCT_US:50986000 xref: UMLS:C0345344 is_a: HP:0010478 ! Abnormality of the urachus created_by: doelkens creation_date: 2010-12-20T11:40:58Z [Term] id: HP:0100526 name: Neoplasm of the lung def: "Tumor of the lung." [HPO:probinson] synonym: "Lung cancer" BROAD layperson [] synonym: "Lung tumor" EXACT layperson [] xref: MSH:D008175 xref: NCIT:C3262 xref: SNOMEDCT_US:126713003 xref: UMLS:C0024121 is_a: HP:0002088 ! Abnormal lung morphology is_a: HP:0100606 ! Neoplasm of the respiratory system created_by: doelkens creation_date: 2010-12-20T11:47:12Z [Term] id: HP:0100527 name: Neoplasia of the pleura xref: NCIT:C3262 xref: UMLS:C4022033 is_a: HP:0002103 ! Abnormality of the pleura is_a: HP:0100606 ! Neoplasm of the respiratory system created_by: doelkens creation_date: 2010-12-20T11:47:33Z [Term] id: HP:0100528 name: Pleuropulmonary blastoma def: "A rare cancer originating in the lung or pleural cavity that occurs most often in infants and young children but also has been reported in adults. Pleuropulmonary blastoma is regarded as malignant." [HPO:sdoelken] xref: MSH:C537516 xref: NCIT:C3732 xref: SNOMEDCT_US:128763002 xref: SNOMEDCT_US:707670009 xref: UMLS:C1266144 is_a: HP:0100527 ! Neoplasia of the pleura is_a: HP:0100552 ! Neoplasm of the tracheobronchial system created_by: doelkens creation_date: 2010-12-20T11:48:57Z [Term] id: HP:0100529 name: Abnormal blood phosphate concentration def: "An abnormality of phosphate homeostasis or concentration in the body." [HPO:probinson] synonym: "Abnormality of phosphate homeostasis" EXACT [] xref: UMLS:C4022032 is_a: HP:0003111 ! Abnormal blood ion concentration created_by: doelkens creation_date: 2010-12-20T11:58:32Z [Term] id: HP:0100530 name: Abnormal calcium-phosphate regulating hormone level def: "Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium." [] synonym: "Abnormal Ca-PHOS regulating hormone level" EXACT HP:0045077 [] synonym: "Abnormal Ca2+ PO4 regulating hormone level" EXACT HP:0045077 [] xref: UMLS:C4022031 is_a: HP:0003117 ! Abnormal circulating hormone level created_by: doelkens creation_date: 2010-12-20T12:00:26Z [Term] id: HP:0100531 name: Wind-swept deformity of the knees def: "The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other." [HPO:sdoelken] synonym: "Wind-swept deformity of the knees" EXACT layperson [] xref: UMLS:C4022030 is_a: HP:0002857 ! Genu valgum is_a: HP:0002970 ! Genu varum created_by: doelkens creation_date: 2010-12-20T12:43:09Z [Term] id: HP:0100532 name: Scleritis def: "Inflammation of the sclera." [HPO:probinson] comment: Scleritis may be accompanied by blurred vision, eye pain, redness of the (normally white) sclera, photophobia, and tearing. subset: hposlim_core synonym: "Inflammation of the outer white part of the eye" BROAD layperson [ORCID:0000-0001-5208-3432] xref: MSH:D015423 xref: SNOMEDCT_US:78370002 xref: UMLS:C0036416 is_a: HP:0000591 ! Abnormal sclera morphology is_a: HP:0100533 ! Inflammatory abnormality of the eye created_by: doelkens creation_date: 2010-12-20T03:50:04Z [Term] id: HP:0100533 name: Inflammatory abnormality of the eye alt_id: HP:0007891 def: "Inflammation of the eye, parts of the eye or the periorbital region." [HPO:sdoelken] synonym: "Inflammatory abnormality of the eye" EXACT layperson [] synonym: "Ocular inflammation" EXACT [] xref: UMLS:C4020969 is_a: HP:0012373 ! Abnormal eye physiology is_a: HP:0012649 ! Increased inflammatory response created_by: doelkens creation_date: 2010-12-20T03:53:42Z [Term] id: HP:0100534 name: Episcleritis def: "Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye." [HPO:probinson] comment: In contrast to conjunctivitis, with episcleritis the inflammation is generally limited to isolated parts of the sclera and is not diffuse.One can observe dilated episcleral blood vessels between regions of white sclera. subset: hposlim_core synonym: "Inflammation of the thin layer on top of the white part of eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D015423 xref: SNOMEDCT_US:815008 xref: UMLS:C0014583 is_a: HP:0000591 ! Abnormal sclera morphology is_a: HP:0100533 ! Inflammatory abnormality of the eye created_by: doelkens creation_date: 2010-12-20T05:48:22Z [Term] id: HP:0100535 name: Tibiofibular diastasis xref: UMLS:C4022029 is_a: HP:0002991 ! Abnormality of fibula morphology is_a: HP:0002992 ! Abnormality of tibia morphology created_by: doelkens creation_date: 2010-12-20T05:53:38Z [Term] id: HP:0100536 name: Abnormality of the fascia def: "An abnormality of fascia." [HPO:probinson] xref: UMLS:C4022028 is_a: HP:0003549 ! Abnormality of connective tissue created_by: doelkens creation_date: 2010-12-20T05:58:56Z [Term] id: HP:0100537 name: Fasciitis def: "Inflammation of fascia, the tissue under the skin and over the muscle." [HPO:probinson] synonym: "Inflammation of the fascia" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D005208 xref: SNOMEDCT_US:36948007 xref: UMLS:C0015645 is_a: HP:0012649 ! Increased inflammatory response is_a: HP:0100536 ! Abnormality of the fascia created_by: doelkens creation_date: 2010-12-20T05:59:18Z [Term] id: HP:0100538 name: Abnormality of the supraorbital ridges def: "An anomaly of the supraorbital portion of the frontal bones." [HPO:probinson] synonym: "Abnormality of the brow of the face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Deformity of the supraorbital margins" NARROW [ORCID:0000-0001-5889-4463] synonym: "Deformity of the supraorbital ridges" NARROW [ORCID:0000-0001-5889-4463] synonym: "Malformation of the supraorbital margins" NARROW [ORCID:0000-0001-5889-4463] synonym: "Malformation of the supraorbital ridges" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4022027 is_a: HP:0000606 ! Abnormality of the periorbital region created_by: doelkens creation_date: 2010-12-20T06:05:56Z [Term] id: HP:0100539 name: Periorbital edema def: "Edema affecting the region situated around the orbit of the eye." [HPO:probinson] synonym: "Periorbital cellulitis" EXACT [ORCID:0000-0001-5889-4463] synonym: "Periorbital swelling" EXACT [ORCID:0000-0001-5889-4463] synonym: "Puffiness around the eyes" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Puffy eyes" EXACT layperson [] synonym: "Swelling around the eyes" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:109245003 xref: SNOMEDCT_US:267041004 xref: SNOMEDCT_US:49563000 xref: UMLS:C0149754 xref: UMLS:C0151205 xref: UMLS:C0424810 is_a: HP:0000282 ! Facial edema is_a: HP:0000606 ! Abnormality of the periorbital region created_by: doelkens creation_date: 2010-12-20T06:09:04Z [Term] id: HP:0100540 name: Palpebral edema alt_id: HP:0000626 def: "Edema in the region of the eyelids." [HPO:probinson] synonym: "Edema of the eyelids" EXACT [] synonym: "Eyelid edema" EXACT [] synonym: "Fullness of eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Puffy eyelids" EXACT layperson [] synonym: "Puffy lids" EXACT layperson [] synonym: "Swelling of eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:89091004 xref: UMLS:C0162285 is_a: HP:0000492 ! Abnormal eyelid morphology is_a: HP:0100539 ! Periorbital edema created_by: doelkens creation_date: 2010-12-20T06:09:32Z [Term] id: HP:0100541 name: Femoral hernia def: "A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal." [HPO:sdoelken] comment: Femoral hernias are a relatively uncommon type, accounting for only 3% of all hernias. Femoral hernia appears as a bulge in the upper thigh. subset: hposlim_core synonym: "Crural hernia" EXACT [] xref: MEDDRA:10016434 "Femoral hernia" xref: MSH:D006550 xref: SNOMEDCT_US:50063009 xref: UMLS:C0019288 is_a: HP:0004299 ! Hernia of the abdominal wall created_by: doelkens creation_date: 2010-12-20T06:16:40Z [Term] id: HP:0100542 name: Abnormal localization of kidney def: "An abnormal site of the kidney." [HPO:probinson] synonym: "Abnormal localisation of kidneys" EXACT layperson [] xref: UMLS:C4020968 is_a: HP:0012210 ! Abnormal renal morphology created_by: doelkens creation_date: 2010-12-20T06:43:50Z [Term] id: HP:0100543 name: Cognitive impairment alt_id: HP:0002128 alt_id: HP:0002129 alt_id: HP:0002302 alt_id: HP:0002337 alt_id: HP:0002441 alt_id: HP:0006972 alt_id: HP:0006998 alt_id: HP:0007211 def: "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken] synonym: "Abnormality of cognition" EXACT layperson [] synonym: "Cognitive abnormality" EXACT layperson [] synonym: "Cognitive defects" EXACT layperson [] synonym: "Cognitive deficits" EXACT layperson [] synonym: "Cognitive impairment" EXACT layperson [] synonym: "Intellectual impairment" EXACT layperson [] synonym: "Mental impairment" EXACT layperson [] xref: MSH:D060825 xref: SNOMEDCT_US:386806002 xref: UMLS:C0338656 xref: UMLS:C0683322 is_a: HP:0011446 ! Abnormality of higher mental function created_by: doelkens creation_date: 2010-12-20T06:50:32Z [Term] id: HP:0100544 name: Neoplasm of the heart def: "A tumor (abnormal growth of tissue) of the heart." [HPO:probinson] synonym: "Cardiac neoplasia" RELATED [] synonym: "Cardiac neoplasm" EXACT [] synonym: "Heart tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D006338 xref: NCIT:C3262 xref: SNOMEDCT_US:387842002 xref: UMLS:C0018809 is_a: HP:0001627 ! Abnormal heart morphology is_a: HP:0011793 ! Neoplasm by anatomical site created_by: doelkens creation_date: 2010-12-20T07:00:31Z [Term] id: HP:0100545 name: Arterial stenosis def: "Narrowing or constriction of the inner surface (lumen) of an artery." [HPO:probinson] synonym: "Narrowing of an artery" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:68109007 xref: UMLS:C0038449 is_a: HP:0011004 ! Abnormal systemic arterial morphology created_by: doelkens creation_date: 2010-12-21T01:30:07Z [Term] id: HP:0100546 name: Carotid artery stenosis def: "Narrowing of the carotid arteries." [HPO:probinson] comment: Carotid artery stenosis is usually caused by caused by atherosclerosis. synonym: "Carotid stenosis" EXACT [] synonym: "Narrowing of carotid artery" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D016893 xref: SNOMEDCT_US:64586002 xref: UMLS:C0007282 is_a: HP:0005344 ! Abnormal carotid artery morphology is_a: HP:0100545 ! Arterial stenosis created_by: doelkens creation_date: 2010-12-21T01:31:46Z [Term] id: HP:0100547 name: Abnormality of forebrain morphology def: "An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle." [HPO:probinson] synonym: "Abnormal shape of forebrain" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the forebrain" EXACT [] xref: UMLS:C4020967 is_a: HP:0012443 ! Abnormality of brain morphology created_by: doelkens creation_date: 2010-12-21T02:12:53Z [Term] id: HP:0100548 name: Exstrophy def: "Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall." [HPO:probinson] xref: SNOMEDCT_US:110407002 xref: UMLS:C0015338 is_a: HP:0004298 ! Abnormality of the abdominal wall created_by: doelkens creation_date: 2010-12-21T02:20:01Z [Term] id: HP:0100550 name: Tendon rupture def: "Breakage (tear) of a tendon." [HPO:probinson] comment: Tendon rupture is usually painful,and accompanied by swelling, inability to move, and bunching up of the muscle normally attached to the tendon. synonym: "Rupture of tendons" EXACT layperson [] synonym: "Ruptured tendon" EXACT layperson [] synonym: "Tendon rupture" EXACT layperson [] xref: SNOMEDCT_US:415749005 xref: UMLS:C0151937 is_a: HP:0100261 ! Abnormal tendon morphology created_by: doelkens creation_date: 2010-12-21T02:58:13Z [Term] id: HP:0100551 name: Neoplasm of the trachea alt_id: HP:0012291 def: "A neoplasm of the trachea." [] synonym: "Tracheal neoplasm" EXACT [] xref: MSH:D014134 xref: NCIT:C3262 xref: SNOMEDCT_US:126703006 xref: UMLS:C0040582 is_a: HP:0002778 ! Abnormal trachea morphology is_a: HP:0100552 ! Neoplasm of the tracheobronchial system created_by: doelkens creation_date: 2010-12-21T03:44:37Z [Term] id: HP:0100552 name: Neoplasm of the tracheobronchial system xref: NCIT:C3262 xref: UMLS:C4022026 is_a: HP:0005607 ! Abnormal tracheobronchial morphology is_a: HP:0100526 ! Neoplasm of the lung created_by: doelkens creation_date: 2010-12-21T03:46:30Z [Term] id: HP:0100553 name: Hemihypertrophy of lower limb def: "Overgrowth of only one leg." [HPO:probinson] synonym: "Overgrowth of one leg" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:205369009 xref: UMLS:C0431928 is_a: HP:0001528 ! Hemihypertrophy is_a: HP:0010496 ! Hypertrophy of the lower limb is_a: HP:0100559 ! Lower limb asymmetry created_by: doelkens creation_date: 2010-12-21T03:58:40Z [Term] id: HP:0100554 name: Hemihypertrophy of upper limb def: "Overgrowth of only one arm." [HPO:probinson] synonym: "Overgrowth of one arm" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:253920006 xref: UMLS:C0431810 is_a: HP:0001528 ! Hemihypertrophy is_a: HP:0010484 ! Hypertrophy of the upper limb is_a: HP:0100560 ! Upper limb asymmetry created_by: doelkens creation_date: 2010-12-21T03:58:55Z [Term] id: HP:0100555 name: Asymmetric growth def: "A growth pattern that displays an abnormal difference between the left and the right side." [HPO:probinson] synonym: "Uneven or disproportionate growth of one body part compared to another" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: UMLS:C4022025 is_a: HP:0001507 ! Growth abnormality created_by: doelkens creation_date: 2010-12-21T04:00:12Z [Term] id: HP:0100556 name: Hemiatrophy alt_id: HP:0005091 alt_id: HP:0200051 def: "Undergrowth of the limbs that affects only one side." [DDD:hfirth] synonym: "Asymmetric limb shortening" EXACT layperson [] synonym: "Hemiatrophy of the body" EXACT [] xref: SNOMEDCT_US:34087007 xref: UMLS:C0333662 is_a: HP:0009826 ! Limb undergrowth is_a: HP:0100555 ! Asymmetric growth created_by: doelkens creation_date: 2010-12-21T04:01:10Z [Term] id: HP:0100557 name: Hemiatrophy of lower limb def: "Unilateral atrophy (reduction in size) of a leg." [HPO:probinson] synonym: "Asymmetric lower limb shortening" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:709411004 xref: UMLS:C0431934 is_a: HP:0100556 ! Hemiatrophy is_a: HP:0100559 ! Lower limb asymmetry created_by: doelkens creation_date: 2010-12-21T04:01:28Z [Term] id: HP:0100558 name: Hemiatrophy of upper limb alt_id: HP:0200052 def: "Unilateral atrophy (reduction in size) of an arm." [HPO:probinson] synonym: "Asymmetric upper limb shortening" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Hemihypotrophy of upper limb" EXACT [] xref: SNOMEDCT_US:253921005 xref: UMLS:C0431814 is_a: HP:0100556 ! Hemiatrophy is_a: HP:0100560 ! Upper limb asymmetry created_by: doelkens creation_date: 2010-12-21T04:01:48Z [Term] id: HP:0100559 name: Lower limb asymmetry def: "A difference in length or diameter between the left and right leg." [HPO:probinson] synonym: "Left and right leg differ in length or width" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Leg length discrepancy" RELATED layperson [] xref: MSH:D007870 xref: SNOMEDCT_US:45939007 xref: UMLS:C0023221 is_a: HP:0002814 ! Abnormality of the lower limb is_a: HP:0100555 ! Asymmetric growth created_by: doelkens creation_date: 2010-12-21T04:04:27Z [Term] id: HP:0100560 name: Upper limb asymmetry def: "Difference in length or size between the right and left arm." [HPO:probinson] subset: hposlim_core synonym: "Unequal size of arms" EXACT layperson [ORCID:0000-0002-6548-5200] xref: UMLS:C4022024 is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0100555 ! Asymmetric growth created_by: doelkens creation_date: 2010-12-21T04:04:56Z [Term] id: HP:0100561 name: Spinal cord lesion xref: UMLS:C0241224 is_a: HP:0002143 ! Abnormality of the spinal cord created_by: doelkens creation_date: 2010-12-21T04:34:03Z [Term] id: HP:0100562 name: Diplomyelia def: "Duplication of the spinal cord." [HPO:sdoelken] synonym: "Duplication of spinal cord" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:360527003 xref: UMLS:C1260890 is_a: HP:0100561 ! Spinal cord lesion created_by: doelkens creation_date: 2010-12-21T04:35:22Z [Term] id: HP:0100563 name: Diastomatomyelia def: "Coexistence of two hemicords, at variable levels, causing splaying of the posterior vertebral elements. Results in neurological deficits in lower limb or perineum." [HPO:sdoelken] xref: UMLS:C4022023 is_a: HP:0100561 ! Spinal cord lesion created_by: doelkens creation_date: 2010-12-21T04:35:22Z [Term] id: HP:0100564 name: Triplomyelia def: "Triplication of the spinal cord - extremely rare." [HPO:sdoelken] synonym: "Triplication of spinal cord" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022022 is_a: HP:0100561 ! Spinal cord lesion created_by: doelkens creation_date: 2010-12-21T04:35:22Z [Term] id: HP:0100565 name: Hydromyelia def: "Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo." [HPO:sdoelken] xref: SNOMEDCT_US:11197005 xref: SNOMEDCT_US:74740003 xref: UMLS:C0152444 is_a: HP:0100561 ! Spinal cord lesion created_by: doelkens creation_date: 2010-12-21T04:35:22Z [Term] id: HP:0100566 name: Amyelia def: "Congenital absence of the spinal cord." [HPO:sdoelken] synonym: "Absent spinal cord" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:78784005 xref: UMLS:C0266510 is_a: HP:0100561 ! Spinal cord lesion created_by: doelkens creation_date: 2010-12-21T04:41:35Z [Term] id: HP:0100568 name: Neoplasm of the endocrine system def: "A tumor (abnormal growth of tissue) of the endocrine system." [HPO:probinson] synonym: "Endocrine neoplasia" EXACT [] xref: MSH:D004701 xref: NCIT:C3262 xref: SNOMEDCT_US:387922007 xref: SNOMEDCT_US:387927001 xref: UMLS:C0014132 is_a: HP:0000818 ! Abnormality of the endocrine system is_a: HP:0011793 ! Neoplasm by anatomical site created_by: doelkens creation_date: 2010-12-21T04:55:15Z [Term] id: HP:0100569 name: Abnormally ossified vertebrae def: "An abnormality of the formation and mineralization of one or more vertebrae." [HPO:probinson] synonym: "Abnormal bone maturation of vertebra" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormal vertebral ossification" EXACT [] synonym: "Abnormality of ossification/mineralisation of vertebrae" EXACT [] xref: UMLS:C4020966 is_a: HP:0003336 ! Abnormal enchondral ossification is_a: HP:0003468 ! Abnormal vertebral morphology created_by: doelkens creation_date: 2010-12-21T04:50:43Z [Term] id: HP:0100570 name: Carcinoid tumor def: "A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin." [HPO:sdoelkens] synonym: "Carcinoid" EXACT [] synonym: "Carcinoid tumors" RELATED [HPO:skoehler] xref: MSH:D002276 xref: SNOMEDCT_US:189607006 xref: SNOMEDCT_US:443492008 xref: UMLS:C0007095 is_a: HP:0100634 ! Neuroendocrine neoplasm created_by: doelkens creation_date: 2010-12-21T04:57:15Z [Term] id: HP:0100571 name: Cardiac diverticulum def: "A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular." [HPO:sdoelken] synonym: "Ventricular diverticulum" EXACT [] xref: UMLS:C4020965 is_a: HP:0001713 ! Abnormal cardiac ventricle morphology created_by: doelkens creation_date: 2010-12-21T05:11:26Z [Term] id: HP:0100572 name: Fibrous cardiac diverticulum def: "A fibrous cardiac diverticulum refers to an aneurysm and usually appears as an isolated congenital anomaly." [HPO:sdoelken] synonym: "Congenital ventricular aneurysm" EXACT [] xref: UMLS:C4020964 is_a: HP:0006698 ! Dilatation of the ventricular cavity is_a: HP:0100571 ! Cardiac diverticulum created_by: doelkens creation_date: 2010-12-21T05:14:00Z [Term] id: HP:0100573 name: Muscular cardiac diverticulum xref: UMLS:C4022021 is_a: HP:0100571 ! Cardiac diverticulum created_by: doelkens creation_date: 2010-12-21T05:14:00Z [Term] id: HP:0100574 name: Biliary tract neoplasm alt_id: HP:0030152 def: "A tumor (abnormal growth of tissue) of the biliary system." [HPO:probinson] synonym: "Neoplasia of the biliary tract" RELATED [] xref: MSH:D001661 xref: NCIT:C3262 xref: SNOMEDCT_US:126853008 xref: UMLS:C0005426 xref: UMLS:C4020709 is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract is_a: HP:0012440 ! Abnormal biliary tract morphology created_by: doelkens creation_date: 2010-12-21T05:18:27Z [Term] id: HP:0100575 name: Neoplasm of the gallbladder def: "The presence of a neoplasm of the gallbladder." [HPO:probinson] synonym: "Neoplasia of the gallbladder" RELATED [] xref: MSH:D005706 xref: NCIT:C3262 xref: SNOMEDCT_US:126854002 xref: UMLS:C0016978 xref: UMLS:C4020708 is_a: HP:0012437 ! Abnormal gallbladder morphology is_a: HP:0100574 ! Biliary tract neoplasm created_by: doelkens creation_date: 2010-12-21T05:18:44Z [Term] id: HP:0100576 name: Amaurosis fugax def: "A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition." [HPO:sdoelken] subset: hposlim_core xref: MSH:D020757 xref: SNOMEDCT_US:88032003 xref: UMLS:C0149793 is_a: HP:0000504 ! Abnormality of vision created_by: doelkens creation_date: 2010-12-27T12:42:59Z [Term] id: HP:0100577 name: Urinary bladder inflammation def: "Inflammation of the urinary bladder." [HPO:probinson] synonym: "Cystitis of the urinary bladder" EXACT [] synonym: "Urinary bladder inflammation" EXACT layperson [] xref: MSH:D003556 xref: SNOMEDCT_US:38822007 xref: UMLS:C0010692 is_a: HP:0012649 ! Increased inflammatory response is_a: HP:0025487 ! Abnormality of bladder morphology created_by: doelkens creation_date: 2010-12-27T12:49:16Z [Term] id: HP:0100578 name: Lipoatrophy def: "Localized loss of fat tissue." [HPO:sdoelken] comment: This may occur as a result of subcutanous injections of insulin in the treatment of diabetes, from the use of human growth hormone or from subcutanous injections of Copaxone used for the treatment of multiple sclerosis. In the latter case, an injection may produce a small dent at the injection site. Lipoatrophy is also an adverse drug reaction that is associated with some antiretroviral drugs. subset: hposlim_core synonym: "Atrophy of fat" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Loss of fat tissue in localized area" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MEDDRA:10024604 "Lipoatrophy" xref: SNOMEDCT_US:248315005 xref: UMLS:C1280433 is_a: HP:0009125 ! Lipodystrophy created_by: doelkens creation_date: 2010-12-27T12:55:33Z [Term] id: HP:0100579 name: Mucosal telangiectasiae def: "Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs." [HPO:sdoelken] xref: UMLS:C4022020 is_a: HP:0001009 ! Telangiectasia created_by: doelkens creation_date: 2010-12-27T01:04:18Z [Term] id: HP:0100580 name: Barrett esophagus def: "An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system." [HPO:sdoelken] comment: The medical significance of Barrett esophagus is its strong association with esophageal adenocarcinoma, a particularly lethal cancer. synonym: "Barret syndrome" EXACT [ORCID:0000-0001-5208-3432] synonym: "Barrett's esophagus" EXACT [] synonym: "Endobrachyesophagus" EXACT [] xref: MSH:D001471 xref: SNOMEDCT_US:302914006 xref: UMLS:C0004763 is_a: HP:0100751 ! Esophageal neoplasm created_by: doelkens creation_date: 2010-12-27T01:33:00Z [Term] id: HP:0100581 name: Dilatation of renal calices def: "An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine." [HPO:sdoelken] synonym: "Caliceal dilatation" EXACT [] synonym: "Caliectasis" EXACT [] synonym: "Megacalicosis" RELATED [] xref: UMLS:C4022019 is_a: HP:0011130 ! Abnormal renal calyx morphology created_by: doelkens creation_date: 2010-12-27T02:44:04Z [Term] id: HP:0100582 name: Nasal polyposis alt_id: HP:0000462 def: "Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis." [HPO:sdoelken] synonym: "Nasal polyps" EXACT [] synonym: "Polys of nose" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:D009298 xref: SNOMEDCT_US:52756005 xref: UMLS:C0027430 is_a: HP:0000433 ! Abnormality of the nasal mucosa created_by: doelkens creation_date: 2010-12-27T02:47:15Z [Term] id: HP:0100583 name: Corneal perforation alt_id: HP:0100793 def: "A rupture of the cornea through which a portion of the iris protrudes." [DDD:ncarter] synonym: "Iridocele" EXACT [] xref: MSH:D057112 xref: SNOMEDCT_US:74895004 xref: UMLS:C0339293 xref: UMLS:C0948060 is_a: HP:0000481 ! Abnormal cornea morphology created_by: doelkens creation_date: 2010-12-27T02:52:19Z [Term] id: HP:0100584 name: Endocarditis def: "An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves." [HPO:sdoelken] xref: MSH:D004696 xref: SNOMEDCT_US:56819008 xref: UMLS:C0014118 is_a: HP:0004306 ! Abnormal endocardium morphology is_a: HP:0012649 ! Increased inflammatory response created_by: doelkens creation_date: 2010-12-27T02:57:48Z [Term] id: HP:0100585 name: Telangiectasia of the skin def: "Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions." [HPO:probinson] synonym: "Teleangiectasia of the skin" EXACT [] xref: UMLS:C4022018 is_a: HP:0001009 ! Telangiectasia created_by: doelkens creation_date: 2010-12-27T03:06:35Z [Term] id: HP:0100586 name: Aseptic leukocyturia def: "Leukocyturia without bacterial growth upon urine culture." [HPO:probinson] xref: UMLS:C4022017 is_a: HP:0012085 ! Pyuria created_by: doelkens creation_date: 2010-12-27T03:09:12Z [Term] id: HP:0100587 name: Abnormality of the preputium xref: UMLS:C4022016 is_a: HP:0000036 ! Abnormality of the penis created_by: doelkens creation_date: 2010-12-27T03:13:07Z [Term] id: HP:0100588 name: Paraphimosis def: "The foreskin becomes trapped behind the glans penis, and cannot be pulled back to its normal flaccid position covering the glans penis." [HPO:sdoelken] xref: MSH:D010263 xref: SNOMEDCT_US:13758004 xref: UMLS:C0030483 is_a: HP:0100587 ! Abnormality of the preputium created_by: doelkens creation_date: 2010-12-27T03:13:30Z [Term] id: HP:0100589 name: Urogenital fistula def: "The presence of a fistula affecting the genitourinary system." [HPO:probinson] xref: UMLS:C0853877 is_a: HP:0000119 ! Abnormality of the genitourinary system created_by: doelkens creation_date: 2010-12-27T04:09:23Z [Term] id: HP:0100590 name: Rectal fistula def: "The presence of a fistula affecting the rectum." [HPO:probinson] xref: MSH:D012003 xref: SNOMEDCT_US:80736008 xref: UMLS:C0034884 is_a: HP:0002034 ! Abnormality of the rectum is_a: HP:0100589 ! Urogenital fistula is_a: HP:0100819 ! Intestinal fistula created_by: doelkens creation_date: 2010-12-27T04:11:26Z [Term] id: HP:0100592 name: Peritoneal abscess def: "The presence of an abscess of the peritoneum." [HPO:probinson] xref: SNOMEDCT_US:73962000 xref: UMLS:C0267756 is_a: HP:0002585 ! Abnormality of the peritoneum is_a: HP:0025615 ! Abscess created_by: doelkens creation_date: 2010-12-27T04:30:53Z [Term] id: HP:0100593 name: Calcification of cartilage xref: UMLS:C4022015 is_a: HP:0002763 ! Abnormal cartilage morphology is_a: HP:0010766 ! Ectopic calcification created_by: doelkens creation_date: 2010-12-27T04:35:28Z [Term] id: HP:0100594 name: Esophageal web def: "Thin (2-3mm) membranes of normal esophageal tissue consisting of mucosa and submucosa that can be congenital or acquired. Congenital webs commonly appear in the middle and inferior third of the esophagus, and they are more likely to be circumferential with a central or eccentric orifice. Acquired webs are much more common than congenital webs and typically appear in the cervical area (postcricoid). Clinical symptoms of this condition are selective (solid more than liquids) dysphagia, thoracic pain, nasopharyngeal reflux, aspiration, perforation and food impaction (the last two are very rare)." [HPO:sdoelken] subset: hposlim_core xref: SNOMEDCT_US:19216006 xref: SNOMEDCT_US:22395006 xref: UMLS:C0267080 is_a: HP:0002031 ! Abnormal esophagus morphology created_by: doelkens creation_date: 2010-12-27T04:51:07Z [Term] id: HP:0100595 name: Camptocormia def: "An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders." [HPO:sdoelken] subset: hposlim_core xref: MSH:C537968 xref: SNOMEDCT_US:13534001 xref: UMLS:C0264162 is_a: HP:0010674 ! Abnormality of the curvature of the vertebral column created_by: doelkens creation_date: 2010-12-27T04:55:11Z [Term] id: HP:0100596 name: Absent nares alt_id: HP:0100597 def: "The nostrils (the paired channels of the nose) are not present." [HPO:probinson] synonym: "Abouphalia" EXACT [] synonym: "Aplasia of the nares" EXACT [] synonym: "Aplasia/Hypoplasia of the nares" RELATED [] synonym: "Missing nostrils" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4020707 xref: UMLS:C4020963 is_a: HP:0005288 ! Abnormality of the nares created_by: doelkens creation_date: 2010-12-27T05:07:16Z [Term] id: HP:0100598 name: Pulmonary edema def: "Fluid accumulation in the lungs." [HPO:sdoelken] synonym: "Excess fluid in lungs" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Lung edema" EXACT [] synonym: "Pulmonary oedema" EXACT [] synonym: "Wet lung" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D011654 xref: SNOMEDCT_US:19242006 xref: UMLS:C0034063 is_a: HP:0000969 ! Edema is_a: HP:0002088 ! Abnormal lung morphology created_by: doelkens creation_date: 2010-12-27T05:10:09Z [Term] id: HP:0100599 name: Bifid penis def: "Two penile structures, separated from the tip to the base of the shaft." [HPO:sdoelken, pmid:23650202] comment: In individuals with complete duplication often one will find Hypospadias, Epispadias, Bladder exstrophy, or Bifid scrotum, which should be coded separately, as well as urinary tract duplications, renal anomalies, and gastrointestinal duplications. The terms indicate the presence of (part of) two penises, but do not indicate whether they are caused by splitting or double formation. synonym: "Diphallia" EXACT [] synonym: "Penile duplication" EXACT layperson [] xref: SNOMEDCT_US:253851000 xref: UMLS:C0345322 is_a: HP:0000036 ! Abnormality of the penis created_by: doelkens creation_date: 2010-12-27T05:17:57Z [Term] id: HP:0100600 name: Penoscrotal transposition def: "A partial or complete positional exchange between the penis and the scrotum, with positioning of the scrotum superior to the penis." [HPO:sdoelken] synonym: "Prepenile scrotum" EXACT [] xref: MSH:C536650 xref: SNOMEDCT_US:312005008 xref: UMLS:C1868854 is_a: HP:0000036 ! Abnormality of the penis is_a: HP:0000045 ! Abnormality of the scrotum created_by: doelkens creation_date: 2010-12-27T05:19:57Z [Term] id: HP:0100601 name: Eclampsia def: "An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders." [HPO:sdoelken] xref: MSH:D004461 xref: SNOMEDCT_US:15938005 xref: UMLS:C0013537 is_a: HP:0100603 ! Toxemia of pregnancy created_by: doelkens creation_date: 2010-12-27T05:26:33Z [Term] id: HP:0100602 name: Preeclampsia def: "Pregnancy-induced hypertension in association with significant amounts of protein in the urine." [HPO:sdoelken] synonym: "Pre-eclampsia" EXACT [] xref: MSH:D011225 xref: SNOMEDCT_US:15394000 xref: SNOMEDCT_US:398254007 xref: UMLS:C0032914 is_a: HP:0100603 ! Toxemia of pregnancy created_by: doelkens creation_date: 2010-12-27T05:26:57Z [Term] id: HP:0100603 name: Toxemia of pregnancy def: "Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia." [HPO:sdoelken] synonym: "Hypertensive disorder of pregnancy" EXACT [] xref: MSH:D011225 xref: SNOMEDCT_US:15394000 xref: SNOMEDCT_US:398254007 xref: UMLS:C0032914 is_a: HP:0002686 ! Prenatal maternal abnormality created_by: doelkens creation_date: 2010-12-27T05:27:41Z [Term] id: HP:0100604 name: Neoplasm of the lip def: "A tumor (abnormal growth of tissue) of the lip." [HPO:probinson] synonym: "Lip tumor" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Neoplasia of the lip" RELATED [] synonym: "Tumor of the lip" RELATED layperson [] xref: MSH:D008048 xref: NCIT:C3262 xref: SNOMEDCT_US:126770008 xref: UMLS:C0023761 xref: UMLS:C4020706 is_a: HP:0000159 ! Abnormal lip morphology is_a: HP:0011793 ! Neoplasm by anatomical site created_by: doelkens creation_date: 2010-12-27T05:46:46Z [Term] id: HP:0100605 name: Neoplasm of the larynx xref: MSH:D007822 xref: NCIT:C3262 xref: SNOMEDCT_US:126692004 xref: UMLS:C0023055 is_a: HP:0001600 ! Abnormality of the larynx is_a: HP:0100606 ! Neoplasm of the respiratory system created_by: doelkens creation_date: 2010-12-27T06:07:16Z [Term] id: HP:0100606 name: Neoplasm of the respiratory system def: "A tumor (abnormal growth of tissue) of the respiratory system." [HPO:probinson] synonym: "Respiratory system tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D012142 xref: NCIT:C3262 xref: SNOMEDCT_US:126667002 xref: SNOMEDCT_US:448708002 xref: UMLS:C0035244 is_a: HP:0002086 ! Abnormality of the respiratory system is_a: HP:0011793 ! Neoplasm by anatomical site created_by: doelkens creation_date: 2010-12-27T06:08:41Z [Term] id: HP:0100607 name: Dysmenorrhea def: "Pain during menstruation that interferes with daily activities." [PMID:15686299] synonym: "Painful menstruation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D004412 xref: SNOMEDCT_US:266599000 xref: SNOMEDCT_US:289900009 xref: SNOMEDCT_US:431416001 xref: UMLS:C0013390 is_a: HP:0000858 ! Menstrual irregularities created_by: doelkens creation_date: 2010-12-27T06:13:30Z [Term] id: HP:0100608 name: Metrorrhagia def: "Bleeding at irregular intervals." [pmid:22594864] synonym: "Abnormal uterus bleeding" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Intermenstrual bleeding" EXACT [ORCID:0000-0001-5208-3432, PMID:28499529] synonym: "Menstrual spotting" EXACT [ORCID:0000-0001-5208-3432, PMID:28499529] xref: MSH:D008796 xref: SNOMEDCT_US:19155002 xref: SNOMEDCT_US:237130006 xref: SNOMEDCT_US:64996003 xref: UMLS:C0025874 is_a: HP:0000140 ! Abnormality of the menstrual cycle created_by: doelkens creation_date: 2010-12-27T06:14:01Z [Term] id: HP:0100609 name: obsolete Hypermenorrhea is_obsolete: true replaced_by: HP:0000132 [Term] id: HP:0100610 name: Maternal hyperphenylalaninemia def: "A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy." [HPO:probinson] synonym: "High blood phenylalanine level in mother" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022014 is_a: HP:0002686 ! Prenatal maternal abnormality is_a: HP:0010893 ! Abnormal circulating phenylalanine concentration created_by: doelkens creation_date: 2010-12-27T06:17:13Z [Term] id: HP:0100611 name: Multiple glomerular cysts def: "The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule." [Eurenomics:fschaefer, pmid:20091054, PMID:20367310] comment: Glomerular cysts, defined as Bowman space dilatation greater than 2 to 3 times normal size, are found in disorders of diverse etiology and with a spectrum of clinical manifestations. The term glomerulocystic kidney refers to a kidney with greater than 5% cystic glomeruli. synonym: "Glomerulocystic kidney disease" RELATED [] xref: UMLS:C4020705 xref: UMLS:C4022013 is_a: HP:0000095 ! Abnormality of renal glomerulus morphology created_by: doelkens creation_date: 2010-12-28T10:23:07Z [Term] id: HP:0100612 name: Odontogenic neoplasm def: "Neoplasm involving odontogenic cells, an odontogenic tumor." [HPO:sdoelken] comment: Examples for odontogenic neoplasia are Adenomatoid odontogenic tumors, Ameloblastomas, Calcifying epithelial odontogenic tumors, Calcifying odontogenic cysts, Dentigerous cysts, Odontogenic keratocysts, Dontogenic myxomas, Odontomas. subset: hposlim_core synonym: "Odontogenic tumor" EXACT [] xref: MSH:D009808 xref: NCIT:C3286 xref: SNOMEDCT_US:127578009 xref: SNOMEDCT_US:3833004 xref: UMLS:C0028880 is_a: HP:0000164 ! Abnormality of the dentition is_a: HP:0100649 ! Neoplasm of the oral cavity created_by: doelkens creation_date: 2010-12-28T11:03:36Z [Term] id: HP:0100613 name: Death in early adulthood def: "Death between the age of 16 and 40 years." [HPO:probinson] synonym: "Death in early adulthood" EXACT layperson [] xref: UMLS:C4022012 is_a: HP:0011420 ! Age of death created_by: doelkens creation_date: 2010-12-28T11:12:21Z [Term] id: HP:0100614 name: Myositis def: "A general term for inflammation of the muscles without respect to the underlying cause." [HPO:sdoelken] comment: Many such conditions are considered likely to be caused by autoimmune conditions, rather than directly due to infection, although autoimmune conditions can be activated or exacerbated by infections. It is also a documented side effect of the lipid-lowering drugs such as statins and fibrates. Elevation of creatine kinase in blood is indicative of myositis. synonym: "Muscle inflammation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D009220 xref: SNOMEDCT_US:128496001 xref: SNOMEDCT_US:26889001 xref: UMLS:C0027121 is_a: HP:0011805 ! Abnormal muscle morphology is_a: HP:0012649 ! Increased inflammatory response created_by: doelkens creation_date: 2010-12-28T11:14:59Z [Term] id: HP:0100615 name: Ovarian neoplasm def: "A tumor (abnormal growth of tissue) of the ovary." [HPO:probinson] synonym: "Neoplasm of the ovaries" EXACT [] synonym: "Neoplasm of the ovary" EXACT [] synonym: "Ovarian cancer" BROAD layperson [] synonym: "Ovarian neoplasia" RELATED [] synonym: "Ovarian tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D010051 xref: NCIT:C3262 xref: SNOMEDCT_US:123843001 xref: UMLS:C0919267 is_a: HP:0000137 ! Abnormality of the ovary is_a: HP:0010785 ! Gonadal neoplasm created_by: doelkens creation_date: 2010-12-28T11:37:01Z [Term] id: HP:0100616 name: Testicular teratoma def: "The presence of a teratoma of the testis." [HPO:sdoelken] comment: An encapsulated tumor of the testis with tissue or organ components resembling normal derivatives of all three germ layers. xref: MSH:C562472 xref: NCIT:C3403 xref: UMLS:C0238451 is_a: HP:0009792 ! Teratoma is_a: HP:0010788 ! Testicular neoplasm created_by: doelkens creation_date: 2010-12-28T11:42:18Z [Term] id: HP:0100617 name: Testicular seminoma def: "The presence of a seminoma, an undifferentiated germ cell tumor of the testis." [HPO:sdoelken] xref: MSH:D018239 xref: NCIT:C9309 xref: SNOMEDCT_US:255107005 xref: SNOMEDCT_US:36741007 xref: SNOMEDCT_US:443675005 xref: UMLS:C0036631 is_a: HP:0010788 ! Testicular neoplasm is_a: HP:0100620 ! Germinoma created_by: doelkens creation_date: 2010-12-28T11:42:18Z [Term] id: HP:0100618 name: Leydig cell neoplasia def: "The presence of a neoplasm of the testis with origin in a Leydig cell." [HPO:probinson] xref: NCIT:C3188 xref: UMLS:C4022011 is_a: HP:0010788 ! Testicular neoplasm is_a: HP:0010789 ! Abnormality of the Leydig cells created_by: doelkens creation_date: 2010-12-28T11:42:18Z [Term] id: HP:0100619 name: Sertoli cell neoplasm def: "The presence of a neoplasm of the testis with origin in a Sertoli cell." [HPO:probinson] synonym: "Sertoli cell neoplasia" RELATED [] xref: NCIT:C39976 xref: UMLS:C4020704 is_a: HP:0010788 ! Testicular neoplasm created_by: doelkens creation_date: 2010-12-28T11:42:18Z [Term] id: HP:0100620 name: Germinoma def: "A type of undifferentiated germ cell tumor that may be benign or malignant." [HPO:sdoelken] xref: MSH:D018237 xref: SNOMEDCT_US:28307001 xref: UMLS:C0206660 is_a: HP:0100728 ! Germ cell neoplasia created_by: doelkens creation_date: 2010-12-28T11:45:44Z [Term] id: HP:0100621 name: Dysgerminoma def: "The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary." [HPO:sdoelken] xref: MSH:D004407 xref: NCIT:C2996 xref: SNOMEDCT_US:60718004 xref: UMLS:C0013377 is_a: HP:0100615 ! Ovarian neoplasm is_a: HP:0100620 ! Germinoma created_by: doelkens creation_date: 2010-12-28T11:47:47Z [Term] id: HP:0100622 name: Maternal seizures xref: UMLS:C4022010 is_a: HP:0002686 ! Prenatal maternal abnormality created_by: doelkens creation_date: 2010-12-28T12:03:21Z [Term] id: HP:0100623 name: Abnormality of corpus cavernosum xref: UMLS:C4022009 is_a: HP:0000036 ! Abnormality of the penis created_by: doelkens creation_date: 2010-12-28T12:47:15Z [Term] id: HP:0100624 name: Corpus cavernosum sclerosis xref: UMLS:C4022008 is_a: HP:0100623 ! Abnormality of corpus cavernosum created_by: doelkens creation_date: 2010-12-28T12:47:33Z [Term] id: HP:0100625 name: Enlarged thorax synonym: "Wide rib cage" EXACT layperson [] synonym: "Wide thorax" EXACT [] xref: UMLS:C4020962 is_a: HP:0001547 ! Abnormality of the rib cage created_by: doelkens creation_date: 2010-12-28T04:14:55Z [Term] id: HP:0100626 name: Chronic hepatic failure synonym: "Chronic liver failure" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D058625 xref: SNOMEDCT_US:235886005 xref: UMLS:C2936476 is_a: HP:0001399 ! Hepatic failure created_by: doelkens creation_date: 2010-12-28T04:59:16Z [Term] id: HP:0100627 name: Displacement of the urethral meatus def: "A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina)." [HPO:sdoelken] comment: Congenital misplacement of the urethral orifice is called hypospadias when it is located in the underside (ventral aspect) of the penis, and epispadias when located in the dorsum (upper aspect). synonym: "Displacement of the external urethral orifice" EXACT [] synonym: "Displacement of the male external urethral orifice" EXACT [] xref: UMLS:C4020961 is_a: HP:0000795 ! Abnormality of the urethra is_a: HP:0032076 ! Abnormal male urethral meatus morphology created_by: doelkens creation_date: 2010-12-28T05:02:59Z [Term] id: HP:0100628 name: Esophageal diverticulum def: "The presence of a diverticulum of the esophagus." [HPO:probinson] comment: A diverticulum is a blind ended outpouching through the wall of a tubular organ or bounded cavity. synonym: "Esophageal pouch" EXACT [] xref: MSH:D004936 xref: SNOMEDCT_US:204667006 xref: SNOMEDCT_US:414133009 xref: UMLS:C0014854 is_a: HP:0002031 ! Abnormal esophagus morphology created_by: doelkens creation_date: 2010-12-29T02:22:08Z [Term] id: HP:0100629 name: Midline facial cleft def: "A congenital malformation with a cleft (gap or opening) in the midline of the face." [HPO:probinson] comment: Midline facial clefts correspond to Tessier number 0,14, and 30. synonym: "Midline facial cleft" EXACT layperson [] synonym: "Tessier facial cleft number 0" EXACT [ORCID:0000-0001-5889-4463] synonym: "Tessier facial cleft number 14" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4022007 is_a: HP:0002006 ! Facial cleft created_by: doelkens creation_date: 2010-12-29T02:23:01Z [Term] id: HP:0100630 name: Neoplasia of the nasopharynx synonym: "Nasopharyngeal neoplasm" EXACT [] synonym: "Neoplasm of the nasopharynx" EXACT [] synonym: "Tumor of the nasopharynx" NARROW [ORCID:0000-0001-5889-4463] xref: MSH:D009303 xref: NCIT:C3262 xref: SNOMEDCT_US:126680004 xref: UMLS:C0027439 is_a: HP:0001739 ! Abnormality of the nasopharynx is_a: HP:0100606 ! Neoplasm of the respiratory system created_by: doelkens creation_date: 2010-12-29T02:23:48Z [Term] id: HP:0100631 name: Neoplasm of the adrenal gland def: "A tumor (abnormal growth of tissue) of the adrenal gland." [DDD:rscott] synonym: "Adrenal neoplasia" EXACT [] xref: MSH:D000310 xref: NCIT:C3262 xref: SNOMEDCT_US:127021009 xref: UMLS:C0001624 is_a: HP:0011732 ! Abnormality of adrenal morphology is_a: HP:0100568 ! Neoplasm of the endocrine system created_by: doelkens creation_date: 2010-12-29T02:27:47Z [Term] id: HP:0100632 name: Pulmonary sequestration def: "The presence of a piece lung tissue which is not attached to the pulmonary blood supply and does not communicate with the other lung tissue (not connected to the standard bronchial airways and not performing a function in respiration)." [HPO:sdoelken] synonym: "Cystic lung lesion" RELATED [] xref: MSH:D001998 xref: SNOMEDCT_US:18620009 xref: UMLS:C0006288 xref: UMLS:C4020703 is_a: HP:0002101 ! Abnormal lung lobation created_by: doelkens creation_date: 2010-12-29T05:05:08Z [Term] id: HP:0100633 name: Esophagitis def: "Inflammation of the esophagus." [HPO:probinson] subset: hposlim_core synonym: "Inflammation of the esophagus" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Oesophagitis" EXACT [] xref: MEDDRA:10030216 "Oesophagitis" xref: MSH:D004941 xref: SNOMEDCT_US:16761005 xref: UMLS:C0014868 is_a: HP:0002031 ! Abnormal esophagus morphology is_a: HP:0004386 ! Gastrointestinal inflammation created_by: doelkens creation_date: 2010-12-29T05:09:23Z [Term] id: HP:0100634 name: Neuroendocrine neoplasm def: "A tumor that originates from a neuroendocrine cell." [NCIT:C3809, PMID:28448665] comment: Neuroendocrine tumors are often diagnosed incidentally or when patients present with symptoms related to hormone production and/or tumor burden. synonym: "Neuroendocrine neoplasia" EXACT [] xref: MSH:D018358 xref: SNOMEDCT_US:128928004 xref: SNOMEDCT_US:255046005 xref: UMLS:C0206754 is_a: HP:0100007 ! Neoplasm of the peripheral nervous system is_a: HP:0100568 ! Neoplasm of the endocrine system created_by: doelkens creation_date: 2010-12-29T05:12:37Z [Term] id: HP:0100635 name: Carotid paraganglioma def: "A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery." [HPO:probinson] xref: UMLS:C4022005 is_a: HP:0002864 ! Paraganglioma of head and neck is_a: HP:0005344 ! Abnormal carotid artery morphology created_by: doelkens creation_date: 2010-12-29T05:20:58Z [Term] id: HP:0100636 name: Pulmonary paraglioma xref: UMLS:C4022004 is_a: HP:0002668 ! Paraganglioma is_a: HP:0100526 ! Neoplasm of the lung created_by: doelkens creation_date: 2010-12-29T05:23:34Z [Term] id: HP:0100637 name: obsolete Neoplasia of the nose is_obsolete: true replaced_by: HP:0012720 [Term] id: HP:0100638 name: Neoplasm of the pharynx alt_id: HP:0030073 def: "A neoplasm originating in the pharynx." [] comment: Tumors of pharynx may present with nonspecific findings such as otalgia or unilateral otitis media. synonym: "Neoplasia of the pharynx" EXACT [] synonym: "Pharyngeal neoplasm" EXACT [] synonym: "Tumor of the pharynx" NARROW [ORCID:0000-0001-5889-4463] xref: MSH:D010610 xref: NCIT:C3262 xref: SNOMEDCT_US:126685009 xref: UMLS:C0031347 is_a: HP:0100630 ! Neoplasia of the nasopharynx created_by: doelkens creation_date: 2010-12-29T05:31:55Z [Term] id: HP:0100639 name: Erectile abnormalities synonym: "Abnormal erection" EXACT layperson [] synonym: "Erectile abnormalities" EXACT layperson [] xref: UMLS:C4022003 is_a: HP:0000036 ! Abnormality of the penis created_by: doelkens creation_date: 2010-12-29T05:45:28Z [Term] id: HP:0100640 name: Laryngeal cyst def: "Presence of a cyst (sac-like structure) located in the larynx." [HPO:probinson, pmid:24040590] xref: SNOMEDCT_US:195867000 xref: UMLS:C0339880 is_a: HP:0025423 ! Abnormal larynx morphology created_by: doelkens creation_date: 2010-12-29T05:48:37Z [Term] id: HP:0100641 name: Neoplasm of the adrenal cortex def: "The presence of a neoplasm of the adrenal cortex." [HPO:probinson] synonym: "Cortical adrenal neoplasia" EXACT [] xref: MSH:D000306 xref: NCIT:C3262 xref: SNOMEDCT_US:127022002 xref: SNOMEDCT_US:18365006 xref: UMLS:C0001618 is_a: HP:0100631 ! Neoplasm of the adrenal gland created_by: doelkens creation_date: 2010-12-29T05:53:58Z [Term] id: HP:0100642 name: Neoplasm of the adrenal medulla def: "The presence of a neoplasm of the adrenal medulla." [HPO:probinson] synonym: "Medullar adrenal neoplasia" EXACT [] xref: NCIT:C3262 xref: SNOMEDCT_US:127023007 xref: UMLS:C0596046 is_a: HP:0100631 ! Neoplasm of the adrenal gland created_by: doelkens creation_date: 2010-12-29T05:54:15Z [Term] id: HP:0100643 name: Abnormality of nail color def: "An anomaly of the color of the nail." [HPO:probinson] synonym: "Abnormality of nail color" EXACT layperson [] synonym: "Abnormality of nail colour" EXACT layperson [] synonym: "Nail dyschromia" EXACT [] xref: UMLS:C4020960 is_a: HP:0001597 ! Abnormality of the nail created_by: doelkens creation_date: 2010-12-29T05:59:15Z [Term] id: HP:0100644 name: Melanonychia def: "Brown or black discoloration of the nails." [HPO:probinson] xref: MEDDRA:10058330 "Melanonychia" xref: SNOMEDCT_US:402633003 xref: UMLS:C1142305 is_a: HP:0100643 ! Abnormality of nail color created_by: doelkens creation_date: 2010-12-29T06:00:12Z [Term] id: HP:0100645 name: Cystocele def: "Anterior vaginal wall prolapse with bulging of the bladder into the vagina." [HPO:sdoelken] comment: Cystocele occurs owing to weakening and stretching of the suppoortive tissue between the bladder and the vaginal wall. synonym: "Bladder hernia" EXACT layperson [] synonym: "Bladder prolapse" EXACT [] synonym: "Dropped bladder" EXACT layperson [] synonym: "Prolapsed bladder" EXACT [] xref: ICD-9:618.00 xref: SNOMEDCT_US:252005008 xref: UMLS:C1394494 is_a: HP:0025487 ! Abnormality of bladder morphology is_a: HP:0031607 ! Pelvic organ prolapse is_a: HP:0100672 ! Vaginal hernia created_by: doelkens creation_date: 2010-12-29T06:05:01Z [Term] id: HP:0100646 name: Thyroiditis def: "Inflammation of the thyroid gland." [HPO:probinson] synonym: "Thyroid gland inflammation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D013966 xref: SNOMEDCT_US:82119001 xref: UMLS:C0040147 is_a: HP:0011772 ! Abnormality of thyroid morphology is_a: HP:0012649 ! Increased inflammatory response created_by: doelkens creation_date: 2010-12-29T06:08:32Z [Term] id: HP:0100647 name: Graves disease def: "An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients." [HPO:sdoelken] synonym: "Morbus Basedow" EXACT [] xref: MSH:D006111 xref: SNOMEDCT_US:353295004 xref: SNOMEDCT_US:55807009 xref: UMLS:C0018213 is_a: HP:0011784 ! Thyrotoxicosis with diffuse goiter created_by: doelkens creation_date: 2010-12-29T06:08:53Z [Term] id: HP:0100648 name: Neoplasm of the tongue def: "A tumor (abnormal growth of tissue) of the tongue." [HPO:probinson] xref: MSH:D014062 xref: NCIT:C3262 xref: SNOMEDCT_US:126778001 xref: UMLS:C0040411 is_a: HP:0000157 ! Abnormality of the tongue is_a: HP:0100649 ! Neoplasm of the oral cavity created_by: doelkens creation_date: 2010-12-29T06:14:32Z [Term] id: HP:0100649 name: Neoplasm of the oral cavity def: "A tumor (abnormal growth of tissue) of the oral cavity." [HPO:probinson] synonym: "Lesion of mouth" BROAD [ORCID:0000-0001-5889-4463] synonym: "Lesion of oral cavity" BROAD [ORCID:0000-0001-5889-4463] synonym: "Neoplasm of the mouth" RELATED [ORCID:0000-0001-5889-4463] synonym: "Tumor of mouth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Tumor of oral cavity" NARROW layperson [ORCID:0000-0001-5889-4463] xref: MSH:D009062 xref: NCIT:C3262 xref: SNOMEDCT_US:1071000119107 xref: SNOMEDCT_US:126797001 xref: SNOMEDCT_US:235075007 xref: UMLS:C0026640 xref: UMLS:C0149744 xref: UMLS:C4280289 is_a: HP:0000163 ! Abnormal oral cavity morphology is_a: HP:0011793 ! Neoplasm by anatomical site created_by: doelkens creation_date: 2010-12-29T06:15:14Z [Term] id: HP:0100650 name: Vaginal neoplasm def: "A tumor (abnormal growth of tissue) of the vagina." [HPO:probinson] synonym: "Vaginal neoplasia" RELATED [] synonym: "Vaginal tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D014625 xref: NCIT:C3262 xref: SNOMEDCT_US:126921000 xref: UMLS:C0042258 xref: UMLS:C0750081 is_a: HP:0000142 ! Abnormal vagina morphology is_a: HP:0010787 ! Genital neoplasm created_by: doelkens creation_date: 2010-12-29T06:34:41Z [Term] id: HP:0100651 name: Type I diabetes mellitus def: "A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin." [HPO:probinson] comment: The onset of type 1 diabetes is typically during adolescence, but it can develop at any age. synonym: "Diabetes mellitus Type I" EXACT [] synonym: "Insulin-dependent diabetes mellitus" RELATED [HPO:skoehler] synonym: "Juvenile diabetes mellitus" EXACT [] synonym: "Type 1 diabetes" EXACT layperson [] synonym: "Type I diabetes" EXACT layperson [] xref: MSH:D003922 xref: SNOMEDCT_US:46635009 xref: UMLS:C0011854 is_a: HP:0000819 ! Diabetes mellitus created_by: doelkens creation_date: 2010-12-29T06:37:55Z [Term] id: HP:0100653 name: Optic neuritis def: "Inflammation of the optic nerve." [HPO:sdoelken] comment: Optic neuritis can cause loss of vision because of swelling and destruction of the myelin sheath covering the optic nerve and/or direct axonal damage. xref: MSH:D009902 xref: SNOMEDCT_US:66760008 xref: UMLS:C0029134 is_a: HP:0000587 ! Abnormality of the optic nerve is_a: HP:0012649 ! Increased inflammatory response created_by: doelkens creation_date: 2010-12-30T09:56:38Z [Term] id: HP:0100654 name: Retrobulbar optic neuritis def: "Optic neuritis that occurs in the section of the optic nerve located behind the eyeball." [HPO:sdoelken] synonym: "Retrobulbar neuritis" EXACT [] xref: MSH:D009902 xref: SNOMEDCT_US:230507009 xref: UMLS:C0085582 is_a: HP:0100653 ! Optic neuritis created_by: doelkens creation_date: 2010-12-30T09:57:09Z [Term] id: HP:0100656 name: Thoracoabdominal wall defect def: "Failure to close of the chest and abdominal wall likely caused by the failure of the ventral wall to close during week 4 of development." [] comment: May be accompanied by thoracic ectopia cordis and gastroschisis. synonym: "Thoracoabdominal schisis" EXACT [] xref: UMLS:C4022002 is_a: HP:0000765 ! Abnormality of the thorax is_a: HP:0010866 ! Abdominal wall defect created_by: doelkens creation_date: 2010-12-30T10:04:18Z [Term] id: HP:0100657 name: Thoracoabdominal eventration def: "Congenital protrusion of the abdominal or thoracic viscera, usually with a defect of the sternum and ribs as well as of the abdominal walls." [HPO:sdoelken] synonym: "Celosomia" EXACT [] synonym: "Kelosomia" EXACT [] xref: SNOMEDCT_US:44518003 xref: UMLS:C0266682 is_a: HP:0100656 ! Thoracoabdominal wall defect created_by: doelkens creation_date: 2010-12-30T10:07:54Z [Term] id: HP:0100658 name: Cellulitis alt_id: HP:0003553 def: "A bacterial infection and inflammation of the skin und subcutaneous tissues." [] comment: In contrast to impetigo, which is a very superficial skin infection, cellulitis involves both the dermis and the underlying subcutaneous tissue. subset: hposlim_core synonym: "Bacterial infection of skin" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Skin infection" EXACT layperson [] xref: MSH:D002481 xref: MSH:D017192 xref: SNOMEDCT_US:128045006 xref: SNOMEDCT_US:128936008 xref: SNOMEDCT_US:385627004 xref: UMLS:C0007642 xref: UMLS:C0162627 is_a: HP:0003549 ! Abnormality of connective tissue created_by: doelkens creation_date: 2010-12-30T10:11:51Z [Term] id: HP:0100659 name: Abnormality of the cerebral vasculature synonym: "Abnormality of the cerebral blood vessels" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4022001 is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0012443 ! Abnormality of brain morphology created_by: doelkens creation_date: 2010-12-30T11:39:15Z [Term] id: HP:0100660 name: Dyskinesia def: "A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements." [HPO:sdoelken] synonym: "Disorder of involuntary muscle movements" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Dyskinesias" RELATED [HPO:skoehler] synonym: "Dyskinesis" EXACT [] xref: MSH:D020820 xref: SNOMEDCT_US:9748009 xref: UMLS:C0013384 is_a: HP:0100022 ! Abnormality of movement created_by: doelkens creation_date: 2010-12-30T11:46:50Z [Term] id: HP:0100661 name: Trigeminal neuralgia def: "A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected." [HPO:sdoelken] synonym: "Tic douloureux" EXACT [] xref: MSH:D014277 xref: SNOMEDCT_US:31681005 xref: UMLS:C0040997 is_a: HP:0031911 ! Abnormal fifth cranial nerve physiology created_by: doelkens creation_date: 2010-12-30T11:53:47Z [Term] id: HP:0100662 name: Chondritis def: "Inflammation of cartilage." [HPO:sdoelken] synonym: "Cartilage inflammation" EXACT layperson [] xref: SNOMEDCT_US:46176001 xref: UMLS:C0008439 is_a: HP:0002763 ! Abnormal cartilage morphology is_a: HP:0012649 ! Increased inflammatory response created_by: doelkens creation_date: 2010-12-30T12:57:50Z [Term] id: HP:0100663 name: Synotia def: "A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw." [HPO:sdoelken] xref: SNOMEDCT_US:77471004 xref: UMLS:C0266677 is_a: HP:0000357 ! Abnormal location of ears created_by: doelkens creation_date: 2010-12-30T01:00:36Z [Term] id: HP:0100665 name: Angioedema alt_id: HP:0100666 def: "Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis." [HPO:sdoelken] comment: Apart from the common form, mediated by allergy, it has been reported as a side effect of some medications, in particular ACE inhibitors. Additionally, there are three autosomal dominant inherited forms known, due to mutations in the genes that control the clotting cascade, including the SERPING1 gene, which results in deficiency of the blood protein C1-inhibitor (type I HAE) and the F12 gene, which controls Factor XII (type III HAE). There is an additional type in which C1 levels are normal but C1 function is decreased (type II HAE). All three forms are called hereditary angioedema (HAE) or occasionally by the outdated term 'hereditary angioneurotic edema' (HANE). In all forms of HAE, swelling may also occur in the digestive tract and other organs. It is life-threatening when it involves the larynx due to the potential for asphyxiation. synonym: "Angioneurotic oedema" EXACT [] synonym: "Angiooedema" EXACT [] synonym: "Quincke edema" EXACT [] xref: MSH:D000799 xref: SNOMEDCT_US:400075008 xref: SNOMEDCT_US:41291007 xref: UMLS:C0002994 is_a: HP:0000969 ! Edema is_a: HP:0011276 ! Vascular skin abnormality created_by: doelkens creation_date: 2010-12-30T01:09:59Z [Term] id: HP:0100668 name: Intestinal duplication def: "A developmental disorder in which there is a duplication the entire intestine or of a portion of the intestine." [HPO:probinson] synonym: "Bowel duplication" EXACT layperson [] synonym: "Gut duplication" RELATED layperson [] xref: SNOMEDCT_US:3845008 xref: UMLS:C0266166 xref: UMLS:C4020702 is_a: HP:0002242 ! Abnormal intestine morphology is_a: HP:0011140 ! Gastrointestinal duplication created_by: doelkens creation_date: 2010-12-30T01:23:50Z [Term] id: HP:0100669 name: Abnormal pigmentation of the oral mucosa def: "An abnormality of the pigmentation of the mucosa of the mouth." [HPO:probinson] synonym: "Abnormal color of the oral mucosa" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormal pigmentation of oral cavity" EXACT [] synonym: "Abnormal pigmentation of oral mucous membrane" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormal pigmentation of the oral mucosa/gingivae" EXACT [] xref: UMLS:C4020959 is_a: HP:0011830 ! Abnormal oral mucosa morphology created_by: doelkens creation_date: 2010-12-30T01:25:45Z [Term] id: HP:0100670 name: Rough bone trabeculation synonym: "Rough trabeculation of bone" EXACT [] xref: UMLS:C4020958 is_a: HP:0100671 ! Abnormal trabecular bone morphology created_by: doelkens creation_date: 2010-12-30T01:29:46Z [Term] id: HP:0100671 name: Abnormal trabecular bone morphology def: "Abnormal structure or form of trabecular bone." [HPO:probinson] synonym: "Abnormal shape of spongy bone" EXACT [ORCID:0000-0001-5208-3432] synonym: "Abnormality of bone trabeculation" EXACT [] xref: UMLS:C4020957 is_a: HP:0003330 ! Abnormal bone structure created_by: doelkens creation_date: 2010-12-30T01:30:05Z [Term] id: HP:0100672 name: Vaginal hernia def: "The presence of a hernia of the vagina." [HPO:probinson] xref: SNOMEDCT_US:397786004 xref: UMLS:C1442998 is_a: HP:0000142 ! Abnormal vagina morphology is_a: HP:0100823 ! Genital hernia created_by: doelkens creation_date: 2010-12-30T01:35:05Z [Term] id: HP:0100673 name: Vaginal hydrocele comment: "vaginal" refers to the tunica vaginalis of the testis, not to the vagina. xref: MSH:D006848 xref: SNOMEDCT_US:26614003 xref: SNOMEDCT_US:386152007 xref: SNOMEDCT_US:55434001 xref: UMLS:C1720771 is_a: HP:0000045 ! Abnormality of the scrotum created_by: doelkens creation_date: 2010-12-30T01:36:39Z [Term] id: HP:0100674 name: Vaginal hematocele comment: "vaginal" refers to the tunica vaginalis of the testis, not to the vagina. xref: UMLS:C1456401 is_a: HP:0000045 ! Abnormality of the scrotum created_by: doelkens creation_date: 2010-12-30T01:36:39Z [Term] id: HP:0100675 name: Vaginal pyocele comment: "vaginal" refers to the tunica vaginalis of the testis, not to the vagina. xref: UMLS:C4022000 is_a: HP:0000045 ! Abnormality of the scrotum created_by: doelkens creation_date: 2010-12-30T01:36:39Z [Term] id: HP:0100676 name: Vaginal lymphocele comment: "vaginal" refers to the tunica vaginalis of the testis, not to the vagina. xref: UMLS:C4021999 is_a: HP:0000045 ! Abnormality of the scrotum created_by: doelkens creation_date: 2010-12-30T01:36:39Z [Term] id: HP:0100677 name: Vulval varicose vein def: "Varicosity of veins in the vulval region." [HPO:probinson] xref: SNOMEDCT_US:48868008 xref: UMLS:C0155796 is_a: HP:0000055 ! Abnormality of female external genitalia is_a: HP:0002619 ! Varicose veins created_by: doelkens creation_date: 2010-12-30T01:36:39Z [Term] id: HP:0100678 name: Premature skin wrinkling alt_id: HP:0200074 def: "The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms." [HPO:probinson] subset: hposlim_core synonym: "Premature skin wrinkling" EXACT layperson [] synonym: "Wrinkled skin" RELATED layperson [] xref: MEDDRA:10040954 "Skin wrinkling" xref: MSH:D015595 xref: SNOMEDCT_US:247434009 xref: UMLS:C0037301 is_a: HP:0007495 ! Prematurely aged appearance created_by: doelkens creation_date: 2010-12-30T01:43:36Z [Term] id: HP:0100679 name: Lack of skin elasticity synonym: "Tight skin" RELATED layperson [] xref: SNOMEDCT_US:297957009 xref: UMLS:C0558242 xref: UMLS:C4021998 is_a: HP:0010647 ! Abnormal elasticity of skin created_by: doelkens creation_date: 2010-12-30T01:48:15Z [Term] id: HP:0100681 name: Esophageal duplication def: "A developmental disorder in which there is a duplication of a portion of the muscle and submucosa of the esophagus without epithelial duplication." [HPO:probinson, pmid:10464795] comment: Esophageal duplication is a rare cause of mediastinal mass. An esophageal duplication may be a simple epithelial cyst or duplication that contains muscle and submucosa but not epithelium. In most cases, the duplication is located in the lower thrid of the esophagus, and the most common associated symptom is difficulty in swallowing. Esophageal duplication occurs because of maldevelopment of the posterior division of embryonic foregut. xref: SNOMEDCT_US:66865009 xref: UMLS:C0266135 is_a: HP:0002031 ! Abnormal esophagus morphology is_a: HP:0011140 ! Gastrointestinal duplication created_by: doelkens creation_date: 2010-12-30T02:08:38Z [Term] id: HP:0100682 name: Tracheal atresia def: "A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking." [HPO:probinson, pmid:9776081] comment: Diagnosis\ncan be made if the neonate presents with respiratory\ndistress at birth, unable to produce an audible cry in spite\nof an obvious physical effort, and cannot be intubated but\nshows some improvement when ventilated by bag and\nmask. xref: SNOMEDCT_US:53189005 xref: UMLS:C0265766 is_a: HP:0002777 ! Tracheal stenosis created_by: doelkens creation_date: 2010-12-30T02:09:37Z [Term] id: HP:0100684 name: Salivary gland neoplasm def: "A tumor (abnormal growth of tissue) of a salivary gland." [HPO:probinson] synonym: "Cancer of salivary gland" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Salivary gland neoplasia" EXACT [] synonym: "Tumor of salivary gland" NARROW layperson [ORCID:0000-0001-5889-4463] xref: MSH:D012468 xref: NCIT:C3262 xref: SNOMEDCT_US:235132004 xref: SNOMEDCT_US:255072001 xref: UMLS:C0036095 xref: UMLS:C0220636 is_a: HP:0010286 ! Abnormal salivary gland morphology is_a: HP:0100649 ! Neoplasm of the oral cavity created_by: doelkens creation_date: 2010-12-30T02:20:38Z [Term] id: HP:0100685 name: Abnormal Sharpey fiber morphology def: "An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone." [HPO:probinson] synonym: "Abnormality of Sharpey fibers" EXACT [] synonym: "Enthesis abnormality" RELATED [] xref: UMLS:C4020701 xref: UMLS:C4021997 is_a: HP:0003549 ! Abnormality of connective tissue created_by: doelkens creation_date: 2010-12-30T02:25:32Z [Term] id: HP:0100686 name: Enthesitis synonym: "Inflammation of sharpey fibers" EXACT [] xref: SNOMEDCT_US:359643005 xref: UMLS:C1282952 is_a: HP:0100685 ! Abnormal Sharpey fiber morphology created_by: doelkens creation_date: 2010-12-30T02:27:20Z [Term] id: HP:0100687 name: Polyotia def: "The presence of an extra auricle on one or both sides of the head." [HPO:sdoelken] xref: SNOMEDCT_US:35547002 xref: UMLS:C0266611 is_a: HP:0000356 ! Abnormality of the outer ear created_by: doelkens creation_date: 2010-12-30T02:30:14Z [Term] id: HP:0100689 name: Decreased corneal thickness def: "A decreased anteroposterior thickness of the cornea." [HPO:gblack] synonym: "Thin cornea" EXACT layperson [] xref: SNOMEDCT_US:423459005 xref: UMLS:C1096274 is_a: HP:0011486 ! Abnormality of corneal thickness created_by: doelkens creation_date: 2011-02-18T04:40:41Z [Term] id: HP:0100690 name: Mosaic central corneal dystrophy xref: UMLS:C4021996 is_a: HP:0007836 ! Mosaic corneal dystrophy is_a: HP:0007881 ! Central corneal dystrophy created_by: doelkens creation_date: 2011-02-18T04:52:59Z [Term] id: HP:0100691 name: Abnormality of the curvature of the cornea xref: UMLS:C4021995 is_a: HP:0000481 ! Abnormal cornea morphology created_by: doelkens creation_date: 2011-02-18T04:58:48Z [Term] id: HP:0100692 name: Increased corneal curvature def: "An increase in the degree of curvature of the cornea compared to normal." [DDD:ncarter] synonym: "Steep corneal curvature" EXACT [] xref: UMLS:C4020956 is_a: HP:0100691 ! Abnormality of the curvature of the cornea created_by: doelkens creation_date: 2011-02-18T05:01:31Z [Term] id: HP:0100693 name: Iridodonesis def: "Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens." [HPO:sdoelken] xref: SNOMEDCT_US:118166004 xref: UMLS:C0423320 is_a: HP:0000525 ! Abnormality iris morphology created_by: doelkens creation_date: 2011-02-18T05:11:16Z [Term] id: HP:0100694 name: Tibial torsion def: "Tibial torsion is inward twisting (medial rotation) (PATO:0002155) of the tibia." [HPO:sdoelken] comment: Normally, lateral rotation of the tibia increases from approximately 5 degrees at birth to approximately 15 degrees at maturity. Tibial torsion is the most common cause of intoeing. In a study by Mullaji et al to determine tibial torsion norms, individuals in India were found to have less tibial torsion than Caucasians but about the same amount as the Japanese population. The differences in normal tibial torsion values are expected to be caused by the different lifestyles and postures of the different populations, such as cross-legged sitting positions. xref: SNOMEDCT_US:249785006 xref: UMLS:C0426900 is_a: HP:0002992 ! Abnormality of tibia morphology created_by: doelkens creation_date: 2011-03-28T05:04:08Z [Term] id: HP:0100695 name: Lipedema def: "Excess deposit and expansion of adipose tissue in an unusual pattern which cannot be lost through diet and exercise ." [HPO:sdoelken] comment: The pattern of fat deposition is most often bilateral, symmetrical and usually from the waist to a distinct line just above the ankles. xref: MSH:D065134 xref: SNOMEDCT_US:234102003 xref: UMLS:C0398370 is_a: HP:0009126 ! Increased adipose tissue created_by: doelkens creation_date: 2011-03-28T04:43:32Z [Term] id: HP:0100697 name: Neurofibrosarcoma def: "A form of malignant cancer of the connective tissue surrounding nerves. Given its origin and behavior, it is classified as a sarcoma." [HPO:sdoelken] comment: About half the cases are diagnosed in people with neurofibromatosis. synonym: "Malignant peripheral nerve sheath tumor" EXACT [] synonym: "Malignant schwannoma" EXACT [] synonym: "Neurosarcoma" EXACT [] xref: MSH:D009442 xref: MSH:D018319 xref: NCIT:C3798 xref: SNOMEDCT_US:19897006 xref: SNOMEDCT_US:404037002 xref: SNOMEDCT_US:77418004 xref: UMLS:C0206729 xref: UMLS:C0751690 is_a: HP:0030448 ! Soft tissue sarcoma created_by: doelkens creation_date: 2011-03-29T11:40:44Z [Term] id: HP:0100698 name: Subcutaneous neurofibromas def: "The presence of Neurofibromas in the subcutis." [HPO:sdoelken] xref: SNOMEDCT_US:425327002 xref: UMLS:C1827970 is_a: HP:0001067 ! Neurofibromas created_by: doelkens creation_date: 2011-03-29T12:03:47Z [Term] id: HP:0100699 name: Scarring synonym: "Scar tissue" RELATED layperson [] synonym: "Scarring" EXACT layperson [] xref: MSH:D002921 xref: SNOMEDCT_US:48677004 xref: UMLS:C0008767 is_a: HP:0003549 ! Abnormality of connective tissue created_by: koehlers creation_date: 2011-03-29T06:39:56Z [Term] id: HP:0100700 name: Abnormal arachnoid mater morphology def: "An abnormality of the Arachnoid mater." [HPO:sdoelken] synonym: "Abnormality of the arachnoid mater" EXACT [] synonym: "Abnormality of the arachnoidea" EXACT [] xref: UMLS:C4020955 is_a: HP:0010651 ! Abnormal meningeal morphology created_by: doelkens creation_date: 2011-03-31T12:43:27Z [Term] id: HP:0100701 name: Abnormal pia mater def: "An abnormality of the pia mater." [HPO:sdoelken] synonym: "Abnormality of the pia mater" EXACT [] xref: UMLS:C4021994 is_a: HP:0010651 ! Abnormal meningeal morphology created_by: doelkens creation_date: 2011-03-31T12:44:41Z [Term] id: HP:0100702 name: Arachnoid cyst def: "An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid." [HPO:sdoelken] comment: Arachnoid cysts can be found on the brain, or on the spine. Intracranial arachnoid cysts usually occur adjacent to the arachnoidal cistern. Spinal arachnoid cysts may be extradural, intradural, or perineural. synonym: "Arachnoid cysts" RELATED [HPO:skoehler] synonym: "Fluid-filled sac located in membrane surrounding brain or spinal cord" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D016080 xref: SNOMEDCT_US:33595009 xref: UMLS:C0078981 is_a: HP:0100700 ! Abnormal arachnoid mater morphology created_by: doelkens creation_date: 2011-03-31T12:46:59Z [Term] id: HP:0100703 name: Tongue thrusting synonym: "Tongue thrusting" EXACT layperson [] xref: SNOMEDCT_US:110343009 xref: SNOMEDCT_US:424583005 xref: UMLS:C1829460 is_a: HP:0000733 ! Stereotypy created_by: doelkens creation_date: 2011-03-31T12:54:41Z [Term] id: HP:0100704 name: Cerebral visual impairment alt_id: HP:0000595 def: "A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye." [HPO:probinson, PMID:28082927] comment: The term cortical/cerebral visual impairment (CVI) was coined to describe damage to visual pathways and structures occurring during early perinatal development. The term cortical visual impairment was originally proposed to describe visual dysfunction in pediatric populations of non-ocular cause, and its presumed association with damage to early visual cortical areas. However, as further characterization of this condition progressed, it became evident that CVI was often associated with damage to sites beyond early visual cortex including subcortical structures, white matter pathways, as well as higher-order associative processing areas of the cortex. Thus, the word cortical has been viewed as somewhat of a misnomer, and there has been the suggestion that the term cerebral would be a more encompassing and appropriate term. Although there is still a debate in the community about the most appropriate nomenclature, the HPO will regard these terms as synonymous. It is recommended that more specific terms be used as appropriate for annotation. synonym: "Cortical blindness" EXACT [] synonym: "Cortical visual impairment" EXACT [] synonym: "Cortical/cerebral visual impairment" EXACT [] synonym: "CVI" EXACT HP:0045077 [] xref: MSH:D019575 xref: SNOMEDCT_US:413924001 xref: SNOMEDCT_US:68574006 xref: UMLS:C0155320 xref: UMLS:C4048268 is_a: HP:0000505 ! Visual impairment created_by: doelkens creation_date: 2011-03-31T01:03:21Z [Term] id: HP:0100705 name: Abnormality of the glial cells def: "An abnormality of the glia cell." [HPO:probinson] comment: Glia are nonneuronal cells of the nervous system that provide physical support, respond to injury, regulate the composition of the extracellular milieu, guide neuronal migration during development, and exchange metabolites with neurons. xref: UMLS:C4021993 is_a: HP:0002011 ! Morphological abnormality of the central nervous system created_by: doelkens creation_date: 2011-04-03T02:33:49Z [Term] id: HP:0100706 name: Abnormality of the oligodendroglia def: "One of the three types of glia cells that, with the nerve cells, compose the central nervous system and are characterized by sheetlike processes that wrap around individual axons to form the myelin sheath of nerve fibers." [HPO:sdoelken] xref: UMLS:C4021992 is_a: HP:0100705 ! Abnormality of the glial cells created_by: doelkens creation_date: 2011-04-03T02:34:15Z [Term] id: HP:0100707 name: Abnormality of the astrocytes def: "An abnormality of astrocytes." [HPO:probinson] comment: Astrocytes represent a class of large neuroglial (macroglial) cells in the central nervous system. xref: UMLS:C4021991 is_a: HP:0100705 ! Abnormality of the glial cells created_by: doelkens creation_date: 2011-04-03T02:36:46Z [Term] id: HP:0100708 name: Abnormality of the microglia def: "An abnormality of the microglial cells. They are also known as brain-resident macrophages or hortega cells." [HPO:probinson] comment: Microglial cells represent a central nervous system macrophage found in the parenchyma of the central nervous system. xref: UMLS:C4021990 is_a: HP:0100705 ! Abnormality of the glial cells created_by: doelkens creation_date: 2011-04-03T02:37:09Z [Term] id: HP:0100709 name: Reduction of oligodendroglia xref: UMLS:C4021852 is_a: HP:0100706 ! Abnormality of the oligodendroglia created_by: doelkens creation_date: 2011-04-03T02:39:50Z [Term] id: HP:0100710 name: Impulsivity def: "Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; difficulty establishing or following plans; a sense of urgency and self-harming behavior under emotional distress." [PMID:23902698] synonym: "Impulsive" EXACT layperson [] synonym: "Impulsivity" EXACT layperson [] xref: MSH:D007175 xref: UMLS:C0021125 is_a: HP:0000734 ! Disinhibition created_by: doelkens creation_date: 2011-04-07T05:36:16Z [Term] id: HP:0100711 name: Abnormality of the thoracic spine def: "An abnormality of the thoracic vertebral column." [HPO:probinson] xref: UMLS:C4021989 is_a: HP:0000765 ! Abnormality of the thorax is_a: HP:0000925 ! Abnormality of the vertebral column created_by: doelkens creation_date: 2011-05-05T09:37:17Z [Term] id: HP:0100712 name: Abnormality of the lumbar spine def: "An abnormality of the lumbar vertebral column." [HPO:probinson] xref: UMLS:C4021988 is_a: HP:0000925 ! Abnormality of the vertebral column created_by: doelkens creation_date: 2011-05-05T09:37:33Z [Term] id: HP:0100716 name: Self-injurious behavior def: "Aggression towards oneself." [HPO:sdoelken] synonym: "Autoagression" EXACT [] synonym: "Self injury" EXACT [] synonym: "Self-harm" EXACT [] synonym: "Self-injurious behavior" EXACT layperson [] synonym: "Self-injurious behaviors" RELATED layperson [HPO:skoehler] synonym: "Self-injurious behaviour" EXACT layperson [] xref: MSH:D016728 xref: SNOMEDCT_US:248062006 xref: UMLS:C0085271 is_a: HP:0006919 ! Abnormal aggressive, impulsive or violent behavior created_by: doelkens creation_date: 2011-05-16T06:47:54Z [Term] id: HP:0100717 name: Abnormality of the cementum xref: UMLS:C4021987 is_a: HP:0011061 ! Abnormality of dental structure is_a: HP:3000050 ! Abnormality of odontoid tissue created_by: doelkens creation_date: 2011-06-06T01:33:28Z [Term] id: HP:0100718 name: Uterine rupture xref: MSH:D014597 xref: SNOMEDCT_US:34430009 xref: UMLS:C0042143 is_a: HP:0031105 ! Abnormal uterus morphology created_by: doelkens creation_date: 2011-06-06T01:49:29Z [Term] id: HP:0100719 name: Lens coloboma def: "A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence." [HPO:probinson] subset: hposlim_core xref: SNOMEDCT_US:204134008 xref: UMLS:C0344516 is_a: HP:0000589 ! Coloboma is_a: HP:0008063 ! Aplasia/Hypoplasia of the lens created_by: doelkens creation_date: 2011-06-06T02:16:53Z [Term] id: HP:0100720 name: Hypoplasia of the ear cartilage synonym: "Underdeveloped ear cartilage" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021986 is_a: HP:0000377 ! Abnormality of the pinna created_by: doelkens creation_date: 2011-06-06T02:17:54Z [Term] id: HP:0100721 name: Mediastinal lymphadenopathy def: "Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes." [HPO:probinson] synonym: "Swollen lymph nodes in center of chest" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:52324001 xref: UMLS:C0520743 is_a: HP:0002716 ! Lymphadenopathy is_a: HP:0045026 ! Abnormality of the mediastinum created_by: doelkens creation_date: 2011-06-06T02:26:55Z [Term] id: HP:0100723 name: Gastrointestinal stroma tumor synonym: "Gastrointestinal stromal tumor" EXACT [] synonym: "Gastrointestinal stromal tumors" RELATED [HPO:skoehler] synonym: "GI stroma tumor" EXACT HP:0045077 [] synonym: "GIST" EXACT HP:0045077 [HPO:skoehler] xref: MSH:D046152 xref: SNOMEDCT_US:128755003 xref: SNOMEDCT_US:420120006 xref: UMLS:C0238198 is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract created_by: doelkens creation_date: 2011-06-06T02:49:58Z [Term] id: HP:0100724 name: Hypercoagulability def: "An abnormality of coagulation associated with an increased risk of thrombosis." [HPO:probinson] synonym: "Blood hyperviscosity" EXACT [] synonym: "Thrombophilia" EXACT [] xref: MSH:D019851 xref: SNOMEDCT_US:234467004 xref: SNOMEDCT_US:76612001 xref: UMLS:C0398623 is_a: HP:0001928 ! Abnormality of coagulation created_by: doelkens creation_date: 2011-06-06T04:04:38Z [Term] id: HP:0100725 name: Lichenification def: "Thickening and hardening of the epidermis seen with exaggeration of normal skin lines." [HPO:probinson] xref: SNOMEDCT_US:19940005 xref: SNOMEDCT_US:402237006 xref: UMLS:C0023653 is_a: HP:0011121 ! Abnormality of skin morphology created_by: doelkens creation_date: 2011-06-06T04:18:53Z [Term] id: HP:0100726 name: Kaposi's sarcoma def: "A systemic disease which can present with cutaneous lesions with or without internal involvement. Tumors are caused by Human herpesvirus 8 (HHV8), also known as Kaposi's sarcoma-associated herpesvirus (KSHV)." [HPO:sdoelken] xref: MSH:D012514 xref: SNOMEDCT_US:109385007 xref: SNOMEDCT_US:49937004 xref: UMLS:C0036220 is_a: HP:0008069 ! Neoplasm of the skin created_by: doelkens creation_date: 2011-06-06T04:33:09Z [Term] id: HP:0100727 name: Histiocytosis def: "An excessive number of histiocytes (tissue macrophages)." [HPO:sdoelken] xref: MSH:D015614 xref: SNOMEDCT_US:60657004 xref: SNOMEDCT_US:65396000 xref: UMLS:C0019618 is_a: HP:0004311 ! Abnormal macrophage morphology created_by: doelkens creation_date: 2011-06-06T04:43:05Z [Term] id: HP:0100728 name: Germ cell neoplasia xref: NCIT:C3708 xref: UMLS:C4021985 is_a: HP:0010785 ! Gonadal neoplasm created_by: doelkens creation_date: 2011-06-06T04:46:36Z [Term] id: HP:0100729 name: Large face synonym: "Big face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Large face" EXACT layperson [] synonym: "Large facies" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C2748652 is_a: HP:0001999 ! Abnormal facial shape created_by: doelkens creation_date: 2011-06-06T04:50:47Z [Term] id: HP:0100730 name: Bronchogenic cyst def: "A rare congenital cystic lesion of the lungs in the mediastinum." [HPO:sdoelken, PMID:24605255] comment: Bronchogenic cysts (BCs) are congenital lesions thought to result from abnormal budding of the embryonic foregut. The most frequent symptoms are pain, cough, fever, respiratory distress, or dyspnea. Intrapulmonary bronchogenic cysts are usually sharply defined, solitary, non-calcified, round, or oval opacities confined to a single lobe. These can present as a homogeneous water density, an air- filled cyst, or with an air-fluid level. The cyst can rupture into the trachea, pericardial cavity, or pleural cavity. Infection of the cyst may lead to surrounding acinar shadow. An air-filled cyst or one with an air-fluid level may be present if a complicating tracheo-bronchial connection develops. xref: MSH:D001994 xref: SNOMEDCT_US:268194008 xref: SNOMEDCT_US:9550003 xref: UMLS:C0006281 is_a: HP:0032445 ! Pulmonary cyst created_by: doelkens creation_date: 2011-06-06T05:01:27Z [Term] id: HP:0100731 name: Transverse facial cleft def: "A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear." [DDD:jhurst] comment: Usually, these clefts are unilateral and do not extend beyond the anterior border of the masseter. Transverse clefts are thought to develop either due to failure of the maxillary and mandibular processes to fuse or a disruption in the processes after fusing. synonym: "Lateral facial cleft" EXACT [] synonym: "Tessier cleft number 7" EXACT [] synonym: "Tessier facial cleft number 6" EXACT [ORCID:0000-0001-5889-4463] synonym: "Tessier facial cleft number 7" EXACT [] synonym: "Tessier facial cleft number 8" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4020954 is_a: HP:0002006 ! Facial cleft is_a: HP:0011338 ! Abnormality of mouth shape created_by: doelkens creation_date: 2011-06-06T05:03:42Z [Term] id: HP:0100732 name: Pancreatic fibrosis xref: SNOMEDCT_US:25942009 xref: UMLS:C0267952 is_a: HP:0012090 ! Abnormal pancreas morphology created_by: doelkens creation_date: 2011-06-06T05:06:26Z [Term] id: HP:0100733 name: Neoplasm of the parathyroid gland def: "A tumor (abnormal growth of tissue) of the parathyroid gland." [HPO:probinson] synonym: "Parathyroid neoplasia" EXACT [] xref: MSH:D010282 xref: NCIT:C3262 xref: SNOMEDCT_US:127020005 xref: UMLS:C0030521 is_a: HP:0011766 ! Abnormality of the parathyroid morphology is_a: HP:0100568 ! Neoplasm of the endocrine system created_by: doelkens creation_date: 2011-06-06T05:09:38Z [Term] id: HP:0100734 name: Abnormality of vertebral epiphysis morphology def: "An anomaly of one or more epiphyses of one or more vertebrae." [] synonym: "Abnormal shape of the end part of the vertebra bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the vertebral epiphyses" EXACT [] xref: UMLS:C4020953 is_a: HP:0003468 ! Abnormal vertebral morphology is_a: HP:0005930 ! Abnormality of epiphysis morphology created_by: doelkens creation_date: 2011-06-06T05:13:08Z [Term] id: HP:0100735 name: Hypertensive crisis xref: SNOMEDCT_US:706882009 xref: UMLS:C0020546 is_a: HP:0000822 ! Hypertension created_by: doelkens creation_date: 2011-06-06T05:38:31Z [Term] id: HP:0100736 name: Abnormal soft palate morphology def: "An abnormality of the soft palate." [HPO:probinson] synonym: "Abnormality of the muscular palate" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the soft palate" EXACT [] synonym: "Abnormality of the velum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the velum palatinum" EXACT [HPO:skoehler] xref: UMLS:C4021984 is_a: HP:0000174 ! Abnormal palate morphology created_by: doelkens creation_date: 2011-06-06T05:41:48Z [Term] id: HP:0100737 name: Abnormal hard palate morphology synonym: "Abnormality of the hard palate" EXACT [] synonym: "Abnormality of the secondary palate" BROAD [ORCID:0000-0001-5889-4463] xref: UMLS:C4021983 is_a: HP:0000174 ! Abnormal palate morphology created_by: doelkens creation_date: 2011-06-06T05:42:10Z [Term] id: HP:0100738 name: Abnormal eating behavior def: "Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption." [] comment: Note that this HPO term refers to an abnormal eating habit but does not directly refer to an eating disorder, which is a psychological disorder that is characterized by one or more abnormal eating behaviors. synonym: "Abnormal eating behavior" EXACT layperson [] xref: UMLS:C4021982 is_a: HP:0040202 ! Abnormal consumption behavior created_by: doelkens creation_date: 2011-06-06T05:54:51Z [Term] id: HP:0100739 name: Bulimia def: "A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these)." [HPO:probinson, pmid:23346610] synonym: "Binge and purge" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D002032 xref: SNOMEDCT_US:78004001 xref: UMLS:C0006370 is_a: HP:0100738 ! Abnormal eating behavior created_by: doelkens creation_date: 2011-06-06T05:55:43Z [Term] id: HP:0100742 name: Vascular neoplasm def: "A benign or malignant neoplasm (tumour) originating in the vascular system." [HPO:probinson] synonym: "Blood vessel tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D009383 xref: MSH:D019043 xref: NCIT:C3262 xref: SNOMEDCT_US:115235003 xref: SNOMEDCT_US:126736007 xref: SNOMEDCT_US:699605009 xref: UMLS:C0027668 xref: UMLS:C0282607 is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0011793 ! Neoplasm by anatomical site created_by: doelkens creation_date: 2011-06-06T06:08:26Z [Term] id: HP:0100743 name: Neoplasm of the rectum synonym: "Rectal tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D012004 xref: NCIT:C3262 xref: SNOMEDCT_US:126847008 xref: UMLS:C0034885 is_a: HP:0002034 ! Abnormality of the rectum is_a: HP:0100834 ! Neoplasm of the large intestine created_by: doelkens creation_date: 2011-06-06T06:20:18Z [Term] id: HP:0100744 name: Abnormality of the humeroradial joint xref: UMLS:C4021981 is_a: HP:0009811 ! Abnormality of the elbow created_by: doelkens creation_date: 2011-06-06T06:24:45Z [Term] id: HP:0100745 name: Abnormality of the humeroulnar joint def: "An anomaly of the joint between the trochlear notch of ulna and the trochlea of humerus, which is part of the elbow joint." [HPO:probinson] xref: UMLS:C4021980 is_a: HP:0009811 ! Abnormality of the elbow created_by: doelkens creation_date: 2011-06-06T06:25:05Z [Term] id: HP:0100746 name: Macrodactyly of finger def: "A type of Macrodactyly affecting one or several fingers." [HPO:probinson] synonym: "Macrodactyly of hands" EXACT [] xref: MSH:C537720 xref: SNOMEDCT_US:297195000 xref: UMLS:C0574044 is_a: HP:0001167 ! Abnormality of finger is_a: HP:0004099 ! Macrodactyly created_by: doelkens creation_date: 2011-06-06T06:29:55Z [Term] id: HP:0100747 name: Macrodactyly of toe def: "A type of Macrodactyly affecting one or several toes." [HPO:probinson] synonym: "Foot macrodactyly" EXACT [] xref: MSH:C537719 xref: UMLS:C2931596 is_a: HP:0001780 ! Abnormality of toe is_a: HP:0004099 ! Macrodactyly created_by: doelkens creation_date: 2011-06-06T06:29:55Z [Term] id: HP:0100748 name: Muscular edema xref: UMLS:C4021979 is_a: HP:0000969 ! Edema is_a: HP:0011805 ! Abnormal muscle morphology created_by: doelkens creation_date: 2011-06-06T06:31:20Z [Term] id: HP:0100749 name: Chest pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest." [] synonym: "Chest pain" EXACT layperson [] synonym: "Thoracic pain" EXACT [] xref: MSH:D002637 xref: SNOMEDCT_US:29857009 xref: UMLS:C0008031 is_a: HP:0000765 ! Abnormality of the thorax is_a: HP:0012531 ! Pain created_by: doelkens creation_date: 2011-06-06T06:36:48Z [Term] id: HP:0100750 name: Atelectasis def: "Collapse of part of a lung associated with absence of inflation (air) of that part." [HPPO:probinson] synonym: "Partial or complete collapse of part or entire lung" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Pulmonary atelectasis" EXACT [] xref: MSH:D001261 xref: SNOMEDCT_US:46621007 xref: UMLS:C0004144 is_a: HP:0002088 ! Abnormal lung morphology created_by: doelkens creation_date: 2011-06-06T06:38:53Z [Term] id: HP:0100751 name: Esophageal neoplasm def: "A tumor (abnormal growth of tissue) of the esophagus." [] synonym: "Esophageal tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D004938 xref: NCIT:C3262 xref: SNOMEDCT_US:126817006 xref: UMLS:C0014859 is_a: HP:0002031 ! Abnormal esophagus morphology is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract is_a: HP:0012288 ! Neoplasm of head and neck created_by: doelkens creation_date: 2011-06-06T06:44:54Z [Term] id: HP:0100752 name: Abnormal liver lobulation def: "Formation of abnormal lobules (small masses of tissue) in the liver." [HPO:probinson] synonym: "Anomalous liver lobulation" EXACT [] synonym: "Hepatic anomalous lobulation" EXACT [] xref: SNOMEDCT_US:253811003 xref: UMLS:C0345286 is_a: HP:0030146 ! Abnormal liver parenchyma morphology created_by: doelkens creation_date: 2011-06-06T06:47:05Z [Term] id: HP:0100753 name: Schizophrenia def: "A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7%." [HPO:sdoelken] comment: Positive symptoms, such as delusions and hallucinations (especially of voices), are common, and any Schneiderian first-rank symptoms are particularly indicative of the illness. Negative symptoms include social withdrawal, impairment of ego boundaries, and loss of energy and initiative. Schizophrenia is diagnosed only if symptoms persist for at least one month. The illness can spontaneously remit, run a course with infrequent or frequent relapses, or become chronic. The prognosis has improved with antipsychotic drugs and with vigorous psychological and social management and rehabilitation. The many causes include genetic factors, environmental stress, and various triggering factors. xref: MSH:D012559 xref: SNOMEDCT_US:191526005 xref: SNOMEDCT_US:58214004 xref: UMLS:C0036341 is_a: HP:0000708 ! Behavioral abnormality created_by: doelkens creation_date: 2011-06-07T09:53:08Z [Term] id: HP:0100754 name: Mania def: "A state of abnormally elevated or irritable mood, arousal, and or energy levels." [PMID:15104084] synonym: "Manic" EXACT layperson [] xref: MSH:D001714 xref: SNOMEDCT_US:231494001 xref: UMLS:C0338831 is_a: HP:0000708 ! Behavioral abnormality created_by: doelkens creation_date: 2011-06-07T09:54:05Z [Term] id: HP:0100755 name: Abnormality of salivation synonym: "Abnormal spit" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of salivation" EXACT layperson [] xref: UMLS:C4021978 is_a: HP:0031815 ! Abnormal oral physiology created_by: doelkens creation_date: 2011-06-07T10:01:04Z [Term] id: HP:0100757 name: Pancreatoblastoma def: "A rare pediatric carcinoma of the pancreas." [HPO:sdoelken] xref: MSH:C537162 xref: SNOMEDCT_US:53618008 xref: UMLS:C0334489 is_a: HP:0002894 ! Neoplasm of the pancreas created_by: doelkens creation_date: 2011-06-07T10:05:52Z [Term] id: HP:0100758 name: Gangrene def: "A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis)." [ISBN:9780781770873] comment: This may occur after an injury or infection, or in people suffering from any chronic health problem affecting blood circulation. The prime cause of gangrene is reduced blood supply to the affected tissues, which results in cell death. Diabetes and long-term smoking increase the risk of suffering from gangrene. There are different types of gangrene with different symptoms, such as dry gangrene, wet gangrene, gas gangrene, internal gangrene and necrotising fasciitis. Treatment options include debridement (or, in severe cases, amputation) of the affected body parts, antibiotics, vascular surgery, maggot therapy or hyperbaric oxygen therapy. synonym: "Death of body tissue due to lack of blood flow or infection" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D005734 xref: SNOMEDCT_US:36024000 xref: SNOMEDCT_US:372070002 xref: UMLS:C0017086 is_a: HP:0025142 ! Constitutional symptom created_by: doelkens creation_date: 2011-06-07T10:19:11Z [Term] id: HP:0100759 name: Clubbing of fingers def: "Terminal broadening of the fingers (distal phalanges of the fingers)." [HPO:sdoelken] subset: hposlim_core synonym: "Clubbed fingers" EXACT layperson [] synonym: "Clubbing (hands)" EXACT layperson [] synonym: "Clubbing of fingers" EXACT layperson [] synonym: "Finger clubbing" EXACT layperson [] xref: MEDDRA:10016680 "Finger clubbing" xref: MSH:D010005 xref: SNOMEDCT_US:30760008 xref: UMLS:C0009080 is_a: HP:0001211 ! Abnormal fingertip morphology is_a: HP:0001217 ! Clubbing created_by: doelkens creation_date: 2011-06-07T10:25:26Z [Term] id: HP:0100760 name: Clubbing of toes def: "Terminal broadening of the toes (distal phalanges of the toes)." [HPO:sdoelken] synonym: "Clubbed toes" RELATED layperson [] synonym: "Clubbing of feet" EXACT layperson [] xref: MSH:D003025 xref: SNOMEDCT_US:249808002 xref: SNOMEDCT_US:397932003 xref: SNOMEDCT_US:53148007 xref: UMLS:C0009081 xref: UMLS:C3887489 is_a: HP:0001217 ! Clubbing is_a: HP:0010161 ! Abnormality of the phalanges of the toes created_by: doelkens creation_date: 2011-06-07T10:25:26Z [Term] id: HP:0100761 name: Visceral angiomatosis xref: UMLS:C4021977 is_a: HP:0007461 ! Hemangiomatosis created_by: doelkens creation_date: 2011-06-07T10:33:09Z [Term] id: HP:0100762 name: Hemobilia def: "Bleeding into the biliary tree." [HPO:sdoelken] synonym: "Haemobilia" EXACT [] xref: MSH:D006431 xref: SNOMEDCT_US:66556007 xref: UMLS:C0018994 is_a: HP:0012439 ! Abnormal biliary tract physiology created_by: doelkens creation_date: 2011-06-07T10:36:09Z [Term] id: HP:0100763 name: Abnormality of the lymphatic system alt_id: HP:0003012 def: "An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively." [HPO:probinson] synonym: "Lymphatic disease" RELATED [] xref: MSH:D008206 xref: SNOMEDCT_US:111590001 xref: SNOMEDCT_US:234087005 xref: SNOMEDCT_US:3305006 xref: SNOMEDCT_US:362971004 xref: UMLS:C0024228 xref: UMLS:C4021976 is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0002715 ! Abnormality of the immune system created_by: doelkens creation_date: 2011-06-07T10:40:36Z [Term] id: HP:0100764 name: Lymphangioma def: "Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor." [HPO:probinson, PMID:12376602] xref: MSH:D008202 xref: NCIT:C8965 xref: SNOMEDCT_US:253057002 xref: SNOMEDCT_US:254836000 xref: SNOMEDCT_US:400178008 xref: SNOMEDCT_US:69044001 xref: UMLS:C0024221 is_a: HP:0010566 ! Hamartoma is_a: HP:0100763 ! Abnormality of the lymphatic system created_by: doelkens creation_date: 2011-06-07T10:41:13Z [Term] id: HP:0100765 name: Abnormality of the tonsils def: "An abnormality of the tonsils." [HPO:probinson] xref: UMLS:C4021975 is_a: HP:0100763 ! Abnormality of the lymphatic system created_by: doelkens creation_date: 2011-06-07T10:43:35Z [Term] id: HP:0100766 name: Abnormal lymphatic vessel morphology def: "A structural anomaly of the vessel that contains or conveys lymph fluid." [https://en.wikipedia.org/wiki/Lymphatic_vessel] synonym: "Abnormality of the lymphatic vessels" EXACT [] xref: UMLS:C4021974 is_a: HP:0025015 ! Abnormal vascular morphology is_a: HP:0100763 ! Abnormality of the lymphatic system created_by: doelkens creation_date: 2011-06-07T10:44:54Z [Term] id: HP:0100767 name: Abnormality of the placenta def: "An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange." [HPO:probinson] synonym: "Placental issue" EXACT layperson [] xref: SNOMEDCT_US:169957005 xref: SNOMEDCT_US:33552005 xref: UMLS:C1306893 is_a: HP:0001194 ! Abnormalities of placenta or umbilical cord created_by: doelkens creation_date: 2011-06-07T11:03:03Z [Term] id: HP:0100768 name: Choriocarcinoma def: "A malignant, trophoblastic and aggressive cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs and belongs to the far end of the spectrum of gestational trophoblastic disease (GTD), a subset of germ cell tumors." [HPO:sdoelken] xref: MSH:D002822 xref: SNOMEDCT_US:188188009 xref: SNOMEDCT_US:44769000 xref: UMLS:C0008497 is_a: HP:0031502 ! Trophoblastic tumor is_a: HP:0100767 ! Abnormality of the placenta created_by: doelkens creation_date: 2011-06-07T11:05:40Z [Term] id: HP:0100769 name: Synovitis xref: MSH:D013585 xref: SNOMEDCT_US:416209007 xref: UMLS:C0039103 is_a: HP:0005262 ! Abnormality of the synovia created_by: doelkens creation_date: 2011-06-07T11:45:59Z [Term] id: HP:0100770 name: Hyperperistalsis def: "Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine." [HPO:probinson] synonym: "Stomach churning" BROAD layperson [http://www.healthhype.com/stomach-churning-sensation-feeling-causes-remedies.html, ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:271838002 xref: SNOMEDCT_US:80306002 xref: UMLS:C0232474 xref: UMLS:C0857071 is_a: HP:0030914 ! Abnormal peristalsis created_by: doelkens creation_date: 2011-06-07T11:53:08Z [Term] id: HP:0100771 name: Hypoperistalsis def: "Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract." [HPO:probinson] synonym: "Intestinal hypoperistalsis" RELATED [HPO:skoehler] xref: SNOMEDCT_US:77853002 xref: UMLS:C0232475 xref: UMLS:C4020700 is_a: HP:0030914 ! Abnormal peristalsis created_by: doelkens creation_date: 2011-06-07T11:53:08Z [Term] id: HP:0100773 name: Cartilage destruction synonym: "Cartilage destruction" EXACT layperson [] xref: UMLS:C4021973 is_a: HP:0002763 ! Abnormal cartilage morphology created_by: doelkens creation_date: 2011-06-07T05:13:50Z [Term] id: HP:0100774 name: Hyperostosis def: "Excessive growth or abnormal thickening of bone tissue." [HPO:probinson] comment: Hyperostosis refers to a localized bone overgrowth process (as opposed to sclerosis, which refers to a generalized disturbance with increased bone density). synonym: "Bone Hypertrophy" EXACT [] synonym: "Bone overgrowth" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D015576 xref: SNOMEDCT_US:13814009 xref: SNOMEDCT_US:203514008 xref: UMLS:C0020492 is_a: HP:0011842 ! Abnormality of skeletal morphology created_by: doelkens creation_date: 2011-06-07T05:17:19Z [Term] id: HP:0100775 name: Dural ectasia def: "A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level." [HPO:sdoelken] comment: Dural ectasia is one of the major manifestations of Marfan syndrome. It may cause low back pain, headaches and neurological signs such as weakness and loss of bowel and bladder function, but in many patients it is asymptomatic. It is also a cause of posterior vertebral scalloping present in radiographs in patients who are diagnosed with Neurofibromatosis. Dural ectasia may also manifest in Ehlers-Danlos Syndrome, cauda equina syndrome and in ankylosing spondylitis. xref: UMLS:C1851712 is_a: HP:0010303 ! Abnormal spinal meningeal morphology created_by: doelkens creation_date: 2011-06-07T05:22:13Z [Term] id: HP:0100776 name: Recurrent pharyngitis def: "An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis." [HPO:probinson] synonym: "Pharyngitis, recurrent" EXACT [] synonym: "Recurrent sore throat" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C0747556 is_a: HP:0002788 ! Recurrent upper respiratory tract infections is_a: HP:0025439 ! Pharyngitis created_by: doelkens creation_date: 2011-06-07T05:28:27Z [Term] id: HP:0100777 name: Exostoses def: "An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage." [HPO:probinson] synonym: "Formation of new noncancerous bone on top of existing bone" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: MSH:D005096 xref: SNOMEDCT_US:416189003 xref: SNOMEDCT_US:80400009 xref: UMLS:C1442903 is_a: HP:0010622 ! Neoplasm of the skeletal system created_by: doelkens creation_date: 2011-06-07T05:34:49Z [Term] id: HP:0100778 name: Cryoglobulinemia def: "Increased level of cryoglobulins in the blood. Cryoglobulins are abnormal immunoglobulins, especially IGG or IGM, that precipitate spontaneously when serum is cooled below 37 degrees Celsius." [HPO:probinson] synonym: "Cryoprecipitable immune complexes" EXACT [] xref: MSH:D003449 xref: SNOMEDCT_US:30911005 xref: UMLS:C0010403 is_a: HP:0005368 ! Abnormality of humoral immunity created_by: doelkens creation_date: 2011-06-07T05:42:38Z [Term] id: HP:0100779 name: Urogenital sinus anomaly def: "A rare birth defect in women where the urethra and vagina both open into a common channel." [HPO:curators] xref: UMLS:C4021972 is_a: HP:0000142 ! Abnormal vagina morphology is_a: HP:0000795 ! Abnormality of the urethra created_by: doelkens creation_date: 2011-06-07T05:45:10Z [Term] id: HP:0100780 name: Conjunctival hamartoma def: "A hamartoma (disordered proliferation of mature tissues) of the conjunctiva." [HPO:probinson] xref: UMLS:C4021849 is_a: HP:0000502 ! Abnormal conjunctiva morphology is_a: HP:0010568 ! Hamartoma of the eye created_by: doelkens creation_date: 2011-06-07T05:50:21Z [Term] id: HP:0100781 name: Abnormality of the sacroiliac joint def: "An anomaly of the sacroiliac joint." [HPO:probinson] xref: UMLS:C0262621 is_a: HP:0001367 ! Abnormal joint morphology is_a: HP:0002867 ! Abnormality of the ilium is_a: HP:0005107 ! Abnormal sacrum morphology created_by: doelkens creation_date: 2011-06-07T05:52:24Z [Term] id: HP:0100783 name: Breast aplasia def: "Failure to develop and congenital absence of the breast." [] synonym: "Absent breast" EXACT layperson [] synonym: "Congenital absence of breast" EXACT [] synonym: "Mammary gland aplasia" EXACT [] xref: SNOMEDCT_US:111324004 xref: UMLS:C0266009 is_a: HP:0010311 ! Aplasia/Hypoplasia of the breasts created_by: doelkens creation_date: 2011-06-07T06:02:34Z [Term] id: HP:0100784 name: Peripheral arteriovenous fistula xref: UMLS:C4021971 is_a: HP:0004947 ! Arteriovenous fistula created_by: doelkens creation_date: 2011-06-07T06:03:29Z [Term] id: HP:0100785 name: Insomnia synonym: "Difficulty staying or falling asleep" EXACT layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Fragmented sleep" NARROW layperson [] xref: MSH:D007319 xref: SNOMEDCT_US:193462001 xref: UMLS:C0917801 is_a: HP:0002360 ! Sleep disturbance created_by: doelkens creation_date: 2011-06-07T06:14:22Z [Term] id: HP:0100786 name: Hypersomnia synonym: "Excessive sleepiness" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D006970 xref: SNOMEDCT_US:77692006 xref: UMLS:C0917799 is_a: HP:0002360 ! Sleep disturbance created_by: doelkens creation_date: 2011-06-07T06:15:07Z [Term] id: HP:0100787 name: Prostate neoplasm xref: MSH:D011471 xref: SNOMEDCT_US:126906006 xref: UMLS:C0033578 is_a: HP:0008775 ! Abnormality of the prostate created_by: doelkens creation_date: 2011-06-07T06:29:49Z [Term] id: HP:0100788 name: Fused lips def: "Lack of separation of the upper and lower lips." [HPO:probinson] subset: hposlim_core synonym: "Adhesion of upper and lower lips" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Fused lips" EXACT layperson [] synonym: "Fusion of upper and lower lips" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021970 is_a: HP:0000159 ! Abnormal lip morphology created_by: doelkens creation_date: 2011-06-08T02:16:16Z [Term] id: HP:0100789 name: Torus palatinus def: "A bony protrusion present on the midline of the hard palate." [HPO:sdoelken] subset: hposlim_core synonym: "Maxillary torus" BROAD [ORCID:0000-0001-5889-4463] synonym: "Palatal tori" EXACT [ORCID:0000-0001-5889-4463] synonym: "Palatal torus" EXACT [ORCID:0000-0001-5889-4463] synonym: "Palate exostoses" EXACT [] synonym: "Prominent midpalatal ridge" RELATED [HPO:skoehler] xref: SNOMEDCT_US:244683008 xref: SNOMEDCT_US:46752004 xref: SNOMEDCT_US:697945009 xref: UMLS:C0266981 xref: UMLS:C0447996 xref: UMLS:C1840236 is_a: HP:0100737 ! Abnormal hard palate morphology created_by: doelkens creation_date: 2011-06-08T02:28:48Z [Term] id: HP:0100790 name: Hernia synonym: "Hernias" RELATED [HPO:skoehler] xref: MSH:D006547 xref: SNOMEDCT_US:414403008 xref: SNOMEDCT_US:52515009 xref: UMLS:C0019270 is_a: HP:0003549 ! Abnormality of connective tissue created_by: doelkens creation_date: 2011-06-08T02:33:37Z [Term] id: HP:0100792 name: Acantholysis def: "The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes." [HPO:sdoelken] comment: Acantolysis results in a positive Nikolsky's sign in which slight rubbing of the skin results in exfoliation of the outermost layer. synonym: "Nikolsky's sign" RELATED [] xref: MSH:D000051 xref: SNOMEDCT_US:43327007 xref: SNOMEDCT_US:441837004 xref: UMLS:C0000887 xref: UMLS:C0241128 is_a: HP:0011124 ! Abnormality of epidermal morphology created_by: doelkens creation_date: 2011-06-08T03:22:24Z [Term] id: HP:0100795 name: Abnormally straight spine def: "The absence of the normal curvature of the vertebral column." [HPO:sdoelken] subset: hposlim_core synonym: "Abnormally straight spine" EXACT layperson [] xref: UMLS:C4021969 is_a: HP:0010674 ! Abnormality of the curvature of the vertebral column created_by: doelkens creation_date: 2011-06-08T03:52:57Z [Term] id: HP:0100796 name: Orchitis def: "Testicular inflammation." [HPO:sdoelken] synonym: "Inflammation of testicles" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D009920 xref: SNOMEDCT_US:274718005 xref: UMLS:C0029191 is_a: HP:0000035 ! Abnormal testis morphology created_by: doelkens creation_date: 2011-06-08T04:18:06Z [Term] id: HP:0100797 name: Toenail dysplasia def: "An abnormality of the development of the toenails." [HPO:probinson] synonym: "Abnormal toenail development" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Dysplastic toenails" EXACT [] xref: UMLS:C3276623 is_a: HP:0002164 ! Nail dysplasia is_a: HP:0008388 ! Abnormal toenail morphology created_by: doelkens creation_date: 2011-06-08T04:23:37Z [Term] id: HP:0100798 name: Fingernail dysplasia def: "An abnormality of the development of the fingernails." [HPO:probinson] comment: If possible, a more precise term should be chosen for annotation. synonym: "Abnormal fingernail development" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Dysplastic fingernails" EXACT [] xref: UMLS:C4020952 is_a: HP:0001231 ! Abnormal fingernail morphology is_a: HP:0002164 ! Nail dysplasia created_by: doelkens creation_date: 2011-06-08T04:23:53Z [Term] id: HP:0100799 name: Neoplasm of the middle ear def: "A tumor (abnormal growth of tissue) of the middle ear." [HPO:probinson] synonym: "Middle ear tumor" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Neoplasia of the middle ear" EXACT [] xref: NCIT:C3262 xref: SNOMEDCT_US:127006003 xref: UMLS:C0345617 is_a: HP:0000370 ! Abnormality of the middle ear is_a: HP:0012780 ! Neoplasm of the ear created_by: doelkens creation_date: 2011-06-08T04:25:43Z [Term] id: HP:0100800 name: Aplasia/Hypoplasia of the pancreas def: "A congenital underdevelopment (aplasia or hypoplasia) of the pancreas." [HPO:sdoelken] synonym: "Absent/small pancreas" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped pancreas" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021968 is_a: HP:0012094 ! Abnormal pancreas size created_by: doelkens creation_date: 2011-06-09T11:45:58Z [Term] id: HP:0100801 name: Pancreatic aplasia def: "Aplasia of the pancreas." [HPO:sdoelken] synonym: "Absent pancreas" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021967 is_a: HP:0100800 ! Aplasia/Hypoplasia of the pancreas created_by: doelkens creation_date: 2011-06-09T11:46:59Z [Term] id: HP:0100802 name: Malposition of the stomach def: "Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation." [HPO:probinson, pmid:16465538] synonym: "Abnormal stomach location" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Gastric ectopia" EXACT [] synonym: "Gastric malposition" EXACT [] xref: UMLS:C1402983 is_a: HP:0002577 ! Abnormality of the stomach created_by: doelkens creation_date: 2011-06-09T11:52:49Z [Term] id: HP:0100803 name: Abnormality of the periungual region def: "An abnormality of the region around the nails of the fingers or toes." [HPO:probinson] xref: UMLS:C4021966 is_a: HP:0001597 ! Abnormality of the nail is_a: HP:0011356 ! Regional abnormality of skin created_by: doelkens creation_date: 2011-06-09T11:59:15Z [Term] id: HP:0100804 name: Ungual fibroma def: "Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold ) or subungual (originating under the nail plate)." [HPO:probinson, pmid:18815399] comment: Ungual fibromas are characteristic of tuberous sclerosis. synonym: "Koenen tumor" EXACT [] synonym: "Koenen's tumor" EXACT [] synonym: "Parungual fibromas" EXACT [] synonym: "Periungual fibroma" EXACT [] xref: SNOMEDCT_US:264561009 xref: UMLS:C0442880 is_a: HP:0010614 ! Fibroma is_a: HP:0100803 ! Abnormality of the periungual region is_a: HP:0100826 ! Neoplasm of the nail created_by: doelkens creation_date: 2011-06-09T11:59:55Z [Term] id: HP:0100805 name: obsolete Precocious menopause is_obsolete: true [Term] id: HP:0100806 name: Sepsis def: "Systemic inflammatory response to infection." [HPO:probinson] synonym: "Infection in blood stream" EXACT layperson [ORCID:0000-0002-6548-5200] xref: MSH:D018805 xref: UMLS:C0036690 is_a: HP:0010978 ! Abnormality of immune system physiology created_by: doelkens creation_date: 2011-06-09T01:05:51Z [Term] id: HP:0100807 name: Long fingers alt_id: HP:0006010 def: "The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand." [pmid:19125433] synonym: "Long fingers" EXACT layperson [] xref: UMLS:C1858091 is_a: HP:0001167 ! Abnormality of finger created_by: doelkens creation_date: 2011-06-09T01:13:15Z [Term] id: HP:0100808 name: Gastric diverticulum def: "An outpouching of the gastric wall." [HPO:probinson, pmid:22257431] comment: Gastric diverticulum may be asymptomatic or may present with a vague sensation of fullness or discomfort in the upper abdomen, or with acute upper gastrointestinal bleed or perforation. synonym: "Stomach diverticulum" EXACT [] xref: MSH:D013273 xref: SNOMEDCT_US:75198005 xref: UMLS:C0038355 is_a: HP:0002577 ! Abnormality of the stomach created_by: doelkens creation_date: 2011-06-09T01:43:31Z [Term] id: HP:0100809 name: Scalp tenderness def: "Pain or discomfort of the scalp elicited by palpation." [HPO:probinson] synonym: "Allodynia of scalp" NARROW [ORCID:0000-0001-5889-4463] synonym: "Scalp hypersensitivity" EXACT [] synonym: "Scalp pain" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Scalp tenderness" EXACT layperson [] xref: MEDDRA:10039521 "Scalp tenderness" xref: SNOMEDCT_US:75851004 xref: UMLS:C0151206 xref: UMLS:C0240940 xref: UMLS:C4073183 is_a: HP:0001965 ! Abnormality of the scalp created_by: doelkens creation_date: 2011-06-09T01:46:12Z [Term] id: HP:0100810 name: Pointed helix synonym: "Elfin ear" EXACT [] synonym: "Pointed ear" BROAD layperson [ORCID:0000-0001-5208-3432] synonym: "Spock's ear" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4020951 is_a: HP:0011039 ! Abnormality of the helix created_by: doelkens creation_date: 2011-06-09T01:51:46Z [Term] id: HP:0100811 name: Aplasia/Hypoplasia of the colon def: "Congenital absence or underdevelopment of the colon." [HPO:probinson] synonym: "Absent/small colon" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Absent/underdeveloped colon" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021964 is_a: HP:0002250 ! Abnormal large intestine morphology is_a: HP:0005245 ! Intestinal hypoplasia created_by: doelkens creation_date: 2011-06-09T01:54:57Z [Term] id: HP:0100812 name: Halitosis def: "Noticeably unpleasant odors exhaled in breathing." [HPO:sdoelken] subset: hposlim_core synonym: "Bad breath" EXACT layperson [] synonym: "Foetor ex ore" EXACT [] xref: MEDDRA:10006326 "Breath odour" xref: MSH:D006209 xref: SNOMEDCT_US:79879001 xref: UMLS:C0018520 is_a: HP:0025142 ! Constitutional symptom is_a: HP:0031815 ! Abnormal oral physiology created_by: doelkens creation_date: 2011-06-09T02:00:42Z [Term] id: HP:0100813 name: Testicular torsion def: "Testicular torsion is when the spermatic cord to a testicle twists, cutting off the blood supply. The most common symptom is acute testicular pain." [HPO:sdoelken] comment: Many of the symptoms of testicular torsion are similar to the infection epididymitis. synonym: "Spermatic cord torsion" EXACT [] xref: MSH:D013086 xref: SNOMEDCT_US:49198006 xref: SNOMEDCT_US:81996005 xref: UMLS:C0037856 is_a: HP:0000035 ! Abnormal testis morphology created_by: doelkens creation_date: 2011-06-09T02:03:12Z [Term] id: HP:0100814 name: Blue nevus synonym: "Congenital dermal melanocytosis" RELATED [] synonym: "Mongolian spot" EXACT layperson [] xref: MSH:D049328 xref: SNOMEDCT_US:40467008 xref: UMLS:C0265985 xref: UMLS:C4020699 is_a: HP:0003764 ! Nevus created_by: doelkens creation_date: 2011-06-09T02:15:28Z [Term] id: HP:0100816 name: Lip hyperpigmentation synonym: "Darkening of skin of the lips" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Hyperpigmentation of lip vermillion" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased pigmentation on the lips" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021963 is_a: HP:0007400 ! Irregular hyperpigmentation is_a: HP:0032453 ! Abnormal lip pigmentation created_by: doelkens creation_date: 2011-06-09T02:18:39Z [Term] id: HP:0100817 name: Renovascular hypertension alt_id: HP:0008741 def: "The presence of hypertension related to stenosis of the renal artery." [HPO:probinson] comment: Renal artery stenosis can lead to hypertension and chronic kidney disease (due to chronic renal ischemia). The hypertension is caused by activation of the renin-angiotensin-aldosterone system. synonym: "Hypertension due to renal artery hyperplasia" EXACT [] xref: MSH:D006978 xref: SNOMEDCT_US:123799005 xref: UMLS:C0020545 is_a: HP:0000822 ! Hypertension is_a: HP:0012211 ! Abnormal renal physiology created_by: doelkens creation_date: 2011-06-09T04:48:35Z [Term] id: HP:0100818 name: Long thorax def: "Increased inferior to superior extent of the thorax." [HPO:probinson] subset: hposlim_core synonym: "Long rib cage" EXACT layperson [ORCID:0000-0001-5208-3432] xref: SNOMEDCT_US:298710001 xref: UMLS:C0575484 is_a: HP:0100625 ! Enlarged thorax created_by: doelkens creation_date: 2011-06-09T04:51:15Z [Term] id: HP:0100819 name: Intestinal fistula def: "An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract." [HPO:probinson] subset: hposlim_core xref: MEDDRA:10022647 "Intestinal fistula" xref: MSH:D007412 xref: SNOMEDCT_US:38851006 xref: UMLS:C0021833 is_a: HP:0002242 ! Abnormal intestine morphology created_by: doelkens creation_date: 2011-06-09T04:57:15Z [Term] id: HP:0100820 name: Glomerulopathy def: "Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron." [HPO:sdoelken] synonym: "Diseased glomeruli" EXACT [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:197679002 xref: UMLS:C0268731 is_a: HP:0000095 ! Abnormality of renal glomerulus morphology created_by: doelkens creation_date: 2011-06-09T04:59:55Z [Term] id: HP:0100821 name: Urethrocele def: "The prolapse of the female urethra into the vagina." [HPO:sdoelken] xref: ICD-9:618.03 xref: SNOMEDCT_US:12068006 xref: UMLS:C0238502 is_a: HP:0000795 ! Abnormality of the urethra is_a: HP:0100672 ! Vaginal hernia created_by: doelkens creation_date: 2011-06-09T05:06:51Z [Term] id: HP:0100822 name: Rectocele def: "A Rectocele results from a tear in the rectovaginal septum (which is normally a tough, fibrous, sheet-like divider between the rectum and vagina). Rectal tissue bulges through this tear and into the vagina as a hernia. There are two main causes of this tear: childbirth, and hysterectomy." [HPO:sdoelken] xref: ICD-9:618.04 xref: MSH:D020047 xref: SNOMEDCT_US:447072005 xref: SNOMEDCT_US:62730001 xref: UMLS:C0149771 is_a: HP:0002035 ! Rectal prolapse is_a: HP:0100672 ! Vaginal hernia created_by: doelkens creation_date: 2011-06-09T05:07:41Z [Term] id: HP:0100823 name: Genital hernia xref: UMLS:C4021962 is_a: HP:0100790 ! Hernia created_by: doelkens creation_date: 2011-06-09T05:11:49Z [Term] id: HP:0100825 name: Cheilitis def: "Inflammation of the lip." [HPO:sdoelken] comment: It is associated with many conditions, including megaloblastic anemia from vitamin B12 deficiency, iron deficiency anemia (which in severe cases can lead to Plummer-Vinson syndrome) and oral candidiasis. It can also be a symptom of allergies, such as allergy to Balsam of Peru. Cheilitis can also be caused by taking the (retinoid) drug Isotretinoin. It may also be a pre-malignant lesion for squamous cell carcinoma. subset: hposlim_core synonym: "Inflammation of the lips" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Red and sore lips" RELATED layperson [ORCID:0000-0001-5889-4463] xref: MSH:D002613 xref: SNOMEDCT_US:7847004 xref: UMLS:C0007971 xref: UMLS:C4280288 is_a: HP:0000159 ! Abnormal lip morphology created_by: doelkens creation_date: 2011-06-09T05:18:41Z [Term] id: HP:0100826 name: Neoplasm of the nail def: "A tumor (abnormal growth of tissue) of the nail." [HPO:probinson] synonym: "Nail tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: NCIT:C3262 xref: UMLS:C4021961 is_a: HP:0001597 ! Abnormality of the nail is_a: HP:0011793 ! Neoplasm by anatomical site created_by: doelkens creation_date: 2011-06-09T05:31:21Z [Term] id: HP:0100827 name: Lymphocytosis alt_id: HP:0012141 def: "Increase in the number or proportion of lymphocytes in the blood." [HPO:sdoelken] synonym: "High lymphocyte count" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D008218 xref: SNOMEDCT_US:67023009 xref: UMLS:C0024282 is_a: HP:0001974 ! Leukocytosis is_a: HP:0040088 ! Abnormal lymphocyte count created_by: doelkens creation_date: 2011-06-09T05:32:57Z [Term] id: HP:0100828 name: Increased T cell count def: "An abnormal increase in the total number of T cells detected in the blood." [] synonym: "Increase in T cell count" EXACT [] synonym: "Increase in T cell number" EXACT [] xref: UMLS:C4021960 is_a: HP:0011839 ! Abnormal T cell count is_a: HP:0100827 ! Lymphocytosis created_by: doelkens creation_date: 2011-06-09T05:34:46Z [Term] id: HP:0100829 name: Galactorrhea def: "Spontaneous flow of milk from the breast, unassociated with childbirth or nursing." [HPO:sdoelken] synonym: "Galactorrhoea" EXACT [] synonym: "Spontaneous milk flow from breast" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D005687 xref: UMLS:C3665358 is_a: HP:0031094 ! Abnormal breast physiology created_by: doelkens creation_date: 2011-06-09T05:39:15Z [Term] id: HP:0100830 name: Round ear synonym: "Round ear" EXACT layperson [] xref: UMLS:C4021959 is_a: HP:0000377 ! Abnormality of the pinna created_by: doelkens creation_date: 2011-06-09T05:41:29Z [Term] id: HP:0100831 name: Abnormality of vitamin K metabolism def: "Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade." [HPO:probinson] synonym: "Abnormality of vitamin K metabolism" EXACT layperson [] xref: UMLS:C4021958 is_a: HP:0100508 ! Abnormality of vitamin metabolism created_by: doelkens creation_date: 2011-06-09T05:46:50Z [Term] id: HP:0100832 name: Vitreous floaters def: "Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent." [HPO:sdoelken] comment: Vitreous floaters are described as vitreous condensations (or vitreous debris or vitreous opacities) as a finding upon ophthalmological examination. Floaters can take many forms from little dots, circles, lines, to clouds or cobwebs. The floaters are created by a shadow of the floating vitreal debris that is projected onto the retina, which is described as a veil. synonym: "Eye floaters" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Flitting flies" EXACT [] synonym: "Mouches volantes" EXACT [] synonym: "Myodeopsia" EXACT [] synonym: "Myodesopsia" EXACT [] synonym: "Spots in front of eyes" EXACT layperson [] synonym: "Vitreous condensations" EXACT [] synonym: "Vitreous debris" EXACT [] synonym: "Vitreous opacities" EXACT [] synonym: "Vitreous veils" EXACT [] xref: SNOMEDCT_US:15013002 xref: SNOMEDCT_US:162278001 xref: SNOMEDCT_US:420999000 xref: UMLS:C0016242 xref: UMLS:C1720491 is_a: HP:0000504 ! Abnormality of vision is_a: HP:0004327 ! Abnormal vitreous humor morphology created_by: doelkens creation_date: 2011-06-09T05:58:09Z [Term] id: HP:0100833 name: Neoplasm of the small intestine def: "The presence of a neoplasm of the small intestine." [HPO:probinson] comment: An estimated 40% of small bowel cancers are adenocarcinomas, 40% are carcinoids, 15% are sarcomas (GI stromal tumors), and less than 5% are lymphomas. synonym: "Small intestine tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: NCIT:C3262 xref: SNOMEDCT_US:126832004 xref: UMLS:C0345832 is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract created_by: doelkens creation_date: 2011-06-09T06:03:02Z [Term] id: HP:0100834 name: Neoplasm of the large intestine def: "The presence of a neoplasm of the large intestine." [HPO:probinson] synonym: "Large intestine tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D015179 xref: NCIT:C3262 xref: SNOMEDCT_US:126837005 xref: UMLS:C0009404 is_a: HP:0002250 ! Abnormal large intestine morphology is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract created_by: doelkens creation_date: 2011-06-09T06:03:45Z [Term] id: HP:0100835 name: Benign neoplasm of the central nervous system synonym: "Benign neoplasm of the CNS" EXACT HP:0045077 [] xref: SNOMEDCT_US:92048008 xref: UMLS:C0347509 is_a: HP:0100006 ! Neoplasm of the central nervous system created_by: doelkens creation_date: 2011-06-09T06:08:47Z [Term] id: HP:0100836 name: Malignant neoplasm of the central nervous system def: "A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns." [HPO:probinson] synonym: "Malignant neoplasm of the CNS" EXACT HP:0045077 [] xref: SNOMEDCT_US:372062007 xref: UMLS:C0348374 is_a: HP:0100006 ! Neoplasm of the central nervous system created_by: doelkens creation_date: 2011-06-09T06:09:10Z [Term] id: HP:0100837 name: Atrophodermia vermiculata def: "Symmetrical vermiform facial atrophy that affects mainly the forehead, the chin, the ear lobes and helices. Atrophodermia vermiculata is characterized by erythema and follicular plugs on the cheeks, developing into painless reticular impressions." [HPO:probinson] comment: The onset of atrophodermia vermiculata is usually between the ages of 5 and 12 years. synonym: "Vermiculata atrophoderma" EXACT [] xref: MSH:C537412 xref: SNOMEDCT_US:400059005 xref: SNOMEDCT_US:400126005 xref: UMLS:C0263428 is_a: HP:0000987 ! Atypical scarring of skin is_a: HP:0011799 ! Abnormality of facial soft tissue created_by: doelkens creation_date: 2011-06-09T06:20:04Z [Term] id: HP:0100838 name: Recurrent cutaneous abscess formation def: "An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses." [HPO:probinson] xref: UMLS:C4021957 is_a: HP:0002722 ! Recurrent abscess formation is_a: HP:0005406 ! Recurrent bacterial skin infections is_a: HP:0031292 ! Cutaneous abscess created_by: doelkens creation_date: 2011-06-09T06:35:07Z [Term] id: HP:0100839 name: Hepatic agenesis def: "Absence of the liver owing to a failure of the liver to develop." [HPO:probinson] synonym: "Failed liver development" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Liver agenesis" EXACT [] xref: SNOMEDCT_US:3650004 xref: UMLS:C0266258 is_a: HP:0410042 ! Abnormal liver morphology created_by: doelkens creation_date: 2011-06-09T06:37:25Z [Term] id: HP:0100840 name: Aplasia/Hypoplasia of the eyebrow def: "Absence or underdevelopment of the eyebrow." [HPO:probinson] synonym: "Absence of eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Agenesis of eyebrow" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypotrophic eyebrow" EXACT [ORCID:0000-0001-5889-4463] synonym: "Lack of eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Missing eyebrow" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Sparse or absent eyebrows" RELATED layperson [HPO:skoehler] synonym: "Sparse to absent eyebrows" RELATED layperson [HPO:skoehler] synonym: "Sparse/absent eyebrows" RELATED layperson [HPO:skoehler] xref: UMLS:C1848765 xref: UMLS:C2266639 xref: UMLS:C3551430 xref: UMLS:C4021956 is_a: HP:0000534 ! Abnormal eyebrow morphology created_by: doelkens creation_date: 2011-06-09T06:40:51Z [Term] id: HP:0100841 name: Microgastria def: "A developmental anomaly wtih a small tubular or saccular midline stomach." [pmid:10067744] comment: Patients with microgastria usually have poor growth, inadequate food consumption, or a complication of the small gastric cavity and gastroesophageal reflux, including frequent vomiting or pneumonia. xref: SNOMEDCT_US:83714006 xref: UMLS:C0266150 is_a: HP:0002577 ! Abnormality of the stomach created_by: doelkens creation_date: 2011-06-09T06:42:10Z [Term] id: HP:0100842 name: Septo-optic dysplasia def: "Underdevelopment of the optic nerve and absence of the septum pellucidum." [HPO:sdoelken] synonym: "De Morsier syndrome" EXACT [] xref: MSH:D025962 xref: SNOMEDCT_US:7611002 xref: UMLS:C0338503 is_a: HP:0000609 ! Optic nerve hypoplasia is_a: HP:0001331 ! Absent septum pellucidum created_by: doelkens creation_date: 2011-06-09T06:44:12Z [Term] id: HP:0100843 name: obsolete Glioblastoma is_obsolete: true replaced_by: HP:0012174 creation_date: 2011-06-09T06:47:23Z [Term] id: HP:0100844 name: Pancreatic fistula xref: MSH:D010185 xref: SNOMEDCT_US:25803005 xref: UMLS:C0030290 is_a: HP:0012090 ! Abnormal pancreas morphology created_by: doelkens creation_date: 2011-06-09T06:50:10Z [Term] id: HP:0100845 name: Anaphylactic shock def: "An acute hypersensitivity reaction due to exposure to a previously encountered antigen." [HPO:probinson] comment: Anaphylaxis may lead to rapidly progressing urticaria, respiratory distress, vascular collapse, systemic shock, and death if untreated. synonym: "Anaphylaxis" EXACT layperson [] xref: MSH:D000707 xref: SNOMEDCT_US:39579001 xref: UMLS:C0002792 is_a: HP:0100326 ! Immunologic hypersensitivity created_by: doelkens creation_date: 2011-06-09T06:54:40Z [Term] id: HP:0100847 name: Palmoplantar pustulosis def: "A chronic, relapsing, pustular eruption that is localized to the palms and soles." [HPO:probinson, pmid:23209116] comment: There are recurrent and painful eruptions of pustules on the palms and the soles of feet that may resolve with red-brown discoloration. synonym: "Palmoplantar pustules" EXACT [] synonym: "Pustulosis of palms and soles" EXACT [] synonym: "Pustulosis palmaris et plantaris" EXACT [] xref: MEDDRA:10050185 "Palmoplantar pustulosis" xref: MSH:D011565 xref: SNOMEDCT_US:27520001 xref: UMLS:C0030246 is_a: HP:0011356 ! Regional abnormality of skin is_a: HP:0200039 ! Pustule created_by: doelkens creation_date: 2011-06-09T07:07:06Z [Term] id: HP:0100848 name: Neoplasm of the male external genitalia def: "A tumor (abnormal growth of tissue) of the male external genitalia." [HPO:sdoelken] synonym: "Neoplasia of the male external genitalia" EXACT [] xref: NCIT:C3262 xref: UMLS:C4020950 is_a: HP:0000032 ! Abnormality of male external genitalia is_a: HP:0010787 ! Genital neoplasm created_by: doelkens creation_date: 2011-06-17T01:33:06Z [Term] id: HP:0100849 name: Neoplasm of the scrotum def: "A tumor (abnormal growth of tissue) of the scrotum." [HPO:probinson] synonym: "Neoplasia of the scrotum" EXACT [] synonym: "Scrotum tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: NCIT:C3262 xref: SNOMEDCT_US:126905005 xref: UMLS:C0341790 is_a: HP:0000045 ! Abnormality of the scrotum is_a: HP:0100848 ! Neoplasm of the male external genitalia created_by: doelkens creation_date: 2011-06-17T01:37:49Z [Term] id: HP:0100850 name: Neoplasm of the penis def: "A tumor (abnormal growth of tissue) of the penis." [HPO:probinson] synonym: "Neoplasia of the penis" EXACT [] synonym: "Penis tumor" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D010412 xref: NCIT:C3262 xref: SNOMEDCT_US:126896003 xref: UMLS:C0030849 is_a: HP:0000036 ! Abnormality of the penis is_a: HP:0100848 ! Neoplasm of the male external genitalia created_by: doelkens creation_date: 2011-06-17T01:38:16Z [Term] id: HP:0100851 name: Abnormal emotion/affect behavior def: "An abnormality of emotional behaviour." [HPO:sdoelken] synonym: "Abnormal emotion/affect behaviour" EXACT [] xref: UMLS:C4020949 is_a: HP:0000708 ! Behavioral abnormality created_by: doelkens creation_date: 2011-06-23T11:07:13Z [Term] id: HP:0100852 name: Abnormal fear/anxiety-related behavior alt_id: HP:0001296 def: "An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response." [HPO:sdoelken] xref: UMLS:C4018849 is_a: HP:0031466 ! Impairment in personality functioning created_by: doelkens creation_date: 2011-06-23T11:13:16Z [Term] id: HP:0100853 name: Hypoplastic areola alt_id: HP:0006609 def: "Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple." [HPO:probinson] subset: hposlim_core synonym: "Hypoplastic areolae" EXACT [] xref: UMLS:C3276032 is_a: HP:0032314 ! Abnormal areolar morphology created_by: doelkens creation_date: 2011-11-30T09:41:44Z [Term] id: HP:0100854 name: Aplasia of the musculature def: "Absence of the musculature." [HPO:sdoelken] synonym: "Absent musculature" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021955 is_a: HP:0001460 ! Aplasia/Hypoplasia involving the skeletal musculature created_by: doelkens creation_date: 2011-11-30T09:51:08Z [Term] id: HP:0100855 name: Triceps hypoplasia def: "Hypoplasia of the triceps muscle." [HPO:sdoelken] synonym: "Small triceps" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Underdeveloped triceps" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021954 is_a: HP:0009784 ! Aplasia/Hypoplasia of the triceps is_a: HP:0030239 ! Hypoplasia of the upper arm musculature created_by: doelkens creation_date: 2011-11-30T09:56:14Z [Term] id: HP:0100856 name: Poorly ossified vertebrae def: "Decreased ossification of the vertebral bodies." [HPO:sdoelken] xref: UMLS:C4021953 is_a: HP:0004599 ! Absent or minimally ossified vertebral bodies created_by: doelkens creation_date: 2011-11-30T09:59:32Z [Term] id: HP:0100857 name: Flat sella turcica def: "An abnormally flat sella turcica." [HPO:sdoelken] xref: UMLS:C4021952 is_a: HP:0002681 ! Deformed sella turcica created_by: doelkens creation_date: 2011-11-30T10:02:07Z [Term] id: HP:0100858 name: Dilatation of celiac artery def: "Abnormal outpouching or sac-like dilatation in the wall of the celiac artery." [HPO:probinson] comment: Aneurysm is considered a severe form of dilatation. synonym: "Celiac artery aneurysm" NARROW [] xref: SNOMEDCT_US:111290000 xref: UMLS:C0264969 is_a: HP:0002636 ! Dilatation of an abdominal artery created_by: doelkens creation_date: 2011-11-30T10:07:35Z [Term] id: HP:0100859 name: Dilatation of superior mesenteric artery def: "Abnormal outpouching or sac-like dilatation in the wall of the superior mesenteric artery ." [HPO:probinson] comment: Aneurysm is considered a severe form of dilatation. synonym: "Superior mesenteric artery aneurysm" NARROW [] xref: SNOMEDCT_US:65498003 xref: UMLS:C0264974 is_a: HP:0011934 ! Dilatation of mesenteric artery created_by: doelkens creation_date: 2011-11-30T10:07:35Z [Term] id: HP:0100860 name: Dilatation of Inferior mesenteric artery def: "Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery ." [HPO:probinson] comment: Aneurysm is considered a severe form of dilatation. synonym: "Inferior mesenteric artery aneurysm" NARROW [] xref: SNOMEDCT_US:195289005 xref: UMLS:C0340625 is_a: HP:0011934 ! Dilatation of mesenteric artery created_by: doelkens creation_date: 2011-11-30T10:07:35Z [Term] id: HP:0100861 name: Sclerotic vertebral body alt_id: HP:0004578 def: "Increase in bone density of the vertebral body." [HPO:probinson] synonym: "Vertebral body sclerosis" EXACT [] xref: UMLS:C4021951 is_a: HP:0003468 ! Abnormal vertebral morphology created_by: doelkens creation_date: 2011-11-30T10:12:34Z [Term] id: HP:0100862 name: Aplasia of the femoral head synonym: "Absent femoral head" EXACT [ORCID:0000-0001-5208-3432] xref: UMLS:C4021950 is_a: HP:0009108 ! Aplasia/Hypoplasia involving the femoral head and neck created_by: doelkens creation_date: 2011-11-30T10:47:46Z [Term] id: HP:0100863 name: Aplasia of the femoral neck synonym: "Absent neck of thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021949 is_a: HP:0009108 ! Aplasia/Hypoplasia involving the femoral head and neck created_by: doelkens creation_date: 2011-11-30T10:48:08Z [Term] id: HP:0100864 name: Short femoral neck alt_id: HP:0003032 alt_id: HP:0008779 alt_id: HP:0008793 def: "An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [HPO:probinson] subset: hposlim_core synonym: "Hypoplasia of the femoral neck" EXACT [] synonym: "Hypoplastic femoral neck" EXACT [] synonym: "Short femoral necks" EXACT [] synonym: "Short neck of thighbone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1836184 is_a: HP:0003367 ! Abnormality of the femoral neck is_a: HP:0009108 ! Aplasia/Hypoplasia involving the femoral head and neck created_by: doelkens creation_date: 2011-11-30T10:48:34Z [Term] id: HP:0100865 name: Broad ischia alt_id: HP:0008814 def: "Increased width of the ischium, which forms the lower and back part of the hip bone." [HPO:probinson] xref: UMLS:C1836868 is_a: HP:0003174 ! Abnormality of the ischium created_by: doelkens creation_date: 2011-11-30T11:09:10Z [Term] id: HP:0100866 name: Short iliac bones synonym: "Short pelvis bones" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C1849063 is_a: HP:0000946 ! Hypoplastic ilia created_by: doelkens creation_date: 2011-11-30T11:11:24Z [Term] id: HP:0100867 name: Duodenal stenosis alt_id: HP:0005205 alt_id: HP:0010449 def: "The narrowing or partial blockage of a portion of the duodenum." [HPO:sdoelken] subset: hposlim_core synonym: "Duodenal stenosis/atresia" EXACT [] xref: MEDDRA:10050094 "Duodenal stenosis" xref: MSH:C535720 xref: SNOMEDCT_US:73120006 xref: UMLS:C0238093 xref: UMLS:C1860791 is_a: HP:0002246 ! Abnormality of the duodenum is_a: HP:0012848 ! Small intestinal stenosis created_by: doelkens creation_date: 2011-11-30T11:13:27Z [Term] id: HP:0100869 name: Palmar telangiectasia alt_id: HP:0007399 def: "The presence of telangiectases on the skin of palm of hand." [HPO:probinson] synonym: "Telangiectases of palms and soles" EXACT [] synonym: "Teleangiectases of palms" EXACT [] xref: UMLS:C4020948 is_a: HP:0040211 ! Abnormality of the skin of the palm is_a: HP:0100585 ! Telangiectasia of the skin created_by: doelkens creation_date: 2011-11-30T11:19:45Z [Term] id: HP:0100870 name: Plantar telangiectasia def: "Telangiectases (small dilated blood vessels) located on the skin of sole of foot." [HPO:probinson] synonym: "Plantar teleangiectasia" EXACT [] synonym: "Telangiectases of soles" EXACT [] synonym: "Teleangiectases of soles" EXACT [] xref: UMLS:C4020947 is_a: HP:0100585 ! Telangiectasia of the skin is_a: HP:0100872 ! Abnormality of the plantar skin of foot created_by: doelkens creation_date: 2011-11-30T11:19:59Z [Term] id: HP:0100871 name: Abnormality of the palm def: "An abnormality of the palm, that is, of the front of the hand." [HPO:probinson] synonym: "Abnormality of the palm" EXACT layperson [] xref: UMLS:C4021948 is_a: HP:0001155 ! Abnormality of the hand created_by: doelkens creation_date: 2011-11-30T11:21:16Z [Term] id: HP:0100872 name: Abnormality of the plantar skin of foot alt_id: HP:0010613 def: "An abnormality of the plantar part of foot, that is of the soles of the feet." [HPO:probinson] synonym: "Minor feet anomalies" EXACT [] xref: UMLS:C4020946 is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0011356 ! Regional abnormality of skin created_by: doelkens creation_date: 2011-11-30T11:23:05Z [Term] id: HP:0100874 name: Thick hair def: "Increased density of hairs, i.e., and elevated number of hairs per unit area." [HPO:probinson] subset: hposlim_core synonym: "Increased follicular density" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased hair density" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Thick hair" EXACT layperson [] xref: UMLS:C4073184 is_a: HP:0011357 ! Abnormality of hair density created_by: doelkens creation_date: 2011-12-01T02:13:58Z [Term] id: HP:0100875 name: Hemimacroglossia def: "Increased length and width of one half of the tounge." [HPO:sdoelken] synonym: "Hemiglossal hyperplasia" BROAD [ORCID:0000-0001-5889-4463] synonym: "Hemiglossal hypertrophy" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hyperplasia of half of the tongue" BROAD [ORCID:0000-0001-5889-4463] synonym: "Hypertrophy of half of the tongue" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased size of half of the tongue" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Large half of tongue" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021947 xref: UMLS:C4280287 is_a: HP:0000158 ! Macroglossia created_by: doelkens creation_date: 2011-12-01T02:15:01Z [Term] id: HP:0100876 name: Infra-orbital crease alt_id: HP:0007796 def: "Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma." [pmid:19125427] comment: This feature is often found in the presence of hypoplasia of the malar process of the maxilla or zygoma, but should be coded separately. subset: hposlim_core synonym: "Crease in skin under the eye" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Groove in skin under the eye" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Infraorbital crease" EXACT [] synonym: "Infraorbital creases" EXACT [] synonym: "Underorbital skin creases" EXACT [] xref: UMLS:C1857280 is_a: HP:0000606 ! Abnormality of the periorbital region created_by: doelkens creation_date: 2011-12-01T02:21:22Z [Term] id: HP:0100877 name: Renal diverticulum def: "Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system." [HPO:sdoelken] synonym: "Caliceal diverticulum" EXACT [] synonym: "Pelvic diverticulum" EXACT [] synonym: "Renal pelvic diverticulum" EXACT [] xref: SNOMEDCT_US:433036004 xref: UMLS:C2315541 is_a: HP:0000107 ! Renal cyst is_a: HP:0004742 ! Abnormal renal collecting system morphology created_by: doelkens creation_date: 2011-12-01T02:29:09Z [Term] id: HP:0100878 name: Enlarged uterus synonym: "Enlarged uterus" EXACT layperson [] xref: SNOMEDCT_US:198319004 xref: UMLS:C0151994 is_a: HP:0031105 ! Abnormal uterus morphology created_by: doelkens creation_date: 2011-12-01T02:32:26Z [Term] id: HP:0100879 name: Enlarged ovaries synonym: "Enlarged ovaries" EXACT layperson [] xref: SNOMEDCT_US:66998000 xref: UMLS:C0392039 is_a: HP:0031065 ! Abnormal ovarian morphology created_by: doelkens creation_date: 2011-12-01T02:33:12Z [Term] id: HP:0100880 name: Nephrogenic rest def: "Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney." [HPO:sdoelken] comment: Though NR are best known as precursors of Wilms tumor (WT), many alternative fates are observed, and most rests are destined for eventual atresia. Nephroblastomatosis refers to the presence of multifocal or diffuse nephrogenic rests. xref: SNOMEDCT_US:405933007 xref: UMLS:C1320468 is_a: HP:0012210 ! Abnormal renal morphology created_by: doelkens creation_date: 2011-12-01T02:41:34Z [Term] id: HP:0100881 name: Congenital mesoblastic nephroma def: "Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue." [HPO:sdoelken] comment: Congenital mesoblastic nephroma is more common in males. xref: MSH:D018201 xref: UMLS:C1332965 is_a: HP:0003549 ! Abnormality of connective tissue is_a: HP:0011794 ! Embryonal renal neoplasm created_by: doelkens creation_date: 2011-12-01T02:44:52Z [Term] id: HP:0100882 name: Fibrous hamartoma def: "A rare, benign soft tissue tumor that typically occurs within the first two years of life." [HPO:sdoelken] synonym: "Fibrous hamartoma of infancy" EXACT [] xref: SNOMEDCT_US:22257004 xref: SNOMEDCT_US:56364004 xref: UMLS:C0265979 is_a: HP:0010566 ! Hamartoma created_by: doelkens creation_date: 2011-12-01T02:48:30Z [Term] id: HP:0100883 name: Chorangioma def: "Hamartoma-like growth in the placenta consisting of blood vessels." [HPO:sdoelken, PMID:20594143, PMID:24251055] comment: Chorioangiomas (also known as placental hemangiomas) are benign hamartomatous growth of the placenta comprising vascular tissue. The classification is controversial due to its pathologic features and clinical implications. Some authors call placental hemangiomas as true nontrophoblastic neoplastic tissues. As this abnormal vascular growth seems like the native placental tissue and it does not metastasize, some authors call it just as placental hamartoma. The general incidence is approximately 0.6 percent. Giant chorioangiomas with a diameter over 5 cm are very rare, with an incidence of one in 16-50 thousand pregnancies. Small tumors do not cause any adverse outcomes and they are asymptomatic. In contrast, tumors larger than 5 cm may lead to several complications. synonym: "Placental hamartoma" EXACT [] xref: MSH:D006391 xref: SNOMEDCT_US:2099007 xref: SNOMEDCT_US:237268002 xref: SNOMEDCT_US:699948001 xref: UMLS:C0677608 is_a: HP:0010566 ! Hamartoma is_a: HP:0100767 ! Abnormality of the placenta created_by: doelkens creation_date: 2011-12-01T02:50:56Z [Term] id: HP:0100884 name: Compensatory scoliosis def: "A scoliosis which is the results of a difference in leg length (which might be due to hemihypertrophy or hemihypotrophy of a leg) and the resulting tilting of the pelvis. If untreated this will lead to the development of scoliosis over time." [HPO:sdoelken] xref: SNOMEDCT_US:203645000 xref: UMLS:C0343292 is_a: HP:0002650 ! Scoliosis created_by: doelkens creation_date: 2011-12-01T02:56:41Z [Term] id: HP:0100885 name: Lateral venous anomaly def: "Persistence of the embryonic dorsal or sciatic vein system that normally should have involuted around the tenth to twelfth week of intrauterine life." [HPO:sdoelken] synonym: "Lateral marginal vein of Servelle" EXACT [] synonym: "Vein of servelle" EXACT [] xref: UMLS:C4020945 is_a: HP:0001015 ! Prominent superficial veins created_by: doelkens creation_date: 2011-12-01T03:16:02Z [Term] id: HP:0100886 name: Abnormality of globe location def: "An abnormality in the placement of the ocular globe (eyeball)." [HPO:sdoelken] synonym: "Abnormality of eyeball location" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of eyeball position" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of globe position" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4021946 is_a: HP:0012372 ! Abnormal eye morphology created_by: doelkens creation_date: 2011-12-13T04:25:29Z [Term] id: HP:0100887 name: Abnormality of globe size alt_id: HP:0010725 def: "An abnormality in the size of the ocular globe (eyeball)." [HPO:sdoelken] synonym: "Abnormality of eyeball size" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Eye size difference" EXACT layperson [] xref: UMLS:C4021945 is_a: HP:0012372 ! Abnormal eye morphology created_by: doelkens creation_date: 2011-12-13T04:25:29Z [Term] id: HP:0100888 name: Interdigital loops xref: UMLS:C4021944 is_a: HP:0007477 ! Abnormal dermatoglyphics created_by: doelkens creation_date: 2011-12-01T04:50:01Z [Term] id: HP:0100889 name: Abnormality of the ductus choledochus def: "An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder." [HPO:sdoelken] synonym: "Abnormality of the common bile duct" EXACT [] xref: UMLS:C4020944 is_a: HP:0012440 ! Abnormal biliary tract morphology created_by: doelkens creation_date: 2011-12-01T04:52:13Z [Term] id: HP:0100890 name: Cyst of the ductus choledochus synonym: "Choledochal cyst" EXACT [] xref: MSH:D015529 xref: SNOMEDCT_US:397868007 xref: SNOMEDCT_US:398197009 xref: SNOMEDCT_US:440471007 xref: UMLS:C0008340 is_a: HP:0100889 ! Abnormality of the ductus choledochus created_by: doelkens creation_date: 2011-12-01T05:02:35Z [Term] id: HP:0100891 name: Bifid xiphoid process def: "A cleft of the xiphoid process of the sternum." [HPO:sdoelken] synonym: "Bifid xiphisternum" EXACT [] xref: UMLS:C4020943 is_a: HP:0100892 ! Abnormality of the xiphoid process created_by: doelkens creation_date: 2011-12-01T05:07:17Z [Term] id: HP:0100892 name: Abnormality of the xiphoid process def: "An abnormality of the xiphoid process of the sternum." [HPO:sdoelken] xref: UMLS:C4021943 is_a: HP:0000766 ! Abnormality of the sternum created_by: doelkens creation_date: 2011-12-01T05:09:03Z [Term] id: HP:0100893 name: Prominent xiphoid process def: "Increased prominence of the xiphoid process of the sternum." [HPO:probinson] synonym: "Prominent xiphisternum" EXACT [] xref: UMLS:C4020942 is_a: HP:0100892 ! Abnormality of the xiphoid process created_by: doelkens creation_date: 2011-12-01T05:10:05Z [Term] id: HP:0100894 name: Broad xiphoid process def: "Increased side-to-side width of the xiphoid process of the sternum." [HPO:probinson] synonym: "Broad xiphisternum" EXACT [] xref: UMLS:C4020901 is_a: HP:0100892 ! Abnormality of the xiphoid process created_by: doelkens creation_date: 2011-12-01T05:10:27Z [Term] id: HP:0100896 name: Rectal polyposis alt_id: HP:0100897 def: "The presence of multiple rectal hyperplastic/adenomatous polyps." [HPO:probinson] synonym: "Multiple rectal polyps" EXACT [] synonym: "Rectal polyps" EXACT [] xref: SNOMEDCT_US:39772007 xref: UMLS:C0034887 is_a: HP:0030255 ! Large intestinal polyposis is_a: HP:0100743 ! Neoplasm of the rectum created_by: doelkens creation_date: 2011-12-01T05:33:49Z [Term] id: HP:0100898 name: Connective tissue nevi def: "Connective tissue nevi are hamartomas in which one or several components of the dermis is altered." [HPO:sdoelken] comment: Lesions in which collagen predominates are called collagenomas; lesions in which elastin predominates are called elastomas. A nevus mucinosis is a lesion in which an alteration in the amount of dermal glycosaminoglycan is present. The name nevus mucinosis is also used for lesions in which an alteration in more than one dermal component is present. Connective tissue nevi may be solitary or multiple, sporadic or inherited. They may occur as isolated skin lesions, or they may be associated with a number of syndromes. xref: MSH:C562737 xref: SNOMEDCT_US:22858003 xref: SNOMEDCT_US:400091006 xref: UMLS:C0334083 is_a: HP:0003549 ! Abnormality of connective tissue is_a: HP:0003764 ! Nevus created_by: doelkens creation_date: 2011-12-01T05:39:30Z [Term] id: HP:0100899 name: Sclerosis of finger phalanx def: "An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Increased bone density in the finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the phalanges of the hand" EXACT [] xref: UMLS:C4020941 is_a: HP:0004054 ! Sclerosis of hand bone is_a: HP:0005918 ! Abnormal finger phalanx morphology created_by: doelkens creation_date: 2011-12-02T09:34:05Z [Term] id: HP:0100900 name: Sclerosis of the distal phalanx of the 2nd finger synonym: "Increased bone density in the outermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021942 is_a: HP:0100915 ! Sclerosis of distal finger phalanx is_a: HP:0100918 ! Sclerosis of 2nd finger phalanx [Term] id: HP:0100901 name: Sclerosis of the distal phalanx of the 3rd finger synonym: "Increased bone density in the outermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021941 is_a: HP:0100915 ! Sclerosis of distal finger phalanx is_a: HP:0100919 ! Sclerosis of 3rd finger phalanx [Term] id: HP:0100902 name: Sclerosis of the distal phalanx of the 4th finger synonym: "Increased bone density in the outermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021940 is_a: HP:0100915 ! Sclerosis of distal finger phalanx is_a: HP:0100920 ! Sclerosis of 4th finger phalanx [Term] id: HP:0100903 name: Sclerosis of the distal phalanx of the 5th finger synonym: "Increased bone density in the outermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased bone density in the outermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased bone density in the outermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021939 is_a: HP:0100915 ! Sclerosis of distal finger phalanx is_a: HP:0100921 ! Sclerosis of 5th finger phalanx [Term] id: HP:0100904 name: Sclerosis of the middle phalanx of the 2nd finger synonym: "Increased bone density in the middle bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021938 is_a: HP:0100916 ! Sclerosis of middle finger phalanx is_a: HP:0100918 ! Sclerosis of 2nd finger phalanx [Term] id: HP:0100905 name: Sclerosis of the middle phalanx of the 3rd finger synonym: "Increased bone density in the middle bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021937 is_a: HP:0100916 ! Sclerosis of middle finger phalanx is_a: HP:0100919 ! Sclerosis of 3rd finger phalanx [Term] id: HP:0100906 name: Sclerosis of the middle phalanx of the 4th finger synonym: "Increased bone density in the middle bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021936 is_a: HP:0100916 ! Sclerosis of middle finger phalanx is_a: HP:0100920 ! Sclerosis of 4th finger phalanx [Term] id: HP:0100907 name: Sclerosis of the middle phalanx of the 5th finger synonym: "Increased bone density in the middle bone of the little finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased bone density in the middle bone of the pinkie finger" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased bone density in the middle bone of the pinky finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021935 is_a: HP:0100916 ! Sclerosis of middle finger phalanx is_a: HP:0100921 ! Sclerosis of 5th finger phalanx [Term] id: HP:0100908 name: Sclerosis of the proximal phalanx of the 2nd finger synonym: "Increased bone density in the innermost bone of the index finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021934 is_a: HP:0100917 ! Sclerosis of proximal finger phalanx is_a: HP:0100918 ! Sclerosis of 2nd finger phalanx [Term] id: HP:0100909 name: Sclerosis of the proximal phalanx of the 3rd finger synonym: "Increased bone density in innermost bone of the middle finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021933 is_a: HP:0100917 ! Sclerosis of proximal finger phalanx is_a: HP:0100919 ! Sclerosis of 3rd finger phalanx [Term] id: HP:0100910 name: Sclerosis of the proximal phalanx of the 4th finger synonym: "Increased bone density in the innermost bone of the ring finger" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021932 is_a: HP:0100917 ! Sclerosis of proximal finger phalanx is_a: HP:0100920 ! Sclerosis of 4th finger phalanx [Term] id: HP:0100911 name: Sclerosis of the proximal phalanx of the 5th finger synonym: "Increased bone density in innermost little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased bone density in innermost pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased bone density in innermost pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021931 is_a: HP:0100917 ! Sclerosis of proximal finger phalanx is_a: HP:0100921 ! Sclerosis of 5th finger phalanx [Term] id: HP:0100912 name: Sclerosis of the distal phalanx of the thumb def: "An elevation of bone density in the distal phalanx of the thumb." [HPO:probinson] comment: Sclerosis can be identified on a radiograph as an area of increased opacity. synonym: "Increased bone density in the outermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021930 is_a: HP:0100915 ! Sclerosis of distal finger phalanx is_a: HP:0100922 ! Sclerosis of thumb phalanx [Term] id: HP:0100913 name: Sclerosis of the proximal phalanx of the thumb def: "An elevation of bone density in the proximal phalanx of the thumb." [HPO:probinson] synonym: "Increased bone density in the innermost bone of the thumb" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021929 is_a: HP:0100916 ! Sclerosis of middle finger phalanx is_a: HP:0100922 ! Sclerosis of thumb phalanx [Term] id: HP:0100914 name: Sclerosis of the 1st metacarpal synonym: "Increased bone density in 1st long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021928 is_a: HP:0100917 ! Sclerosis of proximal finger phalanx [Term] id: HP:0100915 name: Sclerosis of distal finger phalanx def: "An elevation in bone density in one or more distal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Increased bone density in outermost finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the distal phalanges of the hand" EXACT [] xref: UMLS:C4020940 is_a: HP:0009832 ! Abnormal distal phalanx morphology of finger is_a: HP:0100899 ! Sclerosis of finger phalanx [Term] id: HP:0100916 name: Sclerosis of middle finger phalanx def: "An elevation in bone density in one or more middle phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Increased bone density in middle finger bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the middle phalanges of the hand" EXACT [] xref: UMLS:C4020939 is_a: HP:0009833 ! Abnormal middle phalanx morphology of the hand is_a: HP:0100899 ! Sclerosis of finger phalanx [Term] id: HP:0100917 name: Sclerosis of proximal finger phalanx def: "An elevation in bone density in one or more proximal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Increased bone density in innermost finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the proximal phalanges of the hand" EXACT [] xref: UMLS:C4020938 is_a: HP:0009834 ! Abnormal proximal phalanx morphology of the hand is_a: HP:0100899 ! Sclerosis of finger phalanx [Term] id: HP:0100918 name: Sclerosis of 2nd finger phalanx def: "An elevation in bone density in one or more phalanges of the second finger. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Increased bone density in 2nd finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the phalanges of the 2nd finger" EXACT [] xref: UMLS:C4020937 is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger is_a: HP:0100899 ! Sclerosis of finger phalanx [Term] id: HP:0100919 name: Sclerosis of 3rd finger phalanx def: "An elevation in bone density in one or more phalanges of the third finger. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Increased bone density in middle finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the phalanges of the 3rd finger" EXACT [] xref: UMLS:C4020936 is_a: HP:0009316 ! Abnormal 3rd finger phalanx morphology is_a: HP:0100899 ! Sclerosis of finger phalanx [Term] id: HP:0100920 name: Sclerosis of 4th finger phalanx def: "An elevation in bone density in one or more phalanges of the fourth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Increased bone density in ring finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the phalanges of the 4th finger" EXACT [] xref: UMLS:C4020935 is_a: HP:0009172 ! Abnormal 4th finger phalanx morphology is_a: HP:0100899 ! Sclerosis of finger phalanx [Term] id: HP:0100921 name: Sclerosis of 5th finger phalanx def: "An elevation in bone density in one or more phalanges of the fifth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Increased bone density in little finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased bone density in pinkie finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased bone density in pinky finger bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the phalanges of the 5th finger" EXACT [] xref: UMLS:C4020934 is_a: HP:0004213 ! Abnormal 5th finger phalanx morphology is_a: HP:0100899 ! Sclerosis of finger phalanx [Term] id: HP:0100922 name: Sclerosis of thumb phalanx synonym: "Increased bone density in thumb bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the phalanges of the thumb" EXACT [] xref: UMLS:C4020933 is_a: HP:0009602 ! Abnormality of thumb phalanx is_a: HP:0100899 ! Sclerosis of finger phalanx [Term] id: HP:0100923 name: Clavicular sclerosis alt_id: HP:0006648 def: "An increase in bone density within the clavicle." [HPO:probinson] synonym: "Increased bone density in collarbone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Osteosclerosis of the clavicle" EXACT [] synonym: "Osteosclerosis of the clavicles" RELATED [HPO:skoehler] xref: UMLS:C3554669 is_a: HP:0000889 ! Abnormality of the clavicle is_a: HP:0011001 ! Increased bone mineral density created_by: doelkens creation_date: 2011-12-02T10:28:41Z [Term] id: HP:0100924 name: Sclerosis of toe phalanx def: "An elevation in bone density in one or more phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Increased bone density in the toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the phalanges of the toes" EXACT [] xref: UMLS:C4020932 is_a: HP:0010161 ! Abnormality of the phalanges of the toes is_a: HP:0100925 ! Sclerosis of foot bone created_by: doelkens creation_date: 2011-12-02T11:08:43Z [Term] id: HP:0100925 name: Sclerosis of foot bone def: "An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Increased bone density in foot bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of bones of the feet" EXACT [] xref: UMLS:C4020931 is_a: HP:0011001 ! Increased bone mineral density created_by: doelkens creation_date: 2011-12-02T11:12:32Z [Term] id: HP:0100926 name: Sclerosis of 2nd toe phalanx def: "An elevation in bone density in one or more phalanges of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Increased bone density in 2nd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the phalanges of the 2nd toe" EXACT [] xref: UMLS:C4020930 is_a: HP:0100924 ! Sclerosis of toe phalanx [Term] id: HP:0100927 name: Sclerosis of 3rd toe phalanx def: "An elevation in bone density in one or more phalanges of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Increased bone density in 3rd toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the phalanges of the 3rd toe" EXACT [] xref: UMLS:C4020929 is_a: HP:0100924 ! Sclerosis of toe phalanx [Term] id: HP:0100928 name: Sclerosis of 4th toe phalanx def: "An elevation in bone density in one or more phalanges of the fourth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Increased bone density in 4th toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the phalanges of the 4th toe" EXACT [] xref: UMLS:C4020928 is_a: HP:0100924 ! Sclerosis of toe phalanx [Term] id: HP:0100929 name: Sclerosis of 5th toe phalanx def: "An elevation in bone density in one or more phalanges of the fifth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Increased bone density in little toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased bone density in pinkie toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased bone density in pinky toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the phalanges of the 5th toe" EXACT [] xref: UMLS:C4020927 is_a: HP:0100924 ! Sclerosis of toe phalanx [Term] id: HP:0100930 name: Sclerosis of hallux phalanx def: "An elevation in bone density in one or more phalanges of the big toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Increased bone density in big toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the phalanges of the hallux" EXACT [] xref: UMLS:C4020926 is_a: HP:0100924 ! Sclerosis of toe phalanx [Term] id: HP:0100931 name: Sclerosis of the proximal phalanx of the 2nd toe def: "An elevation in bone density in the proximal phalanx of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Increased bone density in the innermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021927 is_a: HP:0100926 ! Sclerosis of 2nd toe phalanx is_a: HP:0100946 ! Sclerosis of proximal toe phalanx [Term] id: HP:0100932 name: Sclerosis of the proximal phalanx of the 3rd toe def: "An elevation in bone density in the proximal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Increased bone density in the innermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021926 is_a: HP:0100927 ! Sclerosis of 3rd toe phalanx is_a: HP:0100946 ! Sclerosis of proximal toe phalanx [Term] id: HP:0100933 name: Sclerosis of the proximal phalanx of the 4th toe synonym: "Increased bone density in the innermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021925 is_a: HP:0100928 ! Sclerosis of 4th toe phalanx is_a: HP:0100946 ! Sclerosis of proximal toe phalanx [Term] id: HP:0100934 name: Sclerosis of the proximal phalanx of the 5th toe synonym: "Increased bone density in the innermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased bone density in the innermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased bone density in the innermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021924 is_a: HP:0100929 ! Sclerosis of 5th toe phalanx is_a: HP:0100946 ! Sclerosis of proximal toe phalanx [Term] id: HP:0100935 name: Sclerosis of the middle phalanx of the 2nd toe synonym: "Increased bone density in the middle bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021923 is_a: HP:0100926 ! Sclerosis of 2nd toe phalanx is_a: HP:0100947 ! Sclerosis of middle toe phalanx [Term] id: HP:0100936 name: Sclerosis of the middle phalanx of the 3rd toe def: "An elevation in bone density in the middle phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Increased bone density in the middle bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021922 is_a: HP:0100927 ! Sclerosis of 3rd toe phalanx is_a: HP:0100947 ! Sclerosis of middle toe phalanx [Term] id: HP:0100937 name: Sclerosis of the middle phalanx of the 4th toe synonym: "Increased bone density in the middle bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021921 is_a: HP:0100928 ! Sclerosis of 4th toe phalanx is_a: HP:0100947 ! Sclerosis of middle toe phalanx [Term] id: HP:0100938 name: Sclerosis of the middle phalanx of the 5th toe synonym: "Increased bone density in the middle bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased bone density in the middle bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased bone density in the middle bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021920 is_a: HP:0100929 ! Sclerosis of 5th toe phalanx is_a: HP:0100947 ! Sclerosis of middle toe phalanx [Term] id: HP:0100939 name: Sclerosis of the distal phalanx of the 2nd toe synonym: "Increased bone density in the outermost bone of the 2nd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021919 is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe is_a: HP:0100926 ! Sclerosis of 2nd toe phalanx is_a: HP:0100948 ! Sclerosis of distal toe phalanx [Term] id: HP:0100940 name: Sclerosis of the distal phalanx of the 3rd toe def: "An elevation in bone density in the distal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Increased bone density in the outermost bone of the 3rd toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021918 is_a: HP:0100927 ! Sclerosis of 3rd toe phalanx is_a: HP:0100948 ! Sclerosis of distal toe phalanx [Term] id: HP:0100941 name: Sclerosis of the distal phalanx of the 4th toe synonym: "Increased bone density in the outermost bone of the 4th toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021917 is_a: HP:0100928 ! Sclerosis of 4th toe phalanx is_a: HP:0100948 ! Sclerosis of distal toe phalanx [Term] id: HP:0100942 name: Sclerosis of the distal phalanx of the 5th toe synonym: "Increased bone density in the outermost bone of the little toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased bone density in the outermost bone of the pinkie toe" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Increased bone density in the outermost bone of the pinky toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021916 is_a: HP:0100929 ! Sclerosis of 5th toe phalanx is_a: HP:0100948 ! Sclerosis of distal toe phalanx [Term] id: HP:0100943 name: Sclerosis of the proximal phalanx of the hallux synonym: "Increased bone density in the innermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021915 is_a: HP:0100930 ! Sclerosis of hallux phalanx is_a: HP:0100947 ! Sclerosis of middle toe phalanx [Term] id: HP:0100944 name: Sclerosis of the distal phalanx of the hallux synonym: "Increased bone density in the outermost bone of the big toe" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021914 is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0100930 ! Sclerosis of hallux phalanx is_a: HP:0100948 ! Sclerosis of distal toe phalanx [Term] id: HP:0100945 name: Sclerosis of the 1st metatarsal synonym: "Increased bone density in the 1st long bone of foot" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021913 is_a: HP:0100930 ! Sclerosis of hallux phalanx [Term] id: HP:0100946 name: Sclerosis of proximal toe phalanx def: "An elevation in bone density in one or more proximal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Increased bone density in innermost toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the proximal phalanges of the toes" EXACT [] xref: UMLS:C4020925 is_a: HP:0010184 ! Abnormality of toe proximal phalanx is_a: HP:0100924 ! Sclerosis of toe phalanx [Term] id: HP:0100947 name: Sclerosis of middle toe phalanx def: "An elevation in bone density in one or more middle phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Increased bone density in middle toe bone" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the middle phalanges of the toes" EXACT [] xref: UMLS:C4020924 is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes is_a: HP:0100924 ! Sclerosis of toe phalanx [Term] id: HP:0100948 name: Sclerosis of distal toe phalanx def: "An elevation in bone density in one or more distal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Increased bone density in the outermost bone of the toes" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Sclerosis of the distal phalanges of the toes" EXACT [] xref: UMLS:C4020923 is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes is_a: HP:0100924 ! Sclerosis of toe phalanx [Term] id: HP:0100950 name: Decreased activity of 3-hydroxyacyl-CoA dehydrogenase comment: Previously, 3-alpha-hydroxyacyl-CoA dehydrogenase was referred to as short-chain 3-alpha-hydroxyacyl-CoA dehydrogenase as well as medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase. synonym: "Long chain 3 hydroxyacyl coA dehydrogenase deficiency" RELATED [] synonym: "Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency" RELATED [] synonym: "Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency" RELATED [] xref: MSH:C566945 xref: SNOMEDCT_US:237999008 xref: UMLS:C1969443 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity created_by: doelkens creation_date: 2011-12-02T04:33:23Z [Term] id: HP:0100951 name: Enlarged fossa interpeduncularis alt_id: HP:0002420 synonym: "Enlarged basal cistern" EXACT [] synonym: "Enlarged interpeduncular cistern" EXACT [] xref: UMLS:C4020922 is_a: HP:0002119 ! Ventriculomegaly created_by: doelkens creation_date: 2011-12-02T04:45:02Z [Term] id: HP:0100952 name: Enlarged sylvian cistern def: "An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure)." [HPO:probinson] synonym: "Enlarged lateral fissure" EXACT [] synonym: "Enlarged lateral sulcus" EXACT [] synonym: "Enlarged sylvian fissure" EXACT [] xref: UMLS:C4020921 is_a: HP:0002119 ! Ventriculomegaly created_by: doelkens creation_date: 2011-12-02T04:47:51Z [Term] id: HP:0100953 name: Enlarged interhemispheric fissure synonym: "Enlarged great longitudinal fissure" EXACT [] synonym: "Enlarged longitudinal cerebral fissure" EXACT [] synonym: "Enlarged longitudinal fissure" EXACT [] xref: UMLS:C4020920 is_a: HP:0012703 ! Abnormal subarachnoid space morphology created_by: doelkens creation_date: 2011-12-02T04:49:49Z [Term] id: HP:0100954 name: Open operculum def: "Underdevelopment of the operculum." [HPO:sdoelken] xref: UMLS:C2675973 is_a: HP:0002538 ! Abnormality of the cerebral cortex is_a: HP:0006872 ! Cerebral hypoplasia created_by: doelkens creation_date: 2011-12-02T04:55:20Z [Term] id: HP:0100955 name: Giant cell granuloma of mandible xref: UMLS:C4021912 is_a: HP:0000277 ! Abnormality of the mandible created_by: doelkens creation_date: 2011-12-02T04:57:10Z [Term] id: HP:0100957 name: Abnormal renal medulla morphology alt_id: HP:0005582 def: "Any structural abnormality of the medulla of the kidney." [HPO:probinson, PMID:22343825] comment: The renal pyramids of the adult kidney resemble a cone with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. The adult renal medulla is made up of 10-18 pyramids. A pyramid consists of the medullary collecting ducts, loops of Henle, vasa recta (straight capillaries) and the interstitium. The main function of the medulla is to regulate concentration of the urine. The urine flows from the collecting ducts into the renal calyces and pelvis. synonym: "Abnormality of the renal medulla" EXACT [] xref: UMLS:C4021911 is_a: HP:0012210 ! Abnormal renal morphology created_by: doelkens creation_date: 2011-12-12T10:02:15Z [Term] id: HP:0100958 name: Narrow foramen obturatorium def: "Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis." [HPO:probinson] xref: UMLS:C4021910 is_a: HP:0003172 ! Abnormality of the pubic bone is_a: HP:0003174 ! Abnormality of the ischium created_by: doelkens creation_date: 2012-01-18T05:17:14Z [Term] id: HP:0100959 name: Dense metaphyseal bands def: "Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. They appear on radiographs as bone that is more radiopaque that the adjacent diaphyseal cortex." [HPO:sdoelken, PMID:10352605] synonym: "Dense metaphyseal lines" EXACT [] synonym: "Transverse metaphyseal bands" EXACT [] xref: UMLS:C4020919 is_a: HP:0000944 ! Abnormality of the metaphysis created_by: doelkens creation_date: 2012-01-18T05:25:57Z [Term] id: HP:0100960 name: Asymmetric ventricles xref: UMLS:C4021909 is_a: HP:0002118 ! Abnormality of the cerebral ventricles created_by: doelkens creation_date: 2012-01-18T05:47:26Z [Term] id: HP:0100961 name: Enlarged hippocampus def: "Increase in size of the hippocampus." [HPO:probinson] comment: The hippocampus is part of the limbic system and plays a role in long- and short-term memory. xref: UMLS:C4021908 is_a: HP:0025100 ! Abnormal morphology of the hippocampus created_by: doelkens creation_date: 2012-01-18T06:05:24Z [Term] id: HP:0100962 name: Shyness synonym: "Shyness" EXACT layperson [] xref: MSH:D012792 xref: UMLS:C0037020 is_a: HP:0012433 ! Abnormal social behavior created_by: doelkens creation_date: 2012-01-18T06:06:28Z [Term] id: HP:0100963 name: Hyperesthesia synonym: "Hyperaesthesia" EXACT [] xref: MSH:D006941 xref: SNOMEDCT_US:14151009 xref: UMLS:C0020453 is_a: HP:0000763 ! Sensory neuropathy created_by: doelkens creation_date: 2012-01-18T06:11:19Z [Term] id: HP:0200000 name: Dysharmonic bone age def: "Different levels of maturation of different bones." [HPO:probinson] comment: Bone age is usually determined by using a radiograph of the left hand to compare with images in the Greulich-Pyle atlas and approximating the closest skeletal age. \nIf the skeletal ages of individuals bones are different, i.e., different bones have (clearly) different levels of maturation, then it is referred to as dysharmonic skeletal maturation. synonym: "Dysharmonic skeletal maturation" EXACT [] xref: UMLS:C4020918 is_a: HP:0000927 ! Abnormality of skeletal maturation created_by: sebastiankohler creation_date: 2010-05-31T01:16:51Z [Term] id: HP:0200001 name: Dysharmonic accelerated bone age def: "A type of dysharmonic skeletal maturation in which there is an acceleration in skeletal maturation whose degree differs markedly in different bones." [HPO:probinson] xref: UMLS:C4021907 is_a: HP:0005616 ! Accelerated skeletal maturation is_a: HP:0200000 ! Dysharmonic bone age created_by: sebastiankohler creation_date: 2010-05-31T01:20:58Z [Term] id: HP:0200003 name: Splayed epiphyses alt_id: HP:0004978 def: "Flaring (widening) of the epiphysis." [HPO:probinson] synonym: "Splayed end part of bone" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021906 is_a: HP:0005930 ! Abnormality of epiphysis morphology created_by: sebastiankohler creation_date: 2010-05-31T02:19:45Z [Term] id: HP:0200005 name: Abnormal shape of the palpebral fissure def: "The presence of an abnormal shape of the palpebral fissure." [HPO:probinson] subset: hposlim_core synonym: "Abnormal morphology of the palpebral fissure" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormal shape of the opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021905 is_a: HP:0008050 ! Abnormality of the palpebral fissures created_by: sebastiankohler creation_date: 2010-06-09T07:56:37Z [Term] id: HP:0200006 name: Slanting of the palpebral fissure synonym: "Slanting of the opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C2748932 is_a: HP:0008050 ! Abnormality of the palpebral fissures created_by: sebastiankohler creation_date: 2010-06-09T07:57:10Z [Term] id: HP:0200007 name: Abnormal size of the palpebral fissures def: "An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures." [HPO:sdoelken] synonym: "Abnormal size of the eyes" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormal size of the opening between the eyelids" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021904 xref: UMLS:C4280286 is_a: HP:0008050 ! Abnormality of the palpebral fissures created_by: sebastiankohler creation_date: 2010-06-09T08:18:52Z [Term] id: HP:0200008 name: Intestinal polyposis def: "The presence of multiple polyps in the intestine." [HPO:probinson] synonym: "Gastrointestinal polyps" RELATED [HPO:skoehler] synonym: "Growths in inner lining of intestine" BROAD layperson [https://orcid.org/0000-0002-6548-5200] synonym: "Multiple intestinal polyps" EXACT [] xref: MSH:D044483 xref: UMLS:C0744333 xref: UMLS:C1257915 is_a: HP:0005266 ! Intestinal polyp created_by: sebastiankohler creation_date: 2010-06-09T11:38:54Z [Term] id: HP:0200011 name: Abnormal length of corpus callosum xref: UMLS:C4021903 is_a: HP:0001273 ! Abnormal corpus callosum morphology created_by: sebastiankohler creation_date: 2010-06-09T11:52:00Z [Term] id: HP:0200012 name: Short corpus callosum xref: UMLS:C4021902 is_a: HP:0200011 ! Abnormal length of corpus callosum created_by: sebastiankohler creation_date: 2010-06-09T11:52:21Z [Term] id: HP:0200013 name: Neoplasm of fatty tissue def: "A tumor (abnormal growth of tissue) of adipose tissue." [HPO:sdoelken] synonym: "Tumor of fatty tissue" EXACT layperson [ORCID:0000-0001-6908-9849] xref: NCIT:C3262 xref: UMLS:C4021901 is_a: HP:0009124 ! Abnormal adipose tissue morphology is_a: HP:0011793 ! Neoplasm by anatomical site created_by: sebastiankohler creation_date: 2010-06-10T09:37:17Z [Term] id: HP:0200015 name: Symmetric great toe depigmentation xref: UMLS:C4021900 is_a: HP:0001000 ! Abnormality of skin pigmentation created_by: sebastiankohler creation_date: 2010-06-16T11:57:43Z [Term] id: HP:0200016 name: Acrokeratosis def: "Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet." [HPO:skoehler] synonym: "Acral keratosis" EXACT [] xref: SNOMEDCT_US:46629009 xref: UMLS:C0001202 is_a: HP:0011368 ! Epidermal thickening is_a: HP:0200036 ! Skin nodule created_by: sebastiankohler creation_date: 2010-06-16T12:18:42Z [Term] id: HP:0200017 name: Cerebral white matter agenesis def: "Congenital defect with failure of the development of the cerebral white matter." [HPO:probinson] synonym: "Agenesis of the cerebral white matter" EXACT [] synonym: "White matter agenesis" EXACT [] xref: UMLS:C1859969 is_a: HP:0012429 ! Aplasia/Hypoplasia of the cerebral white matter created_by: sebastiankohler creation_date: 2010-06-16T12:37:37Z [Term] id: HP:0200018 name: Protanomaly alt_id: HP:0200019 def: "A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green." [HPO:probinson] comment: Note that protanomaly and deuteranomaly are both associated with difficulties distinguishing red and green. synonym: "Colorblindness, partial, protan series" EXACT [] synonym: "Red-weak" EXACT layperson [ORCID:0000-0001-6908-9849] xref: MSH:D003117 xref: SNOMEDCT_US:51445007 xref: UMLS:C0155015 xref: UMLS:C3887980 is_a: HP:0000642 ! Red-green dyschromatopsia is_a: HP:0011519 ! Anomalous trichromacy created_by: sebastiankohler creation_date: 2010-06-16T12:55:24Z [Term] id: HP:0200020 name: Corneal erosion def: "An erosion or abrasion of the cornea's outermost layer of epithelial cells." [HPO:sdoelken] subset: hposlim_core synonym: "Damage to outer layer of the cornea of the eye" EXACT layperson [https://orcid.org/0000-0002-6548-5200] xref: SNOMEDCT_US:50792001 xref: UMLS:C0392163 is_a: HP:0011495 ! Abnormal corneal epithelium morphology created_by: sebastiankohler creation_date: 2010-06-16T01:50:48Z [Term] id: HP:0200021 name: Down-sloping shoulders alt_id: HP:0001556 alt_id: HP:0006663 def: "Low set, steeply sloping shoulders." [HPO:probinson] subset: hposlim_core synonym: "Down-sloping shoulders" EXACT layperson [] synonym: "Rounded shoulders" EXACT layperson [] synonym: "Rounded, sloping shoulders" EXACT layperson [] synonym: "Sloping shoulders" EXACT layperson [] xref: UMLS:C1856872 is_a: HP:0003043 ! Abnormality of the shoulder created_by: sebastiankohler creation_date: 2010-06-16T02:15:20Z [Term] id: HP:0200022 name: Choroid plexus papilloma def: "Choroid plexus papilloma is a histologically benign neoplasm located in the ventricular system of the choroid plexus." [HPO:skoehler] xref: MSH:D020288 xref: NCIT:C3698 xref: SNOMEDCT_US:18021007 xref: UMLS:C0205770 is_a: HP:0007376 ! Abnormality of the choroid plexus is_a: HP:0012740 ! Papilloma is_a: HP:0100835 ! Benign neoplasm of the central nervous system created_by: sebastiankohler creation_date: 2010-06-16T04:01:24Z [Term] id: HP:0200023 name: Priapism def: "A painful and harmful medical condition in which the erect penis doesn't return to its flaccid state, despite the absence of both physical and psychological stimulation, within four hours." [HPO:skoehler] synonym: "hulseyism" EXACT [] xref: MSH:D011317 xref: SNOMEDCT_US:6273006 xref: UMLS:C0033117 is_a: HP:0100639 ! Erectile abnormalities created_by: sebastiankohler creation_date: 2010-06-16T05:00:44Z [Term] id: HP:0200024 name: Premature chromatid separation def: "The presence of premature sister chromatid segregation." [HPO:probinson] xref: UMLS:C4021899 is_a: HP:0002916 ! Abnormality of chromosome segregation created_by: sebastiankohler creation_date: 2010-06-16T05:13:30Z [Term] id: HP:0200025 name: Mandibular pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible." [] synonym: "Lower jaw pain" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:274667000 xref: UMLS:C0236000 is_a: HP:0000277 ! Abnormality of the mandible is_a: HP:0012531 ! Pain created_by: sebastiankohler creation_date: 2010-06-16T07:33:14Z [Term] id: HP:0200026 name: Ocular pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye." [] synonym: "Eye pain" EXACT layperson [ORCID:0000-0001-5889-4463] xref: MSH:D058447 xref: SNOMEDCT_US:41652007 xref: UMLS:C0151827 is_a: HP:0012373 ! Abnormal eye physiology is_a: HP:0012531 ! Pain created_by: sebastiankohler creation_date: 2010-06-16T07:39:04Z [Term] id: HP:0200028 name: Pretibial myxedema def: "A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet." [HPO:skoehler] synonym: "Graves dermopathy" EXACT [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:237825005 xref: SNOMEDCT_US:78146007 xref: UMLS:C0033103 xref: UMLS:C0342554 is_a: HP:0011356 ! Regional abnormality of skin created_by: sebastiankohler creation_date: 2010-06-17T02:32:36Z [Term] id: HP:0200029 name: Vasculitis in the skin synonym: "Cutaneous vasculitis" EXACT [HPO:skoehler] xref: SNOMEDCT_US:53312001 xref: UMLS:C0262988 is_a: HP:0002633 ! Vasculitis is_a: HP:0011276 ! Vascular skin abnormality created_by: sebastiankohler creation_date: 2010-06-17T02:55:19Z [Term] id: HP:0200030 name: Punctate vasculitis skin lesions xref: UMLS:C3277693 is_a: HP:0200029 ! Vasculitis in the skin created_by: sebastiankohler creation_date: 2010-06-17T02:55:38Z [Term] id: HP:0200032 name: Kayser-Fleischer ring def: "Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea." [HPO:SKOEHLER] synonym: "Fleischer's ring" EXACT [HPO:SKOEHLER] synonym: "Fleischer-Kayser ring" EXACT [HPO:SKOEHLER] synonym: "Fleischer-Struempell ring" EXACT [HPO:SKOEHLER] xref: SNOMEDCT_US:77103006 xref: UMLS:C0152457 is_a: HP:0007957 ! Corneal opacity created_by: sebastiankohler creation_date: 2010-06-24T12:30:24Z [Term] id: HP:0200034 name: Papule def: "A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point." [HPO:skoehler] subset: hposlim_core synonym: "Papules" EXACT [HPO:skoehler] synonym: "Skin papules" RELATED [] xref: MEDDRA:10033733 "Papule" xref: SNOMEDCT_US:25694009 xref: SNOMEDCT_US:443871003 xref: UMLS:C0332563 is_a: HP:0011355 ! Localized skin lesion created_by: sebastiankohler creation_date: 2010-06-18T01:38:03Z [Term] id: HP:0200035 name: Skin plaque def: "A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter." [HPO:skoehler] xref: SNOMEDCT_US:128177006 xref: SNOMEDCT_US:276322001 xref: UMLS:C0241148 is_a: HP:0011355 ! Localized skin lesion created_by: sebastiankohler creation_date: 2010-06-18T01:39:28Z [Term] id: HP:0200036 name: Skin nodule def: "Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat." [HPO:skoehler] comment: A nodule is a palpable, solid, round lesion in the deep skin or subcuteaneous tissues that is larger and deeper than a papule. Nodules are solid circumscribed masses. A common definition is that a skin nodule has a diameter of more than 5 mm in infants and more than 10 mm in older children. synonym: "Growth of abnormal tissue on or under the skin" EXACT layperson [https://orcid.org/0000-0001-5208-3432] xref: SNOMEDCT_US:95319004 xref: UMLS:C0037287 is_a: HP:0011355 ! Localized skin lesion created_by: sebastiankohler creation_date: 2010-06-18T01:48:50Z [Term] id: HP:0200037 name: Skin vesicle def: "A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point." [HPO:SKOEHLER] synonym: "Blister" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C3814530 is_a: HP:0011355 ! Localized skin lesion created_by: sebastiankohler creation_date: 2010-06-18T01:58:15Z [Term] id: HP:0200039 name: Pustule def: "A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells." [HPO:skoehler] subset: hposlim_core synonym: "Pimple" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Pustula" EXACT [] synonym: "Pustules" EXACT [HPO:skoehler] synonym: "Skin pustule" EXACT [] synonym: "Skin pustules" EXACT [HPO:skoehler] xref: MEDDRA:10037578 "Pustule" xref: SNOMEDCT_US:103605005 xref: SNOMEDCT_US:271760008 xref: SNOMEDCT_US:285305004 xref: SNOMEDCT_US:47002008 xref: UMLS:C0241157 xref: UMLS:C0542346 is_a: HP:0011123 ! Inflammatory abnormality of the skin created_by: sebastiankohler creation_date: 2010-06-18T02:03:24Z [Term] id: HP:0200040 name: Epidermoid cyst def: "Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts." [HPO:skoehler] comment: A cyst is a cavity containing liquid, semisolid, or solid material. An epidermoid cyst is a benign cyst that develops out of ectodermal tissue and consists of a thin layer of squamous epithelium. An epidermal cyst may or may not be painful or release pus, and are usually noticed as a bump on the skin. Epidermal cysts and trichilemmal cysts are clinically indistinguishable. The wall of the epidermal cyst conserves the epidermal layers, but the wall of the trichilemmal cysts, which arise from the external root sheath, shows palisading of unlayered epithelial cells. Homogeneous horny material that is further degraded to fat and cholesterol forms within both types of cysts. synonym: "Epidermal cyst" EXACT [] synonym: "Epidermal inclusion cyst" EXACT [] synonym: "Epidermoid cysts" RELATED HP:0045078 [HPO:skoehler] synonym: "Infundibular cyst" EXACT [] synonym: "Keratin cyst" EXACT [] synonym: "Sebaceous cyst" RELATED [] synonym: "Skin cyst" EXACT layperson [] xref: MSH:D004814 xref: SNOMEDCT_US:399999000 xref: SNOMEDCT_US:417992006 xref: SNOMEDCT_US:418323001 xref: SNOMEDCT_US:418630001 xref: SNOMEDCT_US:419603000 xref: SNOMEDCT_US:419670003 xref: SNOMEDCT_US:419893006 xref: UMLS:C0014511 is_a: HP:0025245 ! Cutaneous cyst created_by: sebastiankohler creation_date: 2010-06-18T02:08:02Z [Term] id: HP:0200041 name: Skin erosion def: "A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed." [HPO:skoehler] xref: MEDDRA:10040840 "Skin erosion" xref: SNOMEDCT_US:93448009 xref: UMLS:C3887524 is_a: HP:0011355 ! Localized skin lesion created_by: sebastiankohler creation_date: 2010-06-18T02:15:51Z [Term] id: HP:0200042 name: Skin ulcer def: "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:skoehler] subset: hposlim_core synonym: "Open skin sore" EXACT layperson [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0002-6548-5200] xref: MEDDRA:10040943 "Skin ulcer" xref: MSH:D012883 xref: SNOMEDCT_US:46742003 xref: UMLS:C0037299 is_a: HP:0011355 ! Localized skin lesion created_by: sebastiankohler creation_date: 2010-06-18T02:17:00Z [Term] id: HP:0200043 name: Verrucae def: "Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas." [HPO:skoehler] comment: Cause is a virus called HPV (human papilloma virus), which infects the skin and causes the abnormal growth. There are many different varieties of the virus, which usually depends on the location of the lesion. synonym: "Warts" EXACT layperson [HPO:SKOEHLER] xref: MSH:D014860 xref: SNOMEDCT_US:30285000 xref: SNOMEDCT_US:57019003 xref: UMLS:C3665596 is_a: HP:0012740 ! Papilloma created_by: sebastiankohler creation_date: 2010-06-18T11:35:25Z [Term] id: HP:0200044 name: Porokeratosis def: "A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella." [HPO:skoehler] xref: MSH:D017499 xref: SNOMEDCT_US:80432009 xref: UMLS:C0949506 is_a: HP:0011368 ! Epidermal thickening created_by: sebastiankohler creation_date: 2010-06-18T11:57:47Z [Term] id: HP:0200046 name: Cat cry def: "The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten." [HPO:probinson] comment: This unusual cry is characteristic of the cri du chat syndrome which results from a deletion on the p arm of chromosome 5. It is thought to be due to laryngeal hypoplasia, floppy epiglottis, small larynx, and asymmetric vocal cords, but is probably also related to dysfunction of the central nervous system. This sign occurs in infants and disappears with age. synonym: "Cat cry" EXACT layperson [] synonym: "cat-like cry" EXACT layperson [HPO:skoehler] synonym: "cri de chat-associated cry" RELATED [HPO:skoehler] xref: SNOMEDCT_US:42712003 xref: UMLS:C0234861 is_a: HP:0025429 ! Abnormal cry created_by: sebastiankohler creation_date: 2011-02-02T01:56:20Z [Term] id: HP:0200047 name: Chondritis of pinna def: "Inflammation of the cartilage of the external ear." [HPO:probinson] synonym: "Inflammation of cartilage of pinna" EXACT [] xref: UMLS:C0741305 is_a: HP:0000377 ! Abnormality of the pinna created_by: sebastiankohler creation_date: 2011-02-02T02:02:10Z [Term] id: HP:0200048 name: Cyanotic episode xref: SNOMEDCT_US:301795004 xref: UMLS:C0578475 is_a: HP:0000961 ! Cyanosis created_by: sebastiankohler creation_date: 2011-02-02T02:03:18Z [Term] id: HP:0200049 name: Upper limb hypertonia xref: UMLS:C4021898 is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs is_a: HP:0002509 ! Limb hypertonia created_by: koehlers [Term] id: HP:0200050 name: Bracket metacarpal epiphyses synonym: "Bracket shaped end part of long bone of hand" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C4021897 is_a: HP:0005913 ! Abnormality of metacarpal epiphyses created_by: koehlers [Term] id: HP:0200053 name: Hemihypotrophy of lower limb alt_id: HP:0005618 def: "Shortening of a leg affecting only one side." [HPO:curators] synonym: "Asymmetric leg shortening" EXACT [] synonym: "Asymmetric lower limb shortness" EXACT [] xref: UMLS:C1844734 is_a: HP:0100556 ! Hemiatrophy created_by: sebastiankohler creation_date: 2011-12-02T03:41:26Z [Term] id: HP:0200054 name: Foot monodactyly xref: UMLS:C4021896 is_a: HP:0001849 ! Foot oligodactyly created_by: doelkens creation_date: 2011-11-22T09:56:55Z [Term] id: HP:0200055 name: Small hand def: "Disproportionately small hand." [HPO:probinson] synonym: "Disproportionately small hands" EXACT layperson [] synonym: "Small hand" EXACT layperson [] synonym: "Small hands" RELATED layperson [HPO:skoehler] xref: SNOMEDCT_US:299032009 xref: UMLS:C0575802 is_a: HP:0005927 ! Aplasia/hypoplasia involving bones of the hand created_by: sebastiankohler [Term] id: HP:0200056 name: Macular scar alt_id: HP:0007949 def: "Scar tissue in the macula." [HPO:probinson] synonym: "Macular scarring" EXACT [] xref: SNOMEDCT_US:18410006 xref: UMLS:C0423428 is_a: HP:0007401 ! Macular atrophy is_a: HP:0100699 ! Scarring created_by: sebastiankohler creation_date: 2012-11-18T11:09:09Z [Term] id: HP:0200057 name: Marcus Gunn pupil comment: Video description of how to test patients at: http://www.youtube.com/watch?v=HSYo7LhfV3A . synonym: "relative afferent pupil defect" EXACT [HPO:skoehler] synonym: "relative afferent pupillary defect" EXACT [HPO:skoehler] xref: SNOMEDCT_US:232122003 xref: SNOMEDCT_US:247015002 xref: UMLS:C0549122 is_a: HP:0000587 ! Abnormality of the optic nerve created_by: sebastiankohler creation_date: 2012-11-18T12:14:22Z [Term] id: HP:0200058 name: Angiosarcoma xref: MSH:D006394 xref: SNOMEDCT_US:33176006 xref: SNOMEDCT_US:39000009 xref: SNOMEDCT_US:403977003 xref: UMLS:C0018923 is_a: HP:0030448 ! Soft tissue sarcoma created_by: sebastiankohler [Term] id: HP:0200059 name: Metastatic angiosarcoma xref: UMLS:C0854892 is_a: HP:0200058 ! Angiosarcoma created_by: sebastiankohler [Term] id: HP:0200063 name: Colorectal polyposis def: "Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen." [] synonym: "Colorectal polyps" EXACT [] xref: SNOMEDCT_US:399505005 xref: UMLS:C0949059 is_a: HP:0030255 ! Large intestinal polyposis is_a: HP:0100743 ! Neoplasm of the rectum created_by: sebastiankohler creation_date: 2013-05-31T01:19:31Z [Term] id: HP:0200064 name: Asymmetry of iris pigmentation def: "Asymmetry between the two irides or asymmetry between different parts of one iris." [ORCID:0000-0003-0986-4123] xref: MSH:C538115 xref: SNOMEDCT_US:247033008 xref: UMLS:C0423318 is_a: HP:0008034 ! Abnormal iris pigmentation created_by: sebastiankohler creation_date: 2013-05-31T01:27:41Z [Term] id: HP:0200065 name: Chorioretinal degeneration alt_id: HP:0007912 alt_id: HP:0007945 xref: SNOMEDCT_US:247177004 xref: UMLS:C0521683 is_a: HP:0000532 ! Abnormal chorioretinal morphology created_by: sebastiankohler creation_date: 2013-05-31T01:29:16Z [Term] id: HP:0200066 name: Ribbonlike corneal degeneration xref: UMLS:C4021894 is_a: HP:0007705 ! Corneal degeneration created_by: sebastiankohler creation_date: 2013-05-31T01:31:04Z [Term] id: HP:0200067 name: Recurrent spontaneous abortion def: "Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference." [HPO:probinson] synonym: "Spontaneous abortion, recurrent" RELATED [HPO:skoehler] xref: UMLS:C3279439 is_a: HP:0005268 ! Spontaneous abortion created_by: sebastiankohler creation_date: 2013-05-31T01:33:01Z [Term] id: HP:0200068 name: Nonprogressive visual loss synonym: "Decreased visual acuity, nonprogressive" RELATED [HPO:skoehler] xref: UMLS:C3553696 xref: UMLS:C4021893 is_a: HP:0000572 ! Visual loss created_by: sebastiankohler creation_date: 2013-05-31T01:36:51Z [Term] id: HP:0200070 name: Peripheral retinal atrophy synonym: "Wasting of the outer part of the retina" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C3553016 is_a: HP:0001105 ! Retinal atrophy created_by: sebastiankohler creation_date: 2013-05-31T01:48:09Z [Term] id: HP:0200071 name: Peripheral vitreoretinal degeneration def: "A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina." [] xref: UMLS:C3280349 is_a: HP:0007773 ! Vitreoretinopathy created_by: sebastiankohler creation_date: 2013-05-31T01:49:02Z [Term] id: HP:0200072 name: Episodic quadriplegia def: "Intermittent episodes of paralysis of all four limbs." [HPO:probinson] synonym: "Quadriplegia, episodic" RELATED [HPO:skoehler] xref: UMLS:C1863062 is_a: HP:0002445 ! Tetraplegia created_by: sebastiankohler creation_date: 2013-05-31T04:27:32Z [Term] id: HP:0200073 name: Respiratory insufficiency due to defective ciliary clearance xref: UMLS:C3552099 is_a: HP:0002093 ! Respiratory insufficiency is_a: HP:0012261 ! Abnormal respiratory motile cilium physiology created_by: sebastiankohler creation_date: 2013-05-31T04:31:32Z [Term] id: HP:0200083 name: Severe limb shortening synonym: "Severe limb shortening" EXACT layperson [] xref: UMLS:C1835446 is_a: HP:0002983 ! Micromelia created_by: sebastiankohler creation_date: 2013-06-03T04:14:07Z [Term] id: HP:0200084 name: Giant cell hepatitis def: "Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver." [PMID:27746622] synonym: "Giant cell hepatitis on biopsy" RELATED [HPO:skoehler] synonym: "Giant cell hepatitis on liver biopsy" RELATED [HPO:skoehler] synonym: "Giant cell hepatitis shown on biopsy" RELATED [HPO:skoehler] xref: SNOMEDCT_US:69800000 xref: UMLS:C0027613 xref: UMLS:C2673820 xref: UMLS:C2675624 xref: UMLS:C4020697 is_a: HP:0012115 ! Hepatitis created_by: sebastiankohler creation_date: 2013-06-04T02:32:26Z [Term] id: HP:0200085 name: Limb tremor synonym: "Involuntary shaking of limb" EXACT layperson [ORCID:0000-0001-6908-9849] synonym: "Limb tremor" EXACT layperson [] synonym: "Tremor of limbs" RELATED layperson [HPO:skoehler] xref: MSH:D014202 xref: UMLS:C0235081 is_a: HP:0030188 ! Tremor by anatomical site created_by: sebastiankohler creation_date: 2013-06-04T02:39:15Z [Term] id: HP:0200094 name: Frontal open bite xref: UMLS:C1857012 is_a: HP:0010807 ! Open bite created_by: sebastiankohler creation_date: 2013-06-04T03:04:44Z [Term] id: HP:0200095 name: Anterior open bite xref: SNOMEDCT_US:67289000 xref: UMLS:C0266060 is_a: HP:0010807 ! Open bite created_by: sebastiankohler creation_date: 2013-06-04T03:04:56Z [Term] id: HP:0200096 name: Triangular-shaped open mouth def: "A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle." [HPO:probinson] synonym: "Triangular-shaped open mouth" EXACT layperson [] xref: UMLS:C1859292 is_a: HP:0000194 ! Open mouth is_a: HP:0000207 ! Triangular mouth created_by: sebastiankohler creation_date: 2013-06-04T03:06:03Z [Term] id: HP:0200097 name: Oral mucosal blisters def: "Blisters arising in the mouth." [HPO:probinson] synonym: "Blebs of oral mucosa" EXACT [ORCID:0000-0001-5889-4463] synonym: "Blisters of mouth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Bullae of oral mucosa" EXACT [ORCID:0000-0001-5889-4463] synonym: "Oral blistering" EXACT [] synonym: "Oral mucosa blisters" RELATED [HPO:skoehler] synonym: "Oral mucosal blisters" EXACT layperson [] xref: UMLS:C0853945 is_a: HP:0008066 ! Abnormal blistering of the skin is_a: HP:0011830 ! Abnormal oral mucosa morphology created_by: sebastiankohler creation_date: 2013-06-05T09:59:58Z [Term] id: HP:0200098 name: Absent skin pigmentation def: "Lack of skin pigmentation (coloring)." [HPO:probinson] synonym: "Absent skin pigmentation" EXACT layperson [] synonym: "Lack of skin coloration" EXACT layperson [ORCID:0000-0001-5208-3432] xref: UMLS:C2673954 is_a: HP:0001010 ! Hypopigmentation of the skin created_by: sebastiankohler creation_date: 2013-06-05T10:22:18Z [Term] id: HP:0200099 name: obsolete Peripheral retinal pigmentation abnormalities is_obsolete: true consider: HP:0007703 created_by: sebastiankohler creation_date: 2013-06-05T10:24:46Z [Term] id: HP:0200101 name: Decreased/absent ankle reflexes synonym: "Decreased or absent ankle reflexes" RELATED layperson [HPO:skoehler] synonym: "Decreased/absent ankle reflexes" EXACT layperson [] xref: UMLS:C1850816 is_a: HP:0002522 ! Areflexia of lower limbs created_by: sebastiankohler creation_date: 2013-06-05T11:58:29Z [Term] id: HP:0200102 name: Sparse or absent eyelashes synonym: "Partial to total absence of eyelashes" RELATED layperson [HPO:skoehler] synonym: "Sparse or absent eyelashes" EXACT layperson [] synonym: "Sparse to absent eyelashes" RELATED layperson [HPO:skoehler] xref: UMLS:C1835157 xref: UMLS:C1862855 xref: UMLS:C3551431 is_a: HP:0000499 ! Abnormal eyelash morphology created_by: sebastiankohler creation_date: 2013-06-05T12:03:01Z [Term] id: HP:0200104 name: Absent fifth fingernail alt_id: HP:0011366 def: "Absence of nail of little finger." [HPO:probinson] synonym: "Absent fifth fingernail" EXACT layperson [] synonym: "Absent nail of fifth finger" EXACT layperson [] xref: UMLS:C4020917 is_a: HP:0001817 ! Absent fingernail created_by: sebastiankohler creation_date: 2013-06-05T12:11:16Z [Term] id: HP:0200105 name: Absent fifth toenail synonym: "Absent fifth toenail" EXACT layperson [] synonym: "Missing fifth toenail" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C4021892 is_a: HP:0001802 ! Absent toenail created_by: sebastiankohler creation_date: 2013-06-05T12:11:38Z [Term] id: HP:0200106 name: Absent/shortened dynein arms xref: UMLS:C4021891 is_a: HP:0012255 ! Dynein arm defect of respiratory motile cilia created_by: sebastiankohler creation_date: 2013-06-05T12:14:18Z [Term] id: HP:0200107 name: Shortened inner dynein arms xref: UMLS:C4021890 is_a: HP:0200106 ! Absent/shortened dynein arms created_by: sebastiankohler creation_date: 2013-06-05T12:14:49Z [Term] id: HP:0200108 name: Shortened outer dynein arms xref: UMLS:C4021889 is_a: HP:0200106 ! Absent/shortened dynein arms created_by: sebastiankohler creation_date: 2013-06-05T12:15:10Z [Term] id: HP:0200109 name: Absent/shortened outer dynein arms synonym: "Respiratory cilia have shortened or absent outer dynein arms" RELATED [HPO:skoehler] xref: UMLS:C2750161 is_a: HP:0012256 ! Absent outer dynein arms is_a: HP:0200108 ! Shortened outer dynein arms created_by: sebastiankohler creation_date: 2013-06-05T12:17:14Z [Term] id: HP:0200111 name: Absent stapes head xref: UMLS:C4021888 is_a: HP:0008628 ! Abnormality of the stapes created_by: sebastiankohler creation_date: 2013-06-05T12:21:37Z [Term] id: HP:0200113 name: Aphalangy of hands and feet synonym: "Aphalangy, hands and feet" RELATED [HPO:skoehler] xref: UMLS:C4021887 is_a: HP:0005886 ! Aphalangy of the hands is_a: HP:0009776 ! Adactyly is_a: HP:0010745 ! Aplasia of the phalanges of the toes created_by: sebastiankohler creation_date: 2013-06-05T12:27:09Z [Term] id: HP:0200114 name: Metabolic alkalosis xref: SNOMEDCT_US:1388004 xref: UMLS:C0220983 is_a: HP:0001948 ! Alkalosis created_by: sebastiankohler creation_date: 2013-06-05T12:33:28Z [Term] id: HP:0200116 name: Distal ileal atresia xref: UMLS:C3279409 is_a: HP:0011102 ! Ileal atresia created_by: sebastiankohler creation_date: 2013-06-06T04:14:39Z [Term] id: HP:0200117 name: Recurrent upper and lower respiratory tract infections def: "Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections." [] xref: UMLS:C1842777 is_a: HP:0002783 ! Recurrent lower respiratory tract infections is_a: HP:0002788 ! Recurrent upper respiratory tract infections created_by: sebastiankohler creation_date: 2013-06-07T01:34:02Z [Term] id: HP:0200118 name: Malabsorption of Vitamin B12 synonym: "Malabsorption of cyanocobalamin" RELATED [HPO:skoehler] synonym: "Vitamin B12 deficiency caused by intestinal malabsorption" RELATED [HPO:skoehler] xref: UMLS:C0750292 xref: UMLS:C1850013 is_a: HP:0004341 ! Abnormality of vitamin B12 metabolism created_by: sebastiankohler creation_date: 2013-06-11T11:04:49Z [Term] id: HP:0200119 name: Acute hepatitis def: "Short-term infection iwith one of the five hepatitis viruses that causes inflammation of the liver." [https://www.healthline.com/health/acute-hepatitis-c#acute-vs-chronic] synonym: "Acute liver inflammation" EXACT layperson [ORCID:0000-0001-6908-9849] xref: SNOMEDCT_US:37871000 xref: UMLS:C0267797 is_a: HP:0012115 ! Hepatitis created_by: sebastiankohler creation_date: 2013-06-11T11:15:57Z [Term] id: HP:0200120 name: Chronic active hepatitis def: "Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis." [PMID:7418593] synonym: "Hepatitis, chronic active" RELATED [HPO:skoehler] xref: MSH:D006521 xref: SNOMEDCT_US:197284004 xref: UMLS:C0520463 is_a: HP:0200123 ! Chronic hepatitis created_by: sebastiankohler creation_date: 2013-06-11T11:17:25Z [Term] id: HP:0200122 name: Atypical or prolonged hepatitis synonym: "Atypical or prolonged liver inflammation" EXACT layperson [ORCID:0000-0001-6908-9849] xref: UMLS:C1848456 is_a: HP:0012115 ! Hepatitis created_by: sebastiankohler creation_date: 2013-06-11T11:20:29Z [Term] id: HP:0200123 name: Chronic hepatitis def: "Hepatitis that lasts for more than six months." [https://patient.info/doctor/chronic-hepatitis] synonym: "Chronic liver inflammation" EXACT layperson [ORCID:0000-0001-5208-3432] xref: MSH:D006521 xref: SNOMEDCT_US:76783007 xref: UMLS:C0019189 is_a: HP:0012115 ! Hepatitis created_by: sebastiankohler creation_date: 2013-06-11T11:20:53Z [Term] id: HP:0200124 name: Chronic hepatitis due to cryptosporidium infection def: "Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue." [PMID:23440042] synonym: "Hepatitis, chronic, due to cryptosporidium infection" RELATED [HPO:skoehler] xref: UMLS:C3808820 is_a: HP:0200123 ! Chronic hepatitis created_by: sebastiankohler creation_date: 2013-06-11T11:21:21Z [Term] id: HP:0200125 name: Mitochondrial respiratory chain defects xref: UMLS:C2751582 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism created_by: sebastiankohler creation_date: 2013-06-11T11:22:52Z [Term] id: HP:0200126 name: obsolete Amyloid cardiomyopathy is_obsolete: true replaced_by: HP:0030843 [Term] id: HP:0200127 name: Atrial cardiomyopathy def: "Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations." [PMID:27402624] xref: UMLS:C4021885 is_a: HP:0001638 ! Cardiomyopathy created_by: sebastiankohler creation_date: 2013-06-11T11:27:27Z [Term] id: HP:0200128 name: Biventricular hypertrophy def: "Thickening of the heart walls in both ventricles." [PMID:28740584] xref: UMLS:C0281788 is_a: HP:0001714 ! Ventricular hypertrophy created_by: sebastiankohler creation_date: 2013-06-11T11:28:46Z [Term] id: HP:0200129 name: obsolete Calcific mitral stenosis is_obsolete: true consider: HP:0001718 [Term] id: HP:0200133 name: Lumbosacral meningocele xref: UMLS:C2675557 is_a: HP:0100712 ! Abnormality of the lumbar spine created_by: sebastiankohler creation_date: 2013-06-11T03:59:35Z [Term] id: HP:0200134 name: Epileptic encephalopathy xref: UMLS:C0543888 is_a: HP:0001298 ! Encephalopathy created_by: sebastiankohler creation_date: 2013-06-11T04:02:30Z [Term] id: HP:0200135 name: obsolete Macrocephaly due to hydrocephalus is_obsolete: true [Term] id: HP:0200136 name: Oral-pharyngeal dysphagia synonym: "Difficulty swallowing" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Oral pharyngeal dysphagia" EXACT [ORCID:0000-0001-5208-3432] synonym: "Oropharyngeal dysphagia" EXACT [ORCID:0000-0001-5889-4463] xref: MSH:D003680 xref: SNOMEDCT_US:71457002 xref: UMLS:C0267071 is_a: HP:0000600 ! Abnormality of the pharynx is_a: HP:0002015 ! Dysphagia created_by: sebastiankohler creation_date: 2013-06-12T11:05:35Z [Term] id: HP:0200138 name: Bilateral choanal atresia/stenosis xref: UMLS:C4021884 is_a: HP:0000452 ! Choanal stenosis is_a: HP:0004502 ! Bilateral choanal atresia created_by: sebastiankohler creation_date: 2013-06-12T11:08:52Z [Term] id: HP:0200141 name: Small, conical teeth synonym: "Conical microdontia" EXACT [ORCID:0000-0001-5889-4463] synonym: "Small, cone shaped teeth" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Small, peg shaped teeth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Small, pointed teeth" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C1851883 xref: UMLS:C4280284 xref: UMLS:C4280285 is_a: HP:0000691 ! Microdontia is_a: HP:0000698 ! Conical tooth created_by: sebastiankohler creation_date: 2013-06-13T11:59:54Z [Term] id: HP:0200143 name: Megaloblastic erythroid hyperplasia synonym: "Bone marrow biopsy shows megaloblastic erythroid hyperplasia" RELATED [HPO:skoehler] xref: UMLS:C1334688 xref: UMLS:C1850020 is_a: HP:0012132 ! Erythroid hyperplasia created_by: sebastiankohler creation_date: 2013-06-13T12:44:34Z [Term] id: HP:0200144 name: obsolete Anaphylactoid purpura is_obsolete: true consider: HP:0000979 [Term] id: HP:0200146 name: Mucoid extracellular matrix accumulation def: "An increase of medial mucoid extracellular matrix creating translamellar and/or intralamellar expansions including extracellular pools as noted on an H&E stain and/or a stain to highlight extracellular matrix material (Movat's pentachrome, Alcian blue, etc.)." [PMID:27031798] comment: MEMA replaces a variety of terms used in the past such as cystic medial necrosis, cystonecrosis, cystic degeneration, mucoid degeneration which, while generally understood by pathologists, are inaccurate. This histopathology can be subclassified and graded according to distribution, severity, and/or whether it crosses over multiple lamellar units as described. The grading should be reported as mild/moderate/severe and the distribution should be reported as focal, multifocal, or extensive. synonym: "Cystic medial necrosis of the aorta" EXACT [] synonym: "MEMA" EXACT HP:0045077 [] xref: MSH:C536230 xref: SNOMEDCT_US:234021009 xref: SNOMEDCT_US:42182000 xref: SNOMEDCT_US:45894003 xref: UMLS:C0392775 is_a: HP:0012180 ! Cystic medial necrosis is_a: HP:0032079 ! Medial degeneration created_by: sebastiankohler creation_date: 2013-06-13T12:55:22Z [Term] id: HP:0200147 name: Neuronal loss in basal ganglia def: "A reduction in the number of nerve cells in the basal ganglia." [HPO:probinson, pmid:13729575] comment: See Fig. 11 in pmid:13729575. xref: UMLS:C2750913 is_a: HP:0002134 ! Abnormality of the basal ganglia created_by: sebastiankohler creation_date: 2013-06-13T12:59:06Z [Term] id: HP:0200148 name: Abnormal liver function tests during pregnancy synonym: "Abnormal liver function tests during pregnancy" EXACT layperson [] synonym: "Abnormal liver function tests during pregnancy, resolves postpartum" RELATED [HPO:skoehler] xref: UMLS:C2750654 xref: UMLS:C4021883 is_a: HP:0002910 ! Elevated hepatic transaminase created_by: sebastiankohler creation_date: 2013-06-13T01:01:21Z [Term] id: HP:0200149 name: CSF lymphocytic pleiocytosis def: "An increased lymphocyte count in the cerebrospinal fluid." [KI:phemming] synonym: "CSF lymphocytosis" EXACT [] xref: SNOMEDCT_US:167719009 xref: UMLS:C0427877 is_a: HP:0012229 ! CSF pleocytosis created_by: sebastiankohler creation_date: 2013-06-13T01:03:23Z [Term] id: HP:0200150 name: Increased serum bile acid concentration during pregnancy synonym: "Increased serum bile acid concentration during pregnancy, resolves" RELATED [HPO:skoehler] xref: UMLS:C4020695 xref: UMLS:C4021882 is_a: HP:0012202 ! Increased serum bile acid concentration created_by: sebastiankohler creation_date: 2013-06-13T01:05:40Z [Term] id: HP:0200151 name: Cutaneous mastocytosis def: "Multifocal dense infiltrates of mast cells in cutaneous tissue." [HPO:probinson, PMID:21668033] xref: MSH:D034701 xref: SNOMEDCT_US:397012002 xref: SNOMEDCT_US:703827008 xref: UMLS:C1136033 is_a: HP:0008069 ! Neoplasm of the skin is_a: HP:0100495 ! Mastocytosis created_by: sebastiankohler creation_date: 2013-06-14T09:22:02Z [Term] id: HP:0200153 name: Agenesis of lateral incisor synonym: "Absence of lateral incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Failure of development of lateral incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing lateral incisor" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021881 xref: UMLS:C4227831 is_a: HP:0006485 ! Agenesis of incisor [Term] id: HP:0200154 name: Agenesis of mandibular lateral incisor synonym: "Absence of lower lateral incisor" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Absence of mandibular lateral incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Failure of development of mandibular lateral incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing lower lateral incisor" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Missing mandibular lateral incisor" RELATED [ORCID:0000-0001-5889-4463] xref: UMLS:C4021880 xref: UMLS:C4280283 is_a: HP:0200153 ! Agenesis of lateral incisor is_a: HP:0200161 ! Agenesis of mandibular incisor [Term] id: HP:0200158 name: Agenesis of permanent mandibular lateral incisor synonym: "Absence of adult mandibular lateral incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Absence of permanent mandibular lateral incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Failure of development of permanent mandibular lateral incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing adult lower lateral incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Missing permanent mandibular lateral incisor" RELATED [ORCID:0000-0001-5889-4463] xref: UMLS:C4021879 xref: UMLS:C4280282 is_a: HP:0200154 ! Agenesis of mandibular lateral incisor [Term] id: HP:0200159 name: Agenesis of primary mandibular lateral incisor synonym: "Absence of deciduous mandibular lateral incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Absence of lower front baby tooth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Absence of primary mandibular lateral incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Agenesis of deciduous mandibular lateral incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of deciduous mandibular lateral incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of primary mandibular lateral incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing deciduous mandibular lateral incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Missing primary mandibular lateral incisor" RELATED [ORCID:0000-0001-5889-4463] xref: UMLS:C4021878 xref: UMLS:C4280280 xref: UMLS:C4280281 is_a: HP:0200154 ! Agenesis of mandibular lateral incisor [Term] id: HP:0200160 name: Agenesis of maxillary incisor synonym: "Absence of maxillary incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Absence of upper front tooth" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Failure of development of maxillary incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of upper incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing upper front tooth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Missing upper incisor" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4021877 xref: UMLS:C4280278 xref: UMLS:C4280279 is_a: HP:0006485 ! Agenesis of incisor [Term] id: HP:0200161 name: Agenesis of mandibular incisor synonym: "Absence of lower front tooth" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Absence of lower incisor" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Absence of mandibular incisor" RELATED [ORCID:0000-0001-5889-4463] synonym: "Agenesis of lower incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Failure of development of mandibular incisor" EXACT [ORCID:0000-0001-5889-4463] synonym: "Missing lower front tooth" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Missing lower incisor" RELATED layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C3150012 xref: UMLS:C4021876 xref: UMLS:C4280277 is_a: HP:0006485 ! Agenesis of incisor [Term] id: HP:0400000 name: Tall chin def: "Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin." [eom:96d8ca16a3c80216, pmid:19125436] synonym: "Increased height of chin" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Increased height of menton region" EXACT [ORCID:0000-0001-5889-4463] synonym: "Long chin" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Long lower third of face" RELATED layperson [ORCID:0000-0001-5889-4463] synonym: "Tall chin" EXACT layperson [] synonym: "Vertical excess of chin" EXACT [ORCID:0000-0001-5889-4463] synonym: "Vertical hyperplasia of chin" EXACT [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:471397004 xref: UMLS:C3532221 xref: UMLS:C4021875 is_a: HP:0000306 ! Abnormality of the chin [Term] id: HP:0400001 name: Chin with vertical crease def: "Vertical crease fold situated below the vermilion border of the lower lip and above the fatty pad of the chin with the face at rest." [eom:8a5493c72e0dd13c, pmid:19125436] comment: The vertical shape must be distinguished from H-shaped crease of the chin. synonym: "Chin with vertical crease" EXACT layperson [] synonym: "Chin with vertical furrow" EXACT [ORCID:0000-0001-5889-4463] synonym: "Chin with vertical groove" EXACT [ORCID:0000-0001-5889-4463] synonym: "Chin with vertical sulcus" EXACT [ORCID:0000-0001-5889-4463] synonym: "Chin, vertical crease" EXACT [] synonym: "Cleft chin" EXACT layperson [] synonym: "Vertical chin skin cleft" EXACT [ORCID:0000-0001-5889-4463] synonym: "Vertical menton crease" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4020916 is_a: HP:0000306 ! Abnormality of the chin [Term] id: HP:0400002 name: Extra concha fold def: "Folds or ridges within the concha that are distinct from the crus helix." [eom:40563f1f62db2319, pmid:19152421] synonym: "Concha, Extra Fold" EXACT [] xref: UMLS:C4020915 is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0400003 name: Focal absence of the external ear def: "Absence of a localized portion of the ear that cannot be described by a more precise term (e.g., absent ear lobe)." [eom:5b0e213b31288acd, pmid:19152421] xref: UMLS:C4021874 is_a: HP:0008772 ! Aplasia/Hypoplasia of the external ear [Term] id: HP:0400004 name: Long ear def: "Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear." [eom:2028381d5c61842a, pmid:19152421] comment: The commonly used term Macrotia is a bundled term comprising increased length and width (surface area). synonym: "Long ear" EXACT layperson [] synonym: "Long ears" EXACT layperson [HPO:skoehler] xref: UMLS:C1848657 is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0400005 name: Short ear def: "Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear." [eom:2cff5ac9b681fc73, pmid:19152421] comment: The commonly used term Microtia is a bundled term comprising decreased length and width (surface area). synonym: "Short ear" EXACT layperson [] synonym: "Short ears" EXACT layperson [HPO:skoehler] xref: UMLS:C3551041 is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0400007 name: Polymenorrhea def: "Frequent menses; menstrual cycles lasting less than 21 days." [pmid:22594864] xref: MSH:D008599 xref: SNOMEDCT_US:52754008 xref: UMLS:C0032519 is_a: HP:0000140 ! Abnormality of the menstrual cycle [Term] id: HP:0400008 name: Menometrorrhagia def: "Prolonged/excessive menses and bleeding at irregular intervals." [pmid:22594864] xref: SNOMEDCT_US:314631008 xref: SNOMEDCT_US:351814001 xref: UMLS:C0232943 is_a: HP:0000140 ! Abnormality of the menstrual cycle [Term] id: HP:0410000 name: Abnormality of vomer def: "An abnormality of the vomer." [GOC:NV] synonym: "Abnormality of vomer bone" EXACT [ORCID:0000-0001-5889-4463] synonym: "Defect of vomer" EXACT [] xref: UMLS:C4020914 is_a: HP:0011821 ! Abnormality of facial skeleton [Term] id: HP:0410003 name: Cleft maxillary alveolus def: "Alveolar cleft is a tornado-shaped bone defect in the maxillary arch. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine." [] comment: The palate develops from the frontonasal and maxillary prominences between 4 and 12 weeks of gestation. During gestational weeks 4 to 7, the primary palate originates from the median palatine process, which itself originated from frontonasal prominence. The lip, alveolus, and hard palate anterior to the incisive foramen all share this origin in development. During this period, disruptions of palatal development process can result in primary palate clefting. The secondary palate develops from the lateral palatine processes originating from the maxillary prominences between 7 and 12 weeks, and the hard palate posterior to incisive foramen and the soft palate are developmental products of this process. As such, disruptions during this time will result in secondary palate clefts. The alveolus is a component of the primary palate, and alveolar cleft results from mal-development of the frontonasal prominence. As such, it is most closely related to cleft lip and cleft palate. Generally, alveolar clefts are located between the lateral incisor and canine synonym: "Alveolar cleft" EXACT [] synonym: "Cleft alveolar process of maxilla" NARROW [ORCID:0000-0001-5889-4463] synonym: "Cleft anterior maxilla" EXACT [ORCID:0000-0001-5889-4463] synonym: "Cleft primary palate" BROAD [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:109546001 xref: UMLS:C0432084 xref: UMLS:C4280276 is_a: HP:0000202 ! Oral cleft [Term] id: HP:0410004 name: obsolete Cleft secondary palate is_obsolete: true replaced_by: HP:0000175 [Term] id: HP:0410005 name: Cleft hard palate synonym: "Cleft bony palate" EXACT [ORCID:0000-0001-5889-4463] synonym: "Cleft of hard palate" EXACT [ORCID:0000-0001-5208-3432, ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:448915004 xref: UMLS:C0432090 is_a: HP:0000175 ! Cleft palate [Term] id: HP:0410006 name: Abnormality of ophthalmic artery def: "Abnormality of the first branch of the internal carotid artery." [ORCID:0000-0001-5889-4463] comment: The ophthalmic artery (OA) is the first branch of the internal carotid artery distal to the cavernous sinus. Branches of the OA supply all the structures in the orbit as well as some structures in the nose, face and meninges. synonym: "Ophthalmic artery anomaly" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4073185 is_a: HP:3000062 ! Abnormal internal carotid artery morphology [Term] id: HP:0410007 name: Abnormality of cartilage morphology def: "Any abnormality of cartilage." [ORCID:0000-0001-5208-3432] xref: UMLS:C4073186 is_a: HP:0011842 ! Abnormality of skeletal morphology [Term] id: HP:0410008 name: Abnormality of the peripheral nervous system def: "Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord." [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the peripheral nervous system" EXACT layperson [] xref: UMLS:C4073187 is_a: HP:0000707 ! Abnormality of the nervous system [Term] id: HP:0410009 name: Abnormality of the somatic nervous system def: "Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements." [ORCID:0000-0001-5889-4463] comment: The SoNS consists of afferent and efferent nerves. Afferent nerves are responsible for relaying sensation to the central nervous system; efferent nerves are responsible for stimulating muscle contraction, including all the non-sensory neurons connected with skeletal muscles and skin. xref: UMLS:C4073188 is_a: HP:0410008 ! Abnormality of the peripheral nervous system [Term] id: HP:0410010 name: Abnormality of somatic nerve plexus def: "Any abnormality of the somatic nerve plexus." [ORCID:0000-0001-5889-4463] xref: UMLS:C4073189 is_a: HP:0410009 ! Abnormality of the somatic nervous system [Term] id: HP:0410011 name: Abnormality of masticatory muscle def: "Any abnormality of the masticatory muscle." [ORCID:0000-0001-5208-3432] synonym: "Abnormality of muscles of mastication" EXACT [] xref: UMLS:C4073190 is_a: HP:0045037 ! Abnormality of jaw muscles [Term] id: HP:0410012 name: Abnormal mouth floor morphology def: "Any abnormality of the mouth floor." [ORCID:0000-0001-5208-3432] synonym: "Abnormality of the floor of mouth" EXACT layperson [] synonym: "Abnormality of the mouth floor" EXACT layperson [] xref: UMLS:C4073191 is_a: HP:0000163 ! Abnormal oral cavity morphology [Term] id: HP:0410013 name: Abnormality of the submandibular region def: "Any abnormality of the submandibular region, the region between the mandible and the hyoid bone contains the submandibular and sublingual glands, suprahyoid muscles, submandibular ganglion, and lingual artery." [https://www.dartmouth.edu/~humananatomy/part_8/chapter_49.html, ORCID:0000-0001-5208-3432] xref: UMLS:C4073192 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0410014 name: Abnormality of ganglion def: "An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system." [https://en.wikipedia.org/wiki/Ganglion, ORCID:0000-0001-5889-4463] xref: UMLS:C4073193 is_a: HP:0000707 ! Abnormality of the nervous system [Term] id: HP:0410015 name: Abnormality of ganglion of peripheral nervous system def: "An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system." [https://en.wikipedia.org/wiki/Ganglion, ORCID:0000-0001-5889-4463] xref: UMLS:C4073194 is_a: HP:0410014 ! Abnormality of ganglion [Term] id: HP:0410016 name: Abnormality of cranial ganglion def: "An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system of the cranium." [https://en.wikipedia.org/wiki/Ganglion, ORCID:0000-0001-5889-4463] xref: UMLS:C4073195 is_a: HP:0410014 ! Abnormality of ganglion [Term] id: HP:0410017 name: Otitis externa def: "Inflammation or infection of the external auditory canal (EAC), the auricle, or both." [http://search.medscape.com/search/?q=otitis%20externa, ORCID:0000-0001-5208-3432] synonym: "Swimmer's ear" EXACT layperson [] is_a: HP:0000372 ! Abnormality of the auditory canal [Term] id: HP:0410018 name: Recurrent ear infections def: "Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections." [ORCID:0000-0001-5208-3432] synonym: "Frequent ear infections" EXACT layperson [] synonym: "Recurrent ear infections" EXACT layperson [] is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0410019 name: Epigastric pain def: "Pain that is localized to the region of the upper abdomen immediately below the ribs." [https://www.healthgrades.com/symptoms/epigastric-pain, ORCID:0000-0001-5208-3432] synonym: "Epigastrium pain" EXACT [] is_a: HP:0012531 ! Pain [Term] id: HP:0410020 name: Fish odor def: "Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals." [http://www.medicinenet.com/fish_odor_syndrome_trimethylaminuria/article.htm] synonym: "Fish odour" EXACT layperson [] synonym: "Fishy body odor" EXACT [HPO:skoehler] synonym: "Fishy odor" EXACT layperson [] is_a: HP:0500001 ! Body odor [Term] id: HP:0410021 name: Musty odor def: "Pungent body odor." [] synonym: "Musty odor" EXACT layperson [] synonym: "Musty odour" EXACT layperson [] is_a: HP:0500001 ! Body odor [Term] id: HP:0410022 name: Vaginal fish odor def: "A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA)." [PMID:16086821] synonym: "Vaginal fish odor" EXACT layperson [] synonym: "Vaginal fish odour" EXACT layperson [] is_a: HP:0410020 ! Fish odor [Term] id: HP:0410023 name: Abnormal distribution of cell junction proteins in buccal mucosal cells def: "An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43." [PMCID:PMC4785796] comment: Buccal mucosal cells are harvested from the oral mucosa in the region of the cheek, and can be used as a surrogate tissue to measure cell junction proteins because it is difficult to obtain cells from a tissue of interest such as the myocardium. Cell junction proteins, such as plakoglobin and the major cardiac gap junction protein Cx43 may have an abnormal distribution in diseases such as arrhythmogenic cardiomyopathy. is_a: HP:0031476 ! Abnormal buccal mucosa cell morphology is_a: HP:3000019 ! Abnormality of buccal mucosa created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410026 name: Abnormality of the periodontium def: "Any abnormality of the periodontium." [] is_a: HP:0000164 ! Abnormality of the dentition property_value: http://purl.org/dc/elements/1.1/date 2017-06-20T21:40:50Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410027 name: Alveolar bone loss around teeth def: "A decrease in the amount of alveolar bone around the root of a tooth." [] synonym: "Bone loss around teeth" EXACT [] is_a: HP:0410026 ! Abnormality of the periodontium property_value: http://purl.org/dc/elements/1.1/date 2017-06-20T21:41:41Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410028 name: Recurrent oral herpes def: "Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus." [] synonym: "Recurrent herpes labialis" EXACT [] is_a: HP:0005353 ! Recurrent herpes property_value: http://purl.org/dc/elements/1.1/date 2017-06-20T21:46:19Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410030 name: Cleft lip def: "A gap in the lip or lips." [] synonym: "Cleft lip" EXACT layperson [] synonym: "Cleft of the lip" EXACT [] is_a: HP:0000202 ! Oral cleft property_value: http://purl.org/dc/elements/1.1/date 2017-06-20T22:17:35Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410031 name: Submucous cleft of soft and hard palate def: "Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth." [http://www.cleftline.org/who-we-are/what-we-do/publications/submucous-clefts/] is_a: HP:0000175 ! Cleft palate property_value: http://purl.org/dc/elements/1.1/date 2017-06-20T23:09:33Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410032 name: Cleft of uvula def: "A split or cleft in the uvula resulting from incomplete fusion of the palatine shelves." [https://en.wikipedia.org/wiki/Palatine_uvula] is_a: HP:0000185 ! Cleft soft palate property_value: http://purl.org/dc/elements/1.1/date 2017-06-20T23:30:00Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410033 name: Unilateral alveolar cleft of maxilla def: "One sided alveolar cleft of the maxilla." [] is_a: HP:0010289 ! Cleft of alveolar ridge of maxilla property_value: http://purl.org/dc/elements/1.1/date 2017-06-20T23:37:01Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410034 name: Bilateral alveolar cleft of maxilla def: "Nonmidline alveolar cleft of the maxilla." [] is_a: HP:0010289 ! Cleft of alveolar ridge of maxilla property_value: http://purl.org/dc/elements/1.1/date 2017-06-20T23:37:09Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410035 name: Abnormal T cell activation def: "Any abnormality in the activation of T cells, i.e. the change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific." [] synonym: "Abnormal T lymphocyte activation" EXACT [] synonym: "Abnormal T-cell activation" EXACT [] synonym: "Abnormal T-lymphocyte activation" EXACT [] is_a: HP:0011840 ! Abnormality of T cell physiology property_value: http://purl.org/dc/elements/1.1/date 2017-06-22T19:07:54Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410042 name: Abnormal liver morphology def: "Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage." [MP:0000598] xref: Fyler:4447 is_a: HP:0001392 ! Abnormality of the liver property_value: http://purl.org/dc/elements/1.1/date 2017-09-20T00:22:53Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410043 name: Abnormal neural tube morphology def: "Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord)." [MP:0002151] xref: Fyler:4339 is_a: HP:0002011 ! Morphological abnormality of the central nervous system property_value: http://purl.org/dc/elements/1.1/date 2017-09-20T00:25:37Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410049 name: Abnormality of radial ray comment: An abnormality of the radial ray; the thumb bones and 1st meta carpel. {xref="ORCID:0000-0002-9353-5498"} synonym: "Deformity of radial ray" EXACT [] synonym: "Radial ray abnormality" EXACT [] synonym: "Radial ray anomaly" EXACT [] synonym: "Radial ray deformity" EXACT [] is_a: HP:0002813 ! Abnormality of limb bone morphology property_value: http://purl.org/dc/elements/1.1/date 2017-10-16T20:21:52Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410050 name: Decreased level of 1,5 anhydroglucitol in serum def: "A decrease in the level of 1,5 anhydroglucitol in the serum. 1,5-Anhydrosorbitol is a validated marker of short-term glycemic control. This substance is derived mainly from food, is well absorbed in the intestine, and is distributed to all organs and tissues." [PMID:16731998, PMID:17659063, PMID:9357814] synonym: "Decreased level of 1,5-AG in serum" EXACT [http://www.hmdb.ca/metabolites/HMDB0002712] synonym: "Decreased level of 1,5-anhydro-D-glucitol in serum" EXACT [] synonym: "Decreased level of 1,5-anhydroglucitol in serum" EXACT [http://www.hmdb.ca/metabolites/HMDB0002712] is_a: HP:0011013 ! Abnormal circulating carbohydrate concentration property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T00:26:24Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410051 name: Increased level of 3-hydroxy-3-methylglutaric acid in urine synonym: "An increase in the level of 3-hydroxy-3-methylglutaric acid in the urine." EXACT [PMID:15505778, PMID:23705938] is_a: HP:0003215 ! Dicarboxylic aciduria property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T01:26:32Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410052 name: Increased level of allantoin in serum def: "An increase in the level of allantoin in the serum." [PMID:18636793] is_a: HP:0004364 ! Abnormal circulating nitrogen compound concentration property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T01:42:36Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410053 name: Increased level of GABA in serum def: "An increase in the level of GABA in the serum." [PMID:1485027] synonym: "Increased level of gamma-aminobutyric acid in serum" EXACT [] is_a: HP:0003112 ! Abnormality of serum amino acid level property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T01:56:05Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410054 name: Decreased level of GABA in serum def: "A decrease in the level of GABA in the serum." [PMID:1485027] synonym: "Decreased level of gamma-aminobutyric acid in serum" EXACT [] is_a: HP:0003112 ! Abnormality of serum amino acid level property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T01:56:12Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410055 name: Decreased level of erythritol in urine def: "A decrease in the level of erythritol in the urine." [PMID:14988808] is_a: HP:0031979 ! Abnormal urine carbohydrate level property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T02:15:00Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410056 name: Decreased level of erythritol in CSF def: "A decrease in the level of erythritol in the cerebrospinal fluid." [PMID:14988808] synonym: "Decreased level of erythritol in cerebrospinal fluid" EXACT [] is_a: HP:0025454 ! Abnormal CSF metabolite level is_a: HP:0032207 ! Abnormal cerebrospinal fluid metabolite concentration property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T02:15:08Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410057 name: Increased level of D-threitol in plasma def: "An increase in the level of D-threitol in the plasma." [PMID:14988808] comment: D-threitol, a C4-polyol, is the main end product of D-xylose metabolism in humans. is_a: HP:0011013 ! Abnormal circulating carbohydrate concentration property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T02:34:34Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410058 name: Increased level of D-threitol in CSF def: "An increase in the level of D-threitol in the cerebrospinal fluid." [PMID:14988808] comment: D-threitol, a C4-polyol, is the main end product of D-xylose metabolism in humans. synonym: "Increased level of D-threitol in cerebrospinal fluid" EXACT [] is_a: HP:0025454 ! Abnormal CSF metabolite level is_a: HP:0032207 ! Abnormal cerebrospinal fluid metabolite concentration property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T02:34:44Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410059 name: Increased level of D-threitol in urine def: "An increase in the level of D-threitol in the urine." [PMID:14988808] comment: D-threitol, a C4-polyol, is the main end product of D-xylose metabolism in humans. is_a: HP:0031979 ! Abnormal urine carbohydrate level property_value: http://purl.org/dc/elements/1.1/date 2018-01-27T02:34:50Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410060 name: Decreased level of D-mannose in urine def: "A decrease in the level of D-mannose in the urine." [PMID:2576290, PMID:29099052] comment: D-Mannose is the 2-epimer of glucose. is_a: HP:0031979 ! Abnormal urine carbohydrate level property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:01:57Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410061 name: Increased level of galactitol in plasma def: "An increase in the level of galactitol in the plasma." [PMID:11092512, PMID:7671965] is_a: HP:0011013 ! Abnormal circulating carbohydrate concentration property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:37:31Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410062 name: Increased level of galactitol in urine def: "An increase in the level of galactitol in the urine." [PMID:11092512, PMID:7671965] comment: Galactitol is the reduction product of galactose. is_a: HP:0031979 ! Abnormal urine carbohydrate level property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:38:29Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410063 name: Increased level of galactonate in red blood cells def: "An increase in the level of galactonate in the red blood cells." [PMID:14680973] synonym: "Increased level of galactonate in erythrocytes" EXACT [] synonym: "Increased level of galactonate in RBCs" EXACT HP:0045077 [] is_a: HP:0004354 ! Abnormal circulating carboxylic acid concentration property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:39:38Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410064 name: Increased level of galactitol in red blood cells def: "An increase in the level of galactitol in the red blood cells." [PMID:14680973] synonym: "Increased level of galactitol in erythrocytes" EXACT [] is_a: HP:0011013 ! Abnormal circulating carbohydrate concentration property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:40:39Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410065 name: Increased level of hippuric acid in blood def: "An increase in the level of hippuric acid in the blood." [PMID:22626821] synonym: "Increased level of N-benzoylglycine in blood" EXACT [] is_a: HP:0004354 ! Abnormal circulating carboxylic acid concentration property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:41:34Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410066 name: Increased level of hippuric acid in urine def: "An increase in the level of hippuric acid in the urine." [PMID:19551947, PMID:22626821] synonym: "Increased level of N-benzoylglycine in urine" EXACT [] is_a: HP:0031980 ! Abnormal urine carboxylic acid level property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:42:45Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410067 name: Increased level of L-fucose in urine def: "An increase in the level of L-fucose in the urine." [PMID:2311216] comment: Fucose is a hexose deoxy sugar with the chemical formula C6H12O5. is_a: HP:0031979 ! Abnormal urine carbohydrate level property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:55:21Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410068 name: Increased level of L-glutamic acid in blood def: "An increase in the level of L-glutamic acid in the blood." [PMID:7623444] is_a: HP:0500148 ! Abnormal circulating glutamate concentration property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:56:49Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410069 name: Increased level of propylene glycol in blood def: "An increase in the level of propylene glycol in the blood." [PMID:3426740] synonym: "Increased level of propane-1,2-diol in blood" EXACT [] is_a: HP:0032180 ! Abnormal circulating metabolite concentration property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:57:39Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410070 name: Increased level of ribitol in urine def: "An increase in the level of ribitol in the urine. Ribotol is a crystalline pentose alcohol (C5H12O5) and is a metabolic end product formed by the reduction of ribose." [PMID:14988808, PMID:26054712] is_a: HP:0031979 ! Abnormal urine carbohydrate level property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:58:41Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410071 name: Increased level of ribitol in CSF def: "An increase in the level of ribitol in the cerebral spinal fluid." [PMID:14988808] synonym: "Increased level of ribitol in cerebrospinal fluid" EXACT [] is_a: HP:0032207 ! Abnormal cerebrospinal fluid metabolite concentration property_value: http://purl.org/dc/elements/1.1/date 2018-01-29T22:59:19Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410072 name: Increased level of ribose in urine def: "An increase in the level of ribose in the urine." [PMID:14988808] comment: Ribose is a pentose monosaccharide. is_a: HP:0031979 ! Abnormal urine carbohydrate level property_value: http://purl.org/dc/elements/1.1/date 2018-01-30T00:47:12Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410073 name: Increased level of ribose in CSF def: "An increase in the level of ribose in the cerebrospinal fluid." [PMID:14988808] synonym: "Increased level of ribose in cerebrospinal fluid" EXACT [] is_a: HP:0032207 ! Abnormal cerebrospinal fluid metabolite concentration property_value: http://purl.org/dc/elements/1.1/date 2018-01-30T00:47:46Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410074 name: Increased level of xylitol in urine def: "An increase in the level of xylitol in the urine." [PMID:14988808] is_a: HP:0031979 ! Abnormal urine carbohydrate level property_value: http://purl.org/dc/elements/1.1/date 2018-01-30T00:49:41Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410075 name: Increased level of xylitol in CSF def: "An increase in the level of xylitol in the cerebrospinal fluid." [PMID:14988808] synonym: "Increased level of xylitol in cerebrospinal fluid" EXACT [] is_a: HP:0032207 ! Abnormal cerebrospinal fluid metabolite concentration property_value: http://purl.org/dc/elements/1.1/date 2018-01-30T00:50:08Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410132 name: Increased level of L-pyroglutamic acid in urine def: "An increase in the level of L-pyroglutamic acid in the urine." [PMID:10094443, PMID:4557757] synonym: "Increased level of 5-oxo-L-proline in urine" EXACT [] is_a: HP:0003355 ! Aminoaciduria property_value: http://purl.org/dc/elements/1.1/date 2018-02-22T18:07:36Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410133 name: Chronic idiopathic urticaria def: "Urticaria characterized by spontaneously recurring hives for 6 weeks or longer." [PMID:25807072] synonym: "Chronic spontaneous urticaria" EXACT [PMID:25807072] synonym: "CIU" EXACT HP:0045077 [PMID:25807072] synonym: "CSU" EXACT HP:0045077 [PMID:25807072] is_a: HP:0001025 ! Urticaria property_value: http://purl.org/dc/elements/1.1/date 2018-03-02T19:33:51Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410134 name: Physical urticaria def: "Urticaria caused by physical agents, such as heat, cold, light, friction." [PMID:11702618] is_a: HP:0001025 ! Urticaria property_value: http://purl.org/dc/elements/1.1/date 2018-03-02T19:37:30Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410135 name: Cold urticaria def: "Urticaria may be caused by cold temperatures." [PMID:11702618] is_a: HP:0410134 ! Physical urticaria property_value: http://purl.org/dc/elements/1.1/date 2018-03-02T19:45:27Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410136 name: Aquagenic urticaria def: "A form of physical urticaria, in which contact with water, regardless of its temperature and source, evokes pruritic follicular wheals on the skin." [PMID:22346281] is_a: HP:0410134 ! Physical urticaria property_value: http://purl.org/dc/elements/1.1/date 2018-03-02T19:52:44Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410137 name: Solar urticaria def: "Urticaria in response to exposure to ultraviolet-A (UVA), ultraviolet-B (UVB), visible and rarely infrared light." [PMID:29315482] is_a: HP:0000992 ! Cutaneous photosensitivity is_a: HP:0410134 ! Physical urticaria property_value: http://purl.org/dc/elements/1.1/date 2018-03-02T20:07:52Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410138 name: Vibratory urticaria def: "Urticaria in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum." [PMID:26841242] is_a: HP:0410134 ! Physical urticaria property_value: http://purl.org/dc/elements/1.1/date 2018-03-02T20:14:35Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410139 name: Exercise induced anaphylaxis def: "Anaphylaxis after physical activity." [PMID:7400473] is_a: HP:0100845 ! Anaphylactic shock property_value: http://purl.org/dc/elements/1.1/date 2018-03-02T20:22:59Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410144 name: Abnormal biotinidase activity def: "An abnormality in biotinidase activity, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation." [PMID:29359854] is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity property_value: http://purl.org/dc/elements/1.1/date 2018-03-12T20:12:17Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410145 name: Decreased biotinidase activity def: "A decrease in biotinidase activity, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation." [PMID:29359854] is_a: HP:0410144 ! Abnormal biotinidase activity property_value: http://purl.org/dc/elements/1.1/date 2018-03-12T20:14:33Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410146 name: Increased biotinidase activity def: "An increase in biotinidase activity, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation." [PMID:29359854] is_a: HP:0410144 ! Abnormal biotinidase activity property_value: http://purl.org/dc/elements/1.1/date 2018-03-12T20:15:15Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410147 name: Eosinophilic infiltration in the stomach mucosa def: "Infiltration of eosinophils in the stomach mucosa, that is diagnosed by an upper endoscopy and microscopy that shows more than 20 eosinophils per high-power field in association with peripheral eosinophilia and the absence of secondary cause of eosinophilia." [orcid.org/0000-0001-5208-3432, PMID:23904840] synonym: "Eosinophilic gastritis" EXACT [] is_a: HP:0005263 ! Gastritis is_a: HP:0032064 ! Gastrointestinal eosinophilia property_value: http://purl.org/dc/elements/1.1/date 2018-03-12T20:54:48Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410148 name: Idiopathic anaphylaxis def: "A rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment." [PMID:28890861] is_a: HP:0100845 ! Anaphylactic shock property_value: http://purl.org/dc/elements/1.1/date 2018-03-12T21:12:08Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410149 name: Drug-induced anaphylaxis def: "A form of anaphylaxis that is triggered by intake of drugs or medications." [PMID:29135486] synonym: "Drug induced anaphylaxis" EXACT [] is_a: HP:0100845 ! Anaphylactic shock property_value: http://purl.org/dc/elements/1.1/date 2018-03-12T21:33:42Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410151 name: Eosinophilic infiltration of the esophagus def: "Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus." [PMID:27158535] synonym: "Eosinophilic infiltration of the oesophagus" EXACT [] is_a: HP:0032064 ! Gastrointestinal eosinophilia is_a: HP:0100633 ! Esophagitis property_value: http://purl.org/dc/elements/1.1/date 2018-03-13T04:36:03Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410152 name: Eosinophilic microabscess formation in the esophagus def: "The formation of small localized collection of eosinophiles (an eosinophilic microabscess) in the esophagus. Usually clusters of greater than or equal to 4 eosinophils are seen, that appear as exudates or white spots or white plaques." [PMID:27158535] synonym: "Eosinophilic micro-abscess formation in the esophagus" EXACT [] synonym: "Eosinophilic microabscess formation in the oesophagus" EXACT [] is_a: HP:0100633 ! Esophagitis property_value: http://purl.org/dc/elements/1.1/date 2018-03-13T04:43:53Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410153 name: Increased level of methylsuccinic acid in urine def: "An increase in the level of methylsuccinic acid in the urine." [PMID:16828325, PMID:19343532, PMID:3571488, PMID:6616873] synonym: "Increased level of pyrotartaric acid in urine" EXACT [PMID:16828325, PMID:19343532, PMID:3571488, PMID:6616873] is_a: HP:0003215 ! Dicarboxylic aciduria property_value: http://purl.org/dc/elements/1.1/date 2018-03-27T21:49:40Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410154 name: Increased level of myristic acid in serum def: "An increase in the level of myristic acid in the serum." [PMID:22024767] synonym: "Increased level of tetradecanoic acid in serum" EXACT [] is_a: HP:0010996 ! Abnormal circulating monocarboxylic acid cocentration property_value: http://purl.org/dc/elements/1.1/date 2018-03-27T21:58:16Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410156 name: Increased level of N-acetylneuraminic acid in urine def: "An increase in the level of N-acetylneuraminic acid in the urine." [PMID:7398077] synonym: "Increased level of NANA in urine" EXACT [] synonym: "Increased level of Neu5Ac in urine" EXACT [] is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: http://purl.org/dc/elements/1.1/date 2018-03-28T00:27:38Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410157 name: Increased level of N-acetylneuraminic acid in fibroblasts def: "An increase in the level of N-acetylneuraminic acid in cultured fibroblasts." [PMID:11992753] synonym: "Increased level of NANA in fibroblasts" EXACT [] synonym: "Increased level of Neu5Ac in fibroblasts" EXACT [] synonym: "Increased level of sialic acid in fibroblasts" EXACT [] is_a: HP:0032243 ! Abnormal tissue metabolite concentration property_value: http://purl.org/dc/elements/1.1/date 2018-03-28T19:40:00Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410158 name: Increased level of O-phosphoethanolamine in urine def: "An increase in the level of O-phosphoethanolamine in the urine." [PMID:23093139] synonym: "Increased level of ALPL in urine" EXACT [] is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: http://purl.org/dc/elements/1.1/date 2018-03-28T19:43:27Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410166 name: Defective interstrand cross-link repair def: "A defect in the of the process of interstrand cross-link repair: removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication." [GO:0036297, PMID:16464006, PMID:22064477] is_a: HP:0003254 ! Abnormality of DNA repair property_value: http://purl.org/dc/elements/1.1/date 2018-05-01T17:32:00Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410167 name: Abnormality of the chest musculature def: "Any abnormality of the chest muscles." [] synonym: "Muscle issues in the chest" BROAD layperson [] is_a: HP:0003011 ! Abnormality of the musculature property_value: http://purl.org/dc/elements/1.1/date 2018-05-01T17:37:03Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410168 name: Abnormality of the back musculature def: "Any abnormality of the back muscles." [] synonym: "Muscle issues in the back" BROAD layperson [] is_a: HP:0003011 ! Abnormality of the musculature property_value: http://purl.org/dc/elements/1.1/date 2018-05-01T17:38:59Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410169 name: Abnormality of the shoulder musculature def: "Any abnormality of the shoulder muscles." [] synonym: "Muscle issues in the shoulder" EXACT layperson [] is_a: HP:0003011 ! Abnormality of the musculature property_value: http://purl.org/dc/elements/1.1/date 2018-05-01T17:39:54Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410170 name: Hippocampal atrophy def: "Partial or complete wasting (loss) of hippocampus tissue that was once present." [] synonym: "Atrophy of the hippocampus" EXACT [] synonym: "Degeneration of the hippocampus" EXACT [] is_a: HP:0025100 ! Abnormal morphology of the hippocampus property_value: http://purl.org/dc/elements/1.1/date 2018-05-07T18:29:30Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410171 name: Increased cotinine level def: "Increased concentration of cotinine in urine." [] comment: Cotinine is the main metabolite of nicotine and accumulates in the body as a result of tobacco exposure. In humans, cotinine is excreted in the urine, mainly as trans-3[prime]-hydroxycotinine and glucuronide. This is used as a measure for exposure to tobacco smoke. is_a: HP:0031840 ! Urine xenobiotic property_value: http://purl.org/dc/elements/1.1/date 2018-05-18T17:47:54Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410172 name: Blood xenobiotic def: "The presence of a xenobiotic in blood." [] is_a: HP:0031838 ! Presence of xenobiotic property_value: http://purl.org/dc/elements/1.1/date 2018-05-18T18:31:08Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410173 name: Increased troponin I level in blood def: "An increased concentration of tropnin I in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction." [] is_a: HP:0500020 ! Abnormal cardiac biomarker test property_value: http://purl.org/dc/elements/1.1/date 2018-05-18T20:20:47Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410174 name: Increased troponin T level in blood def: "An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction." [PMID:15452153] is_a: HP:0500020 ! Abnormal cardiac biomarker test property_value: http://purl.org/dc/elements/1.1/date 2018-05-18T20:21:02Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410175 name: Hyperketonemia def: "An increase in the level of ketone bodies in the blood." [PMID:27036365] synonym: "Increased level of ketone bodies in blood" EXACT layperson [] synonym: "Ketonemia" EXACT [] is_a: HP:0001946 ! Ketosis property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T17:36:23Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410176 name: Abnormal glucose-6-phosphate dehydrogenase level def: "An anomaly in the level of glucose-6-phosphate dehydrogenase." [] synonym: "Abnormal G6PD level" EXACT HP:0045077 [] is_a: HP:0010876 ! Abnormal circulating protein level property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T17:49:08Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410177 name: Abnormal glucose-6-phosphate dehydrogenase level in blood def: "An anomaly in the level of glucose-6-phosphate dehydrogenase in the blood." [PMID:24787449] synonym: "Abnormal G6PD level in blood" EXACT HP:0045077 [] is_a: HP:0410176 ! Abnormal glucose-6-phosphate dehydrogenase level property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T17:54:53Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410178 name: Increased glucose-6-phosphate dehydrogenase level in blood def: "An increase in the level of glucose-6-phosphate dehydrogenase in the blood." [] synonym: "Increased G6PD level in blood" EXACT HP:0045077 [] is_a: HP:0410177 ! Abnormal glucose-6-phosphate dehydrogenase level in blood property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T17:55:36Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410179 name: Decreased glucose-6-phosphate dehydrogenase level in blood def: "A decrease in the level of glucose-6-phosphate dehydrogenase in the blood." [PMID:24787449] synonym: "Decreased G6PD level in blood" EXACT HP:0045077 [] is_a: HP:0410177 ! Abnormal glucose-6-phosphate dehydrogenase level in blood property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T17:55:41Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410180 name: Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot def: "An anomaly in the level of glucose-6-phosphate dehydrogenase in a dried blood spot." [PMID:28479150] synonym: "Abnormal G6PD level in dried blood spot" EXACT HP:0045077 [] synonym: "Abnormal glucose-6-phosphate dehydrogenase level in DBS" EXACT [] is_a: HP:0410176 ! Abnormal glucose-6-phosphate dehydrogenase level property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T17:57:23Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410181 name: Increased glucose-6-phosphate dehydrogenase level in dried blood spot def: "An increase in the level of glucose-6-phosphate dehydrogenase in a dried blood spot." [PMID:28479150] synonym: "Increased G6PD level in dried blood spot" EXACT HP:0045077 [] synonym: "Increased glucose-6-phosphate dehydrogenase level in DBS" EXACT [] is_a: HP:0410180 ! Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T17:58:20Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410182 name: Decreased glucose-6-phosphate dehydrogenase level in dried blood spot def: "A decrease in the level of glucose-6-phosphate dehydrogenase in a dried blood spot." [PMID:28479150] synonym: "Decreased G6PD level in dried blood spot" EXACT HP:0045077 [] synonym: "Decreased glucose-6-phosphate dehydrogenase level in DBS" EXACT [] is_a: HP:0410180 ! Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T17:58:29Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410183 name: Abnormal glucose-6-phosphate dehydrogenase level in leukocytes def: "An anomaly in the level of glucose-6-phosphate dehydrogenase in leukocytes." [https://doi.org/10.1016/B978-0-12-383834-6.00086-0] synonym: "Abnormal G6PD level in leukocytes" EXACT HP:0045077 [] is_a: HP:0410176 ! Abnormal glucose-6-phosphate dehydrogenase level property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T18:00:54Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410184 name: Abnormal glucose-6-phosphate dehydrogenase level in red blood cells def: "An anomaly in the level of glucose-6-phosphate dehydrogenase in red blood cells." [PMID:18942156] synonym: "Abnormal G6PD level in RBCs" EXACT HP:0045077 [] synonym: "Abnormal G6PD level in red blood cells" EXACT HP:0045077 [] is_a: HP:0410176 ! Abnormal glucose-6-phosphate dehydrogenase level property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T18:01:06Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410185 name: Abnormal glucose-6-phosphate dehydrogenase level in tissue def: "An anomaly in the level of glucose-6-phosphate dehydrogenase in tissue." [] synonym: "Abnormal G6PD level in tissue" EXACT HP:0045077 [] is_a: HP:0410176 ! Abnormal glucose-6-phosphate dehydrogenase level property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T18:01:15Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410186 name: Increased glucose-6-phosphate dehydrogenase level in tissue def: "An increase in the level of glucose-6-phosphate dehydrogenase in tissue." [] synonym: "Increased G6PD level in tissue" EXACT HP:0045077 [] is_a: HP:0410185 ! Abnormal glucose-6-phosphate dehydrogenase level in tissue property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T18:03:24Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410187 name: Decreased glucose-6-phosphate dehydrogenase level in tissue def: "A decrease in the level of glucose-6-phosphate dehydrogenase in tissue." [] synonym: "Decreased G6PD level in tissue" EXACT HP:0045077 [] is_a: HP:0410185 ! Abnormal glucose-6-phosphate dehydrogenase level in tissue property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T18:03:29Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410188 name: Decreased glucose-6-phosphate dehydrogenase level in red blood cells def: "A decrease in the level of glucose-6-phosphate dehydrogenase in red blood cells." [PMID:18942156] synonym: "Decreased G6PD level in RBCs" EXACT HP:0045077 [] synonym: "Decreased G6PD level in red blood cells" EXACT HP:0045077 [] is_a: HP:0410184 ! Abnormal glucose-6-phosphate dehydrogenase level in red blood cells property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T18:03:36Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410189 name: Increased glucose-6-phosphate dehydrogenase level in red blood cells def: "An increase in the level of glucose-6-phosphate dehydrogenase in red blood cells." [] synonym: "Increased G6PD level in RBCs" EXACT HP:0045077 [] synonym: "Increased G6PD level in red blood cells" EXACT HP:0045077 [] is_a: HP:0410184 ! Abnormal glucose-6-phosphate dehydrogenase level in red blood cells property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T18:03:42Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410190 name: Decreased glucose-6-phosphate dehydrogenase level in leukocytes def: "A decrease in the level of glucose-6-phosphate dehydrogenase in leukocytes." [https://doi.org/10.1016/B978-0-12-383834-6.00086-0] synonym: "Decreased G6PD level in leukocytes" EXACT HP:0045077 [] is_a: HP:0410183 ! Abnormal glucose-6-phosphate dehydrogenase level in leukocytes property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T18:04:02Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410191 name: Increased glucose-6-phosphate dehydrogenase level in leukocytes def: "An increase in the level of glucose-6-phosphate dehydrogenase in leukocytes." [] synonym: "Increased G6PD level in leukocytes" EXACT HP:0045077 [] is_a: HP:0410183 ! Abnormal glucose-6-phosphate dehydrogenase level in leukocytes property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T18:04:08Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410192 name: Abnormal uridine diphosphate glucose-4-epimerase activity def: "An abnormality in uridine diphosphate glucose-4-epimerase activity, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose." [] synonym: "Abnormal UDP-glucose 4-epimerase activity" EXACT [] is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T18:22:02Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410193 name: Abnormal uridine diphosphate glucose-4-epimerase activity in plasma def: "An abnormality in uridine diphosphate glucose-4-epimerase activity in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose." [] synonym: "Abnormal UDP-glucose 4-epimerase activity activity in plasma" EXACT [] is_a: HP:0410192 ! Abnormal uridine diphosphate glucose-4-epimerase activity property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T18:23:41Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410194 name: Increased uridine diphosphate glucose-4-epimerase activity in plasma def: "An increase in uridine diphosphate glucose-4-epimerase activity in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose." [] synonym: "Increased UDP-glucose 4-epimerase activity activity in plasma" EXACT [] is_a: HP:0410193 ! Abnormal uridine diphosphate glucose-4-epimerase activity in plasma property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T18:23:47Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410195 name: Decreased uridine diphosphate glucose-4-epimerase activity in plasma def: "A decrease in uridine diphosphate glucose-4-epimerase activity in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose." [] synonym: "Decreased UDP-glucose 4-epimerase activity activity in plasma" EXACT [] is_a: HP:0410193 ! Abnormal uridine diphosphate glucose-4-epimerase activity in plasma property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T18:23:54Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410196 name: Abnormal uridine diphosphate glucose-4-epimerase activity in red blood cells def: "An abnormality in uridine diphosphate glucose-4-epimerase activity in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose." [] synonym: "Abnormal UDP-glucose 4-epimerase activity activity in RBCs" EXACT HP:0045077 [] synonym: "Abnormal UDP-glucose 4-epimerase activity activity in red blood cells" EXACT HP:0045077 [] is_a: HP:0410192 ! Abnormal uridine diphosphate glucose-4-epimerase activity property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T18:24:02Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410197 name: Increased uridine diphosphate glucose-4-epimerase activity in red blood cells def: "An increase in uridine diphosphate glucose-4-epimerase activity in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose." [] synonym: "Increased UDP-glucose 4-epimerase activity activity in RBCs" EXACT HP:0045077 [] synonym: "Increased UDP-glucose 4-epimerase activity activity in red blood cells" EXACT HP:0045077 [] is_a: HP:0410196 ! Abnormal uridine diphosphate glucose-4-epimerase activity in red blood cells property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T18:24:12Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410198 name: Decreased uridine diphosphate glucose-4-epimerase activity in red blood cells def: "A decrease in uridine diphosphate glucose-4-epimerase activity in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose." [] synonym: "Decreased UDP-glucose 4-epimerase activity activity in RBCs" EXACT HP:0045077 [] synonym: "Decreased UDP-glucose 4-epimerase activity activity in red blood cells" EXACT HP:0045077 [] is_a: HP:0410196 ! Abnormal uridine diphosphate glucose-4-epimerase activity in red blood cells property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T18:24:19Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410199 name: Increased CSF urate concentration def: "Increased concentration of urate in the cerebrospinal fluid." [] synonym: "Elevated CSF urate concentration" EXACT HP:0045077 [] synonym: "Increased cerebrospinal fluid urate" EXACT [] is_a: HP:0500117 ! Abnormal CSF urate concentration property_value: http://purl.org/dc/elements/1.1/date 2018-07-20T22:56:41Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410200 name: Positive meconium barbiturate test def: "Detection of barbiturate metabolites such as phenobarbital in meconium." [] is_a: HP:0500098 ! Meconium xenobiotic property_value: http://purl.org/dc/elements/1.1/date 2018-07-20T23:02:36Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410201 name: Positive hair barbiturate test def: "Detection of barbiturate metabolites such as phenobarbital in the hair." [] is_a: HP:0500099 ! Hair xenobiotic property_value: http://purl.org/dc/elements/1.1/date 2018-07-20T23:03:14Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410202 name: Positive stool barbiturate test def: "Detection of barbiturate metabolites such as phenobarbital in the stool." [] is_a: HP:0500097 ! Stool xenobiotic property_value: http://purl.org/dc/elements/1.1/date 2018-07-20T23:04:11Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410203 name: Positive gastric fluid barbiturate test def: "Detection of barbiturate metabolites such as phenobarbital in the gastric fluid." [] is_a: HP:0500101 ! Gastric fluid xenobiotic property_value: http://purl.org/dc/elements/1.1/date 2018-07-20T23:04:36Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410204 name: Increased intestinal transit time def: "An increase in the length of time required for food to pass through the intestines." [PMID:22206545] is_a: HP:0030896 ! Abnormal gastrointestinal transit time property_value: http://purl.org/dc/elements/1.1/date 2018-08-15T02:19:44Z xsd:dateTime created_by: ORCID:0000-0001-5208-3432 [Term] id: HP:0410205 name: Abnormal circulating nicotinurate level def: "Any deviation from the normal concentration of nicotinurate in the blood." [] comment: Nicotinuric acid is an acyl glycine, which are normally minor metabolites of fatty acids. However, the excretion of certain acyl glycines is increased in several inborn errors of metabolism. In certain cases the measurement of these metabolites in body fluids can be used to diagnose disorders associated with mitochondrial fatty acid beta-oxidation. Nicotinuric acid is the major detoxification product of nicotinic acid. It may serve as a simple quantitative index of hepatic biotransformation of nicotinic acid. {xref="PMID:3243933"} synonym: "Abnormal circulating N-nicotinoylglycine level" EXACT [] is_a: HP:0004364 ! Abnormal circulating nitrogen compound concentration property_value: http://purl.org/dc/elements/1.1/date 2018-09-11T23:40:08Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410206 name: Increased circulating nicotinurate level def: "An increased amount of nicotinurate in the blood." [] synonym: "Increased circulating N-nicotinoylglycine level" EXACT [] is_a: HP:0410205 ! Abnormal circulating nicotinurate level property_value: http://purl.org/dc/elements/1.1/date 2018-09-11T23:40:36Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410207 name: Positive methadone plasma/serum test def: "Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in plasma or serum." [] comment: Methadone is an opioid drug that is used to treat severe pain or in the treatment of individiuals with opioid dependency. is_a: HP:0500100 ! Plasma/serum xenobiotic property_value: http://purl.org/dc/elements/1.1/date 2018-09-11T23:47:39Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410208 name: Positive plasma/serum cotinine test def: "Detection of cotinine, an alkaloid found in tobacco and the predominant metabolite of nicotine, in plasma or serum." [PMID:10027825] comment: Cotinine is used as a biomarker for exposure to tobacco smoke. is_a: HP:0500100 ! Plasma/serum xenobiotic property_value: http://purl.org/dc/elements/1.1/date 2018-09-11T23:57:25Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410209 name: Folate deficiency in CSF def: "A reduced concentration of folic acid, which is also known as vitamin B9 in the cerebrospinal fluid." [PMID:15581159] comment: Cerebral folate deficiency is usually measured as low levels of folate in the CSF, in the presence of normal folate metabolism outside the nervous system. synonym: "Folate deficiency in cerebrospinal fluid" EXACT [] is_a: HP:0012335 ! Abnormality of folate metabolism property_value: http://purl.org/dc/elements/1.1/date 2018-09-12T00:12:26Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410210 name: Abnormal cord blood measurement def: "An abnormality in any umbilical cord measurement performed after birth, such as the blood gas level." [PMID:7926229] is_a: HP:0010881 ! Abnormality of the umbilical cord property_value: http://purl.org/dc/elements/1.1/date 2018-09-12T00:35:41Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410211 name: Abnormal blood gas level in cord blood is_a: HP:0410210 ! Abnormal cord blood measurement property_value: http://purl.org/dc/elements/1.1/date 2018-09-12T00:44:12Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410212 name: Hyperoxemia in cord blood def: "An abnormally high level of blood oxygen in the cord blood." [] synonym: "High cord blood oxygen level" EXACT layperson [] is_a: HP:0500259 ! Abnormal oxygen level in cord blood property_value: http://purl.org/dc/elements/1.1/date 2018-09-12T00:44:20Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410213 name: Hypoxemia in cord blood def: "An abnormally low level of blood oxygen in the cord blood." [] synonym: "Low cord blood oxygen level" EXACT layperson [] is_a: HP:0500259 ! Abnormal oxygen level in cord blood property_value: http://purl.org/dc/elements/1.1/date 2018-09-12T00:44:25Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410214 name: Hypercapnia in cord blood def: "Abnormally elevated blood carbon dioxide (CO2) level in the cord blood." [] synonym: "High cord blood carbon dioxide level" EXACT layperson [] is_a: HP:0500258 ! Abnormal carbon dioxide level in cord blood property_value: http://purl.org/dc/elements/1.1/date 2018-09-12T00:44:30Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410215 name: Hypocapnia in cord blood def: "Abnormally decreased blood carbon dioxide (CO2) level in the cord blood." [] synonym: "Low cord blood carbon dioxide level" EXACT layperson [] is_a: HP:0500258 ! Abnormal carbon dioxide level in cord blood property_value: http://purl.org/dc/elements/1.1/date 2018-09-12T00:44:35Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410216 name: Abnormal blood 5-methyltetrahydrofolate level def: "An abnormal concentration of 5-methyltetrahydrofolate in the blood." [] is_a: HP:0012335 ! Abnormality of folate metabolism property_value: http://purl.org/dc/elements/1.1/date 2018-09-12T00:50:35Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410217 name: Reduced blood 5-methyltetrahydrofolate level def: "A decreased concentration of 5-methyltetrahydrofolate in the blood." [] is_a: HP:0410216 ! Abnormal blood 5-methyltetrahydrofolate level property_value: http://purl.org/dc/elements/1.1/date 2018-09-12T00:51:49Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410218 name: Hypoplasia of maxilla relative to mandible def: "Abnormally small dimension of the maxilla (upper jaw) relative to the mandible (lower jaw)." [https://orcid.org/0000-0001-5889-4463, https://www.researchgate.net/publication/277918795_Nonsyndromic_oligodontia_A_rare_case_report] synonym: "Disorder of maxillary and mandibular dental arch relationship" EXACT [] is_a: HP:0000327 ! Hypoplasia of the maxilla property_value: http://purl.org/dc/elements/1.1/date 2018-09-25T00:46:15Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410219 name: Hypoplasia of mandible relative to maxilla def: "Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw)." [https://orcid.org/0000-0001-5889-4463] synonym: "Disorder of mandibular and maxillary dental arch relationship" EXACT [] is_a: HP:0000347 ! Micrognathia property_value: http://purl.org/dc/elements/1.1/date 2018-09-25T00:54:14Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410220 name: Increased anti-dairy protein IgE antibody level def: "Increased level of IgE antibody against dairy proteins, including casein, alpha-lactalbumin, beta-lactoglobulin or bovine serum albumin contained in cow, sheep or goat milk and milk products." [PMID:26433529] synonym: "Increased anti-dairy IgE antibody level" RELATED [] is_a: HP:0410227 ! Increased anti-food allergen IgE antibody level property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T16:47:11Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410221 name: Increased anti-animal protein IgE antibody level def: "Increased level of IgE antibody against animal proteins, such as albumins that are present in animal hair, dander, shed skin, saliva and urine." [PMID:8543754] comment: For animal dander annotations, there is a more specific subclass of this term. synonym: "Increased level of anti-animal protein IgE antibody" EXACT [] is_a: HP:0032336 ! Increased circulating specific IgE antibody property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T16:51:13Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410222 name: Increased anti-seafood IgE antibody level def: "Increased level of IgE antibody against seafood, including fish, shrimp, lobster, crab, squid and abalone." [PMID:14719162] synonym: "Increased level of anti-seafood IgE antibody" EXACT [] is_a: HP:0410227 ! Increased anti-food allergen IgE antibody level property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T16:51:45Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410223 name: Increased anti-dust mite IgE antibody level def: "Increased level of IgE antibody against dust mites, such as house dust mites." [https://www.atsjournals.org/doi/abs/10.1164/arrd.1982.125.1.80] synonym: "Increased level of anti-dust mite IgE antibody" EXACT [] is_a: HP:0032336 ! Increased circulating specific IgE antibody property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T16:52:07Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410224 name: Increased anti-bacteria IgE antibody level def: "Increased level of IgE antibody against bacteria." [] synonym: "Increased level of anti-bacteria IgE antibody" EXACT [] is_a: HP:0032336 ! Increased circulating specific IgE antibody property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T16:52:57Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410225 name: Increased anti-drug IgE antibody level def: "Increased level of IgE antibody against a drug or class of drugs, such as antibiotics." [PMID:7835691] synonym: "Increased level of anti-drug IgE antibody" EXACT [] is_a: HP:0032336 ! Increased circulating specific IgE antibody property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T18:09:35Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410226 name: Increased anti-feather IgE antibody level def: "Increased level of IgE antibody against feathers, which could be indicative of an allergy against feathers themselves, or mite allergens present in feathers." [PMID:9534914] is_a: HP:0032336 ! Increased circulating specific IgE antibody property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T18:40:30Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410227 name: Increased anti-food allergen IgE antibody level def: "Increased level of IgE antibody against proteins found in foods, such as milk, egg, soy, wheat, peanut, treenut, fish, and shellfish." [PMID:23229594] synonym: "Increased level of anti-food allergen IgE antibody" EXACT [] is_a: HP:0032336 ! Increased circulating specific IgE antibody property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T21:27:03Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410228 name: Increased anti-plant based food allergen IgE antibody level def: "Increased level of IgE antibody against a plant based food allergen, including vegetables and fruits." [PMID:26549334] synonym: "Increased level of anti-plant based food allergen IgE antibody" EXACT [] is_a: HP:0410227 ! Increased anti-food allergen IgE antibody level property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T21:28:37Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410229 name: Increased anti-gluten IgE antibody level def: "Increased level of IgE antibody against gluten, a protein found in wheat, barley, and rye." [PMID:25788950] synonym: "Increased level of anti-gluten IgE antibody" EXACT [] is_a: HP:0410227 ! Increased anti-food allergen IgE antibody level property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T21:29:41Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410230 name: Increased anti-nut food product IgE antibody level def: "Increased level of IgE antibody against nut food products such as peanuts or tree nuts, such as hazelnuts, walnuts, cashews, and almonds." [PMID:12915766, PMID:23229594] is_a: HP:0410227 ! Increased anti-food allergen IgE antibody level property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T21:34:16Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410231 name: Increased anti-egg IgE antibody level def: "Increased level of IgE antibody against eggs, including egg whites, egg yolks, and egg proteins such as ovoalbumin and ovomucoid." [PMID:11591198] is_a: HP:0410227 ! Increased anti-food allergen IgE antibody level property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T21:39:10Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410232 name: Increased anti-fungi IgE antibody level def: "Increased level of IgE antibody against fungus, such as molds like zygomycota, ascomycota and deuteromycota." [PMID:12402012] synonym: "Increased anti-fungal IgE antibody level" EXACT [] synonym: "Increased anti-fungus IgE antibody level" EXACT [] is_a: HP:0032336 ! Increased circulating specific IgE antibody property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T21:57:01Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410233 name: Increased anti-meat allergen IgE antibody level def: "Increased level of IgE antibody against meat, such as mammalian meat, including beef or pork, or poultry, like duck or chicken." [PMID:30182427] is_a: HP:0410227 ! Increased anti-food allergen IgE antibody level property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T22:02:09Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410234 name: Increased anti-parasite IgE antibody level def: "Increased level of IgE antibody against parasites, such as helminths (parasitic worms, such as Ascaris lumbricoides, Trichuris trichiura, Ancylostoma duodenalis, Necator americanus, Strongyloides stercoralis) or parasites such as Toxoplasma gondii." [https://doi.org/10.1007/s40475-015-0058-7] is_a: HP:0032336 ! Increased circulating specific IgE antibody property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T22:42:54Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410235 name: Increased anti-insect IgE antibody level def: "Increased level of IgE antibody against antigens from insects such as moths, mosquitos, or cockroaches." [PMID:21913205] is_a: HP:0032336 ! Increased circulating specific IgE antibody property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T22:38:30Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410236 name: Increased anti-venom IgE antibody level def: "Increased level of IgE antibody against venom from insects such as bees, wasps, hornets, yellowjackets." [PMID:21913205] is_a: HP:0410235 ! Increased anti-insect IgE antibody level property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T22:40:21Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410238 name: Increased anti-plant product IgE antibody level def: "Increased level of IgE antibody against antigens from plants and products derived from plants, such as wood or pollen." [] is_a: HP:0032336 ! Increased circulating specific IgE antibody property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T23:09:00Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410239 name: Positive urine norcotinine test def: "Detection of norcotinine, a metabolite of nicotine, in urine." [] is_a: HP:0031840 ! Urine xenobiotic property_value: http://purl.org/dc/elements/1.1/date 2018-10-09T23:11:26Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410240 name: Abnormal IgA level def: "An abnormal deviation from normal levels of IgA immunoglobulin in blood." [] is_a: HP:0010701 ! Abnormal immunoglobulin level property_value: http://purl.org/dc/elements/1.1/date 2018-10-12T20:32:11Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410241 name: Abnormal IgE level def: "An abnormal deviation from normal levels of IgE immunoglobulin in blood." [] is_a: HP:0010701 ! Abnormal immunoglobulin level property_value: http://purl.org/dc/elements/1.1/date 2018-10-12T20:32:27Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410242 name: Abnormal IgG level def: "An abnormal deviation from normal levels of IgG immunoglobulin in blood." [] is_a: HP:0010701 ! Abnormal immunoglobulin level property_value: http://purl.org/dc/elements/1.1/date 2018-10-12T20:32:38Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410243 name: Abnormal IgM level def: "An abnormal deviation from normal levels of IgM immunoglobulin in blood." [] is_a: HP:0010701 ! Abnormal immunoglobulin level property_value: http://purl.org/dc/elements/1.1/date 2018-10-12T20:32:45Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410244 name: Abnormal IgD level def: "An abnormal deviation from normal levels of IgD immunoglobulin in blood." [] is_a: HP:0010701 ! Abnormal immunoglobulin level property_value: http://purl.org/dc/elements/1.1/date 2018-10-12T20:42:13Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410245 name: Decreased circulating total IgD def: "An abnormally decreased level of immunoglobulin D (IgD) in blood." [] synonym: "Decreased IgD" EXACT [] synonym: "IgD deficiency" EXACT [] is_a: HP:0004313 ! Decreased antibody level in blood is_a: HP:0410244 ! Abnormal IgD level property_value: http://purl.org/dc/elements/1.1/date 2018-10-12T20:43:37Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410246 name: Increased circulating IgD level def: "An abnormally increased level of immunoglobulin D in blood." [] synonym: "Elevated IgD" EXACT [] synonym: "Elevated serum IgD" EXACT [] synonym: "IgD hypergammaglobulinemia" EXACT [] synonym: "Increased IgD level" EXACT [] synonym: "Increased levels of IgD" EXACT [] synonym: "Increased serum IgD" EXACT [] is_a: HP:0010702 ! Increased antibody level in blood is_a: HP:0410244 ! Abnormal IgD level property_value: http://purl.org/dc/elements/1.1/date 2018-10-12T20:43:48Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410247 name: Increased anti-animal dander IgE antibody level def: "Increased level of IgE antibody against animal dander, tiny scales shed from animal skin or hair, such as from pet dogs or cats." [] synonym: "Increased level of anti-dander IgE antibody" EXACT [] is_a: HP:0410221 ! Increased anti-animal protein IgE antibody level property_value: http://purl.org/dc/elements/1.1/date 2018-10-12T20:49:45Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410248 name: Increased anti-house dust mite IgE antibody level def: "Increased level of IgE antibody against house dust mites, a common allergen." [] synonym: "Increased anti-house dust IgE antibody level" EXACT [] synonym: "Increased level of anti-house dust IgE antibody" EXACT [] is_a: HP:0410223 ! Increased anti-dust mite IgE antibody level property_value: http://purl.org/dc/elements/1.1/date 2018-10-12T20:56:01Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410249 name: Increased anti-alpha-gal IgE antibody level def: "Increased level of IgE antibody against galactose-alpha-1, 3 galactose (alpha-gal), a carbohydrate found in mammalian meat." [PMID:29986992] synonym: "Increased anti-galactose-alpha-1, 3 galactose IgE antibody level" EXACT [] is_a: HP:0032336 ! Increased circulating specific IgE antibody property_value: http://purl.org/dc/elements/1.1/date 2018-10-15T17:54:02Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410251 name: Abnormal L-selectin shedding def: "An abnormality in the cleavage of L-selectin during the process of guiding neutrophils to the site of infection. Proteolytic cleavage of L-selectin results in rapid shedding from the cell surface, which has a role in neutrophil rolling and accumulation at the site of infection." [PMID:8614468] is_a: HP:0011990 ! Abnormality of neutrophil physiology property_value: http://purl.org/dc/elements/1.1/date 2018-10-19T17:56:39Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410252 name: Chronic neutropenia def: "Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months." [PMID:23953336] is_a: HP:0001875 ! Neutropenia property_value: http://purl.org/dc/elements/1.1/date 2018-10-19T18:25:23Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410253 name: Chronic neutropenia in myeloid maturation arrest in bone marrow def: "Chornic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow." [PMID:23233578] is_a: HP:0410252 ! Chronic neutropenia property_value: http://purl.org/dc/elements/1.1/date 2018-10-19T18:41:56Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410254 name: Cyclic neutropenia in myeloid maturation arrest in bone marrow def: "Cyclic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow." [PMID:23233578] is_a: HP:0040289 ! Cyclic neutropenia property_value: http://purl.org/dc/elements/1.1/date 2018-10-19T18:52:02Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410255 name: Transient neutropenia def: "A transient reduction in the number of neutrophils in the peripheral blood. Transient neutropenia is most commonly associated with viral infections, but other causes include drugs and autoimmunity." [PMID:23953336] is_a: HP:0001875 ! Neutropenia property_value: http://purl.org/dc/elements/1.1/date 2018-10-19T18:57:52Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410256 name: Infection associated neutropenia def: "Transient neutropenia caused by an infection, such as with a virus, bacteria or protozoan." [PMID:23953336] is_a: HP:0410255 ! Transient neutropenia property_value: http://purl.org/dc/elements/1.1/date 2018-10-19T19:13:46Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410257 name: Neutrophilia in presence of infection def: "An increased number of neutrophils circulating in the blood during an infection, such as with a bacteria, virus or fungus." [PMID:27543669] is_a: HP:0011897 ! Neutrophilia property_value: http://purl.org/dc/elements/1.1/date 2018-10-19T19:22:50Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410258 name: Neutrophilia in absence of infection def: "An increased number of neutrophils circulating in the blood in the absence of an infection. Factors contributing to neutrophilia could include inflammation or congenital disorders." [PMID:24050624] is_a: HP:0011897 ! Neutrophilia property_value: http://purl.org/dc/elements/1.1/date 2018-10-19T19:23:14Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410259 name: Hepatopulmonary fusion def: "Fusion of the liver with the lung." [PMID:28196822] synonym: "Hepatic pulmonary fusion" EXACT [] is_a: HP:0410042 ! Abnormal liver morphology property_value: http://purl.org/dc/elements/1.1/date 2018-10-19T21:35:39Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410260 name: Asymmetrical gluteal crease def: "The presence of an asymmetrical gluteal crease, the horizontal crease formed by the inferior aspect of the buttocks and the posterior upper leg." [PMID:29701087] synonym: "Asymmetrical buttock crease" EXACT [] synonym: "Asymmetrical gluteal sulcus" EXACT [] synonym: "Asymmetrical horizontal gluteal crease" EXACT [] is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs property_value: http://purl.org/dc/elements/1.1/date 2018-10-19T21:42:53Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410261 name: Wide space between 4th and 5th toe def: "A widely spaced gap between the fourth toe and the fifth (pinky) toe." [] synonym: "Wide space between the 4th and 5th toe" EXACT [] is_a: HP:0010321 ! Abnormality of the 4th toe property_value: http://purl.org/dc/elements/1.1/date 2018-10-19T22:00:03Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410262 name: Lower cranial nerve dysfunction def: "A functional abnormality affecting the lower cranial nerves, which include the paired 9th (glossopharyngeal), 10th (vagal), 11th (accessory) and 12th (hypoglossal) cranial nerves." [PMID:26167022] synonym: "Abnormal lower cranial nerve function" EXACT [] is_a: HP:0031910 ! Abnormal cranial nerve physiology property_value: http://purl.org/dc/elements/1.1/date 2018-10-19T22:03:52Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410263 name: Brain imaging abnormality def: "An anomaly of metabolism or structure of the brain identified by imaging." [] synonym: "Abnormal brain imaging" EXACT [] is_a: HP:0012638 ! Abnormality of nervous system physiology property_value: http://purl.org/dc/elements/1.1/date 2018-10-19T22:17:24Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410264 name: Subglottic hemangioma def: "A hemangioma, a benign tumor of the vascular endothelial cells, located in the airway, typically below the vocal chords, that can cause severe obstruction of the airway." [PMID:30174006] synonym: "Airway hemangioma" EXACT [] is_a: HP:0001028 ! Hemangioma property_value: http://purl.org/dc/elements/1.1/date 2018-10-30T01:47:40Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410265 name: Supraglottic hemangioma def: "A hemangioma, a benign tumor of the vascular endothelial cells, located in the upper part of the larynx (voice box) including the epiglottis; the area above the vocal cords." [PMID:16866116] is_a: HP:0001028 ! Hemangioma property_value: http://purl.org/dc/elements/1.1/date 2018-10-30T01:49:01Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410266 name: Visceral hemangioma def: "A hemangioma arising from within visceral structures, the internal organs of the body." [https://doi.org/10.1016/j.epsc.2014.06.004] is_a: HP:0001028 ! Hemangioma property_value: http://purl.org/dc/elements/1.1/date 2018-10-30T01:56:12Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410267 name: Intestinal hemangioma def: "A hemangioma, a benign tumor of the vascular endothelial cells, located in the intestines, which includes the bowel." [https://orcid.org/0000-0001-5208-3432] synonym: "Bowel hemangioma" EXACT [] synonym: "Intestinal hemangioma" EXACT [] is_a: HP:0410266 ! Visceral hemangioma property_value: http://purl.org/dc/elements/1.1/date 2018-10-30T01:56:39Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410268 name: Spleen hemangioma def: "A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the spleen." [PMID:11307096] synonym: "Splenic hemangioma" EXACT [] is_a: HP:0001028 ! Hemangioma property_value: http://purl.org/dc/elements/1.1/date 2018-10-30T01:57:13Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410269 name: Labial hemangioma def: "A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the upper lip." [http://www.jpss.eu/index.php/current-issue/item/457-forty-four-cases-of-labial-hemangioma-therapeutic-management] is_a: HP:0001028 ! Hemangioma property_value: http://purl.org/dc/elements/1.1/date 2018-10-30T02:07:28Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410270 name: Esophageal hemangioma def: "A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the esophagus." [PMID:10626176] is_a: HP:0001028 ! Hemangioma property_value: http://purl.org/dc/elements/1.1/date 2018-10-30T02:10:29Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410271 name: Laryngeal hemangioma def: "A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the glottic or supraglottic regions." [PMID:28419860] synonym: "Throat hemangioma" EXACT [] is_a: HP:0001028 ! Hemangioma property_value: http://purl.org/dc/elements/1.1/date 2018-10-30T02:15:03Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410272 name: Vulvar hemangioma def: "A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the vulva." [PMID:29980161] is_a: HP:0001028 ! Hemangioma property_value: http://purl.org/dc/elements/1.1/date 2018-10-30T02:17:19Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410273 name: Retropharyngeal hemangioma def: "A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the retropharyngeal space, the portion of the peripharyngeal space that is located posterior to the pharynx." [PMID:26011223, UBERON:0035619] xref: NCIT:C3085 is_a: HP:0001028 ! Hemangioma property_value: http://purl.org/dc/elements/1.1/date 2018-10-30T02:17:49Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410274 name: Paraspinal hemangioma def: "A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the paraspinal muscular region, the muscles next to the spine." [http://ispub.com/IJOS/11/1/8101#] is_a: HP:0001028 ! Hemangioma property_value: http://purl.org/dc/elements/1.1/date 2018-10-30T02:21:30Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410275 name: Lumbosacral hemangioma def: "A spinal cord hemangioma located in the lumbosacral spine region." [PMID:25449217] synonym: "Lumbar/sacral hemangioma" EXACT [] is_a: HP:0001028 ! Hemangioma property_value: http://purl.org/dc/elements/1.1/date 2018-10-30T02:21:55Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410276 name: Supraumbilical raphe def: "An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button)." [https://www.chw.org/medical-care/birthmarks-and-vascular-anomalies-center/conditions/phace-syndrome/phace-syndrome-handbook/ventral-or-midline-abnormalities, PMID:24075092] synonym: "Midline supraumbilical raphe" EXACT [] is_a: HP:0000766 ! Abnormality of the sternum property_value: http://purl.org/dc/elements/1.1/date 2018-10-30T18:16:55Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410277 name: Sternal pit def: "A sternal pit is a small indentation or dimple in the skin overlying the sternum of the chest. In some cases, the skin defect can be linear, extending several inches over the sternum." [https://www.chw.org/medical-care/birthmarks-and-vascular-anomalies-center/conditions/phace-syndrome/phace-syndrome-handbook/ventral-or-midline-abnormalities] is_a: HP:0000766 ! Abnormality of the sternum property_value: http://purl.org/dc/elements/1.1/date 2018-10-30T18:23:42Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410278 name: Pituitary gland cyst def: "A fluid-filled sacs that develop on or near the pituitary gland." [https://www.chop.edu/conditions-diseases/pituitary-cysts] synonym: "Cyst of the pituitary gland" EXACT [] is_a: HP:0010576 ! Intracranial cystic lesion property_value: http://purl.org/dc/elements/1.1/date 2018-10-30T19:49:29Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410279 name: Atrophic pituitary gland def: "Partial or complete wasting (loss) of the pituitary gland." [DOI:10.1530/endoabs.44.EP82] synonym: "Atrophic pituitary" EXACT [] synonym: "Pituitary gland atrophy" EXACT [] is_a: HP:0012506 ! Small pituitary gland property_value: http://purl.org/dc/elements/1.1/date 2018-10-30T19:54:09Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410280 name: Pediatric onset def: "Onset of disease manifestations before adulthood, defined here as before the age of 16 years, but excluding neonatal or congenital onset." [ORCID:0000-0002-0843-4271] synonym: "Onset before adulthood" EXACT [] is_a: HP:0003674 ! Onset property_value: http://purl.org/dc/elements/1.1/date 2018-11-01T15:27:45Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410281 name: Dyspepsia def: "A heterogeneous group of symptoms that are localized in the epigastric region. Typical dyspeptic symptoms include postprandial fullness, early satiation, epigastric pain and epigastric burning, but other upper gastrointestinal symptoms such as nausea, belching or abdominal bloating often occur." [PMID:23399526] synonym: "Indigestion" EXACT layperson [ORCID:0000-0001-6439-2224] is_a: HP:0002027 ! Abdominal pain property_value: http://purl.org/dc/elements/1.1/date 2018-11-06T23:08:26Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410282 name: Abnormal circulating amylase level def: "A deviation from the normal concentration of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands." [NCIT:C16284] is_a: HP:0010876 ! Abnormal circulating protein level property_value: http://purl.org/dc/elements/1.1/date 2018-12-04T01:35:56Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410283 name: Positive blood acetaminophen test def: "Detection of acetaminophen in the blood." [] synonym: "Positive blood paracetamol test" EXACT [] synonym: "Positive blood Tylenol test" EXACT [] is_a: HP:0410172 ! Blood xenobiotic property_value: http://purl.org/dc/elements/1.1/date 2018-12-04T01:44:23Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410284 name: Positive norpropoxyphene blood test def: "Detection of norpropoxyphene in the blood, a major metabolite of the opioid analgesic drug dextropropoxyphene." [PubChem:18804] is_a: HP:0410172 ! Blood xenobiotic property_value: http://purl.org/dc/elements/1.1/date 2018-12-04T02:17:31Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410285 name: Positive meconium methadone test def: "Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in meconium." [] is_a: HP:0500098 ! Meconium xenobiotic property_value: http://purl.org/dc/elements/1.1/date 2018-12-04T02:02:19Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410286 name: Positive blood molindone test def: "Detection of molindone in the blood, an antipyschotic used for treatment of schizophrenia." [PubChem:23897] synonym: "Positive blood Moban test" EXACT [] is_a: HP:0410172 ! Blood xenobiotic property_value: http://purl.org/dc/elements/1.1/date 2018-12-04T02:07:58Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410287 name: Intrathoracic hemangioma def: "A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the intrathoracic or chest region." [] synonym: "Chest hemangioma" EXACT [] is_a: HP:0001028 ! Hemangioma property_value: http://purl.org/dc/elements/1.1/date 2019-01-09T20:07:18Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410288 name: Hyperamylasemia def: "Increased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands." [] synonym: "Increased circulating amylase level" EXACT [] is_a: HP:0410282 ! Abnormal circulating amylase level property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T20:07:47Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410289 name: Hypoamylasemia def: "Decreased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands." [] synonym: "Decreased circulating amylase level" EXACT [] is_a: HP:0410282 ! Abnormal circulating amylase level property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T20:07:56Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410290 name: Positive urine norpropoxyphene test def: "Detection of norpropoxyphene in urine." [] is_a: HP:0031840 ! Urine xenobiotic property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T20:20:19Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410291 name: Negativism def: "Opposing or not responding to instructions or external stimuli." [PMID:28754582, PMID:30262571] is_a: HP:0000708 ! Behavioral abnormality property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T20:32:25Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410292 name: Abnormal isohemagglutinin level def: "An abnormal level of isohemagglutinin in the blood. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person)." [] synonym: "Abnormal level of natural antibody to blood group agents" EXACT [] is_a: HP:0012475 ! Decreased circulating level of specific antibody property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T21:28:37Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410293 name: Absent isohemagglutinin level def: "Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person)." [PMID:25309532] synonym: "Absent natural antibody to blood group agents" EXACT [] is_a: HP:0410292 ! Abnormal isohemagglutinin level property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T21:29:11Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410294 name: Decreased specific antibody response to protein vaccine def: "A reduced ability to synthesize postvaccination antibodies against proteins in vaccines, as measured by antibody titer determination following vaccination." [PMID:26018535] is_a: HP:0032140 ! Decreased specific antibody response to vaccination property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T22:02:23Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410295 name: Complete or near-complete absence of specific antibody response to tetanus vaccine def: "The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination." [] is_a: HP:0410294 ! Decreased specific antibody response to protein vaccine property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T22:02:31Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410296 name: Complete or near-complete absence of specific antibody response to hepatitis B vaccine def: "The inability to synthesize postvaccination antibodies against a hepatisis B antigen, as measured by antibody titer determination following vaccination." [] is_a: HP:0410294 ! Decreased specific antibody response to protein vaccine property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T22:02:42Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410297 name: Partial absence of specific antibody response to tetanus vaccine def: "A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination." [] is_a: HP:0410294 ! Decreased specific antibody response to protein vaccine property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T22:02:45Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410298 name: Partial absence of specific antibody response to hepatitis B vaccine def: "A reduced ability to synthesize postvaccination antibodies against a hepatitis B antigen, as measured by antibody titer determination following vaccination." [] is_a: HP:0410294 ! Decreased specific antibody response to protein vaccine property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T22:02:55Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410299 name: Decreased specific antibody response to polysaccharide vaccine def: "A reduced ability to synthesize postvaccination antibodies against polysaccharides in vaccines, as measured by antibody titer determination following vaccination." [PMID:26018535] is_a: HP:0032140 ! Decreased specific antibody response to vaccination property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T22:03:17Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410300 name: Complete or near-complete absence of specific antibody response to pneumococcus vaccine def: "The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination." [] is_a: HP:0410299 ! Decreased specific antibody response to polysaccharide vaccine property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T22:03:29Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410301 name: Partial absence of specific antibody response to pneumococcus vaccine def: "A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination." [] is_a: HP:0410299 ! Decreased specific antibody response to polysaccharide vaccine property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T22:03:40Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410302 name: Decreased specific antibody response to protein-conjugated polysaccharide vaccine def: "A reduced ability to synthesize postvaccination antibodies against protein-conjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination." [PMID:26018535] is_a: HP:0032140 ! Decreased specific antibody response to vaccination property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T22:04:00Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410303 name: Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine def: "The inability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination." [] is_a: HP:0410302 ! Decreased specific antibody response to protein-conjugated polysaccharide vaccine property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T22:04:07Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410304 name: Complete or near-complete absence of specific antibody response to meningococcus vaccine def: "The inability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination." [] is_a: HP:0410302 ! Decreased specific antibody response to protein-conjugated polysaccharide vaccine property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T22:04:12Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410305 name: Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine def: "A reduced ability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination." [] is_a: HP:0410302 ! Decreased specific antibody response to protein-conjugated polysaccharide vaccine property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T22:04:21Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410306 name: Partial absence of specific antibody response to meningococcus vaccine def: "A reduced ability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination." [] is_a: HP:0410302 ! Decreased specific antibody response to protein-conjugated polysaccharide vaccine property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T22:04:31Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410307 name: Positive stool methadone test def: "Detection of methadone and its metabolites in the stool." [] is_a: HP:0500097 ! Stool xenobiotic property_value: http://purl.org/dc/elements/1.1/date 2019-01-28T23:27:34Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410308 name: Decreased specific antibody response to infection def: "A reduced ability to synthesize antibodies against antigens from an infectious agent or pathogen (such as bacteria, viruses, parasites, etc.), as measured by antibody titer determination following infection." [] is_a: HP:0012475 ! Decreased circulating level of specific antibody property_value: http://purl.org/dc/elements/1.1/date 2019-01-30T19:50:11Z xsd:dateTime created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410309 name: Alpha-aminoadipic aciduria def: "A increased concentration of alpha-aminoadipic acid in the urine." [https://orcid.org/0000-0002-8169-9049, PMID:117247] synonym: "2-aminoadipic aciduria" EXACT [] is_a: HP:0003355 ! Aminoaciduria created_by: https://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410310 name: Abnormality of neutrophil morphology in CSF def: "An abnormal form or size of neutrophils in the cerebrospinal fluid." [https://orcid.org/0000-0002-8169-9049] synonym: "Abnormality of neutrophil morphology in cerebrospinal fluid" EXACT [] is_a: HP:0002921 ! Abnormality of the cerebrospinal fluid created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410311 name: Hyposegmentation of neutrophil nuclei in CSF def: "Hyposegmented (hypolobulated) or bilobed neutrophil nuclei in the cerebrospinal fluid." [https://orcid.org/0000-0002-8169-9049] synonym: "Hyposegmentation of neutrophil nuclei in cerebrospinal fluid" EXACT [] is_a: HP:0410310 ! Abnormality of neutrophil morphology in CSF created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410312 name: Hypersegmentation of neutrophil nuclei in CSF def: "An excessive division of the lobes of the nucleus of a neutrophil in the cerebrospinal fluid." [https://orcid.org/0000-0002-8169-9049] synonym: "Hypersegmentation of neutrophil nuclei in cerebrospinal fluid" EXACT [] is_a: HP:0410310 ! Abnormality of neutrophil morphology in CSF created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410313 name: Abnormal urinary 1-methylhistidine concentration def: "Abnormal concentration of 1-methylhistidine in the urine." [https://orcid.org/0000-0002-8169-9049] is_a: HP:0003110 ! Abnormality of urine homeostasis created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410314 name: Decreased urinary 1-methylhistidine def: "Decreased concentration of 1-methylhistidine in the urine." [https://orcid.org/0000-0002-8169-9049] is_a: HP:0410313 ! Abnormal urinary 1-methylhistidine concentration created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410315 name: Increased urinary 1-methylhistidine def: "Increased concentration of 1-methylhistidine in the urine." [https://orcid.org/0000-0002-8169-9049] synonym: "1-Methylhistidinuria" EXACT [] is_a: HP:0410313 ! Abnormal urinary 1-methylhistidine concentration created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410316 name: Abnormal urinary 3-methylhistidine concentration def: "Abnormal concentration of 3-methylhistidine in the urine." [https://orcid.org/0000-0002-8169-9049, PMID:6790901] is_a: HP:0003110 ! Abnormality of urine homeostasis created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410317 name: Increased urinary 3-methylhistidine def: "Increased concentration of 3-methylhistidine in the urine." [https://orcid.org/0000-0002-8169-9049, PMID:6790901] synonym: "3-Methylhistidinuria" EXACT [] is_a: HP:0410316 ! Abnormal urinary 3-methylhistidine concentration created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410318 name: Decreased urinary 3-methylhistidine def: "Decreased concentration of 3-methylhistidine in the urine." [https://orcid.org/0000-0002-8169-9049, PMID:6790901] is_a: HP:0410316 ! Abnormal urinary 3-methylhistidine concentration created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410319 name: Alpha-gal allergy def: "Hypersensitivity in form of an adverse immune reaction against alpha-gal." [] synonym: "Allergy to alpha-gal" EXACT [] synonym: "Alpha-gal allergy" EXACT layperson [] synonym: "IgE-mediated alpha-gal allergy" EXACT [] synonym: "Immunoglobulin E-mediated alpha-gal allergy" EXACT [] is_a: HP:0012393 ! Allergy created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410320 name: Animal protein allergy def: "Hypersensitivity in form of an adverse immune reaction against animal proteins." [] synonym: "Allergy to animal proteins" EXACT [] synonym: "Animal protein allergy" EXACT layperson [] synonym: "IgE-mediated animal protein allergy" EXACT [] synonym: "Immunoglobulin E-mediated animal protein allergy" EXACT [] is_a: HP:0012393 ! Allergy created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410321 name: Animal dander allergy def: "Hypersensitivity in form of an adverse immune reaction against animal dander." [] synonym: "Allergy to animal dander" EXACT [] synonym: "Animal dander allergy" EXACT layperson [] synonym: "IgE-mediated animal dander allergy" EXACT [] synonym: "Immunoglobulin E-mediated animal dander allergy" EXACT [] is_a: HP:0410320 ! Animal protein allergy created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410322 name: Bacteria allergy def: "Hypersensitivity in form of an adverse immune reaction against bacteria." [] synonym: "Allergy to bacteria" EXACT [] synonym: "Bacteria allergy" EXACT layperson [] synonym: "IgE-mediated bacteria allergy" EXACT [] synonym: "Immunoglobulin E-mediated bacteria allergy" EXACT [] is_a: HP:0012393 ! Allergy created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410323 name: Drug allergy def: "Hypersensitivity in form of an adverse immune reaction against drugs." [] synonym: "Allergy to drugs" EXACT [] synonym: "Drug allergy" EXACT layperson [] synonym: "IgE-mediated drug allergy" EXACT [] synonym: "Immunoglobulin E-mediated drug allergy" EXACT [] is_a: HP:0012393 ! Allergy created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410324 name: Dust mite allergy def: "Hypersensitivity in form of an adverse immune reaction against dust mites." [] synonym: "Allergy to dust mites" EXACT [] synonym: "Dust mite allergy" EXACT layperson [] synonym: "IgE-mediated dust mite allergy" EXACT [] synonym: "Immunoglobulin E-mediated dust mite allergy" EXACT [] is_a: HP:0012393 ! Allergy created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410325 name: House dust mite allergy def: "Hypersensitivity in form of an adverse immune reaction against house dust mites." [] synonym: "Allergy to house dust mites" EXACT [] synonym: "House dust mite allergy" EXACT layperson [] synonym: "IgE-mediated house dust mite allergy" EXACT [] synonym: "Immunoglobulin E-mediated house dust mite allergy" EXACT [] is_a: HP:0410324 ! Dust mite allergy created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410326 name: Feather allergy def: "Hypersensitivity in form of an adverse immune reaction against feathers." [] synonym: "Allergy to feathers" EXACT [] synonym: "Feather allergy" EXACT layperson [] synonym: "IgE-mediated feather allergy" EXACT [] synonym: "Immunoglobulin E-mediated feather allergy" EXACT [] is_a: HP:0012393 ! Allergy created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410327 name: Dairy allergy def: "Hypersensitivity in form of an adverse immune reaction against dairy." [] synonym: "Allergy to dairy" EXACT [] synonym: "Dairy allergy" EXACT layperson [] synonym: "IgE-mediated dairy allergy" EXACT [] synonym: "Immunoglobulin E-mediated dairy allergy" EXACT [] is_a: HP:0500093 ! Food allergy created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410328 name: Egg allergy def: "Hypersensitivity in form of an adverse immune reaction against eggs." [] synonym: "Allergy to eggs" EXACT [] synonym: "Egg allergy" EXACT layperson [] synonym: "IgE-mediated egg allergy" EXACT [] synonym: "Immunoglobulin E-mediated egg allergy" EXACT [] is_a: HP:0500093 ! Food allergy created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410329 name: Gluten allergy def: "Hypersensitivity in form of an adverse immune reaction against gluten." [] comment: A gluten allergy is usually distinct from gluten sensitivity or Celiac disease. synonym: "Allergy to gluten" EXACT [] synonym: "Gluten allergy" EXACT layperson [] synonym: "IgE-mediated gluten allergy" EXACT [] synonym: "Immunoglobulin E-mediated gluten allergy" EXACT [] is_a: HP:0500093 ! Food allergy created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410330 name: Meat allergen allergy def: "Hypersensitivity in form of an adverse immune reaction against allergens contained in meat products." [] synonym: "Allergy to meat allergens" EXACT [] synonym: "IgE-mediated meat allergen allergy" EXACT [] synonym: "Immunoglobulin E-mediated meat allergen allergy" EXACT [] synonym: "Meat allergen allergy" EXACT layperson [] synonym: "Meat allergy" EXACT layperson [] is_a: HP:0500093 ! Food allergy created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410331 name: Nut food product allergy def: "Hypersensitivity in form of an adverse immune reaction against nut food products." [] synonym: "Allergy to nut food products" EXACT [] synonym: "IgE-mediated nut food product allergy" EXACT [] synonym: "Immunoglobulin E-mediated nut food product allergy" EXACT [] synonym: "Nut allergy" EXACT layperson [] synonym: "Nut food product allergy" EXACT layperson [] is_a: HP:0410332 ! Plant based food allergy created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410332 name: Plant based food allergy def: "Hypersensitivity in form of an adverse immune reaction against plant based food allergens." [] synonym: "Allergy to plant based food allergens" EXACT [] synonym: "IgE-mediated plant based food allergen allergy" EXACT [] synonym: "Immunoglobulin E-mediated plant based food allergen allergy" EXACT [] synonym: "Plant based food allergy" EXACT layperson [] is_a: HP:0500093 ! Food allergy created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410333 name: Seafood allergy def: "Hypersensitivity in form of an adverse immune reaction against seafood." [] synonym: "Allergy to seafood" EXACT [] synonym: "IgE-mediated seafood allergy" EXACT [] synonym: "Immunoglobulin E-mediated seafood allergy" EXACT [] synonym: "Seafood allergy" EXACT layperson [] is_a: HP:0500093 ! Food allergy created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410334 name: Fungi allergy def: "Hypersensitivity in form of an adverse immune reaction against fungus." [] synonym: "Allergy to fungi" EXACT [] synonym: "Fungal allergy" EXACT layperson [] synonym: "Fungi allergy" EXACT layperson [] synonym: "Fungus allergy" EXACT layperson [] synonym: "IgE-mediated fungi allergy" EXACT [] synonym: "Immunoglobulin E-mediated fungi allergy" EXACT [] is_a: HP:0012393 ! Allergy created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410335 name: Insect allergy def: "Hypersensitivity in form of an adverse immune reaction against insects." [] synonym: "Allergy to insects" EXACT [] synonym: "IgE-mediated insect allergy" EXACT [] synonym: "Immunoglobulin E-mediated insect allergy" EXACT [] synonym: "Insect allergy" EXACT layperson [] is_a: HP:0012393 ! Allergy created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410336 name: Venom allergy def: "Hypersensitivity in form of an adverse immune reaction against insect venom." [] synonym: "Allergy to venom" EXACT [] synonym: "IgE-mediated venom allergy" EXACT [] synonym: "Immunoglobulin E-mediated venom allergy" EXACT [] synonym: "Venom allergy" EXACT layperson [] is_a: HP:0410335 ! Insect allergy created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410337 name: Parasite allergy def: "Hypersensitivity in form of an adverse immune reaction against parasites." [] synonym: "Allergy to parasites" EXACT [] synonym: "IgE-mediated parasite allergy" EXACT [] synonym: "Immunoglobulin E-mediated parasite allergy" EXACT [] synonym: "Parasite allergy" EXACT layperson [] is_a: HP:0012393 ! Allergy created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410338 name: Plant product allergy def: "Hypersensitivity in form of an adverse immune reaction against plant products." [] synonym: "Allergy to plant products" EXACT [] synonym: "IgE-mediated plant product allergy" EXACT [] synonym: "Immunoglobulin E-mediated plant product allergy" EXACT [] synonym: "Plant product allergy" EXACT layperson [] is_a: HP:0012393 ! Allergy created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410339 name: Insect bite allergy def: "Hypersensitivity in form of an adverse immune reaction against insect bites." [] synonym: "Allergy to insect bites" EXACT [] synonym: "IgE-mediated insect bite allergy" EXACT [] synonym: "Immunoglobulin E-mediated insect bite allergy" EXACT [] synonym: "Insect bite allergy" EXACT layperson [] is_a: HP:0410335 ! Insect allergy created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410340 name: Focal epithelial hyperplasia of oral mucosa def: "The occurrence of multiple or unique whitish or normal in color small papules or nodules in oral cavity, especially on labial and buccal mucosa, lower lip and tongue, and less often on the upper lip, gingiva and palate." [PMID:23204755] synonym: "Focal epithelial hyperplasia of the lining of mouth" EXACT [] synonym: "Oral mucosa epithelial hyperplasia" EXACT [] is_a: HP:0011830 ! Abnormal oral mucosa morphology created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410341 name: Abnormal circulating heparan sulfate level def: "An abnormal level of heparan sulfate in the blood." [https://orcid.org/0000-0001-9969-8610] synonym: "Abnormality of the concentration of heparan sulfate in the blood" EXACT [] is_a: HP:0011013 ! Abnormal circulating carbohydrate concentration created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410342 name: Increased circulating heparan sulfate level def: "An abnormal increase in the concentration of heparan sulfate in the blood." [https://orcid.org/0000-0001-9969-8610, PMID:9692391] synonym: "Increased blood heparan sulfate concentration" EXACT [] is_a: HP:0410341 ! Abnormal circulating heparan sulfate level created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410343 name: Decreased circulating heparan sulfate level def: "An abnormal decrease in the concentration of heparan sulfate in the blood." [https://orcid.org/0000-0001-9969-8610, PMID:23514715] synonym: "Decreased blood heparan sulfate concentration" EXACT [] is_a: HP:0410341 ! Abnormal circulating heparan sulfate level created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410344 name: Shortened O-fucosylated glycan on properdin def: "Decreased length of O-fucosylated glycans present on properdin." [https://orcid.org/0000-0001-9969-8610, PMID:18199743] synonym: "Presence of terminal O-fucose glycans on properdin" EXACT [] is_a: HP:0012359 ! Abnormal fucosylation of O-linked protein glycosylation created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410345 name: Increased urinary polyhexose def: "An abnormal increase in the concentration of polyhexose in the urine." [https://orcid.org/0000-0001-9969-8610, PMID:23676310] synonym: "Increased polyhexose concentration in urine" EXACT [] is_a: HP:0010471 ! Oligosacchariduria created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410346 name: Increased urinary galactosylated oligosaccharide def: "An abnormal increase in the concentration of galactosylated oligosaccharides in urine." [https://orcid.org/0000-0001-9969-8610, PMID:23676310] synonym: "Increased concentration of galactosylated oligosaccharides in urine" EXACT [] is_a: HP:0010471 ! Oligosacchariduria created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410347 name: Increased urinary high-mannose-type oligosaccharide def: "An abnormal increase in the concentration of high-mannose-type oligosaccharides in the urine." [https://orcid.org/0000-0001-9969-8610, PMID:23676310] synonym: "Increased concentration of high-mannose-type oligosaccharides in urine" EXACT [] is_a: HP:0010471 ! Oligosacchariduria created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410348 name: Increased urinary multiantennary sialylated oligosaccharide def: "An abnormal increase in the concentration of multiantennary sialylated oligosaccharides in the urine." [https://orcid.org/0000-0001-9969-8610, PMID:23676310] synonym: "Increase concentration of multiantennary sialylated oligosaccharides in urine" EXACT [] is_a: HP:0010471 ! Oligosacchariduria created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410349 name: Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase activity def: "An abnormal decrease in glycosyltransferase O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase enzymatic activity." [https://orcid.org/0000-0001-9969-8610, PMID:16385447] is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410350 name: Increased urinary fucosylated oligosaccharide def: "An abnormal increase in the concentrationl of small fucosylated oligosaccharides in the urine." [https://orcid.org/0000-0001-9969-8610, PMID:25251875] synonym: "Increased concentration of fucosylated oligosaccharides in urine" EXACT [] is_a: HP:0010471 ! Oligosacchariduria created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410351 name: Abnormal complex N-glycan level def: "An abnormal concentration of complex N-glycans on glycoproteins." [https://orcid.org/0000-0001-9969-8610] synonym: "Abnormal concentration of complex N-glycans on glycoproteins" EXACT [] is_a: HP:0012347 ! Abnormal protein N-linked glycosylation created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410352 name: Increased complex N-glycan level def: "An abnormal increase in the concentration of complex N-glycans on glycoproteins." [https://orcid.org/0000-0001-9969-8610, PMID:24026681] synonym: "Increased concentration of complex N-glycans on glycoproteins" EXACT [] is_a: HP:0410351 ! Abnormal complex N-glycan level created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410353 name: Decreased complex N-glycan level def: "An abnormal decrease in the concentration of complex N-glycans on glycoproteins." [https://orcid.org/0000-0001-9969-8610, PMID:21385794] synonym: "Increased truncated complex N-glycans on glycoproteins" EXACT [] is_a: HP:0410351 ! Abnormal complex N-glycan level created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410354 name: Increased sialylated N-glycan level def: "An abnormal increase in the concentration of sialylated N-glycans on glycoproteins." [https://orcid.org/0000-0001-9969-8610, PMID:24026681] synonym: "Increased concentration of sialylated N-glycans on glycoproteins" EXACT [] is_a: HP:0012349 ! Abnormal sialylation of N-linked protein glycosylation created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410355 name: Decreased sialylated N-glycan level def: "An abnormal decrease in the concentration of sialylated N-glycans on glycoproteins." [https://orcid.org/0000-0001-9969-8610, PMID:23430903] synonym: "Decreased concentration of sialylated N-glycans on glycoproteins" EXACT [] is_a: HP:0012349 ! Abnormal sialylation of N-linked protein glycosylation created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410356 name: Abnormal high-mannose N-glycan level def: "An abnormal concentration of high-mannose N-glycans on glycoproteins." [https://orcid.org/0000-0001-9969-8610] synonym: "Abnormal high-mannose N-glycans on glycoprotein concentration" EXACT [] is_a: HP:0012347 ! Abnormal protein N-linked glycosylation created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410357 name: Increased high-mannose N-glycan level def: "An abnormal increase in the concentration of high-mannose N-glycans on glycoproteins." [https://orcid.org/0000-0001-9969-8610, PMID:23928051] synonym: "Increased high-mannose N-glycans on glycoprotein concentration" EXACT [] is_a: HP:0410356 ! Abnormal high-mannose N-glycan level created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410358 name: Decreased high-mannose N-glycan level synonym: "An abnormal decrease in the concentration of high-mannose N-glycans on glycoproteins." EXACT [https://orcid.org/0000-0001-9969-8610, PMID:24026681] synonym: "Decreased high-mannose N-glycans on glycoprotein concentration" EXACT [] is_a: HP:0410356 ! Abnormal high-mannose N-glycan level created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410359 name: Abnormal core 1 O-glycan level def: "An abnormal in the concentration of core 1 O-glycans on glycoproteins." [https://orcid.org/0000-0001-9969-8610] synonym: "Abnormal concentration of T-antigen" EXACT [] is_a: HP:0012358 ! Abnormal protein O-linked glycosylation created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410360 name: Increased core 1 O-glycan level def: "An abnormal increase in the concentration of core 1 O-glycans on glycoproteins." [https://orcid.org/0000-0001-9969-8610, PMID:14578315] synonym: "Increased T-antigen concentration" EXACT [] is_a: HP:0410359 ! Abnormal core 1 O-glycan level created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410361 name: Decreased core 1 O-glycan level def: "An abnormal decrease in the concentration of core 1 O-glycans on glycoproteins." [https://orcid.org/0000-0001-9969-8610, PMID:24026681] synonym: "Decreased T-antigen concentration" EXACT [] is_a: HP:0410359 ! Abnormal core 1 O-glycan level created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410363 name: Increased monosialylated core 1 O-glycan level def: "An abnormal increase in the concentration of monosialylated core 1 O-glycans on glycoproteins." [https://orcid.org/0000-0001-9969-8610, PMID:25142811] synonym: "Increased sialyl T-antigen concentration" EXACT [] is_a: HP:0012362 ! Abnormal sialylation of O-linked protein glycosylation created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410364 name: Decreased monosialylated core 1 O-glycan level def: "An abnormal decrease in the concentration of monosialylated core 1 O-glycans on glycoproteins." [https://orcid.org/0000-0001-9969-8610, PMID:24026681] synonym: "Decreased sialyl T-antigen concentration" EXACT [] is_a: HP:0012362 ! Abnormal sialylation of O-linked protein glycosylation created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410365 name: Increased disialylated core 1 O-glycan level def: "An abnormal increase in the concentration of disialylated core 1 O-glycans on glycoproteins." [https://orcid.org/0000-0001-9969-8610, PMID:24026681] synonym: "Increased disialyl T-antigen concentration" EXACT [] is_a: HP:0012362 ! Abnormal sialylation of O-linked protein glycosylation created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410366 name: Increased globoside Gb4 level def: "An abnormal increase in the concentration of globoside Gb4." [https://orcid.org/0000-0001-9969-8610, PMID:24026681] synonym: "Increased globoside Gb4 concentration" EXACT [] is_a: HP:0004343 ! Abnormality of glycosphingolipid metabolism created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410368 name: Increased globoside Gb3 level def: "An abnormal increase in the concentration of glycolipid globoside Gb3." [https://orcid.org/0000-0001-9969-8610, PMID:24026681] synonym: "Increased globoside Gb3 concentration" EXACT [] is_a: HP:0004343 ! Abnormality of glycosphingolipid metabolism created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410370 name: Absence of ganglioside GM3 def: "The absence of ganglioside GM3." [https://orcid.org/0000-0001-9969-8610, PMID:24026681] is_a: HP:0004343 ! Abnormality of glycosphingolipid metabolism created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410372 name: Increased Tn-antigen level def: "An abnormal increase in the concentration of Tn antigen on glycoproteins." [https://orcid.org/0000-0001-9969-8610, PMID:16251947] synonym: "Increased O-GalNac on glycoprotein concentration" EXACT [] is_a: HP:0012358 ! Abnormal protein O-linked glycosylation created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410373 name: Abnormal proportion of naive CD4 T cells def: "Any abnormality in the proportion of naive CD4 T cells relative to the total number of T cells." [PMID:22474485] synonym: "Abnormal proportion of CD4+CD45RA+ cells" EXACT [] is_a: HP:0031396 ! Abnormal proportion of naive T cells created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410374 name: Abnormal proportion of naive CD8 T cells def: "Any abnormality in the proportion of naive CD8 T cells relative to the total number of T cells." [PMID:26700072] is_a: HP:0031396 ! Abnormal proportion of naive T cells created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410375 name: Elevated proportion of naive CD4 T cells comment: An abnormally increased proportion of naive CD4 T cells relative to the total number of T cells. {xref="PMID:22474485"} synonym: "Increased proportion of CD4+CD45RA+ cells" EXACT [] is_a: HP:0031398 ! Elevated proportion of naive T cells created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410376 name: Elevated proportion of naive CD8 T cells def: "An abnormally increased proportion of naive CD8 T cells relative to the total number of T cells." [PMID:26700072] is_a: HP:0031398 ! Elevated proportion of naive T cells created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410377 name: Reduced proportion of naive CD8 T cells def: "An abnormally reduced proportion of naive CD8 T cells relative to the total number of T cells." [PMID:26700072] is_a: HP:0031397 ! Reduced proportion of naive T cells created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410378 name: Reduced proportion of naive CD4 T cells def: "An abnormally reduced proportion of naive CD4 T cells relative to the total number of T cells." [PMID:22474485] synonym: "Decreased proportion of CD4+CD45RA+ cells" EXACT [] is_a: HP:0031397 ! Reduced proportion of naive T cells created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410379 name: Abnormal proportion of CD4-positive, alpha-beta memory T cells def: "An abnormal proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high." [CL:0000897] is_a: HP:0032182 ! Abnormal proportion of memory T cells created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410380 name: Abnormal proportion of CD8-positive, alpha-beta memory T cells def: "An abnormal proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high." [PMID:20146720] is_a: HP:0032182 ! Abnormal proportion of memory T cells created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410381 name: Abnormal proportion of central memory CD4-positive, alpha-beta T cells def: "An abnormal proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative." [PMID:22343568] is_a: HP:0410379 ! Abnormal proportion of CD4-positive, alpha-beta memory T cells created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410382 name: Abnormal proportion of effector memory CD4-positive, alpha-beta T cells def: "An abnormal proportion of effector memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative." [PMID:22343568] is_a: HP:0410379 ! Abnormal proportion of CD4-positive, alpha-beta memory T cells created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410383 name: Abnormal proportion of effector memory CD8-positive, alpha-beta T cell def: "An abnormal proportion of effector memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative." [PMID:20146720, PMID:22343568] is_a: HP:0410380 ! Abnormal proportion of CD8-positive, alpha-beta memory T cells created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410384 name: Abnormal proportion of central memory CD8-positive, alpha-beta T cell def: "An abnormal proportion of central memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative." [PMID:20146720, PMID:22343568] is_a: HP:0410380 ! Abnormal proportion of CD8-positive, alpha-beta memory T cells created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410385 name: Decreased proportion of CD8-positive, alpha-beta memory T cells def: "Decreased proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high." [PMID:20146720] is_a: HP:0032183 ! Decreased proportion of memory T cells created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410386 name: Decreased proportion of CD4-positive, alpha-beta memory T cells def: "Decresaed proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high." [CL:0000897] is_a: HP:0032183 ! Decreased proportion of memory T cells created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410387 name: Decreased proportion of effector memory CD4-positive, alpha-beta T cells def: "A reduced proportion of effector memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative." [PMID:22343568] is_a: HP:0410386 ! Decreased proportion of CD4-positive, alpha-beta memory T cells created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410388 name: Decreased proportion of central memory CD4-positive, alpha-beta T cells def: "A reduced proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative." [PMID:22343568] is_a: HP:0410386 ! Decreased proportion of CD4-positive, alpha-beta memory T cells created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410389 name: Decreased proportion of central memory CD8-positive, alpha-beta T cells def: "A reduced proportion of CD8-positive, alpha-beta central memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative." [PMID:20146720, PMID:22343568] is_a: HP:0410385 ! Decreased proportion of CD8-positive, alpha-beta memory T cells created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410390 name: Decreased proportion of effector memory CD8-positive, alpha-beta T cells def: "A reduced proportion of CD8-positive, alpha-beta effector memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative." [PMID:20146720, PMID:22343568] is_a: HP:0410385 ! Decreased proportion of CD8-positive, alpha-beta memory T cells created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410391 name: Increased proportion of CD4-positive, alpha-beta memory T cells def: "An abnormally elevated proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high." [CL:0000897] is_a: HP:0032184 ! Increased proportion of memory T cells created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410392 name: Increased proportion of CD8-positive, alpha-beta memory T cells def: "An abnormally elevated proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high." [PMID:20146720] is_a: HP:0032184 ! Increased proportion of memory T cells created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410393 name: Increased proportion of central memory CD4-positive, alpha-beta T cells def: "An abnormally elevated proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative." [PMID:22343568] is_a: HP:0410391 ! Increased proportion of CD4-positive, alpha-beta memory T cells created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410394 name: Increased proportion of effector memory CD4-positive, alpha-beta T cells def: "An abnormally elevated proportion of effector memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative." [PMID:22343568] is_a: HP:0410391 ! Increased proportion of CD4-positive, alpha-beta memory T cells created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410395 name: Increased proportion of effector memory CD8-positive, alpha-beta T cells def: "An increased proportion of effector memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative." [PMID:20146720, PMID:22343568] is_a: HP:0410392 ! Increased proportion of CD8-positive, alpha-beta memory T cells created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410396 name: Increased proportion of central memory CD8-positive, alpha-beta T cells def: "An increased proportion of central memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative." [PMID:20146720, PMID:22343568] is_a: HP:0410392 ! Increased proportion of CD8-positive, alpha-beta memory T cells created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410397 name: Bronchiolectasis def: "Saccular dilatation of the terminal bronchioles." [ORCID:0000-0002-8169-9049, PMID:20037680] synonym: "Bronchiolectasia" EXACT [] is_a: HP:0025426 ! Abnormal bronchus morphology created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410399 name: Positive blood lead test def: "Detection of lead in the blood." [] synonym: "Increased blood lead level" EXACT [] is_a: HP:0410172 ! Blood xenobiotic created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410400 name: Absent sebaceous glands def: "Absence of the sebaceous gland, the holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts." [MP:0000647] synonym: "Absence of sebaceous glands" EXACT [] is_a: HP:0032226 ! Abnormal sebaceous gland morphology created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0410401 name: Worse in evening def: "Applies to a sign or symptom that is exacerbated in the evening as compared to the day." [https://orcid.org/0000-0002-0736-9199] is_a: HP:0012823 ! Clinical modifier created_by: http://orcid.org/0000-0001-5208-3432 [Term] id: HP:0430000 name: Abnormality of the frontal bone def: "An abnormality of the frontal bone." [GOC:MG] synonym: "Abnormal morphology of frontal bone" NARROW [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Abnormality of the bone of the forehead" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Anomaly of the frontal bone" NARROW [ORCID:0000-0001-5889-4463] synonym: "Deformity of the frontal bone" NARROW [ORCID:0000-0001-5889-4463] synonym: "Malformation of the frontal bone" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4021873 is_a: HP:0011821 ! Abnormality of facial skeleton [Term] id: HP:0430002 name: Abnormality of the lacrimal bone def: "An abnormality of the lacrimal bone." [GOC:MG] synonym: "Anomaly of the lacrimal bone" NARROW [ORCID:0000-0001-5889-4463] synonym: "Deformity of the lacrimal bone" NARROW [ORCID:0000-0001-5889-4463] synonym: "Malformation of the lacrimal bone" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4021872 is_a: HP:0011821 ! Abnormality of facial skeleton [Term] id: HP:0430003 name: Abnormality of the palatine bone def: "An abnormality of the palatine bone." [GOC:MG] synonym: "Anomaly of the palatine bone" NARROW [ORCID:0000-0001-5889-4463] synonym: "Deformity of the palatine bone" NARROW [ORCID:0000-0001-5889-4463] synonym: "Malformation of the palatine bone" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4021871 is_a: HP:0011821 ! Abnormality of facial skeleton [Term] id: HP:0430004 name: Frontomalar faciosynostosis xref: UMLS:C4021870 is_a: HP:0011821 ! Abnormality of facial skeleton [Term] id: HP:0430005 name: Abnormality of ethmoid bone def: "An abnormality of the ethmoid bone" [GOC:MG] synonym: "Anomaly of the ethmoid bone" NARROW [ORCID:0000-0001-5889-4463] synonym: "Deformity of the ethmoid bone" NARROW [ORCID:0000-0001-5889-4463] synonym: "Malformation of the ethmoid bone" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4021869 is_a: HP:0011821 ! Abnormality of facial skeleton [Term] id: HP:0430006 name: Ectopic cilia of eyelid def: "An eyelash that emerges from the underside (conjunctiva) of the upper or lower eyelid." [GOC:MG, http://www.eyecareforanimals.com/animal-eye-conditions/general/251-distichiasis-trichiasis-ectopic-cilia.html] xref: SNOMEDCT_US:95504004 xref: UMLS:C0521574 is_a: HP:0000499 ! Abnormal eyelash morphology [Term] id: HP:0430007 name: Symblepharon def: "A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball." [GOC:MG, http://en.wikipedia.org/wiki/Symblepharon] synonym: "Eyelid adhesion to globe of eye" EXACT [ORCID:0000-0001-5889-4463] synonym: "Eyelid stuck to eyeball" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:90216006 xref: UMLS:C0152454 is_a: HP:0000492 ! Abnormal eyelid morphology [Term] id: HP:0430008 name: Accessory eyelid def: "The presence of more than the normal number of eyelids." [GOC:MG] synonym: "Double eyelid" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Extra eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:24606006 xref: UMLS:C0266576 xref: UMLS:C4280275 is_a: HP:0000492 ! Abnormal eyelid morphology [Term] id: HP:0430009 name: Hypoplasia of eyelid def: "Developmental hypoplasia of the eyelid." [GOC:MG] synonym: "Decreased size of eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Short eyelid" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Small eyelid" BROAD layperson [ORCID:0000-0001-5889-4463] synonym: "Underdevelopment of eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:204203001 xref: UMLS:C0344499 xref: UMLS:C4280274 is_a: HP:0011226 ! Aplasia/Hypoplasia of the eyelid [Term] id: HP:0430010 name: Microblepharia def: "Abnormal shortness of the vertical dimensions of the eyelids." [http://medical-dictionary.thefreedictionary.com/microblepharia] synonym: "Abnormally small eyelid" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:94684003 xref: UMLS:C0685873 is_a: HP:0000492 ! Abnormal eyelid morphology [Term] id: HP:0430011 name: Defect of palpebral conjunctiva def: "An abnormality of the palpebral conjunctiva." [GOC:MG] xref: UMLS:C4021868 is_a: HP:0000502 ! Abnormal conjunctiva morphology [Term] id: HP:0430012 name: Incomplete ossification of palatine bone def: "Failure to complete ossification (maturation and calcification) of the palatine bone." [GOC:MG] synonym: "Incomplete calcification of palatine bone" NARROW [ORCID:0000-0001-5889-4463] synonym: "Incomplete formation of palatine bone" RELATED [ORCID:0000-0001-5889-4463] synonym: "Incomplete mineralization of palatine bone" NARROW [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:93595006 xref: UMLS:C0685213 is_a: HP:0430003 ! Abnormality of the palatine bone [Term] id: HP:0430013 name: Absent palatine bone ossification def: "Lack of formation of the palatine bone." [GOC:MG] synonym: "Absence of palatine bone calcification" NARROW [ORCID:0000-0001-5889-4463] synonym: "Absence of palatine bone formation" RELATED [ORCID:0000-0001-5889-4463] synonym: "Absence of palatine bone mineralization" NARROW [ORCID:0000-0001-5889-4463] xref: UMLS:C4021867 is_a: HP:0430003 ! Abnormality of the palatine bone [Term] id: HP:0430014 name: Abnormality of musculature of soft palate def: "An abnormality of one or more of the five muscles of the soft palate." [ORCID:0000-0001-5889-4463] synonym: "Abnormality of soft palate muscles" EXACT [] xref: UMLS:C4073196 is_a: HP:0003011 ! Abnormality of the musculature is_a: HP:0100736 ! Abnormal soft palate morphology [Term] id: HP:0430015 name: Abnormality of musculature of pharynx def: "An abnormality of any of the muscles of the pharynx." [ORCID:0000-0001-5889-4463] synonym: "Abnormality of muscles of the pharynx" EXACT [] synonym: "Abnormality of pharyngeal musculature" EXACT [] synonym: "Abnormality of pharynx musculature" EXACT [] xref: UMLS:C4073197 is_a: HP:0000600 ! Abnormality of the pharynx is_a: HP:0003011 ! Abnormality of the musculature [Term] id: HP:0430016 name: Abnormality of tensor veli palatini muscle def: "An abnormality of the tensor veli palatini muscle" [ORCID:0000-0001-5889-4463] xref: UMLS:C4073198 is_a: HP:0430014 ! Abnormality of musculature of soft palate [Term] id: HP:0430017 name: Abnormality of uvular muscle def: "An abnormality of the uvular muscle" [ORCID:0000-0001-5889-4463] synonym: "Abnormality of musculus uvulae" EXACT [] xref: UMLS:C4073199 is_a: HP:0000172 ! Abnormality of the uvula is_a: HP:0430014 ! Abnormality of musculature of soft palate [Term] id: HP:0430018 name: Abnormality of nasal musculature def: "An abnormality of the muscles of the structure of the nose." [ORCID:0000-0001-5889-4463] synonym: "Abnormality of muscle of nose" EXACT layperson [] synonym: "Abnormality of musculature of the nose" EXACT layperson [] synonym: "Abnormality of nasal musculature" EXACT layperson [] xref: UMLS:C4073200 is_a: HP:0000301 ! Abnormality of facial musculature [Term] id: HP:0430019 name: Abnormality of muscle of facial expression def: "An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression." [ORCID:0000-0001-5889-4463] synonym: "Abnormality of muscle of facial expression" EXACT layperson [] synonym: "Abnormality of musculature of facial expression" EXACT [] xref: UMLS:C4073201 is_a: HP:0000301 ! Abnormality of facial musculature [Term] id: HP:0430020 name: Abnormality of levator labii superioris alaeque nasi muscle def: "An abnormality of the levator labii superioris alaeque nasi muscle." [ORCID:0000-0001-5889-4463] xref: UMLS:C4073202 is_a: HP:0430019 ! Abnormality of muscle of facial expression [Term] id: HP:0430021 name: Abnormal common carotid artery morphology def: "An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery." [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the common carotid artery" EXACT layperson [] xref: UMLS:C4073203 is_a: HP:0005344 ! Abnormal carotid artery morphology [Term] id: HP:0430022 name: Abnormality of the sphenoid sinus def: "An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone." [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the sphenoidal sinus" EXACT [] xref: UMLS:C4073204 is_a: HP:0000245 ! Abnormality of the paranasal sinuses [Term] id: HP:0430023 name: Abnormality of the maxillary sinus def: "An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity." [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the antrum of Highmore" EXACT [] synonym: "Abnormality of the maxillary antrum" EXACT [] synonym: "Abnormality of the upper jaw sinus" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4073205 is_a: HP:0000245 ! Abnormality of the paranasal sinuses [Term] id: HP:0430024 name: Abnormality of external jugular vein def: "An abnormality of an external jugular vein of the neck." [ORCID:0000-0001-5889-4463] xref: UMLS:C4073206 is_a: HP:3000042 ! Abnormal jugular vein morphology [Term] id: HP:0430025 name: Bilateral facial palsy def: "Two-sided or bilateral weakness of the muscles of facial expression and eye closure." [ORCID:0000-0001-5889-4463] synonym: "Bilateral facial muscle paralysis" EXACT [ORCID:0000-0001-5889-4463] synonym: "Bilateral facial muscle weakness" EXACT [ORCID:0000-0001-5889-4463] synonym: "Bilateral facial paralysis" EXACT [ORCID:0000-0001-5889-4463] synonym: "Paralysis of both sides of the face" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Weakness of both sides of the face" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4073207 is_a: HP:0010628 ! Facial palsy [Term] id: HP:0430026 name: Abnormality of the shape of the midface def: "An abnormal morphology (form) of the midface or its components, the cheeks, maxilla, zygomatic bone, malar region, and infraorbital rims." [ORCID:0000-0001-5889-4463] synonym: "Abnormal morphology of the midface" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the shape of the midface" EXACT layperson [] synonym: "Dysmorphic midface" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4073208 is_a: HP:0000309 ! Abnormality of the midface is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0430028 name: Hyperplasia of the maxilla def: "Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla." [] synonym: "Big maxilla" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Big upper jaw" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Hyperplasia of upper jaw" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hypertrophy of maxilla" RELATED [ORCID:0000-0001-5889-4463] synonym: "Hypertrophy of upper jaw" RELATED [ORCID:0000-0001-5889-4463] synonym: "Increased projection of maxilla" NARROW [ORCID:0000-0001-5889-4463] synonym: "Increased projection of upper jaw" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Increased size of maxilla" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased size of upper jaw" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Large maxilla" EXACT [ORCID:0000-0001-5889-4463] synonym: "Large upper jaw" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Maxillary excess" EXACT [ORCID:0000-0001-5889-4463] synonym: "Maxillary hyperplasia" EXACT [ORCID:0000-0001-5889-4463] synonym: "Maxillary macrognathia" EXACT [ORCID:0000-0001-5889-4463] synonym: "Maxillary prognathia" RELATED [ORCID:0000-0001-5889-4463] synonym: "Maxillary prominence" EXACT [ORCID:0000-0001-5889-4463] synonym: "Prognathia of the upper jaw" RELATED [] synonym: "Prominent maxilla" EXACT [ORCID:0000-0001-5889-4463] synonym: "Prominent upper jaw" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Upper jaw bone excess" EXACT [ORCID:0000-0001-5889-4463] synonym: "Upper jaw excess" EXACT layperson [ORCID:0000-0001-5889-4463] xref: SNOMEDCT_US:28070007 xref: UMLS:C0266081 xref: UMLS:C2227090 xref: UMLS:C4073209 xref: UMLS:C4280272 xref: UMLS:C4280273 is_a: HP:0000326 ! Abnormality of the maxilla [Term] id: HP:0430029 name: Hyperplasia of the premaxilla def: "An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures." [ORCID:0000-0001-5889-4463] synonym: "Hyperplasia of the intermaxillary bone" EXACT [ORCID:0000-0001-5889-4463] synonym: "Hyperplasia of the primary palate bone" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased size of premaxilla" EXACT [ORCID:0000-0001-5889-4463] synonym: "Increased size of the primary palate bone" EXACT [ORCID:0000-0001-5889-4463] synonym: "Large premaxilla" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Large primary palate bone" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Premaxillary excess" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Primary palate bone excess" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4073210 is_a: HP:0010758 ! Abnormality of the premaxilla [Term] id: HP:0500001 name: Body odor def: "A perceived unpleasant smell given off by the body." [HPO:probinson] synonym: "BO" EXACT HP:0045077 [] synonym: "Body odor" EXACT layperson [] synonym: "Body odour" EXACT [] synonym: "Bromhidrosis" EXACT [http://emedicine.medscape.com/article/1072342-overview] synonym: "Bromidrosis" EXACT [http://emedicine.medscape.com/article/1072342-overview] synonym: "Osmidrosis" EXACT [http://emedicine.medscape.com/article/1072342-overview] is_a: HP:0025142 ! Constitutional symptom [Term] id: HP:0500005 name: Anal pain def: "Pain in and around the anus or rectum (perianal region)." [http://www.mayoclinic.org/symptoms/anal-pain/basics/definition/sym-20050918] synonym: "Anal pain" EXACT layperson [] synonym: "Rectal pain" EXACT layperson [] is_a: HP:0012531 ! Pain [Term] id: HP:0500006 name: Urethritis def: "Inflammation of the urethra." [PMID:26220178] comment: Urethritis is characterized by discharge, dysuria and/or urethral discomfort but may be asymptomatic. Common etiologies include gonococcal urethritis as well as infection by chlamydia trachomatis, mycoplasma genitalium, ureaplasma urealyticum, trichomonas vaginalis, anaerobes, herpes simplex virus, and adenovirus. is_a: HP:0000795 ! Abnormality of the urethra [Term] id: HP:0500007 name: Iris flocculi def: "Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris." [PMID:27843899, PMID:7575269] comment: Iris flocculi cause little, if any, visual impairment in most cases. However, they are occasionally associated with dissecting aortic aneurysm due to a shared mutation in smooth muscle that affects both the iris and the aorta. {xref="PMID:27843899"} is_a: HP:0000525 ! Abnormality iris morphology [Term] id: HP:0500008 name: Cornea verticillata def: "Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea." [HPO:probinson] comment: Cornea verticillata can be a feature of Fabry disease and can occur as an adverse effect of mediciations including amiodarone. {xref="HPO:probinson"} synonym: "Vortex keratopathy" EXACT [] is_a: HP:0000481 ! Abnormal cornea morphology [Term] id: HP:0500009 name: Dysplastic gangliocytoma of the cerebellum def: "It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum." [PMID:11073535] comment: Often associated with Cowden syndrome. {xref="PMID:11073535"} synonym: "LDD" RELATED HP:0045077 [] synonym: "Lhermitte-Duclos disease" RELATED [] is_a: HP:0001317 ! Abnormal cerebellum morphology [Term] id: HP:0500010 name: obsolete Increased cholesterol esters is_obsolete: true replaced_by: HP:0031211 [Term] id: HP:0500011 name: Moon facies def: "A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin." [HPO:probinson] comment: Moon facies can occur in persons treated with high-dose corticosteroids or with Cushing disease. synonym: "Moon face" EXACT layperson [] synonym: "Puffy face" EXACT layperson [] synonym: "Puffy facies" EXACT [] is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0500012 name: Abnormality of gonadotropin-releasing hormone level def: "A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone level secreted from the pituitary gland." [HPO:probinson] synonym: "Abnormality of GnRH level" EXACT HP:0045077 [] is_a: HP:0003117 ! Abnormal circulating hormone level [Term] id: HP:0500013 name: Lack of gonadotropin-releasing hormone pulsatility def: "Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion." [HPO:probinson] comment: The decapeptide gonadotropin-releasing hormone (GnRH) is the master hormone regulating reproduction. GnRH is released from some 1000 neurons within the hypothalamus in a pulsatile manner. Hypothalamic GnRH gene expression occurs intermittently (in a pulsatile fashion). The primary target of hypothalamic GnRH is the anterior pituitary gonadotrope, which responds to stimulation by increasing the synthesis and secretion of the gonadotropins luteinzing hormone (LH) and follicle stimulating hormone (FSH), which in turn regulate gonadal development and function. synonym: "Absence of GnRH pulsatility" EXACT [] is_a: HP:0500012 ! Abnormality of gonadotropin-releasing hormone level [Term] id: HP:0500014 name: obsolete Abnormal test result is_obsolete: true consider: HP:0000118 [Term] id: HP:0500015 name: Abnormal cardiac test def: "Abnormal test result of cardiovascular physiology." [] is_a: HP:0001626 ! Abnormality of the cardiovascular system property_value: http://purl.org/dc/elements/1.1/date 2017-05-12T16:23:33Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500016 name: Abnormal cardiac MRI def: "Abnormal results of a MRI for the heart." [] synonym: "Abnormal cardiac magnetic resonance imaging" EXACT [] synonym: "Abnormal heart MRI" EXACT [] is_a: HP:0500015 ! Abnormal cardiac test property_value: http://purl.org/dc/elements/1.1/date 2017-05-12T16:33:16Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500017 name: Abnormal cardiac catheterization def: "Abnormal results from the diagnostic tests resulting from cardiac catheterization." [] synonym: "Abnormal cardiac cath" EXACT HP:0045077 [] is_a: HP:0500015 ! Abnormal cardiac test property_value: http://purl.org/dc/elements/1.1/date 2017-05-12T16:36:51Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500018 name: Abnormal cardiac exercise stress test def: "Abnormal results of exercise on heart function." [] synonym: "Abnormal cardiac exercise test" EXACT [] synonym: "Abnormal exercise test" BROAD layperson [] synonym: "Abnormal treadmill test" EXACT layperson [] is_a: HP:0500015 ! Abnormal cardiac test property_value: http://purl.org/dc/elements/1.1/date 2017-05-12T16:41:01Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500019 name: Abnormal resting energy expenditure from metabolic cart test def: "Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2)." [http://emedicine.medscape.com/article/2009552-overview] synonym: "Abnormal metabolic cart test" EXACT [] is_a: HP:0500015 ! Abnormal cardiac test property_value: http://purl.org/dc/elements/1.1/date 2017-05-12T16:49:32Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500020 name: Abnormal cardiac biomarker test def: "Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes." [https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=167&contentid=cardiac_biomarkers] is_a: HP:0500015 ! Abnormal cardiac test property_value: http://purl.org/dc/elements/1.1/date 2017-05-12T16:54:55Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500021 name: Reduced brain gamma-aminobutyric acid level by MRS def: "An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS)." [ORCID:0000-0003-0169-8159, PMID:27388694] is_a: HP:0012705 ! Abnormal metabolic brain imaging by MRS property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T19:29:53Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500022 name: Abnormal serum dehydroepiandrosterone level def: "A deviation from the normal concentration of dehydroepiandrosterone in the circulation." [PMID:27979632] comment: Dehydroepiandrosterone (DHEA), which is produced in the adrenal glands and the gonads, represents the most abundant circulating steroid hormone. It is a metabolic intermediate in the biosynthesis of the androgen and estrogen sex steroids. synonym: "Abnormal serum androstenolone level" EXACT [] synonym: "Abnormal serum DHEA" EXACT HP:0045077 [] is_a: HP:0030347 ! Abnormal circulating androgen level property_value: http://purl.org/dc/elements/1.1/date 2017-05-18T19:38:52Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500023 name: Shoulder muscle aplasia def: "Absence of shoulder muscles." [] synonym: "Absent shoulder muscle" EXACT [] is_a: HP:0001464 ! Aplasia/Hypoplasia involving the shoulder musculature property_value: http://purl.org/dc/elements/1.1/date 2017-05-25T16:40:00Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500024 name: Aplasia of the musculature of the pelvis def: "Absence of the musculature of the pelvis." [] is_a: HP:0001471 ! Aplasia/Hypoplasia of the musculature of the pelvis property_value: http://purl.org/dc/elements/1.1/date 2017-05-25T16:51:46Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500026 name: Hypoplasia of the musculature of the pelvis def: "Underdevelopment of the musculature of the pelvis." [] is_a: HP:0001471 ! Aplasia/Hypoplasia of the musculature of the pelvis property_value: http://purl.org/dc/elements/1.1/date 2017-05-25T16:53:10Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500027 name: Aplastic colon def: "Congenital absence of the colon" [] synonym: "Absence of the colon" EXACT [] synonym: "Aplasia of the colon" EXACT [] is_a: HP:0100811 ! Aplasia/Hypoplasia of the colon property_value: http://purl.org/dc/elements/1.1/date 2017-05-29T17:10:13Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500028 name: Cotton wool plaques def: "Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes." [PMID:20460383] synonym: "CWPs" EXACT HP:0045077 [] is_a: HP:0100256 ! Senile plaques property_value: http://purl.org/dc/elements/1.1/date 2017-05-30T18:52:34Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500030 name: Abnormal hepatic glycogen storage def: "Change in normal glycogen storage content." [PMID:26835382] is_a: HP:0410042 ! Abnormal liver morphology property_value: http://purl.org/dc/elements/1.1/date 2017-06-01T16:35:52Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500031 name: Sclerosis of the carpal bones def: "An elevation in bone density in one or more carpal bones of the hand." [PMID:21120491] is_a: HP:0004054 ! Sclerosis of hand bone property_value: http://purl.org/dc/elements/1.1/contributor ORCID:0000-0003-0169-8159 xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-06-01T16:54:00Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500032 name: Abnormal neuron branching def: "Abnormality of the structure and branching of the dendrites of a neuron." [PMID:20404840] synonym: "Aberrant neuronal branching" EXACT [] synonym: "Abnormal neuronal branching" EXACT [] is_a: HP:0012757 ! Abnormal neuron morphology property_value: http://purl.org/dc/elements/1.1/contributor ORCID:0000-0003-0169-8159 xsd:string property_value: http://purl.org/dc/elements/1.1/date 2017-06-07T17:35:08Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500033 name: Abnormal natural killer subset distribution def: "Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells." [] is_a: HP:0040089 ! Abnormal natural killer cell count property_value: http://purl.org/dc/elements/1.1/date 2018-01-08T19:18:59Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500034 name: Nasolacrimal sac obstruction def: "Blockage of the nasolacrimal sac." [PMID:17203310] is_a: HP:3000066 ! Abnormal lacrimal sac morphology property_value: http://purl.org/dc/elements/1.1/date 2018-01-31T16:35:58Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500035 name: Nasolacrimal sac granuloma def: "A mass of granulation tissue in response to chronic dacryocystitis as polypoid formations or they follow accidental injury, from probing and as a reaction to retained foreign bodies in the sac." [PMID:13434546] is_a: HP:0500034 ! Nasolacrimal sac obstruction property_value: http://purl.org/dc/elements/1.1/date 2018-01-31T16:48:25Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500036 name: Nasolacrimal sac papilloma def: "Benign tumor of the nasolacrimal sac." [PMID:4352147] is_a: HP:0500035 ! Nasolacrimal sac granuloma property_value: http://purl.org/dc/elements/1.1/date 2018-01-31T16:58:13Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500037 name: Nasolacrimal sac epithelial papillary carcinoma def: "The malignant epithelial neoplasm with papillary growths in the nasolacrimal sac." [PMID:16253035] is_a: HP:3000066 ! Abnormal lacrimal sac morphology property_value: http://purl.org/dc/elements/1.1/date 2018-01-31T17:14:14Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500039 name: Conjunctival cicatrization def: "An abnormality of the conjuctiva and ocular surface caused by conjunctival inflammation and associated with scarring." [ORCID:0000-0003-0986-4123] synonym: "Cicatricial conjunctivitis" EXACT [] synonym: "Cicatrizating conjunctivitis" EXACT [] synonym: "Conjunctival cicatricial conjunctivitis" EXACT [] is_a: HP:0030947 ! Conjunctival follicles property_value: http://purl.org/dc/elements/1.1/date 2018-02-02T14:47:58Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500040 name: Dermolipoma of the conjunctiva def: "A benign tumor composed of adipose tissue and dense connective tissue usually located near the temporal fornix." [PMID:25586714] synonym: "Conjunctival lipodermoid" EXACT [] is_a: HP:0500039 ! Conjunctival cicatrization property_value: http://purl.org/dc/elements/1.1/date 2018-02-02T15:28:59Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500041 name: Myopic astigmatism def: "A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest." [https://www.aoa.org/] is_a: HP:0000483 ! Astigmatism property_value: http://purl.org/dc/elements/1.1/date 2018-02-02T15:53:24Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500042 name: Latent hypermetropia def: "A term to describe when farsightedness is masked when the accommodative muscles are used to increase the focusing power of the eye." [] synonym: "Latent hyperopia" EXACT [] is_a: HP:0008499 ! High hypermetropia property_value: http://purl.org/dc/elements/1.1/date 2018-02-02T18:41:23Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500043 name: Eyelid retraction def: "With the eyes in primary position, the sclera is visible above the superior corneal limbus." [https://www.aao.org/bcscsnippetdetail.aspx?id=03ad3eb3-3445-4be2-9470-2c4845169b75, PMID:8719687] is_a: HP:0000492 ! Abnormal eyelid morphology property_value: http://purl.org/dc/elements/1.1/date 2018-02-05T16:22:49Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500044 name: Upper eyelid retraction def: "An elevation of the eyelid above the normal level in the primary position." [PMID:7735674] is_a: HP:0500043 ! Eyelid retraction property_value: http://purl.org/dc/elements/1.1/date 2018-02-05T16:39:46Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500045 name: Collier's sign def: "A unilateral or bilateral eyelid retraction due to midbrain lesions." [PMID:17323781] is_a: HP:0500044 ! Upper eyelid retraction property_value: http://purl.org/dc/elements/1.1/date 2018-02-05T16:48:13Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500046 name: Seborrhoeic blepharitis def: "Inflamation of the eyelid due to overactivity of the sebaceous gland." [PMID:10777824] comment: There is some suggestion that yeast bacterial strain called Malassezia furfur may cause seborrhoeic dermatitis. This yeast bacterial strain thrives in the oil of human skin especially in adults. {xref="PMID:10777824"} is_a: HP:0025610 ! Posterior blepharitis property_value: http://purl.org/dc/elements/1.1/date 2018-02-05T17:03:04Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500047 name: Nasolacrimal sac lymphoma def: "A type of lymphoma that involves the nasolacrimal sac." [ORCID:0000-0003-0986-4123, PMID:9392338] is_a: HP:3000066 ! Abnormal lacrimal sac morphology property_value: http://purl.org/dc/elements/1.1/date 2018-02-12T18:31:38Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500048 name: Delayed canalization of nasolacrimal duct def: "A very common condition in which the extreme end of the nasolacrimal duct underneath the inferior turbinate fails to complete its canalization in the newborn period." [PMID:11222337] is_a: HP:0000579 ! Nasolacrimal duct obstruction property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T15:38:47Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500049 name: Retinopathy of prematurity def: "An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness." [ISBN:978-3-319-52190-9, PMID:16009843] is_a: HP:0000488 ! Retinopathy property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T18:14:43Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500050 name: Retinopathy of prematurity stage 1 def: "The retinal vessels stop and then a linear flat white line is present that usually runs the circumference of the vascular retina." [ISBN:978-3-319-52190-9, PMID:16009843] synonym: "ROP stage 1" EXACT HP:0045077 [] is_a: HP:0500049 ! Retinopathy of prematurity property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T18:27:23Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500051 name: Retinopathy of prematurity stage 2 def: "The accumulating neovascularization thickens and manifests as a linear bump. The neovascularization remains along the surface of the retina and does not extend off the retina into the cortical vitreous." [ISBN:978-3-319-52190-9] synonym: "ROP stage 2" EXACT HP:0045077 [] is_a: HP:0500049 ! Retinopathy of prematurity property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T18:30:02Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500052 name: Retinopathy of prematurity stage 3 def: "The neovascularization accumulates at the edge of the vascularized retina and extends into the vitreous (also called extra retinal fibrosis proliferation). In cases of Zone 2 and Zone 3, this may be sausage shaped. In more posterior Zone 1 disease, the stage 3 can appear as a direct extension of the normal retinal vessels but extending tangentially over the avascular retina." [ISBN:978-3-319-52190-9] synonym: "ROP stage 3" EXACT HP:0045077 [] is_a: HP:0500049 ! Retinopathy of prematurity property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T18:43:45Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500053 name: Retinopathy of prematurity stage 4 def: "Scar tissue that forms a continuous sheet coming up from the edge of the vascularized retina. This scar tissue can grow toward the vitreous base/posterior lens capsule resulting in traction, distortion, and even detachment." [ISBN:978-3-319-52190-9] comment: Stage 4 can occur after treatment (unlike stages 1-3) and may be accelerated by the absence of vascular endothelial growth factor posttreatment leading to an accelerated cicatricial phase. synonym: "ROP stage 4" EXACT HP:0045077 [] is_a: HP:0500049 ! Retinopathy of prematurity property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T18:51:13Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500054 name: Retinopathy of prematurity stage 4a def: "A detachment that involves the peripheral retina that does not extend into the macula." [ISBN:978-3-319-52190-9] synonym: "ROP stage 4a" EXACT HP:0045077 [] is_a: HP:0500053 ! Retinopathy of prematurity stage 4 property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T18:56:37Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500055 name: Retinopathy of prematurity stage 4b def: "A detachment that involves the peripheral retina that involves the macula itself. The detachment usually starts in the temporal periphery although can also involve the nasal retina as well." [ISBN:978-3-319-52190-9] synonym: "ROP 4b" EXACT HP:0045077 [] is_a: HP:0500053 ! Retinopathy of prematurity stage 4 property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T18:56:48Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500056 name: Retinopathy of prematurity stage 5 def: "Funnel detachment from the retina with generally traction in all four quadrants." [ISBN:978-3-319-52190-9] synonym: "ROP stage 5" EXACT HP:0045077 [] is_a: HP:0500049 ! Retinopathy of prematurity property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T19:11:28Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500057 name: Retinopathy of prematurity stage 5a def: "An open funnel detachment of the retina with generally traction in all four quadrants." [ISBN:978-3-319-52190-9] synonym: "ROP stage 5a" EXACT HP:0045077 [] is_a: HP:0500056 ! Retinopathy of prematurity stage 5 property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T19:16:16Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500058 name: Retinopathy of prematurity stage 5b def: "A closed funnel detachment of the retina with generally traction in all four quadrants." [ISBN:978-3-319-52190-9] synonym: "ROP stage 5b" EXACT HP:0045077 [] is_a: HP:0500056 ! Retinopathy of prematurity stage 5 property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T19:16:26Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500059 name: Retinopathy of prematurity zone I def: "Retinopathy which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula." [ISBN:978-3-319-52190-9, PMID:16009843] synonym: "ROP zone 1" EXACT HP:0045077 [] is_a: HP:0500049 ! Retinopathy of prematurity property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T19:24:42Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500060 name: Retinopathy of prematurity zone II def: "Retinopathy which extends centrifugally from the edge of zone I to the nasal ora serrata." [ISBN:978-3-319-52190-9, PMID:16009843] synonym: "ROP zone II" EXACT HP:0045077 [] is_a: HP:0500049 ! Retinopathy of prematurity property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T19:52:54Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500061 name: Retinopathy of prematurity zone III def: "Retinopathy which is a residual crescent of retina anterior to zone II." [ISBN:978-3-319-52190-9, PMID:16009843] synonym: "ROP zone III" EXACT HP:0045077 [] is_a: HP:0500049 ! Retinopathy of prematurity property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T19:53:11Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500062 name: Retinopathy of prematurity plus def: "Venous dilatation and arteriolar tortuosity of the posterior retinal vessels and may later increase in severity to include iris vascular engorgement, poor pupillary dilatation (rigid pupil), and vitreous haze. This definition has been further refined in the later clinical trials in which the diagnosis of plus disease could be made if sufficient vascular dilatation and tortuosity are present in at least 2 quadrants of the eye." [PMID:16009843] synonym: "ROP plus" EXACT HP:0045077 [] is_a: HP:0500049 ! Retinopathy of prematurity property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T20:17:35Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500063 name: Retinopathy of prematurity pre-plus def: "As vascular abnormalities of the posterior pole that are insufficient for the diagnosis of plus disease but that demonstrate more arterial tortuosity and more venous dilatation than normal." [PMID:16009843] comment: Over time, the vessel abnormalities of pre-plus may progress to frank plus disease as the vessels dilate and become more tortuous. {xref="PMID:16009843"} synonym: "ROP pre-plus" EXACT HP:0045077 [] is_a: HP:0500049 ! Retinopathy of prematurity property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T20:18:12Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500064 name: Retinopathy of prematurity threshold def: "A retinopathy with a 50% likelihood of progressing to retinal detachment. Threshold disease is considered to be present when stage 3 retinopathy of prematurity (ROP) is present in either zone I or zone II, with at least 5 continuous or 8 total clock hours of disease, and the presence of plus disease." [ISBN:978-3-319-52190-9] synonym: "ROP threshold" EXACT HP:0045077 [] is_a: HP:0500049 ! Retinopathy of prematurity property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T20:26:45Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500065 name: Retinopathy of prematurity prethreshold def: "High risk patients who were in Zone 1 (no Plus or stage 3) or Zone 2 with Plus or stage 3 but not both." [ISBN:978-3-319-52190-9] synonym: "ROP prethreshold" EXACT HP:0045077 [] is_a: HP:0500049 ! Retinopathy of prematurity property_value: http://purl.org/dc/elements/1.1/date 2018-02-19T20:26:57Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500066 name: Latent myopia def: "The difference between total and manifest myopia." [ORCID:0000-0003-0986-4123] is_a: HP:0000545 ! Myopia property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T17:14:19Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500069 name: Paralytic ectropion def: "A type of ectropion associated with orbicularis muscle weakness caused by cranial nerve VII palsy." [ISBN-13:9781416029076, ORCID:0000-0003-0986-4123] is_a: HP:0000656 ! Ectropion property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T17:37:32Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500070 name: Conjunctival dermolipoma def: "A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus." [ORCID:0000-0003-0986-4123] is_a: HP:0000502 ! Abnormal conjunctiva morphology property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T17:48:12Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500072 name: Absolute eccentric fixation def: "Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation." [ORCID:0000-0003-0986-4123] is_a: HP:0025549 ! Eccentric visual fixation property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T18:22:07Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500073 name: Abnormal ocular alignment def: "Any deviation from the normal ocular alignment." [ORCID:0000-0001-7941-2961] is_a: HP:0000496 ! Abnormality of eye movement property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T18:50:33Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500074 name: Dissociated vertical deviation def: "An incomitant tendency for an occluded eye to elevate and extort which resolves on uncovering." [ISBN-13:978-0199679980] comment: Dissociated vertical deviation (DVD ) occurs when the level of illumination received by either eye is reduced sufficiently and as a result eye deviates progressively upwards, but reverts to its original position when the level of illumination returns to normally acceptable levels. It may sometimes be so asymmetrical as to be virtually unilateral and is associated with heterotropia usually of early onset. {xref="ISBN-13:978-0199679980", xref="ORCID:0000-0003-0986-4123"} is_a: HP:0500073 ! Abnormal ocular alignment property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T18:53:08Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500075 name: Dissociated horizontal deviation def: "A change in horizontal ocular alignment, unrelated to accommodation, that is brought about solely by a change in the balance of visual input from the two eyes." [PMID:18427617] is_a: HP:0500073 ! Abnormal ocular alignment property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T18:53:28Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500076 name: Alternating hypertropia def: "A type of vertical tropia in which, when one eye is fixing, the other eye is deviated upwards." [ORCID:0000-0003-0986-4123] is_a: HP:0025586 ! Hypertropia property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T19:13:10Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500077 name: Alternating hyperphoria def: "A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards." [ORCID:0000-0003-0986-4123] is_a: HP:0025585 ! Hyperphoria property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T19:15:24Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500078 name: Alternating hypotropia def: "A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards." [ORCID:0000-0003-0986-4123] is_a: HP:0025584 ! Hypotropia property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T19:22:54Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500079 name: Alternating hypophoria def: "A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards." [ORCID:0000-0003-0986-4123] is_a: HP:0031725 ! Hypophoria property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T19:24:11Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500081 name: Pseudophakia def: "The term pseudophakia refers to having an artificial lens implanted after the natural eye lens has been removed. During cataract surgery the natural cloudy lens is replaced by an pseudophakia intraocular lens (IOL)." [PMID:28358301] is_a: HP:0000517 ! Abnormality of the lens property_value: http://purl.org/dc/elements/1.1/date 2018-02-26T20:00:29Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500086 name: Optic nerve gray crescent def: "Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas." [PMID:24862768] comment: This type of disc rim pigmentation can create the impression of neuroretinal rim thinning, and thus lead to the misdiagnosis of glaucoma or "glaucoma suspect" with attendant implications for overtreatment or unnecessary close monitoring of such patients. {xref="PMID:24862768"} synonym: "Temporal gray pigmentary crescent" EXACT [] is_a: HP:0012511 ! Temporal optic disc pallor property_value: http://purl.org/dc/elements/1.1/date 2018-03-20T19:55:34Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500087 name: Peripapillary atrophy def: "Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve." [PMID:20920826] is_a: HP:0012512 ! Diffuse optic disc pallor property_value: http://purl.org/dc/elements/1.1/date 2018-03-20T20:01:02Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500088 name: Foveal depigmentation def: "Loss of pigment in the fovea centralis." [PMID:24023426] is_a: HP:0012643 ! Foveal hypopigmentation property_value: http://purl.org/dc/elements/1.1/date 2018-03-20T20:30:24Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500089 name: Optic nerve sheath meningioma def: "A benign tumour of meningothelial cells of the meninges that usually occurs in middle age. It is typically unilateral and there is an association with neurofibromatosis type 2." [ISBN-13:978-0199552641] is_a: HP:0002858 ! Meningioma property_value: http://purl.org/dc/elements/1.1/date 2018-03-20T20:36:12Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500090 name: Periocular capillary hemangioma def: "A capillary hemangioma surrounding the eyeball but within the orbit." [PMID:20616917] synonym: "Peri-ocular capillary hemangioma" EXACT [] is_a: HP:0005306 ! Capillary hemangioma property_value: http://purl.org/dc/elements/1.1/date 2018-03-27T14:45:09Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500091 name: Lymphangioma of the orbit def: "A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage." [ISBN-13:978-0199679980] is_a: HP:0030670 ! Hamartoma of the orbital region is_a: HP:0100764 ! Lymphangioma property_value: http://purl.org/dc/elements/1.1/date 2018-03-27T14:55:41Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500092 name: Orbital rhabdomyosarcoma def: "A mesenchymal tumour that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit." [] is_a: HP:0002859 ! Rhabdomyosarcoma property_value: http://purl.org/dc/elements/1.1/date 2018-03-27T15:11:41Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500093 name: Food allergy def: "Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods." [PMID:27069254, PMID:27069841] synonym: "Food allergy" EXACT layperson [] synonym: "IgE-mediated food allergy" EXACT [] synonym: "Immunoglobulin E-mediated food allergy" EXACT [] is_a: HP:0012393 ! Allergy property_value: http://purl.org/dc/elements/1.1/date 2018-04-27T19:35:00Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500094 name: Latex allergy def: "Latex allergy is an IgE-mediated immediate hypersensitivity response to natural rubber latex (NRL) protein with a variety of clinical signs ranging from contact urticaria, angioedema, asthma, and anaphylaxis." [PMID:15327474] is_a: HP:0012393 ! Allergy property_value: http://purl.org/dc/elements/1.1/date 2018-04-27T19:47:57Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500095 name: Food-induced anaphylaxis def: "Food-induced anaphylaxis is a severe, potentially fatal, systemic allergic reaction that occurs suddenly after contact with an allergy-causing food." [PMID:16461139] is_a: HP:0100845 ! Anaphylactic shock property_value: http://purl.org/dc/elements/1.1/date 2018-04-27T19:55:30Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500096 name: Venom-induced anaphylaxis def: "A form of anaphylaxis that is triggered by exposure to venom." [PMID:21458655] is_a: HP:0100845 ! Anaphylactic shock property_value: http://purl.org/dc/elements/1.1/date 2018-04-27T20:09:07Z xsd:dateTime created_by: ORCID:0000-0001-7941-2961 [Term] id: HP:0500097 name: Stool xenobiotic def: "Presence of xenobiotic in stool." [] is_a: HP:0031838 ! Presence of xenobiotic property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T13:42:31Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500098 name: Meconium xenobiotic def: "Presence of a xenobiotic in meconium." [] is_a: HP:0500097 ! Stool xenobiotic property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T13:43:07Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500099 name: Hair xenobiotic def: "Presence of xenobiotic in hair." [] is_a: HP:0031838 ! Presence of xenobiotic property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T13:44:10Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500100 name: Plasma/serum xenobiotic def: "Presence of a xenobiotic in plasma and/or serum." [] is_a: HP:0410172 ! Blood xenobiotic property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T13:45:51Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500101 name: Gastric fluid xenobiotic def: "Presence of a xenobiotic in gastric fluid." [] is_a: HP:0031838 ! Presence of xenobiotic property_value: http://purl.org/dc/elements/1.1/date 2018-05-21T13:46:36Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500104 name: Decreased diastolic blood pressure def: "Abnormal decrease in diastolic blood pressure." [PMID:21947466] synonym: "Decreased diastolic BP" EXACT HP:0045077 [] synonym: "Reduced diastolic blood pressure." EXACT [] is_a: HP:0002615 ! Hypotension property_value: http://purl.org/dc/elements/1.1/date 2018-06-22T13:58:31Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500105 name: Decreased systolic blood pressure def: "Abnormal decrease in systolic blood pressure." [PMID:21947466] synonym: "Decreased systolic BP" EXACT HP:0045077 [] synonym: "Reduced systolic blood pressure" EXACT [] is_a: HP:0002615 ! Hypotension property_value: http://purl.org/dc/elements/1.1/date 2018-06-22T14:02:09Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500106 name: Isolated systolic hypertension def: "Elevated systolic blood pressure without an elevated blood pressure." [PMID:21947466] comment: Isolated systolic hypertension or an elevated systolic blood pressure without an elevated diastolic blood pressure is a known risk factor for incident heart failure in older adults. {xref="PMID:21947466"} is_a: HP:0004421 ! Elevated systolic blood pressure property_value: http://purl.org/dc/elements/1.1/date 2018-06-22T14:04:14Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500107 name: Isolated diastolic hypotension def: "A decrease in diastolic blood pressure (<60 mmHg) without a decrease in systolic blood pressure (> or = to 100 mmHg)." [PMID:21947466] comment: Isolated diastolic hypotension is a risk factor for incident heart failure. {xref="PMID:21947466"} is_a: HP:0500104 ! Decreased diastolic blood pressure property_value: http://purl.org/dc/elements/1.1/date 2018-06-22T14:06:56Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500108 name: Positive urine cocaine test def: "Detection of cocaine or its major metabolite, benzoylecgonine, in urine." [] comment: Cocaine is an illicit stimulant that has a high potential for abuse and addiction. is_a: HP:0031840 ! Urine xenobiotic property_value: http://purl.org/dc/elements/1.1/date 2018-06-25T15:07:40Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500109 name: Positive urine barbiturate test def: "Detection of barbiturate metabolites such as Phenobarbital in urine." [ORCID:0000-0001-7941-2961] comment: Barbiturates are central nervous depressants. They can reduce heart rate, breathing, and blood pressure. {xref="PMID:26339207"} is_a: HP:0031840 ! Urine xenobiotic property_value: http://purl.org/dc/elements/1.1/date 2018-06-25T15:19:29Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500110 name: Positive urine cannabinoid test def: "Detection of delta-9-tetrahydrocannabinol (THC) or other cannabinoid metabolites in urine." [] comment: Cannabis (marijuana, hashish) is the most widely used illegal drug in the world. The primary psychoactive component in cannabis is delta9-tetrahydrocannabinol (THC), which is rapidly metabolized to equipotent 11-hydroxy-THC (11-OH-THC) and non-psychoactive 11-nor-9-carboxy- delta9-tetrahydrocannabinol (THCCOOH). {xref="PMID:21134021"} synonym: "Positive urine marijuana test" EXACT layperson [] synonym: "Postive urine pot test" EXACT layperson [] is_a: HP:0031840 ! Urine xenobiotic property_value: http://purl.org/dc/elements/1.1/date 2018-06-25T15:40:37Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500111 name: Positive urine benzodiazepines test def: "Detection of benzodiazepine metabolites, primarily nordiazepam, oxazepam, and temazepam, in urine." [] is_a: HP:0031840 ! Urine xenobiotic property_value: http://purl.org/dc/elements/1.1/date 2018-06-25T16:04:20Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500112 name: Positive urine amphetamine test def: "Detection of amphetamine or its metabolites in urine." [] is_a: HP:0031840 ! Urine xenobiotic property_value: http://purl.org/dc/elements/1.1/date 2018-06-25T16:49:42Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500113 name: Positive urine opioid test def: "Detection of opioids or opioid metabolites in urine." [] comment: Opiates are the natural or synthetic drugs that have a morphine-like pharmacological action. Medically, opiates are used primarily for relief of pain. Opiates include morphine and drugs structurally similar to morphine (eg, codeine, hydrocodone, hydromorphone, oxycodone). is_a: HP:0031840 ! Urine xenobiotic property_value: http://purl.org/dc/elements/1.1/date 2018-06-25T17:20:19Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500114 name: Abnormal stool urobilinogen concentration def: "Abnormal concentration of urobilinogen present in the stool." [ORCID:0000-0001-7941-2961] is_a: HP:0031685 ! Abnormal stool composition property_value: http://purl.org/dc/elements/1.1/date 2018-07-20T14:59:44Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500115 name: Increased stool urobilinogen concentration def: "An increased amount of urobilinogen present in the stool." [ORCID:0000-0001-7941-2961] comment: Urobilinogen is formed from the reduction of bilirubin. An increased amount of urobilinogen in the urine may be indicative of liver disease. {xref="HPO:probinson"} is_a: HP:0500114 ! Abnormal stool urobilinogen concentration property_value: http://purl.org/dc/elements/1.1/date 2018-07-20T15:00:15Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500116 name: Positive blood barbiturate test def: "Detection of barbiturate metabolites such as Phenobarbital in blood." [ORCID:0000-0001-7941-2961] is_a: HP:0410172 ! Blood xenobiotic property_value: http://purl.org/dc/elements/1.1/date 2018-07-20T15:10:44Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500117 name: Abnormal CSF urate concentration def: "Abnormal concentration of urate in the cerebrospinal fluid (CSF)." [ORCID:0000-0001-7941-2961] comment: Urate is largely excluded from the brain under non-inflammatory conditions but increases in particular conditions such as Guillain-Barre Syndrome and bacterial meningitis. {xref="PMID:15571231"} is_a: HP:0025454 ! Abnormal CSF metabolite level property_value: http://purl.org/dc/elements/1.1/date 2018-07-20T15:35:00Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500132 name: Hypovalinemia def: "A decreased amount of valine in the blood." [https://orcid.org/0000-0001-7941-2961] synonym: "Low blood valine concentration" EXACT layperson [https://orcid.org/0000-0001-7941-2961] is_a: HP:0010914 ! Abnormal circulating valine concentration property_value: http://purl.org/dc/elements/1.1/date 2018-10-01T14:47:05Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500133 name: Hypotyrosinemia def: "An decreased concentration of tyrosine in the blood." [https://orcid.org/0000-0001-7941-2961] synonym: "Decreased tyrosine in blood" EXACT layperson [https://orcid.org/0000-0001-7941-2961] synonym: "Low blood tyrosine concentration" EXACT layperson [https://orcid.org/0000-0001-7941-2961] is_a: HP:0010917 ! Abnormal circulating tyrosine concentration property_value: http://purl.org/dc/elements/1.1/date 2018-10-01T15:01:56Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500134 name: Hypertryptophanemia def: "An increased amount of tryptophan in the blood." [https://orcid.org/0000-0001-7941-2961] synonym: "High blood tryptophan concentration" EXACT layperson [https://orcid.org/0000-0001-7941-2961] synonym: "Increased tryptophan in blood" EXACT layperson [https://orcid.org/0000-0001-7941-2961] is_a: HP:0004365 ! Abnormal circulating tryptophan concentration property_value: http://purl.org/dc/elements/1.1/date 2018-10-01T15:09:12Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500135 name: Hypotryptophanemia def: "A decreased amount of tryptophan in the blood." [https://orcid.org/0000-0001-7941-2961] synonym: "Decreased tryptophan in blood" EXACT layperson [https://orcid.org/0000-0001-7941-2961] synonym: "Low blood tryptophan concentration" EXACT layperson [https://orcid.org/0000-0001-7941-2961] is_a: HP:0004365 ! Abnormal circulating tryptophan concentration property_value: http://purl.org/dc/elements/1.1/date 2018-10-01T15:10:31Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500136 name: Hypothreoninemia def: "A decreased amount of threonine in the blood." [https://orcid.org/0000-0001-7941-2961] synonym: "Decreased circulating threonine levels" EXACT [] synonym: "Decreased threonine blood levels" EXACT layperson [https://orcid.org/0000-0001-7941-2961] synonym: "Low blood threonine concentration" EXACT layperson [https://orcid.org/0000-0001-7941-2961] is_a: HP:0010900 ! Abnormal circulating threonine concentration property_value: http://purl.org/dc/elements/1.1/date 2018-10-01T16:07:19Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500138 name: Hyperserinemia def: "An increased amount of serine in the blood." [] synonym: "Elevated circulating serine levels" EXACT [] synonym: "High blood serine levels" EXACT layperson [https://orcid.org/0000-0001-7941-2961] synonym: "Increased serine blood concentration" EXACT layperson [https://orcid.org/0000-0001-7941-2961] is_a: HP:0012278 ! Abnormal circulating serine concentration property_value: http://purl.org/dc/elements/1.1/date 2018-10-01T16:54:02Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500139 name: Hypoprolinemia def: "A decreased amount of proline in the blood." [http://orcid.org/0000-0001-7941-2961] synonym: "Decreased blood proline levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961] synonym: "Low blood proline concentration" EXACT layperson [http://orcid.org/0000-0001-7941-2961] is_a: HP:0010907 ! Abnormal circulating proline concentration property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T19:35:50Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500140 name: Decreased circulating hydroxyproline concentration def: "A decreased amount of hydroxyproline in the blood." [PMID:4690509] synonym: "Decreased hydroxyproline in the blood" EXACT layperson [PMID:4690509] synonym: "Low level of hydroxyproline in the blood" EXACT layperson [PMID:4690509] is_a: HP:0010907 ! Abnormal circulating proline concentration property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T19:43:23Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500141 name: Hypophenylalaninemia def: "A decreased amount of phenylalanine in the blood." [http://orcid.org/0000-0001-7941-2961] synonym: "Decreased blood phenylalanine" EXACT layperson [http://orcid.org/0000-0001-7941-2961] synonym: "Low blood phenylalanine" EXACT layperson [http://orcid.org/0000-0001-7941-2961] is_a: HP:0010893 ! Abnormal circulating phenylalanine concentration property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T19:58:21Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500142 name: Hypolysinemia def: "A decreased amount of lysine in the blood." [http://orcid.org/0000-0001-7941-2961] synonym: "Decreased blood lysine" EXACT layperson [http://orcid.org/0000-0001-7941-2961] synonym: "Low blood lysine levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961] is_a: HP:0010908 ! Abnormal circulating lysine concentration property_value: http://purl.org/dc/elements/1.1/date 2018-10-03T20:04:58Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500143 name: Hypoleucinemia def: "Decreased amount of leucine in the blood." [http://orcid.org/0000-0001-7941-2961] synonym: "Decreased blood concentration of leucine" EXACT layperson [http://orcid.org/0000-0001-7941-2961] synonym: "Low blood leucine levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961] is_a: HP:0004357 ! Abnormal circulating leucine concentration property_value: http://purl.org/dc/elements/1.1/date 2018-10-04T13:17:00Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500144 name: Hypoisoleucinemia def: "A decreased amount of isoleucine in the blood." [http://orcid.org/0000-0001-7941-2961] synonym: "Decreased blood isoleucine concentration" EXACT layperson [http://orcid.org/0000-0001-7941-2961] synonym: "Low blood isoleucine levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961] is_a: HP:0010912 ! Abnormal circulating isoleucine concentration property_value: http://purl.org/dc/elements/1.1/date 2018-10-04T13:22:24Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500145 name: Hypohistidinemia def: "A decreased amount of histidine in the blood." [http://orcid.org/0000-0001-7941-2961] synonym: "Decreased blood histidine concentration" EXACT layperson [http://orcid.org/0000-0001-7941-2961] synonym: "Low blood histidine levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961] is_a: HP:0010904 ! Abnormal circulating histidine concentration property_value: http://purl.org/dc/elements/1.1/date 2018-10-04T13:28:34Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500147 name: Hypoglutaminemia def: "Decreased amount of glutamine in the blood." [http://orcid.org/0000-0001-7941-2961] synonym: "Decreased blood glutamine concentration" EXACT layperson [http://orcid.org/0000-0001-7941-2961] synonym: "Low blood glutamine level" EXACT layperson [http://orcid.org/0000-0001-7941-2961] is_a: HP:0010903 ! Abnormal circulating glutamine concentration property_value: http://purl.org/dc/elements/1.1/date 2018-10-04T14:11:16Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500148 name: Abnormal circulating glutamate concentration def: "Any deviation from the normal concentration of glutamate in the blood circulation." [] synonym: "Abnormality of glutamate metabolism" EXACT [] is_a: HP:0010902 ! Abnormal circulating glutamine family amino acid concentration property_value: http://purl.org/dc/elements/1.1/date 2018-10-04T14:22:57Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500149 name: Hyperglutamatemia def: "An increased amount of glutamate in the blood." [PMID:22949847] comment: Under normal circumstances, plasma glutamate concentration is 5-100 microM/L, the whole blood concentration is 150-300 microM/L while in the brain's ECF it is only 0.3-2 microM/L. {xref="PMID:22949847"} synonym: "High blood glutamate levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961] synonym: "Increased blood glutamate concentration" EXACT layperson [http://orcid.org/0000-0001-7941-2961] is_a: HP:0500148 ! Abnormal circulating glutamate concentration property_value: http://purl.org/dc/elements/1.1/date 2018-10-04T14:29:35Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500150 name: Hypoglutamatemia def: "A decreased amount of glutamate in the blood." [PMID:22949847] comment: Under normal circumstances, plasma glutamate concentration is 5-100 microM/L, the whole blood concentration is 150-300 microM/L while in the brain's ECF it is only 0.3-2 microM/L. {xref="PMID:22949847"} synonym: "Decreased blood glutamate concentrations" EXACT layperson [http://orcid.org/0000-0001-7941-2961] synonym: "Low blood glutamate levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961] is_a: HP:0500148 ! Abnormal circulating glutamate concentration property_value: http://purl.org/dc/elements/1.1/date 2018-10-04T14:29:47Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500151 name: Hypercystinemia def: "An increased amount of cystine in the blood." [http://orcid.org/0000-0001-7941-2961] synonym: "High blood cystine levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961] synonym: "Increased blood cystine concentraions" EXACT layperson [http://orcid.org/0000-0001-7941-2961] is_a: HP:0010918 ! Abnormal circulating cysteine concentration property_value: http://purl.org/dc/elements/1.1/date 2018-10-04T14:59:26Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500152 name: Hypocystinemia def: "A decreased amount of cystine in the blood." [http://orcid.org/0000-0001-7941-2961] synonym: "Decreased blood cystine concentration" EXACT layperson [http://orcid.org/0000-0001-7941-2961] synonym: "Low blood cystine levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961] is_a: HP:0010918 ! Abnormal circulating cysteine concentration property_value: http://purl.org/dc/elements/1.1/date 2018-10-04T14:59:36Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500153 name: Hyperargininemia def: "An increased amount of arginine levels in the blood." [http://orcid.org/0000-0001-7941-2961] synonym: "High blood arginine levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961] synonym: "Increased blood arginine concentration" EXACT layperson [http://orcid.org/0000-0001-7941-2961] is_a: HP:0010909 ! Abnormal circulating arginine concentration property_value: http://purl.org/dc/elements/1.1/date 2018-10-05T14:45:02Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500154 name: Hypoalaninemia def: "A decreased amount of alanine in the blood." [http://orcid.org/0000-0001-7941-2961] synonym: "Decreased blood alanine concentration" EXACT layperson [http://orcid.org/0000-0001-7941-2961] synonym: "Low blood alanine levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961] is_a: HP:0010916 ! Abnormal circulating alanine concentration property_value: http://purl.org/dc/elements/1.1/date 2018-10-05T14:55:51Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500155 name: Abnormal circulating asparagine concentration def: "Any deviation from the normal concentration of asparagine in the blood circulation." [http://orcid.org/0000-0001-7941-2961] comment: Asparagine is a polar, aliphatic amino acid. synonym: "Abnormality of asparagine metabolism" EXACT [] is_a: HP:0010899 ! Abnormal circulating aspartate family amino acid concentration property_value: http://purl.org/dc/elements/1.1/date 2018-10-05T15:06:56Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500156 name: Hyperasparaginemia def: "An increased amount of asparagine in the blood." [http://orcid.org/0000-0001-7941-2961] synonym: "High blood asaparagine levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961] synonym: "Increased blood asparagine concentration" EXACT layperson [http://orcid.org/0000-0001-7941-2961] is_a: HP:0500155 ! Abnormal circulating asparagine concentration property_value: http://purl.org/dc/elements/1.1/date 2018-10-05T15:12:27Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500157 name: Hypoasparaginemia def: "A decreased amount of asparagine in the blood." [http://orcid.org/0000-0001-7941-2961] synonym: "Decreased blood asparagine concentration" EXACT layperson [http://orcid.org/0000-0001-7941-2961] synonym: "Low blood asparagine levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961] is_a: HP:0500155 ! Abnormal circulating asparagine concentration property_value: http://purl.org/dc/elements/1.1/date 2018-10-05T15:12:38Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500158 name: Abnormal circulating aspartic acid concentration def: "Any deviation from the normal concentration of aspartate in the blood circulation." [ORCID:0000-0001-7941-2961] comment: Aspartate is classified as an acidic amino acid. synonym: "Abnormal circulating aspartate concentration" EXACT [] is_a: HP:0010899 ! Abnormal circulating aspartate family amino acid concentration property_value: http://purl.org/dc/elements/1.1/date 2018-10-05T15:26:40Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500159 name: Increased level of circulating aspartic acid def: "An increased amount of aspartic acid in the blood." [PMID:7353275] synonym: "High blood aspartic acid levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961] synonym: "Increased blood aspartic acid" EXACT layperson [http://orcid.org/0000-0001-7941-2961] is_a: HP:0500158 ! Abnormal circulating aspartic acid concentration property_value: http://purl.org/dc/elements/1.1/date 2018-10-05T15:38:23Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500160 name: Abnormal circulating carnosine concentration def: "Any deviation from the normal concentration of carnosine in the blood circulation." [ORCID:0000-0001-7941-2961, PMID:20017611] comment: Carnosine is a neuroprotective dipeptide consisting of beta-alanine and L-histidine. synonym: "Abnormality of carnosine metabolism" EXACT [] is_a: HP:0003112 ! Abnormality of serum amino acid level property_value: http://purl.org/dc/elements/1.1/date 2018-10-05T15:52:07Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500161 name: Increased level of carnosine in blood def: "An increased amount of carnosine in the blood." [http://orcid.org/0000-0001-7941-2961] synonym: "High blood carnosine levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961] synonym: "Increased blood carnosine concenrtation" EXACT layperson [http://orcid.org/0000-0001-7941-2961] is_a: HP:0500160 ! Abnormal circulating carnosine concentration property_value: http://purl.org/dc/elements/1.1/date 2018-10-05T16:07:32Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500162 name: Decreased level of carnosine in blood def: "A decreased amount of carnosine in bood." [http://orcid.org/0000-0001-7941-2961] synonym: "Decreased blood carnosine concentration" EXACT layperson [http://orcid.org/0000-0001-7941-2961] synonym: "Low blood carnosine levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961] is_a: HP:0500160 ! Abnormal circulating carnosine concentration property_value: http://purl.org/dc/elements/1.1/date 2018-10-05T16:11:06Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500163 name: Hypoornithinemia def: "An abnormal decrease in ornithine in the blood." [http://orcid.org/0000-0001-7941-2961] synonym: "Decreased blood ornithine concentrations" EXACT layperson [http://orcid.org/0000-0001-7941-2961] synonym: "Low blood ornithine levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961] is_a: HP:0012025 ! Abnormal circulating ornithine concentration property_value: http://purl.org/dc/elements/1.1/date 2018-10-12T13:25:49Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500164 name: Abnormal blood carbon dioxide level def: "An abnormality of carbon dioxide (CO2) in the arterial blood." [http://orcid.org/0000-0001-7941-2961] synonym: "Abnormal blood carbon dioxide level" EXACT layperson [http://orcid.org/0000-0001-7941-2961] synonym: "Abnormal CO2 levels in blood" EXACT layperson [http://orcid.org/0000-0001-7941-2961] is_a: HP:0012415 ! Abnormal blood gas level property_value: http://purl.org/dc/elements/1.1/date 2018-10-17T15:09:16Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500165 name: Abnormal blood oxygen level def: "An abnormality of the partial pressure of oxygen in the arterial blood." [HPO:probinson] synonym: "Abnormal blood O2 level" EXACT HP:0045077 [] synonym: "Abnormal blood oxygen levels" EXACT layperson [http://orcid.org/0000-0001-7941-2961] synonym: "Abnromal O2 blood concentration" EXACT layperson [http://orcid.org/0000-0001-7941-2961] is_a: HP:0012415 ! Abnormal blood gas level property_value: http://purl.org/dc/elements/1.1/date 2018-10-17T15:14:35Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500166 name: Abnormal circulating gastrin level def: "An abnormal concentration of gastrin in the blood." [http://orcid.org/0000-0001-7941-2961] is_a: HP:0003117 ! Abnormal circulating hormone level property_value: http://purl.org/dc/elements/1.1/date 2018-11-05T18:46:36Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500167 name: Hypergastrinemia def: "An elevated amount of gastrin in the blood." [http://orcid.org/0000-0001-7941-2961] synonym: "Elevated gastrin in the blood" EXACT layperson [http://orcid.org/0000-0001-7941-2961] synonym: "Increased blood gastrin" EXACT layperson [http://orcid.org/0000-0001-7941-2961] is_a: HP:0500166 ! Abnormal circulating gastrin level property_value: http://purl.org/dc/elements/1.1/date 2018-11-05T18:51:20Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500170 name: Abnormal concentration of acylcarnitine in the urine def: "An abnormal amount of acylcarnitine in the urine." [http://orcid.org/0000-0001-7941-2961] comment: Combined, the total daily bile and urine production of acylcarnitine is <200 micromol. {xref="PMID:23258903"} is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: http://purl.org/dc/elements/1.1/date 2018-11-05T19:19:05Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500173 name: Reflex asystolic syncope def: "A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure." [PMID:23814085] synonym: "Reflex anoxic seizure" EXACT [PMID:23814085] synonym: "Reflex anoxic seizures" EXACT [PMID:23814085] is_a: HP:0001279 ! Syncope property_value: http://purl.org/dc/elements/1.1/date 2018-11-20T13:57:33Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500180 name: Abnormal circulating amino sulfonic acid concentration is_a: HP:0032180 ! Abnormal circulating metabolite concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-22T17:26:10Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500181 name: Hypertaurinemia def: "An increased amount of taurine in the blood." [] synonym: "Elevated serum taurine levels" EXACT [] synonym: "Increased circulating taurine levels in the blood" EXACT [] is_a: HP:0500180 ! Abnormal circulating amino sulfonic acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-22T17:28:00Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500182 name: Hypotaurinemia def: "A decreased amount of taurine in the blood." [] synonym: "Decreased circulating taurine levels" EXACT [] synonym: "Lower blood levels of taurine" EXACT [] synonym: "Reduced taurine levels in the blood" EXACT [] is_a: HP:0500180 ! Abnormal circulating amino sulfonic acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-22T17:29:23Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500183 name: Abnormal CSF carboxylic acid concentration def: "Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid." [] is_a: HP:0032207 ! Abnormal cerebrospinal fluid metabolite concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T15:15:53Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500184 name: Abnormal CSF amino acid concentration def: "Any deviation from the normal concentration of amino acids in the cerebrospinal fluid." [PMID:715764] synonym: "Abnormal amino acid levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500183 ! Abnormal CSF carboxylic acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T15:20:22Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500185 name: Abnormal CSF branched chain amino acid concentration def: "Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid." [PMID:715764] synonym: "Abnormal branched-chain amino acid levels in cerbrospinal fluid" EXACT [PMID:715764] is_a: HP:0500184 ! Abnormal CSF amino acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T15:24:13Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500186 name: Abnormal CSF valine concentration def: "Any deviation from the normal concentration of valine in the cerebrospinal fluid." [PMID:715764] synonym: "Abnormal valine levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500185 ! Abnormal CSF branched chain amino acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T15:28:13Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500187 name: Increased CSF valine concentration def: "Any increased amount from normal of valine in the cerebrospinal fluid." [PMID:715764] synonym: "High valine levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500186 ! Abnormal CSF valine concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T15:37:57Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500188 name: Decreased CSF valine concentration def: "Any decreased amount from normal of valine in the cerebrospinal fluid." [PMID:715764] synonym: "Low valine levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500186 ! Abnormal CSF valine concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T15:40:23Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500189 name: Abnormal CSF leucine concentration def: "Any deviation from the normal concentration of leucine in the cerebrospinal fluid." [PMID:715764] synonym: "Abnormal leucine levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500185 ! Abnormal CSF branched chain amino acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T15:52:19Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500190 name: Decreased CSF leucine concentration def: "Abnormally decreased levels of leucine in the cerebrospinal fluid." [PMID:715764] synonym: "Low leucine levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500189 ! Abnormal CSF leucine concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T15:52:49Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500191 name: Increased CSF leucine concentration def: "Abnormally increased levels of leucine in cerebrospinal fluid." [PMID:715764] synonym: "High leucine levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500189 ! Abnormal CSF leucine concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T15:53:12Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500192 name: Abnormal CSF isoleucine concentration def: "Any deviation from the normal concentration of isoleucine in the cerebrospinal fluid." [PMID:715764] synonym: "Abnormal isoleucine levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500185 ! Abnormal CSF branched chain amino acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T16:24:44Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500193 name: Increased CSF isoleucine concentration def: "Abnormally increased levels of isoleucine in cerebrospinal fluid." [PMID:715764] synonym: "High levels of isoleucine in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500192 ! Abnormal CSF isoleucine concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T16:25:11Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500194 name: Decreased CSF isoleucine concentration def: "Abnormally decreased levels of isoleucine in cerebrospinal fluid." [PMID:715764] synonym: "Low levels of isoleucine in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500192 ! Abnormal CSF isoleucine concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T16:25:36Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500195 name: Abnormal CSF glutamine family amino acid concentration def: "Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid." [PMID:715764] synonym: "Abnormal glutamine family amino acid levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500184 ! Abnormal CSF amino acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T16:41:53Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500196 name: Abnormal CSF glutamine concentration def: "Any deviation from the normal concentration of glutamine amino acids in the cerebrospinal fluid." [PMID:715764] synonym: "Abnormal glutamine levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500195 ! Abnormal CSF glutamine family amino acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T16:42:34Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500197 name: Increased CSF glutamine concentration def: "Abnormally increased levels of glutamine in cerebrospinal fluid." [PMID:715764] synonym: "High glutamine levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500196 ! Abnormal CSF glutamine concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T16:43:02Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500198 name: Decreased CSF glutamine concentration def: "Abnormally decreased levels of glutamine in cerebrospinal fluid." [PMID:715764] synonym: "Low glutamine levels in cerebrospinal fluid" EXACT [] is_a: HP:0500196 ! Abnormal CSF glutamine concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T16:43:22Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500199 name: Abnormal CSF glutamate concentration def: "Any deviation from the normal concentration of glutamic acid in the cerebrospinal fluid." [PMID:715764] synonym: "Abnormal glutamic acid levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500195 ! Abnormal CSF glutamine family amino acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T16:56:56Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500200 name: Increased CSF glutamate concentration def: "Abnormally increased levels of glutamic acid in cerebrospinal fluid." [PMID:715764] synonym: "High glutamic acid levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500199 ! Abnormal CSF glutamate concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T16:57:13Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500201 name: Decreased CSF glutamate concentration def: "Abnormally decreased levels of glutamic acid in cerebrospinal fluid." [PMID:715764] synonym: "Low glutamic acid levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500199 ! Abnormal CSF glutamate concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T16:57:30Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500202 name: Abnormal CSF arginine concentration def: "Any deviation from the normal concentration of arginine in the cerebrospinal fluid." [PMID:715764] synonym: "Abnormal arginine levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500195 ! Abnormal CSF glutamine family amino acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T17:12:23Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500203 name: Increased CSF arginine concentration def: "Abnormally increased levels of arginine in cerebrospinal fluid." [PMID:715764] synonym: "High arginine levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500202 ! Abnormal CSF arginine concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T17:12:38Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500204 name: Decreased CSF arginine concentration def: "Abnormally decreased levels of arginine in cerebrospinal fluid." [PMID:715764] synonym: "Low arginine levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500202 ! Abnormal CSF arginine concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T17:12:54Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500205 name: Abnormal CSF aspartate family amino acid concentration def: "Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid." [PMID:715764] synonym: "Abnormal aspartate-family amino acid levels in cerebrospinal fluid" EXACT [] is_a: HP:0500184 ! Abnormal CSF amino acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T18:30:37Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500206 name: Abnormal CSF lysine concentration def: "Any deviation from the normal concentration of lysine in the cerebrospinal fluid." [PMID:715764] synonym: "Abnormal lysine levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500205 ! Abnormal CSF aspartate family amino acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T18:31:42Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500207 name: Decreased CSF lysine concentration def: "Abnormally decreased levels of lysine in cerebrospinal fluid." [PMID:715764] synonym: "Low lysine levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500206 ! Abnormal CSF lysine concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T18:31:54Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500208 name: Increased CSF lysine concentration def: "Abnormally increased levels of lysine in cerebrospinal fluid." [] synonym: "High lysine levels in cerebrospinal fluid" EXACT [] is_a: HP:0500206 ! Abnormal CSF lysine concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T18:32:16Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500209 name: Abnormal CSF methionine concentration def: "Any deviation from the normal concentration of methionine in the cerebrospinal fluid." [PMID:715764] synonym: "Abnormal methionine levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500205 ! Abnormal CSF aspartate family amino acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T18:58:00Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500210 name: Increased CSF methionine concentration def: "Abnormally increased levels of methionine in cerebrospinal fluid." [PMID:715764] synonym: "High methionine levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500209 ! Abnormal CSF methionine concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T18:58:44Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500211 name: Abnormal CSF threonine concentration def: "Any deviation from the normal concentration of threonine in the cerebrospinal fluid." [PMID:715764] synonym: "Abnormal threonine levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500205 ! Abnormal CSF aspartate family amino acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T19:08:53Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500212 name: Increased CSF threonine concentration def: "Abnormally increased levels of threonine in cerebrospinal fluid." [PMID:715764] synonym: "High threonine levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500211 ! Abnormal CSF threonine concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T19:09:32Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500213 name: Decreased CSF threonine concentration def: "Abnormally decreased levels of threonine in cerebrospinal fluid." [PMID:715764] synonym: "Low threonine levels in the cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500211 ! Abnormal CSF threonine concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T19:10:14Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500214 name: Abnormal CSF aromatic amino acid concentration def: "Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid." [PMID:715764] synonym: "Abnormal aromatic amino acid levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500184 ! Abnormal CSF amino acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T19:28:05Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500215 name: Abnormal CSF phenylalanine concentration def: "Any deviation from the normal concentration of phenylalanine in the cerebrospinal fluid." [PMID:715764] synonym: "Abnormal phenylalanine levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500214 ! Abnormal CSF aromatic amino acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T19:28:51Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500216 name: Abnormal CSF aspartate concentration def: "Any deviation from the normal concentration of aspartic acid in the cerebrospinal fluid." [] synonym: "Abnormal aspartic acid levels in cerebrospinal fluid" EXACT [] synonym: "Abnormal CSF aspartic acid concentration" EXACT [] is_a: HP:0500205 ! Abnormal CSF aspartate family amino acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T19:31:26Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500217 name: Increased CSF aspartate concentration def: "Abnormally increased levels of aspartic acid in cerebrospinal fluid." [PMID:715764] synonym: "High aspartic acid levels in cerebrospinal fluid" EXACT [PMID:715764] synonym: "Increased CSF aspartic acid concentration" EXACT [PMID:715764] is_a: HP:0500216 ! Abnormal CSF aspartate concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T19:32:03Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500218 name: Abnormal CSF tryptophan concentration def: "Any deviation from the normal concentration of tryptophan in the cerebrospinal fluid." [PMID:715764] synonym: "Abnormal tryptophan levels in cerebrospinal fluid" EXACT [] is_a: HP:0500214 ! Abnormal CSF aromatic amino acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T19:44:06Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500219 name: Abnormal CSF tyrosine concentration def: "Any deviation from the normal concentration of tyrosine in the cerebrospinal fluid." [PMID:715764] synonym: "Abnormal tyrosine levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500214 ! Abnormal CSF aromatic amino acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T19:48:03Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500220 name: Increased CSF tyrosine concentration def: "Abnormally increased levels of tyrosine in cerebrospinal fluid." [PMID:715764] synonym: "High tyrosine levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500219 ! Abnormal CSF tyrosine concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T19:53:00Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500221 name: Decreased CSF tyrosine concentration def: "Abnormally decreased levels of tyrosine in cerebrospinal fluid." [PMID:715764] synonym: "Low tyrosine levels in the cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500219 ! Abnormal CSF tyrosine concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T19:53:22Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500222 name: Increased CSF tryptophan concentration def: "Abnormally increased levels of tryptophan in cerebrospinal fluid." [PMID:715764] synonym: "High tryptophan levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500218 ! Abnormal CSF tryptophan concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T20:07:30Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500223 name: Increased CSF phenylalanine concentration def: "Abnormally increased levels of phenylalanine in cerebrospinal fluid." [PMID:715764] synonym: "High phenylalanine levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500215 ! Abnormal CSF phenylalanine concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T20:13:37Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500224 name: Decreased CSF phenylalanine concentration def: "Abnormally decreased levels of phenylalanine in cerebrospinal fluid." [PMID:715764] synonym: "Low phenylalanine levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500215 ! Abnormal CSF phenylalanine concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T20:13:51Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500225 name: Abnormal CSF serine family amino acid concentration def: "Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid." [PMID:715764] synonym: "Abnormal serine-family amino acid levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500184 ! Abnormal CSF amino acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T20:27:34Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500226 name: Abnormal CSF serine concentration def: "Any deviation from the normal concentration of serine in the cerebrospinal fluid." [PMID:715764] synonym: "Abnormal serine levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500225 ! Abnormal CSF serine family amino acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T20:30:42Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500227 name: Increased CSF serine concentration def: "Abnormally increased levels of serine in cerebrospinal fluid." [PMID:715764] synonym: "High serine levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500226 ! Abnormal CSF serine concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T20:32:30Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500228 name: Decreased CSF serine concentration def: "Abnormally decreased levels of serine in cerebrospinal fluid." [PMID:715764] synonym: "Low serine levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500226 ! Abnormal CSF serine concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T20:32:46Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500229 name: Abnormal CSF glycine concentration def: "Any deviation from the normal concentration of glycine in the cerebrospinal fluid." [PMID:715764] synonym: "Abnormal glycine levels in cerebrospinal fluid." EXACT [PMID:715764] is_a: HP:0500225 ! Abnormal CSF serine family amino acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T20:40:09Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500230 name: Increased CSF glycine concentration def: "Abnormally increased levels of glycine in cerebrospinal fluid." [PMID:715764] synonym: "High glycine levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500229 ! Abnormal CSF glycine concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T20:40:30Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500231 name: Abnormal CSF pyruvate family amino acid concentration def: "Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid." [] synonym: "Abnormal pyruvate-family amino acid levels in cerebrospinal fluid" EXACT [] is_a: HP:0500184 ! Abnormal CSF amino acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T20:53:35Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500232 name: Abnormal CSF alanine concentration def: "Any deviation from the normal concentration of alanine in the cerebrospinal fluid." [PMID:715764] synonym: "Abnormal alanine levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500231 ! Abnormal CSF pyruvate family amino acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T20:53:52Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500233 name: Increased CSF alanine concentration def: "Abnormally increased levels of alanine in cerebrospinal fluid." [PMID:715764] synonym: "High alanine levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500232 ! Abnormal CSF alanine concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T20:55:23Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500234 name: Decreased CSF alanine concentration def: "Abnormally decreased levels of alanine in cerebrospinal fluid." [PMID:715764] synonym: "Low alanine levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500232 ! Abnormal CSF alanine concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T20:55:37Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500235 name: Abnormal CSF histidine concentration def: "Any deviation from the normal concentration of histidine in the cerebrospinal fluid." [PMID:715764] synonym: "Abnormal histidine levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500184 ! Abnormal CSF amino acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T21:07:30Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500236 name: Increased CSF histidine concentration def: "Abnormally increased levels of histidine in cerebrospinal fluid." [PMID:715764] synonym: "High histidine levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500235 ! Abnormal CSF histidine concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T21:08:11Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500237 name: Decreased CSF histidine concentration def: "Abnormally decreased levels of histidine in cerebrospinal fluid." [PMID:715764] synonym: "Low histidine levels in cerebrospinal fluid" EXACT [PMID:715764] is_a: HP:0500235 ! Abnormal CSF histidine concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-25T21:08:33Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500238 name: Abnormal CSF albumin concentration def: "Any deviation from the normal concentration of albumin in the cerebrospinal fluid." [PMID:27067000] synonym: "Abnormal albumin levels in cerebrospinal fluid" EXACT [PMID:27067000] is_a: HP:0025456 ! Abnormal CSF protein level property_value: http://purl.org/dc/elements/1.1/date 2019-02-26T15:00:29Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500239 name: Increased CSF albumin concentration comment: Abnormally increased levels of albumin in cerebrospinal fluid. {xref="PMID:27067000"} synonym: "High albumin levels in cerebrospinal fluid" EXACT [PMID:27067000] is_a: HP:0500238 ! Abnormal CSF albumin concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-26T15:00:54Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500240 name: Abnormal CSF carnosine concentration def: "Any deviation from the normal concentration of carnosine in the cerebrospinal fluid." [PMID:16341596] synonym: "Abnormal carnosine levels in cerebrospinal fluid" EXACT [PMID:16341596] is_a: HP:0500184 ! Abnormal CSF amino acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-26T15:25:43Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500241 name: Abnormal CSF homocarnosine concentration def: "Any deviation from the normal concentration of homocarnosine in the cerebrospinal fluid." [PMID:16341596] synonym: "Abnormal homocarnosine levels in cerebrospinal fluid" EXACT [PMID:16341596] is_a: HP:0500184 ! Abnormal CSF amino acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-26T15:26:01Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500242 name: Increased CSF homocarnosine concentration def: "Abnormally increased levels of homocarnosine in cerebrospinal fluid." [PMID:16341596] synonym: "High homocarnosine levels in cerebrospinal fluid" EXACT [PMID:16341596] is_a: HP:0500241 ! Abnormal CSF homocarnosine concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-26T15:26:24Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500243 name: Abnormal CSF ornithine concentration def: "Any deviation from the normal concentration of ornithine in the cerebrospinal fluid." [PMID:20551690] synonym: "Abnormal ornithine levels in cerebrospinal fluid" EXACT [PMID:20551690] is_a: HP:0500184 ! Abnormal CSF amino acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-26T15:36:15Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500244 name: Increased CSF ornithine concentration def: "Abnormally increased levels of ornithine in cerebrospinal fluid." [PMID:20551690] synonym: "High ornithine levels in cerebrospinal fluid" EXACT [PMID:20551690] is_a: HP:0500243 ! Abnormal CSF ornithine concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-26T15:36:36Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500245 name: Abnormal CSF citrulline concentration def: "Any deviation from the normal concentration of citrulline in the cerebrospinal fluid." [PMID:16793028] synonym: "Abnormal citrulline levels in cerebrospinal fluid" EXACT [PMID:16793028] is_a: HP:0500184 ! Abnormal CSF amino acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-26T15:48:42Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500246 name: Increased CSF citrulline concentration def: "Abnormally increased levels of citrulline in cerebrospinal fluid." [PMID:16793028] synonym: "High citrulline levels in cerebrospinal fluid" EXACT [PMID:16793028] is_a: HP:0500245 ! Abnormal CSF citrulline concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-26T15:49:01Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500247 name: Abnormal CSF alpha-aminobutyrate concentration def: "Any deviation from the normal concentration of alpha-aminobutyrate in the cerebrospinal fluid." [PMID:3397910] synonym: "Abnormal alpha-aminobutyrate levels in cerebrospinal fluid" EXACT [PMID:3397910] is_a: HP:0500184 ! Abnormal CSF amino acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-26T15:59:10Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500248 name: Increased CSF alpha-aminobutyrate concentration def: "Abnormally increased levels of alpha-aminobutyrate in cerebrospinal fluid." [PMID:3397910] synonym: "High alpha-aminobutyrate levels in cerebrospinal fluid" EXACT [PMID:3397910] is_a: HP:0500247 ! Abnormal CSF alpha-aminobutyrate concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-26T15:59:28Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500249 name: Abnormal circulating ethanolamine concentration def: "Any deviation from the normal concentration of ethanolamine in circulation." [PMID:28785375] synonym: "Abnormal ethanolamine levels in the blood" EXACT [PMID:28785375] is_a: HP:0003112 ! Abnormality of serum amino acid level property_value: http://purl.org/dc/elements/1.1/date 2019-02-26T16:08:51Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500250 name: Increased circulating ethanolamine concentration def: "Abnormally increased levels of ethanolamine in circulation." [PMID:28785375] synonym: "High ethanolamine levels in the blood" EXACT [PMID:28785375] is_a: HP:0500249 ! Abnormal circulating ethanolamine concentration property_value: http://purl.org/dc/elements/1.1/date 2019-02-26T16:09:12Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500251 name: Abnormal urine sebacic acid concentration def: "Abnormal concentration of sebacic acid in the urine." [PMID:25051233] synonym: "Abnormal urine decanedioic acid concentration" EXACT [] is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: http://purl.org/dc/elements/1.1/date 2019-03-08T19:58:13Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500252 name: Increased urine sebacic acid concentration def: "Elevated concentration of sebacic acid in the urine." [PMID:25051233] synonym: "Increased urine decanedioic acid concentration" EXACT [] is_a: HP:0500251 ! Abnormal urine sebacic acid concentration property_value: http://purl.org/dc/elements/1.1/date 2019-03-08T20:03:22Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500253 name: Increased level of gamma-aminobutyric acid in urine def: "Elevated concentration of gamma-aminobutyric acid in the urine." [PMID:11121859] synonym: "Increased urinary excretion of gamma-aminobutyric acid (GABA)" EXACT [] is_a: HP:0003355 ! Aminoaciduria property_value: http://purl.org/dc/elements/1.1/date 2019-03-08T20:23:10Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500254 name: Abnormal urine hexanoylglycine concentration def: "Abnormal concentration of hexanoylglycine in the urine." [PMID:2775902] synonym: "Abnormal urinary N-hexanoylglycine levels" EXACT [PMID:2775902] is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: http://purl.org/dc/elements/1.1/date 2019-03-08T20:56:21Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500255 name: Increased level of hexanoylglycine in urine def: "Elevated concentration of hexanoylglycine in the urine." [PMID:2775902] synonym: "Elevated urinary N-hexanoylglycine concentration" EXACT [PMID:2775902] is_a: HP:0500254 ! Abnormal urine hexanoylglycine concentration property_value: http://purl.org/dc/elements/1.1/date 2019-03-08T21:01:41Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500256 name: Abnormal urine isobutyrylglycine concentration def: "Abnormal concentration of isobutyrylglycine in the urine." [PMID:28053874] synonym: "Abnormal urinary isobutyrylglycine levels" EXACT [PMID:28053874] is_a: HP:0012073 ! Abnormal urinary acylglycine profile property_value: http://purl.org/dc/elements/1.1/date 2019-03-08T21:14:32Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500257 name: Increased urine isobutyrylglycine concentration def: "Elevated concentration of isobutyrylglycine in the urine." [PMID:28053874] synonym: "High urinary isobutyrylglycine levels" EXACT [PMID:28053874] is_a: HP:0500256 ! Abnormal urine isobutyrylglycine concentration property_value: http://purl.org/dc/elements/1.1/date 2019-03-08T21:15:36Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500258 name: Abnormal carbon dioxide level in cord blood def: "Abnormal amount of carbon dioxide in umbilical cord blood" [] synonym: "Abnormal CO2 level in cord blood" EXACT HP:0045077 [] synonym: "Abnormal umbilical cord blood levels of carbon dioxide" EXACT [] is_a: HP:0410211 ! Abnormal blood gas level in cord blood property_value: http://purl.org/dc/elements/1.1/date 2019-04-23T17:10:09Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500259 name: Abnormal oxygen level in cord blood def: "An abnormal level of blood oxygen in the cord blood." [] synonym: "Abnormal cord blood oxygen levels" EXACT [] synonym: "Abnormal O2 level in cord blood" EXACT HP:0045077 [] synonym: "Abnormal oxygen amount in umbilical cord blood" EXACT [] is_a: HP:0410211 ! Abnormal blood gas level in cord blood property_value: http://purl.org/dc/elements/1.1/date 2019-04-23T17:11:51Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500260 name: Triggered by head trauma def: "Applies to a sign or symptom that is provoked or brought about by exposure to a head trauma." [] synonym: "Head trauma triggered symptoms" EXACT [] is_a: HP:0031135 ! Triggered by physical trauma property_value: http://purl.org/dc/elements/1.1/date 2019-04-30T14:17:10Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0500261 name: Triggered by anesthetics def: "Applies to a sign or symptom that is provoked or brought about by exposure to anesthetics." [] comment: Symptoms that are provoked by anesthetics adminstration, including halothane, sevoflurane, desflurane, enflurane, isoflurane, propofol, or etomidate. synonym: "Anesthetics trigger episodes" EXACT [] synonym: "Anesthetics triggered symptoms" EXACT [] is_a: HP:0025204 ! Triggered by property_value: http://purl.org/dc/elements/1.1/date 2019-04-30T14:21:26Z xsd:dateTime created_by: http://orcid.org/0000-0001-7941-2961 [Term] id: HP:0550003 name: Proximal scleroderma def: "Symmetrical thickening, tightening and induration of the skin of the fingers and the skin proximal to the metacarpophalangeal or metatarsophalangeal joints. These changes can involve the entire limb, face, neck and trunk." [PMID:3954464, RGD:gthayman] is_a: HP:0100324 ! Scleroderma property_value: http://purl.org/dc/elements/1.1/date 2017-08-02T22:02:40Z xsd:dateTime created_by: http://orcid.org/0000-0002-6387-4317 [Term] id: HP:0550004 name: Verruca plana def: "Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals." [HPO:ucbasharo] synonym: "Flat wart" EXACT layperson [] is_a: HP:0200043 ! Verrucae property_value: http://purl.org/dc/elements/1.1/date 2017-08-03T19:50:21Z xsd:dateTime created_by: ORCID:0000-0002-6387-4317 [Term] id: HP:0550005 name: Bilateral basilar pulmonary fibrosis def: "It is a bilateral reticular pattern of linear or lineonodular densities that are most pronounced in basilar portions of the lungs on standard chest x-ray. It is the third minor criterion for scleroderma diagnosis." [PMID:7378088, RGD:gthayman] synonym: "Lung disease with systemic sclerosis" EXACT [] synonym: "Scleroderma lung disease" EXACT [] synonym: "Scleroderma of lung" EXACT [] is_a: HP:0002206 ! Pulmonary fibrosis property_value: http://purl.org/dc/elements/1.1/date 2017-08-03T19:57:54Z xsd:dateTime created_by: ORCID:0000-0002-6387-4317 [Term] id: HP:3000001 name: obsolete Abnormal heart morphology is_obsolete: true replaced_by: HP:0001627 [Term] id: HP:3000002 name: Abnormal inner ear epithelium morphology def: "Any structural anomaly of an inner ear epithelium." [GOC:TermGenie] xref: UMLS:C4073211 is_a: HP:0011390 ! Morphological abnormality of the inner ear created_by: haendel creation_date: 2014-07-15T23:41:38Z [Term] id: HP:3000003 name: Abnormal mandibular ramus morphology def: "An abnormality of a mandibular ramus." [GOC:TermGenie] synonym: "Abnormality of mandibular ramus" EXACT [] xref: UMLS:C4073212 is_a: HP:0000163 ! Abnormal oral cavity morphology is_a: HP:0000277 ! Abnormality of the mandible created_by: vasilevs creation_date: 2015-02-26T03:38:57Z [Term] id: HP:3000004 name: Abnormality of frontalis muscle belly def: "An abnormality of a frontalis muscle belly." [GOC:TermGenie] xref: UMLS:C4073213 is_a: HP:0000290 ! Abnormality of the forehead is_a: HP:0040172 ! Abnormality of occipitofrontalis muscle created_by: vasilevs creation_date: 2015-02-26T03:42:54Z [Term] id: HP:3000005 name: Abnormality of masseter muscle def: "An abnormality of a masseter muscle." [GOC:TermGenie] xref: UMLS:C4073214 is_a: HP:0410011 ! Abnormality of masticatory muscle created_by: vasilevs creation_date: 2015-02-26T03:43:00Z [Term] id: HP:3000006 name: Abnormality of medial pterygoid muscle def: "An abnormality of a medial pterygoid muscle." [GOC:TermGenie] xref: UMLS:C4073215 is_a: HP:0410011 ! Abnormality of masticatory muscle created_by: vasilevs creation_date: 2015-02-26T03:43:06Z [Term] id: HP:3000007 name: Abnormality of mentalis muscle def: "An abnormality of a mentalis muscle." [GOC:TermGenie] xref: UMLS:C4073216 is_a: HP:0000306 ! Abnormality of the chin is_a: HP:0430019 ! Abnormality of muscle of facial expression created_by: vasilevs creation_date: 2015-02-26T03:43:12Z [Term] id: HP:3000008 name: Abnormality of mylohyoid muscle def: "An abnormality of a mylohyoid muscle." [GOC:TermGenie] xref: UMLS:C4073217 is_a: HP:0000301 ! Abnormality of facial musculature is_a: HP:0410012 ! Abnormal mouth floor morphology is_a: HP:0410013 ! Abnormality of the submandibular region created_by: vasilevs creation_date: 2015-02-26T03:43:17Z [Term] id: HP:3000009 name: Abnormality of nasalis muscle def: "An abnormality of a nasalis muscle." [GOC:TermGenie] xref: UMLS:C4073218 is_a: HP:0000366 ! Abnormality of the nose is_a: HP:0430018 ! Abnormality of nasal musculature created_by: vasilevs creation_date: 2015-02-26T03:55:52Z [Term] id: HP:3000010 name: Abnormality of orbicularis oris muscle def: "An abnormality of an orbicularis oris muscle." [GOC:TermGenie] xref: UMLS:C4073219 is_a: HP:0430019 ! Abnormality of muscle of facial expression created_by: vasilevs creation_date: 2015-02-26T03:55:58Z [Term] id: HP:3000011 name: Abnormality of palatoglossus muscle def: "An abnormality of a palatoglossus muscle." [GOC:TermGenie] xref: UMLS:C4073220 is_a: HP:0040174 ! Abnormality of extrinsic muscle of tongue is_a: HP:0430014 ! Abnormality of musculature of soft palate created_by: vasilevs creation_date: 2015-02-26T03:56:03Z [Term] id: HP:3000012 name: Abnormality of palatopharyngeus muscle def: "An abnormality of a palatopharyngeus muscle." [GOC:TermGenie] xref: UMLS:C4073221 is_a: HP:0430014 ! Abnormality of musculature of soft palate is_a: HP:0430015 ! Abnormality of musculature of pharynx created_by: vasilevs creation_date: 2015-02-26T03:56:09Z [Term] id: HP:3000013 name: Abnormality of platysma def: "An abnormality of the platysma muscle." [GOC:TermGenie, ORCID:0000-0001-5889-4463] synonym: "Abnormality of the platysma muscle" EXACT [] xref: UMLS:C4073222 is_a: HP:0000301 ! Abnormality of facial musculature is_a: HP:0001574 ! Abnormality of the integument is_a: HP:0011006 ! Abnormality of the musculature of the neck created_by: vasilevs creation_date: 2015-02-26T03:56:14Z [Term] id: HP:3000014 name: Abnormality of procerus muscle def: "An abnormality of a procerus." [GOC:TermGenie] xref: UMLS:C4073223 is_a: HP:0000366 ! Abnormality of the nose is_a: HP:0430018 ! Abnormality of nasal musculature created_by: vasilevs creation_date: 2015-02-26T03:58:45Z [Term] id: HP:3000015 name: Abnormality of risorius muscle def: "An abnormality of a risorius muscle." [GOC:TermGenie] xref: UMLS:C4073224 is_a: HP:0004426 ! Abnormality of the cheek is_a: HP:0430019 ! Abnormality of muscle of facial expression created_by: vasilevs creation_date: 2015-02-26T03:58:51Z [Term] id: HP:3000016 name: Abnormality of styloglossus muscle def: "An abnormality of the styloglossus muscle." [GOC:TermGenie, ORCID:0000-0001-5889-4463] xref: UMLS:C4073225 is_a: HP:0040174 ! Abnormality of extrinsic muscle of tongue created_by: vasilevs creation_date: 2015-02-26T03:58:56Z [Term] id: HP:3000017 name: Abnormality of temporalis muscle def: "An abnormality of a temporalis muscle." [GOC:TermGenie] xref: UMLS:C4073226 is_a: HP:0410011 ! Abnormality of masticatory muscle created_by: vasilevs creation_date: 2015-02-26T03:59:01Z [Term] id: HP:3000018 name: Abnormality of zygomaticus major muscle def: "An abnormality of a zygomaticus major muscle." [GOC:TermGenie] xref: UMLS:C4073227 is_a: HP:0004426 ! Abnormality of the cheek is_a: HP:0430019 ! Abnormality of muscle of facial expression created_by: vasilevs creation_date: 2015-02-26T03:59:07Z [Term] id: HP:3000019 name: Abnormality of buccal mucosa def: "An abnormality of a buccal mucosa." [GOC:TermGenie] synonym: "Abnormality of cheek mucosa" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Abnormality of inside lining of cheek" EXACT layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4073228 is_a: HP:0004426 ! Abnormality of the cheek created_by: vasilevs creation_date: 2015-08-07T00:13:17Z [Term] id: HP:3000020 name: Abnormality of zygomaticus minor muscle def: "An abnormality of a zygomaticus minor muscle." [GOC:TermGenie] xref: UMLS:C4073229 is_a: HP:0004426 ! Abnormality of the cheek is_a: HP:0430019 ! Abnormality of muscle of facial expression created_by: vasilevs creation_date: 2015-08-07T00:15:45Z [Term] id: HP:3000021 name: Abnormality of buccal fat pad def: "An abnormality of a buccal fat pad." [GOC:TermGenie] xref: UMLS:C4073230 is_a: HP:0004426 ! Abnormality of the cheek created_by: vasilevs creation_date: 2015-08-07T00:15:49Z [Term] id: HP:3000022 name: Abnormality of cartilage of external ear def: "An abnormality of a cartilage of external ear." [GOC:TermGenie] xref: UMLS:C4073231 is_a: HP:0000356 ! Abnormality of the outer ear is_a: HP:0410007 ! Abnormality of cartilage morphology created_by: vasilevs creation_date: 2015-08-07T00:15:54Z [Term] id: HP:3000023 name: Abnormality of angular artery def: "An abnormality of the angular artery, the terminal branch of the facial artery." [GOC:TermGenie, ORCID:0000-0001-5889-4463] xref: UMLS:C4073232 is_a: HP:3000024 ! Abnormal facial artery morphology created_by: vasilevs creation_date: 2015-08-07T00:15:58Z [Term] id: HP:3000024 name: Abnormal facial artery morphology def: "Any structural abnormality of a facial artery, one of the branches of the external carotid artery." [GOC:TermGenie, ORCID:0000-0001-5889-4463] synonym: "Abnormality of facial artery" EXACT [] xref: UMLS:C4073233 is_a: HP:0011004 ! Abnormal systemic arterial morphology created_by: vasilevs creation_date: 2015-08-07T00:16:03Z [Term] id: HP:3000025 name: Abnormality of ciliary ganglion def: "An abnormality of a ciliary ganglion." [GOC:TermGenie] xref: UMLS:C4073234 is_a: HP:0410016 ! Abnormality of cranial ganglion created_by: vasilevs creation_date: 2015-08-07T00:16:07Z [Term] id: HP:3000026 name: obsolete Abnormality of common carotid artery plus branches is_obsolete: true consider: HP:0430021 [Term] id: HP:3000027 name: Abnormality of buccinator muscle def: "An abnormality of a buccinator muscle." [GOC:TermGenie] xref: UMLS:C4073236 is_a: HP:0004426 ! Abnormality of the cheek created_by: vasilevs creation_date: 2015-08-07T00:16:16Z [Term] id: HP:3000028 name: Abnormality of depressor anguli oris muscle def: "An abnormality of a depressor anguli oris muscle." [GOC:TermGenie] xref: UMLS:C4073237 is_a: HP:0430019 ! Abnormality of muscle of facial expression created_by: vasilevs creation_date: 2015-08-07T00:16:20Z [Term] id: HP:3000029 name: Abnormality of depressor labii inferioris def: "An abnormality of a depressor labii inferioris." [GOC:TermGenie] synonym: "Abnormality of depressor labii inferioris muscle" EXACT [] xref: UMLS:C4073238 is_a: HP:0000306 ! Abnormality of the chin is_a: HP:0430019 ! Abnormality of muscle of facial expression created_by: vasilevs creation_date: 2015-08-07T00:16:25Z [Term] id: HP:3000030 name: Abnormality of bony orbit of skull def: "An abnormality of an orbit of skull." [GOC:TermGenie] synonym: "Abnormality of bones of the orbit of the skull" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the bony eye socket" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of the orbital bones of skull" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4073239 is_a: HP:0000315 ! Abnormality of the orbital region is_a: HP:0000929 ! Abnormal skull morphology created_by: vasilevs creation_date: 2015-08-07T00:27:07Z [Term] id: HP:3000031 name: Abnormality of anterior ethmoidal artery def: "An abnormality of an anterior ethmoidal artery." [GOC:TermGenie] xref: UMLS:C4073287 is_a: HP:0410006 ! Abnormality of ophthalmic artery created_by: vasilevs creation_date: 2015-08-07T00:27:12Z [Term] id: HP:3000032 name: Abnormality of central retinal artery def: "An abnormality of a central retinal artery." [GOC:TermGenie] comment: The central retinal artery is a small branch of the ophthalmic artery that extends forward a short distance before entering the meningeal sheath of the nerve about 10 to 12 mm behind the globe of the eye. xref: UMLS:C4073240 is_a: HP:0410006 ! Abnormality of ophthalmic artery created_by: vasilevs creation_date: 2015-08-07T00:27:17Z [Term] id: HP:3000033 name: Abnormality of nasopharyngeal adenoids def: "Any abnormality of nasopharyngeal adenoids." [] comment: The adenoid, a mass of lymphatic tissue situated posterior to the nasal cavity, in the roof of the nasopharynx, where the nose blends into the throat. {xref="GOC:TermGenie", xref="ORCID:0000-0001-5889-4463"} synonym: "Abnormality of adenoids" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of nasopharyngeal tonsil" EXACT [ORCID:0000-0001-5889-4463] synonym: "Abnormality of pharyngeal tonsil" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4073241 is_a: HP:0001739 ! Abnormality of the nasopharynx is_a: HP:0100765 ! Abnormality of the tonsils created_by: vasilevs creation_date: 2015-08-07T00:27:21Z [Term] id: HP:3000034 name: Abnormality of cartilage of nasal septum def: "An abnormality of a cartilage of nasal septum." [GOC:TermGenie] synonym: "Abnormality of cartilage of nasal septum" EXACT layperson [] synonym: "Abnormality of cartilage of septum of nose" EXACT layperson [ORCID:0000-0001-5889-4463] synonym: "Anomaly of cartilage of nasal septum" EXACT [ORCID:0000-0001-5889-4463] synonym: "Deformity of cartilage of nasal septum" NARROW layperson [ORCID:0000-0001-5889-4463] synonym: "Malformation of cartilage of nasal septum" NARROW layperson [ORCID:0000-0001-5889-4463] xref: UMLS:C4073242 is_a: HP:0000419 ! Abnormality of the nasal septum is_a: HP:0010937 ! Abnormality of the nasal skeleton is_a: HP:0410007 ! Abnormality of cartilage morphology created_by: vasilevs creation_date: 2015-08-07T00:27:26Z [Term] id: HP:3000035 name: Abnormality of cervical plexus def: "Abnormality of the plexus of the ventral rami of the first four cervical spinal nerves which are located from C1 to C4 cervical segment in the neck." [ORCID:0000-0001-5889-4463] xref: UMLS:C4073243 is_a: HP:0410010 ! Abnormality of somatic nerve plexus created_by: vasilevs creation_date: 2015-08-07T00:35:58Z [Term] id: HP:3000036 name: Abnormality of head blood vessel def: "An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head." [GOC:TermGenie, ORCID:0000-0001-5889-4463] synonym: "Abnormality of blood vessel of head" EXACT layperson [] synonym: "Abnormality of head blood vessel" EXACT layperson [] synonym: "Abnormality of vasculature of head" EXACT [] xref: UMLS:C4073244 is_a: HP:0000234 ! Abnormality of the head is_a: HP:0002597 ! Abnormality of the vasculature created_by: vasilevs creation_date: 2015-08-07T00:36:02Z [Term] id: HP:3000037 name: Abnormality of neck blood vessel def: "An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck." [GOC:TermGenie, ORCID:0000-0001-5889-4463] synonym: "Abnormality of blood vessel of neck" EXACT layperson [] synonym: "Abnormality of neck blood vessel" EXACT layperson [] synonym: "Abnormality of the cervical blood vessels" EXACT [] synonym: "Abnormality of the cervical vasculature" EXACT [] synonym: "Abnormality of the vasculature of the neck" EXACT [] xref: UMLS:C4073245 is_a: HP:0000464 ! Abnormality of the neck is_a: HP:0002597 ! Abnormality of the vasculature created_by: vasilevs creation_date: 2015-08-07T00:36:06Z [Term] id: HP:3000038 name: Abnormal cricoid cartilage morphology def: "Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx." [GOC:TermGenie] synonym: "Abnormality of cricoid cartilage" EXACT [] xref: UMLS:C4073246 is_a: HP:0025423 ! Abnormal larynx morphology is_a: HP:0410007 ! Abnormality of cartilage morphology created_by: vasilevs creation_date: 2015-08-07T00:36:11Z [Term] id: HP:3000039 name: Abnormality of dorsal nasal artery def: "An abnormality of a dorsal nasal artery." [GOC:TermGenie] xref: UMLS:C4073247 is_a: HP:0410006 ! Abnormality of ophthalmic artery created_by: vasilevs creation_date: 2015-08-07T00:36:15Z [Term] id: HP:3000040 name: Abnormality of ethmoid sinus def: "An abnormality of an ethmoid sinus." [GOC:TermGenie] synonym: "Abnormality of ethmoidal air cells" EXACT [] xref: UMLS:C4073248 is_a: HP:0000245 ! Abnormality of the paranasal sinuses created_by: vasilevs creation_date: 2015-08-07T00:36:19Z [Term] id: HP:3000041 name: Abnormality of external carotid artery def: "An abnormality of an external carotid artery." [GOC:TermGenie] synonym: "Abnormality of carotid artery" BROAD [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] synonym: "Disorder of carotid artery" BROAD [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-5889-4463] xref: UMLS:C4073249 is_a: HP:0005344 ! Abnormal carotid artery morphology created_by: vasilevs creation_date: 2015-08-07T00:36:24Z [Term] id: HP:3000042 name: Abnormal jugular vein morphology def: "Any structural abnormality of a jugular vein." [GOC:TermGenie] synonym: "Abnormality of jugular vein" EXACT layperson [] xref: UMLS:C4073250 is_a: HP:0002624 ! Abnormal venous morphology is_a: HP:3000037 ! Abnormality of neck blood vessel created_by: vasilevs creation_date: 2015-08-07T01:04:39Z [Term] id: HP:3000043 name: Abnormal facial vein morphology def: "An abnormality of a facial vein." [GOC:TermGenie] synonym: "Abnormal vein of face" EXACT layperson [ORCID:0000-0001-5208-3432] synonym: "Abnormality of facial vein" EXACT layperson [] xref: UMLS:C4073251 is_a: HP:0002624 ! Abnormal venous morphology is_a: HP:3000036 ! Abnormality of head blood vessel is_a: HP:3000037 ! Abnormality of neck blood vessel created_by: vasilevs creation_date: 2015-08-07T01:04:44Z [Term] id: HP:3000044 name: Abnormality of frontal process of maxilla def: "An abnormality of a frontal process of the maxilla bone." [GOC:TermGenie, ORCID:0000-0001-5889-4463] xref: UMLS:C4073252 is_a: HP:0000326 ! Abnormality of the maxilla created_by: vasilevs creation_date: 2015-08-07T01:04:49Z [Term] id: HP:3000045 name: Abnormality of genioglossus muscle def: "An abnormality of a genioglossus muscle." [GOC:TermGenie] xref: UMLS:C4073253 is_a: HP:0040174 ! Abnormality of extrinsic muscle of tongue created_by: vasilevs creation_date: 2015-08-07T01:04:53Z [Term] id: HP:3000046 name: Abnormality of geniohyoid muscle def: "An abnormality of a geniohyoid muscle." [GOC:TermGenie] xref: UMLS:C4073254 is_a: HP:0011006 ! Abnormality of the musculature of the neck created_by: vasilevs creation_date: 2015-08-07T01:04:58Z [Term] id: HP:3000047 name: Abnormal glossopharyngeal nerve morphology def: "Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX)." [GOC:TermGenie] comment: The glossopharyngeal nerve originates in the medulla oblongata. It Innervates the oropharynx, carotid body and sinus, as well as the posterior third of the tongue (where it mediates taste sensation), the middle ear cavity and the Eustachian tube. Additionally, it innervates the stylopharyngeus muscle of the pharynx. synonym: "Abnormality of glossopharyngeal nerve" EXACT [] xref: UMLS:C4073255 is_a: HP:0001291 ! Abnormal cranial nerve morphology is_a: HP:0045010 ! Abnormality of peripheral nerves created_by: vasilevs creation_date: 2015-08-07T01:08:41Z [Term] id: HP:3000048 name: Abnormal great auricular nerve morphology def: "Any structural anomaly of a great auricular nerve." [GOC:TermGenie, PMID:26504711] comment: The great auricular nerve originates from the cervical plexus and ascends to the posterior inferior region of the parotid gland, where it divides into several small branches. The nerve supplies sensation for an extensive area of the face including the skin over the parotid gland and the mastoid process and the surface of the external ear. The great auricular nerve winds around the posterior aspect of the sternocleidomastoid muscle. After perforating the deep fascia, it ascends upon the sternocleidomastoid muscle beneath the platysma to the parotid gland, where it divides into an anterior and a posterior branch. The anterior branch provides sensory innervation to the skin overlying the parotid gland and communicates with the facial nerve in the substance of the gland. The posterior branch innervates the skin over the mastoid and the posterior surface of the auricle except at its upper part. xref: UMLS:C4073256 is_a: HP:0045010 ! Abnormality of peripheral nerves created_by: vasilevs creation_date: 2015-08-07T01:08:45Z [Term] id: HP:3000049 name: Abnormal greater palatine artery morphology def: "An abnormality of a greater palatine artery." [GOC:TermGenie] comment: The greater palatine artery is a terminal branch of the maxillary artery that supplies blood to the hard palate and nasal septum. synonym: "Abnormality of greater palatine artery" EXACT [] xref: UMLS:C4073257 is_a: HP:0011004 ! Abnormal systemic arterial morphology created_by: vasilevs creation_date: 2015-08-07T01:08:50Z [Term] id: HP:3000050 name: Abnormality of odontoid tissue def: "An abnormality of an odontoid tissue." [GOC:TermGenie] synonym: "Abnormality of hard tissues of teeth" EXACT [] synonym: "Abnormality of tooth hard tissue" EXACT [] xref: UMLS:C4073258 is_a: HP:0000924 ! Abnormality of the skeletal system is_a: HP:0003549 ! Abnormality of connective tissue created_by: vasilevs creation_date: 2015-08-07T01:08:54Z [Term] id: HP:3000051 name: Abnormality of hyoglossus muscle def: "An abnormality of a hyoglossus muscle." [GOC:TermGenie] xref: UMLS:C4073259 is_a: HP:0003011 ! Abnormality of the musculature is_a: HP:0030809 ! Abnormal tongue morphology created_by: vasilevs creation_date: 2015-08-07T01:08:58Z [Term] id: HP:3000052 name: Abnormality of hyoid bone def: "An abnormality of a hyoid bone." [GOC:TermGenie] xref: UMLS:C4073260 is_a: HP:0011842 ! Abnormality of skeletal morphology created_by: vasilevs creation_date: 2015-08-07T01:09:03Z [Term] id: HP:3000053 name: Abnormality of hypopharynx def: "An abnormality of a hypopharynx." [GOC:TermGenie] synonym: "Abnormality of hypopharynx" EXACT layperson [] synonym: "Abnormality of lower pharynx" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4073261 is_a: HP:0000600 ! Abnormality of the pharynx created_by: vasilevs creation_date: 2015-08-07T01:09:07Z [Term] id: HP:3000054 name: Abnormality of inferior alveolar artery def: "An abnormality of an inferior alveolar artery." [GOC:TermGenie] xref: UMLS:C4073262 is_a: HP:0031816 ! Abnormal oral morphology is_a: HP:3000036 ! Abnormality of head blood vessel created_by: vasilevs creation_date: 2015-08-07T01:09:11Z [Term] id: HP:3000055 name: Abnormality of inferior alveolar nerve def: "An abnormality of an inferior alveolar nerve." [GOC:TermGenie] xref: UMLS:C4073263 is_a: HP:0001291 ! Abnormal cranial nerve morphology is_a: HP:0045010 ! Abnormality of peripheral nerves created_by: vasilevs creation_date: 2015-08-07T01:10:08Z [Term] id: HP:3000056 name: Abnormality of artery of lower lip def: "An abnormality of an artery of lower lip." [GOC:TermGenie] synonym: "Abnormality of the inferior labial artery" EXACT [] xref: UMLS:C4073264 is_a: HP:3000024 ! Abnormal facial artery morphology created_by: vasilevs creation_date: 2015-08-07T03:18:34Z [Term] id: HP:3000057 name: Abnormality of inferior oblique extraocular muscle def: "An abnormality of an inferior oblique extraocular muscle." [GOC:TermGenie] synonym: "Abnormality of the inferior oblique muscle" EXACT [] xref: UMLS:C4073265 is_a: HP:0008049 ! Abnormality of the extraocular muscles created_by: vasilevs creation_date: 2015-08-07T03:18:39Z [Term] id: HP:3000058 name: Abnormality of inferior rectus extraocular muscle def: "An abnormality of an inferior rectus extraocular muscle." [GOC:TermGenie] xref: UMLS:C4073266 is_a: HP:0008049 ! Abnormality of the extraocular muscles created_by: vasilevs creation_date: 2015-08-07T03:18:44Z [Term] id: HP:3000059 name: Abnormal inferior thyroid vein morphology def: "An abnormality of an inferior thyroid vein." [GOC:TermGenie] synonym: "Abnormality of inferior thyroid vein" EXACT [] xref: UMLS:C4073267 is_a: HP:0002624 ! Abnormal venous morphology created_by: vasilevs creation_date: 2015-08-07T03:18:48Z [Term] id: HP:3000060 name: Abnormality of infraorbital artery def: "An abnormality of an infraorbital artery." [GOC:TermGenie] xref: UMLS:C4073268 is_a: HP:0002597 ! Abnormality of the vasculature created_by: vasilevs creation_date: 2015-08-07T03:18:53Z [Term] id: HP:3000061 name: Abnormality of infra-orbital nerve def: "A structural abnormality of an infra-orbital nerve. The infraorbital nerve arises from the maxillary branch of the trigeminal nerve and normally traverses the orbital floor in the infraorbital canal." [GOC:TermGenie, PMID:26564432] synonym: "Abnormality of the infraorbital nerve" EXACT [] xref: UMLS:C4073269 is_a: HP:0010824 ! Abnormal fifth cranial nerve morphology created_by: vasilevs creation_date: 2015-08-07T03:18:57Z [Term] id: HP:3000062 name: Abnormal internal carotid artery morphology def: "An abnormality of an internal carotid artery." [GOC:TermGenie] synonym: "Abnormality of internal carotid artery" EXACT [] xref: UMLS:C1860488 is_a: HP:0005344 ! Abnormal carotid artery morphology is_a: HP:3000036 ! Abnormality of head blood vessel created_by: vasilevs creation_date: 2015-08-07T03:19:02Z [Term] id: HP:3000063 name: Abnormality of internal jugular vein def: "An abnormality of an internal jugular vein." [GOC:TermGenie] xref: UMLS:C4073270 is_a: HP:3000042 ! Abnormal jugular vein morphology created_by: vasilevs creation_date: 2015-08-07T03:19:06Z [Term] id: HP:3000064 name: Abnormality of intrinsic muscle of tongue def: "An abnormality of an intrinsic muscle of tongue." [GOC:TermGenie] synonym: "Abnormality of intrinsic lingual muscle" EXACT [ORCID:0000-0001-5889-4463] xref: UMLS:C4073271 is_a: HP:0040173 ! Abnormality of the tongue muscle created_by: vasilevs creation_date: 2015-08-07T03:19:10Z [Term] id: HP:3000065 name: Abnormal lacrimal artery morphology def: "An abnormality of a lacrimal artery." [GOC:TermGenie] synonym: "Abnormality of lacrimal artery" EXACT [] xref: UMLS:C4073272 is_a: HP:0011004 ! Abnormal systemic arterial morphology is_a: HP:3000036 ! Abnormality of head blood vessel created_by: vasilevs creation_date: 2015-08-07T03:38:25Z [Term] id: HP:3000066 name: Abnormal lacrimal sac morphology def: "An abnormality of a lacrimal sac." [GOC:TermGenie] synonym: "Abnormality of lacrimal sac" EXACT [] xref: UMLS:C4073273 is_a: HP:0000614 ! Abnormal nasolacrimal system morphology created_by: vasilevs creation_date: 2015-08-07T03:38:31Z [Term] id: HP:3000067 name: Abnormal lateral cricoarytenoid muscle morphology def: "Any structural abnormality of a lateral crico-arytenoid muscle, which extends from the lateral cricoid cartilage to the muscular process of the arytenoid cartilage, and can adduct the vocal cords, which closes the rima glottidis and thereby protects the airway." [GOC:TermGenie] synonym: "Abnormal anterior cricoarytenoid muscle morphology" EXACT [] synonym: "Abnormality of lateral crico-arytenoid" EXACT [] synonym: "Abnormality of lateral cricoarytenoid muscle" EXACT [] xref: UMLS:C4073274 is_a: HP:0000464 ! Abnormality of the neck is_a: HP:0011805 ! Abnormal muscle morphology is_a: HP:0025423 ! Abnormal larynx morphology created_by: vasilevs creation_date: 2015-08-07T03:38:35Z [Term] id: HP:3000068 name: Abnormality of lateral pterygoid muscle def: "An abnormality of a lateral pterygoid muscle." [GOC:TermGenie] xref: UMLS:C4073275 is_a: HP:0410011 ! Abnormality of masticatory muscle created_by: vasilevs creation_date: 2015-08-07T03:38:40Z [Term] id: HP:3000069 name: Abnormality of lateral rectus extra-ocular muscle def: "An abnormality of a lateral rectus extra-ocular muscle." [GOC:TermGenie] xref: UMLS:C4073276 is_a: HP:0008049 ! Abnormality of the extraocular muscles created_by: vasilevs creation_date: 2015-08-07T03:38:44Z [Term] id: HP:3000070 name: Abnormality of levator anguli oris def: "An abnormality of a levator anguli oris." [GOC:TermGenie] xref: UMLS:C4073277 is_a: HP:0430019 ! Abnormality of muscle of facial expression created_by: vasilevs creation_date: 2015-08-07T03:38:48Z [Term] id: HP:3000071 name: Abnormality of levator labii superioris def: "An abnormality of a levator labii superioris." [GOC:TermGenie] xref: UMLS:C4073278 is_a: HP:0430019 ! Abnormality of muscle of facial expression created_by: vasilevs creation_date: 2015-08-07T03:38:52Z [Term] id: HP:3000072 name: Abnormal levator palpebrae superioris morphology def: "An abnormality of a levator palpebrae superioris." [GOC:TermGenie] xref: UMLS:C4073279 is_a: HP:0000492 ! Abnormal eyelid morphology is_a: HP:0008049 ! Abnormality of the extraocular muscles created_by: vasilevs creation_date: 2015-08-07T03:38:57Z [Term] id: HP:3000073 name: Abnormality of levator veli palatini muscle def: "An abnormality of a levator veli palatini." [GOC:TermGenie] xref: UMLS:C4073280 is_a: HP:0430014 ! Abnormality of musculature of soft palate created_by: vasilevs creation_date: 2015-08-07T03:39:01Z [Term] id: HP:3000074 name: Abnormal lingual artery morphology def: "Any structural abnormality of a lingual artery." [GOC:TermGenie] synonym: "Abnormality of lingual artery" EXACT [] xref: UMLS:C4073281 is_a: HP:0011004 ! Abnormal systemic arterial morphology is_a: HP:0030809 ! Abnormal tongue morphology is_a: HP:3000036 ! Abnormality of head blood vessel created_by: vasilevs creation_date: 2015-08-07T03:39:06Z [Term] id: HP:3000075 name: Abnormal lingual nerve morphology def: "Any structural anomaly of a lingual nerve." [GOC:TermGenie, PMID:27662622] comment: The lingual nerve (LN) is one of the two terminal branches of the posterior division of the mandibular nerve. It supplies the general sensation to the mucosa of the anterior two-thirds of the tongue, the sublingual mucosa, the mandibular lingual gingiva and the floor of the mouth.The chorda tympani nerve, a branch of the facial nerve joins this nerve carrying taste fibers from the anterior two third of the tongue and parasympathetic fibers to the submandibular ganglion. synonym: "Abnormality of lingual nerve" EXACT [] xref: UMLS:C4073282 is_a: HP:0045010 ! Abnormality of peripheral nerves created_by: vasilevs creation_date: 2015-08-07T03:39:10Z [Term] id: HP:3000076 name: Abnormality of lingual tonsil def: "An abnormality of a lingual tonsil." [GOC:TermGenie] xref: UMLS:C4073283 is_a: HP:0030809 ! Abnormal tongue morphology is_a: HP:0100765 ! Abnormality of the tonsils created_by: vasilevs creation_date: 2015-08-07T03:39:15Z [Term] id: HP:3000077 name: Abnormal mandible condylar process morphology def: "An abnormality of a mandible condylar process." [GOC:TermGenie] synonym: "Abnormality of mandible condylar process" EXACT [] xref: UMLS:C4073284 is_a: HP:0000277 ! Abnormality of the mandible is_a: HP:0031816 ! Abnormal oral morphology created_by: vasilevs creation_date: 2015-08-07T03:39:19Z [Term] id: HP:3000078 name: Abnormal mandible coronoid process morphology def: "An abnormality of a mandible coronoid process." [GOC:TermGenie] synonym: "Abnormality of mandible coronoid process" EXACT [] xref: UMLS:C4073285 is_a: HP:0000277 ! Abnormality of the mandible is_a: HP:0031816 ! Abnormal oral morphology created_by: vasilevs creation_date: 2015-08-07T03:39:24Z [Term] id: HP:3000079 name: Abnormality of mandibular symphysis def: "A structural abnormality of a mandibular symphysis." [GOC:TermGenie] synonym: "Abnormality of mandible symphysis" EXACT [] xref: UMLS:C4073286 is_a: HP:0011842 ! Abnormality of skeletal morphology created_by: vasilevs creation_date: 2015-08-07T03:39:28Z